Aid In Diagnosis Research Articles

AIDS-defining events among people living with HIV who have been under continuous antiretroviral therapy for more than one year, a German cohort study 1999-2018.

This study examined the characteristics, incidence and prognostic factors of the first AIDS-defining condition developed after more than one year of continuous antiretroviral therapy (ART) among people living with HIV (PLHIV). We used data from two multicentre observational cohorts of PLHIV in Germany between 1999 and 2018. Our outcome was the first AIDS-defining event that occurred during follow-up after more than one year of continuous ART. Descriptive analyses at ART initiation, at the time of the AIDS event and of the most frequently observed types of AIDS-defining illnesses were performed. We calculated the incidence rate (IR) per 1000 person-years (PY) and used a bootstrap stepwise selection procedure to identify predictors of the outcome. A total of 12,466 PLHIV were included in the analyses. 378 developed the outcome, constituting an overall IR of 5.6 (95% CI 5.1-6.2) AIDS events per 1000 PY. The majority of PLHIV was virally suppressed at the time of the event. Oesophageal candidiasis and wasting syndrome were the most frequently diagnosed AIDS-defining illnesses. We found a low CD4 count at ART initiation, a previous AIDS-defining condition and transmission through intravenous drug use to be meaningful prognostic factors of the outcome. The overall rate of AIDS-defining events among PLHIV under long-term ART was low, highlighting the importance of continuous treatment. PLHIV who started ART with indicators of impaired immune functioning were more susceptible to disease progression, suggesting that the public health response should continue to focus on early and sustained treatment for all PLHIV.

Subtype Transdifferentiation in Human Cancer: The Power of Tissue Plasticity in Tumor Progression.

The classification of tumors into subtypes, characterized by phenotypes determined by specific differentiation pathways, aids diagnosis and directs therapy towards targeted approaches. However, with the advent and explosion of next-generation sequencing, cancer phenotypes are turning out to be far more heterogenous than initially thought, and the classification is continually being updated to include more subtypes. Tumors are indeed highly dynamic, and they can evolve and undergo various changes in their characteristics during disease progression. The picture becomes even more complex when the tumor responds to a therapy. In all these cases, cancer cells acquire the ability to transdifferentiate, changing subtype, and adapt to changing microenvironments. These modifications affect the tumor's growth rate, invasiveness, response to treatment, and overall clinical behavior. Studying tumor subtype transitions is crucial for understanding tumor evolution, predicting disease outcomes, and developing personalized treatment strategies. We discuss this emerging hallmark of cancer and the molecular mechanisms involved at the crossroads between tumor cells and their microenvironment, focusing on four different human cancers in which tissue plasticity causes a subtype switch: breast cancer, prostate cancer, glioblastoma, and pancreatic adenocarcinoma.

C.202G > A/c.376A > G G6PD Polymorphisms Increase the Risk of Fungal Infections in Acute Myeloid Leukemia Patients

Introduction: Patients with acute myeloid leukemia (AML) show a higher risk for several types of infections, including fungal infections (FI), which are one of the main causes of morbidity and mortality. Glucose-6-phosphate dehydrogenase (G6PD) is an enzyme located in all cells that is very necessary in leukocytes for the production of basic and acid proteases that are used to destroy invading microorganisms. Our objective in this study was to evaluate whether polymorphisms in the G6PD gene concomitantly with FI are associated with clinical events and morbidity in patients diagnosed with AML and followed up at the Amazonas State Blood Center (HEMOAM), Manaus, Brazil. Materials and Methods: The study population was randomly constituted of adults and children, of either sex, and any age, with a diagnosis of acute myeloid leukemia, all of whom were undergoing treatment at the HEMOAM. Molecular genotyping was performed using real-time PCR (qPCR) and subsequent Sanger sequencing to confirm the c.202G > A/c.376A > G polymorphisms. Results: A total of 157 patients (91 (58%) males and 66 (42%) females) were involved in the study. The most prevalent AML subtype in the studied group was M3 in 63 patients (40.12%), followed by M5 in 33 patients (21.02%), M2 in 21 patients (13.37%) and M4 in 15 patients (9.55%), with a similar prevalence between genders. The prevalence of fungal infections was identical between genders; however, bruising (p = 0.004), vomiting (p = 0.016) and cardiac alterations (p < 0.001) were higher in females, while persistent cough (p = 0.049) and diarrhea (p < 0.001) were higher in males. A total of eighteen patients presents G6PD polymorphisms, with 8 (5.1%) of these for c.202GA/AA, 18 (11.5%) for c.376AG/GG and 4 (2.5%) for both polymorphisms concomitantly (c.202AA/c.376GG). However, the prevalence of death in patients affected with FI was much higher in those that have these polymorphisms (p < 0.001). Conclusion: We believe that the determination of G6PD polymorphisms will allow the development of monitoring strategies, and aid in early diagnosis and the appropriate and targeted treatment for AML. In addition, evaluating their activity may help to identify AML patients at a higher risk of FI, thus allowing the design of more intensive therapeutic and surveillance strategies.

(280) Innovative Team Approach to Sexual Health Counseling; Partnership of Urology, Infectious Disease and Pelvic Floor Therapy to Increase Access to Care

Abstract Introduction Despite the prevalence and availability of HIV (Pre-exposure Prophylaxis i.e., PrEP), the number of new AIDS diagnoses continues to outpace treatment and prevention. Stigma, discrimination, lack of access continue to remain significant barriers in the prevention of new HIV infections, especially amongst vulnerable groups (i.e. LGBTQ, women, and minorities). We present a novel strategy to address a comprehensive approach to sexual health medicine through the partnership of Urology, Infectious Disease, and Pelvic Floor therapy. Objective Men who have sex with men (M2M) who either currently use or have an interests in use of pre-exposure prophylaxis (PrEP) continue to face barriers with respect to access to care, stigma, and or availability of effective partnerships to address and offer culturally competent care. The objective of this study is to assess attitudes and barriers to conventional and novel PrEP offerings as well as to present an innovative team approach between Urology, Infectious Disease (ID) Medicine and Pelvic Floor Therapy to offer a comprehensive multidisciplinary approach to treatment and care. Methods We enrolled 6 candidates (M2M) into our PrEP clinic which offers the Apretude (Cabotegivir 600 mg/3mL) injections. We conducted interviews, focused groups, and provided questionnaires to detail their experiences, beliefs, attitudes, barriers, and considerations for therapy. Results First, the preliminary results and findings of our study has shown that the needs, considerations, and beliefs of M2M is more varied, nuanced, and divergent with need to characterize, understand, and offer more specific culturally competent care in Sexual Health Medicine with respect to PrEP. Second, M2M designation does not exclude men from having sex with the opposite gender. These man preferred injectable PrEP option. Third, the partnership of Urology, Infectious Disease and Pelvic Floor Therapy reduced barriers, increased access to care, and decreased stigma as M2M felt more comfortable in the Urological setting. Conclusions M2M patients stated hesitancy, increased stigma and “shame” in going to ID for sexual health. Additionally, for M2M who have sexual partners of the opposite sex this would further increase stigma. Urology practices are accustomed to having discussions surrounding men’s sexual health with reduced stigma. The combination of Infectious Disease has presented an innovative partnership to discuss, prevent, and treat sexuallly transmited infections amongst M2M. Disclosure No.

The Role of New Morphological Parameters Provided by the BC 6800 Plus Analyzer in the Early Diagnosis of Sepsis

Background: Late diagnosis of sepsis is associated with adverse consequences and high mortality rate. The aim of this study was to evaluate the diagnostic value of hematologic research parameters, that reflect the cell morphology of blood cells, available on the BC 6800 plus automated analyzer (Mindray) for the early detection of sepsis. Materials and Methods: A complete blood count (CBC) was performed by Mindray BC 6800 Plus Analyzer in 327 patients (223 with a confirmed diagnosis of sepsis following sepsis-3 criteria, 104 without sepsis), admitted at the Intensive Care Unit of the Novara’s Hospital (Italy) and in 56 patients with localized infection. Results: In univariate logistic regression, age, Hb, RDW, MO#, NMR, NeuX, NeuY, NeuZ, LymX, MonX, MonY, MonZ were associated with sepsis (p < 0.005). In multivariate analysis, only RDW, NeuX, NeuY, NeuZ, MonX and MonZ were found to be independent predictors of sepsis (p < 0.005). Morphological research parameters are confirmed to be predictors of sepsis even when analyzing the group with localized infection. Conclusions: In addition to already established biomarkers and basic CBC parameters, new morphological cell parameters can be a valuable aid in the early diagnosis of sepsis at no additional cost.

A Clinico-Epidemiological Study on Porokeratosis.

Porokeratosis (PK) is a chronic progressive disorder of keratinization characterized clinically by hyperkeratotic papules or plaques surrounded by a threadlike, elevated border that expands centrifugally. Pathogenesis involves heterozygous mutations in mevalonate kinase enzyme. The most common variants are disseminated superficial actinic porokeratosis (DSAP) and PK of Mibelli. All forms show a thin column of parakeratosis, the cornoid lamella, representing the active border. Dermoscopy reveals central brownish discoloration surrounded by a single hypopigmented band and a peripheral 'white track'. Long-standing cases of PK may undergo malignant transformation. UV-protection and topical agents, such as 5-fluorouracil, imiquimod, calcipotriol, tretinoin and oral retinoids are helpful. To study the clinical and epidemiological pattern of PK and the clinico-dermoscopic and histopathological correlation of PK. A prospective cross-sectional study was conducted on the patients attending the dermatology outpatient department (OPD) over 9 months with suspected features of PK. These patients were evaluated clinically and subjected to dermoscopy and histopathology. Statistical Package for the Social Sciences (SPSS) Of 11 patients, there were four (36.36%) males and seven (63.66%) females. The youngest was 18-year-old boy, and the eldest was 63-year-old man. The clinically most common type was PK of Mibelli with five (45.45%) cases. The most common dermoscopic feature observed was double-marginated, white peripheral border. The most common histopathological feature noted was cornoid lamella. PK is a rare skin disorder with a wide spectrum of clinical variants. Dermoscopy and histopathology aid in diagnosis, whereas dermoscopy plays a pivotal role in early and non-invasive diagnosis. Regular follow-up is mandatory to watch for the development of malignancies in a few variants.

Latent Profile Analysis of Cognitive Performance and Depressive Symptoms Among People with HIV.

Depression and cognitive impairment are prevalent conditions among people with HIV (PWH), likely attributable to shared causes and common risk factors. Identifying subtypes of PWH with similar patterns of neurocognitive impairment (NCI) and depressive symptoms may inform development of patient-centered interventions that target-specific profiles. This study aimed to (1) classify PWH based on patterns of domain-specific NCI and depression; and (2) determine the relationship between latent class membership and pertinent clinical characteristics. PWH (N = 580, 86.2% male, 57.1% non-Hispanic White, 69.2% unemployed) completed a comprehensive neuropsychological test battery assessing global and domain-specific cognition. Domain-specific NCI was classified as deficit score >0.5. Participants completed the Beck Depression Inventory-II (BDI-II), and domain-specific BDI-II scores reflecting cognitive, affective, and somatic symptoms were computed. Latent profile analysis (LPA) was used to determine latent subgroups of NCI and depression. The optimal LPA solution consisted of five classes: minimal NCI and minimal depression (Class 1), amnestic and minimal depression (Class 2), severe multi-domain NCI and moderate depression (somatic and affective; Class 3), mild NCI and mild depression (Class 4), and moderate multi-domain NCI and severe depression (Class 5). Despite similar levels of functional impairment, Class 5 had a significant psychiatric profile, whereas Class 3 had a complex medical profile (i.e., higher frailty index, higher medications, greater proportion of AIDS diagnosis). In contrast, Class 1 had the lowest medication use and frailty index, with similar HIV disease characteristics to Classes 3 and 5. Our results suggest there are multiple pathways to cognitive and functional impairment among PWH with co-occurring depression and cognitive impairment, and these groups may respond differently to interventions. Of note, our sample was majority non-Hispanic White and male, which is nonrepresentative of the US population of PWH. Future interventions should consider a more integrated, person-centered approach that addresses cognitive and emotional health to optimize health outcomes in PWH.

Harlequin Ichthyosis: Case series

Objective: Harlequin ichthyosis (HI) is an autosomal-recessive inherited disorder. The incidence is extremely rare and is reported to range from 1/300 000 to 1/1 000 000. Some risk factors include preterm births and consanguinity. Prenatal DNA testing for the ABCA12 mutation aids in diagnosis. Although ultrasonography helps the diagnosis, the diagnostic value of a single ultrasound is low. It is fatal for the affected newborn after the first few days after birth, but few long-term survivals have been recorded. The hallmark of with disease is severely keratinized skin. This study aims to evaluate the prenatal and postnatal outcomes of cases with HI. Study Design: The study includes instances of HI that were diagnosed at the clinic throughout 2018–2023. The week of diagnosis, ultrasonographic findings, week of birth, and findings at the time of delivery for all patients were acquired via electronic reports and archival data. Data regarding the condition of viable fetuses was acquired using telephonic means. Results: The study included a total of five patients. There were prenatal ultrasonography findings in three cases. There were no prenatal ultrasound findings in the remaining two patients. Cordocentesis was applied to a single case using prenatal ultrasound diagnosis, and a normal genetic result was obtained. The remaining two cases refused to opt for the option of prenatal invasive testing. The termination option was not accepted in three cases with an intrauterine diagnosis. Prenatal ultrasonography revealed features showing skin thickening, ectropion, eclabion, oligohydramnios, and fetal growth restriction (FGR). Histological examination results of fetal skin biopsies in three cases showed consistent findings of epidermolytic HI, thus confirming the diagnosis of HI. The histological diagnosis of the remaining two patients was inconclusive. All cases are alive. Conclusion: It is advisable to conduct a methodical evaluation based on the clinical manifestations of the condition during the third trimester of gestation to diagnose HI, particularly in instances where there is no familial predisposition.

Clinical Significance of Elevated KSHV Viral Load in HIV-Related Kaposi's Sarcoma Patients in South Africa.

Kaposi's sarcoma (KS) is an AIDS-defining illness caused by Kaposi's sarcoma-associated herpesvirus (KSHV) predominantly in the context of HIV-related immune suppression. We aimed to explore the usefulness of KSHV DNA viral load (VL) measurement in predicting the severity, response to treatment and outcome of KS. We retrospectively assessed a cohort of KS patients (n = 94) receiving treatment at Groote Schuur Hospital, Cape Town, South Africa. Demographic and clinical data, KS staging and response to treatment were extracted from patient files, while long-term survival was ascertained from hospital records. KSHV serology and VL and hIL-6 were determined empirically from patients' blood. All patients were HIV-positive adults, the majority of whom were on HAART at the time of recruitment. KSHV VL was detectable in 65 patients' blood (median: 280.5/106 cells (IQR: 69.7-1727.3)) and was highest in patients with S1 HIV-related systemic disease (median 1066.9/106 cells, IQR: 70.5-11,269.6). KSHV VL was associated with the S1 stage in a binomial regression controlling for confounders (adjusted odds ratio 5.55, 95% CI: 1.28-24.14, p = 0.022). A subset of six patients identified to have extremely high KSHV VLs was predominantly T1 stage with pulmonary KS, and most had died at follow-up. In our cohort, elevated KSHV VL is associated with systemic HIV-related illness in KS disease. Extremely high KSHV VLs warrant further investigation for patients potentially requiring intensive treatment and investigation for progression or diagnosis of concurrent KSHV lytic syndromes.

Evaluation of Chinese HIV Mobile Apps by Researchers and Patients With HIV: Quality Evaluation Study.

Against the backdrop of globalization, China remains one of the most heavily burdened countries in Asia with regard to AIDS. However, many high-risk groups and patients affected by AIDS may be less likely to actively seek care from medical institutions because of fear of experiencing shame or discrimination. Mobile apps provide a promising avenue for supporting the prevention, diagnosis, and treatment of AIDS. However, a comprehensive systematic evaluation of these mobile apps' functionality and quality has not been conducted yet. This study aims to identify the available mobile apps for AIDS in China, assess and discuss the functional features and quality of these Chinese AIDS mobile apps, and offer decision support for patients and clinical practitioners in accessing high-quality AIDS mobile apps. Furthermore, based on the evaluation results, recommendations for improvement will be provided. A systematic search was conducted on the Qimai app data platform, the Aladdin WeChat applet data platform, and WeChat to identify mobile apps related to AIDS. A snowball sampling method was used to supplement the potentially overlooked apps. The selected mobile apps underwent a rigorous screening process based on unified criteria. Subsequently, assessments were independently undertaken by 3 separate researchers and 2 patients with HIV, using both the Mobile App Rating Scale (MARS) and the User Mobile App Rating Scale (uMARS). Quantitative interpretations of the data were facilitated by the MedCalc statistical software (version 20.217, MedCalc Software). A total of 2901 AIDS mobile apps were included in the study, with 2897 identified through information retrieval and an additional 4 added via snowball sampling. After a rigorous selection process, 21 apps were determined to be usable. Among them, the Hong Feng Wan app achieved the highest combined average score, calculated based on the MARS (3.96, SD 0.33) and uMARS (4.47, SD 0.26). Overall, there was no significant correlation between MARS and uMARS (rapp quality total score=0.41; P=.07; rsubjective quality=0.39; P=.08). A notable issue was the widespread lack of user privacy protection, with only 24% (5/21) of the apps offering this feature. The number of available Chinese AIDS mobile apps is limited, with WeChat applets dominating the market. Nonetheless, the performance of WeChat mini-apps is generally inferior to that of independent apps, and there may be significant discrepancies between assessments conducted by researchers and those provided by genuine end users, emphasizing the necessity of involving real users in the development and evaluation of HIV mobile apps. In addition, developers of these Chinese HIV mobile apps need to devote attention to improving privacy protection mechanisms, in addition to considering the evaluations of researchers and real users. This will help attract more users and increase user loyalty.

Mood Disorder Severity and Subtype Classification Using Multimodal Deep Neural Network Models.

The subtype diagnosis and severity classification of mood disorder have been made through the judgment of verified assistance tools and psychiatrists. Recently, however, many studies have been conducted using biomarker data collected from subjects to assist in diagnosis, and most studies use heart rate variability (HRV) data collected to understand the balance of the autonomic nervous system on statistical analysis methods to perform classification through statistical analysis. In this research, three mood disorder severity or subtype classification algorithms are presented through multimodal analysis of data on the collected heart-related data variables and hidden features from the variables of time and frequency domain of HRV. Comparing the classification performance of the statistical analysis widely used in existing major depressive disorder (MDD), anxiety disorder (AD), and bipolar disorder (BD) classification studies and the multimodality deep neural network analysis newly proposed in this study, it was confirmed that the severity or subtype classification accuracy performance of each disease improved by 0.118, 0.231, and 0.125 on average. Through the study, it was confirmed that deep learning analysis of biomarker data such as HRV can be applied as a primary identification and diagnosis aid for mental diseases, and that it can help to objectively diagnose psychiatrists in that it can confirm not only the diagnosed disease but also the current mood status.

Next Generation Sequencing in presumptive diagnosis of syndromes in childhood retinal dystrophies - case series from India

PurposeChildhood onset retinal dystrophies are heterogeneous group of diseases that include Leber congenital amaurosis (LCA), juvenile retinitis pigmentosa, early onset retinitis pigmentosa (EORP) and Severe Early Childhood Onset Retinal Dystrophy (SECORD) and can present either as an isolated condition or with associated non-ocular features. Genetic testing aids in the differential diagnosis of these conditions, for monitoring and timely management of the systemic manifestations. In this study, we present a case series of childhood onset retinal dystrophies where genetic testing has aided in the diagnosis of syndromic form of inherited retinal degenerations (IRD). MethodsPatients (N = 10) underwent complete ophthalmic examination including slit lamp biomicroscopy and dilated indirect ophthalmoscopy. ERG, fundus photograph and Optical Coherence Tomography was done for all patients if the child cooperated for the same. This was followed by targeted re-sequencing of IRD gene panel, on the Illumina Hiseq 2500 platform. Clinical follow up for other associated systemic features was advised based on the genetic results, for patients who were asymptomatic at the time of genetic diagnosis. The patients were monitored for the same periodically. ResultsMutations were identified in IQCB1, ALMS1, SLC19A2, CNNM4, and VPS13B genes suggested associated syndromes. In all these cases, the ocular phenotype was the first presentation in early infancy and genetic testing for IRD genes suggested syndromic disease. The patients could hence be followed up appropriately for other manifestations. ConclusionsMolecular diagnosis has helped in identifying the associated syndrome in these patients with childhood retinal dystrophies who were asymptomatic for some of the non-ocular features at the time of genetic testing. The patients can be benefitted by frequent clinical surveillance with a scope for effective and timely management of the systemic features wherever applicable.

Role of endoscopic ultrasound in gallbladder and biliary system diseases in patients with normal transabdominal ultrasonography

BackgroundThe clinical management of patients experiencing recurrent abdominal pain resembling biliary-type, but with negative findings on conventional transabdominal ultrasound (TUS), poses a challenge. In recent years, endoscopic ultrasound (EUS) has emerged as a valuable tool for diagnosing gallbladder diseases. This study aims to assess the role of EUS in the evaluation of gallbladder and biliary system diseases specifically in patients with normal transabdominal ultrasonography results.MethodsThis study was a cross-sectional analytic study that enrolled 150 patients with any complaints related to the gallbladder and biliary system necessitating transabdominal ultrasound and endosonography in the period between February 2021 and December 2021.ResultsThe mean age of the studied patients was 46.1 ± 10.3 years; 46.7% were males and 53.3% were females. The main complaint was right abdominal pain in 78.0%; meanwhile, 74.7% had a picture of obstructive jaundice. EUS revealed gallbladder wall thickening in 15 patients (10%), mud and/or small stones inside the gallbladder in 73 patients (48.7%), positive GB mass and/or polyp findings in 30 patients (20%), and biliary lesions such as duct strictures and/or dilatations were detected in 48 patients (32%), while transabdominal ultrasound was normal in all those patients.ConclusionEndoscopic ultrasound (EUS) proves to be a valuable diagnostic modality in patients experiencing biliary-type abdominal pain, despite normal transabdominal ultrasonography results. It not only aids in the accurate diagnosis of underlying conditions but also has the potential to impact the management plan for these patients.

Using Polygenic Risk Scores to Aid Diagnosis of Patients With Early Inflammatory Arthritis: Results From the Norfolk Arthritis Register.

There is growing evidence that genetic data are of benefit in the rheumatology outpatient setting by aiding early diagnosis. A genetic probability tool (G-PROB) has been developed to aid diagnosis has not yet been tested in a real-world setting. Our aim was to assess whether G-PROB could aid diagnosis in the rheumatology outpatient setting using data from the Norfolk Arthritis Register (NOAR), a prospective observational cohort of patients presenting with early inflammatory arthritis. Genotypes and clinician diagnoses were obtained from patients from NOAR. Six G-probabilities (0%-100%) were created for each patient based on known disease-associated odds ratios of published genetic risk variants, each corresponding to one disease of rheumatoid arthritis, systemic lupus erythematosus, psoriatic arthritis, spondyloarthropathy, gout, or "other diseases." Performance of the G-probabilities compared with clinician diagnosis was assessed. We tested G-PROB on 1,047 patients. Calibration of G-probabilities with clinician diagnosis was high, with regression coefficients of 1.047, where 1.00 is ideal. G-probabilities discriminated clinician diagnosis with pooled areas under the curve (95% confidence interval) of 0.85 (0.84-0.86). G-probabilities <5% corresponded to a negative predictive value of 96.0%, for which it was possible to suggest >2 unlikely diseases for 94% of patients and >3 for 53.7% of patients. G-probabilities >50% corresponded to a positive predictive value of 70.4%. In 55.7% of patients, the disease with the highest G-probability corresponded to clinician diagnosis. G-PROB converts complex genetic information into meaningful and interpretable conditional probabilities, which may be especially helpful at eliminating unlikely diagnoses in the rheumatology outpatient setting.

Clinical practice recommendations for the use of next-generation sequencing in patients with solid cancer: a joint report from KSMO and KSP.

In recent years, next-generation sequencing (NGS)-based genetic testing has become crucial in cancer care. While its primary objective is to identify actionable genetic alterations to guide treatment decisions, its scope has broadened to encompass aiding in pathological diagnosis and exploring resistance mechanisms. With the ongoing expansion in NGS application and reliance, a compelling necessity arises for expert consensus on its application in solid cancers. To address this demand, the forthcoming recommendations not only provide pragmatic guidance for the clinical use of NGS but also systematically classify actionable genes based on specific cancer types. Additionally, these recommendations will incorporate expert perspectives on crucial biomarkers, ensuring informed decisions regarding circulating tumor DNA panel testing.

Diagnosis of pathological speech with streamlined features for long short-term memory learning

Background:Pathological speech diagnosis is crucial for identifying and treating various speech disorders. Accurate diagnosis aids in developing targeted intervention strategies, improving patients’ communication abilities, and enhancing their overall quality of life. With the rising incidence of speech-related conditions globally, including oral health, the need for efficient and reliable diagnostic tools has become paramount, emphasizing the significance of advanced research in this field. Methods:This paper introduces novel features for deep learning in the analysis of short voice signals. It proposes the incorporation of time-space and time–frequency features to accurately discern between two distinct groups: Individuals exhibiting normal vocal patterns and those manifesting pathological voice conditions. These advancements aim to enhance the precision and reliability of diagnostic procedures, paving the way for more targeted treatment approaches. Results:Utilizing a publicly available voice database, this study carried out training and validation using long short-term memory (LSTM) networks learning on the combined features, along with a data balancing strategy. The proposed approach yielded promising performance metrics: 90% accuracy, 93% sensitivity, 87% specificity, 88% precision, an F1 score of 0.90, and an area under the receiver operating characteristic curve of 0.96. The results surpassed those obtained by the networks trained using wavelet-time scattering coefficients, as well as several algorithms trained with alternative feature types. Conclusions:The incorporation of time–frequency and time-space features extracted from short segments of voice signals for LSTM learning demonstrates significant promise as an AI tool for the diagnosis of speech pathology. The proposed approach has the potential to enhance the accuracy and allow for real-time pathological speech assessment, thereby facilitating more targeted and effective therapeutic interventions.

Enteric Duplication Cyst –A Rare Congenital Anomaly in Adolescence Presenting as Recurrent Pain Abdomen

Case Report: Presented by Dr. Harleen Bawa and Dr. Parthasarathi Hota, this case involves an 18-year-old male with recurrent abdominal pain, nausea, and fever. Initially suspected of congenital gastrointestinal malformation at 1 year, the patient underwent conservative management until symptoms reappeared. Imaging revealed blind-ended tubular structures attached to the small bowel, prompting further investigation for a definitive diagnosis. Management: An exploratory laparotomy revealed an enteric duplication cyst in the ileal region, 50 cm from the ileocecal junction. Resection of the involved ileum with end-to-end anastomosis was performed. Mesenteric lymphadenopathy and an inflamed appendix were also addressed. Biopsy results indicated changes consistent with chronic appendicitis. In Radiological findings CT images displayed well-defined blind-ended tubular structures arising from the distal ileum, suggesting Meckel’s diverticulum. Fluid density cystic lesions near the duodenum and pancreas raised the possibility of an enteric duplication cyst. Discussion: Enteric duplication cysts, though rare, can manifest with varied symptoms, including recurrent abdominal pain and intestinal obstruction. Imaging techniques such as CT, USG, and technetium pertechnetate scanning aid in diagnosis. Resection of the cyst and adjacent intestine with end-to-end anastomosis is a common surgical approach. The prognosis is excellent when complete excision is possible without compromising intestinal length. Conclusion: Enteric duplication cysts, located along the gastrointestinal tract, may present challenges in diagnosis and management. Surgical intervention, guided by imaging and clinical findings, often leads to favorable outcomes. Awareness of potential complications, such as bowel obstruction and bleeding, is crucial for timely intervention.

A Systematic Review and Meta-Analysis of Artificial Intelligence Tools in Medicine and Healthcare: Applications, Considerations, Limitations, Motivation and Challenges.

Artificial intelligence (AI) has emerged as a transformative force in various sectors, including medicine and healthcare. Large language models like ChatGPT showcase AI's potential by generating human-like text through prompts. ChatGPT's adaptability holds promise for reshaping medical practices, improving patient care, and enhancing interactions among healthcare professionals, patients, and data. In pandemic management, ChatGPT rapidly disseminates vital information. It serves as a virtual assistant in surgical consultations, aids dental practices, simplifies medical education, and aids in disease diagnosis. A total of 82 papers were categorised into eight major areas, which are G1: treatment and medicine, G2: buildings and equipment, G3: parts of the human body and areas of the disease, G4: patients, G5: citizens, G6: cellular imaging, radiology, pulse and medical images, G7: doctors and nurses, and G8: tools, devices and administration. Balancing AI's role with human judgment remains a challenge. A systematic literature review using the PRISMA approach explored AI's transformative potential in healthcare, highlighting ChatGPT's versatile applications, limitations, motivation, and challenges. In conclusion, ChatGPT's diverse medical applications demonstrate its potential for innovation, serving as a valuable resource for students, academics, and researchers in healthcare. Additionally, this study serves as a guide, assisting students, academics, and researchers in the field of medicine and healthcare alike.

SALW-Net: a lightweight convolutional neural network based on self-adjusting loss function for spine MR image segmentation.

Segmentation of intervertebral discs and vertebrae from spine magnetic resonance (MR) images is essential to aid diagnosis algorithms for lumbar disc herniation. Convolutional neural networks (CNN) are effective methods, but often require high computational costs. Designing a lightweight CNN is more suitable for medical sites lacking high-computing power devices, yet due to the unbalanced pixel distribution in spine MR images, the segmentation is often sub-optimal. To address this issue, a lightweight spine segmentation CNN based on a self-adjusting loss function, which is named SALW-Net, is proposed in this study. For SALW-Net, the self-adjusting loss function could dynamically adjust the loss weights of the two branches according to the differences in segmentation results and labels during the training; thus, the ability for learning unbalanced pixels is enhanced. Two separate datasets are used to evaluate the proposed SALW-Net. Specifically, the proposed SALW-Net has fewer parameter numbers than U-net (only 2%) but achieves higher evaluation scores than that of U-net (the average DSC score of SALW-Net is 0.8781, and that of U-net is 0.8482). In addition, the practicality validation for SALW-Net is also proceeding, including deploying the model on a lightweight device and producing an aid diagnosis algorithm based on segmentation results. This means our SALW-Net has clinical application potential for assisted diagnosis in low computational power scenarios.

Trends and the associated factors of optimal immunological response and virological response in late anti-retroviral therapy initiation HIV cases in Taiwan from 2009 to 2020

BackgroundLate cART initiation (CD4 count ≤200 cells/μL or AIDS-defining opportunistic illnesses [AOIs] at cART initiation) impedes CD4 count recovery and virologic suppression after cART initiation. However, studies to evaluate trends of and modifiable factors for optimal immunological response (IR) and virological response (VR) in people living with HIV (PLWH) with late cART initiation with the current HIV treatment strategies are limited. MethodsWe retrospectively identified 475 PLWH with late cART initiation in 2009–2020. Patients were grouped based on the presence of IR (CD4 count ≥200 cells/μL) or VR (plasma viral load [PVL] ≤ 50 copies/mL) within 18 months after cART initiation (403 [84.8%] IR(+) and 72 [15.2%] IR(−); 422 [88.8%] VR(+) and 53 [11.2%] VR(−)). We used Joinpoint regression to identify IR (+) and VR(+) proportion changes. ResultsFrom 2009 to 2020, the proportion of IR(+) patients remained unchanged (75% to 90%, P = 0.102), whereas that of VR(+) patients increased significantly (75% to 95%, P = 0.007). No join point was identified for either IR(+) or VR(+), and the annual percentage change was 0.56% (nonsignificant) and 1.35% (significant) for IR(+) and VR(+), respectively. Compared to IR(−) patients, IR(+) patients were more likely to have a higher pre-cART PVL, to start with a first-line INSTI-based regimen, or to start cART within 14 days of HIV diagnosis but were less likely to have chronic kidney disease, composite AOIs, or a lower pre-cART CD4 count. Compared to VR(−) patients, VR(+) patients were more likely to start a single-tablet regimen but were less likely to have a higher pre-cART PVL. ConclusionsOur study identified several modifiable factors for optimal IR (rapid cART initiation and INSTI-based regimen initiation) and for optimal VR (STR initiation) among late initiators, which may guide early treatment modifications to reduce their AIDS-defining event incidence and mortality.