Incidence Of Positive Family History Research Articles

Genetic prion diseases presenting as frontotemporal dementia: clinical features and diagnostic challenge

BackgroundTo elucidate the clinical and ancillary features of genetic prion diseases (gPrDs) presenting with frontotemporal dementia (FTD) to aid early identification.MethodsGlobal data of gPrDs presenting with FTD caused by prion protein gene mutations were collected from literature review and our records. Fifty-one cases of typical FTD and 136 cases of prion diseases admitted to our institution were included as controls. Clinical and ancillary data of the different groups were compared.ResultsForty-nine cases of gPrDs presenting with FTD were identified. Compared to FTD or prion diseases, gPrDs presenting with FTD were characterized by earlier onset age (median 45 vs. 61/60 years, P < 0.001, P < 0.001) and higher incidence of positive family history (81.6% vs. 27.5/13.2%, P < 0.001, P < 0.001). Furthermore, GPrDs presenting with FTD exhibited shorter duration (median 5 vs. 8 years) and a higher rate of parkinsonism (63.7% vs. 9.8%, P < 0.001), pyramidal signs (39.1% vs. 7.8%, P = 0.001), mutism (35.9% vs. 0%, P < 0.001), seizures (25.8% vs. 0%, P < 0.001), myoclonus (22.5% vs. 0%, P < 0.001), and hyperintensity on MRI (25.0% vs. 0, P < 0.001) compared to FTD. Compared to prion diseases, gPrDs presenting with FTD had a longer duration of symptoms (median 5 vs. 1.1 years, P < 0.001), higher rates of frontotemporal atrophy (89.7% vs. 3.3%, P < 0.001), lower rates of periodic short-wave complexes on EEG (0% vs. 30.3%, P = 0.001), and hyperintensity on MRI (25.0% vs. 83.0%, P < 0.001). The frequency of codon 129 Val allele in gPrDs presenting with FTD was significantly higher than that reported in the literature for gPrDs in the Caucasian and East Asian populations (33.3% vs. 19.2%/8.0%, P = 0.005, P < 0.001).ConclusionsGPrDs presenting with FTD are characterized by early-onset, high incidence of positive family history, high frequency of the Val allele at codon 129, overlapping symptoms with prion disease and FTD, and ancillary features closer to FTD. PRNP mutations may be a rare cause in the FTD spectrum, and PRNP genotyping should be considered in patients with these features.

Cocaine consumption and acute coronary syndromes: a cross sectional study from the Swiss registry AMIS Plus

INTRODUCTION Cocaine abuse is a relevant public health issue which causes medical, psychological and social drawbacks. Only limited data are currently available on outcomes of acute coronary syndromes (ACS) in cocaine-addicted patients. The aim of this study was to evaluate the cardiovascular impact of cocaine in a population of patients enrolled in the Swiss nationwide AMIS Plus registry, with a focus on in-hospital outcomes. METHODS We retrospectively analysed data of patients enrolled in the Swiss AMIS Plus registry from 1 January 2007 to 31 December 2018. Baseline and in-hospital data of ACS patients with self-reported regular cocaine abuse were compared with the remaining AMIS Plus population and a sex and age-matched group of non-cocaine user ACS patients (ratio 1:5, 540 patients). Primary endpoints were in-hospital death and major adverse cardiac and cardiovascular events (MACCEs). RESULTS A total of 20,036 patients were included in the AMIS Plus registry for ACS in the study period, of whom 110 (0.5%) reported regular cocaine abuse. As compared with the remaining AMIS population, cocaine users were significantly younger (46.4 ± 10.8 vs 66.4 ± 13.2 years, p &lt;0.001), presented more frequently with out-of-hospital cardiac arrest (11.8% vs 4.7%, p &lt;0.001) and ST-elevation myocardial infarction (68.2% vs 54.7%, p = 0.007). Of the traditional cardiovascular risk factors, there was a higher incidence of positive family history and active smoking, but a lower incidence of arterial hypertension, diabetes and obesity. In-hospital mortality (3.6% vs 4.4%, p = 1) and MACCEs (5.4% vs 5.5%, p = 0.83) were comparable. When compared with an age-matched non-cocaine user ACS population, cocaine users were more frequently smokers (87.6% vs 63.6%, p &lt;0.001) but less frequently obese (10.4% vs 25.6%, p = 0.001). Clinical presentation was comparable between the two groups. However, cocaine abuse was associated with a higher incidence of in-hospital death (3.7% vs 0.7%, p &lt;0.05) and MACCEs (5.6% vs 1.3%, p &lt;0.05). CONCLUSION Cocaine abuse increases the risk of mortality by a factor of 5 and the risk of major adverse cardiac and cardiovascular events by a factor of 4 as compared with a sex and age-matched population hospitalised after an acute coronary syndrome.

Profile of patients with Brugada syndrome presenting with their first documented arrhythmic event: Data from the Survey on Arrhythmic Events in BRUgada Syndrome (SABRUS)

Detailed information on the profile of patients with Brugada syndrome (BrS) presenting their first arrhythmic event (AE) after prophylactic implantation of an implantable cardioverter-defibrillator (ICD) is limited. The objectives of this study were (1) to compare clinical, electrocardiographic, electrophysiologic, and genetic profiles of patients who exhibited their first documented AE as aborted cardiac arrest (group A) with profiles of those in whom the AE was documented after prophylactic ICD implantation (group B) and (2) to characterize group B patients' profile using the class II indications for ICD implantation established by HRS/EHRA/APHRS expert consensus statement in2013. A survey of 23 centers from 10 Western and 4 Asian countries enabled data collection of 678 patients with BrS who exhibited their AE (group A, n = 426; group B, n = 252). The first AE occurred in group B patients 6.7 years later than in group A (mean age 46.1 ± 13.3 years vs 39.4 ± 15.1 years; P < .001). Group B patients had a higher incidence of family history of sudden cardiac death and SCN5A mutations. Of the 252 group B patients, 189 (75%) complied with the HRS/EHRA/APHRS indications whereas the remaining 63 (25%) did not. Patients with BrS with the first AE documented after prophylactic ICD implantation exhibited their AE at a later age with a higher incidence of positive family history of sudden cardiac death and SCN5A mutations as compared with those presenting with aborted cardiac arrest. Only 75% of patients who exhibited an AE after receiving a prophylactic ICD complied with the 2013 class II indications, suggesting that efforts are still required for improving risk stratification.

Effect of Age at Onset on Disease Characteristics in Vitiligo

Vitiligo is a multifactorial disease in which genetic, immunologic, and environmental factors play an important part. Late-onset vitiligo is a poorly defined entity. Case records of patients who attended the pigmentary clinic at our institute from January 2001 to December 2010 were reviewed. Patients with a diagnosis of vitiligo were analyzed with respect to their demographic characteristics with special reference to their age at onset. Patients with disease onset after 30 years had a significantly higher association with precipitating factors such as trauma, stress, and drugs in comparison with early-onset vitiligo (p < .004). However, the difference did not reach statistical significance when these factors were analyzed individually. There was a significantly higher association with other nonautoimmune diseases (p = .05), a higher incidence of positive family history (p < .0001), and a higher association with leukotrichia (p < .002) in late-onset disease. Early-onset nonsegmental vitiligo was associated with a higher incidence of photosensitivity and pruritus compared to early-onset segmental vitiligo. Late-onset vitiligo has certain distinguishing features compared to early-onset vitiligo.

Transformed or evolutive migraine.

SYNOPSIS630 (39%) of 1600 patients seen in a Headache Clinic over a three year period had chronic daily headaches (CDH). In 78% of these CDH patients, the daily headaches evolved out of a prior history of episodic migraine; these patients we designate as having “transformed” or “evolutive” migraine. The other 12% had migraine headaches which were daily from the start.Patients with transformed migraine, in contrast to those with daily headaches from the start, have a significantly higher incidence of positive family history of migraine, menstrual aggravation of migraine, identifiable trigger factors, associated G.I. and neurological symptoms, and early morning awakening with headache.The CDH group in general over‐used symptomatic medication and exhibited abnormalities on behavioral scale testing. Withdrawal of daily symptomatic medication, institution of a low tyramine low caffeine diet, initiation of prophylactic anti‐migraine therapy, and biofeedback and behavioral therapy, gave worthwhile improvement in 76% of chronic daily headache patients.Factors which promote “evolution” of migraine from intermittent to chronic daily occurrence are not well‐defined but may include medication abuse, medication withdrawal, and psychiatric disturbances.

Male breast cancer: a natural history study.

Eighty-seven cases of male breast cancer seen over a 30-year period were reviewed. The overall observed and corrected five-year survival rates of 42% and 53% correspond well with the results in other series. Factors predicting disease-free interval and survival included size of primary lesion, ipsilateral axillary status, and presence of ulceration, which appear to be similar to those observed for female breast cancer. Eighteen patients (21%) had a second primary tumor (seven with cutaneous malignancies) and were of an older age group with a higher incidence of positive family history of breast cancer as well as other tumors. The overall prognosis of breast cancer in males does not appear to be less favorable than that in females.

Psychiatric syndromes, anxiety symptoms and responses to stress in medical students.

1. A random sample of 40 sophomore medical students out of 80 was given structured psychiatric interviews. 2. Six (15%) of the group were psychiatrically ill ; of these 3 were manic-depressives, one an anxiety neurotic, one a chronic alcoholic, and one ill but undiagnosed. 3. The psychiatrically ill subjects had an incidence of positive family history of psychiatric illness that was markedly greater than that of the well subjects; this difference was statistically significant to the 0.0001 level. In addition, the ill relatives of ill subjects were not only genetically much closer than those of the well subjects but appeared to suffer different illnesses. 4. Anxiety symptoms did not increase in pre-exam periods in the psychiatrically ill; but those of well subjects, previously quite different, approached those of the ill in pre-exam periods. 5. Anxiety ratings in ordinary circumstances do not correlate with those of pre-exam periods for the group. 6. In ordinary circumstances our group resembled a control population rather than anxiety neurotics in terms of incidence of anxiety symptoms. In pre-exam periods the group resembled the "scared soldiers" reported by Cohen, White, et al. Differences, however, were present. 7. The incidence of psychiatric symptoms such as dreams, nightmares, hallucinations, suicidal thoughts, and phobias was quite high in our subjects but the quality of such symptoms was innocuous in all but the 6 ill subjects.