Syndrome Group Research Articles

RASopathies - what they reveal about RAS/MAPK signaling in skeletal muscle development.

RASopathies are rare developmental genetic syndromes caused by germline pathogenic variants in genes that encode components of the RAS/mitogen-activated protein kinase (MAPK) signal transduction pathway. Although the incidence of each RASopathy syndrome is rare, collectively, they represent one of the largest groups of multiple congenital anomaly syndromes and have severe developmental consequences. Here, we review our understanding of how RAS/MAPK dysregulation in RASopathies impacts skeletal muscle development and the importance of RAS/MAPK pathway regulation for embryonic myogenesis. We also discuss the complex interactions of this pathway with other intracellular signaling pathways in the regulation of skeletal muscle development and growth, and the opportunities that RASopathy animal models provide for exploring the use of pathway inhibitors, typically used for cancer treatment, to correct the unique skeletal myopathy caused by the dysregulation of this pathway.

Mechanisms involved in the regulation of mitochondrial quality control by PGAM5 in heart failure.

Heart failure (HF) refers to a group of clinical syndromes in which various heart diseases lead to the inability of cardiac output to meet the metabolic needs of the body's tissues. Cardiac metabolism requires enormous amounts of energy; thus, impaired myocardial energy metabolism is considered a key factor in the occurrence and development of HF. Mitochondria serve as the primary energy source for cardiomyocytes, and their regular functionality underpins healthy cardiac function. The mitochondrial quality control system is a crucial mechanism for regulating the functionality of cardiomyocytes, and any abnormality in this system can potentially impact the morphology and structure of mitochondria, as well as the energy metabolism of cardiomyocytes. Phosphoglycerate mutase 5 (PGAM5), a multifunctional protein, plays a key role in the regulation of mitochondrial quality control through multiple pathways. Therefore, abnormal PGAM5 function is closely related to mitochondrial damage. This article reviews the mechanism of PGAM5's involvement in the regulation of the mitochondrial quality control system in the occurrence and development of HF, thereby providing a theoretical basis for future in-depth research.

Venous Compressive Disorders

Venous compressive disorders are a heterogenous group of vascular syndromes characterized by extrinsic venous compression that can lead to complications of venous hypertension or venous thrombosis. Endovascular damage secondary to deep venous thrombosis (DVT) can result in post-thrombotic syndrome (PTS), a potentially debilitating condition that can be associated with significant morbidity in the pediatric population. Here we discuss 4 venous compressive disorders: iliac vein compression (May-Thurner syndrome [MTS]); subclavian vein compression at the venous thoracic inlet (Paget-Schroetter syndrome); left renal vein compression (nutcracker syndrome); and popliteal vein compression (popliteal entrapment syndrome) with a focus on clinical evaluation and diagnostic methods. Where endovascular therapy is appropriate, specific procedural considerations including procedure indications, equipment, procedural steps, technical challenges, complications, clinical follow-up and expected outcomes are discussed.

КЛИНИКО-ПАТОФИЗИОЛОГИЧЕСКИЕ АСПЕКТЫ МИКРОВЕЗИКУЛЯРНОГО СОСТАВА ПЕРИФЕРИЧЕСКОЙ КРОВИ У БЕРЕМЕННЫХ С ПРЕЭКЛАМПСИЕЙ

Abstract. Introduction. Preeclampsia is a pregnancy complication characterized by the development of arterial hypertension after 20 weeks of gestation, proteinuria, and/or oedemas. The pathogenesis of preeclampsia remains unclear to this day. Some studies have shown the importance of microvesicles in the pathogenesis of various pathological conditions. Involvement of microvesicles in the preeclampsia pathogenesis is a relevant issue. Taking into account all of the above, we have made an attempt to consider the pathogenesis of preeclampsia from the perspective of clinical and laboratory data. Aim. To establish the importance of microvesicles circulating in peripheral blood, their quantity and phenotype in the pathogenesis of preeclampsia. Materials and Methods. A one-stage cohort study was conducted, including 105 pregnant women: 30 pregnant women with severe preeclampsia (group 1), 35 pregnant women with mild preeclampsia (group 2), and 40 pregnant women without hypertensive syndrome (group 3), at 29–40 weeks of gestation. All patients were delivered surgically (Joel-Cohen laparotomy, cesarean section in the lower segment). All pregnant women underwent blood sampling to define the number and phenotypes of microvesicles (using flow cytometry) and laser scanning microscopy of the clot to confirm the presence of microvesicles of placental origin containing tissue factor, as well as the lipopolysaccharide of gram-negative microorganisms. Results and Discussion. In the group of patients with severe preeclampsia, a statistically significant increase was found in the number of placental, erythrocyte microvesicles, microvesicles with the tissue factor and lipopolysaccharide, compared to the group of patients with mild preeclampsia and pregnant women without hypertensive syndrome. In the group of patients with mild preeclampsia, a statistically significant increase was found in microvesicles with tissue factor and lipopolysaccharide, compared to pregnant women without hypertensive syndrome. The data obtained from the study confirm the fact that severe preeclampsia is a separate nosological entity, most likely pregnancy-associated thrombotic microangiopathy. Conclusions. The data obtained from the study indicate the need for further research to clarify the importance of microvesicles in the preeclampsia pathogenesis.

Preoperative Rank of Expectations for Shoulder Surgery (PRESS): a novel survey

Patient expectations for orthopedic surgeries, and elective shoulder surgery in particular, have been shown to be important for patient outcomes and satisfaction. Current surveys assessing patient expectations lack clinical applicability and allow patients to list multiple expectations at the highest level of importance. The purpose of this study was to develop and evaluate the use of a novel, rank-based survey assessing the relative importance of patient expectations for shoulder surgery. The Preoperative Rank of Expectations for Shoulder Surgery (PRESS) survey was developed by polling 100 patients regarding their expectations for surgery. The PRESS survey consisted of 8 common expectations for elective shoulder surgery by importance and a 0%-100% scale of expected pain relief and range of motion improvement. After initial development of the PRESS survey, it was administered preoperatively to 316 patients undergoing surgery for shoulder arthritis, rotator cuff tear, subacromial pain syndrome, or glenohumeral instability between August 2020 and April 2021. Patients also completed preoperative outcome measures such as the American Shoulder and Elbow Surgeons Standardized Shoulder Assessment Form, Patient-Reported Outcomes Measurement Information System (PROMIS) Upper Extremity Physical Function 7a version 1.0 (PROMIS PF), and PROMIS Pain Interference short form 8a version 2.0 (PROMIS PI) surveys. Patient-reported outcome measure (PROM) surveys were administered 6 months postoperatively. Improvement in range of motion was the expectation most often ranked first for the entire study group (18%), arthritis subgroup (23%), and rotator cuff tear subgroup (19%). Subacromial pain syndrome patients most often ranked improving ability to complete activities of daily living and relieving daytime pain first (19%). Shoulder instability patients most often ranked improving ability to participate in sports first (31%). Patients who ranked improving range of motion or sports highly had better PROMs. Those who ranked relieving pain highly had worse PROMs. Patients with high (>90%) expectations of pain relief had better PROMIS PI scores. Patients with high pain relief expectations in the arthritis and subacromial pain syndrome groups had better PROMs, whereas patients with instability were less satisfied. The novel PRESS survey assesses patient expectations for shoulder surgery in a new, more clinically applicable rank-based format. The responses provided by patients provide actionable information to clinicians and are related to postoperative outcomes. Therefore, the PRESS survey represents a useful tool for guiding discussions between patients and surgeons, as well as aiding in overall patient-centered clinical decision making.

The condition of newborns and the course of the early neonatal period in children from mothers who had complications from the group of great obstetric syndromes

The condition of newborns and the course of the early neonatal period in children from mothers who had complications from the group of great obstetric syndromes

Possible Role of Cytomegalovirus in Gastric Cancer Development and Recurrent Macrolide-Resistant Campylobacter jejuni Infection in Common Variable Immunodeficiency: A Case Report and Literature Discussion.

Common variable immunodeficiency (CVID) is the most common symptomatic immunodeficiency in adults. It comprises a group of syndromes whose etiology involves genetic, epigenetic, microbiota, and environmental factors. We present the case of a 46-year-old Caucasian male patient with CVID and an immune dysregulation phenotype. The particular elements of the case consisted of an atypical clinical course, which undoubtedly demonstrates the great variability of clinical manifestations that these types of patients can suffer from, including bacterial and viral infections, autoimmune phenomena, and neoplasia. Notably, the patient suffered from recurrent gastrointestinal infection with macrolide-resistant Campylobacter jejuni and gastroduodenal disease and viraemia by cytomegalovirus (CMV). In addition, CMV was postulated as the main pro-oncogenic factor contributing to the development of early-onset intestinal-type gastric adenocarcinoma, for which the patient underwent gastrectomy. The patient's evolution was difficult, but finally, as a result of the multidisciplinary approach, clinical stabilization and improvement in his quality of life were achieved. Based on our brief literature review, this is the first reported case of this clinical complexity. Our experience could help with the management of future patients with CVID and may also update current epidemiological data on CVID.

#1162 Paraneoplastic podocytopathy in patients with solid cancer: clinical characteristics and new insights into pathophysiological processes about 21 cases

Abstract Background and Aims Minimal change disease (MCD) and focal segmental glomerulosclerosis (FSGS) may occur in patients with solid cancer but this rare association has never been extensively investigated. Here, we report the first series of patients presenting this association, also named paraneoplastic podocytopathy with nephrotic syndrome (PPNS) . Previous study has demonstrated the specific induction in both podocytes and Reed-Sternberg cells of C-Maf Inducing Protein (CMIP) in patients with MCD and Hodgkin lymphoma. Here, we examined whether this molecular relationship was also relevant in patients developing PPNS in the setting of solid cancer. We have investigated the potential CMIP expression in kidney biopsies and in tumor tissues. Method We collected data from patients who presented with histologically proven cancer and concomitantly developed a nephrotic syndrome (± 3 months) related to MCD or FSGS Follow-up data were collected after 3, 6, 12 months and at last visit. We identified a control group of idiopathic nephrotic syndromes (INS) matched on sex, age and histological type, in order to compare the characteristics of these controls with patients with PPNS. Expression of CMIP was studied by immunohistochemistry and by immunofluorescence confocal microscopy on kidney biopsy and tumor samples. We used kidney biopsies from INS and tumors from patients without associated nephrotic syndrome as controls. Results Twenty-one PPNS patients and 21 controls with INS without cancer were identified. The median age of PPNS patients was higher (68 years) than usually observed in INS. Most of them (76%) had a MCD. A broad spectrum of cancers was found (bronchopulmonary, prostatic, colorectal…) . Baseline characteristics were similar between PPNS patients and INS controls, with a median urinary protein creatinine ratio of 865 and 900 mg/mmol, blood albumin t 15 and 15.3 g/L. Estimated glomerular filtration rate were 48 and 60 ml/min/1.73 m² respectively (no significant difference) . At presentation, PPNS patients were more likely to have hematuria (p = 0.031) , a lower median hemoglobin level than controls (p = 0.039) . Moreover, PPNS patients were less often treated with immunosuppressive drugs (p = 0.004) . After 12 months of follow-up, PPNS patients had a less favorable outcome than INS controls, with a mortality rate three times higher (30% vs 9.5%, p = 0.098) and a much lower rate of complete remission of nephrotic syndrome (25% vs 73.7%, p = 0.008, Table 1). CMIP labeling was performed on 13 tumor samples and 16 kidney biopsies in PPNS patients, and on 5 kidney biopsies with INS, and on 5 control tumor samples. Podocyte labeling of CMIP is observed on all but one kidney biopsy. CMIP labeling was positive on all case tumors, but only a scarce staining was detected in control patients with solid cancer without nephrotic syndrome (Fig. 1). In PPNS patients, confocal microscopy analysis on tumoral tissue showed high expression of CMIP in some epithelial cells and in immune infiltrating cells.. In addition, we found that CMIP was specifically express in CD4 T lymphocyte subset (Fig. 2), but not in CD20, FOXP3 or PD1 lymphocytes, defining a novel FOXP3−/PD1− CMIP high CD4+T lymphocyte subpopulation, within immune cell infiltrates. Conclusion We report the first series of patients with PPNS, who have a more severe renal and overall prognosis than controls. We show that patients with PPNS display higher induction of CMIP, both in the tumor and in podocytes. Strikingly, we identified within immune infiltrates a new subset of T-cell harboring a particular phenotype (CD4+, CMIPhigh, FOXP3−, PD1−) , which is not detected in patients with solid tumor without nephrotic syndrome and which could play a key role in the pathophysiology of PPNS.

Cyclogram-based evaluation of inter-limb gait symmetry in Prader-Willi Syndrome

BackgroundPrader-Willi syndrome (PWS) is characterized by a complex clinical condition, whose typical features lead to impaired motor and functional skills. To date, limited data is available as regards symmetry of gait in PWS. Research questionThe aim of this study was to characterize lower-limb asymmetry during gait in a group of Prader-Willi Syndrome (PWS) individuals by using the synchronized cyclograms and to compare it with those of two different control groups, a normal-weight group and an obese group. MethodsA total of 18 PWS, 30 normal weight (NW) and 28 obese individuals (OG) matched for age, sex and height were assessed via 3D gait analysis. Gait spatio-temporal parameters were computed together with angle-angle diagrams, characterized in terms of their geometric features (i.e. area, orientation, and trend symmetry index). ResultsIndividuals with PWS exhibit reduced speed, stride length and cadence and increased duration of both stance and double support phase than the other groups. OG was characterized by the same pattern when compared to NW. With respect to inter-limb symmetry, individuals with PWS exhibited significantly larger cyclogram areas at hip joint with respect to the other two groups (203.32 degrees2 vs. 130.73 degrees2 vs. 111.59 degrees2) and significantly higher orientation angle (4.17° vs. 2.11° vs. 1.22°) and Trend Symmetry (3.72 vs. 2.02 vs. 1.21) with respect to the other two groups at knee joint; no differences were found at ankle joint. Both individuals with PWS and those of OG exhibited reduced ROM at knee and ankle joints with respect with normal weight, but no statistically significant differences were observed between PWS and OG. SignificanceThe obtained results may provide novel and useful insights to understand better the impairments in motor control associated with this pathological state, supporting clinics in the identification of the best rehabilitation program for this rare pathological state, aimed to improve stability and motor control.

Attitudes toward uterus transplantation. An option for motherhood?

Uterus transplantation is a novel surgical procedure that allows women with absolute uterine factor infertility to carry a pregnancy and give birth. While previous studies have explored the attitudes of women with absolute uterine factor infertility toward uterus transplantation, none have surveyed and compare their views with other groups of interest (Morris syndrome women, relatives of Morris syndrome and Rokitansky syndrome women, infertile women and women of childbearing age) in the same sociocultural setting. The objective of this study was to evaluate attitudes and insights regarding uterus transplantation among women with Rokitansky syndrome and other groups of interest. We designed a cross-sectional study including five groups of women: women with Rokitansky syndrome, women with Morris syndrome, relatives of women with Morris and Rokitansky syndrome, infertile women, and childbearing-age women. We conducted an online survey through the REDCap platform. The link was distributed by mail, telephone and in hospital outpatient visits. Baseline demographic information was assessed and information regarding motherhood preferences, attitude toward uterus transplantation, preferred uterus graft and perception of risk of the procedure was collected. We obtained a total of 200 responses, with a mean participant age of 34.5 years (±9.8). Overall, 17.5% (n = 35) were women with Rokitansky syndrome, 5.5% (n = 11) Morris syndrome women, 21.5% (n = 43) infertile women, 26.5% (n = 53) relatives of Morris and Rokitansky syndrome women and 29% (n = 58) childbearing-age women. 71.5% of women with Rokitansky syndrome would undergo uterus transplantations ahead of adoption and surrogacy with no statistically significant differences found between groups. Overall, more than one-half (58%) would prefer deceased over living donor. The results of this survey indicate that uterus transplantation is desired by most women who would benefit from the procedure, including those with either Morris syndrome or absolute uterine factor infertility. This was also the preferred option for motherhood if absolute uterine factor infertility was diagnosed among surveyed infertility patients or women of childbearing age with no known reproductive difficulties. Overall, most respondents indicated a deceased donor was preferable to a living donor and that patients may not be sufficiently aware of potential risks of uterus transplantation, highlighting the importance of adequate counseling by medical providers.

Low T3 syndrome is associated with the severity of myelin oligodendrocyte glycoprotein antibody-associated disease exacerbation.

Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) is a rare autoimmune inflammatory disease of the central nervous system, (CNS) different from multiple sclerosis (MS) and neuromyelitis optica spectrum disorder (NMOSD). While numerous studies have delved into the involvement of thyroid antibodies (ATAbs) and thyroid function in NMOSD and MS. The objective of this study is to explore the clinical significance of thyroid dysfunction and ATAbs abnormalities in adult patients with MOGAD. 36 adult inpatients diagnosed with MOGAD and 47 sex- and age-matched healthy controls were enrolled. Patients were divided into two groups based on the presence or absence of low T3 syndrome. Demographics, clinical characteristics, and results of auxiliary examinations were compared across the subgroups. Moreover, an analysis was conducted to explore the correlations between thyroid hormone levels and Expanded Disability Status Scale (EDSS) scores. Thyroid dysfunction was notably more frequent in MOGAD patients than healthy controls (p < 0.0001), particularly low T3 syndrome (p=0.03). Furthermore, subgroup analyses revealed that the low T3 syndrome group exhibited higher EDSS scores and a higher proportion of individuals with EDSS scores > 3, in comparison to the non-low T3 syndrome group (p = 0.014, p = 0.046). However, no significant differences were observed in demographic characteristics, annual relapse rates, clinical phenotypes, laboratory and MRI results, and EEG abnormalities between the two groups. Additional Spearman's analysis showed significantly negative correlations between the TT3 and FT3 levels with EDSS scores (r = -0.367, p = 0.028; r = -0.377, p = 0.024). Typical brain lesions and paralateral ventricle lesions were significantly rare in patients with positive ATAbs compared to those with negative ATAbs (p = 0.0001, p = 0.03), although the incidence of ATAbs abnormalities did not differ significantly between MOGAD patients and healthy controls. Overall, this study confirmed thyroid dysfunction, especially low T3 syndrome, is frequent in adult MOGAD patients. Patients with low T3 syndrome exhibited elevated EDSS scores and a significantly higher incidence of unfavorable condition. additionally, the correlation analysis model manifests that FT3 and TT3 levels were negatively correlated with EDSS scores. These evidences indicate that low T3 syndrome is associated with the severity of MOGAD exacerbation.

ROLE OF NF-κB TRANSCRIPTION FACTOR ACTIVATION IN THE PROCESSES OF CONNECTIVE TISSUE COMPONENTS DEGRADATION IN SKELETAL MUSCLES UNDER METABOLIC SYNDROME

Connective tissue, encompassing both cellular and non-cellular elements, plays an important role in the progression of numerous pathological processes across various organs and tissues. Within skeletal muscle tissue, the extracellular matrix not only plays a structural and supporting function, but it is a complex multicomponent system that performs a number of regulatory functions. At present, the effect of activation of the transcription factor NF-κB on the quantitative and qualitative composition of the components of the extracellular matrix in skeletal muscles under metabolic syndrome development is insufficiently studied. The aim of this work is to study the effect of ammonium pyrrolidinedithiocarbamate on the concentration of glycosaminoglycans, the concentration of individual fractions of glycosaminoglycans, the content of free L-oxyproline and sialic acids in the biceps femoris muscle of rats under metabolic syndrome. The study was conducted on 24 male Wistar rats weighing 200-260 g, which were randomly divided into 4 groups of 6 animals each. The first was control; the second made up the metabolic syndrome modeling group. Metabolic syndrome was reproduced by adding a 20% fructose solution to the standard vivarium diet as the only source of drinking water. Metabolic syndrome was modelled for 60 days. The third group received ammonium pyrrolidinedithiocarbamate administration at a dose of 76 mg/kg intraperitoneally (i/p) three times a week for 60 days. The fourth group underwent combined treatment involving the administration of both ammonium pyrrolidinedithiocarbamate and metabolic syndrome modeling. In a 10% homogenate of the biceps femoris muscle, the total concentration of glycosaminoglycans, the concentration of the heparin-heparan fraction of glycosaminoglycans, the keratan-dermatan fraction of glycosaminoglycans, the chondroitin fraction of glycosaminoglycans, and the content of free L-oxyproline and sialic acids were assessed. The introduction of ammonium pyrrolidinedithiocarbamate under metabolic syndrome modelling led to a decrease in the total concentration of glycosaminoglycans by 9.2% compared to the metabolic syndrome group. Under these conditions, the concentration of the heparin-heparan fraction increased by 121.1%, the keratan-dermatan fraction decreased by 32.8%, and the concentration of the chondroitin fraction decreased by 38.7% compared to the metabolic syndrome group. The concentration of free L-oxyproline and sialic acids in the biceps femoris muscle decreased by 19.8% and 24.4%, respectively, compared to the metabolic syndrome group. Blockade of activation of the transcription factor NF-κB by intraperitoneal administration of ammonium pyrrolidinedithiocarbamate against the background of metabolic syndrome modelling leads to a decrease in the depolymerization of glycoproteins and proteoglycans, reduces the intensity of collagenolysis and leads to a redistribution of concentrations of individual fractions of glycosaminoglycans, characterized by an increase in the content of the heparin-heparan fraction and a decrease in chondroitin and keratan-dermatan fractions in the biceps femoris muscle of rats.

Paroxysmal sympathetic hyperexcitability after brain injury: A clinical analysis of case series.

Paroxysmal sympathetic hyperexcitability (PSH) is a group of complex syndromes with various etiologies. Previous studies were limited to the description of traumatic brain injury (TBI), and the description of PSH after other types of brain injury was rare. We explored the clinical features, treatment, and prognosis of PSH after various types of brain injuries. Patients admitted to the neurosurgery intensive care unit with PSH after brain injury from July 2019 to December 2022 were included. Demographic data, clinical manifestations, drug therapy, and disease prognosis were retrospectively collected and analyzed. Fifteen male and 9 female patients with PSH after brain injury were selected. TBI was most likely to cause PSH (66.7%), followed by spontaneous intracerebral hemorrhage (25%). Glasgow coma scale scores of 19 patients (79.2%) were lower than 8 and 14 patients (58.3%) underwent tracheotomy. Electroencephalogram monitoring was performed in 12 individuals, none of which showed epileptic waves. Clinical symptom scale showed mild symptoms in 17 cases (70.8%). Almost all patients were administered a combination of drugs. After follow-up, most patients had a poor prognosis and 2 (8.3%) died after discharge. The etiology of PSH is complex. TBI may be the most common cause of PSH. Non-TBI may also be an important cause of PSH. Therefore, early identification, prevention and diagnosis are helpful for determining the prognosis and outcome of the disease.

Apert syndrome: modern aspects of diagnosis and treatment

The purpose of this review is to raise awareness of medical professionals about the features of the clinical picture, the possibilities of diagnosis (including prenatal) and therapy of patients with Apert syndrome to further improve the prognosis and improve the quality of life. Acrocephalosyndactyly is a group of rare congenital syndromes characterized by the presence of acrocephaly, craniofacial anomalies, syndactyly of the hands and feet. According to the literature, the most common form of аcrocephalosyndactyly is Apert syndrome (acrocephalosyndactyly type I, Apert syndrome, ICD 10 Q 87.0, OMIM 101200). This is a genetic disease inherited by an autosomal dominant type. CA is caused by a mutation of the fibroblast growth factor receptor type 2 gene (FGFR2) located on the long arm of chromosome 10, which leads to increased bone metabolism and impaired bone synthesis. The frequency of Apert syndrome is about 15 cases per 1,000,000 live births. Wheaton first reported this pathology in 1894, and in 1906 the French pediatrician Eugene Apert published a series of nine clinical cases with a characteristic triad of symptoms. Apert syndrome is characterized by craniosynostosis, bilateral symmetrical limb syndactyly and dysmorphic facial features. Hypoplasia of the upper jaw and bicoronal synostosis are two noticeable craniofacial defects that lead to a flat, deepened appearance of the forehead and the middle part of the face. Hypertelorism and excessive orbitality, low-set ears, flat nose and cleft palate are often found. Cardiovascular, neurological and genitourinary abnormalities may be present. Diagnosis is based on clinical criteria and molecular genetic testing. There is a possibility of prenatal detection of Apert syndrome.

Incidence and Impact of Takotsubo Syndrome in Hospitalized Patients With COVID-19.

Takotsubo syndrome has been reported in patients with COVID-19, although minimal data are available. This investigation assessed the incidence and impact of takotsubo syndrome on patients hospitalized with COVID-19. A retrospective cohort study was conducted using International Statistical Classification of Diseases, Tenth Revision, codes to identify patients with a primary diagnosis of COVID-19 with or without takotsubo syndrome in the National Inpatient Sample 2020 database. Outcomes between groups were compared after propensity score matching for patient and hospital demographics and comorbidities. A total of 211,448 patients with a primary diagnosis of COVID-19 were identified. Of these, 171 (0.08%) had a secondary diagnosis of takotsubo syndrome. Before matching, patients with COVID-19 and takotsubo syndrome, compared with patients without takotsubo syndrome, were older (68.95 vs 64.26 years; P < .001); more likely to be female (64.3% vs 47.2%; P < .001); and more likely to have anxiety (24.6% vs 12.8%; P < .001), depression (17.5% vs 11.4%; P = .02), and chronic obstructive pulmonary disease (24.6% vs 14.7%; P < .001). The takotsubo syndrome group had worse outcomes than the non-takotsubo syndrome group for death (30.4% vs 11.1%), cardiac arrest (7.6% vs 2.1%), cardiogenic shock (12.9% vs 0.4%), length of hospital stay (10.7 vs 7.5 days), and total charges ($152,685 vs $78,468) (all P < .001). After matching and compared with the non-takotsubo syndrome group (n = 508), the takotsubo syndrome group (n = 170) had a higher incidence of inpatient mortality (30% vs 14%; P < .001), cardiac arrest (7.6% vs 2.8%; P = .009), and cardiogenic shock (12.4% vs 0.4%; P < .001); a longer hospital stay (10.7 vs 7.6 days; P < .001); and higher total charges ($152,943 vs $79,523; P < .001). Takotsubo syndrome is a rare but severe in-hospital complication in patients with COVID-19.

Coffee consumption might be associated with lower potential risk and severity of metabolic syndrome: national health and nutrition examination survey 2003-2018.

Metabolic syndrome (MetS) is a clinical syndrome characterized by multiple metabolic disorders and is a serious global health problem. The coffee effect, acting as one of the most prevalent beverages on metabolic syndrome, is debatable. We included patients from the National Health and Nutrition Examination Survey 2003-2018 and used a comprehensive evaluation called the MetS z-score to assess the severity of metabolic syndrome. The relationship between coffee, decaffeinated coffee, tea, and MetS z-scores was explored using a weighted linear regression. We also divided the participants into metabolic and non-metabolic syndrome groups according to the NCEP/ATP III criteria for the subgroup analysis. A total of 14,504 participants were included in this study. The results demonstrated that drinking more than three cups of coffee daily was significantly linked to lower MetS z-scores (p < 0.001). Daily coffee consumption was also associated with lower BMI (p = 0.02), systolic blood pressure (p < 0.001), Homeostatic Model Assessment for Insulin Resistance (p < 0.001), and triglycerides (p < 0.001), while it was positively correlated with HDL-C (p = 0.001). Participants who consumed more than three cups of coffee daily had a lower MetS z-score in the MetS (p < 0.001) and non-MetS (p = 0.04) groups. This research indicates that coffee consumption is linked to MetS severity. However, decaffeinated coffee and tea intake were unrelated to MetS severity.

RASopathies for Radiologists.

RASopathies are a heterogeneous group of genetic syndromes caused by germline mutations in a group of genes that encode components or regulators of the Ras/mitogen-activated protein kinase (MAPK) signaling pathway. RASopathies include neurofibromatosis type 1, Legius syndrome, Noonan syndrome, Costello syndrome, cardiofaciocutaneous syndrome, central conducting lymphatic anomaly, and capillary malformation-arteriovenous malformation syndrome. These disorders are grouped together as RASopathies based on our current understanding of the Ras/MAPK pathway. Abnormal activation of the Ras/MAPK pathway plays a major role in development of RASopathies. The individual disorders of RASopathies are rare, but collectively they are the most common genetic condition (one in 1000 newborns). Activation or dysregulation of the common Ras/MAPK pathway gives rise to overlapping clinical features of RASopathies, involving the cardiovascular, lymphatic, musculoskeletal, cutaneous, and central nervous systems. At the same time, there is much phenotypic variability in this group of disorders. Benign and malignant tumors are associated with certain disorders. Recently, many institutions have established multidisciplinary RASopathy clinics to address unique therapeutic challenges for patients with RASopathies. Medications developed for Ras/MAPK pathway-related cancer treatment may also control the clinical symptoms due to an abnormal Ras/MAPK pathway in RASopathies. Therefore, radiologists need to be aware of the concept of RASopathies to participate in multidisciplinary care. As with the clinical manifestations, imaging features of RASopathies are overlapping and at the same time diverse. As an introduction to the concept of RASopathies, the authors present major representative RASopathies, with emphasis on their imaging similarities and differences. ©RSNA, 2024 Test Your Knowledge questions for this article are available in the supplemental material.

An Innovative Non-Invasive Method for Early Detection and Monitoring of Acute Compartment Syndrome.

Background: Acute compartment syndrome is a major surgical emergency with complex pathophysiology and a highly unpredictable pattern of evolution. We hypothesized that the onset of acute compartment syndrome of the leg or forearm is associated with variations in the surface temperature of the distal segment (foot or hand) with a distinct pattern, which acts as an early warning sign. Materials and Methods: We developed a monitoring device that consists of two thermic sensors attached to a modular limb splint, which continuously measure the temperature difference between the proximal and distal regions of the limb (i.e., arm-hand, thigh-foot). Firstly, we investigated both the arm-hand and thigh-foot temperature gradients of hospitalized patients' healthy limbs (43 patients, 56 upper limbs, 64 lower limbs) in order to establish a baseline. Secondly, we examined the correlation between the thermic gradients and intracompartmental pressure values in compartment syndrome limbs (20 patients, 6 upper limbs, 14 lower limbs). Results: For the control group, the mean values for the normal limb thermic gradients were -0.17 °C for the upper limbs. and 0.03 °C for the lower limbs. In the impending compartment syndrome group (defined by intracompartmental pressure values), the mean index was -0.38 °C. In the fully developed compartment syndrome group, the mean value was 4.11 °C. Discussions: Analysis was performed using the ANOVA one-way statistical method. This showed significant differences between the compartment syndrome group and the impending and control groups. A decreasing trend in the thermic gradient in patients with impending compartment syndrome compared with the control group was noted. Conclusions: The thermic gradient of limbs presenting signs of impending compartment syndrome decreases as a result of the increased temperature of the distal segment. This pattern can be used as an early diagnostic method for acute compartment syndrome. This technique is non-invasive and bears no risk to the patient, allowing facile continuous monitoring during immobilization.

Long-term Outcomes of Surgically Treated Congenital Dislocation of the Knee.

Congenital dislocation of the knee (CDK) may be idiopathic or associated with another condition, such as Larsen syndrome or arthrogryposis. Surgical reduction of type-3 dislocation may require quadricepsplasty (QP) or femoral diaphyseal shortening (FS). Because it is unknown which treatment is more effective, we evaluated long-term outcomes using patient-reported questionnaires and gait analysis, comparing results by surgery type and underlying diagnosis. Twelve patients (mean age, 19mo) were treated surgically for CDK from 1985 to 2015 and studied 9 to 30 years postoperatively. Three participants had idiopathic CDK, 5 had Larsen syndrome, and 4 had arthrogryposis. Eleven knees underwent QP and 7 underwent FS. Participants were evaluated in our movement science laboratory and completed patient-reported outcome questionnaires. Data were compared with healthy, age-matched control values at the same visit. Surgically treated knees had less flexion during swing ( P <0.01), less overall motion ( P <0.01), greater coronal instability ( P <0.04), and slower gait ( P <0.01) compared with controls. QP knees had more instability in midstance ( P =0.03) and less flexion during gait compared with FS knees, less sagittal power generation than controls ( P <0.01), and trended toward lower scores on Knee Injury and Osteoarthritis Outcome and Lysholm Knee Questionnaires than FS patients did. The idiopathic group had the gait most similar to that of controls, followed by the Larsen syndrome group and then the arthrogryposis group. The idiopathic group also had a better UCLA Activity Score ( P =0.03) than the arthrogryposis group did. Surgical treatment of type-3 CDK will not likely restore normal knee function, suggesting teratologic joint abnormality. In this small series, FS produced better gait mechanics and patient-reported outcomes compared with QP. Not surprisingly, patients with idiopathic CDK had better outcomes than those with a syndromic diagnosis, likely related to having only a single joint affected. Level III.

Exploring an objective measure of overactivity in children with rare genetic syndromes

BackgroundOveractivity is prevalent in several rare genetic neurodevelopmental syndromes, including Smith-Magenis syndrome, Angelman syndrome, and tuberous sclerosis complex, although has been predominantly assessed using questionnaire techniques. Threats to the precision and validity of questionnaire data may undermine existing insights into this behaviour. Previous research indicates objective measures, namely actigraphy, can effectively differentiate non-overactive children from those with attention-deficit hyperactivity disorder. This study is the first to examine the sensitivity of actigraphy to overactivity across rare genetic syndromes associated with intellectual disability, through comparisons with typically-developing peers and questionnaire overactivity estimates.MethodsA secondary analysis of actigraphy data and overactivity estimates from The Activity Questionnaire (TAQ) was conducted for children aged 4-15 years with Smith-Magenis syndrome (N=20), Angelman syndrome (N=26), tuberous sclerosis complex (N=16), and typically-developing children (N=61). Actigraphy data were summarized using the M10 non-parametric circadian rhythm variable, and 24-hour activity profiles were modelled via functional linear modelling. Associations between actigraphy data and TAQ overactivity estimates were explored. Differences in actigraphy-defined activity were also examined between syndrome and typically-developing groups, and between children with high and low TAQ overactivity scores within syndromes.ResultsM10 and TAQ overactivity scores were strongly positively correlated for children with Angelman syndrome and Smith-Magenis syndrome. M10 did not substantially differ between the syndrome and typically-developing groups. Higher early morning activity and lower evening activity was observed across all syndrome groups relative to typically-developing peers. High and low TAQ group comparisons revealed syndrome-specific profiles of overactivity, persisting throughout the day in Angelman syndrome, occurring during the early morning and early afternoon in Smith-Magenis syndrome, and manifesting briefly in the evening in tuberous sclerosis complex.DiscussionThese findings provide some support for the sensitivity of actigraphy to overactivity in children with rare genetic syndromes, and offer syndrome-specific temporal descriptions of overactivity. The findings advance existing descriptions of overactivity, provided by questionnaire techniques, in children with rare genetic syndromes and have implications for the measurement of overactivity. Future studies should examine the impact of syndrome-related characteristics on actigraphy-defined activity and overactivity estimates from actigraphy and questionnaire techniques.