Abnormal length of cilia—a cause of primary ciliary dyskinesia—a case report

A 7-year-old Turkish boy had suffered from chronic coughing from early childhood. Severe bronchiectasis in the right lung was confirmed by bronchography. Ciliary beat frequency determined in a bronchial mucosal biopsy was markedly decreased (5.7 Hz). Electron microscopy revealed cilia with a length of 15 m. No structural abnormality was found. A possible link between the abnormally long, slow beating cilia and the clinical symptoms is discussed.     

Primary Mitral Valve Sarcoma in Infancy

Primary cardiac sarcoma is a rare tumor, found especially in children, particularly in the left side of the heart. This report describes a rare case of primary mitral valve sarcoma in a 7-month-old male infant with hemiparesis and heart murmur who underwent mitral valve replacement because of excessive invasion of the mitral valve by the tumor. The patient remains well, free of recurrence and cerebral metastasis, and without adjuvant therapy 18 months after the operation.     

Long-term follow-up of the clinical relevance of short outer dynein arms in human nasal cilia

Clinical significance of short outer dynein arms was examined in a long-term follow-up study of 76 patients with various respiratory symptoms. Clinical evaluations, nasal mucociliary transport rate (NMTR) measurement and transmission electron microscopy were performed. Follow-up examinations took place 5–11 years later. In the initial examination four patients and on follow-up seven patients were found to have short outer dynein arms in their nasal mucosal biopsies. Short dynein arms were associated with a slow NMTR, poorly coordinated ciliary beat direction, and clinical symptoms of perennial rhinitis and recurrent sinusitis. Short dynein arms were found to be a significant histologic finding and probably represent a variant of primary ciliary dyskinesia. In some cases short outer dynein arms may be a reversible finding with improving clinical symptoms. It is obvious that at least part of dynein defects are acquired. Received: 23 December 1997 / Accepted: 15 May 1998     

脾脏原发性恶性肿瘤

报告原发性脾脏恶性肿瘤7例。临床以左上腹不适，左上腹肿块及体重下降、发热、贫血、白细胞减少及血小板减少为主要特点。病理以淋巴系统及血管源性恶性肿瘤多见。治疗以手术和化疗等手段为主。早期发现、早期手术对提高疗效是非常重要的。     

Primary seminoma of the retroperitoneum

A rare case of primary seminoma in the retroperitoneum is described. Ultrasound detected a huge hypoechoic mass and correlative computed tomography showed a midline, homogeneous, lobulated mass in a man who presented for anuria. Received: 1 April 1999; Revised: 28 June 1999; Accepted: 27 July 1999     

Dipole-source analysis in a realistic head model in patients with focal epilepsy

PURPOSE: By the use of three different head models in EEG dipole analysis, we tried to model the origin of interictal and ictal epileptic activity as precisely as possible. Further, as a control, a second evaluation was made by an independent group to control for interindividual reliability of the dipole source analysis. With the realistic head model (CURRY) considering cortex, skull, and skin segmentation, the spike source was located. METHODS: In five patients with mesial temporal epileptogenesis, confirmed by successful epilepsy surgery, the spike source was close to the hippocampus, with a mean distance of the dipole source from the hippocampus of 13.6 mm (range, 9-17.2 mm). In one case the ictal EEG also could be analyzed and resulted in a dipole-source localization comparable to the interictal source. RESULTS: In both head models using either pure cortex segmentation only or a concentric three-shell model, the dipole source was systematically dislocated in a more superior position. Data analysis by a second group with independently chosen EEG samples and identical individual head model resulted in deviations of <5.3 mm. Data analysis using independently selected spikes and independently segmented head models resulted in deviations < or =16.7 mm. CONCLUSIONS: In four cases of extratemporal epileptogenesis, the origin of interictal epileptiform discharges was localized to the suspected primary epileptogenic zone.     

Assessing the Quality of Life of Adults with Chronic Respiratory Diseases in Routine Primary Care: Construction and First Validation of the 10-Item Respiratory Illness Questionnaire-Monitoring 10 (RIQ-MON10)

BACKGROUND: As doctors' judgements about the burden of a disease often differ from patients' own assessments a manageable method to incorporate the latter into routine care might support patient-centered decision-making. For this purpose we shortened the 55-Item Quality of Life for Respiratory Illness Questionnaire (QoL-RIQ). METHODS: Secondary analyses of the data of 3 controlled studies (n = 328, 502 and 555). PROCEDURES: inter-item correlations, scale distributions, Cronbach's alpha and factor analysis. Dyspnoea, forced expiratory volume in 1 s (FEV1), COOP/WONCA charts, the Medical Research Council-ECCS symptoms questionnaire and the MOS-SF 36 served as criteria to test validity and responsiveness. RESULTS: Item-reduction resulted in a 10-item short form (alpha's 0.87-0.90), consisting of 2 5-item factors: (1) physical and emotional complaints and (2) physical and social limitations. The correlations of the short form with dyspnoea (r from 0.57 to 0.60), the generic health status instruments (r from 0.39 to 0.59) and lung function (r from 0.10 to 0.15) fulfilled the criteria. FURTHER RESULTS: a clinical relevant score difference (> 0.5) between upper and lower quartiles of the convergent instruments, an intraclass correlation between repeated scores in a stable group of 0.82 and a standardised response mean of 0.86 in an improved group of patients. CONCLUSIONS: The short form (RIQ-MON10) maintained the psychometric properties of the original instrument and is promising for assessing quality of life (QoL) during routine primary care visits.     

Construct Validity of the EQ-5D in Low-Income Chinese American Primary Care Patients

OBJECTIVES: Although the EQ-5D has been used with increasing frequency to measure health-related quality of life, to date, the measure's validity has not been examined in Chinese American immigrants. We evaluated the construct validity of the EQ-5D by testing its performance with respect to sociodemographic and clinical characteristics of the population and comparing responses on the EQ dimensions with the SF-36 subscales. METHODS: The study surveyed low-income Chinese patients attending a community health center in New York City's Chinatown. Participants received self-administered versions of the EQ-5D and SF-36 and additional questions regarding demographic and clinical information. RESULTS: 856 patients were approached and data were collected from 523 patients (61%). Analysis of the EQ-5D responses by sociodemographic and clinical variables found significant differences among categories of age, gender, marital status, number of medical problems, self-rated health, and specific medical problems. Correlations between similar dimensions and subscale scores were stronger between the two measures than dissimilar ones. Patients without impairments on a given EQ dimension tended to have higher SF-36 subscale scores than patients reporting 'any' impairment (i.e. some/moderate or severe). CONCLUSIONS: The results provide initial support for the construct validity of the EQ-5D in our sample. Further studies should compare the performance of the EQ-5D with other preference-based measures in Chinese persons and examine the valuations that both low-income and Chinese persons place on core aspects of health.     

原发性肺浆细胞瘤(附1例报告)

目的 了解原发性肺浆细胞瘤的临床表现、病理表现及诊治。方法 1例左上肺孤立型病灶患者，行经皮肺穿刺活检和开胸探查术，结合有关文献及本例患者的临床资料，对本病的临床表现、病理表现及诊治进行论述。结果 本病的病理表现主要为表现为弥漫性浸润的浆细胞聚集，呈嗜碱性或嗜酸性，染色质粗，核质成熟不同步，免疫组化浆细胞为单克隆的。结论 原发性肺浆细胞瘤是一种极为罕见的肿瘤，病理检查和免疫组化可确诊。