Branchiootorenal (BOR) syndrome is a common autosomal dominant form of hearing impairment previously mapped to 8q. This report refines the localization of the BOR syndrome gene by haplotype analysis to the interval flanked by markers D8S553 and D8S286. By multipoint linkage analysis, the disease locus most likely is flanked by ...

Sick building syndrome was investigated in a newly built office building. Information about health complaints from the employees was obtained by means of a self-administered questionnaire. Measurements of microclimate conditions and air pollution levels confirmed that the employees' complaints were justified. Because of a high percentage of complaints, the questionnaire ...

The daily mood symptoms of four women with the premenstrual syndrome (PMS) were recorded before, and after spontaneous or induced ovarian failure. Response was assessed by iterative spectral analysis and the results compared with techniques based on changes in the mean or median mood score, or the measurement of premenstrual ...

We analyzed the metacarpophalangeal pattern profile (MCPP) of 19 individuals with Brachmann-de Lange syndrome (BDLS) and calculated a mean syndrome profile. Fourteen of 19 individuals with BDLS had significant positive correlations which indicated clinical homogeneity. Discriminant analysis of individuals with BDLS compared with a sample of normal individuals produced a ...

Dejerine's interpretation of pure alexia is routinely mentioned in all neuropsychological textbooks, yet the details of his account and the evidence on which it is based have never been subjected to a critical analysis. We provide such an evaluation in this paper, summarizing the behavioral data that Dejerine presented in ...

Forty-two schizophrenics in chronic stages were evaluated using the standard and modified SANS for negative symptoms, and the SADS for positive symptoms. The results of principal components analysis of the two scales were then compared. Analysis of the modified scale scores showed that thought disorder belonged to a unique syndrome ...

W.W. Eagle in 1937 described two patients with elongated styloid processes, cervico-facial pain and a history of pharyngeal trauma. Selected case reports are used to illustrate the spectrum of Eagle's Syndrome. An analysis of the prevailing theories of etiology and causation is undertaken correlating anatomy, embryology, and physiology to derive ...

The dysplastic nevus syndrome was conceptualized in the late 1970s, and the subsequent proposal of a genetic relationship with ocular melanoma has stimulated debate in the literature which remains unresolved. We present the case of a 60-year-old man with histologically proven sporadic dysplasic nevus syndrome and a prior history of ...

Both [3H]plasmenylethanolamine and [3H]plasmenylcholine were produced from substrates of [3H]alk-1-enylglycerol and [3H]alk-1-enyllysoglycerophosphoethanolamine by intact HL-60 cells. Molecular species analysis of the [3H]plasmenylcholine and [3H]plasmenylethanolamine formed indicated the major portion of plasmenylcholine originates from plasmenylethanolamine by a series of reactions catalyzed by phospholipase A2, lysophospholipase D, acyltransferase, phosphohydrolase, and cholinephosphotransferase. However, ...

The Scale for Assessment of Positive Symptoms was used to measure delusions and hallucinations in 115 DSM-III-R schizophrenics. Our factorial analysis of the hallucinations and delusions resulted in three factors with appropriate internal consistency and frequency: a Schneiderian delusional syndrome, an auditory hallucination syndrome, and a paranoid syndrome that tend ...

Aarskog syndrome has been mapped to Xq13 on the basis of a patient carrying an Xq13:8p21.2 translocation. We have identified a new microsatellite marker in a clone mapping to this region (HX60;DXS566). Using primers flanking this microsatellite along with primers detecting a microsatellite at PGK1P1 and DXS255, and DXS72, we ...

This paper initiates a series of communications on psychoanalytic and current psychiatric approaches to the understanding and treatment of phobic syndromes with a review and discussion of Freud's evolving ideas on phobias and anxiety. A list of issues that any theory of phobic syndromes must address is compiled on the ...

Data on headache symptoms obtained in two samples (N = 422 and 304) by means of questionnaires were subjected to configural frequency analysis (CFA). This not widely-known method tests whether certain symptom combinations appear more often or less often than expected by chance. In both samples symptom combinations corresponding to ...

The original family with the Allan-Herndon type of X-linked mental retardation has been investigated for linkage by using DNA probes spanning the length of the X chromosome. Available for study, over 3 generations, were 13 affected males, three obligate carriers, and three normal sons of the obligate carriers. Initial disease-to-marker ...

Nance-Horan Syndrome (NHS) or X-linked cataract-dental syndrome (MIM 302350) is a disease of unknown pathogenesis characterized by congenital cataracts and dental anomalies. We performed linkage analysis in three kindreds with NHS by using six RFLP markers between Xp11.3 and Xp22.3. Close linkage was found between NHS and polymorphic loci DXS43 ...

DNA extraction and Southern blot analysis of two cases of McLeod's syndrome showed restriction fragments identical to normal controls using probes from the Xp21 (1-2) region, in contrast to striking deletions found in two other McLeod phenotypes studied in the USA. The McLeod locus is adjacent to Duchenne muscular dystrophy ...

Dhat syndrome is a culture-bound sex neurosis of the Indian subcontinent. Fifty-two patients with a presenting complaint of passage of 'Dhat' in urine were studied. Diagnosis of neurotic depression, anxiety neurosis, hypochondriacal neurosis, and psychogenic impotence were made in 21, 19, 3, and 1 cases respectively. Seven patients received the ...

A 9-year, 10-month-old male presented for dental treatment planning for multiple missing permanent teeth. Panoramic radiographs revealed taurodontic permanent first molars and primary second molars. The patient was of slim build with a long lower body and moderately long fingers. Because of the presence of taurodontic teeth, chromosomal analysis was ...

Restriction fragment length polymorphic probes are being used more frequently in the molecular analysis of Down's syndrome and in the origin of nondisjunction in the syndrome. The type of information gained from RFLPs overlaps but differs from the information from cytogenetic heteromorphisms. From the allele frequencies of commonly available probes ...

This preliminary study concerns the evaluation of a chemometric technique, the so called Linear Discriminant Analysis (LDA) for an adequate nosological characterization of the more common forms of hirsutism: i.e., the Micropolycystic Ovary Syndrome (MPCO) and the Idiopathic Hirsutism (I.H.). The obtained data and, particularly, the evidence of statistically significant ...

his paper presents an analysis of the speech of five Dutch-speaking adolescent girls with Down's syndrome. The analysis includes a phonetic analysis, a substitution analysis, and a phonological process analysis. The results indicate that the speech errors of Down's syndrome adolescents are for the greater part identical to the error ...

A quantitative analysis of the mandibular bone trabeculae of 44 patients with Down's syndrome and 68 normal persons by means of panoramic tomography was performed with a laser scan system. The results showed that the normal persons exhibited a correlation between the trabecular pattern and aging, whereas the patients with ...

This study illustrates the use of a computer-assisted linguistic analysis technique to compare the spoken language of an adolescent, diagnosed in childhood as autistic, with that of normal and schizophrenic individuals. A distinctive profile, in keeping with accounts in the literature of autistic speech, was noted to be radically different ...

We analyzed the metacarpophalangeal pattern profile (MCPP) on 15 individuals with Robinow syndrome and calculated a mean Robinow syndrome profile. Correlation studies confirm clinical homogeneity of the hand profile in the Robinow syndrome. Discriminant analysis of individuals with Robinow syndrome compared with a sample of normal individuals produces a function ...

A kindred segregating for Van der Woude syndrome (VWS) through five generations is described. Biochemical and serological phenotypes at 36 polymorphic marker loci have been determined, of which 27 were informative for linkage analysis to the VWS gene (LIPED 3 computer programme). Lod scores are reported and show exclusion of ...

Clinical and psychological examinations were carried out on 30 inpatients suffering from asthmatic syndrome and 33 inpatients suffering from effort syndrome. Discrepancies between these two groups are shown with respect to the parameters examined. On the basis of the factor analysis the role and significance of psychological and social factors ...

We describe the prenatal diagnosis of a fetus at risk for mucopolysaccharidosis (MPS) Type IVA (Morquio syndrome) using enzyme analysis of chorionic villus tissue. The family had two previous affected children, one with progressive nonimmune hydrops fetalis presenting at 16 weeks gestation and one mildly affected 5 year old. The ...

Records of the emergency medical admissions to a large teaching hospital over a one year period were examined for evidence of Wernicke's encephalopathy or Korsakoff's syndrome. It was found that only 0.4% of the population studied had the classical triad of Wernicke's encephalopathy, namely confusion, ophthalmoplegia, and ataxia. If two ...

There has been long-standing debate in Australia about the role of thiamin deficiency in the aetiology of the Wernicke-Korsakoff syndrome, the prevalence of the syndrome itself and the preventive measures that might be undertaken to reduce the prevalence rates. A literature review, and the results of a study of the ...

The concentrations of arginine vasopressin (AVP), somatostatin (SS), and the primary brain metabolites of norepinephrine (MHPG), serotonin (5-HIAA), and dopamine (HVA) were measured in samples of lumbar CSF obtained from ten amnesics with Korsakoff's psychosis, four patients with a history of Korsakoff's psychosis who had recovered from the amnesic symptoms ...

The symptomatic medial patellar plica is a definite but uncommon pathologic entity. Even after complete excision of an inflamed, thickened plica, mild symptoms may persist despite considerable improvement. The plica syndrome may, in some cases, be part of a broader problem, possibly involving aberrant patellofemoral mechanics. Continued critical analysis of ...

There are few data on sweat analysis in Down's syndrome. We studied 25 children with Down's syndrome and obtained sweat samples by pilocarpine iontophoresis. Sweat osmolality was elevated in Down's syndrome compared to normal. The results of sweat testing must be regarded with caution when cystic fibrosis is suspected in ...

Golgi and computer morphometric analysis of neuronal dendrites was done on four cases, one each of Tay-Sachs disease, infantile type 2 sialidosis, Hurler's syndrome, and Sanfilippo's syndrome. There were large meganeurites on pyramidal neurons in Tay-Sachs disease, and small ones in Hurler's and Sanfilippo's syndromes. All the meganeurites in these ...

A 63-year-old man presented with paroxysmal nocturnal haemoglobinuria (PNH). After a 31 months' course of typical PNH the patient developed a type 1 (refractory anaemia) myelodysplastic syndrome (MDS) which subsequently evolved into type 5 (refractory anaemia with excess of blasts in transformation) myelodysplastic syndrome. At this time, bone marrow chromosomal ...

Linkage between the loci for fraXq of Martin-Bell syndrome and factor IX was studied in nine families exhibiting this syndrome by means of a restriction fragment length polymorphism at the factor IX locus. Computer analysis of the data indicates there to be no evidence for close linkage between the syndrome ...

In this study we have attempted to objectify the diagnosis of the borderline syndrome by the use of formal Rorschach testing criteria. The randomly selected protocols of 140 subjects between the ages of 17 and 25 were subjected to cluster analysis of currently accepted scoring criteria for such phenomena as ...

Using a sample of 170 patients the psychopathological contents of the AMP system and the Comprehensive Psychopathological Rating Scale (CPRS) were compared by canonical correlations. The nine primary AMP scales predict 86% of the variance of the three CPRS scales. 64% of the variance of the nine AMP scales is ...

Two techniques were used to seek variants of human erythrocyte transketolase and to test for any association of the Wernicke-Korsakoff syndrome, a thiamin-deficiency disease, with a particular variant of this thiamin-dependent enzyme. Apparent Km values for the cofactor thiamin diphosphate were similar for patients and controls. However, isoelectric focussing separated ...

Biological anthropologists can contribute a unique perspective as well as technical expertise to the diagnosis and classification of genetic disorders. Anthropometry has been used with increasing frequency to characterize syndromes and to establish ranges of variation within syndromes. The specific anthropometric-radiologic technique of metacarpophalangeal pattern profile analysis has proven useful ...

Fifty-two patients referred for suspicion of the Williams syndrome have been evaluated and divided into those with and without the syndrome by numerical analysis. A diagnostic index using 50 characters separates patients into two groups with an expected accuracy of 99%. An index using 40 of the characteristics is expected ...

Following a negative experience with general anesthesia, a 20-yr-old woman developed anxiety and an inability to relax concomitant with temporomandibular joint dysfunction and pain syndrome. Systematic countering of anxiety by relaxation successfully removed her anxiety and led to a complete resolution of her symptoms. Follow-up at 16 months indicated maintenance ...

The study explored associations between the cerebral event-related slow potentials (ERSP) and psychiatric symptoms and syndromes as reflected by the Present State Examination (PSE) in 36 randomly selected psychiatric in-patients. Independent raters measured the readiness potential (RP), contingent negative variation (CNV) and post-imperative negative variation (PINV) in terms of their ...

DSM-III defines and offers diagnostic criteria for organic affective, organic delusional, and organic personality syndromes but provides no organic personality syndromes but provides no organic equivalent for anxiety disorders. Nevertheless, symptoms of anxiety characterize such conditions as hyperthyroidism and pheochromocytoma. The authors define and formulate diagnostic criteria for an organic ...

With the help of Gaussian Brackets, this paper presents a paraxial study of the mechanically compensated zoom lens which consists of a fixed front component, three independently movable components, and a fixed fifth component. The expressions, which define the displacement of components at zooming, the critical point of displacement, and ...

A patient with the sick-sinus syndrome was evaluated because of symptomatic deterioration after insertion of a ventricular demand pacemaker. Clinical features of the ventricular pacemaker syndrome were recognized and confirmed by electrophysiological and hemodynamic studies. Phase analysis--a new technique for detecting patterns of cardiac emptying from gated cardiac blood-pool scintigrams--demonstrated ...

1 The effects of the putative 5-hydroxytryptamine (5-HT) receptor antagonists, methysergide, mianserin and methergoline, the dopamine receptor antagonists, haloperidol, thioridazine and clozapine, and the noradrenaline (NA) receptor antagonists, phentolamine, phenoxybenzamine and propranolol on the behavioural responses of mice to beta-phenylethylamine (PEA, 75 mg/kg) have been examined.2 PEA produced a syndrome ...

A distal humerus, a fragmentary ulna, a tibia and several partial calcanei from Oligocene sediments in the Fayum Province of Egypt are attributed to Propliopithecus chirobates. Comparison and analysis of this material indicates that this species was an arboreal quadruped. All of the skeletal elements are more similar to the ...

A total of 66 litters were farrowed in a Yorkshire herd of pigs selected for porcine stress syndrome (PSS) susceptibility. These litters included all possible combinations of matings between stress-susceptible, stress-carrier, and stress-resistant animals. When the data were analyzed by within-litter chi-square analysis, the null hypothesis of recessive inheritance could ...

Ten patients with the stable syndrome of hysteria were matched for age, sex, handedness, and full-scale WAIS IQ with ten controls, ten psychotic depressives and ten schizophrenics. All were subjected to an extensive neuropsychological test battery. Compared to the controls, the hysteria group exhibited bifrontal impairment (R = L) and, ...

A retrospective evaluation of 83 patients with Reiter's syndrome (RS) and 166 comparison arthritis patients was conducted in order to assess the preliminary criteria for definite RS. Data analysis was based on the statement that Reiter's syndrome consists of an episode of peripheral arthritis of more than 1 month duration ...