Low Tension Research Articles

Electrocution Related Deaths in Catchment Area of East Point Hospital: A 3-Year Retrospective Study

The present retrospective study has been carried out to find the occurrence of deaths due to electrocution inEastern part of Bengaluru with special emphasis on finding out the conditions along with pattern of injuriessustained by the victims. Medico legal autopsy cases with history of electrocution over period of three yearsbetween January 2019 to December 2021 were included in this study. A total of 799 cases were autopsied at our Institute during that period, out of which 51 deaths (6.38%) were deaths due to electrocution, in which male’s outnumbered females. The highest number of cases were observed in the age group of 21-30 years (n=18, 35.3%).27 victims (52.9%) were electrocuted by low tensions domestic supply. Majority of the victims (n=31, 60.8%) died on the spot. Most cases (n=38, 74.5%) were reported during the daytime between 7 am and 7 pm. The incidence of deaths during rainy season were typically higher (n=29, 56.9%). Limbs were the most common body parts affected by electrocution (n=27, 52.9%). 37 (72.5%) victims were electrocuted in dry conditions according to the surrounding places of incidence. As per police documents and history by relatives all cases of the electrocution deaths in the present series were accidental in nature.The hazard of getting electrocuted in domestic surroundings from the chaotically connected electric wires without correct maintenance is certainly a matter of worry. Implementation of correct insulation safety procedures are important factors required for prevention of fatal electrocution.

Zipper-Like Linker Self-Assembly to Obtain Low Interfacial Tensions with Partially Neutralized Naphthenic Acids

Zipper-Like Linker Self-Assembly to Obtain Low Interfacial Tensions with Partially Neutralized Naphthenic Acids

What are optimum cycles for immediate primary closure of large cutaneous defects?

In the reconstruction of large complex cutaneous wounds, a myriad of mechanical devices has been designed to facilitate primary wound closure. However, there is a dearth of studies elucidating how best to achieve optimum use and efficiency of skin stretching (SS) when using the device for immediate primary closure of defects. Skin defect wounds (7 × 7 cm) were prepared on the back of three Bama miniature pigs. A total of 15 cycles of SS (cycle loading) were subsequently performed on the skin edges of the wound by EASApprox® SS system. Then, the changes in equidistant points were recorded after each cycle. After the SS test, all wounds were sutured under low tension. Skin elongation was observed at all equidistant points on the back wounds of three Bama miniature pigs. Up to an additional 1.10 to 3.75 cm of tissue was garnered. The maximum skin elongation was typically achieved within eight cycles of stretching and relaxation. Beyond this range, additional stretching cycles did not result in further skin extension. There may be a close link between mobilization range and the times of acute cyclic stretching (cycle loading) during the process of primary wound closure. However, larger studies are required to further evaluate the accuracy and effectiveness.

FACILITATING ANXIETY AS A POSITIVE TENSION IN LANGUAGE LEARNING CONTEXTS

Facilitating Anxiety as a Positive Tension in Language Learning Contexts Anxiety is generally identified as a normal human fear or uneasiness about certain states of matters such as starting a certain activity, job, test, etc. It is also one of the psychological drives that play an influential role in the context of teaching and learning a foreign language, the thing with which we concern ourselves in this present study. However, anxiety can be either a facilitating factor of learning if derives a learner to exert the required effort to learn the target language. Hence, this type of anxiety is facilitating. On the other hand, anxiety can be a debilitating factor of learning, when a learner's worriedness is higher than the other facilitating factors; therefore, this debilitating anxiety will be as a negative factor in the experience of learning the intended target language. This paper is a quantitative analysis of the influence of the facilitating anxiety, which we term as a low tension in this study, in the teaching and learning of a language. First we set up the theoretical framework, and the review of the related literature on which this study is designed, then its importance, the methodological procedures and methods of data collection, analyses, the main findings, suggestions and recommendations for future replicable studies.

Oil and Organic Liquids Incorporation into Fresh Geopolymer Pastes Using Suitable Quaternary Ammonium Surfactants.

The direct incorporation of low viscosity organic liquids (OL) such as dodecane and tributylphosphate (TBP) into fresh geopolymers (GP) is difficult and generally leads to variable amounts of un-incorporated OL remaining outside the hardened geopolymer. Experimentally, it is observed that a regular torque increase during OL incorporation corresponds to a suitable dispersion of the OL in the form of fine micrometric droplets. This can be obtained for TBP and dodecane by adding a small quantity of quaternary ammoniums salts (QAs) such as cetyltrimethylammonium bromide (CTAB). Shorter alkyl chains QAs, such as hexamethyltrimethylammonium (HMTA) can also be used but with a reduced efficiency. The positive impact of CTAB is then confirmed by the Washburn capillary rise method, showing that the interactions between TBP and CTAB-modified metakaolin are weaker compared to untreated powder. Finally, it is observed that the incorporation of TBP into geopolymer slurries is much easier than the incorporation of dodecane. The low interfacial tension measured between TBP and the activating solution (around 8 mN·m -1 ), contrasting with dodecane (29 mN·m -1 ), explains that the dispersion of TBP droplets in fresh metakaolin suspensions is more efficient.

Exploring the potential of all-aqueous immiscible systems for preparing complex biomaterials and cellular constructs.

All-aqueous immiscible systems derived from liquid-liquid phase separation of incompatible hydrophilic agents such as polymers and salts have found increasing interest in the biomedical and tissue engineering fields in the last few years. The unique characteristics of aqueous interfaces, namely their low interfacial tension and elevated permeability, as well as the non-toxic environment and high water content of the immiscible phases, confer to these systems optimal qualities for the development of biomaterials such as hydrogels and soft membranes, as well as for the preparation of in vitro tissues derived from cellular assembly. Here, we overview the main properties of these systems and present a critical review of recent strategies that have been used for the development of biomaterials with increased levels of complexity using all-aqueous immiscible phases and interfaces, and their potential as cell-confining environments for micropatterning approaches and the bioengineering of cell-rich structures. Importantly, due to the relatively recent emergence of these areas, several key design considerations are presented, in order to guide researchers in the field. Finally, the main present challenges, future directions, and adaptability to develop advanced materials with increased biomimicry and new potential applications are briefly evaluated.

Multifunction composite phase change material with inorganic flame retardant and organic form stability for improving battery thermal safety

<p>Phase change materials (PCMs) with superior cooling capacity and temperature equalization have great potential to mitigate thermal accumulation, benefiting the safety of electric vehicles (EVs) drivers. Although the composite phase change materials (CPCMs) with organic form stable addition can prevent leakage, they are still restricted in battery module due to easy flammable performance. Another challenge is that the inorganic flame retardants always distribute unevenly in organic CPCMs. Herein, to overcome the drawback of uneven additives dispersion within paraffin, we proposed a novel CPCM with inorganic flame-retardant and organic form stable material, composed of Paraffin/Styrene-Ethylene-Butylene-Styrene/AmmoniumPolyphosphate/Silicon dioxide/Carbon micro-nano aggregates (PS/APP/SiO<sub>2</sub>@C). The prepared material exhibits anti-leakage property with 99.5 % mass retention after heating for 10 h at 70 ��C, and the smoke generation rate is only 0.01 m<sup>2</sup>��s<sup>-1</sup>. The total heat releasing time is extended to 700 s, three times longer than that of PS. As for battery thermal management system, the maximum temperature and the temperature difference of battery module with PS/APP are 81.2 ��C and 5.6 ��C at 5 C discharge rate, respectively. In comparison, the maximum temperature and maximum temperature difference can be controlled to 58.5 ��C and 1.5 ��C, respectively, without heat accumulation during the twenty cycles. It indicates that the temperature is lower than the critical one to avoid thermal runaway of EVs. Therefore, this study presents CPCMs as an advanced thermal management approach that can enhance the thermal safety of battery packs, resulting in a significant impact on millions of drivers of EVs around the world.</p>

Bilateral rectus muscle turning-over for complicated and eventrated abdominal wall hernias: results of a novel method.

We present a technique for covering large midline loss of abdominal wall using a novel method by autologous tissues. Twenty-two patients (body mass index = 35,6 ± 6,9 kg/m2) were involved in the prospective cohort study. Acute and elective cases were included. The gap area was 450.1 ± 54 cm2. The average width of the midline gap was 16,3 ± 3,2 cm. The rectus muscles were mobilized from its posterior sheath. Both muscles were turned by180º medially, so that the complete abdominal wall gap could be covered without considerable tension. Changes in intra-abdominal pressure, quality of life and hernia recurrency were determined. There was no significant increase in the intra-abdominal pressure. Wound infection and seroma occurred in four cases. Bleeding occurred in one case. Pre- and post-operative quality of life index significantly improved (23 ± 13 vs. 47 ± 6; p = 0,0013). One recurrent hernia was registered. The procedure could be performed safely and yielded excellent results. The method was applied in acute cases. The intact anatomical structure of rectus muscles was essential. The midline reconstruction with bilateral turned-over rectus muscles provided low tension abdominal wall status, and it did not require synthetic mesh implantation.

The roles of FHL2 as a mechanotransducer for cellular functions in the mechanical environment.

The cell has multiple mechanisms for sensing and responding to dynamic changes in the mechanical environment. In the process, intracellular signaling is activated to modulate gene expression. Recent studies have shown that multifunctional signaling molecules that link intracellular force and gene expression are important for understanding cellular functions in the mechanical environment. This review discusses recent studies on one of the mechanotransducers, Four-and-a-half LIM domains 2 (FHL2), which localizes to focal adhesions (FAs), actin cytoskeleton, and nucleus. FHL2 localizes to FAs and the actin cytoskeleton in the cell on stiff substrate. In this situation, intracellular tension of F-actin by Myosin II is critical for FHL2 localization to FAs and actin stress fibers. In the case, a conserved phenylalanine in each LIM domain is responsible for its localization to F-actin. On the other hand, lower tension of F-actin in the cell on a soft substrate causes FHL2 to be released into the cytoplasm, resulting in its localization in the nucleus. At the molecular level, phosphorylation of specific tyrosine in FHL2 by FAK, non-receptor tyrosine kinase, is critical to nuclear localization. Finally, by binding to transcription factors, FHL2 modulates gene expression for cell proliferation as a transcriptional co-factor. Thus, FHL2 is involved in mechano-sensing and -transduction in the cell in a mechanical environment.

Assessing effects of diet alteration on selected parameters of chronically mentally ill residents of a 24-hour Nursing Home. Part 3: Effects of diet modification on selected health indicators.

The aim of the research was to check whether, and to what extent, dietary changes affect the selected indicators of health, including well-being. The study, lasting 3 years, included 52 chronically mentally ill people. Hand grip strength (HGS) measurements ‟before" and ‟after" feeding adjustments were performed using a SaehanTM pear dynamometer, blood pressure measurements were made using an Omron blood pressure monitor. Well-being was assessed using the UMACL Adjective Mood Scale. Based on the analysis of medical records, the study also included: the number of infections of the upper respiratory tract, the number of autoaggressive/aggressive behaviors and the frequency of stay of extremely offensive/agitated residents in the hospital. The dietary changes were reflected in the increased value of the hand grip strength (especially in women), lowered or normalized blood pressure to normal or recommended values, lowered tension arousal, accompanied by an increase in energetic arousal and hedonic tone (translating into improved well-being and mood), and a decrease in the number of episodes of aggression/self-aggression and associated hospitalizations. The dietary changes resulted in an improvement in the tested parameters as well as in reduction in the amount of food wasted by the residents. There was also a decrease in the number of catarrh of the upper respiratory tract, which reduced the overall number and quantity of prescribed drugs.

Impact of oxygen tension during in vitro maturation: a sibling-oocyte prospective double-blinded study

To determine whether oxygen (O2) tension (20% vs. 5%) has an impact on oocyte maturation rates and morphology during invitro maturation (IVM). A prospective, observational, monocentric, sibling-oocyte study. University Hospital. A total of 143 patients who underwent IVM for fertility preservation purposes from November 2016 to April 2021 were analyzed. Patients were included when ≥2 cumulus-oocyte complexes (COCs) were retrieved. The cohort of COCs obtained for each patient was randomly split into two groups: group 20% O2 and group 5% O2. Cumulus-oocyte complexes were incubated for 48 hours either under 5% O2 or 20% O2. After 24 and 48 hours of culture, every oocyte was assessed for maturity and morphology, to estimate oocyte quality. Morphology was evaluated considering six parameters (shape, size, ooplasm, perivitelline space, zona pellucida, and polar body characteristics), giving a total oocyte score ranging from -6 to +6. Maturation rates and total oocyte scores were compared using paired-sample analysis between group 20% O2 and group 5% O2. Patient median age was 31.4 [28.1-35.2] years-old. The mean serum antimüllerian hormone levels and antral follicle count were 3.2 ± 2.3 ng/mL and 27.2 ± 16.0 follicles, respectively. A mean of 10.7 COCs per cycle were retrieved, leading to 6.1 ± 2.4 metaphase II oocytes vitrified (total maturation rate = 57.3%; 991 metaphase II oocytes/1,728 COCs). A total of 864 COCs were included in each group. Oocyte maturation rates were not different between the two groups (group 20% O2: 56.82% vs. group 5% O2: 57.87%, respectively). Regarding oocyte morphology, the mean total oocyte score was significantly higher in group 5% O2 compared with group 20% O2 (3.44 ± 1.26 vs. 3.16 ± 1.32, P=.014). As culture under low O2 tension (5% O2) improves oocyte morphology IVM, our results suggest that culture under hypoxia should be standardized. Additional studies are warranted to assess the impact of O2 tension on oocyte maturation and the benefit of IVM under low O2 tension for embryo culture after utilization of frozen material.

Stabilization of emulsions prepared by ball milling and cellulase treated pomelo peel insoluble dietary fiber: Integrity of porous fiber structure dominates the stability

Emulsion gels from the pomelo peel insoluble dietary fiber (PIDF) were developed. The emulsification potentials of PIDFs subjected to various degrees of ball milling (M−PIDFs), cellulase hydrolysis (C-PIDF), and cellulase hydrolysis followed by ball milling (CM-PIDFs) were evaluated. Emulsions prepared by M−PIDFs for different lengths of ball milling time exhibited similar stability characteristics, confirming that M−PIDF emulsion stability might be determined by the three-dimensional structure formed by M−PIDF stacking and oil droplet capture. C-PIDF had characteristics resembling those of Pickering particles. CM-PIDF emulsions got destabilized with ball milling time prolongation. Interface tension and particle size of C/CM-PIDF decreased gradually during ball milling. Rheological and fluorescence microscopy results revealed that the intact internal crosslinking structure frameworks were disrupted in CM-PIDF emulsions. Therefore, intact fiber-based networks, rather than small particle size or low interfacial tension, determine the stability of PIDF emulsions. This study deepens the understanding of PIDF as a clean emulsifier.

Efficacy of mesenchymal stem cells cultured low oxygen tension ameliorates apoptotic inhibitors, viability, and differentiation of ovarian tissue: A study in a rat model with ovarian failure

Background Stem cell therapy shows applications potential for malnutrition-induced ovarian failure in rat models. However, it is ineffective because of the lack of viability and differentiation of transplanted stem cells, resulting in low adaptation and survival rates. We aimed to determine whether stem cells cultured under low oxygen (O2) tension improves the adaptability and viability of stem cells, as well as ovarian failure. Methods After four days of culturing mesenchymal stem cells (MSCs) in 21% oxygen (normoxia) as the T2 group and 1% oxygen (low O2 or hypoxia) as the T1 group, 200 million bone marrow-derived MSCs per rat were transplanted into female rats with ovarian failure (15 rats per treatment group). A total of 15 fertile and 15 infertile rats were categorized as the C+ and C− groups, respectively. Results The slight increase gradually in cells expressing HSP70 (C+, T2, T1, and C− groups were 0.5a±0.53, 1.7a±0.82, 6.2b±1.5, and 9.6c±1.3, respectively), decrease gradually in cells expressing caspase-3 as an apoptosis indicator (C+, T2, T1, and C− groups were 0.2a±0.42, 0.6a±0.52, 4.8b±1.03, and 7.3c±1.42, respectively), and increase gradually in cells expressing VEGF-1 (C+, T2, T1, and C− groups were 10.8c±1.55, 8.7b±0.48, 0.4a±0.52, and 0.2a±0.42, respectively) and GDF-9 (C+, T2, T1, and C− groups were 5.8c±1.47, 4.6b±0.97, 0.5a±0.53, and 0.3a±0.48, respectively) were used as markers for viability and differentiation in ovarian tissue, indicating that MSCs cultured under low O2 tension were more effective than those cultured under normoxic conditions as a treatment for female rats with ovarian failure. Furthermore, infertile female rats treated with MSCs cultivated under low O2 tension had an enhanced ovarian tissue shape, as indicated by the increasing Graafian follicle count gradually (C+, T2, T1, and C− groups were 8.9c±0.74, 4.5b±0.71, 0.5a±0.53, and 0.4a±0.52, respectively). Conclusions MSCs cultured under low O2 tension are an effective treatment for malnourished rats with ovarian failure.

High strain rate responses of some metals and alloys using a plate impact driven ring expansion test (PIDRET)

A plate impact driven ring expansion test (PIDRET) has been developed to investigate the high strain rate response of metals and alloys under radial expansion. Combining photonic Doppler velocimetry (PDV) probes and ultra-high-speed cameras, it allows for measuring the radial expansion velocity of the ring and for recording the different stages of the ring deformation until necking and ultimate fragmentation. Four metallic materials with different physical and mechanical properties are tested under the same loading conditions leading to strain rates around 104 s−1. The materials exhibit different responses in terms of deformation history and fracture. A comparison is made on (i) the postmortem microstructure and ductility between low strain rate tension loaded specimens and high-strain rate expansion loaded rings and (ii) numbers of necks and fragments between experimental results and theoretical estimations.

Microemulsions: a promising drug delivery system

Microemulsions, comprising oil, water and a surfactant, in association with some co-surfactant, are thermodynamically stable systems. They have found applications in a large number of chemical and pharmacological processes due to their unique properties such as large interfacial area, low interfacial tension, and most importantly, the ability to solubilize and deliver hydrophobic drugs. Microemulsions are ore, topical and parenteral administration. Microemulsions are thermodynamically stable. Microemulsions are clear, thermodynamically stable isotropic liquid mixtures of oil, water and surfactant, frequently in combination with a cosurfactant. This review highlights the properties and several recent developments in the use of microemulsions for medical treatment purposes including targeted drug delivery.

STEM-01. PLEXIN-B2 DRIVES CONFINED MIGRATION OF GLIOBLASTOMA STEM CELLS THROUGH MEMBRANE TENSION, ENDOCYTOSIS, AND MECHANO-ELECTRO REGULATION

Abstract Glioblastoma is a malignant brain tumor of uncontrolled proliferation and infiltration. GBM stem cells (GSCs) are constantly challenged by confined spaces during their migration through the brain parenchyma. Understanding the factors that drive GSC confined migration (CM) is thus critical for effective drug development. Using microchannel devices, we showed that GSCs are adept at squeezing through narrow constrictions at faster speed than through non-constricted spaces. During CM, cytoskeletal components and plasma membrane self-organize to establish polarity and propel the cell through the constrictions. Among the mechanical plasticity observed for meeting the challenges of CM the cells remodel their shape and plasma membrane through increased endocytosis. Rapid endocytosis of inner leaflet anionic phospholipids-such as PI(4,5)P2 and phosphatidylserine at the front of the cell collectively contribute to drive positive-charged actin filaments and calcium to the rear end of cells, abruptly leading to localized changes in membrane potential and propelling the cell. Correspondingly, inhibiting endocytosis abrogates polarity and results in failure to CM. These effects were recapitulated by deletion of the cell surface receptor Plexin-B2. Plexin-B2-CRISPR knockout (KO) GSCs displayed reduced capability to squeeze through constrictions in microchannel devices. Mechanistically, Plexin-B2 KO in GSCs compromised membrane dynamics and reduced endocytosis as consequence of low cell stiffness and membrane tension. Computational simulations demonstrated that membrane tension couples with cell stiffness in feedback loops and support the model that Plexin-B2 controls membrane tension through actomyosin contractility. On a molecular level, the locked extracellular ring domain of Plexin-B2 prevents GSCs to migrate through constrictions and recapitulates the defects associated with Plexin-B2 KO phenotype, indicating that ring bending is required for membrane tension. Thus, our results describe critical mechano-electro events necessary to establish polarity and prompt GSCs migration under confinement and provide a mechanism by which a single mechanosensor exert regulation at the cytoskeletal and membrane levels.

The Role of Political Leaders’ Emotions in Shaping International Rivalries: The Case of Former Bolivian President Evo Morales

Abstract This study applies the appraisal theory of emotions to explore how they influence leaders’ responses in the context of long-standing rivalries between states. It argues that policymakers’ emotions toward a rival country can help elucidate periods of higher and lower tensions in their bilateral relationship. Focusing on the Bolivian–Chilean rivalry, this study examines the case of Bolivia’s former president Evo Morales to shed light on the noticeable change in foreign policy toward Chile during two of his presidential terms. The findings reveal that Morales’s emotions were distinctly different during the period of cooperation or de-escalation compared to the period of escalation of tensions. The period of cooperation is characterized by strategies that promote contact, aligning with motive-consistent appraisals of events. Conversely, the period of escalation is marked by strategies that favor distance, stemming from motive-inconsistent appraisals.

Is elastic fantastic? The impact of elastic inserts on rein tension

Sustainable and ethical equitation requires clear signals and timely pressure-release. This study aimed to determine the effect of elastic inserts in reins on the tension applied for normal riding and a walk-to-halt transition, and the ability to release rein tension. Thirty female, regular riders, age 22 ± 3.87 years, participated in this study. The Centaur Rein Tension Gauge™▲ was fixed to a solid structure, and reins with elastic insert (elastic) or standard leather (rigid) were attached. Both measured 20 mm x 6 mm x 1500 mm and weighed 350 g. Rein tensions (N) were measured for left and right hands, both rein types when taking up a normal riding contact and executing a walk-to-halt transition using a cross-over design. Significantly lower tensions were exerted with elastic reins (3.33 ± 1.97N) than with rigid reins (5.83 ± 1.17N; F1,16 = 5.54; P < 0.05) in the normal riding contact condition, whilst higher tensions were evident with elastic reins (21.3 ± 6.19N) than rigid reins (15.8 ± 4.4N) in the walk-to-halt transition. The time (s) for rein tension return to zero following complete release from 25N was significantly greater, and less consistent, with elastic reins (t58 = 5.63; P < 0.001; 3.85 ± 3.22 seconds) than with rigid reins (0.53 ± 0.27 seconds). Although elastic inserts in reins result in less tension during general riding, they may be detrimental to the effective application of negative reinforcement and the ability to accurately reward required responses during training.

Influence of visceral fat on cardio-respiratory homeostasis depending on sex, age and presence of arterial hypertension

Introduction. The study of vegetative homeostasis requires the accounting of sensitive, non-invasive parameters of multidimensional ambulatory metabolic and cardiorespiratory monitoring, including bioimedansometry, heart rate variability (HRV) and respiratory function (RF).Aim. To determine concomitant changes in HRV, RF, depending on the level of visceral fat (VF) and the presence of arterial hypertension (AH), associated with gender, age to determine the targets of preventive effects.Materials and methods. 215 boys and girls aged 18 to 30 years and 93 men and women with hypertension aged 45 to 59 years underwent, bioimpedancometry, HRV monitoring using ten-minute recordings, and the study of respiratory function.Results and discussion. In young people with a BMI over 25 kg/m2, a high level of HF was associated with an increase in LF/ HF and SDANN values, which reflected a reduction in parasympathetic activity and an increase in sympathetic activity, as well as changes in RF with a decrease in the Tiffno index and maximum half-expiratory flow (MHF). In middle-aged individuals with AH and BMI exceeding 25 kg/m2, a direct correlation was found between the value of VF and age, waist circumference, diastolic blood pressure, with a higher stress index of cardiac rhythm regulation and more pronounced sympathetic activity in terms of the LF/HF parameter. A lower total HRV, low parasympathetic activity and tension in the regulation of the heart rhythm in persons with AH were detected even with an intermediate value of VF.Conclusions. The study of autonomic homeostasis required the accounting of the individual dynamics of the parameters of HRV and the RF even within normal values. Changes in HRV associated with an intermediate increase in VF should be monitored with an emphasis on SDANN, LF/HF, stress index and vegetative index, and changes in RF – with an emphasis on the Tiffno index and MHF.

Smith-Kingsmore syndrome with nystagmus as the initial symptom

BackgroundSmith-Kingsmore syndrome (SKS) is a rare autosomal dominant disorder caused by de novo mutations of gene MTOR in most cases and germline mosaicism in a few cases. The first case of SKS was reported in 2013. The incidence of SKS remains unknown. The clinical manifestations of SKS are diverse, and common features are macrocephaly, intellectual disability, and seizures. Some patients with SKS have special facial features.Case presentationThe case was a 5-month-old baby girl, who was admitted to the hospital for nystagmus, delayed development for 2 months, and intermittent convulsions for 2 days. The patient had a head circumference of 42 cm (+ 2SD), and showed facial deformity, low limb muscle tension, large areas of pigmentation, as well as mosaic patchy and strip-like pigment loss in her trunk and limbs. Meanwhile, her development was lagging behind peers. Physical examination did not reveal other abnormalities. She was diagnosed with SKS based on whole-exome sequencing combined with clinical symptoms and signs. She successively received treatment with adrenocorticotropic hormone, methylprednisolone sodium succinate, topiramate, levetiracetam, and zonisamide to reduce the number of convulsions in a short time, but drug resistance appeared thereafter. After combined treatment with multiple antiseizure medications, the patient still had seizures, but the amplitude of limb movement during the seizures was reduced compared to that before treatment.ConclusionsThis case expanded the phenotypic spectrum of SKS for diagnosis. We also review the related literature to promote the awareness, diagnosis, clinical management, and follow-up of SKS patients with MTOR mutations.