Etiological heterogeneity in Hodgkin's disease: HLA linked and unlinked determinants of susceptibility independent of histological concordance

Forty-one multiplex families, from published sources and new data from the National Cancer Institute, segregating for Hodgkin's disease and HLA, have been studied. A reanalysis of these data strongly suggests a recessive mode of inheritance for susceptibility to Hodgkin's disease. The HLA haplotype sharing data between affected relatives demonstrate that approximately 60% of cases in multiplex families are due to an HLA-linked susceptibility gene, the remaining 40% being due to other familial factors. The data clearly support the hypothesis of etiological heterogeneity for Hodgkin's disease, with both HLA-linked and HLA-unlinked factors being responsible. Finally, there is an increased concordance of histological types between affected relatives, but this concordance seems independent of HLA sharing.     

Orofacial dyskinesia, frontal lobe dysfunction, and coping in older people with psychosis.

OBJECTIVE: To investigate whether orofacial tardive dyskinesia (OTD) is associated with frontal lobe dysfunction and whether either are related to the coping abilities independent of psychiatric symptoms in older people with psychotic disorders. METHODS: A total of 52 patients, aged over 65 years or over, who satisfied International Classification of Diseases, Tenth Revision criteria for psychotic disorders (F20-F29) were recruited into the study. OTD was measured using the Abnormal Involuntary Movements Scale and Waddington et al.'s (1993) criteria. Neuropsychological measures were specifically selected to assess different aspects of frontal function and coping was measured using a semistructured interview. Psychiatric symptoms were assessed using the Positive and Negative Syndrome Scale (PANSS). RESULTS: Patients with OTD showed more severe global cognitive impairment compared to patients without OTD. Group differences on measures of frontal lobe dysfunction were not maintained following adjustment for global cognitive impairment. Patients with OTD did not differ from patients without OTD on coping measures. Scores on the general psychopathology subscale of the PANSS, which includes symptoms associated with depression and anxiety, consistently predicted patients' negative perceptions of stressors and appraisals of coping, but cognitive impairment did not predict coping independent of symptoms. CONCLUSION: The association between coping and general psychopathology in older patients with psychosis warrants further investigation as both variables may be amenable to psychological interventions.     

Ehlers-Danlos syndrome – vascular type (ecchymotic variant): cutaneous and dermatopathologic features

Ehlers-Danlos syndrome – vascular type, the only lethal form, is rarely reported in dermatology literature. It is characterized by translucent, atrophic skin, easy bruising, arterial, intestinal and/or uterine fragility manifesting as varicose veins, aneurysms and vascular/visceral/uterine rupture. As its dermatopathologic features are not well elucidated, diagnosis is often made after a catastrophic complication or at autopsy. This 36 year-old non-consanguineous male had brown-black plaques with atrophy and frequent ulceration over legs and dorsal feet and tortuous varicose veins around ankles for the past 15 years. Perivenous skin was translucent and hypopigmented. He had multiple and ecchymotic keloids and small atrophic, pityriasis versicolor-like lesions over trunk. He did not have hypermobile/hyperextensible skin and joints and showed no systemic or investigative abnormality. Histopathologic features of atrophic lesion included blood extravasation in atrophic epidermis/dermis, focal clustering and dilatation of blood vessels, malformed vessel walls, abundant hemosiderin in the dermis and homogenously stained/whorled patterned collagen especially around blood vessels. Pathology of keloidal lesion showed new collagen and vascular fragility. These histopathologic features appear of diagnostic value especially in patients who have compatible clinical findings but cannot afford confirmation by biochemical testing for abnormal synthesis of type III procollagen or identification of mutations in the COL3A1 gene.     

Betropharyngeal abscesses: Revisited

Retropharyngeal abscesses were fairly common in preantibiotic era but the advent of antibiotics has reduced the overall incidence of these abscesses. They still continue to occur specially in developing world and carry significant morbidity and even mortality if not managed properly. The prevalence of this abscess in the young children pose a bigger challenge, as the examination of oral cavity is difficult. Emphasis is placed on the age, sex, type, and duration of symptoms, bacteriology, methodology of diagnosis, therapy and complications. With proper antibiotic cover and surgical management, majority of patients today survive without major residual squeal. Hereby we present a series of 15 cases of retropharyngeal abscess.     

Evidence for increased recombination near the human insulin gene: implication for disease association studies.

Haplotypes for four new restriction site polymorphisms (detected by Rsa I, Taq I, HincII, and Sac I) and a previously identified DNA length polymorphism (5' FP), all at the insulin locus, have been studied in U.S. Blacks, African Blacks, Caucasians, and Pima Indians. Black populations are polymorphic for all five markers, whereas the other groups are polymorphic for Rsa I, Taq I, and 5' FP only. The data suggest that approximately equal to 1 in 550 base pairs is variant in this region. The polymorphisms, even though located within 20 kilobases, display low levels of nonrandom association. Population genetic analysis suggests that recombination within this 20-kilobase segment occurs 24 times more frequently than expected if crossing-over occurred uniformly throughout the human genome. These findings suggest that population associations between DNA polymorphisms and disease susceptibility genes near the insulin gene or structural mutations in the insulin gene will be weak. Thus, population studies would probably require large sample sizes to detect associations. However, the low levels of nonrandom association increase the information content of the locus for linkage studies, which is the best alternative for discovering disease susceptibility genes.     

Humoral immunity in experimental immune carditis

An experimental model of carditis has been produced in the rhesus monkey by giving 12 weekly injections of a streptococcal membrane antigen. There was histological evidence of focal myocarditis, subendocardial infiltration with lymphomononuclear cells and in one animal myocardial granuloma formation. No valvular lesions were seen. Humoral immune responses monitored throughout the experiment showed that anti-heart antibodies appeared in circulation after the 2nd injection, attained maximal titres by the 6th injection, and thereafter the titres declined. The anti-membrane antibodies appeared slightly later and these titres kept rising till sacrifice. By the 6th injection there was evidence of complement consumption and appearance of circulating immune complexes. It is concluded that these immunological responses might have a role to play in the pathogenesis of carditis.     

Low delay rate adaptive pacemaker using FPGA embedded piezoelectric sensor

Abstract

This paper presents the hardware implementation of low delay, power-efficient, rate-adaptive dual-chamber pacemaker (RDPM) using a piezoelectric sensor. Rate adaptive pacemaker has the ability to sense the patient’s activity by means of some special sensors and it controls the pacing rate according to the patient’s activity. Ideally, there should be no delay between sensing and the subsequent pacing operation performed by the pacemaker. However, delay in the responses of various components in the circuitry produces an accumulative delay effect in any practical circuit. Physical activity and the physiological needs of the patient can be easily adapted by the rate-responsive pacemakers using a wide range of sensor information. The piezo-electric sensor recognises the pressure on human muscles because of physical activity and converts it to an electrical signal, which is received by the pulse generator of the pacemaker. When the patient is in the rest mode, the heart rate is the only parameter that is to be detected by the pacemaker. Thus, the heart rate and the physical activity both are the inevitable parameters for the design of RDPM. Performance analysis of the proposed RDPM shows a significant reduction in the delay between sensing and pacing. Device utility analysis shows that the proposed design not only requires lesser memory but also reduces the number of components on the chip. Therefore, it becomes very clear that the proposed pacemaker design will consume much lesser power.