Black Hole Entropy: From Shannon to Bekenstein

In this note we have applied directly the Shannon formula for information theory entropy to derive the Black Hole (Bekenstein-Hawking) entropy. Our analysis is semi-classical in nature since we use the (recently proposed [8]) quantum mechanical near horizon mode functions to compute the tunneling probability that goes in to the Shannon formula, following the general idea of [5]. Our framework conforms to the information theoretic origin of Black Hole entropy, as originally proposed by Bekenstein.Comment: 9 pages Latex, Comments are welcome; Thoroughly revised version, reference and acknowledgements sections enlarged, numerical error in final result corrected, no major changes, to appear in IJT

Twenty-year clinical progression of dysferlinopathy in patients from Dagestan

© 2017 Umakhanova, Bardakov, Mavlikeev, Chernova, Magomedova, Akhmedova, Yakovlev, Dalgatov, Fedotov, Isaev and Deev.To date, over 30 genes with mutations causing limb-girdle muscle dystrophy have been described. Dysferlinopathies are a form of limb-girdle muscle dystrophy type 2B with an incidence ranging from 1:1,300 to 1:200,000 in different populations. In 1996, Dr. S. N. Illarioshkin described a family from the Botlikhsky district of Dagestan, where limb-girdle muscle dystrophy type 2B and Miyoshi myopathy were diagnosed in 12 members from three generations of a large Avar family. In 2000, a previously undescribed mutation in the DYSF gene (c.TG573/574AT; p. Val67Asp) was detected in the affected members of this family. Twenty years later, in this work, we re-examine five known and seven newly affected family members previously diagnosed with dysferlinopathy. We observed disease progression in family members who were previously diagnosed and noted obvious clinical polymorphism of the disease. A typical clinical case is provided

Back reaction, emission spectrum and entropy spectroscopy

Recently, an interesting work, which reformulates the tunneling framework to directly produce the Hawking emission spectrum and entropy spectroscopy in the tunneling picture, has been received a broad attention. However, during the emission process, most related observations have not incorporated the effects of back reaction on the background spacetime, whose derivations are therefore not the desiring results for the real physical process. With this point as a central motivation, in this paper we suitably adapt the \emph{reformulated} tunneling framework so that it can well accommodate the effects of back reaction to produce the Hawking emission spectrum and entropy spectroscopy. Consequently, we interestingly find that, when back reaction is considered, the Parikh-Wilczek's outstanding observations that, an isolated radiating black hole has an unitary-evolving emission spectrum that is \emph{not} precisely thermal, but is related to the change of the Bekenstein-Hawking entropy, can also be reproduced in the reformulated tunneling framework, meanwhile the entropy spectrum has the same form as that without inclusion of back reaction, which demonstrates the entropy quantum is \emph{independent} of the effects of back reaction. As our final analysis, we concentrate on the issues of the black hole information, but \emph{unfortunately} find that, even including the effects of back reaction and higher-order quantum corrections, such tunneling formalism can still not provide a mechanism for preserving the black hole information.Comment: 16 pages, no figure, use JHEP3.cls. to be published in JHE

Corrigendum: Twenty-year clinical progression of dysferlinopathy in patients from Dagestan [Front Neurol, 8, (2017) (77)] doi: 10.3389/fneur.2017.00077

The "Funding" section should be: This work was funded by Human Stem Cells Institute PJSC and Roman V. Deev. Theoretical part of this work was supported by Russian Scientific Foundation grant (14-15-00916). Ivan A. Yakovlev and Mikhail O. Mavlikeev were supported by the Russian Government Program of Competitive Growth of Kazan Federal University. The authors apologize for this error and state that this does not change the scientific conclusions of the article in any way

Back reaction, covariant anomaly and effective action

In the presence of back reaction, we first produce the one-loop corrections for the event horizon and Hawking temperature of the Reissner-Nordstr\"om black hole. Then, based on the covariant anomaly cancelation method and the effective action technique, the modified expressions for the fluxes of gauge current and energy momentum tensor, due to the effect of back reaction, are obtained. The results are consistent with the Hawking fluxes of a (1+1)-dimensional blackbody at the temperature with quantum corrections, thus confirming the robustness of the covariant anomaly cancelation method and the effective action technique for black holes with back reaction.Comment: 17 page

The clinical case of limb-girdle muscle dystrophy 2Q associated with myasthenic syndrome and lung damage

Limb-girdle muscle dystrophy 2Q is one of the rarest forms of plectinopathies and is represented by an isolated muscular dystrophic syndrome, according to two previously described literature reports. There are five forms of plectinopathies, including limb-girdle muscle dystrophy 2Q, are caused by mutations in the PLEC gene, the alternative splicing of which determines the synthesis of 9 isoforms of the plectin protein (1, 1a, 1b, 1c, 1d, 1e, 1f, 1g, 3) performing cytolinker function in the neuronal, epithelial and muscle tissue.The article describes the family observation of three sick siblings with the limb-girdle muscle dystrophy 2Q phenotype due to the presence of a new homozygous mutation (NM_201378.3:c.58G>T, NP_958780.1:p.Glu20Ter) in the isoform 1f PLEC revealed by whole-exome sequencing. Clinical, electromyography, visualization and histopathological features of limb-girdle muscle dystrophy 2Q were analyzed in detail. The onset of clinical manifestations in all the described siblings was observed in early childhood with moderate weakness mainly in the pelvic girdle muscles and proximal lower limbs with minimal involvement of the muscles of the shoulder girdle. A distinctive aspect is the stagnation of the myodystrophic process until 20—21 years, followed by the progression and development of episodes of respiratory failure, as well as the formation of rigidity of the cervical, thoracic spine and moderate contracture of the Achilles tendons. Typical features are marked atrophy of paravertebral muscles with the formation of pterygoid scapula and the presence of hypertrophy m. gastrocnemius, m. quadriceps femoris, m. deltoideus and m. triceps brachii. Histopathological examination m. vastus lateralis revealed myodystrophic process without inflammatory infiltration, muscle fiber cytoskeleton disorganization resulted from the plectin loss.Electrocardiography signs of the early repolarization syndrome, focal cardiosclerosis and sinus tachycardia are described. For the first time, involvement in the pathological process of pulmonary tissue in the form of noninfectious bronchiolitis, atelectasis, and the development of the myasthenic syndrome causing episodes of respiratory failure resulted in the death of two described siblings aged 29 and 31 years. Discussed pathogenetic role of PLEC 1f isoform in the development of described syndromes, expands understanding of rare nosology limb-girdle muscle dystrophy 2Q

Methodology and implementation of the WHO European Childhood Obesity Surveillance Initiative (COSI)

Establishment of the WHO European Childhood Obesity Surveillance Initiative (COSI) has resulted in a surveillance system which provides regular, reliable, timely, and accurate data on children's weight status—through standardized measurement of bodyweight and height—in the WHO European Region. Additional data on dietary intake, physical activity, sedentary behavior, family background, and school environments are collected in several countries. In total, 45 countries in the European Region have participated in COSI. The first five data collection rounds, between 2007 and 2021, yielded measured anthropometric data on over 1.3 million children. In COSI, data are collected according to a common protocol, using standardized instruments and procedures. The systematic collection and analysis of these data enables intercountry comparisons and reveals differences in the prevalence of childhood thinness, overweight, normal weight, and obesity between and within populations. Furthermore, it facilitates investigation of the relationship between overweight, obesity, and potential risk or protective factors and improves the understanding of the development of overweight and obesity in European primary-school children in order to support appropriate and effective policy responses

Клинический случай поясно-конечностной мышечной дистрофии 2Q, ассоциированной с миастеническим синдромом и поражением легких

Limb-girdle muscle dystrophy 2Q is one of the rarest forms of plectinopathies and is represented by an isolated muscular dystrophic syndrome, according to two previously described literature reports. There are five forms of plectinopathies, including limb-girdle muscle dystrophy 2Q, are caused by mutations in the PLEC gene, the alternative splicing of which determines the synthesis of 9 isoforms of the plectin protein (1, 1a, 1b, 1c, 1d, 1e, 1f, 1g, 3) performing cytolinker function in the neuronal, epithelial and muscle tissue.The article describes the family observation of three sick siblings with the limb-girdle muscle dystrophy 2Q phenotype due to the presence of a new homozygous mutation (NM_201378.3:c.58G>T, NP_958780.1:p.Glu20Ter) in the isoform 1f PLEC revealed by whole-exome sequencing. Clinical, electromyography, visualization and histopathological features of limb-girdle muscle dystrophy 2Q were analyzed in detail. The onset of clinical manifestations in all the described siblings was observed in early childhood with moderate weakness mainly in the pelvic girdle muscles and proximal lower limbs with minimal involvement of the muscles of the shoulder girdle. A distinctive aspect is the stagnation of the myodystrophic process until 20—21 years, followed by the progression and development of episodes of respiratory failure, as well as the formation of rigidity of the cervical, thoracic spine and moderate contracture of the Achilles tendons. Typical features are marked atrophy of paravertebral muscles with the formation of pterygoid scapula and the presence of hypertrophy m. gastrocnemius, m. quadriceps femoris, m. deltoideus and m. triceps brachii. Histopathological examination m. vastus lateralis revealed myodystrophic process without inflammatory infiltration, muscle fiber cytoskeleton disorganization resulted from the plectin loss.Electrocardiography signs of the early repolarization syndrome, focal cardiosclerosis and sinus tachycardia are described. For the first time, involvement in the pathological process of pulmonary tissue in the form of noninfectious bronchiolitis, atelectasis, and the development of the myasthenic syndrome causing episodes of respiratory failure resulted in the death of two described siblings aged 29 and 31 years. Discussed pathogenetic role of PLEC 1f isoform in the development of described syndromes, expands understanding of rare nosology limb-girdle muscle dystrophy 2Q.Поясно-конечностная мышечная дистрофия 2Q является одной из наиболее редких форм плектинопатий и проявляется изолированным мышечным дистрофическим синдромом согласно двум ранее представленным в литературе описаниям. Пять существующих форм плектинопатий, в том числе поясно-конечностная мышечная дистрофия 2Q, обусловлены мутациями в гене PLEC, альтернативный сплайсинг которого определяет синтез 9 изоформ белка плектина (1, 1а, 1b, 1c, 1d, 1е, 1f,1g, 3), выполняющих цитолинкерную функцию в нейрональной, эпителиальной и мышечной тканях.В статье представлено описание семейного наблюдения 3 больных сибсов с поясно-конечностной мышечной дистрофией 2Q, обусловленного наличием новой гомозиготной мутации (NM_201378.3:c.58G>T, NP_958780.1:p.Glu20Ter) в изоформе 1f гена PLEC, выявленной с помощью полноэкзомного секвенирования. Детально проанализированы клинические, электронейромиографические, визуализационные и патогистологические особенности поясно-конечностной мышечной дистрофии 2Q. Дебют клинических проявлений у всех описанных членов семьи наблюдался в раннем детском возрасте в виде умеренной слабости преимущественно мышц тазового пояса и проксимальных отделов ног с минимальным вовлечением мышц плечевого пояса. Отличительным аспектом является стагнация миодистрофического процесса до 20—21 года с последующим прогрессированием и развитием эпизодов дыхательной недостаточности, а также формированием ригидности шейного, грудного отдела позвоночника и умеренной контрактуры ахилловых сухожилий. Характерными являются выраженная атрофия mm. paravertebralis с формированием крыловидных лопаток и наличие гипертрофии m. gastrocnemius, m. quadriceps femoris, m. deltoideus и m. triceps brachii. Патогистологическое исследование m. vastus lateralis отражает наличие миодистрофического процесса без воспалительной инфильтрации, дезорганизацию цитоскелета мышечных волокон и утрату плектина. Описаны электрокардиографические признаки синдрома ранней реполяризации, очагового кардиосклероза и синусовой тахикардии. Впервые в литературе представлено сочетание пояс-но-конечностной мышечной дистрофии 2Q с поражением легких в виде неинфекционного бронхиолита, ателектазов и развитием миастенического синдрома, обусловливающими эпизоды дыхательной недостаточности и повлекшие смерть 2 описываемых сибсов в возрасте 29 и 31 года. Обсуждаемое патогенетическое значение 1f-изоформы плектина в развитии описанных синдромов позволяет расширить представление о редкой нозологии — поясно-конечностной мышечной дистрофии 2Q

ОСОБЕННОСТИ ТЕЧЕНИЯ РЕФРАКТЕРНЫХ ФОРМ АНЕМИИ У ДЕТЕЙ С ХРОНИЧЕСКИМ ГЕПАТИТОМ В

Examination of 125 children with chronic hepatitis В and concomitant anemia has determined the frequency of refractory forms of anemia (52,5%). The disease progressed more severely on the background of anemia, which was indicated by the prevalence of CHВ forms with severe activity (71,4%). The pathognomonic symptoms of anemic processes were revealed. Two pathogenetic variants of the anemia genesis in children with CHВ are being considered: the first is defined by veritable iron deficiency with ferrokinetic markers of iron-deficiency anemia; the second — by relocationable iron deficit that is typical for hemosiderosis and refractoriness development.Обследование 125 детей, больных хроническим гепатитом В (ХГВ) с сопутствующей анемией, позволило установить частоту рефрактерных ее форм (52,5%). На фоне рефрактерной анемии заболевание протекало тяжелее, о чем свидетельствовало превалирование выраженных форм ХГВ (71,4%). Выявлены патогномичные для анемического процесса клинические симптомы. В генезе развития анемии при ХГВ у детей рассматриваются два патогенетических варианта течения: первый характеризуется истинным дефицитом железа со спектром феррокинетических маркеров, свойственных железодефицитной анемии; второй — перераспределительным дефицитом железа, характерным для гемосидерического состояния и развития рефрактерности

Магнитно-резонансный паттерн изменений мышц тазового пояса и нижних конечностей у пациентов с дисферлинопатиями

Introduction. Dysferlinopathy is a phenotypically heterogeneous group of hereditary muscular dystrophies caused by mutations in the dysferlin gene (DYSF). Debut in adolescence, predominantly in physically developed patients, combined with the often subacute development of hypercreatine phosphatemia and edematous muscle changes in MRI often leads to diagnostic errors. Purpose of the study: to determine the most typical MRI pattern of muscle damage of the pelvic girdle and lower limb in patients with dysferlinopathy. Materials and methods. 40 people were examined, among which 20 patients with a clinical picture of dysferlinopathy with an equal ratio of Miyoshi phenotypes and LGMD and an average age of 35 (24; 44) years. Comprehensive clinical and instrumental examination included neurological, electroneuromyographic and molecular genetic studies (NGS). Magnetic resonance imaging of the muscles of the pelvic girdle and lower limb was performed in 20 patients and a control group equivalent in sex and age. Results. The use of semi-quantitative MRI indicators — relative signal intensity — D (D=T1 muscle (STIR) / T1 (STIR) subcutaneous fat layer) made it possible to formulate the characteristics of a common typical MRI pattern of muscle involvement in dysferlinopathy. An increase in the intensity of the relative signal D, T1 in the rear muscle group of the thighs and lower legs, indicating fatty infiltration was observed most frequently, while a decrease in D, STIR values was observed in the anterior and medial muscles of the thighs, reflecting the presence of edema of the previous fatty degeneration of these muscles. Conclusion. In addition to the general idea of muscle involvement in dysferlinopathy, it is advisable to consider the «early», «typical / completed» and «late» MRI patterns of dysferlinopathy that increase the effectiveness of the diagnosis of this disease. In the differential diagnosis of the Miyoshi phenotype from LGMD, one should focus on maintaining normal values of D, T1 from m. gluteus maximus and m. popliteus at all stages of the disease.Введение. Дисферлинопатии — это фенотипически гетерогенная группа наследственных мышечных дистрофий, обусловленных мутациями в гене дисферлина (DYSF). Дебют в подростковом возрасте преимущественно у физически развитых пациентов в сочетании с часто подострым повышением сывороточной креатинфосфокиназы и отечными изменениями мышц при магнитно-резонансной томографии (МРТ) часто приводит к диагностическим ошибкам. Цель исследования: определить наиболее типичный магнитно-резонансный (МР) паттерн поражения мышц тазового пояса и нижних конечностей у пациентов с дисферлинопатиями. Материалы и методы. Обследовано 40 человек, среди которых 20 пациентов с клинической картиной дисферлинопатий с равным соотношением фенотипов Миоши и поясно-конечностной мышечной дистрофией (ПКМД) и средним возрастом — 35 (24; 44) лет. Комплексное клинико-инструментальное обследование включало неврологическое, электронейромиографическое и молекулярно-генетическое исследование (NGS). Магнитно-резонансная томография мышц тазового пояса и нижних конечностей проведена 20 пациентам и эквивалентной по полу и возрасту контрольной группе. Результаты исследований. Использование полуколичественных МР-показателей — относительной интенсивности сигнала — D (D=Т1 мышцы (STIR) /Т1(STIR) подкожно-жирового слоя) позволило сформулировать характеристики общего типичного МР-паттерна вовлечения мышц при дисферлинопатиях. Наиболее часто отмечалось повышение интенсивности относительного сигнала D, Т1-ВИ в задней группе мышц бедер и голеней, свидетельствующее о жировой инфильтрации, тогда как снижение величин D, STIR наблюдалось в передних и медиальных мышцах бедер, что отражало наличие отека, предшествующего замещению жировой тканью данных мышц. Заключение. Кроме общего представления о вовлечении мышц при дисферлинопатиях, целесообразно рассматривать «ранний», «типичный/завершенный» и «поздний» МР-паттерны дисферлинопатий, повышающие эффективность диагностики данного заболевания. В дифференциальной диагностике фенотипа Миоши от ПКМД следует ориентироваться на сохранение нормальных величин D, Т1-ВИ от m. gluteus maximus и m. popliteus на всех стадиях заболевания