Type Research Articles

The N-Terminal Fragment of Urine Titin Is Not a Product of Degradation by Calpain 3.

A 20 kDa fragment at the N-terminus of titin is highly excreted in the urine of patients with Duchenne muscular dystrophy (DMD), making urine titin a prominent biomarker for muscle breakdown. This N-terminal fragment is presumed to be a product of degradation by a protein-degrading enzyme, calpain 3; however, whether calpain 3 is required remains unclear. We aimed to determine whether urine titin elevation occurs in the absence of calpain 3. We measured urine titin by ELISA in two genetically confirmed limb-girdle muscular dystrophy type R1(LGMDR1) patients, 11 other LGMD patients, and five healthy controls. Five Capn3-/- and nine wild-type mice were also examined. Urine titin in LGMDR1 patients was ~100-fold higher than in controls (median 112.3 vs. 1.3 pmol/mg Cr, p < 0.0001), with no difference between LGMDR1 and other LGMD subtypes. Similarly, urine titin levels in Capn3-/- mice were more than four times higher than normal (p < 0.01). These results suggest the involvement of other protein-degrading enzymes leading to the production of the N-terminal fragment.

Quantitative muscle magnetic resonance imaging in limb-girdle muscular dystrophy type R1 (LGMDR1): A prospective longitudinal cohort study.

Limb-girdle muscular dystrophy (LGMD) type R1 (LGMDR1) is the most common subtype of LGMD in Europe. Prospective longitudinal data, including clinical assessments and new biomarkers such as quantitative magnetic resonance imaging (qMRI), are needed to evaluate the natural course of the disease and therapeutic options. We evaluated eight thigh and seven leg muscles of 13 LGMDR1 patients (seven females, mean age 36.7 years, body mass index 23.9 kg/m2) and 13 healthy age- and gender-matched controls in a prospective longitudinal design over 1 year. Clinical assessment included testing for muscle strength with quick motor function measure (QMFM), gait analysis and patient questionnaires (neuromuscular symptom score, activity limitation [ACTIVLIM]). MRI scans were performed on a 3-T MRI scanner, including a Dixon-based sequence, T2 mapping and diffusion tensor imaging. The qMRI values of fat fraction (FF), water T2 relaxation time (T2), fractional anisotropy, mean diffusivity, axial diffusivity and radial diffusivity were analysed. Within the clinical outcome measures, significant deterioration between baseline and follow-up was found for ACTIVLIM (p= 0.029), QMFM (p= 0.012). Analysis of qMRI parameters of the patient group revealed differences between time points for both FF and T2 when analysing all muscles (FF: p< 0.001; T2: p= 0.016). The highest increase of fat replacement was found in muscles with an FF of between 10% and 50% at baseline. T2 in muscles with low-fat replacement increased significantly. No significant differences were found for the diffusion metrics. Significant correlations between qMRI metrics and clinical assessments were found at baseline and follow-up, while only T2 changes in thigh muscles correlated with changes in ACTIVLIM over time (ρ = -0.621, p< 0.05). Clinical assessments can show deterioration of the general condition of LGMDR1 patients. qMRI measures can give additional information about underlying pathophysiology. Further research is needed to establish qMRI outcome measures for clinical trials.

Biosystematic Studies, Distribution and Conservation Status of Guaiacum officinale L. in Karnataka State

Guaiacum L. is an evergreen tree indigenous to South America, West Indies and USA. It was introduced during British period. The stem is hard, abundant resin wood, ash- grey-green bark and paripinnate leaves. The flowers are blue-purple in colour and occur in axillary clusters. The fruit is a capsule. Anomocytic, Paracytic and tertacytic types of stomata present only on abaxial surface of the leaf, trichomes absent on both surface. Pollen monad, radialy sysmmetric, tricolporate. The secondary veins are joined to form a loop at the margin. Phenolic test, alkaloid test etc. gave positive results. This plant is having commercial as well as medicinal value. In Karnataka state this plant found only in two places, one in Lalbagh, Bangalore and another in Karnataka College, Dharwad. Silviculture experiments were conducted but not succeeded. In both the places flowers are many, but fruit setting is negligible. It inhibits the spreading of the species in Karnataka.

Sexual Dimorphism in Caesalpinia platyloba Watson

Heterostyly and gynodioecism have been found in Caesalpinia platyloba Watson, and this is a new record for section Coulteria of the genus Caesalpinia L. The morphology and fertility of short-and long-style flower types are described and discussed their taxonomic significance.

Botany of Mt. Saramati and its Environs

The paper gives a brief account of botany of Mt. Saramati in Nagaland, India which represents the state's highest mountain peak (3841m), the remotest and the botanically unexplored area. A brief note on topography, geology, climate and vegetation together with a comprehensive analysis of the floristic compositions of the vegetation types and is followed by enumeration of the species of angiosperms and gymnosperms. Analysis of the species collected established the following five families as the richest ones on the basis of the number of the species. Orchidaceae (25), Poaceae (24), Asteraceae (17), Ericaceae (13), Cyperaceae (9). These together represent about 40% of the total number of species collected. All the species recorded in this paper, except Deyeuxia pulchella (Griseb.) Hook. f. (Poaceae) are new additions to the Kanjilal's Herbarium (ASSAM) from the area. There is also no record of any representation of plant species from there by Clarke (1886, 1889), Hooker (1872-97), Kanjilal et al. (1934-40), Bor (1942), Jamir and Rao (1088). The present paper, therefore, represents the first source of information regarding botany of the Mt. Saramati.

Foliar Anatomy of the Family Acanthaceae I. the Tribe Justiceae

The venation type, areole size, vein endings, vein tips and epidermal character have been described in 11 species of the tribe Justiceae of the family Acanthaceae. The features like unilacunar node, a prominent strand, venation patterns, structure of the epidermis, diamesogenous stomata, trichomes, lithocysts, etc. have been found to be useful in taxonomic considerations.

A Contribution to the Flora of Shivpuri, Madhya Pradesh

The paper deals with the flora of unexplored Shivpuri district of Madhya Pradesh as observed by the author during the year 1965 to 1967. The vegetation of this area is thorny scrub type. The collection made include 416 species in 311 genera belonging to 91 families.

Advances in body fluid identification: MiRNA markers as powerful tool.

Body fluids are one of the most encountered types of evidence in any crime and are commonly used for identifying a person's identity. In addition to these, they are also useful in ascertaining the nature of crime by determining the ty pe of fluid such as blood, semen, saliva, urine etc. Body fluids collected from crime scenes are mostly found in degraded, trace amounts and/or mixed with other fluids. However, the existing immunological and enzyme-based methods used for differentiating these fluids show limited specificity and sensitivity in such cases. To overcome these challenges, a new method utilizing microRNA expression of the body fluids has been proposed. This method is believed to be non-destructive as well as sensitive in nature and researches have shown promising results for highly degraded samples as well. This systematic review focuses on and explores the use and reliability of miRNAs in body fluid identification. It also summarizes the researches conducted on various aspects of miRNA in terms of body fluid examination in forensic investigations.

중국 20대 전반 여성 체형 유형화 연구

This study is to categorize the body types of Chinese w omen in their twenties based on their morphology and pr ovide basic data that can be used for Korean clothing co mpanies. Human body size data were directly measured o n 600 women in their twenties residing in Shanghai, Chi na from January 2020 to September 2023. The human bo dy measurement items include 9 perimeter items and 10 length items, measuring a total of 19 items. In order to extract factors that can analyze body shape, factor analysi s was conducted and two factors were identified. Factor 1 is “perimeter and width”, and factor 2 is “length”. The results of factor analysis were used to classify the body shape of Chinese women in their twenties into three type s. Summarize the characteristics of each type of body ty pe, with Type 1 being “thin type”, Type 2 being “ordina ry type”, and Type 3 being “developed type”.

Using the method of self-similar functions for estimating the normal boiling temperatures of homologous series

Using the method of self-similar functions for estimating the normal boiling temperatures of homologous series

Tire and Engine Sources Contribution to Vehicle Interior Noise and Vibration Exposure Levels

The main objective of the research presented in this paper is to enhance driver-passengers comfort of a vehicle that in turn leads to better vehicle safety and stability. The focus was put on studying the interior vibration and noise contributions originated from tire-road and engine-transmission subsystems, due to their significant impact on the dynamic performance of the vehicle. The noise and vibration measurements were recorded at the driver’s head position and on the driver legs room. Furthermore, the influence of different tire types and road surface textures on the vehicle interior noise and vibration were considered. The results indicate that the widely used conventional engine mounts and tires in commercial vehicles cannot fulfill the conflicting requirements for the best isolation concerning both road surface and engine-transmission induced excitations. The values of driver’s head position sound pressure level and floor vibration acceleration broadband averages originate for engine-transmission are lower than that for tire-road interaction. Furthermore, the values of RMS, crest factor, kurtosis and IRI for the vehicle waveform were estimated for vehicle speeds, tire types and road surface textures. Moreover, the percentage contribution for both interior noise and vibration originated from tire-road interaction is higher than the one from vehicle engine-transmission system in all the vehicle speed range, tire type and road surface texture considered.

Types of anxiety and depression: toward overlapping and distinctive features in affective and attentional functioning

Studies based on the most common diagnostic categories do not bring conclusive results concerning the overlapping and distinctive features of anxiety and depression, especially in the areas of attentional functioning, structure of affect, and cognitive emotion regulation. However, a new typology has been proposed which treats anxiety and depression as personality types (Fajkowska, 2013) . These types -arousal and apprehension anxiety as well as valence and anhedonic depression -are constructed based on two criteria: specific structure and functions (reactive or regulative). The present paper critically examines the empirical evidence related to this approach. The data mostly confirmed the prediction that the similarities and differences in attentional and affective functioning among the anxiety and depression types would be related to their shared and specific structural and functional characteristics. The new typology turned out to be suitable for integrating the existing research findings by relating them to the structure and functions of anxiety and depression. As a result, it is useful in explaining some of the inconsistencies in literature, as it allows to identify the overlapping and distinctive features of the anxiety and depression types. It also helps to understand the mechanisms contributing to the development and maintenance of anxiety and depression, which might be useful in diagnosis and treatment. However, even though Fajkowska's approach is an important contribution to the understanding of anxiety and depression, it is not exhaustive. Its limitations are discussed, along with proposed modifications of the theory, as well as further research directions.

Loss of calpain3b in Zebrafish, a Model of Limb-Girdle Muscular Dystrophy, Increases Susceptibility to Muscle Defects Due to Elevated Muscle Activity.

Limb-Girdle Muscular Dystrophy Type R1 (LGMDR1; formerly LGMD2A), characterized by progressive hip and shoulder muscle weakness, is caused by mutations in CAPN3. In zebrafish, capn3b mediates Def-dependent degradation of p53 in the liver and intestines. We show that capn3b is expressed in the muscle. To model LGMDR1 in zebrafish, we generated three deletion mutants in capn3b and a positive-control dmd mutant (Duchenne muscular dystrophy). Two partial deletion mutants showed transcript-level reduction, whereas the RNA-less mutant lacked capn3b mRNA. All capn3b homozygous mutants were developmentally-normal adult-viable animals. Mutants in dmd were homozygous-lethal. Bathing wild-type and capn3b mutants in 0.8% methylcellulose (MC) for 3 days beginning 2 days post-fertilization resulted in significantly pronounced (20-30%) birefringence-detectable muscle abnormalities in capn3b mutant embryos. Evans Blue staining for sarcolemma integrity loss was strongly positive in dmd homozygotes, negative in wild-type embryos, and negative in MC-treated capn3b mutants, suggesting membrane instability is not a primary muscle pathology determinant. Increased birefringence-detected muscle abnormalities in capn3b mutants compared to wild-type animals were observed following induced hypertonia by exposure to cholinesterase inhibitor, azinphos-methyl, reinforcing the MC results. These mutant fish represent a novel tractable model for studying the mechanisms underlying muscle repair and remodeling, and as a preclinical tool for whole-animal therapeutics and behavioral screening in LGMDR1.

Recombination and incomplete concerted evolution of the ribosomal 18S (partial) -ITS1-5.8S-ITS2-28S (partial) rDNA in Cynoglossus trigrammus genome

Recombination and incomplete concerted evolution of the ribosomal 18S (partial) -ITS1-5.8S-ITS2-28S (partial) rDNA in Cynoglossus trigrammus genome

Whole‐Body MRI in Limb Girdle Muscular Dystrophy Type R1/2A: Correlation With Clinical Scores

The most common limb girdle muscular dystrophy (LGMD) worldwide is LGMD type R1 (LGMDR1). The aim of this study was to correlate the magnetic resonance imaging (MRI) findings with functional scores and to describe the whole-body MRI (WBMRI) pattern in a LGMDR1 Brazilian cohort. LGMDR1 patients under follow-up in three centers were referred for the study. Clinical data were collected and a functional evaluation was performed, consisting of Gardner-Medwin and Walton (GMW) and Brooke scales. All patients underwent a WBMRI study (1.5T) with axial T1 and STIR images. Fifty-one muscles were semiquantitatively assessed regarding fatty infiltration and muscle edema. The study group consisted of 18 patients. The highest fatty infiltration scores involved the serratus anterior, biceps femoris long head, adductor magnus and lumbar erector spinae. There was a latero-medial and caudo-cranial descending gradient of involvement of the paravertebral muscles, with erector spinae being significantly more affected than the transversospinalis muscles (p<0.05). A striped appearance that has been dubbed the "pseudocollagen sign" was present in 72% of the patients. There was a positive correlation between the MRI score and GMW (Rho:0.83) and Brooke (Rho:0.53) scores. WBMRI in LGMDR1 allows a global patient evaluation including involvement of the paraspinal muscles, usually an underestimated feature in the clinical and imaging study of myopathies. Knowledge of the WBMRI pattern of LGMDR1 involvement can be useful in the diagnostic approach and in future studies to identify the best target muscles to serve as outcome measures in clinical trials.

Chelating and Construction Effects on a Self‐Assembled Blend for Electrochemical Lead (II) Detection

This work presents a study of self-assembled platforms of polyelectrolytes constructed by drop casting on screen-printed electrodes for lead (II) sensing. Infrared characterization by attenuated total reflection (ATR) and electrochemical impedance spectroscopy (EIS) were carried out to evaluate the modification of the surface, its stability against treatment and the changes induced by the adsorption of lead cations. An equivalent circuit of the type R1 [R2 CPE1] CPE2 that explained the results for the actual surface modification was obtained. Linear correlations with lead concentration in the range of 0.5–2.5 mm were found by differential pulse voltammetry (DPV) and EIS techniques for solutions at pH 3. There was a particular concentration in which the presence of citrate increased the DPV reduction signal of lead while ethylenediaminetetraacetic acid (EDTA) diminished it.

Short-term uncleaned signal to noise threshold ratio based end-to-end time domain speech enhancement in digital hearing aids

This paper presents the improvements in the combined solution for the noise estimation and the speech enhancement in digital hearing aids in time domain. This study focuses on the single channel statistical temporal speech enhancement using adaptive Wiener filtering. In this technique, the noise is updated based on the short-term uncleaned signal to noise threshold ratio (ST-USNTR) of the frame. It works best if and only if the back ground noise level is low compared to that of speech of interest. We considered the time domain algorithms in order to consider the time varying nature of speech signal. The performance of the proposed algorithm is evaluated for speech signal with seven ty pes of noises and three signal to noise ratios (SNR) levels in each type of noise. From the results, it is clear that the basic level of adaptive speech enhancement is obtained using statistical parameters of noisy speech without the need for reference input.

Generation of Calpain-3 knock-out porcine embryos by CRISPR-Cas9 electroporation and intracytoplasmic microinjection of oocytes before insemination

Limb girdle muscular dystrophy type R1 (LGMDR1) is an autosomal recessive myopathy described in humans resulting from a deficiency of calpain-3 protein (CAPN3). This disease lacks effective treatment and an appropriate model, so the generation of KO pigs by CRISPR-Cas9 offers a way to better understand disease ethology and to develop novel therapies. Microinjection is the main method described for gene editing by CRISPR-Cas9 in porcine embryo, but electroporation, which allows handling more embryos faster and easier, has also recently been reported. The objective of the current study was to optimize porcine oocyte electroporation to maximize embryo quality and mutation rate in order to efficiently generate LGMDR1 porcine models. We found that the efficiency of generating CAPN3 KO embryos was highest with 4 electroporation pulses and double sgRNA concentration than microinjection. Direct comparison between microinjection and electroporation demonstrated similar rates of embryo development and mutation parameters. The results of our study demonstrate that oocyte electroporation, an easier and faster method than microinjection, is comparable to standard approaches, paving the way for democratization of transgenesis in pigs.

Аналіз клінічних, генетичних і гендерних детермінант неефективного лікування в пацієнтів з артеріальною гіпертензією

Актуальність. Поліморфізм промоторної ділянки гену альдостеронової синтази CYP11B2 -344C/T (rs1799998) вiдiграє одну з ключових ролей в модуляції об’єм- і натрій-залежних механізмів артерiальноï гiпертензiï (АГ). Пошук маркерів ефективності антигіпертензивної терапії (АГТ) обумовлений частим недосягненням цільових рівнів АТ незалежно від характеру, дози антигіпертензивних препаратів (АГП), прихильності пацієнта до лікування.Мета. Метою роботи було визначити роль поліморфізму -344С/Т гену CYP11B2 в поєднанні з традиційними факторами ризику (ФР) в контролі артеріального тиску у пацієнтів з АГ ІІ-ІІІ ст.Матеріали та методи. Обстежено 93 пацієнта з АГ ІІ-ІІІ ст. Пацієнти були розділені на 2 групи: 1 гр . (n=38) – пацієнти з цільовим рівнем АТ на тлі АГТ, 2 гр. (n = 55) – пацієнти з АТ≥135/85 мм рт. ст. Всім пацієнтам виконували стандартні клініко-лабораторні дослідження, оцінювали ФР, виконували генотипування методом полімеразної ланцюгової реакції з визначенням довжини рестрикційних фрагментів та визначенням гаплотипу -344С/Т CYP11B2.Результати. Групи пацієнтів з різними рівнями АТ були порiвнюванi за частотою модифікованих ФР, кількісним та якісним складом АГТ. У групі осіб з неконтрольованою АГ частка курців, а також пацієнтів з супутнім цукровим діабетом 2 типу була достовірно вище в порівнянні з пацієнтами 1 гр. Аналіз частот алель них варіантів гену -344С/Т CYP11B2 показав, що частка пацієнтів, що мають Т- монозиготний генотип, була достовірно вище серед пацієнтів 2 гр.Висновок. Наявність Т-алеліі TТ-генотипу -344С/Т CYP11B2 в поєднанні з множинними ФР асоціювалася з недостатнім контролем АТ , незалежно від АГТ.

Консервативне лікування порушень метаболізму кісткової тканини у хворих на вітамін-D-залежний рахіт I типу

Мета: визначити вплив консервативної терапії на генетично зумовлені порушення метаболізму кісткової тканини у хворих на вітамін-D-залежний рахіт (ВDЗР) І типу. Матеріал і методи. На базі консультативно-поліклінічного відділу ДУ «Інститут травматології та ортопедії НАМНУ» було обстежено та проліковано 48 пацієнтів із діагнозом «вітамін-D-залежний рахіт І типу». Консервативне лікування пацієнтів з рахітоподібними захворюваннями проводилось в 4 етапи. Перший етап включав в себе повне обстеження пацієнта на кальцій, фосфор крові та сечі, визначення рівня кальцидіолу та кальцитріолу крові, показників паратиреоїдного гормона та остеокальцину, а також маркера кісткоутворення P1NP і остеорезорбції B-CTx. На першому етапі в обов’язковому порядку діти проходили генетичне дослідження для виявлення змін (поліморфізму) в алелях рецепторів до вітаміну D та колагену першого типу. Обстеження на наступних етапах проводилось в повному обсязі, окрім генетичних досліджень. Результати. Всебічне вивчення метаболізму вітаміну D і біохімічних показників життєдіяльності кісткової тканини у хворих на ВDЗР І типу дозволило впритул підійти до розуміння деяких питань патогенезу та сутності остеомаляційних і в подальшому остеопоротичних змін різного ступеня, об’єктивувати ці зміни у відповідних показниках біохімічного дослідження та залежно від змін розробити різні схеми медикаментозної корекції порушень кісткового обміну за даного захворювання. Висновки. Для медикаментозного лікування ВDЗР І типу альфакальцидол є препаратом вибору, бо має можливість трансформуватись печінкою в кальцитріол, обійшовши генетично пошкоджене ниркове 1α-гідроксилювання. На підставі вивчення біохімічних показників у пацієнтів з вітамін-D-залежним рахітом І типу розроблено патогенетично обґрунтовану ефективну медикаментозну терапію ортопедичних проявів, що включає холекальциферол (80 000 Од/міс) та альфакальцидол (7,5 мкг/міс). Запропоноване лікування дає значне покращення метаболізму кісткової тканини, що відображається в біохімічних і клінічних показниках вже після першого 3-місячного етапу лікування (p &lt; 0,05).