A tuberkulózis előfordulása egy XVIII. századi váci családban

Two individuals of the Nigrovits family from the Vác Mummy Collection of the Hungarian Natural History Museum were the subjects of multidisciplinary, anthropological, paleopathological, radiological, paleomicrobiological and paleoproteomic studies. The father, József Nigrovits (No 29), died at the age of 55 on the 11th of November 1793; his son, Antal Nigrovits (No 54), died on the 16th of July 1803, at the age of 22. They lived in the 18th century in a small town of northern Hungary. The macroscopic examination of body No 54 showed a severely deformed neck and back region; body No 29 had no characteristic marks of any illnesses. The CT scan data of the bodies and their 3D reconstructions showed no skeletal evidence of tuberculosis, despite the positive results of their paleomicrobiological studies. The deformity of body No 54 turned to be a developmental abnormality of unknown origin, but no Pott’s gibbus was present

Clinical value of whole-body magnetic resonance imaging in health screening of general adult population.

BACKGROUND: Whole-body magnetic resonance imaging (WB-MRI) and angiography (WB-MRA) has become increasingly popular in population-based research. We evaluated retrospectively the frequency of potentially relevant incidental findings throughout the body. MATERIALS AND METHODS: 22 highly health-conscious managers (18 men, mean age 47+/-9 years) underwent WB-MRI and WB-MRA between March 2012 and September 2013 on a Discovery MR750w wide bore 3 Tesla device (GE Healthcare) using T1 weighted, short tau inversion recovery (STIR) and diffusion weighted imaging (DWI) acquisitions according to a standardized protocol. RESULTS: A suspicious (pararectal) malignancy was detected in one patient which was confirmed by an endorectal sonography. Incidental findings were described in 20 subjects, including hydrocele (11 patients), benign bony lesion (7 patients) and non-specific lymph nodes (5 patients). Further investigations were recommended in 68% (ultrasound: 36%, computed tomography: 28%, mammography: 9%, additional MRI: 9%). WB-MRA were negative in 16 subjects. Vascular normal variations were reported in 23%, and a 40% left proximal common carotid artery stenosis were described in one subject. CONCLUSIONS: WB-MRI and MRA lead to the detection of clinically relevant diseases and unexpected findings in a cohort of healthy adults that require further imaging or surveillance in 68%. WB-MR imaging may play a paramount role in health screening, especially in the future generation of (epi)genetic based screening of malignant and atherosclerotic disorders. Our study is the first which involved a highly selected patient group using a high field 3-T wide bore magnet system with T1, STIR, MRA and whole-body DWI acquisitions as well

Boncolás nyomai egy XVIII. századi gyermek mumifikálódott testén = Signs of Autopsy on the Body of a 10-Year-Old Girl Lived in the 18th Century

In 1994–1995, in the Church of the Whites, the corpses of 265 individuals dressed in funeral clothes, mummified to varying degrees, were unearthed from coffins excavated by the ethnographic museologists of the Ignác Tragor Museum, Vác (Hungary). The individuals were preserved by spontaneous mummification due to the crypt’s unique microclimate and burial pattern. Signs of an autopsy were found on the body of a 10-year old girl, Maria Theresa of Swartz, who died on the 26th January 1784. Two incisions were seen on her body: the longitudinal incision extends from the manubrium sterni to the symphysis, the second one is perpendicular to it, and connects the two hip paddles. The wound edges were later sutured, and the suture was partially retained. Since there was no sign of any other opening in the body, the autopsy was apparently aimed at finding out the cause of death and was limited to the area of the suspected disease. Rapid miliary tuberculosis and extrapulmonary bone tuberculosis must have contributed to the child's death; this was demonstrated by radiological examinations and confirmed by paleomicrobiological examination (residues of Mycobacterium tuberculosis detected in pulmonary and extrapulmonary samples as well). Another hypothesis is that appendicitis might have caused the death of a child with advanced tuberculosis. In the case of appendicitis, the intestinal function may stop. Suspected abdominal complaints may also have been caused by extrapulmonary gastrointestinal tuberculosis

Genetic and environmental effects on the abdominal aortic diameter development

Configuration of the abdominal aorta is related to healthy aging and a variety of disorders. We aimed to assess heritable and environmental effects on the abdominal aortic diameter. 114 adult (69 monozygotic, 45 same-sex dizygotic) twin pairs (mean age 43.6 ± 16.3 years) underwent abdominal ultrasound with Esaote MyLab 70X ultrasound machine to visualize the abdominal aorta below the level of the origin of the renal arteries and 1-3 cm above the bifurcation. Age- and sex-adjusted heritability of the abdominal aortic diameter below the level of the origin of the renal arteries was 40% [95% confidence interval (CI), 14 to 67%] and 55% above the aortic bifurcation (95% CI, 45 to 70%). None of the aortic diameters showed common environmental effects, but unshared environmental effects were responsible for 60% and 45% of the traits, respectively. Our analysis documents the moderate heritability and its segment-specific difference of the abdominal aortic diameter. The moderate part of variance was explained by unshared environmental components, emphasizing the importance of lifestyle factors in primary prevention. Further studies in this field may guide future gene-mapping efforts and investigate specific lifestyle factors to prevent abdominal aortic dilatation and its complications.https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4728590

Transmission of second-hand smoke sensitivity and smoking attitude in a family

introduction and objective. The role of genetic factors in nicotine dependence is well understood, but no information is available on the inheritability of second-hand smoke (SHS) exposure sensitivity and their co-variance. materials and methods. 186 adult same-gender pairs of twin (146 monozygotic, 40 dizygotic; 44+/-17 years+/-SD) completed a questionnaire. results. The model showed a significant role of unshared environmental factors influencing the co-variance between smoking habit and SHS sensitivity (re=-0.191, 95% CI, -0.316 to -0.056, or the total phenotypic correlation of rph=-0.406, p<0.001) without evidence for genetic covariation. Age, gender and country-adjusted analysis indicated 51.5% heritability for smoking habit (95% confidence interval/CI/, 6.2 to 89.8%), 49.7% for SHS sensitivity (95%CI, 19.1-72.0%), 35.5% for general opinions on SHS exposure in restaurants/cafes (95%CI, 10.7-58.6%), and 16.9% in pubs/bars (95%CI, 0.0-49.0%). conclusions. The co-variance between SHS sensitivity and smoking habits is driven mainly by the unshared environment. SHS sensitivity is moderately inheritable. The considerable influence of environmental factors on general opinions on SHS exposure in designated indoor public venues emphasizes the importance of smoking bans and health behaviour interventions at the individual level in developing an anti-smoking attitude

Modest genetic influence on bronchodilator response: a study in healthy twins.

AIM: To determine the reasons for large standard deviation of bronchodilator response (BDR) and establish whether there is a potential heritable component in healthy subjects. METHODS: 67 monozygotic and 42 dizygotic adult twin pairs were assessed for bronchodilator response (% change in FEV1 after inhaling 400 microg salbutamol). Univariate quantitative genetic modeling was performed. RESULTS: Multiple regression modeling showed a significant association between BDR and sex and baseline FEV1 (P<0.05), while no association was found with smoking habits, body mass index, or age. Within pair correlation in monozygotic twins was modest (0.332), but higher than in dizygotic twins (0.258). Age-, sex-, and baseline FEV1-adjusted genetic effect accounted for 14.9% (95% confidence interval, CI 0%-53.1%) of the variance of BDR, shared environmental effect for 18.4% (95% CI 0%-46.8%), and unshared environmental effect for 66.8% (95% CI 46.8%-88.7%). CONCLUSION: Our twin study showed that individual differences in BDR can be mostly explained by unshared environmental effects. In addition, it is the first study to show low, insignificant hereditary influences, independently from sex, age, and baseline FEV1

Genetic and environmental influence on thyroid gland volume and thickness of thyroid isthmus: a twin study

ABSTRACT Objectives: Decreased thyroid volume has been related to increased prevalence of thyroid cancer. Subjects and methods: One hundred and fourteen Hungarian adult twin pairs (69 monozygotic, 45 dizygotic) with or without known thyroid disorders underwent thyroid ultrasound. Thickness of the thyroid isthmus was measured at the thickest portion of the gland in the midline using electronic calipers at the time of scanning. Volume of the thyroid lobe was computed according to the following formula: thyroid height*width*depth*correction factor (0.63). Results: Age-, sex-, body mass indexand smoking-adjusted heritability of the thickness of thyroid isthmus was 50% (95% confidence interval [CI], 35 to 66%). Neither left nor right thyroid volume showed additive genetic effects, but shared environments were 68% (95% CI, 48 to 80%) and 79% (95% CI, 72 to 87%), respectively. Magnitudes of monozygotic and dizygotic co-twin correlations were not substantially impacted by the correction of covariates of body mass index and smoking. Unshared environmental effects showed a moderate influence on dependent parameters (24-50%). Conclusions: Our analysis support that familial factors are important for thyroid measures in a general twin population. A larger sample size is needed to show whether this is because of common environmental (e.g. intrauterine effects, regional nutrition habits, iodine supply) or genetic effects. Arch Endocrinol Metab. 2015;59(6):487-9

Genetic and environmental influence on thyroid gland volume and thickness of thyroid isthmus: a twin study

ABSTRACT Objectives: Decreased thyroid volume has been related to increased prevalence of thyroid cancer. Subjects and methods: One hundred and fourteen Hungarian adult twin pairs (69 monozygotic, 45 dizygotic) with or without known thyroid disorders underwent thyroid ultrasound. Thickness of the thyroid isthmus was measured at the thickest portion of the gland in the midline using electronic calipers at the time of scanning. Volume of the thyroid lobe was computed according to the following formula: thyroid height*width*depth*correction factor (0.63). Results: Age-, sex-, body mass indexand smoking-adjusted heritability of the thickness of thyroid isthmus was 50% (95% confidence interval [CI], 35 to 66%). Neither left nor right thyroid volume showed additive genetic effects, but shared environments were 68% (95% CI, 48 to 80%) and 79% (95% CI, 72 to 87%), respectively. Magnitudes of monozygotic and dizygotic co-twin correlations were not substantially impacted by the correction of covariates of body mass index and smoking. Unshared environmental effects showed a moderate influence on dependent parameters (24-50%). Conclusions: Our analysis support that familial factors are important for thyroid measures in a general twin population. A larger sample size is needed to show whether this is because of common environmental (e.g. intrauterine effects, regional nutrition habits, iodine supply) or genetic effects