89 research outputs found
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
ΠΠ°ΡΠΈΠΎΠ½Π°Π»Π΅Π½ ΠΊΠΎΠ½ΡΠ΅Π½ΡΡΡ Π·Π° Π΄ΠΈΠ°Π³Π½ΠΎΡΡΠΈΠΊΠ°, Π»Π΅ΡΠ΅Π½ΠΈΠ΅, ΠΏΡΠΎΡΠ»Π΅Π΄ΡΠ²Π°Π½Π΅ ΠΈ ΠΏΡΠΎΡΠΈΠ»Π°ΠΊΡΠΈΠΊΠ° Π½Π° Ρ Π΅ΡΠ΅Π΄ΠΈΡΠ°ΡΠ½Π°ΡΠ° ΡΡΠ°Π½ΡΡΠΈΡΠ΅ΡΠΈΠ½ΠΎΠ²Π°ΡΠ° Π°ΠΌΠΈΠ»ΠΎΠΈΠ΄ΠΎΠ·Π°
ΠΠΌΠΈΠ»ΠΎΠΈΠ΄ΠΎΠ·ΠΈΡΠ΅ ΡΠ° ΡΠΈΡΠΎΠΊ ΡΠΏΠ΅ΠΊΡΡΡ ΠΎΡ Π·Π°Π±ΠΎΠ»ΡΠ²Π°Π½ΠΈΡ, Π΄ΡΠ»ΠΆΠ°ΡΠΈ ΡΠ΅ Π½Π° ΠΏΡΠΎΠΌΠ΅Π½ΠΈ Π² Π±Π΅Π»ΡΡΡΠ½Π°ΡΠ° ΡΡΡΡΠΊΡΡΡΠ°, Π² ΡΠ΅Π·ΡΠ»ΡΠ°Ρ Π½Π° ΠΊΠΎΠ΅ΡΠΎ Π½ΠΎΡΠΌΠ°Π»Π½ΠΎ ΡΠ°Π·ΡΠ²ΠΎΡΠΈΠΌ ΡΠ΅ΡΡΠ°ΠΌΠ΅ΡΠ΅Π½ Π±Π΅Π»ΡΡΠΊ ΡΠ»Π΅Π΄ Π΄Π΅ΡΡΠ°Π±ΠΈΠ»ΠΈΠ·Π°ΡΠΈΡ Π½Π° ΡΠ΅ΡΠ²ΡΡΡΠΈΡΠ½Π°ΡΠ° ΡΡΡΡΠΊΡΡΡΠ° ΠΈ ΠΏΠΎΡΠ»Π΅Π΄Π²Π°Ρ ΡΠ°Π·ΠΏΠ°Π΄ Π΄ΠΎ ΡΠ²ΠΎΠ±ΠΎΠ΄Π½ΠΈ ΠΌΠΎΠ½ΠΎΠΌΠ΅ΡΠΈ ΠΎΠ±ΡΠ°Π·ΡΠ²Π° Π½Π΅ΡΠ°Π·ΡΠ²ΠΎΡΠΈΠΌΠΈ ΠΈΠ·Π²ΡΠ½ΠΊΠ»Π΅ΡΡΡΠ½ΠΈ ΡΠΈΠ±ΡΠΈΠ»Π½ΠΈ Π΄Π΅ΠΏΠΎΠ·ΠΈΡΠΈ, ΠΊΠΎΠ΅ΡΠΎ Π²ΠΎΠ΄ΠΈ Π΄ΠΎ ΠΎΡΠ³Π°Π½Π½Π° Π΄ΠΈΡΡΡΠ½ΠΊΡΠΈΡ. ΠΡΠΈΡΠΊΠΈ Π²ΠΈΠ΄ΠΎΠ²Π΅ Π°ΠΌΠΈΠ»ΠΎΠΈΠ΄ ΡΡΠ΄ΡΡΠΆΠ°Ρ Π΅Π΄ΠΈΠ½ ΠΎΡΠ½ΠΎΠ²Π΅Π½ ΡΠΈΠ±ΡΠΈΠ»Π΅Π½ ΠΏΡΠΎΡΠ΅ΠΈΠ½, ΠΊΠΎΠΉΡΠΎ ΠΎΠΏΡΠ΅Π΄Π΅Π»Ρ Π²ΠΈΠ΄Π° Π½Π° Π°ΠΌΠΈΠ»ΠΎΠΈΠ΄Π°, ΠΊΠ°ΠΊΡΠΎ ΠΈ ΠΏΠΎ-ΠΌΠ°Π»ΠΊΠΈ ΠΊΠΎΠΌΠΏΠΎΠ½Π΅Π½ΡΠΈ. ΠΠ°Π΄ 20 ΡΠ°Π·Π»ΠΈΡΠ½ΠΈ ΡΠΈΠ±ΡΠΈΠ»Π½ΠΈ ΠΏΡΠΎΡΠ΅ΠΈΠ½Π°, Π°ΡΠΎΡΠΈΠΈΡΠ°Π½ΠΈ Ρ Π°ΠΌΠΈΠ»ΠΎΠΈΠ΄ΠΎΠ·ΠΈ ΡΠ° ΠΎΠΏΠΈΡΠ°Π½ΠΈ ΠΏΡΠΈ Ρ
ΠΎΡΠ°, Π²ΡΡΠΊΠ° ΠΎΡ ΠΊΠΎΠΈΡΠΎ ΠΈΠΌΠ° ΡΠ°Π·Π»ΠΈΡΠ½Π° ΠΊΠ»ΠΈΠ½ΠΈΡΠ½Π° ΠΊΠ°ΡΡΠΈΠ½Π°. ΠΠ΄ΠΈΠ½ ΡΠ°ΠΊΡΠ² Π±Π΅Π»ΡΡΠΊ, ΠΊΠΎΠΉΡΠΎ ΡΠΎΡΠΌΠΈΡΠ° ΡΠΎΠ²Π΅ΡΠΊΠΈ Π°ΠΌΠΈΠ»ΠΎΠΈΠ΄Π½ΠΈ ΡΠΈΠ±ΡΠΈΠ»ΠΈ, Π΅ ΡΡΠ°Π½ΡΡΠΈΡΠ΅ΡΠΈΠ½Π° (Ando Y. ΠΈ ΡΡΡΡ. 2005). TTΠ Π΄Π΅ΠΉΡΡΠ²Π° ΠΊΠ°ΡΠΎ ΡΡΠ°Π½ΡΠΏΠΎΡΡΠ΅Π½ Π±Π΅Π»ΡΡΠΊ Π·Π° ΡΠΈΡΠΎΠΊΡΠΈΠ½ Π² ΠΏΠ»Π°Π·ΠΌΠ°. TTΠ ΡΡΡΠΎ ΡΡΠ°Π½ΡΠΏΠΎΡΡΠΈΡΠ° ΡΠ΅ΡΠΈΠ½ΠΎΠ» (Π²ΠΈΡΠ°ΠΌΠΈΠ½ Π) ΡΡΠ΅Π· ΡΠ²ΡΡΠ·Π²Π°Π½Π΅ΡΠΎ ΠΌΡ Ρ ΡΠ΅ΡΠΈΠ½ΠΎΠ»-ΡΠ²ΡΡΠ·Π²Π°ΡΠΈΡ ΠΏΡΠΎΡΠ΅ΠΈΠ½. Π’ΠΎΠΉ ΡΠΈΡΠΊΡΠ»ΠΈΡΠ° ΠΊΠ°ΡΠΎ ΡΠ΅ΡΡΠ°ΠΌΠ΅Ρ ΠΎΡ ΡΠ΅ΡΠΈΡΠΈ ΠΈΠ΄Π΅Π½ΡΠΈΡΠ½ΠΈ ΡΡΠ±Π΅Π΄ΠΈΠ½ΠΈΡΠΈ. TTΠ ΠΌΠΎΠΆΠ΅ Π΄Π° Π±ΡΠ΄Π΅ ΠΎΡΠΊΡΠΈΡ Π² ΠΏΠ»Π°Π·ΠΌΠ°ΡΠ° ΠΈ Π»ΠΈΠΊΠ²ΠΎΡΠ°.
Π‘ΠΈΠ½ΡΠ΅Π·ΠΈΡΠ° ΡΠ΅ Π³Π»Π°Π²Π½ΠΎ Π² ΡΠ΅ΡΠ½ΠΈΡ Π΄ΡΠΎΠ± ΠΈ Ρ
ΠΎΡΠΈΠΎΠΈΠ΄Π½ΠΈΡ ΠΏΠ»Π΅ΠΊΡΡΡ Π½Π° ΠΌΠΎΠ·ΡΠΊΠ° ΠΈ Π² ΠΏΠΎ-ΠΌΠ°Π»ΠΊΠ° ΡΡΠ΅ΠΏΠ΅Π½ - Π² ΡΠ΅ΡΠΈΠ½Π°ΡΠ°. ΠΠ΅Π½ΡΡ TTΠ Π΅ Π»ΠΎΠΊΠ°Π»ΠΈΠ·ΠΈΡΠ°Π½ Π²ΡΡΡ
Ρ Π΄ΡΠ»Π³ΠΎΡΠΎ ΡΠ°ΠΌΠΎ Π½Π° Ρ
ΡΠΎΠΌΠΎΠ·ΠΎΠΌΠ° 18 ΠΈ ΡΡΠ΄ΡΡΠΆΠ° 4 Π΅ΠΊΠ·ΠΎΠ½Π° ΠΈ 3 ΠΈΠ½ΡΡΠΎΠ½Π°.
Π‘ΠΈΡΡΠ΅ΠΌΠ½ΠΈΡΠ΅ Π°ΠΌΠΈΠ»ΠΎΠΈΠ΄ΠΎΠ·ΠΈ ΡΠ΅ ΠΎΠ·Π½Π°ΡΠ°Π²Π°Ρ Ρ Π³Π»Π°Π²Π½Π° Π±ΡΠΊΠ²Π° Π (Π·Π° Π°ΠΌΠΈΠ»ΠΎΠΈΠ΄), ΡΠ»Π΅Π΄Π²Π°Π½Π° ΠΎΡ ΡΡΠΊΡΠ°ΡΠ΅Π½ΠΈΠ΅ΡΠΎ Π·Π° Ρ
ΠΈΠΌΠΈΡΠ΅ΡΠΊΠ°ΡΠ° ΡΡΡΠ½ΠΎΡΡ Π½Π° ΡΠΈΠ±ΡΠΈΠ»Π½ΠΈΡ ΠΏΡΠΎΡΠ΅ΠΈΠ½. Π’Π°ΠΊΠ° Π½Π°ΠΏΡΠΈΠΌΠ΅Ρ, TTΠ Π°ΠΌΠΈΠ»ΠΎΠΈΠ΄ΠΎΠ·Π° ΡΠ΅ ΡΡΠΊΡΠ°ΡΠ°Π²Π° ATTΠ , Π° Π°ΠΌΠΈΠ»ΠΎΠΈΠ΄ΠΎΠ·Π° ΠΏΡΠΈ ΠΎΡΠ»Π°Π³Π°Π½Π΅ Π½Π° Π»Π΅ΠΊΠΈΡΠ΅ Π²Π΅ΡΠΈΠ³ΠΈ Π½Π° ΠΈΠΌΡΠ½ΠΎΠ³Π»ΠΎΠ±ΡΠ»ΠΈΠ½ΠΈΡΠ΅ β AΠ (Saraiva M. ΠΈ ΡΡΡΡ., 1984; Connors L. ΠΈ ΡΡΡΡ., 2003; Ando Y. ΠΈ ΡΡΡΡ. 2005).
ΠΠ»Π°ΡΠΈΡΠΈΡΠΈΡΠ°Π½Π΅ΡΠΎ Π½Π° ΠΎΡΠΊΡΠΈΡΠΈΡΠ΅ Π³Π΅Π½Π΅ΡΠΈΡΠ½ΠΈ Π²Π°ΡΠΈΠ°Π½ΡΠΈ Π΅ ΠΎΡ ΠΈΠ·ΠΊΠ»ΡΡΠΈΡΠ΅Π»Π½ΠΎ Π·Π½Π°ΡΠ΅Π½ΠΈΠ΅ Π·Π° ΠΌΠΎΠ»Π΅ΠΊΡΠ»ΡΡΠ½ΠΎ-Π³Π΅Π½Π΅ΡΠΈΡΠ½ΠΈΡΠ΅ ΡΠ΅ΡΡΠΎΠ²Π΅ ΠΈ ΡΡΡ
Π½Π°ΡΠ° ΠΈΠ½ΡΠ΅ΡΠΏΡΠ΅ΡΠ°ΡΠΈΡ. ΠΡΠ΅Π½ΠΊΠ°ΡΠ° Π½Π° ΠΏΠ°ΡΠΎΠ³Π΅Π½Π½ΠΎΡΡΡΠ° Π½Π° Π΄Π°Π΄Π΅Π½ Π³Π΅Π½Π΅ΡΠΈΡΠ΅Π½ Π²Π°ΡΠΈΠ°Π½Ρ ΡΡΡΠ±Π²Π° Π΄Π° ΡΠ΅ ΠΈΠ·Π²ΡΡΡΠ²Π° Π½Π° Π±Π°Π·Π°ΡΠ° Π½Π° Π½Π°ΡΡΠ½ΠΈ Π΄ΠΎΠΊΠ°Π·Π°ΡΠ΅Π»ΡΡΠ²Π° ΠΈ ΡΠΏΠΎΡΠ΅Π΄ ΡΠ½ΠΈΡΠΈΡΠΈΡΠ°Π½Π° Π½ΠΎΠΌΠ΅Π½ΠΊΠ»Π°ΡΡΡΠ° ΠΈ ΠΏΡΠ°Π²ΠΈΠ»Π°. ΠΡΠ² Π²ΡΡΠ·ΠΊΠ° Ρ ΡΠΎΠ²Π°, ΡΠΈΡΠΎΠΊΠΎ ΠΈΠ·ΠΏΠΎΠ»Π·Π²Π°Π½ΠΈΡΠ΅ Π΄ΠΎ ΠΌΠΎΠΌΠ΅Π½ΡΠ° ΡΠ΅ΡΠΌΠΈΠ½ΠΈ ΠΌΡΡΠ°ΡΠΈΡ ΠΈ ΠΏΠΎΠ»ΠΈΠΌΠΎΡΡΠΈΠ·ΡΠΌ ΡΠ° Π·Π°ΠΌΠ΅Π½Π΅Π½ΠΈ Ρ ΠΊΠ»Π°ΡΠΈΡΠΈΠΊΠ°ΡΠΈΡ Π½Π° Π³Π΅Π½Π΅ΡΠΈΡΠ½ΠΈΡΠ΅ Π²Π°ΡΠΈΠ°Π½ΡΠΈ, ΡΠΏΠΎΡΠ΅Π΄ ΠΊΠΎΡΡΠΎ ΡΠ΅ ΠΎΠ±ΠΎΡΠΎΠ±ΡΠ²Π°Ρ 5 ΠΊΠ°ΡΠ΅Π³ΠΎΡΠΈΠΈ: ΠΏΠ°ΡΠΎΠ³Π΅Π½Π΅Π½, Π²Π΅ΡΠΎΡΡΠ½ΠΎ ΠΏΠ°ΡΠΎΠ³Π΅Π½Π΅Π½, Π²Π°ΡΠΈΠ°Π½Ρ Ρ Π½Π΅ΡΡΠ½ΠΎ ΠΊΠ»ΠΈΠ½ΠΈΡΠ½ΠΎ Π·Π½Π°ΡΠ΅Π½ΠΈΠ΅, Π²Π΅ΡΠΎΡΡΠ½ΠΎ Π½Π΅ΠΏΠ°ΡΠΎΠ³Π΅Π½Π΅Π½ ΠΈ Π½Π΅ΠΏΠ°ΡΠΎΠ³Π΅Π½Π΅Π½ (Richards S. ΠΈ ΡΡΡΡ., 2015; Nykamp K. Π ΡΡΡΡ., 2017)
RAEDER PARATRIGEMINAL SYNDROME IN A PATIENT WITH A MASS LESION IN THE MAXILLARY SINUS
Raeder paratrigeminal syndrome is a rare syndrome, characterized by severe unilateral facial pain and headache in the distribution of the ophthalmic division of the trigeminal nerve in combination with ipsilateral oculosympathetic palsy or Horner syndrome. We describe a case of a 65-year-old male patient with a large tumor in the right maxillary sinus who presented with the rare Raeder syndrome
Challenges of diagnostic exome sequencing in an inbred founder population
Exome sequencing was used as a diagnostic tool in a Roma/Gypsy family with three subjects (one deceased) affected by lissencephaly with cerebellar hypoplasia (LCH), a clinically and genetically heterogeneous diagnostic category. Data analysis identified high levels of unreported inbreeding, with multiple rare/novel "deleterious" variants occurring in the homozygous state in the affected individuals. Stepβwise filtering was facilitated by the inclusion of parental samples in the analysis and the availability of ethnically matched control exome data. We identified a novel mutation, p.Asp487Tyr, in the VLDLR gene involved in the Reelin developmental pathway and associated with a rare form of LCH, the Dysequilibrium Syndrome. p.Asp487Tyr is the third reported missense mutation in this gene and the first example of a change affecting directly the functionally crucial Ξ²βpropeller domain. An unexpected additional finding was a second unique mutation (p.Asn494His) with high scores of predicted pathogenicity in KCNV2, a gene implicated in a rare eye disorder, retinal cone dystrophy type 3B. This result raised diagnostic and counseling challenges that could be resolved through mutation screening of a large panel of healthy population controls. The strategy and findings of this study may inform the search for new disease mutations in the largest European genetic isolate
Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes
\ua9 The Author(s) 2024.Exploring the molecular basis of disease severity in rare disease scenarios is a challenging task provided the limitations on data availability. Causative genes have been described for Congenital Myasthenic Syndromes (CMS), a group of diverse minority neuromuscular junction (NMJ) disorders; yet a molecular explanation for the phenotypic severity differences remains unclear. Here, we present a workflow to explore the functional relationships between CMS causal genes and altered genes from each patient, based on multilayer network community detection analysis of complementary biomedical information provided by relevant data sources, namely protein-protein interactions, pathways and metabolomics. Our results show that CMS severity can be ascribed to the personalized impairment of extracellular matrix components and postsynaptic modulators of acetylcholine receptor (AChR) clustering. This work showcases how coupling multilayer network analysis with personalized -omics information provides molecular explanations to the varying severity of rare diseases; paving the way for sorting out similar cases in other rare diseases
Measures for verification of contractors by means of information and analytical systems based on existing methods
The article presents the main measures to determine the reliability of contractors based on existing methods of the Federal tax service and the use of information and analytical systems
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness
Several hundred genetic muscle diseases have been described, all of which are rare. Their clinical and genetic heterogeneity means that a genetic diagnosis is challenging. We established an international consortium, MYO-SEQ, to aid the work-ups of muscle disease patients and to better understand disease etiology. Exome sequencing was applied to 1001 undiagnosed patients recruited from more than 40 neuromuscular disease referral centers; standardized phenotypic information was collected for each patient. Exomes were examined for variants in 429 genes associated with muscle conditions. We identified suspected pathogenic variants in 52% of patients across 87 genes. We detected 401 novel variants, 116 of which were recurrent. Variants in CAPN3, DYSF, ANO5, DMD, RYR1, TTN, COL6A2, and SGCA collectively accounted for over half of the solved cases; while variants in newer disease genes, such as BVES and POGLUT1, were also found. The remaining well-characterized unsolved patients (48%) need further investigation. Using our unique infrastructure, we developed a pathway to expedite muscle disease diagnoses. Our data suggest that exome sequencing should be used for pathogenic variant detection in patients with suspected genetic muscle diseases, focusing first on the most common disease genes described here, and subsequently in rarer and newly characterized disease genes
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