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World Journal of Orthopedics Jun 2024Mazabraud's syndrome (MS) is a rare and slowly progressive benign disease characterized by the concurrent presence of fibrous dysplasia of bone and intramuscular myxoma,...
BACKGROUND
Mazabraud's syndrome (MS) is a rare and slowly progressive benign disease characterized by the concurrent presence of fibrous dysplasia of bone and intramuscular myxoma, and is thought to be associated with mutations of the gene. To date, only about 100 cases of MS have been reported in the literature, but its standard treatment strategy remains unclear.
CASE SUMMARY
We report two cases of MS in young women who underwent different treatments based on their symptoms and disease manifestations. The first patient, aged 37, received internal fixation and intravenous bisphosphonate for a pathological fracture of the right femoral neck, excision of a right vastus medialis myxoma was subsequently performed for pain control, and asymptomatic psoas myxomas were monitored without surgery. Genetic testing confirmed a gene mutation in this patient. The second patient, aged 24, underwent right vastus intermedius muscle myxoma resection, and conservative treatment for fibrous dysplasia of the ilium. These patients were followed-up for 17 months and 3 years, respectively, and are now in a stable condition.
CONCLUSION
Various treatments have been selected for MS patients who suffer different symptoms. The main treatment for myxomas is surgical resection, while fibrous dysplasia is selectively treated if the patient experiences pathological fracture or severe pain. However, given the documented instances of malignant transformation of fibrous dysplasia in individuals with MS, close follow-up is necessary.
PubMed: 38947265
DOI: 10.5312/wjo.v15.i6.593 -
World Journal of Orthopedics Jun 2024A discoid meniscus is a morphological abnormality wherein the meniscus loses its normal 'C' shape. Although most patients are asymptomatic, patients might still present... (Review)
Review
A discoid meniscus is a morphological abnormality wherein the meniscus loses its normal 'C' shape. Although most patients are asymptomatic, patients might still present with symptoms such as locking, pain, swelling, or giving way. Magnetic resonance imaging is usually needed for confirmation of diagnosis. Based on a constellation of factors, including clinical and radiological, different approaches are chosen for the management of discoid meniscus. The purpose of this review is to outline the treatment of discoid meniscus, starting from conservative approach, to the different surgical options for this condition. The PubMed and Google Scholar databases were used for this review. Studies discussing the treatment of discoid meniscus from 2018 to 2023 were searched. Initially there were 369 studies retrieved, and after removal of studies using the exclusion criteria, 26 studies were included in this review. Factors such as stability, presence of tear, and morphology can help with surgical planning. Many approaches have been used to treat discoid meniscus, where the choice is tailored for each patient individually. Postoperatively, factors that may positively impact patient outcomes include male sex, body mass index < 18.5, age at symptom onset < 25 years, and duration of symptoms < 24 months. The conventional approach is partial meniscectomy with or without repair; however, recently, there has been an increased emphasis on discoid-preserving techniques such as meniscoplasty, meniscopexy, and meniscal allograft transplantation.
PubMed: 38947261
DOI: 10.5312/wjo.v15.i6.520 -
CASE (Philadelphia, Pa.) May 2024• ARVC is a life-threatening disease that requires early detection to prevent SCD. • ms-RVOT may serve as an early clue for diagnosis of ARVC. • ms-RVOT may help...
• ARVC is a life-threatening disease that requires early detection to prevent SCD. • ms-RVOT may serve as an early clue for diagnosis of ARVC. • ms-RVOT may help preempt adverse outcomes in asymptomatic ARVC cases.
PubMed: 38947190
DOI: 10.1016/j.case.2024.03.003 -
MedRxiv : the Preprint Server For... Jun 2024Blood-based biomarkers are gaining grounds for Alzheimer's disease (AD) detection. However, two key obstacles need to be addressed: the lack of methods for multi-analyte...
BACKGROUND
Blood-based biomarkers are gaining grounds for Alzheimer's disease (AD) detection. However, two key obstacles need to be addressed: the lack of methods for multi-analyte assessments and the need for markers of neuroinflammation, vascular, and synaptic dysfunction. Here, we evaluated a novel multi-analyte biomarker platform, NULISAseq CNS disease panel, a multiplex NUcleic acid-linked Immuno-Sandwich Assay (NULISA) targeting ∼120 analytes, including classical AD biomarkers and key proteins defining various disease hallmarks.
METHODS
The NULISAseq panel was applied to 176 plasma samples from the MYHAT-NI cohort of cognitively normal participants from an economically underserved region in Western Pennsylvania. Classical AD biomarkers, including p-tau181, p-tau217, p-tau231, GFAP, NEFL, Aβ40, and Aβ42, were also measured using Single Molecule Array (Simoa). Amyloid pathology, tau pathology, and neurodegeneration were evaluated with [11C] PiB PET, [18F]AV-1451 PET, and MRI, respectively. Linear mixed models were used to examine cross-sectional and Wilcoxon rank sum tests for longitudinal associations between NULISA biomarkers and AD pathologies. Spearman correlations were used to compare NULISA and Simoa.
RESULTS
NULISA concurrently measured 116 plasma biomarkers with good technical performance, and good correlation with Simoa measures. Cross-sectionally, p-tau217 was the top hit to identify Aβ pathology, with age, sex, and genotype-adjusted AUC of 0.930 (95%CI: 0.878-0.983). Fourteen markers were significantly decreased in Aβ-PET+ participants, including TIMP3, which regulates brain Aβ production, the neurotrophic factor BDNF, the energy metabolism marker MDH1, and several cytokines. Longitudinally, FGF2, IL4, and IL9 exhibited Aβ PET-dependent yearly increases in Aβ-PET+ participants. Markers with tau PET-dependent longitudinal changes included the microglial activation marker CHIT1, the reactive astrogliosis marker CHI3L1, the synaptic protein NPTX1, and the cerebrovascular markers PGF, PDGFRB, and VEFGA; all previously linked to AD but only reliably measured in cerebrospinal fluid. SQSTM1, the autophagosome cargo protein, exhibited a significant association with neurodegeneration status after adjusting age, sex, and ε4 genotype.
CONCLUSIONS
Together, our results demonstrate the feasibility and potential of immunoassay-based multiplexing to provide a comprehensive view of AD-associated proteomic changes. Further validation of the identified inflammation, synaptic, and vascular markers will be important for establishing disease state markers in asymptomatic AD.
PubMed: 38947065
DOI: 10.1101/2024.06.15.24308975 -
MedRxiv : the Preprint Server For... Jun 2024Understanding COVID-19's impact on children is vital for public health policy, yet age-specific data is scarce, especially in Uganda. This study examines SARS-CoV-2...
BACKGROUND
Understanding COVID-19's impact on children is vital for public health policy, yet age-specific data is scarce, especially in Uganda. This study examines SARS-CoV-2 seroprevalence and risk factors among Ugandan children at two timepoints, along with COVID-19-related knowledge and practices in households, including adult vaccination status.
METHODS
Baseline surveys were conducted in 12 communities from April to May 2021 (post-Alpha wave) and follow-up surveys in 32 communities from November 2021 to March 2022 (Omicron wave). Household questionnaires and blood samples were collected to test for malaria by microscopy and for SARS-CoV-2 using a Luminex assay. Seroprevalence was estimated at both the survey and community level. Mixed-effects logistic regression models assessed the association between individual and household factors and SARS-CoV-2 seropositivity in children, adjusting for household clustering.
RESULTS
More households reported disruptions in daily life at baseline compared to follow-up, though economic impacts lingered. By the follow-up survey, 52.7% of adults had received at least one COVID-19 vaccine dose. Overall seroprevalence in children was higher at follow-up compared to baseline (71.6% versus 19.2%, p < 0.001). Seroprevalence in children ranged across communities from 6-37% at baseline and 50-90% at follow-up. At baseline, children from the poorest households were more likely to be infected. Increasing age remained the only consistent risk factor for SARS-CoV-2 seroconversion at both timepoints.
CONCLUSIONS
Results indicate that a larger number of children were infected by the Delta and Omicron waves of COVID-19 compared to the Alpha wave. This study is the largest seroprevalence survey in children in Uganda, providing evidence that most children were infected with SARS-CoV-2 before the vaccine was widely available to pediatric populations. Pediatric infections were vastly underreported by case counts, highlighting the importance of seroprevalence surveys in assessing disease burden when testing and reporting rates are limited and many cases are mild or asymptomatic.
PubMed: 38947039
DOI: 10.1101/2024.06.09.24308673 -
MedRxiv : the Preprint Server For... Jun 2024Chronic liver disease affects more than 1.5 billion adults worldwide, however the majority of cases are asymptomatic and undiagnosed. Echocardiography is broadly...
IMPORTANCE
Chronic liver disease affects more than 1.5 billion adults worldwide, however the majority of cases are asymptomatic and undiagnosed. Echocardiography is broadly performed and visualizes the liver; but this information is not leveraged.
OBJECTIVE
To develop and evaluate a deep learning algorithm on echocardiography videos to enable opportunistic screening for chronic liver disease.
DESIGN
Retrospective observational cohorts.
SETTING
Two large urban academic medical centers.
PARTICIPANTS
Adult patients who received echocardiography and abdominal imaging (either abdominal ultrasound or abdominal magnetic resonance imaging) with ≤30 days between tests, between July 4, 2012, to June 4, 2022.
EXPOSURE
Deep learning model predictions from a deep-learning computer vision pipeline that identifies subcostal view echocardiogram videos and detects the presence of cirrhosis or steatotic liver disease (SLD).
MAIN OUTCOME AND MEASURES
Clinical diagnosis by paired abdominal ultrasound or magnetic resonance imaging (MRI).
RESULTS
A total of 1,596,640 echocardiogram videos (66,922 studies from 24,276 patients) from Cedars-Sinai Medical Center (CSMC) were used to develop EchoNet-Liver, an automated pipeline that identifies high quality subcostal images from echocardiogram studies and detects the presence of cirrhosis or SLD. In the held-out CSMC test cohort, EchoNet-Liver was able to detect the presence of cirrhosis with an AUC of 0.837 (0.789 - 0.880) and SLD with an AUC of 0.799 (0.758 - 0.837). In a separate test cohort with paired abdominal MRIs, cirrhosis was detected with an AUC of 0.704 (0.689-0.718) and SLD was detected with an AUC of 0.726 (0.659-0.790). In an external test cohort of 106 patients (n = 5,280 videos), the model detected cirrhosis with an AUC of 0.830 (0.738 - 0.909) and SLD with an AUC of 0.768 (0.652 - 0.875).
CONCLUSIONS AND RELEVANCE
Deep learning assessment of clinical echocardiography enables opportunistic screening of SLD and cirrhosis. Application of this algorithm may identify patients who may benefit from further diagnostic testing and treatment for chronic liver disease.
KEY POINTS
Can a deep learning algorithm applied to echocardiography videos effectively identify chronic liver diseases including cirrhosis and steatotic liver disease (SLD)? This retrospective observational cohort study utilized 1,596,640 echocardiography videos from 66,922 studies of 24,276 patients. The deep learning model with a computer vision pipeline (EchoNet-Liver) demonstrated strong performance to detect cirrhosis and SLD. External validation at a geographically distinct site demonstrated similar discriminative ability. The application of EchoNet-Liver to echocardiography could aid opportunistic screening of chronic liver diseases, providing a unique cost-effective angle to improve patient management.
PubMed: 38947008
DOI: 10.1101/2024.06.13.24308898 -
AJOG Global Reports Aug 2024Intrahepatic cholestasis of pregnancy has been linked to sudden stillbirth. The suddenness of the stillbirths in these cases have led clinicians to suspect that the...
BACKGROUND
Intrahepatic cholestasis of pregnancy has been linked to sudden stillbirth. The suddenness of the stillbirths in these cases have led clinicians to suspect that the pathogenesis of stillbirth in women with intrahepatic cholestasis of pregnancy is not related to asphyxia but rather to an undefined etiology. One leading hypothesis relates certain bile acid metabolites to myocardial injury.
OBJECTIVE
The purpose of this study was to determine whether cord blood troponin I levels are increased in fetuses born to mothers with a diagnosis of intrahepatic cholestasis of pregnancy.
STUDY DESIGN
A prospective, case-control study was performed at a single institution between 2017 to 2019 in which 87 pregnant patients with a diagnosis of intrahepatic cholestasis of pregnancy (total bile acids ≥10 μmol/L) were enrolled as cases and 122 randomly selected pregnant patients (asymptomatic with intrapartum total bile acids <10 μmol/L) were enrolled as controls. Cord blood troponin I levels were measured at delivery in both groups using a commercially available chemiluminescent immunoassay. Values ≤0.04 ng/mL were considered negative. Values >0.04 ng/mL were considered positive. The primary outcome was the presence of elevated troponin levels in both cases and controls as a surrogate marker for cardiac status. Our secondary outcomes included neonatal intensive care unit stay, low Apgar scores, neonatal acidosis, and hypoxia indicated by cord blood pH and base excess levels at the time of birth. Chi square and tests were performed to compare social and obstetrical variables. A value of <.05 was considered significant. A stratification by total bile acids range of <40 μmol/L, 40 to 100 μmol/L, and >100 μmol/L was performed to assess the relationship between the different severities of intrahepatic cholestasis of pregnancy (by risk of fetal demise with those with total bile acids of >100 μmol/L considered at greatest risk) and the likelihood of a positive troponin I result. Finally, a logistic regression analysis was performed to determine if levels of ≥10 μmol/L were associated with elevated troponin levels.
RESULTS
The mean gestational age at delivery was 38.96±1.47 and 37.71±1.59 weeks of gestation in the controls and cases respectively (<.001). The mean total bile acids values were 5.2±1.28 ng/mL and 43.2±40.62 ng/mL in the controls and cases respectively (<.001). Cord blood troponin I was positive in 15 of 122 (12.30%) controls and in 20 of 87 (22.99%) cases. (<.001). When further stratified by total bile acids levels of <40, 40 to 100, and >100 μmol/L, we found a positive correlation between higher total bile acids levels and a positive troponin I test (=.002). When controlling for gestational age at delivery, maternal age, and body mass index, higher total bile acids levels were associated with a positive troponin I level (adjusted odds ratio, 1.015; 95% confidence interval, 1.004-1.026).
CONCLUSION
Elevated troponin I was more likely to be found in patients with intrahepatic cholestasis of pregnancy than in those without intrahepatic cholestasis of pregnancy. When stratified by total bile acids levels, a positive troponin I level was more likely to be found with higher levels of total bile acids. In addition, as total bile acids levels increased, they were more likely to be associated with a positive troponin I level. Although there were no stillbirths in our cohort, our findings suggest a potential relationship between cardiac injury and high levels of total bile acids demonstrated by the presence of elevated troponin I levels in cord blood at the time of birth.
PubMed: 38946940
DOI: 10.1016/j.xagr.2024.100356 -
IDCases 2024Hydatidosis, is a zoonotic disease prevalent in sheep-raising regions globally. Musculoskeletal hydatidosis is uncommon and usually remains asymptomatic over a long...
Hydatidosis, is a zoonotic disease prevalent in sheep-raising regions globally. Musculoskeletal hydatidosis is uncommon and usually remains asymptomatic over a long period. The detection of musculoskeletal hydatidosis often signifies extensive cyst spread within the bone marrow cavity, making treatment difficult with a high recurrence rate. Unlike the conventional surgical approach for visceral hydatid cysts, treating osseous hydatidosis requires a strategy akin to oncologic therapy. We report a rare case of primary hydatidosis affecting the ulna and adjacent soft tissue in a 58-year-old woman. She presented with a painless forearm mass evolving over six years, accompanied by recent onset tenderness and restricted elbow joint mobility. Imaging revealed a cystic mass in the forearm, an intra-ulnar bone lesion, and an olecranon fracture. The primary diagnosis of musculoskeletal hydatidosis was made based on clinical findings and radiological imaging. Treatment involved resection of 2/3 of the proximal ulna and pericystectomy for the soft tissue hydatid cyst. Diagnosis of musculoskeletal hydatidosis is vital for effective preoperative planning, as internal fixation often fails without eradicating the infestation. Treatment typically involves radical operation with wide excision of the affected bone and adjacent joint structures, coupled with chemotherapy. Clinicians in endemic regions should consider musculoskeletal hydatidosis in the differential diagnosis of osteolytic lesions and slow-growing cystic masses. Diagnosis relies on clinical, serological, and radiological assessments.
PubMed: 38946938
DOI: 10.1016/j.idcr.2024.e01994 -
The Pan African Medical Journal 2024Congenital ventricular aneurysms (CVA) are rare cardiac anomalies that have been predominantly described in the Black population. They are characterized by an akinetic...
Congenital ventricular aneurysms (CVA) are rare cardiac anomalies that have been predominantly described in the Black population. They are characterized by an akinetic ventricular protrusion that is commonly located at the basal and apical segments. Although the diagnosis is often incidental and the majority of patients are asymptomatic, life-threatening events such as persistent ventricular arrhythmias, CVA rupture, and heart failure are not uncommon. However, no standardized therapy is currently available and good outcomes have been reported with both conservative and surgical management. We report the cases of two young Black African patients with huge symptomatic CVA lesions who underwent successful surgical repair with a ventricular restoration technique. Both cases were consulted for chest pain and dyspnea. Chest X-ray and transthoracic Doppler echocardiography suggested the diagnosis. Thoracic angioscanner and thoracic magnetic resonance imaging confirmed the diagnosis. Both patients underwent successful surgery. This case report aims to revisit the diagnostic and therapeutic approach to this rare pathology, in our professional environment.
Topics: Adult; Female; Humans; Male; Young Adult; Black People; Chest Pain; Dyspnea; Echocardiography, Doppler; Heart Aneurysm; Heart Ventricles; Magnetic Resonance Imaging; Africa South of the Sahara
PubMed: 38946742
DOI: 10.11604/pamj.2024.48.8.36988 -
CNS Neuroscience & Therapeutics Jul 2024Wallerian degeneration (WD) of the middle cerebellar peduncles (MCPs) following pontine infarction is a rare secondary degenerative neurological condition. Due to its...
OBJECTIVE
Wallerian degeneration (WD) of the middle cerebellar peduncles (MCPs) following pontine infarction is a rare secondary degenerative neurological condition. Due to its infrequency, there is limited research on its characteristics.
METHODS
This study aims to present three cases of WD of MCPs following pontine infarction and to analyze the prognosis, clinical manifestations, and neuroimaging features by amalgamating our cases with previously reported ones.
RESULTS
The cohort consisted of 25 cases, comprising 18 men and 7 women aged 29 to 77 years (mean age: 66.2 years). The majority of patients (94%) exhibit risk factors for cerebrovascular disease, with hypertension being the primary risk factor. Magnetic resonance imaging (MRI) can detect WD of MCPs within a range of 21 days to 12 months following pontine infarction. This degeneration is characterized by bilateral symmetric hyperintensities on T2/FLAIR-weighted images (WI) lesions in the MCPs. Moreover, restricted diffusion, with hyperintensity on diffusion-weighted imaging (DWI) and low apparent diffusion coefficient (ADC) signal intensity may be observed as early as 21 days after the infarction. Upon detection of WD, it was observed that 20 patients (80%) remained asymptomatic during subsequent clinic visits, while four (16%) experienced a worsening of pre-existing symptoms.
CONCLUSIONS
These findings underscore the importance of neurologists enhancing their understanding of this condition by gaining fresh insights into the neuroimaging characteristics, clinical manifestations, and prognosis of individuals with WD of bilateral MCPs.
Topics: Humans; Male; Female; Middle Aged; Aged; Adult; Wallerian Degeneration; Pons; Brain Stem Infarctions; Middle Cerebellar Peduncle; Magnetic Resonance Imaging; Neuroimaging
PubMed: 38946709
DOI: 10.1111/cns.14828