Waardenburg syndrome: clinical differentiation between types I and II

Here we present the results of a study performed on 59 patients affected by Waardenburg syndrome (WS), 30 with the I variant, 21 having the type II, and 8 of them being isolated cases without telecanthus. These patients belong to 37 families; the main contributions and conclusions are based on the detailed study of 25 of these families, examined using standard procedures. All patients were examined as to the presence of eight cardinal signs important for the diagnosis of the condition; from each patient, from many of his/her normal relatives, and from a control sample of 300 normal individuals stratified by age and sex, 23 different craniofacial measurements were obtained. We also estimated, using our own data as well those collected from the literature, the frequencies of the cardinal signs, based on a total sample of 461 affected individuals with WSI and 121 with WSII. In order to originate discriminant functions to separate individuals affected by one of the two variants, both metric (from craniofacial measurements) as well as categoric data (based on the frequencies of the cardinal signs or symptoms) were used. Discriminant analysis based on the frequency of the eight cardinal signs can improve the separation of WSI patients without telecanthus from those presenting the variant II. We present also a Table with the conditional probabilities favoring the diagnosis of WSI for suspect subjects without telecanthus and any combination of the other seven signs/symptoms. The discriminant function based on the four ocular measurements (inner and outer intercanthal, interpupillary, and inferior lacrymal distances), on the other side, perfectly classifies patients affected by one of the variants of WS, the same taking place when the average values of the W index of all affected individuals per family are used. The discriminant function based solely in the individual W index values of patients correctly classifies 93% of WSII subjects, but only 60% of the patients with the I variant of WS.     

Colour Doppler changes and thromboxane production after ovarian stimulation with gonadotrophin-releasing hormone agonist

The objective of this study was to evaluate the Doppler flow variations which occur following the use of different protocols of ovarian stimulation in an IVF programme, and to investigate the thromboxane production by cultured endometrial cells and its influence on embryo implantation. A total of 60 patients underwent three different ovarian stimulation protocols: long gonadotrophin-releasing hormone agonist (GnRH-a), short GnRH-a and no GnRH-a. Transvaginal ultrasonography and colour Doppler analysis were performed before and during the treatment. On the day that the Doppler examination took place, luteinizing hormone, follicle stimulating hormone, plasma oestradiol and thromboxane concentrations were assayed. On the day of oocyte retrieval, endometrial cells were collected and cultured, and their thromboxane production evaluated. No significant differences in hormonal, ultrasonographic or Doppler parameters were observed between the three groups. Ten out of 56 patients who had a successful embryo transfer became pregnant. In the group of pregnant women the pulsatility index values of both uterine and spiral arteries was lower than in non-pregnant patients, and was associated with significantly lower thromboxane concentrations from cultured endometrial cells. It is concluded that thromboxane plays a role in embryo implantation, and that Doppler flow analysis of uterine and spiral arteries in infertile patients may be important in the management of ovarian stimulation.      

Regulation of DAF-2 receptor signaling by human insulin and ins-1, a member of the unusually large and diverse C. elegans insulin gene family

The activity of the DAF-2 insulin-like receptor is required for Caenorhabditis elegans reproductive growth and normal adult life span. Informatic analysis identified 37 C. elegans genes predicted to encode insulin-like peptides. Many of these genes are divergent insulin superfamily members, and many are clustered, indicating recent diversification of the family. The ins genes are primarily expressed in neurons, including sensory neurons, a subset of which are required for reproductive development. Structural predictions and likely C-peptide cleavage sites typical of mammalian insulins suggest that ins-1 is most closely related to insulin. Overexpression of ins-1, or expression of human insulin under the control of ins-1 regulatory sequences, causes partially penetrant arrest at the dauer stage and enhances dauer arrest in weak daf-2 mutants, suggesting that INS-1 and human insulin antagonize DAF-2 insulin-like signaling. A deletion of the ins-1 coding region does not enhance or suppress dauer arrest, indicating a functional redundancy among the 37 ins genes. Of five other ins genes tested, the only other one bearing a predicted C peptide also antagonizes daf-2 signaling, whereas four ins genes without a C peptide do not, indicating functional diversity within the ins family.     

Antibodies to staphylococcal enterotoxins and toxic shock syndrome toxin 1 in sera of patients and healthy people in Rio de Janeiro, Brazil.

Sera from 33 persons with staphylococcal infections and from 37 healthy persons were surveyed for the presence of antibody to staphylococcal enterotoxins A, B, C, D, and E and toxic shock syndrome toxin 1. Thirty-one (93.9%) of the patients and 35 (94.6%) of the control group had antibodies to one or more of the enterotoxins. The numbers of patients with antibody to the enterotoxins were as follows: A, 8; B, 9; C, 7; D, 17; E, 21; and toxic shock syndrome toxin 1, 11. The numbers of healthy individuals with antibody to the enterotoxins were as follows: A, 6; B, 12; C, 8; D, 27; E, 21; and toxic shock syndrome toxin 1, 9.     

Eel calcitonin induces creatine kinase BB activity in the rat kidney medulla.

We have studied the effect of intravenous injection of eel calcitonin (ECT) on creatine kinase E.C.2.7.3.2. BB isozyme (CKBB) in the kidney of male Wistar rats. CKBB immunoreactivity was detected by the peroxidase-antiperoxidase method. Eel calcitonin increased CKBB immunoreactivity in the renal medulla in a dose-dependent fashion. Its effect peaked at 2 h and lasted up to 24 h. The distribution of activated CKBB in the kidney occurs in the same areas where highly specific CT-binding sites have been previously demonstrated, and is in agreement with the current concepts on renal actions of this hormone.     

A behavioral analysis of chest pain in patients suspected of having coronary artery disease

A group of 83 men and women who had been referred to Johns Hopkins Hospital for cardiac catheterization for evaluation of chest pain and possible coronary artery bypass surgery were assessed behaviorally for their chest pains. During the approximately 2-week period between clinical evaluation and catheterization, the patients completed self-report forms about their chest pains. Patients completed one form for each episode of chest pain. Referring physicians also completed a form about the patients "typical" chest pain. The data were analyzed in terms of the antecedents, concomitants, and consequences of the chest pain, and patients' reports were compared to physicians' judgments. Major findings were as follows: 1) Antecedents--most episodes occurred while the patient was at home at times when his mood was one of contentment. 2) Concomitants--the average patient reported fewer than one episode per day which persisted for about 4 min and was rated as 36 on a scale of 0 to 100. The most common physical symptoms accompanying the episode were breathlessness and weakness, and the most common pain sensations were reported to be pressing or aching. There was no consistency among patients either in primary location or path of radiation of the pain. Duration of pain did not correlate significantly either with sensation or symptoms; however, severity rating did correlate with symptoms and sensations. 3) Consequences--most episodes were self-treated with nitroglycerin or rest. Patients typically returned to their ongoing activities; however, there were a number of interactions between the likelihood of returning to ones ongoing activity and the antecedents of the episodes. 4) The referring physicians significantly overestimated the frequency and severity of their patients' episodes; furthermore, they were selective in their abilities to identify correctly the antecedents or concomitants associated with their patients' pain--e.g., they were reliable in their judgments about subjects who had sleep-related episodes; however, they were inaccurate in characterizing the typical sensations or symptoms reported by their patients. It is suggested that a behavioral analysis may enable a physician to characterize his patient's chest complaints better, and perhaps also may facilitate the differentiation between chest complaints indicative of coronary artery disease and chest complaints of a noncoronary origin.     

Excitatory synaptic potentials due to activation of neurons with short projections in the myenteric plexus

Intracellular microelectrodes have been used to examine the effects, on excitatory inputs to myenteric nerve cells, of lesions of intrinsic pathways in the myenteric plexus of the guinea-pig small intestine. The lesions consisted of circumferential cuts (myotomies) which severed the external musculature to the depth of the submucosa and thus interrupted pathways in the myenteric plexus. Sufficient time was allowed between creating the lesions and recording from the neurons for the endings of severed neurites to degenerate and this was confirmed histochemically by examining the distribution of varicose fibres with 5-hydroxytryptamine immunoreactivity in myenteric ganglia from which recordings were made. Two types of excitatory input, eliciting fast and slow excitatory post-synaptic potentials, respectively, were demonstrable in response to focal stimulation of nerves in the ganglia from which recordings were made. There were no differences in the proportions of neurons in which fast or slow excitatory synaptic potentials were evoked in unoperated preparations (controls), in islands 1.5-4 mm wide between myotomies, or within 1 mm on the oral or anal sides of myotomies. Possible differences in the amplitudes, durations at half amplitude, and threshold numbers of stimuli for initiation of slow excitatory synaptic potentials were analyzed. The only significant differences were found when data from control and oral areas were pooled and compared with combined data from island and anal areas (this assessed differences that could arise from severing nerve fibres running from oral to anal).(ABSTRACT TRUNCATED AT 250 WORDS)