Cases Of Disease Research Articles

A hybrid deep learning optimization for predicting the spread of a new emerging infectious disease

<span lang="EN-US">In this study, a novel approach geared toward predicting the estimated number of coronavirus disease (COVID-19) cases was developed. Combining long short-term memory (LSTM) neural networks with particle swarm optimization (PSO) along with grey wolf optimization (GWO) employ hybrid optimization algorithm techniques. This investigation utilizes COVID-19 original data from the Ministry of Health of Indonesia, period 2020-2021. The developed LSTM-PSO-GWO hybrid optimization algorithm can improve the performance and accuracy of predicting the spread of the COVID-19 virus in Indonesia. In initiating LSTM initial weights with weaknesses, using the hybrid optimization algorithm helps overcome these problems and improve model performance. The results of this study suggest that the LSTM-PSO-GWO model can be utilized as an effective and reliable predictive tool to gauge the COVID-19 virus’s spread in Indonesia. </span>

Machine Learning Techniques for the Classification of Thyroid Disease

Abstract: In the healthcare system, dealing with a large amount of data is challenging. The techniques of machine learning are used in dealing with such data. As per NFHS – 5 statistics, thyroid diseases are increasing in India. Roughly 1 in 10 Indian adults suffer from a thyroid disorder. It has been expected that more than 42 million peoples suffer from thyroid disease. For the proper diagnosis of disease, it is vital to process the medical data accurately. This study classified thyroid disease cases into hyperthyroid, euthyroid, hypothyroid, and sick. This paper aims to inspect Logistic regression for multiclass categorizing the thyroid dataset. This logistic regression model is evaluated based on its precision, recall, F measure, ROC, RMS Error, and accuracy metrics. Based on the thyroid dataset, we find that logistic regression using the One-vs.-Rest heuristic is 85% accurate, while logistic regression using the multinomial is 86% accurate.

Transthoracic echocardiography evaluation of double outlet left ventricle: Unique case report and review of literature

Double-outlet left ventricle (DOLV) is a rare cardiac malformation in which both great arteries originate from the morphological left ventricle. DOLV is associated with high mortality, generally due to heart failure, myocardial infarction, or aortic thrombosis. With surgery, the 5-year survival rate is estimated at 70%–75%. Most patients will continue to present with residual cardiac anomalies, such as aortic or mitral valve regurgitation, arrhythmias, or hypertension. We are reporting a complex case of cyanotic congenital heart disease in a 5 month old female infant suffering from DOLV, who presented to us with recurrent chest infections and bluish colouration of skin.

Immunological and microbial shifts in the aging rhesus macaque lung during nontuberculous mycobacterial infection.

Nontuberculous mycobacteria (NTM) are emerging as pathogens of high consequence, as cases of NTM pulmonary disease (NTMPD) have exceeded those of Mycobacterium tuberculosis. NTMPD can be debilitating, particularly in patients over 65 years of age, as it causes chronic cough and fatigue requiring prolonged treatments with antibiotics. The underlying mechanisms of this increased disease severity with age are poorly understood, hampering the development of therapeutics and vaccines. Here, we use a rhesus macaque model to investigate the impact of age on host-NTM interactions. This work shows that aging is associated with increased disease severity and bacterial persistence in aged rhesus macaques, thus providing a preclinical model to develop and test novel therapeutics and interventions.

Unguarded liabilities: Borrelia burgdorferi’s complex amino acid dependence exposes unique avenues of inhibition

Recent reports from the Centers for Disease Control and Prevention approximate 500,000 cases of Lyme disease in the United States yearly, a significant economic burden on the healthcare system. The standard treatment for Lyme disease includes broad-spectrum antibiotics, which may be administered for extensive periods of time and result in significant impacts to the patient. Recently, we demonstrated that Borrelia burgdorferi, the causative agent of Lyme disease, is uniquely dependent upon peptide acquisition via an oligopeptide transport (Opp) system. This dependence appears unique to the spirochete; thus, the Opp system may constitute a novel and specific target for the inhibition of B. burgdorferi. For proof of concept, we conducted a pilot screen to determine if the Opp system constitutes a viable inhibitor target. OppA2 was utilized as our target protein as it is the most prolific peptide-binding protein throughout the enzootic cycle. We validated a thermal shift assay (TSA) to detect ligand binding against OppA2 and performed a high-throughput screen of 2,240 molecules from a diversity set library. The TSA results identified eight compounds (C1–8) demonstrating potential binding to OppA2, and growth assays identified C2 and C7 as inhibitors of B. burgdorferi growth. We confirmed by TSA that these two compounds interact with additional B. burgdorferi OppAs, potentially resulting in a cumulative inhibitory effect. Additionally, we showed that these compounds have no effect on Escherichia coli, a bacterium that encodes a dispensable Opp system which serves only as an ancillary nutrient transporter. These data demonstrate that the Opp system of B. burgdorferi acts as a viable drug target, with the potential for targeting multiple OppAs with a single compound. Moreover, the lack of inhibition against E. coli suggests that selective targeting of B. burgdorferi via the Opp system may be possible.

Leukodytrophy in Children: 12 Cases

Introduction: Leukodystrophies are a rare geneLc disease characterized by damage of the myelin sheath. They represent a large number of diseases that are heterogeneous by their clinical and physiopathological aspects. Material and Methods: We report 12 cases of leukodystrophies collected at the Neuropediatric Unit of Abderrahim Harouchi Mother and Child Hospital CHU Ibn Rochd, Casablanca, Morocco. Results: The average age of diagnosis was 2 years and 9 months, with a predominance of females (sex raLo:0.33). Consanguinity was found in 5 cases. The onset symptomatology was dominated by psychomotor regression, found in 8 paLents, and seizures in 4 paLents. Motor signs were in the foreground: pyramidal syndrome in 5 cases, hypotonia in 4 cases, tetraparesis in 1 case, dysarthria in 1 case. The lumbar puncture, carried out in 4 paLents, revealed hyperproteinorachy in 3 cases, glycorachy and cytological study were normal. We noLced a decreased level of Aryllsulfatase A in 6 cases. Imaging was performed in all paLents and showed diffuse white ma]er demyelinaLon. MRI allowed us to classify our cases and showed 7 cases of metachromaLc leukodystrophy, 1 case of cavitary leukodystrophy, 1 case of Refsum disease, 1 case of Canavan disease, 1 case of Cockaynes syndrome and 1 case of adrenoleukodystrophy. The electroneuromyogram showed a decrease in nerve conducLon velociLes in 2 cases. Molecular study was performed in one paLent finding a hyccin mutaLon. Conclusion: The diagnosis of leukodystrophies is o_en difficult because of their clinical heterogeneity. The partnership of clinicians with geneLcists may be the key point to improve diagnosis and therapeuLc management.

Very elevated hCGβ (≥10 multiple of the median) in maternal marker screening for Down syndrome: Frequency, etiologies, outcomes, and guidelines.

This aim of this study was to detail maternal and fetal anomalies observed on a national scale in a large French cohort of patients presenting high hCG values (≥10 multiple of the median [MoM]) at Down syndrome screening in order to define clear and optimal guidelines. This is a retrospective multicenter study based on a French annual database of all trisomy 21 screenings. Our study targeted and studied cases with hCG or hCGβ values ≥10 MoM. Complementary exams and outcomes were analyzed. The calculated frequency was 0.05% for hCGβ ≥10 MoM in unselected patients. For this series of 289 cases, a complication of the pregnancy or a poor outcome was observed in 145 cases (51%) as follows: 96 (66%) cases of fetal disease, 23 (16%) of maternal disease, 5 (3.5%) of placental anomalies and 21 (14.5%) of systemic disease concerning mother, fetus and placenta. This study establishes the frequency of hCG or hCGβ values ≥10 MoM, presents a flow chart that optimizes follow-up, and gives clear information for patients presenting with such abnormal values at trisomy 21 screening.

An atypical case of chronic paracoccidioidomycosis in a dog caused by a fungus from the Paracoccidioides brasiliensis complex.

Paracoccidioidomycosis (PCM) is a systemic mycosis endemic in Latin American countries and one of the most important fungal diseases regarding incidence and mortality in humans. PCM has also been described in some animal species such as dogs. In this study we describe a new case of PCM disease in a dog that differed from previous records in the literature which includes a progressive evolution of fungal dermatitis causing a deforming lesion in the nose, like those found in human patients, and humoral response against gp70 instead of gp43, the major diagnostic antigen for human PCM. The clinical isolate through the ITS and partial gp43 gene phylogenetic analysis was grouped in the Paracoccidioides brasiliensis complex. This case describes several features which may contribute to improving diagnosis and understanding of canine paracoccidioidomycosis.

Prevalence and Magnitude of Olfactory Dysfunction in Allergic Rhinitis.

Although allergic rhinitis (AR) can negatively impact the ability to smell, the degree to which this occurs is not clear and prevalence estimates vary among studies. This study had 4 main objectives: (1) To estimate the prevalence and the degree of olfactory dysfunction in AR patients; (2) To compare olfactory perception between AR patients with different persistence and severity of symptoms and determine if olfactory testing may aid in differentiating among Allergic Rhinitis and its Impact on Asthma (ARIA) groups; (3) To determine whether allergic reactions to different allergens differentially impact olfactory function, and (4) Verify possible changes in the olfactory epithelium (OE) caused by AR. One hundred thirty-three patients with AR and one hundred controls were tested. The main outcome was the score in University of Pennsylvania Smell Identification Test (UPSIT®). The OE was examined using immunofluorescence markers for neuronal activity, apoptosis, oxidative stress, signal transduction, eosinophils, and epithelial thickness. Prevalence of olfactory dysfunction in the AR patients was higher (AR: 42.9% vs controls: 9%, P < .001). No difference was found either between intermittent and persistent disease cases (P = .58) or between cases with mild and those with moderate/severe symptomatology (P = .33). Lower olfactory capacity was not associated with the reaction to more (P = .48) or diverse types of allergens (Ps > .05). Although not significant, patients with AR had a greater amount of eosinophilia and a lower amount of cAMP (cyclic adenosine monophosphate) in the OE. The study highlights a higher prevalence of olfactory dysfunction in AR patients compared to controls, but olfactory testing may not effectively differentiate AR severity or allergen sensitivities. Although trends suggest potential pathophysiological changes in the OE of AR patients, further research is needed to validate these findings.

Parkinson's Disease Associated with G2019S LRRK2 Mutations without Lewy Body Pathology.

The G2019S leucine-rich repeat kinase 2 (LRRK2) gene mutation is an important and commonly found genetic determinant of Parkinson's disease (PD). The neuropathological findings associated with this mutation have thus far been varied but are most often associated with Lewy body (LB) pathology. Describe a case of clinical Parkinson's disease with levodopa responsiveness found to have LRRK2 mutations and the absence of Lewy bodies. We present an 89-year-old man with a 10-year history of slowly progressive parkinsonism suspected to be secondary to Parkinson's disease. Neuropathological evaluation revealed nigral degeneration without Lewy bodies or Lewy neurites, but there were frequent tau-immunopositive neurites and astrocytes in the putamen and substantia nigra, neocortical glial tau positive astrocytes associated with aging-related tau astrogliopathy (ARTAG), as well as neurofibrillary tangles, beta amyloid plaques, and amyloid angiopathy typical of advanced Alzheimer's disease. G2019S LRRK2 homozygous mutations were found. This case illustrates that levodopa-responsive clinical PD caused by G2019S LRRK2 mutations can occur without Lewy bodies.

A clinical case of cardiopulmonary dirofilariasis in a cat

A clinical case of cardiopulmonary dirofilariasis in a cat

Human disease-causing mutations result in loss of leiomodin 2 through nonsense-mediated mRNA decay.

The leiomodin (Lmod) family of actin-binding proteins play a critical role in muscle function, highlighted by the fact that mutations in all three family members (LMOD1-3) result in human myopathies. Mutations in the cardiac predominant isoform, LMOD2 lead to severe neonatal dilated cardiomyopathy. Most of the disease-causing mutations in the LMOD gene family are nonsense, or frameshift, mutations predicted to result in expression of truncated proteins. However, in nearly all cases of disease, little to no LMOD protein is expressed. We show here that nonsense-mediated mRNA decay, a cellular mechanism which eliminates mRNAs with premature termination codons, underlies loss of mutant protein from two independent LMOD2 disease-causing mutations. Furthermore, we generated steric-blocking oligonucleotides that obstruct deposition of the exon junction complex, preventing nonsense-mediated mRNA decay of mutant LMOD2 transcripts, thereby restoring mutant protein expression. Our investigation lays the initial groundwork for potential therapeutic intervention in LMOD-linked myopathies.

A case of IgG4-related disease associated with ulcerative colitis that was successfully treated with a JAK inhibitor.

Glucocorticoids (GC) are the standard of care for the induction and maintenance of remission in immunoglobulin G4 (IgG4)-related diseases. However, IgG4-related diseases often relapse with GC dose reduction, not only making GC dose reduction difficult but also necessitating GC dose escalation in many cases. Therefore, other immunosuppressive drugs are required to maintain remission. Here, we report a 39-year-old man with ulcerative colitis and IgG4-related disease who experienced a relapse of both diseases despite treatment with tacrolimus and 6-mercaptopurine. Following the initiation of tofacitinib, a Janus-associated kinase inhibitor, it was possible to reduce the GC dose while maintaining remission of both diseases. This case highlights the potential utility of Janus-associated kinase inhibitors in managing complex cases of IgG4-related disease, especially those with concurrent conditions such as ulcerative colitis.

Epidemiological analysis of cases of acute Chagas Disease in Brazil between 2007 and 2022

Epidemiological analysis of cases of acute Chagas Disease in Brazil between 2007 and 2022

CMV: 100 days after Kidney Transplantation

Cytomegalovirus (CMV) infection is frequent after kidney transplantation, typically occurring within the first 100 days post-transplant. This prospective, multicenter study aimed to estimate the frequency of CMV disease beyond 100 days post-transplant and demonstrate the usefulness of virological diagnosis during this period. Of 48 kidney transplant recipients with suspected CMV disease, 17% had positive CMV viremia, and 6% had confirmed CMV disease. The 3 cases of CMV disease presented with high viral loads, viral syndrome associated with tissue-invasive disease. For the 45 patients without confirmed disease, virological diagnosis allowed the identification of other etiologies, mainly infectious or iatrogenic. Although infrequent beyond 100 days, CMV disease can occur and be severe, justifying virological screening in the presence of suggestive signs. Differential diagnosis with other causes remains paramount.

Tumor Induced Osteomalacia: A Rare Case of Metabolic Bone Disease, often Underdiagnosed or Misdiagnosed

Tumor Induced Osteomalacia: A Rare Case of Metabolic Bone Disease, often Underdiagnosed or Misdiagnosed

Meningococcal Surveillance Australia: Reporting period 1 July to 30 September 2023

The reference laboratories of the Australian Meningococcal Surveillance Programme (AMSP) report data on the number of cases of invasive meningococcal disease (IMD) confirmed by laboratory testing using culture and molecular based techniques. Data contained in quarterly reports are restricted to a description of case numbers of IMD by jurisdiction and serogroup, where known. A full analysis of laboratory confirmations of IMD in each calendar year are contained in the AMSP annual reports.

Profile of Cases of Death Due to Coronary Artery Disease: An Autopsy Based Descriptive Study

Background: Most common cause of sudden cardiac death is coronary artery disease, which contributes to 75 to 90%. The present study is undertaken to describe the profile of autopsy cases of coronary artery disease. Methods:Descriptive cross-sectional study was conducted in all cases of sudden and unexpected death brought for autopsy a tertiary level centre in southern Kerala during a period of one year. Gross and microscopical examination of heart and coronary arteries were studied and in cases with coronary artery disease, associated factors like previous history of illness, personal habits, family history of illness, body mass index, abdominal circumference, horizontal earlobe crease were described in detail. Categorical variables were represented as frequency and percentage, continuous variables as mean and standard deviation and association was tested using Chi square test. Conclusions: Statistically significant association (p value = 0.001) was observed between the horizontal earlobe crease and occlusive coronary artery disease. No significant association was obtained between the obesity parameters like body mass index, waist to hip ratio and occlusive coronary artery disease. Majority of the cases with significant occlusion was observed in the left anterior descending artery.The most common site of thrombus was in the proximal third of left anterior descending artery.

Meningococcal Surveillance Australia: Reporting period 1 April to 30 June 2023

The reference laboratories of the Australian Meningococcal Surveillance Programme (AMSP) report data on the number of cases of invasive meningococcal disease (IMD) confirmed by laboratory testing using culture and molecular based techniques. Data contained in quarterly reports are restricted to a description of case numbers of IMD by jurisdiction and serogroup, where known. A full analysis of laboratory confirmations of IMD in each calendar year are contained in the AMSP annual reports.

Meningococcal Surveillance Australia: Reporting period 1 October to 31 December 2023

The reference laboratories of the Australian Meningococcal Surveillance Programme (AMSP) report data on the number of cases of invasive meningococcal disease (IMD) confirmed by laboratory testing using culture and molecular based techniques. Data contained in quarterly reports are restricted to a description of case numbers of IMD by jurisdiction and serogroup, where known. A full analysis of laboratory confirmations of IMD in each calendar year are contained in the AMSP annual reports.