Amyotrophic lateral sclerosis (ALS) is a fatal, progressive neurodegenerative disease of motor neurons. Most ALS cases are considered sporadic due to the presence of a combination of environmental ...and complex genetic risk factors, while approximately 10% of cases have a family history. Pathogenic variants in the
SOD1
gene are the second most frequent causative factor of genetics-based ALS worldwide, after
C9ORF72
hexanucleotide repeat expansion. The
De novo
occurrence of pathogenic mutations in ALS-associated genes and its effect on disease progression have been studied previously, especially in the
FUS
gene. Recent studies have shown that a very small portion of
SOD1
cases occurred
de novo
. Here, we present the first
de novo
case of the
SOD1
His47Arg mutation in a young female patient with mild symptoms and, currently, a slow progression for 7 years.
Sarcopenia, a geriatric syndrome, is an indicator of poor prognosis in elderly inpatients. In this study, we aimed to determine the effect of sarcopenia on mortality in elderly patients.
...Mobile/immobile geriatric inpatients, treated in the internal medicine ward between February and November 2018, were included in the study between Days 2 and 7 of hospitalization. The patients' fat-free mass (FFM) was measured by bioimpedance. The FFM index (FFMI) (kg/m
) was determined by dividing fat-free mass by body surface area (FFM/BSA). Sarcopenia was defined as a FFMI value at least two standard deviations below the gender-specific mean of normal young adults.
The study included 200 geriatric inpatients; 96 (48.0%) were men, and the mean age was 74.49±6.32 years. Sarcopenia was detected in 28 (14%) of the patients. Diabetes mellitus was associated with a significantly lower sarcopenia prevalence (p=0.006). The risk of sarcopenia was 9.046 times higher in malnourished patients. The sarcopenia group had more deaths (p=0.012).
Sarcopenia in geriatric inpatients increased the length of hospital stay and mortality. Our findings may guide future studies examining the relationship between sarcopenia and mortality among elderly inpatients in other hospitals.
In the first half of the nineteenth century, the number of travellers to Istanbul increased in relation to developments in international trade, transportation, and communication. Despite the ...consensus among many historians that facilities were very poor before the 1840s and that the first modern hotels were established afterwards, contemporary sources present a different picture. A new culture of accommodation for travellers flourished from the late 1810s onwards in the Pera district of the city. This paper investigates the emergence of hosting as a business in Istanbul in the context of the economic history of the region. During a time of increasing international trade, hosting was considered as a prime business opportunity by entrepreneurs.
This study aimed to comprehend how individuals in emerging adulthood characterize friendship. This study adopted a qualitative design to obtain in‐depth information about the elements in emerging ...adults' definitions of friendships. The study was conducted with university samples and non‐university samples. As a result of the study, the elements in the friendship definitions of the participants were grouped under five themes: behavioral processes; cognitive processes; emotional processes, structural characteristics, and distinctive features. Accordingly, sharing, fun, assistance, boundaries, and altruism sub‐codes were categorized under behavioral processes; while trust, compatibility, commitment‐fidelity, and respect sub‐codes were categorized under cognitive processes. Intimacy, requirement sub‐codes were categorized under affective processes and openness, homogeneity, heterogeneity, and reciprocity sub‐codes were grouped under structural characteristics themes. Apropos of distinctive features they included the sub‐codes of developmental support, unconditional acceptance, isolation‐vigilant, closeness, friend as a life partner, and network. In addition to the codes in the university sample, “Effects of marriage” was the only code that differed in the non‐university sample.
Amyotrophic lateral sclerosis (ALS) leads to paralysis and death by progressive degeneration of motor neurons. Recently, specific
mutations in
were identified in patients with juvenile form of ALS
...encodes the second catalytic subunit of the serine-palmitoyltransferase (SPT) complex.
We used the GENESIS platform to screen 700 ALS whole-genome and whole-exome data sets for variants in
. The
status was confirmed by Sanger sequencing. Sphingolipidomics was performed using liquid chromatography and high-resolution mass spectrometry.
Two unrelated patients presented with early-onset progressive proximal and distal muscle weakness, oral fasciculations, and pyramidal signs. Both patients carried the novel
mutation, c.203T>G, p.Met68Arg. This variant lies within a single short transmembrane domain of SPTLC2, suggesting that the mutation renders the SPT complex irresponsive to regulation through ORMDL3. Confirming this hypothesis, ceramide and complex sphingolipid levels were significantly increased in patient plasma. Accordingly, excessive sphingolipid production was shown in mutant-expressing human embryonic kindney (HEK) cells.
Specific
mutations in both core subunits affect the homoeostatic control of SPT.
represents a new Mendelian ALS gene, highlighting a key role of dysregulated sphingolipid synthesis in the pathogenesis of juvenile ALS. Given the direct interaction of SPTLC1 and SPTLC2, this knowledge might open new therapeutic avenues for motor neuron diseases.
Objective: The morphological and morphometric variations of the hyoid bone (os hyoideum) are known to be significant in cervical surgeries and also serve as important evidence in forensic cases ...involving hanging and strangulation. The aim of this study is to investigate the morphological and morphometric differences of the hyoid bone. Methods: Sixty-four adult hyoid bones of unknown age and gender were used in our study. Ethical approval for the study was obtained from the Istanbul Faculty of Medicine Clinical Research Ethics Committee (date/number: 15.12.2021/632888). The bone shape variations were classified into four main groups: D, U, B, and V types according to the morphometric measurements of the hyoid bone. Also the hyoid bones were evaluated based on their symmetry and isometry properties. Morphometric measurements were analyzed for reliability and repeatability using TEM, rTEM, and R tests, with the same person measuring twice. Measurements were calculated using the Image J program. The data were analyzed using SPSS v.21. Results: The percentages of D, U, B, and V types were found to be 53.84%, 23.07%, 15.38%, and 11.53%, respectively. Among the hyoid bones, 34 (53.12%) were found to be asymmetrical, 30 (46.88%) symmetrical, 35 (54.69%) anisometric, and 29 (45.31%) were isometric. Conclusion: Our study's results indicate that the hyoid bone of Anatolian individuals exhibits morphological differences compared to other populations. Understanding the morphological and morphometric values of the hyoid bone can contribute to clinical and forensic applications. Keywords: forensic application, hyoid bone, morphometry, morphology, variation
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