Neurological Anomalies in XYY Males

1972 ◽  
Vol 120 (557) ◽  
pp. 447-448 ◽  
Author(s):  
M. J. G. Harrison ◽  
T. G. Tennent

A high incidence of men with the 47 XYY karyotype has been repeatedly demonstrated amongst inmates of prisons (Bartlett et al., 1968; Griffiths et al., 1967) and institutions of psychologically abnormal offenders (Jacobs et al., 1968; Casey et al., 1968). Although genetic surveys of the newborn suggest that there must be many more males with this karyotype who remain undetected in the general population, the high incidence of this karyotype amongst these highly selected groups remains unexplained. The initial hypothesis that the extra Y chromosome was associated with aggressiveness no longer appears tenable, at least in its extreme form, as studies indicate that men with this karyotype are less aggressive than other men in the same institution (Price and Whatmore, 1967). It has also been suggested (Hunter, 1966) that because of their increased stature they are more likely to be seen as aggressive and dangerous, and that emotional disturbances arise from problems consequent to being tall. Forssman and Hambert (1969) have suggested that some cerebral abnormality might account for the behaviour of these individuals, and point to reports of EEG abnormalities as being in keeping with this. In support of this idea, Daly (1969) has reported finding neurological abnormalities in 10 out of 12 XYY males that he examined. He further suggested that neurological deficits might prove valuable in identifying individuals of this karyotype. Criticism has been made of such conclusions (Kessler and Moos, 1970) on the grounds that all such studies have been carried out on patients in special institutions, and that the prevalence of similar abnormalities in the rest of these populations is not known. The following report describes neurological findings in 23 XYY men and in a group of patients with a 46 XY karyotype from the same institution, matched in respect of age (6 months), intelligence (15 points on WAIS), and length of stay (within two years). All patients were from Rampton and Moss Side Hospitals (two of the English Special Hospitals) and had been karyotyped in a previous survey (see Casey, 1971). Apart from those on anticonvulsant medication, all patients had been off drugs for at least the preceding four weeks. Controls and index cases were seen in a randomized order by one of us (M.J.G.H.) who did not know at the time of examination to which group the patient belonged. The neurological anomalies detected in the two groups are shown in the table below.

Author(s):  
Abdulrahman Al-Mirza ◽  
Omar Al-Taei ◽  
Tariq Al-Saadi

AbstractCraniopharyngiomas (CP) are brain tumors that often occur in children and adolescent that results in many neurological and endocrinological disorders. The aim of this systematic review is to provide updated version of studies used to formalize standard tests used for cognitive impairment in pediatric patients with craniopharyngioma. A systematic review was conducted in PubMed, EBSCO, ProQuest, Science Direct, Wiley Online, and Springer to identify studies assessing cognitive impairment in pediatric patients with craniopharyngioma. Academic and learning dysfunctions were reported in seven studies among 41 of 178 patients (23%). Visual–spatial deficits were reported in six studies. Speech and verbal dysfunctions were reported in three studies. Memory deficits were reported in eight studies among 61 of 197 patients (31%). Motor dysfunctions were reported in five studies. Sleep related issues were reported in four studies among 33 of 70 patients (47.1%). Patients with treated pediatric CP demonstrate a high incidence of neurological deficits including cognitive dysfunctions. Academic and learning dysfunctions, visual–spatial deficits, speech and verbal dysfunctions, memory deficits, and sleep-related issues were the most commonly reported cognitive deficits in the present study.


1994 ◽  
Vol 1 (1) ◽  
pp. 22-38 ◽  
Author(s):  
J M Elwood

A review of the published evidence presented here argues that screening for melanoma is recommended and practised at present, but with wide diversity of opinions about its value; there is evidence that screening has considerable potential for benefit, but the evidence of actual benefit is limited; and there are substantial costs and potential hazards from screening. On this basis the evaluation of screening procedures for melanoma is important, and options for this are discussed. The ideal study design to assess the efficacy of melanoma screening in reducing mortality is a large scale randomised trial. This may need a well coordinated proposal involving several centres in one or more countries, and the cost would be substantial. Without such a trial, however, it is most likely that increasing resources will be put into poorly designed screening programmes of unknown value. The simplest and strongest designs use individual randomisation, but group randomisation designs may have practical advantages, though they require a greater sample size. Designs based on general population screening, and on screening only high risk groups, are both considered. They answer different questions. In countries with high incidence the value of general population screening is probably the more critical. Not enough is known to specify the type and frequency of screening precisely; both screening by doctors and self screening require evaluation, and annual screening should probably be tested. The age range at risk will depend on the local incidence, but is likely to be quite wide — for example, 45–69, and both sexes need inclusion. Thus a suggested design for a moderate to high incidence area would be a trial, randomised by individual or group, assessing at least two annual rounds of both screening by doctor and self screening (ideally by a factorial design), for adults aged 45–69, with mortality over several years' follow up as the critical outcome. In an area with good data systems such a study could compare screening offered to some 260.000 subjects with 10 times that number of controls passively followed up, with 90% power to detect a one third reduction in mortality. A general assessment of costs over five years gave estimates of $8.3 million for the screening programme and $2.4 million for the evaluation. The much weaker designs, area based cohort studies using individual data or a simpler ecological comparison, and case-control studies, are also considered. If well designed with attention to their methodological limitations they may be valuable but are unlikely to be as definitive as a randomised trial.


1997 ◽  
Vol 36 (1) ◽  
pp. 81-113 ◽  
Author(s):  
Gérard Lemaine ◽  
Jeanne Ben Brika

Our intention in this article is to show that ethnic prejudice, as evaluated by questions on social distance, is at least partly grounded in the physical appearance of the target groups mentioned, as well as in the greater or lesser difference in phenotype of a child that the individual might have with a member of the target group. Appreciation of these target groups would then depend on the nature of these differences. For France, whenever possible, comparisons were made between the findings of a previous survey (in 1982) and those of a 1988 European survey inserted in the Euro-Barometer. There are also some comparisons between France and West Germany, for 1988. The initial hypothesis is supported by the findings, but responses measuring social distance are modulated by the perceived race and culture of the target groups. An analysis of extremist individuals in 1988 (for France, 178 people) nuanced the overall picture and enabled us to show that responses of extreme non-racists and racists are not strictly symmetrical with respect to expulsion or rejection by the host country.


Neurosurgery ◽  
2011 ◽  
Vol 69 (4) ◽  
pp. E1005-E1009 ◽  
Author(s):  
Tsuyoshi Ichikawa ◽  
Shigeru Miyachi ◽  
Takashi Izumi ◽  
Noriaki Matsubara ◽  
Takehiro Naito ◽  
...  

Abstract BACKGROUND AND IMPORTANCE: We present a rare case of fenestration of the left supraclinoid intracranial internal carotid artery with 2 associated aneurysms arising proximally and distally from the fenestration that were successfully treated with endovascular coil embolization. This is the first report of these types of aneurysms treated with coiling alone. CLINICAL PRESENTATION: A 47-year-old woman underwent a diagnostic workup; magnetic resonance angiography incidentally revealed 2 tandem aneurysms at the supraclinoid and paraclinoid portion of the left internal carotid artery. Angiography revealed fenestration of the left supraclinoid internal carotid artery with 2 aneurysms both proximal and distal to the fenestration. The patient underwent endovascular coil embolization of the aneurysms simultaneously. The smaller trunk was intentionally occluded to achieve complete packing of the proximal aneurysm. Both aneurysms were totally occluded, and no neurological deficits developed in the patient. CONCLUSION: Based on previous reports, fenestration has the potential to form an aneurysm, and there seemed to be a relatively high incidence of rupture if accompanied by aneurysm. Coiling is one good option to treat aneurysms and should be considered when multiple aneurysms exist because all aneurysms can be treated simultaneously. Proximal occlusion of the smaller trunk is acceptable because of a retrograde flow from the distal end, even if one exists.


2020 ◽  
Author(s):  
Theerut Densathaporn ◽  
Rassamee Sangthong ◽  
Monvaris Sakolnapa ◽  
Smonrapat Surasombatpattana ◽  
Marisa Kemapunmanus ◽  
...  

Abstract Background: In 2016 and 2017, Zika virus (ZIKV) infection outbreaks occurred in two communities in southern Thailand. This re-immerging infection can widely spread by mosquito bites and cause serious complications in a central nervous system among children born to infected mothers. Thus, they should be protected. This study aims to (1) To determine the prevalence of neutralizing ZIKV antibodies in the post-outbreak areas among the general population and pregnancy women residing at various distances from the houses of the nearest index patients; (2) To examine the cross-neutralizing capacity of antibodies against ZIKV on other flaviviruses commonly found in the study areas; (3) To identify factors associated with the presence of neutralizing ZIKV antibodies.Methods: The two post-outbreak communities were visited at 18 months after the outbreaks. We enrolled (1) 18 confirmed ZIKV infected (index) cases, (2) sample of 554 neighbors in the outbreak areas who lived at various distances from the index patients’ houses, (3) 190 residents of non-outbreak areas, and (4) all pregnant women regardless of gestational age residing in the study areas (n = 805). All serum specimens underwent the plaque reduction neutralization test (PRNT). Ten randomly selected ZIKV seropositive and ten randomly selected seronegative specimens were tested for dengue virus serotypes 1-4 (DENV1-4) and Japanese encephalitis virus (JEV) antibodies using PRNT90. Serum titer above 1:10 was considered positive. Multiple logistic regression was used to assess factors associated with seropositivity.Results: Out of all 18 index cases, 9 remained seropositive. The seroprevalence (95% CI) in the two outbreak areas were 43.7% (35.9-51.6%) and 29.7% (23.3-36.0%) in general population, and 24.3% (20.1-28.8%) and 12.8% (9.7-16.5%) in pregnant women. Multivariate analysis showed that seropositivity was independent of the distance gradient from the index’s houses. However, being elderly was associated with seropositivity. DENV1-4 and JEV neutralizing antibodies were present in most ZIKV-positive and negative subsamples.Conclusion: Protective herd immunity for ZIKV infection is inadequate, especially among pregnant women in the two post-outbreak areas in southern Thailand.


2020 ◽  
Vol 5 (2) ◽  
pp. 83
Author(s):  
Roma Haresh Paryani ◽  
Vivek Gupta ◽  
Pramila Singh ◽  
Madhur Verma ◽  
Sabira Sheikh ◽  
...  

While risk of tuberculosis (TB) is high among household contacts (HHCs) of pre-extensively drug resistant (pre-XDR) TB and XDR-TB, data on yield of systematic longitudinal screening are lacking. We aim to describe the yield of systematic longitudinal TB contact tracing among HHCs of patients with pre-XDR-TB and XDR-TB. At the Médecins Sans Frontières (MSF) clinic, Mumbai, India a cohort comprising 518 HHCs of 109 pre-XDR and XDR index cases was enrolled between January 2016 and June 2018. Regular HHC follow-ups were done till one year post treatment of index cases. Of 518 HHCs, 23 had TB (21 on TB treatment and two newly diagnosed) at the time of first visit. Of the rest, 19% HHCs had no follow-ups. Fourteen (3.5%) TB cases were identified among 400 HHCs; incidence rate: 2072/100,000 person-years (95% CI: 1227–3499). The overall yield of household contact tracing was 3% (16/518). Of 14 who were diagnosed with TB during follow-up, six had drug susceptible TB (DSTB); six had pre-XDR-TB and one had XDR-TB. Five of fourteen cases had resistance patterns concordant with their index case. In view of the high incidence of TB among HHCs of pre-XDR and XDR-TB cases, follow-up of HHCs for at least the duration of index cases’ treatment should be considered.


2020 ◽  
Vol 9 (9) ◽  
pp. 3003
Author(s):  
Aldo Germani ◽  
Simona Petrucci ◽  
Laura De Marchis ◽  
Fabio Libi ◽  
Camilla Savio ◽  
...  

The 5–10% of breast/ovarian cancers (BC and OC) are inherited, and germline pathogenic (P) variants in DNA damage repair (DDR) genes BRCA1 and BRCA2 explain only 10–20% of these cases. Currently, new DDR genes have been related to BC/OC and to pancreatic (PC) cancers, but the prevalence of P variants remains to be explored. The purpose of this study was to investigate the spectrum and the prevalence of pathogenic variants in DDR pathway genes other than BRCA1/2 and to correlate the genotype with the clinical phenotype. A cohort of 113 non-BRCA patients was analyzed by next-generation sequencing using a multigene panel of the 25 DDR pathways genes related to BC, OC, and PC. We found 43 unique variants in 18 of 25 analyzed genes, 14 classified as P/likely pathogenic (LP) and 28 as variants of uncertain significance (VUS). Deleterious variants were identified in 14% of index cases, whereas a VUS was identified in 20% of the probands. We observed a high incidence of deleterious variants in the CHEK2 gene, and a new pathogenic variant was detected in the RECQL gene. These results supported the clinical utility of multigene panel to increase the detection of P/LP carriers and to identify new actionable pathogenic gene variants useful for preventive and therapeutic approaches.


1968 ◽  
Vol 114 (514) ◽  
pp. 1167-1174 ◽  
Author(s):  
J. M. Anders ◽  
G. Jagiello ◽  
P. E. Polani ◽  
F. Giannelli ◽  
J. L. Hamerton ◽  
...  

The observation of a higher incidence of sex-chromosome abnormalities amongst patients in mental deficiency and subnormality institutions than in the general population (Maclean et al., 1962; Court Brown et al., 1964) suggested that a sex chromatin survey of a theoretically related chronic psychotic population might be of interest. Mott (1919) observed a high frequency of testicular atrophy in dementia praecox, particularly in patients dying in early adolescence, and Forster (quoted by Mott, 1919) reported on the ovarian findings in similarly affected women. Hemphill et al. (1944) found a high incidence of testicular atrophy in a series of ninety male schizophrenic patients.


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