The Small-Intestinal Mucosa in Patients with Crohn's Disease Assessed by Scanning Electron and Light Microscopy

Small-intestinal mucosal biopsy specimens obtained by a Watson capsule were, assessed by light (LM) and scanning electron (SEM) microscopy in 18 patients with various sites of Crohn's disease and in 6 healthy controls. By means of LM. partial villous atrophy of the upper small-intestinal mucosa was assessed in six patients. With the use of SEM a further seven patients were shown to have mucosal abnormalities of possible clinical significance. These specimens showed a convoluted villous pattern at low-power SEM and some also enterocyte irregularity, bulging, and surface ultrastructural distortion at medium- and high-power SEM. The medium- and high-power mucosal alterations were unevenly distributed. The high prevalence of abnormalities of the upper small-intestinal mucosa in patients with Crohn's disease elsewhere in the gastrointestinal tract adds further weight to the concept of a diffuse involvement along the entire gastrointestinal tract in Crohn's disease.     

^147Pm在睾丸的滞留诱发生殖毒性的研究

对~(147)Pm在睾丸的滞留诱发生殖毒性进行了研究。观察到~(147)Pm在睾丸内的滞留方程为:R(t)=0.1872e~(0.00661),其滞留半减期达105天,可见其在睾丸中呈持续性蓄积,很难排除。其诱发精原细胞染色体畸变,则以染色单体型畸变为主。对初级精母细胞可产生染色体断片和易位,出现多价体。~(147)Pm可诱发精子畸形,主要呈现无钩精子。并可引起活胎率下降,胚胎吸收数增加,而其诱发骨骼畸形的发生率则与睾丸中~(147)Pm的累积吸收剂量呈正相关。     

Characterization of Abnormalities Responsible for Immediate Rejection of Porcine Aortic Valves for the Manufacture of Bioprostheses

Gross observation at the slaughterhouse determines the primary selection of porcine aortic valves for the manufacture of bioprostheses. This step is critical because only valves with significant abnormalities are rejected. The present study validated this selection process by investigating the pathological characteristics of one series of accepted valves and one series of rejected valves. Macroscopy, x-ray examination, light microscopy, and scanning electron microscopy (SEM) were performed on 5 initially rejected valves, 3 leaflets from 3 other initially rejected valves, and 6 valves that successfully passed this first step in the selection process. Abnormalities were macroscopically visible only on the rejected valves and were described as thick white areas, heavy white striations, thin spots, white plaques, and nodules. Individual variability in the structure of each leaflet was more significant in the rejected valves than in the valves that had passed the first inspection. The leaflets of the rejected valves were also irregularly thick with a lack of consistency in the position and prominence of the different layers. The formation of nodules and the presence of white plaques in the inner fibrosa layer were among the pathological features. The initially accepted valves considered defect free under gross observation continued to display some weaknesses, and not all of the valves selected during the first step of the process were suitable to become bioprostheses. Because the manufacturer carries out further quality control inspections at every step of preparation resulting in additional rejections, it is therefore anticipated that all valves with defects will be rejected. None of the rejected valves were defect free, and rejection was fully justified.     

Absence of the clitoris in a 13-year-old adolescent: medical implications for child and adolescent health

BACKGROUND: Isolated absence of the clitoris is a rare entity with medical and sexual implications for patients. CASE: As part of an examination for alleged sexual abuse, a 13-year-old female was noted to have an apparent absence of the clitoris. Congenital absence of the clitoris was felt to be the most likely diagnosis. The differential diagnosis and medical implications are reviewed. CONCLUSION: Isolated absence of the clitoris is a rare entity. When faced with the finding, a detailed medical evaluation should be performed to clarify the nature of the finding, rule out other potential anomalies and help in the counseling of the patient.     

Urinary tract malformation in the XYY male

Phenotypic expression of the 47,XYY chromosome complement in man has been investigated mostly in terms of the central nervous system. Evidence is presented here to suggest that urinary tract malformation may be a component of the XYY syndrome; this should be taken into account when counselling parents of children with this chromosome anomaly, and in making decisions when an affected foetus is diagnosed antenatally.     

小儿单纯性阴茎下弯的手术治疗

小儿先天性单纯阴茎下弯１８例，年龄２－１３岁，Ⅰ型６例，Ⅱ型９例，Ⅲ型３例。用两种术式进行矫正，１４例一期治愈。４例发生尿瘘或弯曲矫正欠满意。对两种术式的疗效比较，尿道松解术简单易行，并发症少，不需膀胱造瘘，疗效较好，可作疗先天性阴茎下弯的首选术式。对并发症发生的原因和预防进行讨论。     

Potential Implications of Slim Modiolar Electrodes for Severely Malformed Cochleae: A Comparison With the Straight Array With Circumferential Electrodes

ObjectivesMalformations of the inner ear account for approximately 20% of cases of congenital deafness. In current practice, straight arrays with circumferential electrodes (i.e., full-banded electrodes) are widely used in severely malformed cochleae. However, the unpredictability of the location of residual spiral ganglion neurons in such malformations argues against obligatorily using full-banded electrodes in all cases. Here, we present our experience of electrically evoked compound action potential (ECAP) and radiography-based selection of an appropriate electrode for severely malformed cochleae.MethodsThree patients with severely malformed cochleae, showing cochlear hypoplasia type II (CH-II), incomplete partition type I (IP-I), and cochlear aplasia with a dilated vestibule (CADV), respectively, were included, and the cochlear nerve deficiency (CND) was evaluated. A full-banded electrode (CI24RE(ST)) and slim modiolar electrode (CI632) were alternately inserted to compare ECAP responses and electrode position.ResultsIn patient 1 (CH-II with CND), who had initially undergone cochlear implantation (CI) using a lateral wall electrode (CI422), revision CI was performed due to incomplete insertion of CI422 and resultant unsatisfactory performance by explanting the CI422 and re-inserting the CI24RE(ST) and CI632 sequentially. Although both electrodes elicited reliable ECAP responses with correct positioning, CI24RE(ST) showed overall lower ECAP thresholds compared to CI632; thus, CI24RE(ST) was selected. In patient 2 (IP-I with CND), CI632 elicited superior ECAP responses relative to CI24RE(ST), with correct positioning of the electrode; CI632 was chosen. In patient 3 (CADV), CI632 did not elicit an ECAP response, while meaningful ECAP responses were obtained with the CI24RE(ST) array once correct positioning was achieved. All patients’ auditory performance markedly improved postoperatively.ConclusionThe ECAP and radiography-based strategy to identify an appropriate electrode may be useful for severely malformed cochleae, leading to enhanced functional outcomes. The practice of sticking to full-banded straight electrodes may not always be optimal for IP-I and CH-II.     

颅锁骨发育不全1例

患儿男,5岁,因反复头痛就诊。查体:头大面小,前额及顶部突出,囟门增大未闭,眼距增宽,鼻梁低。两肩下垂,肩关节活动度大,双肩在胸前可靠拢。胸廓上窄下宽。无明显智力减退。实验室检查未见异常。X线鼻旁窦、柯、瓦氏位、头颅侧位、     

Anomalous Origin of the Left Coronary Artery from the Pulmonary Artery: Diagnoses and Surgical Results in 12 Pediatric Patients

Anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) is a rare congenital condition. It responds well to early diagnosis and treatment, but otherwise the prognosis is poor. We present our case series of 12 patients (mean age, 2 ± 2.58 yr; age range, 2 mo–8 yr), emphasizing the diagnostic process and discussing our surgical results. The diagnosis of ALCAPA should be suspected in infants who have dilated cardiomyopathy with electrocardiographic changes that suggest ischemia, and in older children who have isolated mitral regurgitation. When clinical suspicion is high, the results of 2-dimensional echocardiography combined with color-flow Doppler studies in expert hands can establish the diagnosis, thus avoiding angiography in critically ill infants. The treatment of choice in our patients was transfer and reimplantation of the left coronary artery onto the ascending aorta. There were 2 deaths: both were infants in extremis who underwent emergency surgery. An older child with severe ventricular dysfunction was given mechanical ventricular assistance and then heart transplantation. As of this report, all 10 survivors remained well and asymptomatic.     

Down Syndrome with Complete Atrioventricular Septal Defect,Hypertrophic Cardiomyopathy,and Pulmonary Vein Stenosis

The prevalence of congenital heart disease in infants with Down syndrome is 40%, compared with 0.3% in children who have normal chromosomes. Atrioventricular and ventricular septal defects are often associated with chromosomal aberrations, such as in trisomy 21, whereas hypertrophic cardiomyopathy is chiefly thought to be secondary to specific gene mutations. We found only one reported case of congenital hypertrophic cardiomyopathy and atrioventricular septal defect in an infant with Down syndrome. Here, we report atrioventricular septal defect, hypertrophic cardiomyopathy, and pulmonary vein stenosis in a neonate with Down syndrome—an apparently unique combination. In addition, we discuss the relevant medical literature.