Initial Upper Palaeolithic humans in Europe had recent Neanderthal ancestry.

Modern humans appeared in Europe by at least 45,000 years ago1-5, but the extent of their interactions with Neanderthals, who disappeared by about 40,000 years ago6, and their relationship to the broader expansion of modern humans outside Africa are poorly understood. Here we present genome-wide data from three individuals dated to between 45,930 and 42,580 years ago from Bacho Kiro Cave, Bulgaria1,2. They are the earliest Late Pleistocene modern humans known to have been recovered in Europe so far, and were found in association with an Initial Upper Palaeolithic artefact assemblage. Unlike two previously studied individuals of similar ages from Romania7 and Siberia8 who did not contribute detectably to later populations, these individuals are more closely related to present-day and ancient populations in East Asia and the Americas than to later west Eurasian populations. This indicates that they belonged to a modern human migration into Europe that was not previously known from the genetic record, and provides evidence that there was at least some continuity between the earliest modern humans in Europe and later people in Eurasia. Moreover, we find that all three individuals had Neanderthal ancestors a few generations back in their family history, confirming that the first European modern humans mixed with Neanderthals and suggesting that such mixing could have been common.

Traditional practices and perceptions of epilepsy among people in Roma communities in Bulgaria.

PURPOSE: We attempted to identify cultural aspects of epilepsy among the Roma community in Bulgaria by elucidating cultural beliefs, traditional treatments, and potential markers of stigma. METHODS: We established representative discussion groups among five distinct Roma subgroups (Lom, Kalderas, Thracian Tinsmiths (Tinkers), Kyustendil Xoroxane and Kopanari) from different Bulgarian regions. Data about local beliefs and treatment strategies were gathered. RESULTS: Most people were familiar with convulsions but non-convulsive focal seizures were seen not as epileptic but mainly as a "mental problem". Beliefs about putative etiologies for epilepsy were not uniform as some considered environmental and external factors such as high environmental temperatures, electric shocks, loud music, and fever as causes of seizures while others listed bad experiences, stress, trauma, and fear as possible causes. Epilepsy was seen by some as a divine punishment or resulting from black magic. Most considered epilepsy shameful and an obstacle to children attending school. Despite local differences, there was a uniform belief that epilepsy is incurable by Western medicine and people usually resort to traditional healers. A variety of rituals performed by local healers to treat epilepsy were described. DISCUSSION: Misconceptions about epilepsy may contribute to stigmatization in this population; this may in turn contribute to a high treatment gap in this group. As a result, the majority of Roma children with epilepsy are likely to leave school early, are greatly limited in their choice of spouse (particularly girls), and marriages often occur between people with epilepsy or those with a family history of epilepsy.

Eating banitsa in London: Re-inventing Bulgarian foodways in the context of Inter-EU migration.

Based on interviews and surveys of Bulgarians living in the UK, the article explores the changing nature of Bulgarian foodways in the UK. Using banitsa, a 'traditional' Bulgarian breakfast dish, as the starting point for the research, the article examines the relationships Bulgarians in the UK have with their host and home communities as well as with their national identity and sense of belonging and the effect these have on their foodways and food consumption. The main claim the article makes is that the context of migration and of being a migrant engenders a deliberate attempt to foster and maintain an identity that is most often expressed in national terms, and most immediately performed in the everyday through food. Migrant belonging changes in such a way that the everyday becomes a means of identity construction and expression. Attitudes towards food - the making and serving of Bulgarian banitsa - illustrate this change.

Ethnic, Familial, and Religious Identity of Roma Adolescents in Bulgaria, Czech Republic, Kosovo, and Romania in Relation to Their Level of Well-Being.

This study examines ethnic, national, familial, and religious identity and well-being of 632 Roma minority and 589 majority adolescents (age: M = 15.98 years, SD = 1.34) in Bulgaria, the Czech Republic, Kosovo, and Romania. Results indicated that Roma showed lower endorsement of national identity but stronger religious identity than their majority counterparts. Path models showed positive associations of familial and religious identities with well-being, whereas Roma identity was negatively associated with well-being, particularly for Roma in Bulgaria and Kosovo (countries with a less active policy toward improving conditions of Roma). In the latter countries, Roma ethnic identity is less relevant and weakly associated with psychological well-being of youth.

The dynamics of interminority extended contact: The role of affective and cognitive mediators.

OBJECTIVE: Research on intergroup contact and prejudice reduction has dedicated little attention to relations between minority groups. We examined whether interminority extended contact, that is, the knowledge that a member of the minority ingroup has a friend from the minority outgroup, is associated with positive outgroup attitudes. Affective (outgroup empathy and outgroup trust) and cognitive (ingroup norm) mediators were considered. METHOD: Two correlational studies were conducted. Study 1 (N = 640, 50% female, mean age = 44 years) was conducted in Bulgaria among the Bulgarian Turkish and Roma ethnic minorities, while Study 2 (N = 458, 67% female, mean age = 44 years) was conducted in Finland among Estonian and Russian immigrants. RESULTS: Path analyses showed that, over and above the effects of direct contact between the minority groups, interminority extended contact was associated with positive outgroup attitudes in both intergroup settings. These effects occurred through empathy (Study 1), trust, and ingroup norms (Study 2). CONCLUSION: The 2 studies highlight interminority extended contact as a means to promote harmonious interminority relationships and suggest the implementation of interventions based on extended contact to reduce interminority prejudice and to foster solidarity among minorities. (PsycINFO Database Record

Mitochondrial DNA Suggests a Western Eurasian Origin for Ancient (Proto-) Bulgarians.

Ancient (proto-) Bulgarians have long been thought of as a Turkic population. However, evidence found in the past three decades shows that this is not the case. Until now, this evidence has not included ancient mitochondrial DNA (mtDNA) analysis. To fill this void, we collected human remains from the 8th to the 10th century AD located in three necropolises in Bulgaria: Nojarevo (Silistra region) and Monastery of Mostich (Shumen region), both in northeastern Bulgaria, and Tuhovishte (Satovcha region) in southwestern Bulgaria. The phylogenetic analysis of 13 ancient DNA samples (extracted from teeth) identified 12 independent haplotypes, which we further classified into mtDNA haplogroups found in present-day European and western Eurasian populations. Our results suggest a western Eurasian matrilineal origin for proto-Bulgarians, as well as a genetic similarity between proto- and modern Bulgarians. Our future work will provide additional data that will further clarify proto-Bulgarian origins, thereby adding new clues to the current understanding of European genetic evolution.

Spectrum and frequencies of BRCA1/2 mutations in Bulgarian high risk breast cancer patients.

BACKGROUND: About 3885 women are diagnosed with breast cancer and 1285 die from the disease each year in Bulgaria. However no genetic testing to identify the mutations in high-risk families has been provided so far. METHODS: We evaluated 200 Bulgarian women with primary invasive breast cancer and with personal/ family history of breast cancer for the presence of unequivocally damaging germline mutations in BRCA1/2 using Sanger sequencing. RESULTS: Of the 200 patients, 39 (19.5 %) carried a disease predisposing mutation, including 28 (14 %) with a BRCA1 mutation and 11 (5.5 %) with a BRCA2 mutation. At BRCA1, 6 different mutations were identified, including 2 frameshifts, 1 nonsense and 1 missense that had been previously reported (c.5030_5033delCTAA, c.5263_5264insC, c.4603G > T, c.181 T > G), and 2 frameshifts, which were novel to this study (c.464delA, c.5397_5403delCCCTTGG). At BRCA2, 7 different frameshift mutations were identified, including 5 previously reported (5851_5854delAGTT, c.5946delT, c.5718_5719delCT, c.7910_7914delCCTTT,c.9098_9099insA) and 2 novel (c.8532_8533delAA, c.9682delA). A BRCA1 mutation was found in 18.4 % of women diagnosed with breast cancer at/or under the age of 40 compared to 11.2 % of women diagnosed at a later age; a BRCA2 mutation was found in 4 % of women diagnosed at/or under the age of 40 compared to 6.5 % of women diagnosed at a later age. A mutation was present in 26.8 % patients with a positive family history and in 14.4 % of women with a negative family history. The most prevalent mutation observed in 22 patients (11 %) was BRCA1 c.5263_5264insC, a known Slavic mutation with founder effect in Eastern European and AJ communities. Other recurrent mutations were BRCA2 c.9098-9099insA (2 %), BRCA1 c.181T > G (1 %) and BRCA2 c.5851_5854delAGTT (1 %). Notably, BRCA1 c.5263_5264insC represented 56 % of all mutations identified in this series. Of the 22 patients with BRCA1 c.5263_5264insC, 9 were diagnosed with early onset breast cancer, 11 with TNBCs, 4 with bilateral breast cancer, and 6 with both breast and ovarian cancer. CONCLUSIONS: This is the first comprehensive study of the BRCA1/2 mutation spectrum in Bulgaria and will assist the establishment of efficient protocols for genetic testing and individualized risk assessment for Bulgarian breast/ovarian cancer patients and healthy individuals at a high-risk.

Structural vulnerability and access to medical care among migrant street-based male sex workers in Germany.

This article discusses health concerns of migrant street-based male sex workers (SMSW) in Germany, a population that remains underexplored by health and social scientists. It is based on five months of ethnographic research in 2011/2012, including 46 semi-structured interviews with physicians, social workers, health department staff, and SMSW from Romania and Bulgaria. This is supplemented with annual reports by organizations providing assistance to this population in eight cities. The article contributes, first, an analysis of the increase in migrant SMSW as a response to economic opportunities (freedom of movement across European Union borders) and constraints (transitional measures restricting access to the labor market). It seeks to move beyond the myopic association between sex work and HIV to contextualize health risks as resultant of macro-level processes associated with migration. Second, the article contributes a summary of primary health concerns for this population. Especially troubling is their lack of access to regular medical services, reflecting a socio-legal position that often resembles that of unauthorized migrants rather than European Union citizens.

Recent trends of cancer mortality in Romanian adults: mortality is still increasing, although young adults do better than the middle-aged and elderly population.

We analysed the mortality trends (1986-2009) for all cancers combined and selected cancers in adult Romanians by three age groups (15-49, 50-69 and older than 70 years of age) in comparison with 11 other European countries. We extracted mortality data from the WHO database and grouped the countries into four regions: central and eastern Europe (Romania, Bulgaria, the Czech Republic, Hungary), Baltic countries (Estonia, Latvia and Lithuania), western and northern Europe (Austria, the Netherlands and Finland), and southern Europe (Croatia and Slovenia). Mortality rates were age-standardized against the standard European population. Significant changes in mortality trends were identified by Joinpoint regression and annual percentage changes (APCs) were calculated for periods with uniform trends. Cancer mortality in Romania was among the lowest in Europe in 1986, but was higher than most countries by 2009. Despite the declining mortality (APC) in younger Romanians for all cancers combined (men-1.5% from 1997, women-1.2% 1997-2004 and -3.8% 2004-2009), male lung cancer (-2.8% from 1997), female breast (-3.5% from 1999) and cervical (-5.4% from 2004) cancers, mortality has increased in middle-aged and elderly patients for most cancers analysed. The exception was declining stomach cancer mortality in most Romanians, except elderly men. For most cancers analysed, mortality declined in the Baltic countries in young and middle-aged patients, and in western and northern countries for all ages. Lung cancer mortality in women increased in all countries except Latvia. We urge immediate steps to reverse the alarming increase in cancer mortality among middle-aged and elderly Romanians.

Oculopharyngeal muscular dystrophy among Bulgarian Jews: a new cluster?

BACKGROUND: Oculopharyngeal muscular dystrophy (OPMD) produced by the (GCG)13 expansion mutation in the PABPN1 gene is frequent among Uzbek Jews in Israel. OBJECTIVES: To describe the phenotypic and genotypic features in five Bulgarian Jewish patients, from different families, with autosomal dominant OPMD. METHODS: We performed clinical follow-up, electrodiagnostic tests and mutation detection. Blood samples were obtained after informed consent and DNA was extracted; measurement of GCG repeats in both PABPN1 alleles and sequencing of OPMD mutations were performed according to standard techniques. RESULTS: We identified five patients (four females), aged 58 to 71 years, with bilateral ptosis, dysphagia, dysphonia (n = 3) and myopathic motor units by electromyography. In all patients we noticed proximal weakness of the upper limbs with winging scapulae in three of them. All cases shared the (GCG)13-(GCG)10 PABPN1 genotype. CONCLUSIONS: OPMD among Bulgarian Jews is produced by a (GCG)13 expansion, identical to the mutation in Uzbek Jews and French Canadians. In addition to the classical neurological and neuro-ophthalmological features, early shoulder girdle weakness is common in Bulgarian Jewish patients; this is an unusual feature during the early stages of OPMD produced by the same mutation in other populations. We suggest that besides the disease-producing GCG expansion, additional ethnicity-related genetic factors may influence the OPMD phenotype. OPMD is a rare disease, and the identification of five affected families in the rather small Bulgarian Jewish community in Israel probably represents a new cluster; future haplotype studies may elucidate whether a founder effect occurred.

Neurological symptoms, genotype-phenotype correlations and ethnic-specific differences in Bulgarian patients with Wilson disease.

OBJECTIVES: The aim of our study was to characterize the neurological symptoms in Bulgarian patients with Wilson disease (WD), to investigate genotype-phenotype correlations, and to test whether there are differences in phenotype between patients of different ethnic origin. PATIENTS AND METHODS: A total of 126 Bulgarian patients with WD were included in the study. Detailed history, physical and neurological examination, laboratory investigation of copper metabolism, slit-lamp examination, abdominal ultrasound, magnetic resonance imaging/computed tomography of the brain, molecular genetic testing, and statistical analysis were performed. RESULTS: Eighty-two patients demonstrated neurological signs. Tremor and dysarthria were most frequently observed. Rigidity, bradykinesia, and pyramidal signs were found in >25% of the patients. Dystonia, chorea, athetosis, ballismus, and epilepsy were rarely observed. We identified a total of 27 mutations of ATP7B. The most frequent mutation is p.H1069Q found on at least 1 allele in 78% of the patients. We did not find a significant correlation between p.H1069Q homozygosity and age of onset, ceruloplasmin level, and urinary copper excretion. The patients homozygous for p.H1069Q presented more frequently with hepatic signs. Mutations predicted to cause production of truncated protein are associated with earlier age at onset and lower ceruloplasmin level. In contrast to Bulgarian patients, Roma patients had an earlier disease onset and more frequent hepatic manifestation. CONCLUSIONS: WD presents with a variety of neurological signs. The mutation p.H1069Q is not uniformly associated with late onset and neurological presentation. Frameshift and nonsense mutations lead to severe phenotype. There are ethnic-specific differences in disease manifestation.

Transnational aging careers: on transformation of kinship and citizenship in the context of migration among Bulgarian Muslims in Spain.

This article focuses on "transnational aging careers," a group of elderly migrants who are in constant movement between social contexts, families, and states. Drawing on a case of Bulgarian Muslim migrants in Spain, I look into the ruptures in the structure of care arrangements, kin expectations, and family relations, which migration triggers. I suggest that these transformations, albeit subtle, lead to reformulation of the fabric of the family. In this way, transnational care-motivated mobility affects future security based on kin reciprocity. At the same time, migration disrupts aging careers' social citizenship both in Bulgaria and in Spain by limiting or even excluding them from state welfare support. I argue that these two lines of transformation, kinship and citizenship, result in new forms of gender and intergenerational inequalities. Furthermore, their intersection leads to a move from welfare to kinfare, which not only affects present arrangements between migrants, but also entails future insecurities.

No evidence of association between 118A>G OPRM1 polymorphism and heroin dependence in a large Bulgarian case-control sample.

The µ-opioid receptor is the primary site of action of most opioids. The 118A>G (rs1799971) polymorphism in exon 1 of the µ-opioid receptor gene (OPRM1) leads to an Asn40Asp amino acid change that affects a putative N-glycosylation site. It has been widely investigated for association with alcohol and drug dependence and pain sensitivity, with mixed results. The aim of the current study was to examine whether this polymorphism was associated with heroin dependence in a large Bulgarian cohort of 1842 active users and 1451 population controls. SNP genotyping was done using Real-Time PCR TaqMan technology. Association analyses were conducted, separately for Roma and non-Roma participants. Our results suggest that there is no direct effect of 118A>G genotype on the risk for heroin dependence among active heroin users.

Paleoneurosurgical aspects of Proto-Bulgarian artificial skull deformations.

Paleoneurosurgery represents a comparatively new developing direction of neurosurgery dealing with archaeological skull and spine finds and studying their neurosurgical aspects. Artificial skull deformation, as a bone artifact, naturally has been one of the main paleoneurosurgical research topics. Traditionally, the relevant neurosurgical literature has analyzed in detail the intentional skull deformations in South America's tribes. However, little is known about the artificial skull deformations of the Proto-Bulgarians, and what information exists is mostly due to anthropological studies. The Proto-Bulgarians originated from Central Asia, and distributed their skull deformation ritual on the Balkan Peninsula by their migration and domination. Proto-Bulgarian artificial skull deformation was an erect or oblique form of the anular type, and was achieved by 1 or 2 pressure bandages that were tightened around a newborn's head for a sufficiently long period. The intentional skull deformation in Proto-Bulgarians was not associated with neurological deficits and/or mental retardation. No indirect signs of chronic elevated intracranial pressure were found on the 3D CT reconstruction of the artificially deformed skulls.

[Standards for determining the physical development of newborn children of Roma origin in city of Plovdiv].

In a complex set of factors affecting the physical development plays an important role and ethnicity. Purpose of the study was the development of standards for assessing the physical development of newborn children from the Roma ethnos. The information is registered in the Obstetric Clinic of Medical University Plovdiv and includes 338 newborns Roma children. Norms are made using one of the most accurate methods for individual assessment--method of percentile. The size of the sample gives reason to believe that the norms for evaluation of height, body mass and size of the head and breasts of newborn children of Roma origin are stable and statistically reliable and can be used by gynecologists, micro-pediatricians to assess physical development of children in the next 80-10 years.

[Standards for determining the physical development of newborn children of Turkish ethnicity].

The ethnicity, as part of other important factors, which are determinants of children's physical development, has a specific role. The main purpose of this study was to determine the standards, which have to be used in order to assess the physical development of newborn children of Turkish ethnic origin. The primer source of information is the Obstetric Clinic of Medical University, where 265 newborn children of Turkish ethnicity were registered. The Percentile method was used to derive the standards. Referring to the extent of the excerpt the standards of height, body mass and tours of the head evaluation are authentic and statistically reliable. This is the reason why they could be in assistance of obstetrician gynecologists and microbiologists, when assessing the physical development of children in next 8-10 years.

Population drinking and fatal injuries in Eastern Europe: a time-series analysis of six countries.

AIMS: To estimate to what extent injury mortality rates in 6 Eastern European countries are affected by changes in population drinking during the post-war period. DATA AND METHODS: The analysis included injury mortality rates and per capita alcohol consumption in Russia, Belarus, Poland, Hungary, Bulgaria and the former Czechoslovakia. Total population and gender-specific models were estimated using auto regressive integrated moving average time-series modelling. RESULTS: The estimates for the total population were generally positive and significant. For Russia and Belarus, a 1-litre increase in per capita consumption was associated with an increase in injury mortality of 7.5 and 5.5 per 100,000 inhabitants, respectively. The estimates for the remaining countries ranged between 1.4 and 2.0. The gender-specific estimates displayed national variations similar to the total population estimates although the estimates for males were higher than for females in all countries. CONCLUSIONS: The results suggest that changes in per capita consumption have a significant impact on injury mortality in these countries, but the strength of the association tends to be stronger in countries where intoxication-oriented drinking is more common.

Daughters' stories: family memory and generational amnesia.

After World War II, most Bulgarian Jews emigrated legally to Israel. Those who stayed had to take part in the building of socialism and integrate in a monolithic "socialist nation." Thereby they had to "forget" their ethnic identity ("aided by the state in various ways) and to become "Homo politicus" rather than "Homo ethnicus." Since 1990, a revival of Jewish identity has begun in Bulgaria. Here I explore how the women of three generations from the same family reinvent their Jewish identity in their life stories. Drawing on this particular case, I suggest an approach to the question of the interplay of individual and collective memory. I focus on family and generation as different types of collectivities influencing individual memories and self-actualizations.