9 research outputs found
Biallelic ELOVL1 Variants Are Linked to Hypomyelinating Leukodystrophy, Movement Disorder, and Ichthyosis
No full textAbstract Background Very long chain fatty acids (VLCFAs) are an integral component of myelin and the epidermal water barrier. Variants in genes encoding enzymes responsible for catalyzing the first and rate limiting step in the production of VLCFAs, elongation of VLCFAs (ELOVLs), underlie a novel group of metabolic disorders. Objectives The goal was to describe the clinical phenotype and disturbance in VLCFA metabolism associated with variants in the ELOV1 gene. Methods The following methods were employed: Exome sequencing, clinical phenotyping, magnetic resonance imaging (MRI), metabolomics, liquid chromatography–tandem mass spectrometry, fatty acid elongation assay. Results We, here, describe seven patients with autosomal recessive variants in ELOVL1 . Common clinical features included ichthyosis (5/7), developmental delay (7/7), progressive spasticity (7/7), nystagmus (5/6), and a complex movement disorder characterized by pronounced head tremor (7/7), myoclonus (6/7), and dysarthria (6/6). Brain MRI revealed non‐progressive hypomyelination (6/6) and hypoplasia of the corpus callosum (5/6). Plasma VLCFA analysis in one patient showed reduced concentrations of C24:0 and C26:0. Biochemical analysis of fibroblasts from this patient revealed elongation defects in VLCFA synthesis and dysregulation of other ELOVL enzymes. Conclusions We show that biallelic variants in ELOVL1 are associated with a unique and recognizable phenotype of hypomyelinating leukodystrophy, ichthyosis, and a complex movement disorder including progressive spasticity, head tremor, and myoclonus. Biochemical analyses confirmed a defect in VLCFA synthesis. Variants in genes encoding enzymes involved in the elongation of VLCFAs are a novel group of metabolic disorders with overlapping symptoms. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society
From Emporia to 'Diaspora'? The Samians in the Western Mediterranean (7th-5th centuries BC)
No full textThe paper examines a set of experiences related to the presence of Samians both in eastern and in western parts of the archaic Mediterranean and explores the idea that a special model of their attendance abroad could be traced. Based on various examples from the sixth to the first quarter of the fifth centuries, the Author argues that this peculiar feature might be singled out within the wider framework of occurrences in Western Mediterranean of Greek people from Ionia, a scenario in which emporie and “diaspora” seem to have been the two main forms
Insights into diagnostic difficulties in spinal muscular atrophy: a Case Report series
No full textSpinal muscular atrophy (SMA) is a progressive neuromuscular disorder caused by mutations in SMN1, with disease severity influenced by the number of SMN2 copies. Although SMA is one of the most common autosomal recessive disorders, molecular diagnosis still presents challenges. We present a case series illustrating the variable clinical presentations and diagnostic complexities of spinal muscular atrophy (SMA). Case 1 highlights the importance of multiplex ligation-dependent probe amplification (MLPA) and sequencing for detecting heterozygous deletions and novel variants. Case 2 highlights the limitations of neonatal screening, in which a heterozygous deletion was overlooked. Case 3 demonstrates the need for thorough clinical examination and relevant genetic testing in patients with dual diagnoses, in this case Down syndrome and SMA. In cases 4, 5, and 6, the pseudodominant inheritance pattern is examined in a familial context, highlighting the need for thorough genetic analysis. The presented case series emphasizes the diagnostic challenges and the crucial role of various molecular techniques in the accurate diagnosis and management of SMA
Clinical and genetic landscape of IGHMBP2 -related disorders: From novel variants to phenotypic insights
No full textPathogenic variants in IGHMBP2 have been associated with spinal muscular atrophy with respiratory distress type 1 (SMARD1) and Autosomal Recessive Charcot-Marie-Tooth disease type 2S (AR-CMT2S), as well as a relatively wide spectrum of rare, atypical phenotypes. We describe clinical and molecular features of five patients who have diverse clinical findings associated with known and novel IGHMBP2 pathogenic variants. Genotype-phenotype correlations are evident, highlighting the association of specific variants with SMARD1 or AR-CMT2S. This study expands the spectrum of the IGHMBP2-related disease and highlights the necessity to study diverse populations to enhance diagnostic accuracy and refine genotype-phenotype correlations
Author Correction: The bears from Dmanisi and the first dispersal of early Homo out of Africa
No full textAn amendment to this paper has been published and can be accessed via a link at the top of the paper
The Sense of Alienation - the Main Human Experience. ''City Gates'' by Elias Khoury
No full textეძღვნება პროფ. გოჩა ჯაფარიძის ხსოვნას (1942 – 2020)/ Dedicated to Memory of Prof. Gocha Japaridze (1942 – 2020)The concepts of “a stranger", “an alien”, “an exile” are of great importance concerning
one of the earlier small-format novels “City Gates”, by a modern Lebanese
writer, novelist, literary critic Elias Khoury. The novel, written in 1981, is a postmodern
literary rendition of one of the well-known themes of “One Thousand and One Nights”-
"Cooper City". Although the author links this theme to his most poignant topic - the
Beirut Civil War and its invocations, in this short novel the reader cannot see Beirut
directly. There is no mention of war either. The main character of the novel is a stranger
travelling to a distant city and his strength lies in his sense of alienation, because it is the
sense of alienation that leads him to the divine truth, to his essence of worldview.
Alienation is a torment to him and, at the same time, an expression of his prominence, a
means of accessing the divine truth. His path is the path of God, the path leading to
God; his life experience is simultaneously a form of ecstasy that transcends worldly and
divine divisions between the soul and the matter. His world is a place of exile, where
everything and everyone reminds him of his alienation and sets him free from being
chained to the earthly orientation. The way back from this alienation is cut for him, his
earthly ideas about identity are completely gone, for he no longer has the memories of
his lost homeland. He does not seek to overcome the alienation and suffering, to end it,
on the contrary, he continues its course tirelessly, alienation is deeply rooted in him, and
after overcoming many obstacles that resemble apocalyptic scenes, he reaches his goal.
After a countless day and a cold, rainy night he succeeds and fails, at the same time, to
reach the city- the city, where he thought he was expected, first was consumed by fire,
then the sea swallowed fire, and covered the city, and the place plunged into the water
and disappeared. Thus, beauty and truth remained unobtainable to the man trying to
gain it. This means that the man was in search of something that does not exist in this
world, something that is only otherworldly. The distressing prospect of salvation for
him lies precisely in this alienation and motion - the travel to the promised land
Iran in the Novel by Shekoofeh Azar – “The Enlightenment of the Greengage Tree”
No full textეძღვნება პროფ. გოჩა ჯაფარიძის ხსოვნას (1942 – 2020)/ Dedicated to Memory of Prof. Gocha Japaridze (1942 – 2020)Shokoofeh Azar is an Iranian writer, residing in Australia. She is the author of the
novel “The Enlightenment of the Greengage Tree”, English translation of which was
shortlisted at the International Booker Prize for Fiction in 2020. The competition jury
wrote about the novel: “The novel “The Enlightenment of the Greengage Tree” by Iranian-
Australian writer Shokoofeh Azar is deeply impressive novel, which was translated
from Persian into English. The storyline concerns Iran, the narrator is a spirit of
thirteen-year-old girl Bahar, who tells us about the hard times of the life of the family
and society since 1979 Islamic revolution. The novel is written in style of magical
realism. She mixes the narrative manner characteristic for the classic Persian fiction to
the Latin magical realism writing techniques, which merges with the Iranian folk ideas,
fairy tales and myths. She tells us about the political regime, which is responsible for
ruining many lives.”
The writer herself gives the novel such definition: “The message of the „The Enlightenment
of the Greengage Tree” is how the culture, art, hope and dream of the Iranian
man can survive in the conditions of the political-religious stupidity and tongs… The
novel is entirely the critic of the Islamic Revolution and Islam itself, for some extent.”
Until now, the translator of the novel is still anonymous for his/her own safety, as
the author of the book is banned by censor in Iran. Nevertheless, the copies of the novel
illegally transported to Iran, are legally sold inside the country.
As we have already mentioned, Shokoofeh Azar has created this novel on the
principles of magical realism. This important artistic method of the contemporary world
literature, yet more in the Persian literature and in women literature in particular is
extremely popular. Perhaps, because of its mythopoetic nature, and on the other hand -
the special place of symbolism in it, the writer explains this issue in this way: „I wanted
to cover the socio-political cruelty issues via magical realism and, simultaneously,
expose the Iranian (non-Islamic) culture aesthetics and its beauty”.
The mainline of the novel is represented by the real events and current political
situation, in particular, Islamic revolution and the severity and absurdity of the further
period. And, the second level of the novel, and indeed the more important layer of the
novel, is an illustration of the writer's main point: the beauty of the eternal values;
capacity of the ethno cultural values – unlike transient human fuss and stupidity.
The ironic debates on the „immensity” of the Islamic Revolution, “people’s desire”
is worth notable.
Officially, in the elections, 98% of the population supported Khomeini. In the
village, where the action of the novel takes place and even in that region, neither the
name of Khomeini, nor the Iran-Iraqi war and the Revolution is being heard.
When the countryman Hosseini comes to his village in order to involve the
villagers in war and briefly talks about revolution, Iran-Iraqi war, the terrible actions of
the Americans and the heroism of the Iranian warriors, the villagers listen to him
unwindingly and only the elderly man asks him: „But, where is Iraq? Who is America?”
Revolution and its following period is represented in the novel with its severe
diversity. Detaining, torture, death penalty; searching, property confiscation, burning of
books are against the backdrop of the whole text.
Another worth-noting issue, which appears in various angles across the novel is a
woman issue. The writer, apart from the realistic, earthborn images, in the way of
mythologization of the scene, creates the mythopoetic characters with a style of magical
realism, with whom override of the feminine origins are becoming more vivid and
impressive, and the cruelty of the Revolution - dark and unacceptable. In the novel, we meet real characters, with their everydayness. These women live
in the realistic hoop of the novel and patently show the reader their cheerless, monotonous
and bordered existence.
Completely deprived of their rights, the voiceless servants of their husbands,
although they are against Bita’s torture by their husbands, obediently return home,
where they have to get the dinner ready, help their children with their homework.
Overall, women’s everydayness – “women errands” wait for them. External affairs,
even it is violence on a woman, does not concern them. “It is man’s business”, - that’s
what they were told by their husbands and they have accepted.
Apart from woman, Shokoofeh Azar represents generally the role of the human
and its definition issue in the society.
In the episodes of Bita’s torture and murder, a whole spectrum of people of
different attitudes and worldviews is shown; But despite this apparent difference, the
result of their actions is the same. Among so many people, no one was found who
would effectively raise up against the so-called cruelty of society. Some were hampered
by the laziness, some – by the skills, assessing realistically the events, knowing that
he/she was unable to change anything; some of them – by the fear of losing his/her career
growth; some – by the close relations and relative connections with the murderers.
In the episode, which represents perfect psychologic portrait of the so-called
society, it is obvious that the writer characterizes not only the current Iranian situation
and injustice of the Islamic regime. It is her protest against the human nature, which
produces numerous unjustified actions and severity. As long as people are only
obsessed with ensuring their own well-being, as long as the other person is "other" and
"alien" for them, for whom it is not worth bothering, injustice and cruelty in this world
will exist, and where, in which country exactly will this cruelty rise - in Iran or
elsewhere, nobody knows; and person cannot determine when it will spread its wings. It
is difficult for a human to live in such an unstable and cruel world
References of Ibn Khordadbeh about provinces Adarbayğān and Armīniya and Caucasus according to manuscript Meshhed, Astan Quds 15189
No full textეძღვნება პროფ. გოჩა ჯაფარიძის ხსოვნას (1942 – 2020)/ Dedicated to Memory of Prof. Gocha Japaridze (1942 – 2020)Ibn Khordadbeh was a 9th century geographer of Persian origin. According to Ibn
an-Nadim, he should have been the author of eight books. Only two of them have been
discovered and published, including ,,the Book of amusements and musical instruments''
and ,,the Book of Roads and Kingdoms ''. Ibn Khordadbeh created two versions of this
last book, the date of writing of the first of them is 846-847 (232 A.H.), and the second
is 885. Three crucial themes dominate this geographical work: taxation; the situation at
the borders and bordering areas; and roads, with distances and directions. It should be
noted that the reports refer to a relatively large area from Spain to the Korean peninsula
and from the head of the Volga to Indonesia.
It is noteworthy that Ibn Khordadbeh is the author of one of the first geographical
works in the history of the Arab-Islamic Caliphate, whose work has come down to us.
European researchers have been interested in Ibn Khordadbeh's geographical writings
since the second half of the 19th century. The first critical edition of Arabic text was
published in 1865 by the orientalist Charles de Maynard, based on two different
manuscripts. A little later, de Goeje published a new edition in 1889 with a French
translation based on 3 manuscripts. It should be noted that the information about the
Caucasus, according to de Goeje's edition, was translated into Russian by N. A.
Karaulov, published in 1903 in the XXXII issue of СМОМПК, a complete translation of the text into Russian was published by N. Velikhanova, with extensive comments, in
1986 in Baku. In 2022, our thesis was published, one of the sub-chapters was about the
reports of Ibn Khordadbeh according to the editorship of De Goeje.
As for the manuscript Meshhed, Astan Quds 15189, it became known to the
general public by the article L'AzerbaÏdjan et l'Arménie dans un fragment inédit d'Ibn
Ḫurradāḏbih (Meshhed, Astan Quds 15189) by Jean-Charles Ducéne published in the
,,Journal Asiatique'' 2021, #309/2. References from the given manuscript are much more
extensive in relation to Adarbayğān and Armīniya. However, it does not include the
references scattered in different chapters in Ibn Khordadbeh's work done by de Goeje’s
edition. For example, the description of the wall of Yāğūğ and Māğūğ, talks about the
journey of Salam at-Tarğuman and the status of Amira Ishaq ibn Ibrahim. The
manuscript consists of 8 pages in total and the information contained in it refers to the
cities and distances of Adarbayğān and Armīniya. The dimensions of the manuscript are
27 cm. at 16.5 cm. The manuscript is bound in one hand and has about 17 lines per
page. Diacritical marks are rarely used and most of the text is unvocalised. One detail is
also different, in de Goeje's edition we have one title and subsequently, under it, the
regions, routes and others are united. In the manuscript Meshhed, Astan Quds 15189, it
seems that different directions are broken as titles, for instance: The road from Marāgha
to Salamās or The towns of Armīniya.
As for novelty, to follow the text, it is interesting the note about the gates of
Marāgha, which is given in the paragraph Road from ad-Dīnawar to Adarbayğān. The
manuscript names 6 gates and describes of the various areas of trade destinations that
were located near or between the gates. There is also a note of the Qūlsara market,
which is more extensive than other existing reports. It specifies the number of trading
days, goods and their total value. It seems that this fair was used to connect the people
of Adarbayğān and Armīniya. References often contain various Rustāks that are not in
de Goeje's edition, and most of their names require furder clarification and additional
researche. However, this is not an easy task because, often, they are just names of
villages, and therefore, over time, they disappeared. Another issue is their amount for
example, Wrtān has 4 Rustāks, whit 90 villages. Or Mūkān, which should have had 4
thousand villages. The accuracy of correct rendering of names and their Arabicized
forms is also a problem.
The road given in de Goeje's edition from ad-Dīnavar to Barzand, Jean-Charles
Ducéne points out that is the same reference in the manuscript Meshhed, Astan Quds
15189, given the route taken by Muḥammad ibn Ḥamūd. However, this is not entirely
accurate, although some references match, the information given by de Goeje's edition
is much more extensive and many more places are named in the itinerary. We believe
that these references are significantly different from each other and we have less
similarity between them.
Distances and routes from Tbilisi to different directions are worthy of attention for
us. As usual, the distances to Tbilisi can be found in Arabic historiographical or
geographical writings of the Middle Ages. For example, from Dvini to Tbilisi and from
Barda to Tbilisi, as it is given even in this manuscript. But also, in this case, we have
that rare exception, in which the cut-off point is Tbilisi: There are 53 farsakhs between
Tiflīs and Dabīl, and 30 farsakhs between Dabīl and Khilāṭ. There are 14 farsakhs
between Nashawā and Khūy, 60 farsakhs between Nashawā and Khilāṭ, 10 farsakhs
between Khilāṭ and Tiflīs. There are 32 farsakhs between Tiflīs and Mutawakiliya, 20
farsakhs between Tiflīs and Qisāl, 12 farsakhs between Qisāl and Mutawakiliya, 27 farsakhs between Tiflīs and Bāb al-Lān ( ﯨاﯨلان ), and 80 farsakhs between Tiflīs and
Kālīlkalā.
It is also interesting for us to mention the toponym 'Aḥrān. We make a cautious assumption
that this toponym could mean Hereti. As far as the mentioned toponym is
named next to Tsanar, Derbent, Tbilisi, Soghdabil, Darial and Ğurzan. This may be the
first confirmed mention of Hereti in medieval Arabic references. However, just one
reference is not enough to say anything conclusively.
We would also like to respond to the toponym 'Abkhāz ( ابخاز ) mentioned in the
reference, on which Jean-Charles Ducéne indicates in his commentary that this term
refers to the territory of the ,,Abkhazian'' people and Abkhazia of Georgia is not meant
here. We think that here the author makes a certain mistake, and we should mean
modern Lahich, under the mentioned toponym Lāyğān ( لایجان ). As the Arabic graphics
of the toponym Lāyğān is close to al- 'Abkhāz, and this is not the first time when these
names are confused (as an example, we have al-Istakhri). In addition, the Arab-Muslim
authors used the name Abkhaz to denote Georgians and Georgia. We will also add that
the named toponym was located in the eastern Caucasus, which place was never settled
by any tribe with the name "Abkhaz", even more so the name of the city founded by
them.
We would also like to mention the toponym Ḥayzān/Khayzān, which is also given
in this reference. In an article we published in 2021, we talked about the fact that
Khayzān was not the same Khaydāk as some scholars believed. In this case, we have a
report in which both toponyms are mentioned separately, we have the village of
Khayzān and Ṣāḥib Khaydāk. Thus, the sameness of these two names is once again
ruled out and they are different places.
At the end of the references, there is another interesting name Ṣāḥib al-Qurğ or
owner of al-Qurğ. It is impossible to say what can be meant here for sure. But since the
Ğurzan form is mentioned in the text, we may take al-Qurğ as an ethnonym. It is also
not excluded that, al-Qurğ can be the name of some parts of Kartli, even Inner Kartli,
and the name Ğurzan is name of the whole of Eastern Georgia.
To summarize, the fragment of Ibn Khordadbeh's manuscript, which fortunately for
us refers to the Caucasus region, is a rather interesting source. The mentioned material
fills in some details about the medieval Caucasus region, the provinces of Azarbayğān
and Armīniya. At the same time, it allows some new opinions or hypotheses to be
expressed, to strengthen the existing opinions and fill in a significant part of the gaps in
Ibn Khordadbeh's writings regarding the geography, routes, and toponymy of the
region.
The article is accompanied by a translated text from Jean-Charles Ducéne’s named
article with some comments
