婴儿先天性胆总管囊肿16例诊治分析

１９８５￣１９９４年作者单位共收治小儿先天性胆总管囊肿１０５例，其中年龄小于１２个月者１６例，占１５．２％，本病临床表现不典型，易延误诊治，超声检查可在产前检出本病，作者认为对于待续性黄疸的婴儿，保守治疗不宜时间过长，应积极手术探查。     

Interatrial septum rupture during balloon measurement of a patent foramen ovale in a young patient presenting cryptogenic stroke.

We report the case of a 36-year-old woman admitted for cryptogenic stroke, in whom the Patent Foramen Ovale (PFO) diameter measurement, with a purpose built sizing balloon, performed before the closure procedure, was complicated with the rupture of the inter-atrial septum generating an Atrial Septal Defect (ASD) with a significant left-to-right shunt. This kind of complication may not be easy to handle, changing the initial procedural strategy from PFO to ASD closure technique requiring specific material and operator's technical skill.     

冠状动脉起源于肺动脉的影像学研究

目的 探讨冠状动脉(简称冠脉)起源于肺动脉(ACAPA)影像学诊断方法的价值。方法 回顾性分析11例ACAPA的影像学表现。11例均行X线胸片、超声心动图(Echo)和心血管造影检查，其中1例行电子束CT(EBCT)检查。结果 10例为左冠脉起源于肺动脉，1例为右冠脉起源于肺动脉。11例胸片均未确诊，Echo诊断3例，EBCT诊断1例。心血管造影全部诊断正确，其中左冠脉异常起源者左冠脉均发自主肺动脉后窦或后壁，通过扩张的右冠脉藉侧支逆行充盈；右冠脉异常起源者右冠脉从主肺动脉右窦发出。手术与造影所见相同。3例前乳头肌缺血性纤维化，二尖瓣环扩大，前叶脱垂致二尖瓣关闭不全。结论 X线胸片诊断受限，Echo简便、无创，但操作技术及认知水平有待提高。心血管造影仍是术前确诊的“金标准”。     

The relations among putative biorisk markers in schizotypal adolescents: minor physical anomalies, movement abnormalities, and salivary cortisol.

BACKGROUND: Evidence suggests that prenatal insult may play a role in the etiology of psychotic disorders. Minor physical anomalies (MPA) are an indicator of abnormal fetal development and are elevated in individuals at genetic and behavioral risk for psychosis. Yet, there has been little empirical research on the relationships between MPAs and other neurobiological risk indicators. We hypothesized that the frequency of MPAs (an external marker of prenatal central nervous system [CNS] disruption) would be associated with two other biomarkers suggestive of disruptions in fetal neurodevelopment: movement abnormalities (an indicator of striatal abnormalities) and heightened cortisol secretion (an indicator of hypothalamic-pituitary-adrenal [HPA]/hippocampal function). METHODS: Participants with schizotypal personality disorder (SPD; n = 39) and both normal (n = 47) and other personality disorders (n = 28) control subjects were administered structured diagnostic interviews and assessed for MPAs, movement abnormalities, and salivary cortisol. RESULTS: Schizotypal personality disorder participants showed significantly greater MPAs and movement abnormalities and higher cortisol than both the normal and other personality disorders groups. Hierarchical linear regression analyses revealed that higher rates of MPAs were linked with greater movement abnormalities and salivary cortisol. CONCLUSIONS: The findings suggest that MPAs serve as a marker of neurodevelopmental abnormalities that affect striatal and hippocampal regions.     

改良Norwood手术临床应用

目的总结改良Norwood手术的临床应用经验。方法2004年7月和2005年3月分别为1例7月龄单心室伴左心室流出道梗阻女婴,采用主肺动脉和主动脉弓下缘直接吻合、主动脉肺动脉人工血管分流完成改良Norwood手术;1例出生13 d左心发育不良综合征新生儿,采用主肺动脉和主动脉弓下缘直接吻合、右心室肺动脉人工血管分流完成改良Norwood手术。结果例1术后平稳,动脉压为85～100/25～40mmHg（1 mm Hg=0．133kPa）,动脉血氧饱和度为0．75～0．85,术后第3d撤离辅助呼吸,第11 d出院。例2术后平稳,动脉压为65～80／40～60mmHg,动脉血氧饱和度为0．67～0．89,术后第12 d撤离辅助呼吸,第28 d出院。结论改良Norwood手术的先进方法和技术,值得在我国推广应用。     

A case of congenital supratentorial tumor: Atypical teratoid/rhabdoid tumor or primitive neuroectodermal tumor?

Two embryonal CNS tumors, atypical teratoid/rabdoid tumor (AT/RT) and primitive neuroectodermal tumor (PNET), may be confused with each other and misdiagnosed. Here we report an infant with a congenital supratentorial tumor, which was detected by fetal MRI at 37 weeks gestation. On routine histological examination, the tumor was composed mainly of small undifferentiated cells, among which many rhabdoid cells and occasional sickle‐shaped embracing cells were observed. No mesenchymal or epithelial areas were evident. Our impression was that the tumor was an atypical example of AT/RT. Immunohistochemically, almost all the tumor cells were strongly positive for vimentin. However, epithelial membrane antigen was notably negative, and most of the tumor cell nuclei were clearly positive for INI1. In addition, many tumor cells were positive for neurofilament protein. There were also occasional small areas containing many tumor cells positive for glial fibrillary acidic protein. Finally, a diagnosis of PNET, with a rhabdoid phenotype and expression of neuronal and glial markers, was made. In the present case, application of INI1 immunostaining was very helpful for distinguishing PNET from AT/RT.     

Urinary 17α-hydroxyprogesterone in management of 21 -hydroxylase deficiency

Objectives: The study was designed to assess the reliability of measurement of 24-hour urinary 17α-hydroxyprogesterone (17-OHP) by radio-immunoassay (RIA) as an alternative biochemical assessment for monitoring the treatment of congenital adrenal hyperplasia (CAH) due to 21 -hydroxylase deficiency (21 -OHD) and to assess the need for sample purification by column chromatography to improve assay specificity.
Methodology: Morning serum 17-OHP was measured using RIA and 24-hour urinary pregnanetriol using gas chromatography. Twenty-four-hour urinary 17-OHP was measured in samples from 17 prepubertal patients with CAH due to 21 -OHD, and 20 normal prepubertal children as controls. In 24 urine samples, RIA of 17-OHP was performed with and without column chromatography.
Results: There was a good correlation between 24-hour urinary 17-OHP and 24-hour urinary pregnanetriol (r = 0.962, P <0.01) and between 24-hour urinary 17-OHP and morning serum 17-OHP ( r = 0.955, P <0.01). There was no significant difference in the RIA of the urine samples with and without purification by column chromatography.
Conclusions: The measurement of 24-hour urinary 17-OHP is a reliable alternative for the biochemical monitoring of 21-OHD, and RIA specificity is unaffected by omission of column chromatography.     

Osteoporosis in severe congenital neutropenia treated with granulocyte colony-stimulating factor

Recombinant human granulocyte colony-stimulating factor (G-CSF) has substantially improved life expectancy for children with severe congenital neutropenia (SCN). Severe osteoporosis, reported in this population, may relate to the disease process, or be a therapeutic side-effect. This report details bone loss, quantitated absorptiometrically and histomorphometrically, in a child with SCN and vertebral collapse, and the positive response to anabolic steroid and bisphosphonate therapy.     

The dysmorphic lung: imaging findings

Congenital lung malformations are not infrequent and can be discovered in adults. It is, therefore, necessary to know their radiological manifestations in order to avoid diagnostic errors. We classify the congenital lung malformations in two main groups: dysmorphic lung and focal pulmonary malformations. We review the radiological spectrum of dysmorphic lung, based on a classification that emphasises the pulmonary abnormality, adding variants when diaphragmatic or venous abnormalities are present. In our opinion this approach allows for a rational use of advanced imaging techniques (CT, MRI). Correspondence to: Josep M. Mata.     

Type classification of anomalous pancreaticobiliary junction by ERCP

The role of endoscopic retrograde cholangiopancreatography (ERCP) in the preoperative assessment of anomalous pancreaticobiliary junction was retrospectively evaluated in 74 consecutive patients (19 males and 55 females; aged 0–80 years). Sixty-three patients had congenital biliary dilatation and 11 did not. Type classification of congenital biliary dilatation was possible by ERCP alone in 45 patients (71%). The main causes of classification failure were previous bilio-enteric anastomosis and restriction of postural changes during ERCP due to general anesthesia in pediatric patients. Classification of anomalous junction was possible in 69 patients (93%). Technical difficulty in ERCP caused classification failure in 5 patients. Neoplastic lesions were found in 12 patients (16%) and all but 1 were correctly diagnosed by ERCP. We conclude that ERCP plays an important role in the preoperative diagnosis and type classification of anomalous pancreaticobiliary junction and congenital biliary dilatation.