Abnormal Tissue Research Articles

АНАЛИЗ УРОВНЯ И СТРУКТУРЫ ПАТОЛОГИЧЕСКОЙ ПОРАЖЕННОСТИ ПОДРОСТКОВ РЕСПУБЛИКИ БЕЛАРУСЬ

Background. Assessment of the health indicators of adolescents, among which morbidity indicators occupy a leading place, makes it possible to determine the need of this age group for preventive measures, as well as to evaluate their effectiveness. Objective. To study the level and etiological structure of pathologies among adolescents residing in the Republic of Belarus. Material and methods. A sample of 1118 people aged 10-18 years was studied. The data was obtained by extracting information from primary medical documentation. Results. It was established that the prevalence of pathologies in the general group of adolescents is 1568.87 [1488.45; 1649.30] cases per 1000 people. The main factors aggravating the health status of adolescents are such classes of diseases and pathological conditions as eye diseases (in the vast majority, myopia), diseases of the musculoskeletal system and connective tissue (primarily postural disorders and flat feet), congenital malformations, deformations and chromosomal abnormalities (in 88.59% cases – congenital anomalies of the circulatory system), diseases of the digestive system (in a quarter of cases – gastritis, duodenitis). The main contributors to these pathologies are schoolrelated ones. It was revealed that less than 20% of 10-18-year-olds are absolutely healthy, almost 2/3 of the surveyed have risk factors for the development of diseases and almost one out of six has a chronic pathology in the compensation stage. Conclusions. The results obtained indicate the need to improve preventive measures aimed to minimize pathologies caused by learning, the need to introduce targeted prevention programs, as well as to improve medical and psychological-pedagogical support for students.

Quantitative analysis of malignant brain tumor on MRI images

Longitudinal relaxation time (T1)- weighted, Transverse relaxation time (T2)- weighted and flair Magetic Resonance Imaging (MRI) sequences are used for the study of high grade malignant brain tumors and their surrounding edemas. This study aimed to examine the characteristic of MRI on malignant brain tumor and to evaluate the benefits of Flair and T2 (Transverse relaxation time) -weighted over the T1(Longitudinal relaxation time) -weighted sequence. A total of 25 patients of malignant brain tumors were selected for analysis including 16 women aged 1 to 75 (mean age, 38.31 years) and 9 men aged 1 to 75 (mean age, 19.5 years). All patients had the T1- weighted, T2- weighted and Flair MRI sequences. A Region based segmentation of MATLAB software was performed on each type of tumor and 3D volume was calculated by spheroid volume tool of MATLAB. For all the patients tumor volume was calculated in cubic millimeter and compared with other sequences.The Flair and T2- weighted images volumes were significantly larger than the T1 – weighted image volume. There was also statistical difference of volume occurred in MRI sequences. T2- weighted and Flair MRI sequences showed 100% more volume than T1- weighted in the age group between 51 to 75 years. Similarly, both T2-weighted and Flair MRI sequence showed 61% volume more than T1-weighted in the age groups betrwen 26 to 75 years. Our findings suggest that the volume produced by these techniques are distinct and not interchangeable. Flair and T2-weighted images proved efficient for the measurement of abnormal tissues and CSF fluid in the brain. On the other hand T1-weighted images efficiently locate the tumor in fat and white matter of the brain.

Tailoring biodegradable elctrospun membrane for the potential treatment of periodontics: In vitro and in vivo evaluations

Polycaprolactone/Gelatin core-shell membranes were coaxially electrospun in different weight % to obtain dental membranes towards the treatment of Periodontics. Scanning electron microscopy study of the membranes indicated porous fibrous structure without any beads. GSNO was successfully synthesized and incorporated into the core of the resulted co-electrospun Polycaprolactone/Gelatin membrane imparting antibacterial property to the membrane. Chemical characteristics of the membranes were evaluated by FT-IR spectroscopy. In-vitro degradation studies conducted on the membrane showed a decrease in mass post 1 month followed by slow degradation for the next 2 months. By the end of the 3 months, the membranes began to tear off indicating non requirement of a surgical procedure to remove the membrane. Antibacterial property of the membrane was analysed using the disk diffusion method and showed a zone of inhibition of 0.7 cm as compared to the control membrane and the same was confirmed by the live dead assay. In vivo animal experimentations were conducted to prove the biocompatibility of the dental membrane. Skin irritation test conducted in rabbits show that the membrane does not cause hypersensitivity. Acute toxicity study conducted in rats followed by the histology analysis show that the internal organs are not affected by the membrane. Histology analysis of the tissue after subcutaneous implantation in rat model also showed no abnormal tissue reaction. Hence the membrane is found to be safe.

NAMPT enhances LOX expression and promotes metastasis in human chondrosarcoma cells by inhibiting miR-26b-5p synthesis.

Chondrosarcoma is a malignant bone tumor that emerges from abnormalities in cartilaginous tissue and is related with lung metastases. Nicotinamide phosphoribosyltransferase (NAMPT) is an adipocytokine reported to enhance tumor metastasis. Our results from clinical samples and the Gene Expression Omnibus data set reveal that NAMPT levels are markedly higher in chondrosarcoma patients than in normal individuals. NAMPT stimulation significantly increased lysyl oxidase (LOX) production in chondrosarcoma cells. Additionally, NAMPT increased LOX-dependent cell migration and invasion in chondrosarcoma by suppressing miR-26b-5p generation through the c-Src and Akt signaling pathways. Overexpression of NAMPT promoted chondrosarcoma metastasis to the lung in vivo. Furthermore, knockdown of LOX counteracted NAMPT-facilitated metastasis. Thus, the NAMPT/LOX axis presents a novel target for treating the metastasis of chondrosarcoma.

The Safety Assessment of Mutagenicity, Acute and Chronic Toxicity of the Litsea martabanica (Kurz) Hook.f. Water Leaf Extract.

Litsea martabanica (Kurz) Hook.f. has traditionally been used as an anti-insecticidal agent and as a medication due to its hepatoprotective properties by highland communities in Thailand. This study examined the mutagenicity, as well as the acute and chronic toxicity, of the L. martabanica water leaf extract in Sprague-Dawley rats. The pharmacognostic evaluation of L. martabanica was performed in this study to ensure its authenticity and purity. Then, the sample was extracted using decoction with water to obtain the crude water extract. The assessment of acute toxicity involved a single oral administration of 5000 mg/kg, whereas the chronic toxicity assessment comprised daily oral doses of 250, 750, and 2250 mg/kg over 270 days. Various physiological and behavioral parameters, as well as body and organ weights, were systematically monitored. The endpoint assessments involved hematological and biochemical analyses plus gross and histopathological assessments of the internal organs. Our results exhibited no mutagenic activation by the L. martabanica water leaf extract in the Ames test, and no acute toxicity was observed. In the chronic toxicity tests, no abnormalities were found in rats receiving the L. martabanica water leaf extract across multiple measures, comprising behavioral, physiological, and hematological indices. Crucially, the histopathological assessment corroborated previous studies, reporting an absence of any tissue abnormalities. The results revealed that the L. martabanica water leaf extract had no adverse effects on rats over 270 days of oral administration. This demonstrates its safety and crucial scientific evidence for informing public policy and enabling its potential future commercial use in both highland and lowland communities.

Onychocryptosis: a retrospective study of clinical aspects, inflammation treatment and pain management using Ozoile as a hydrogel and cream formulation.

Ingrown toenails account for roughly 20% of all foot problems in primary care. It is most common in young men, with nail care habits and footwear being major contributors. Onychocryptosis is typically caused by self-treatment attempts to cure the condition in its early stages. Its clinical features are frequently confused with other osseous and soft tissue abnormalities. The goal of this study was to provide perspectives on the management of pain and inflammation in Onychocryptosis using an Ozoile-based hydrogel formulation in a semi-occlusive bandage for 14 days, while incorporating natural pharmacological solutions into established protocols. The primary outcomes measured were pain reduction on NRS and stadiation according to the Al Kline Classification. The reduction was statistically significant, with a mean decrease in VAS score from 10 to 4 (p < 0.05), and Al Kline classification decreased by an average of 1.6 stages. 42% of patients recovered within the first 15 days of treatment, and 93% by the end of the scheduled treatment.

Improving Intraoperative Parathyroid Hormone Specimen Handling and Processing.

Surgeons request intraoperative parathyroid hormone (PTH) monitoring during parathyroidectomy procedures to confirm identification of abnormal gland tissue. Generally, a 50% decrease in the baseline PTH level indicates the abnormal tissue has been removed. A delay in collecting and processing PTH blood samples can complicate intraoperative decision making and prolong the procedure. The purpose of this quality improvement project was to develop tools to facilitate the specimen management process (eg, requesting, transporting, analyzing) for PTH blood samples and decrease the average total time required for transit and assay. We implemented a two-pronged initiative that involved improving the laboratory requisition form and creating a parathyroid tote box to contain all the needed information and supplies. The average total time for transit and assay decreased from 31.36 minutes before implementation to 22.06 minutes after implementation. Perioperative nurses expressed satisfaction with the changes and continue to use the revised process.

Physiological regulation of neuronal Wnt activity is essential for TDP-43 localization and function

Nuclear exclusion of the RNA- and DNA-binding protein TDP-43 can induce neurodegeneration in different diseases. Diverse processes have been implicated to influence TDP-43 mislocalization, including disrupted nucleocytoplasmic transport (NCT); however, the physiological pathways that normally ensure TDP-43 nuclear localization are unclear. The six-transmembrane enzyme glycerophosphodiester phosphodiesterase 2 (GDE2 or GDPD5) cleaves the glycosylphosphatidylinositol (GPI) anchor that tethers some proteins to the membrane. Here we show that GDE2 maintains TDP-43 nuclear localization by regulating the dynamics of canonical Wnt signaling. Ablation of GDE2 causes aberrantly sustained Wnt activation in adult neurons, which is sufficient to cause NCT deficits, nuclear pore abnormalities, and TDP-43 nuclear exclusion. Disruption of GDE2 coincides with TDP-43 abnormalities in postmortem tissue from patients with amyotrophic lateral sclerosis (ALS). Further, GDE2 deficits are evident in human neural cell models of ALS, which display erroneous Wnt activation that, when inhibited, increases mRNA levels of genes regulated by TDP-43. Our study identifies GDE2 as a critical physiological regulator of Wnt signaling in adult neurons and highlights Wnt pathway activation as an unappreciated mechanism contributing to nucleocytoplasmic transport and TDP-43 abnormalities in disease.

ZCCHC17 knockdown phenocopies Alzheimer's disease-related loss of synaptic proteins and hyperexcitability.

ZCCHC17 is a master regulator of synaptic gene expression and has recently been shown to play a role in splicing of neuronal mRNA. We previously showed that ZCCHC17 protein declines in Alzheimer's disease (AD) brain tissue before there is significant gliosis and neuronal loss, that ZCCHC17 loss partially replicates observed splicing abnormalities in AD brain tissue, and that maintenance of ZCCHC17 levels is predicted to support cognitive resilience in AD. Here, we assessed the functional consequences of reduced ZCCHC17 expression in primary cortical neuronal cultures using siRNA knockdown. Consistent with its previously identified role in synaptic gene expression, loss of ZCCHC17 led to loss of synaptic protein expression. Patch recording of neurons shows that ZCCHC17 loss significantly disrupted the excitation/inhibition balance of neurotransmission, and favored excitatory-dominant synaptic activity as measured by an increase in spontaneous excitatory post synaptic currents and action potential firing rate, and a decrease in spontaneous inhibitory post synaptic currents. These findings are consistent with the hyperexcitable phenotype seen in AD animal models and in patients. We are the first to assess the functional consequences of ZCCHC17 knockdown in neurons and conclude that ZCCHC17 loss partially phenocopies AD-related loss of synaptic proteins and hyperexcitability.

Microgripper Robot with End Electropermanent Magnet Collaborative Actuation.

Magnetic microgrippers, with their miniaturized size, flexible movement, untethered actuation, and programmable deformation, can perform tasks such as cell manipulation, targeted drug delivery, biopsy, and minimally invasive surgery in hard-to-reach regions. However, common external magnetic-field-driving devices suffer from low efficiency and utilization due to the significant size disparity with magnetic microgrippers. Here, we introduce a microgripper robot (MGR) driven by end electromagnetic and permanent magnet collaboration. The magnetic field generated by the microcoils can be amplified by the permanent magnets and the direction can be controlled by changing the current, allowing for precise control over the opening and closing of the magnetic microgripper and enhancing its operational range. Experimental results demonstrate that the MGR can be flexibly controlled in complex constrained environments and is highly adaptable for manipulating objects. Furthermore, the MGR can achieve planar and antigravity object grasping and transportation within complex simulated human cavity pathways. The MGR's grasping capabilities can also be extended to specialized tasks, such as circuit connection in confined spaces. The MGR combines the required safety and controllability for in vivo operations, making it suitable for potential clinical applications such as tumor or abnormal tissue sampling and surgical assistance.

A lesion‐aware automated processing framework for clinical stroke magnetic resonance imaging

AbstractMagnetic resonance imaging (MRI) and MRI based computational modelling studies provide insights into severity and recovery of ischemic stroke patients. The presence of brain lesions, however, can heavily distort and impair state‐of‐the‐art processing frameworks due to abnormal intensity values and tissue distortions. In this study, we introduce and validate the novel “Lesion Aware automated Processing Pipeline (LeAPP).” LeAPP automatically processes clinical stroke MRI data while significantly reducing the impact of pathological artefacts on processing outputs such as structural and functional connectomes (SC, FC). This helps to advance the identification of biomarkers for recovery and mechanism‐based intervention planning using MRI as well as computational approaches. We extended existing frameworks, such as the Human Connectome Project (HCP) minimal processing pipeline, introducing correction steps, and implementing and modifying functional and diffusion processing to cope with MRI acquisition protocols more typical for the clinical context. A total of 51 participants (36 patients, 15 age‐matched controls) were processed across four time points for patients (3–5, 30–40, 85–95, 340–380 days after stroke onset) and one time point for controls. We validated performance using artificial lesioned brains (N = 81), derived from healthy brains and informed by real stroke lesions. The quality of reconstructing the ground truth was quantified on whole brain level and for lesion affected and unaffected regions‐of‐interest (ROIs) for brain parcellations and for SCs. Volume based agreement was evaluated using metrics such as dice coefficient, volume difference or ROI center‐of‐gravity distance while SC based agreement was defined as the difference in network metrics (e.g., node strength, clustering coefficient, or centrality). The observed deviations in reconstructed ground truth brain parcellations and structural connectomes from lesioned brains were significantly reduced for LeAPP, compared to the performance of existing pipelines such as HCP minimal processing pipeline. For instance, in the case of lesion affected ROIS we achieved a mean dice coefficient (where a value of one represents total agreement as defined by an exact overlap of both ROIs) of 0.81 with LeAPP, compared to 0.75 for HCP (p &lt; .0001*). Additionally, the average measured ROI distance (where a value of zero represents no difference) for lesion ROIs was 0.87 for LeAPP in contrast to 1.7 for HCP (p &lt; .0001*), indicating an overall superior performance of LeAPP. The pipeline generates standardized output files ready for brain network modelling for instance with The Virtual Brain software. This novel open‐source automated processing framework contributes to reproducible research and provides a robust framework for automated processing of clinical stroke MRI data, supporting the identification of brain network‐based biomarkers of stroke recovery.

Unknown Case: Metastatic Breast Cancer With Abnormal Soft Tissue Mass in the Shoulder.

Unknown Case: Metastatic Breast Cancer With Abnormal Soft Tissue Mass in the Shoulder.

Rho-Associated Protein Kinase Activity Is Required for Tissue Homeostasis in the Xenopus laevis Ciliated Epithelium.

Lung epithelial development relies on the proper balance of cell proliferation and differentiation to maintain homeostasis. When this balance is disturbed, it can lead to diseases like cancer, where cells undergo hyperproliferation and then can undergo migration and metastasis. Lung cancer is one of the deadliest cancers, and even though there are a variety of therapeutic approaches, there are cases where treatment remains elusive. The rho-associated protein kinase (ROCK) has been thought to be an ideal molecular target due to its role in activating oncogenic signaling pathways. However, in a variety of cases, inhibition of ROCK has been shown to have the opposite outcome. Here, we show that ROCK inhibition with y-27632 causes abnormal epithelial tissue development in Xenopus laevis embryonic skin, which is an ideal model for studying lung cancer development. We found that treatment with y-27632 caused an increase in proliferation and the formation of ciliated epithelial outgrowths along the tail edge. Our results suggest that, in certain cases, ROCK inhibition can disturb tissue homeostasis. We anticipate that these findings could provide insight into possible mechanisms to overcome instances when ROCK inhibition results in heightened proliferation. Also, these findings are significant because y-27632 is a common pharmacological inhibitor used to study ROCK signaling, so it is important to know that in certain in vivo developmental models and conditions, this treatment can enhance proliferation rather than lead to cell cycle suppression.

Harmonizing Motherhood: Navigating Pregnancy Outcomes in Connective Tissue Disorders.

Background Connective tissue disorders encompass a diverse array of autoimmune and hereditary conditions, including systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), and antiphospholipid antibody syndrome. These disorders present unique challenges during pregnancy due to their complex pathophysiology and potential complications. Understanding their impact on pregnancy outcomes is vital for optimizing maternal and fetal health. Objective To investigate the burden, complications, maternal and fetal outcomes, and prognosis of connective tissue disorders in pregnancy. Methods The study was conducted over one year and six months at Saveetha Medical College and Hospital, Chennai, India, involving 45 pregnant women diagnosed with connective tissue disorders. Standard antenatal investigations were conducted, and participants were monitored throughout the antenatal period. Maternal and fetal outcomes were meticulously evaluated. Results Baseline characteristics revealed a heterogeneous distribution of age and parity among participants, reflecting the diverse nature of connective tissue disorders in pregnancy. Maternal medical outcomes, such as gestational hypertension (GHTN) and gestational diabetes mellitus (GDM), were prevalent, highlighting the necessity of close monitoring. Obstetric outcomes included spontaneous abortion and preterm delivery, indicating elevated risks in this population. Fetal outcomes, including fetal growth restriction and admission to the neonatal intensive care unit, underscored the impact of these disorders on fetal health. Conclusion This study examines pregnant connective tissue disorder burden, complications, maternal and fetal outcomes, and prognosis. The complicated relationship between these illnesses, and pregnancy requires specialist care and close monitoring. The participants' baseline features represent connective tissue condition heterogeneity, affecting clinical practice. Among the study subjects, 40% had RA and 20% had SLE, the most common connective tissue illness. Adverse maternal medical outcomes, like GHTN (27.27% of antiphospholipid syndrome (APS) patients and 22.22% of SLE patients) and GDM (18.18% of APS patients and 11.11% of SLE patients), highlight the need for close maternal health monitoring and management during pregnancy. Overall, this study sheds light on connective tissue abnormalities and pregnancy outcomes. Healthcare providers can improve reproductive health and well-being for various illnesses by knowing these relationships.

Fecal microbiota transplantation provides insights into the consequences of transcriptome profiles and cell energy in response to circadian misalignment of chickens

The circadian misalignment (CM) disordered circadian rhythms exert adverse effects on animals. Poultry as one of animals suffers health and welfare problems due to long-term lighting photoperiods caused by CM. However, the roles of CM on organ development, cell growth, metabolism and immune are still unclear in chickens. In this study, a Chinese dual-purpose native breed, was used to explore the effects of CM on transcriptomic pattern of brain and cell energy biogenesis, and further fecal microbiota transplantation (FMT) was applied to investigate its "therapy" effect from CM suffering. Our results showed that the CM led to stunting in brain and small intestine of chicken. CM decreased of cell proliferation, and energy production, mtDNA copies and expression of genes related to cell cycle or mitochondrial biogenetics, while it upregulated the reactive oxygen species (ROS) level and the sensitivity to inflammation. Interestingly, FMT rescued the organ developmental defects and cell dysfunctions induced by CM. Circadian misalignment brought about abnormal tissue and cell developments, energy biogenesis, and immune response in birds. This study provided a comprehensive perspective on understanding the regulation of CM and FMT on bird development and welfare.

Pendidikan dan Pelatihan tentang Pengaruh Gizi Seimbang Terhadap Kesehatan Umum dan Rongga Mulut Tim Penggerak PKK Cideng Jakarta Pusat

Nutrition has an important role during the growth and development of children in general, especially in the oral cavity. Children who are malnourished can cause abnormalities in the hard tissue of the teeth and periodontal. Abnormalities in the oral cavity can disrupt masticatory function, which can affect food intake. Parental knowledge is important in choosing food for the family, because it can affect the nutritional status of children and their families. This Community Service (PkM) were attended by 36 participants from the PKK mobilization team, Cideng, Central Jakarta. The materials provided are the effect of balanced nutrition on general health, the effect of nutrition on the tooth supporting tissue, the impact and prevention of poor dental health and good oral health care in power points, videos and posters. The results of the PkM training were evaluated by a pre-post test using a google form. The evaluation results showed an increase in participants' knowledge scores from an average pre-test score of 45.78 to an average post-test score of 82.19. It is hoped that this PkM activity can increase the knowledge of the PKK mobilization team, so that in the future they can provide education to the public regarding the influence of balanced nutrition on general health and the oral cavity as well as how to maintain oral health.

A Minimally Invasive Robotic Tissue Palpation Device.

Robot-assisted minimally invasive surgery remains limited by the absence of haptic feedback, which surgeons routinely rely on to assess tissue stiffness. This limitation hinders surgeons' ability to identify and treat abnormal tissues, such as tumors, during robotic surgery. To address this challenge, we developed a robotic tissue palpation device capable of rapidly and non-invasively quantifying the stiffness of soft tissues, allowing surgeons to make objective and data-driven decisions during minimally invasive procedures. We evaluated the effectiveness of our device by measuring the stiffness of phantoms as well as lung, heart, liver, and skin tissues obtained from both rats and swine. Results demonstrated that our device can accurately determine tissue stiffness and identify tumor mimics. Specifically, in swine lung, we determined elastic modulus (E) values of 9.1 ± 2.3, 16.8 ± 1.8, and 26.0 ± 3.6 kPa under different internal pressure of the lungs (PIP) of 2, 25, and 45 cmH2O, respectively. Using our device, we successfully located a 2-cm tumor mimic embedded at a depth of 5 mm in the lung subpleural region. Additionally, we measured E values of 33.0 ± 5.4, 19.2 ± 2.2, 33.5 ± 8.2, and 22.6 ± 6.0 kPa for swine heart, liver, abdominal skin, and muscle, respectively, which closely matched existing literature data. Results suggest that our robotic palpation device can be utilized during surgery, either as a stand-alone or additional tool integrated into existing robotic surgical systems, to enhance treatment outcomes by enabling accurate intraoperative identification of abnormal tissue.

MALAT1 Knockdown Inhibits the Proliferation, Migration, and Collagen Deposition of Human Hypertrophic Scar Fibroblasts via Targeting miR-29a-3p/Smurf2 Axis.

Hypertrophic scarring (HS) is commonly described as an abnormal post-traumatic tissue repair characterized by excessive hypercellularity and extracellular matrix (ECM) deposition. Mounting evidence suggests that MALAT1 is maladjusted in many fibrotic diseases, but its contribution to HS progression remains poorly understood. Hence, we sought to elucidate the fundamental role of MALAT1 in HS. The expression of MALAT1, miR-29a-3p, and Smurf2 in skin tissues and fibroblasts was assessed by RT-qPCR and Western blotting. Furthermore, lentiviruses, RNAi, or plasmids were utilized to transfect hypertrophic scar fibroblasts (HSFs) for gene overexpression or downregulation. The biological behaviors of HSFs were quantified by the CCK-8 assay, wound healing assay, transwell assay, and flow cytometry. Mechanistically, bioinformatics analysis, dual-luciferase reporter assays, and rescue experiments were performed to verify the relationship between miR-29a-3p and MALAT1 or Smurf2. Our data indicate that MALAT1, Smurf2 were overexpressed while miR-29a-3p was suppressed in HS tissues and fibroblasts. Downregulation of MALAT1 may lead to decreased proliferation, migration, and invasion of fibroblasts, accompanied by enhanced apoptosis, reduced TGF-β signal transduction, and ECM accumulation in HSFs, by enhancing miR-29a-3p and suppressing Smurf2 expression. Mechanistically, MALAT1 acted as a sponge for miR-29a-3p, while miR-29a-3p directly targeted Smurf2. More importantly, rescue experiments suggested that MALAT1 downregulation induced impact on the proliferation, migration, and invasion of HSFs could be partially overturned through miR-29a-3p knockdown or Smurf2 overexpression. MALAT1 knockdown inhibits the proliferation, migration, invasion, and collagen deposition of HSFs via targeting the miR-29a-3p/Smurf2 axis, which may reveal a promising therapeutic exploitable vulnerability to HS.

Melorheostosis (Leri's Disease): A Review.

Melorheostosis is a noncancerous bone disease characterized by abnormal bone and soft tissue growth. Despite being identified almost a century ago, there are still many unknown aspects surrounding this condition. It can often be an incidental discovery, with patients experiencing associated pain and deformities. Diagnosis typically relies on X-rays, although not all cases exhibit the classic candle wax appearance. A new imaging sign known as the "dumpling on a plate sign" has been proposed for flat bones for both MRI and CT scans. A biopsy may be necessary in cases of uncertainty, as there is not a definitive histological feature. It is not uncommon for melorheostosis to be linked with other conditions, and a collaborative approach involving a multidisciplinary team should be considered. This condition should be considered in the differential diagnosis of sclerotic bone conditions. Management is generally aimed at symptom relief, either through conservative measures or surgical intervention.

Primary disease of adipose tissue: When to think about and how to evaluate it in clinical practice?

Primary diseases of adipose tissue are rare disorders resulting from impairments in the physiological functions of adipose tissue (lipid stockage and endocrine function). It mainly refers to lipodystrophy syndromes with subcutaneous adipose tissue atrophy and/or altered body distribution of adipose tissue leading to insulin resistance, diabetes, hepatic steatosis, dyslipidemia, cardiovascular complications and polycystic ovary syndrome in women. Those syndromes are congenital or acquired, and lipoatrophy is partial or generalized. The diagnosis of lipodystrophy syndromes is often unrecognized, delayed and/or inaccurate, while it is of major importance to adapt investigations to search for specific comorbidities, in particular cardiovascular involvement, and set up multidisciplinary care, and in some cases specific treatment. Physicians have to recognize the clinical and biological elements allowing to establish the diagnosis. Lipodystrophic syndromes should be considered, notably, in patients with diabetes at a young age, with a normal or low BMI, negative pancreatic autoantibodies, presenting clinical signs of lipodystrophy and insulin resistance (acanthosis nigricans, hyperandrogenism, hepatic steatosis, high insulin doses). The association of diabetes and a family history of severe and/or early cardiovascular disease (coronary atherosclerosis, cardiomyopathy with rhythm and/or conduction disorders) may reveal Dunnigan syndrome, the most frequent form of familial lipodystrophy, due to LMNA pathogenic variants. Clinical assessment is primarily done through clinical examination: acanthosis nigricans, abnormal adipose tissue distribution, lipoatrophy, muscular hypertrophy, acromegaloid or Cushingoid features, lipomas, highly visible subcutaneous veins, may be revealing signs. The amount of circulating adipokines may reflect of adipose dysfunction with low leptinemia and adiponectinemia. Other biological metabolic parameters (hypertriglyceridemia, hyperinsulinemia, increased glycemia and hepatic enzymes) may also represent markers of insulin resistance. Quantification of total body fat by impedancemetry or dual-photon X-ray absorptiometry (DEXA) reveals decreased total body mass, in correlation with adipose tissue atrophy; metabolic magnetic resonance imaging can also quantify intraperitoneal and abdominal fat and the degree of hepatic steatosis. Histological analysis of adipose tissue showing structural abnormalities should be reserved for clinical research. Acquired lipodystrophic syndromes most often lead to similar clinical phenotype as congenital syndromes with generalized or partial lipoatrophy. The most frequent causes are old anti-HIV therapy or glucocorticoid treatments. Family history, history of treatments and clinical examination, including a careful physical examination, are keys for diagnosis.