Klinefelter's Syndrome: Hypogonadism,abnormal carbohydrate metabolism. Is it a result of biotin deficiency?

The aetiology of Klinefelter's Syndrome is not known. The causative factor(s) must explain the hypogonadism, low androgen levels, the disordered carbohydrate metabolism and the commonly associated psychiatric conditions. A biotin deficient/dependent state can account for the above. A biotin deficient Klinefelter's Syndrome patients with the above is described. The possible role of biotin in the primary, secondary and tertiary prevention of Klinefelter's Syndrome needs further research.     

The structure of memorized knowledge in students and clinicians: an explanation for diagnostic expertise

This paper provides for the first time evidence of a consistent difference in the memory structures of novice and expert clinicians. The diagnostic performance of first- and third-year clinical medical students, senior house officers, registrars and consultants on four clinical problems in general medicine was studied. Comparisons were made of all diagnostic interpretations offered and the forceful features (personally important pieces of information which act as a key to particular memory structures which in turn give rise to the clinical interpretation) from which these were derived. Results demonstrate that the numbers of interpretations made and the numbers of forceful features identified did not differ significantly between groups (P greater than 0.05). However, the actual interpretations made in three out of four cases, and the actual forceful features identified in all cases, did differ significantly between groups (P less than 0.05). The numbers of interpretations made by all groups were large and demonstrated enormous variability. Highly individualized multiple responses to clinical information are associated with easy diagnoses. We conclude that there is no difference between groups of differing clinical experience in the breadth of thought but that there are marked differences in the precise content and structure of thought. This allows coherent explanation of variation in diagnostic expertise with clinical experience. The significance of the findings is discussed.     

Application of fluorescence in situ hybridization techniques in clinical genetics: use of two alphoid repeat probes detecting the centromeres of chromosomes 13 and 21 or chromosomes 14 and 22, respectively

Two cloned DNA fragments, one derived from an alpha satellite subfamily common to chromosomes 13 and 21, and the other derived from a similar subfamily common to chromosomes 14 and 22, have been used as biotinylated probes in in situ hybridization studies. Under high stringency conditions, chromosome specific centromeric labelling can be obtained. The applications of this technique in clinical situations are illustrated on metaphases from a fetus with trisomy 21, a fetus with trisomy 13, and a child with clinical features of cat-eye syndrome.     

An analysis of paediatric diagnostic decision-making: how should students be taught?

This study assesses the relative importance of history, examination and investigations in paediatric diagnosis, in the Paediatric Out-patient Department of the Central Middlesex Hospital, London, by means of a questionnaire-based record of 94 consecutive referrals. A diagnosis identical to the final diagnosis was made in 76% of referrals after taking a history. The general practitioner had proposed a diagnosis in 45% in the referral letter. Clinical examination changed the diagnosis in only 15% but increased diagnostic confidence in 33%. Ninety-one per cent of cases were diagnosed without recourse to investigations. Forty-two per cent of children referred had investigations performed. In the majority of paediatric cases the provisional diagnosis reached after taking a history was identical to that after examination or results of investigations were known. Although examination provided a final diagnosis in only 15% of all cases it played an important role in adding confidence in 33%. More educational effort should therefore be directed at clinical history-taking skills and the subsequent purpose of examination.     

Neuropsychologic symptoms in the migraine syndrome

Twenty patients with complex neuropsychologic symptoms associated with classic migraine were selected from a group of 200 patients with vascular headache. Twenty types of symptoms were found and grouped into six categories (language, visual symptoms, cognitive-dysmnesic symptoms, olfactory-gustatory hallucinations, automatisms, and somatosensory symptoms). Some of the symptoms found have apparently not been reported previously. The importance of the analysis of this complex neuropsychologic set of symptoms and of the possible consequences of complicated, frequent vascular headache is emphasized.     

Comparison of 2 chlorhexidine mouthwashes on plaque regrowth in vivo and dietary staining in vitro

Abstract Until recently, the few available chlorhexidine mouthrinse products have been 0.2% formulations. However, concentrations of 0.12% chlorhexidine appear as effective as 0.2%, if the volume of the rinse is increased to 15 ml. Since the mere incorporation of chlorhexidine in a formulation does not guarentee availability of the antiseptic, it would seem reasonable to evaluate or compare all products. This is particularly the case when other ingredients, such as fluoride are added. The 1st study compared the effect of a 0.12% chlorhexidine rinse with a 0.12% chlorhexidine/0.022% sodium fluoride rinse for effects on plaque re-growth. The study was a 7-day, blind, randomised, 2-cell cross-over design with a baseline control run in period, in which 18 subjects participated. Both chlorhexidine products significantly reduced plaque compared to control but the chlorhexidine fluoride rinse was less effective than the chlorhexidine only rinse. The 2nd study assessed the propensity of the chlorhexidine rinses to induce dietary staining in vitro. For the chlorhexidine fluoride rinse, this was less than the other 0.12% rinse and a commonly used 0.2% product. The data in vivo and in vitro suggest reduced chlorhexidine availability from the chlorhexidine fluoride product which appears to cause some loss of efficacy.     

Clinical course and outcome of cycloid psychotic disorder: a three-year prospective study

The course and outcome of cycloid psychotic disorder was explored by means of a prospective three-year follow-up of a sample of patients fulfilling the diagnostic criteria for the disorder provided by Perris & Brockington, compared to patients with a diagnosis of affective or schizoaffective disorder. The most striking difference between cycloids and affectives was the lack of manic episodes during the follow-up period in the former group. Moreover, the mean age at onset was lower in cycloids. No difference between these patient groups was observed with regard to outcome. Compared to schizoaffectives, cycloids showed several differences in the clinical picture during the index episode, and their symptomatological pattern was more consistent from one episode to another during the follow-up. Moreover, the outcome of cycloids was significantly more favourable than that of schizodepres-sives.     

Monitoring of skin response to sodium lauryl sulphate: clinical scores versus bioengineering methods

The present trial was designed to evaluate clinical scores (single observer) of sodium lauryl sulphate (SLS)-induced skin irritation in a group of subjects (n = 10) over a 10-day period along with various skin function parameters. In order to avoid significant variations due to secondary phenomena, the following parameters were recorded with non-invasive instruments in this order: skin capacitance (C1; arbitrary units; CM420 Corneometer), transepidermal water loss (TEWL; g/m2.h; Evaporimeter) and laser Doppler flowmetry (CBFV: cutaneous blood flow values; Periflux). All examinations were performed during winter on reclined relaxed subjects present for at least 10 min in a test room with controlled temperature and relative humidity (t degrees: 19.5-20.7 degrees C and RH: 47.3-60.3%). The analysis of differential data (delta = value at tx-value before test; 2-way ANOVA) was made on single parameters as a function of site (volar forearm versus neck) and time (from 24 h after 48-h occlusion with 5% SLS up to 10 days later). The profile of erythema scores over time differed between neck and forearm, but the delta CBFV readings with the laser Doppler instrument did not detect significant site-time interactions. Roughness (blind evaluation with palpating finger) and capacitance readings (delta C1) showed significant differences between sites, but the profile over time was similar in both locations. delta TEWL did not differ according to anatomical location. The reason for different erythema scores on neck and forearm might be related to inherent regional variation of optical properties of the skin or to a substantial contribution of SLS-induced roughness to the readings of erythema.(ABSTRACT TRUNCATED AT 250 WORDS)     

Evaluation of stroke rehabilitation by randomized controlled studies: a review

In all, 22 reports of 20 randomized, controlled rehabilitation studies were evaluated. In 18 of these, the design of the trial was parallel, with a cross-over format being employed in the remaining 2 instances. Seven studies related to intensive rehabilitation during the early post-acute period. In six others, specific techniques--sometimes associated with traditional physiotherapy procedures--were compared: biofeedback, perceptual retraining, and amphetamine treatment. Eight experiments evaluated speech therapy in aphasia. Frequently, methodological considerations limited the interpretation of the results. The review showed that: 1) as regards activities of daily life and motor function, differences as between rehabilitation in stroke units on the one hand and non-rehabilitation or rehabilitation in medical wards on the other, were detected in relatively few quality studies and remained particularly inconclusive insofar as life in the home environment was concerned; 2) rehabilitation for aphasia and perceptual dysfunction proved effective for at least several months after acute stroke; 3) in general, examination of the reports cited revealed no differences in the effects of biofeedback and perceptual retraining vs conventional physiotherapy; 4) rehabilitation, whether administered by specialists or amateur caregivers purpose-trained by specialists, proved equally effective for aphasia. These conclusions constitute a valuable basis for the development and evaluation of modern rehabilitation programs for stroke patients.