A case of Kallmann syndrome: diagnostic usefulness of cranial magnetic resonance imaging

We report a case of Kallmann syndrome in which the cranial magnetic resonance imaging (MRI) findings of the olfactory tract were useful in making the diagnosis. A 20-year-old male who complained of delayed puberty was referred to our hospital in November 1998. He presented with hypogonadism and anosmia. The plasma levels of testosterone, luteinizing hormone (LH) and follicle stimulating hormone (FSH) were low. Pituitary and Leydig cell functions were normal by the LH-releasing hormone test and human chorionic gonadotropin (hCG) loading test, respectively. The karyotype was normal (46, XY). The smell test showed anosmia. After administration of hCG, a good response of plasma testosterone level and masculinization were recognized. Cranial MRI findings revealed an absence of olfactory bulbs and hypoplastic olfactory sulci. These MRI findings are characteristic of Kallmann syndrome and allowed us to confirm our diagnosis, in addition to classically used endocrinological and olfactory examination.     

A case of Kallmann syndrome with bilateral calcifications at the basal ganglia

A twenty-year-old male with hematoemesis was transported to our department in an unconscious state. His past history was epilepsy in infancy and the evacuation of an undescended testis for cryptochidism at three years of age. His familial history included duodenal ulcers and amyotrophic lateral screlosis among his relatives on his father's side of the family. On arrival, he demonstrated a sleeping tendency regardless of his stabilized vital signs. He had experienced a delayed puberty. A head CT examination revealed bilateral calcification at both the globus pallidus, caudate nucleus and periventricular regions, and an endoscopic study showed a duodenal ulcer. An EEG depicted a 2 Hz spike and slow waves in the occipital areas. An endocrinological examination demonstrated a low value of free testosterone and follicle stimulating hormone (FSH). The FSH and luteinizing hormone (LH) both demonstrated a hypo-reaction to the LH-releasing hormone test. A head MRI revealed bilateral olfactory bulb aplasia while the venous olfactory test with thiamine propyldisulfide was negative. Accordingly, he was diagnosed to have Kallmann syndrome. A follow-up endoscopic examination exhibited an improvement in his ulcer and he was also discharged on the 13th hospital day. Kallmann syndrome should thus be included in the differential diagnosis when young individuals present with calcifications in the basal ganglia.     

A validated rating scale for hyperkinetic facial lines

OBJECTIVE: To test the reliability of a simple rating system to describe hyperkinetic facial lines. METHODS: A rated numeric kinetic line scale was developed and presented to 11 postresidency physicians specializing in aesthetic facial care. These physicians independently reviewed photographs of 20 patients, first at rest, then with activation of the frontalis, corrugator, and orbicularis oculi muscles. Kappa statistics for multiple raters were used to assess interobserver reliability. RESULTS: The nonweighted kappa values were between 0.4 and 0.8 for the frontalis, corrugator, and orbicularis muscle groups. This represents moderate to substantial observer agreement and is highly significant for each muscle group. CONCLUSIONS: A new rating scale for hyperkinetic facial lines accounts for facial appearance at rest and with expression. It is easily used and has interobserver reliability. As the only objective and validated scale for hyperkinetic facial lines, this rated numeric kinetic line scale is recommended for the evaluation of pretreatment and posttreatment results in patients undergoing therapy for this problem. Moreover, an alternative scale rating resting and kinetic lines as independent variables is also being developed. Both must be considered to evaluate treatment outcomes when using neurotoxins.     

神经根型颈椎病生存质量量表的研制与考评

目的研制并考评神经根型颈椎病生存质量评价量表。方法在条目筛选的基础上,通过临床调查,从信度、效度和反应度三方面对量表进行考评。结果信度：两次测量各条目斯皮尔曼相关系数均大于0.7;各维度、总量表的Cronbach’s系数均大于0.70。效度：各维度得分与量表总分相关系数均大于0.70;量表模型的拟合优度指数（CFI）为0.895;除了心理功能之外,NDI量表总分与生存质量量表各维度以及总分的相关系数都大于0.7。反应度：第一次测量和第14天测量各维度以及生存质量量表总分t检验结果都显示存在显著性差异。结论该量表具有较好信度、效度和反应度,可尝试作为神经根型颈椎病生存质量评价量表。     

The aging males' symptoms scale for Japanese men: reliability and applicability of the Japanese version

We aimed to confirm the reliability of the Japanese version of the Aging Males' Symptoms rating scale (JPN-AMS) and its applicability in patients with testosterone deficiency syndrome (TDS)-like symptoms, comparing it for young, middle-aged and elderly Japanese men. The study included 93 patients with TDS-like symptoms, 39 men younger than 30 years old, and 125 normal men 40 years old and older, who agreed to respond to a self-administered questionnaire using the JPN-AMS. Testing-retesting was done to confirm the reliability of the questionnaire, with a 2-week interval between tests. The total AMS score and three domain scores were clearly higher in patients with TDS-like symptoms than in young men and in normal males, respectively. The test-retest analysis showed good reliability and internal consistency for the JPN-AMS. The JPN-AMS can be reliably used for measuring health-related quality of life of aging Japanese males.     

A validated subjective rating of display quality: the Maryland Visual Comfort Scale

Background  

Minimally invasive surgery requires high-quality imaging to provide effective visual displays to surgeons. Whereas objective measures—pixels, resolution, display size, contrast ratio—are used to compare imaging systems, there are no tools for assessing the perceptual impact of these physical measures. We developed the “Maryland Visual Comfort Scale” (MVCS) to measure perceptual qualities in relation to an imaging system. We theorize that what the surgeon perceives as a high-quality image can be summarized by a scoring of seven characteristics related to human perception, and that image quality is not homogenous across a video display such that object location impacts perception and display quality.     

A statistical method for analyzing rating scale data: the BBB locomotor score

The Basso, Beattie and Bresnahan (BBB) locomotor rating scale is widely used to test behavioral consequences of spinal cord injury (SCI) to the rat. Sensitivity of this rating scale can differentiate hind limb locomotor skills over a wide range of injury severities. While the 21-point BBB scale is ordinal in nature, the present discussion recommends the use of parametric statistics to evaluate the locomotor results. Specifically, it defines appropriate statistical analysis of these data in order to facilitate interpretation of results between laboratories and to provide a common methodology for the correct interpretation of SCI behavioral data.     

Kallmann综合征分子遗传学研究进展

Kallmann综合征(KS)是一种临床和遗传异质性疾病,呈家族性或散发性发病。KS是由胚胎时期嗅球、嗅束的异常发育致使GnRH-1神经细胞不能完成从鼻基板迁移至下丘脑这一过程所引起。GnRH分泌不足导致低促性腺激素性腺功能减退,嗅球、嗅束的异常发育或缺如引起嗅觉丧失。除上述典型症状外,KS患者还可以表现出一些非生殖和非嗅觉表型。KS分子遗传学机制十分复杂,目前只有6个KS致病基因被鉴定。KAL1基因与KS的X连锁隐性遗传模式相关。成纤维细胞生长因子受体1基因(FGFR1/KAL2)和成纤维细胞生长因子8基因(FGF8/KAL6)与常染色体显性遗传模式有关。但是这6个基因的突变只能解释25%~30%的KS病例,提示还有其他KS致病基因有待发现。本文就KS致病基因的研究进展、临床诊断和治疗作一综述。     

Correlation of electrodiagnostic findings with subjective symptoms in carpal tunnel syndrome

The records of 138 patients (222 hands) who had been evaluated by preoperative nerve conduction study (NCS) and consecutive self-administered questionnaires were analyzed to determine diagnostic relations in carpal tunnel syndrome. Hands were categorized into six grades (extreme, severe, moderate, mild, minimal, and negative) according to the three modalities: the NCS data of the median sensory nerve, Symptom Severity Scale score, and Functional Status Scale score. The authors evaluated the correlation, independence, homogeneity, and association among parameters, and found the following: (1) the NCS data correlated more significantly (p < 0.05) and was associated more linearly with Symptom Severity Scale score than the Functional Status Scale score; (2) the choice of modality exerted an influence on grading severities, thus grades varied according to the modalities; and (3) the distribution of patients was not homogenous; there were more extremes in NCS, and more severe scores on the Symptom Severity Scale. Patients rated as one homogeneous severity by NCS data may be interpreted into different severities (from negative to extreme) by self-administered questionnaires and vice versa.     

Clinical assessment and genomic landscape of a consanguineous family with three Kallmann syndrome descendants

Although some genes that cause Kallmann syndrome (KS) have been identified by traditional linkage analysis and candidate gene techniques, the syndrome's molecular etiology in the majority of patients remains poorly understood. In this paper, we present the clinical assessments of a consanguineous Han Chinese family with three KS descendants. To understand the molecular etiology of KS from a genome-wide perspective, we investigated the genome-wide profile of structural variation in this family using the Affymetrix Genome-Wide Human SNP Array 6.0 platform. The results revealed that the three affected individuals had common copy number variants (microdeletions) on chromosomes 1p21.1, 2q32.2, 8q21.13, 14q21.2 and Xp22.31. Moreover, the copy number variants on Xp22.31 were located in the intron of KAL1, which causes X-linked KS. Two PCR assays were performed on these regions to validate the results obtained using the chips. In addition, genomic microdeletions in this region were verified in one of 29 Han Chinese sporadic KS cases and one of four other family cases, but not in 26 Han Chinese sporadic normosmic idiopathic hypogonadotropic hypogonadism cases and 100 unrelated Han Chinese normal controls. Our results provide a novel insight into the relative contributions of certain copy number variants to KS's molecular etiology and generate a list of interesting candidate regions for further studies.     

Online assessment of ALS functional rating scale compares well to in-clinic evaluation: a prospective trial

Self-assessment of symptom progression in chronic diseases is of increasing importance in clinical research, patient management and specialized outpatient care. Against this background, we developed a secure internet platform (ALShome.de) that allows online assessment of the revised ALS Functional Rating Scale (ALSFRS-R) and other established self-assessment questionnaires. We developed a secure and closed internet portal to assess patient reported outcomes. In a prospective, controlled and stratified study, patients conducted a web-based self-assessment of ALSFRS-R compared to on-site assessment. On-site and online assessments were compared at baseline (n = 127) and after 3.5 months (n = 81, 64%). Results showed that correlation between on-site evaluation and online testing of ALSFRS-R was highly significant (r = 0.96; p < 0.001). The agreement of both capturing methods (online vs. on-site) was excellent (mean interval, 8.8 days). The adherence to online rating was high; 75% of patients tested on-site completed a follow-up online visit (mean 3.5 months, SD 1.7). We conclude that online self-assessment of ALS severity complements the well-established face-to-face application of the ALSFRS-R during on-site visits. The results of our study support the use of online administration of ALSFRS-R within clinical trials and for managing the care of ALS patients.     

A case of supravalvular pulmonary stenosis associated with Noonan's syndrome: usefulness of Doty's operation]

A twelve-year-old boy associated with Noonan's syndrome is reported. He had supravalvular pulmonary stenosis with a very high right-ventricular pressure, higher than that of systemic. Surgical treatment was performed to the supravalvular pulmonary stenosis with the technique of Doty's operation for supravalvular aortic stenosis, brought an excellent results. The gradient between the right ventricle and the pulmonary artery fell from 97 mmHg to 30 mmHg. The residual gradient is caused by functional infundibular stenosis. Doty's operation is a useful method for the operation of severe supravalvular pulmonary stenosis, too.     

Post-concussive syndrome: paraclinical signs, subjective symptoms, cognitive functions and MMPI profiles

In order to investigate the organic and psychogenic components of post-concussive syndrome (PCS), the subjective complaints, the cognitive findings and the Minnesota Multiphasic Personality Inventory (MMPI) profiles of 53 consecutive mild head injury patients (MHI) with persistent PCS were evaluated. The results seem to suggest the presence of two groups: in the first, minimal lesional signs were associated with more prolonged loss of consciousness (LC) and post-traumatic amnesia (PTA), as well as an MMPI profile not indicative of a neurotic state, whereas in the second the absence of any lesional sign was associated with shorter LC and PTA duration, as well as evidence of neurotic MMPI scores. A female prevalence was observed in the first group and a male prevalence in the other one.     

A universal global rating scale for the evaluation of technical skills in the operating room

BACKGROUND: The ideal assessment of technical skills should be defensible and practical. The purpose of this study was to evaluate the utility of a Global Rating Scale (GRS) Assessment tool of resident operating room performance. METHODS: Residents were assessed in the operating room on multiple occasions during a 6-month study period using a 9-item GRS. Data were analyzed to assess scale reliability and sensitivity to year of training. Feasibility was evaluated with a post-study questionnaire. RESULTS: Seven residents had a total of 32 procedures assessed. One-way analysis of variance (ANOVA) showed that scores increased with year of training (P = .009). Reliability was excellent. (Cronbach's alpha .91). The post-study survey identified feedback and faculty interaction as strengths of this tool, but time constraint was a barrier. CONCLUSIONS: The GRS tool is a valid and reliable method that has the potential to be a practical, useful assessment tool of resident operating room performance.     

护理人员健康教育能力测评量表的研制与检验

目的研制护理人员健康教育能力测评量表,为测评护理人员健康教育能力提供工具。方法通过文献回顾,构建护理人员健康教育能力测评量表的框架,经专家咨询,初步制定测评量表。使用预测量表对306名护士进行调查,测量量表的信度和效度。结果经过项目分析保留了含有38个条目的量表测试版,量表总体的Cronbach′α系数和分半信度系数分别为0.949和0.935;专家对量表评定的内容效度指数为0.90;结构效度分析显示理论结构和假想结构基本符合。结论护理人员健康教育能力测评量表具有较好的信度和效度,可用于测评护理人员的健康教育能力。