Screening Programs For Early Detection Research Articles

The Spanish Familial Pancreatic Cancer Registry (PANGENFAM): a decade follow-up of individuals at high-risk for pancreatic cancer.

The Spanish Familial Pancreatic Cancer Registry (PANGENFAM) was established in 2009 and aims to characterize the genotype and phenotype of familial pancreatic cancer (FPC). Furthermore, an early detection screening program for pancreatic ductal adenocarcinoma (PDAC) is provided to healthy high-risk individuals from FPC and hereditary pancreatic cancer families (first-degree relatives). This article describes our experience over the last 10years in high-risk screening. Hereditary and familial pancreatic cancer families were identified through the oncology and gastroenterology units. High-risk individuals underwent annual screening with endoscopic ultrasound (EUS) and magnetic resonance (MRI) from age 40 or 10years younger than the youngest affected family member. Results: PANGENFAM has enrolled 290 individuals from 143 families, including 52 PDAC cases and 238 high-risk individuals. All high-risk individuals eligible for screening were offered to enter the surveillance program, with 143 currently participating. Pancreatic abnormalities were detected in 94 individuals (median age 53years (29-83), with common findings including cystic lesions and inhomogeneous parenchyma. Imaging test concordance was 66%. Surgical intervention was performed in 4 high-risk individuals following highly suspicious lesions detected by imaging. PANGENFAM is a valuable resource for science innovation, suchas biobanking, withclinical and imaging data available for analysis. For high-risk families, it may offer a potential for early diagnosis. Collaboration with other national and internationalregistries is needed to increase our understanding of the disease biology and to standardize criteria for inclusion and follow-up, optimizing cost-effectiveness and efficacy.

Molecular diagnostics of prostate cancer: impact of molecular tests.

Prostate cancer (PCa) is the second leading cause of cancer-related death among men. Prostate-specific antigen (PSA) testing is used in screening programs for early detection with a consequent reduction of PCa-specific mortality at the cost of overdiagnosis and overtreatment of the nonaggressive PCa. Recently, several assays have been commercially developed to implement PCa diagnosis, but they have not been included in both screening and diagnosis of PCa. This review aims to describe the actual and novel commercially available molecular biomarkers that can be used in PCa management to implement and tailor the screening and diagnosis of PCa.

The Italian registry of families at risk for pancreatic cancer (IRFARPC): implementation and evolution of a national program for pancreatic cancer surveillance in high-risk individuals.

Screening programs for early detection and treatment of pancreatic cancer (PC) and its precursor lesions are increasingly implemented worldwide to reduce disease-specific lethality. Given the relatively low prevalence of the disease, the ideal target of such approaches is an enriched cohort of individuals harboring a lifetime risk of developing PC significantly higher compared to the general population, given either a substantial aggregation of PC cases in their family (i.e. familial pancreatic cancer) or a genomic landscape enriched with pathogenic variants associated with pancreatic carcinogenesis (i.e. mutation carriers). In Italy, a national registry for the census and surveillance of high-risk individuals for PC was launched in 2015, enrolling some 1200 subjects as of today. In this perspective, the scientific background, multi-level structure, and evolution of IRFARPC are outlined, as well as its long-term results, future developments, and areas for improvement.

Prevalence of Latent Tuberculosis Infection Among Nurses Working in Critical Areas at a Tertiary Care Hospital in Riyadh, Saudi Arabia.

Introduction Tuberculosis is a critical health issue worldwide.Most infected persons are asymptomatic and categorized as having a latent tuberculosis infection (LTBI). Healthcare workers (HCWs) are more prone to being infected with tuberculosis and should be enrolled in a screening program for early detection. Objectives The study aims to estimate the prevalence of LTBI among nurses working in critical areas which include adult intensive care units, pediatric intensive care units, emergency departments, oncology departments, dialysis departments, tuberculosis labs, isolation rooms, and cardiac center intensive care units. Methods A record-based cross-sectional survey measured the prevalence of LTBI among nurses working in critical areas at Prince Sultan Military Medical City (PSMMC), Riyadh, Saudi Arabia. We reviewed the occupational health records of all nurses working in critical areas from June 1, 2021, to June 1, 2022. We recorded the data reviewed throughout the year in the Occupational Health Department at PSMMC. We excluded all participants with previously documented positive tuberculin skin test (TST) from the study. We analyzed the sociodemographic data, working years, working location, job title, and TST results. Results We included a total of 771 out of 2025 nurses in this study. Participants were mostly women (88%) and in the 26-35-year age group (67.7%). Most of the participants were originally from the Philippines (66.3%). The overall LTBI prevalence among nurses was 34.5%. The highest prevalence of LTBI was among nurses working in the cardiac intensive care unit (53.5%), and the lowest prevalence was among nurses working in the isolation department (8.9%; p-value <0.0001). Those who worked more in the hospital were significantly more infected with LTBI (p-value <0.04). Conclusion LTBI remains a significant health risk worldwide andin the Middle East as well as among HCWs. This underscores the necessity of comprehensive pre-hiring screening, annual screening, infection control protocols, and active management of HCWs with LTBI.

Abstract A012: The Spanish Familial Pancreatic Cancer Registry (PANGENFAM): Genetic testing and follow-up of high risk individuals

Abstract Introduction: The Spanish familial pancreatic cancer registry (PANGENFAM) was established in 2009, with the main objective to study the genetic and phenotypic characteristics of familial pancreatic cancer families and offer screening of high-risk individuals for early detection. Methods: Targeted panel and exome sequencing of 52 FPC and 33 sporadic PDAC cases was performed to identify genes and novel variants related to PDAC risk. Healthy high-risk relatives of FPC cases enter into a screening that consists of an annual MRI, echo-endoscopy and routine blood tests, which is followed by a biopsy if a suspicious lesion is identified. Results: The registry and associated biobank is maintained thanks to a stable collaboration between the departments of Medical Oncology, Gastroenterology, Radiology General Surgery and Pathology. The registry currently includes over 150 families and 350 individuals, including PDAC cases and high risk individuals. Targeted sequencing analysis of DNA repair genes involved in familial cancer identified pathogenic variants in 7.5% of FPC cases in the MLH1 and CDKN2A genes, likely pathogenic variants were found in 5.7% of cases in the genes MUTYH, TERT and ATM. Likely pathogenic variants were found in 9.4% of sporadic cases in the genes POLQ, CHEK2 and FANCM and no pathogenic variants were identified. By exome sequencing, missense variants with a damaging effect were found in 11 FPC cases, including stop gain, stop loss or frameshift variants in 5 FPC cases (45.45%), affecting WWOX, C2orf83, CYP3A5 and TANGO2. KRAS somatic mutations in codon 12 and 13 were more frequently detected in sporadic PDAC cases (70%) compared to familial cases (16%) via the liquid biopsy. Interestingly, the median overall survival for sporadic and familial PDAC cases in our cohort was 10.2 vs. 21.7 months (p⇒0.01), respectively, even when adjusted for stage at diagnosis and first line adjuvant therapy. From all the families included in the registry, 185 were offered the high-risk screening program for early detection. Currently 129 individuals are actively participating in the screening program, of which, 72% of these individuals have a non-normal looking pancreas via MRI or EUS. The most commonly detected lesions were cysts and IPMN found in 32% and 12% individuals, respectively. Screening has successfully detected and treated solid lesions in 4 high-risk individuals, including 3 early PDAC and 1 neuroendocrine tumor. An additional 11 individuals with lesions with worrisome features are under close follow-up. Conclusions: Panel sequencing has identified pathogenic variants in known familial cancer genes that are also associated with FPC risk. Exome sequencing in panel negative FPC cases has identified novel risk associated genes. The molecular and clinical profile of FPC and sporadic cases are distinct which should be taken into account in the clinic. Citation Format: Emma Melian, Ana García García de Paredes, Mercedes Rodríguez, Jorge Villalón López, María Muñoz, Javier Blaquez, Ignacio Ruz, Alfonso Sanjuanbenito, Eduardo Lobo, Victoria Lopéz, Carmen Guillen Ponce, José Ramón Foruny Olcina, Sergio López Durán, Alfredo Carrato, Julie Earl. The Spanish Familial Pancreatic Cancer Registry (PANGENFAM): Genetic testing and follow-up of high risk individuals [abstract]. In: Proceedings of the AACR Special Conference in Cancer Research: Pancreatic Cancer; 2023 Sep 27-30; Boston, Massachusetts. Philadelphia (PA): AACR; Cancer Res 2024;84(2 Suppl):Abstract nr A012.

“Vaai Ganam” - a screening program for early detection of oral potentially malignant disorders and oral cancer among truck drivers in Chennai – a cross-sectional survey

Introduction: Truck drivers, though forming an integral part of a vital trade link for the Indian population, lack basic life insurance and health care benefits offered by other organized sectors in Indian Industries. This paper aims to present the initial findings of the “VaaiGanam” program which proposes to identify tobacco use and the prevalence of Oral potentially malignant disorders (OPMDs) among truck drivers who are stationed or passing via Chennai and provide cessation services by behavioral therapy. Methods: This cross-sectional study was conducted by a dental screening team who were involved in data collection and screening of the 747 truck drivers who fulfilled the inclusion and exclusion criteria between Jan to Oct 2022. After data collection, oral examinations were done and suspicious lesions were sought for expert opinion. A standard punch biopsy was taken from those lesions requiring confirmation. Results: Among the 747 subjects who participated in this program, 704 (94.2%) were current users of various tobacco products, with 235 (31.4%) preferring smoking and the rest 469(62.8%) using smokeless tobacco products. Oral mucosal lesions were recorded in 49 (6.5%) of the study population, mostly among tobacco users. Punch/incisional biopsies were taken among 17 of the 49 subjects and oral dysplasia was histopathologically confirmed in 9 (mild epithelial dysplasia = 5; moderate epithelial dysplasia = 4) subjects. Conclusion: Truck drivers with tobacco and substance abuse are at high risk of developing oral cancer and hence this study emphasizes the importance of periodic oral cancer screening programs for this vulnerable population to identify potentially malignant oral lesions at an early stage.

Characterizing the secretome of EGFR mutant lung adenocarcinoma.

Lung cancer is the leading cause of cancer related death worldwide, mainly due to the late stage of disease at the time of diagnosis. Non-invasive biomarkers are needed to supplement existing screening methods to enable earlier detection and increased patient survival. This is critical to EGFR-driven lung adenocarcinoma as it commonly occurs in individuals who have never smoked and do not qualify for current screening protocols. In this study, we performed mass spectrometry analysis of the secretome of cultured lung cells representing different stages of mutant EGFR driven transformation, from normal to fully malignant. Identified secreted proteins specific to the malignant state were validated using orthogonal methods and their clinical activity assessed in lung adenocarcinoma patient cohorts. We quantified 1020 secreted proteins, which were compared for differential expression between stages of transformation. We validated differentially expressed proteins at the transcriptional level in clinical tumor specimens, association with patient survival, and absolute concentration to yield three biomarker candidates: MDK, GDF15, and SPINT2. These candidates were validated using ELISA and increased levels were associated with poor patient survival specifically in EGFR mutant lung adenocarcinoma patients. Our study provides insight into changes in secreted proteins during EGFR driven lung adenocarcinoma transformation that may play a role in the processes that promote tumor progression. The specific candidates identified can harnessed for biomarker use to identify high risk individuals for early detection screening programs and disease management for this molecular subgroup of lung adenocarcinoma patients.

Symptom-related screening programme for early detection of chronic thromboembolic pulmonary hypertension after acute pulmonary embolism: the SYSPPE study

BackgroundChronic thromboembolic pulmonary hypertension (CTEPH) is the most severe long-term complication of acute pulmonary embolism (PE). We aimed to evaluate the impact of a symptom screening programme to detect CTEPH...

A Study of Glucose-6-Phosphate Dehydrogenase Deficiency among Children attending the Emergency Hospital in Zakho City Kurdistan Region, Iraq

Background: G6PD deficiency, which affects 400 million individuals globally, is an X-linked hereditary enzymopathy that causes acute hemolysis after exposure to specific oxidative agents such as fava beans, more than 37 drugs, and infections viral or bacterial. Neonatal jaundice worsened by kernicterus is one of the condition's significant consequences. It can be prevented by avoiding the oxidative factors that cause a hemolytic episode alongside neonatal screening programs for early detection of afflicted individuals. Objectives: This research aimed at investigating the variability in clinical and biochemical manifestations among children with G6PDD. This is the first study to be carried out in the Zakho area. Methods: A cross-sectional study was used, recruiting 112 children attending Zakho Emergency Hospital from January 2022 to April 2023. Laboratory aids involved in obtaining CBC, liver enzyme activities, and blood grouping were all investigated. The IBM SPSS 26 program was used to analyze the obtained data. Results: There was no statistically significant difference between male and female patients in terms of age, time of admission, hemoglobin level, WBC count, and liver enzymes. The majority of cases who visited Zakho Emergency Hospital within 72 hours of exposure to the triggering agent were males (67.9%), with the most common clinical features being jaundice, dark urine, and abdominal pain. Conclusion: In this study, the three main symptoms in G6PD deficient patients with acute hemolysis were pallor, jaundice, and black urine. These signs appeared several hours or even days after consuming fava beans. The primary clinical symptoms and the patient's gender, family history, or prior newborn jaundice were not related, according to our research.

Lynch Syndrome – An Overview of the Worldwide Management of This Silent Killer Within Our Genes

"Lynch syndrome, also known as hereditary non-polyposis cancer syndrome, represents the most common autosomal dominant genetic predisposition for the early onset development of several malignancies. Nearly three decades ago, the discovery of microsatellite instability, a distinctive feature of pathogenic variants within genes encoding mismatch repair proteins, marked a significant leap forward in understanding cancer biology and the underlying spectrum of cancers triggered by these mutations – typical of Lynch syndrome. In recent years, a new treatment paradigm, using immune checkpoint inhibitors, as well as preventive measures has drastically improved the survival rates. Identifying individuals with an inherent predisposition to cancer, through diagnostic protocols followed by personalized screening and treatment algorithms, holds the potential to mitigate premature cancer-related fatalities as well as preventable mortality. It is estimated that only a limited number of patients have been diagnosed, underscoring the importance of implementing specific screening programs for early detection of malignancies to which these patients are susceptible. This article aims to underline the importance of a national protocol tailored to guide a Western-inspired practice for Lynch syndrome patient management, the main aim of the Romanian Society for Lynch Syndrome, by providing an overview of similar initiatives throughout the world."

Determining the clinical utility of a breath test for screening an asbestos-exposed population for pleural mesothelioma: baseline results

Pleural mesothelioma (PM) is an aggressive cancer of the serosal lining of the thoracic cavity, predominantly caused by asbestos exposure. Due to nonspecific symptoms, PM is characterized by an advanced-stage diagnosis, resulting in a dismal prognosis. However, early diagnosis improves patient outcome. Currently, no diagnostic biomarkers or screening tools are available. Therefore, exhaled breath was explored as this can easily be obtained and contains volatile organic compounds, which are considered biomarkers for multiple (patho)physiological processes. A breath test, which differentiates asbestos-exposed (AEx) individuals from PM patients with 87% accuracy, was developed. However, before being implemented as a screening tool, the clinical utility of the test must be determined. Occupational AEx individuals underwent annual breath tests using multicapillary column/ion mobility spectrometry. A baseline breath test was taken and their individual risk of PM was estimated. PM patients were included as controls. In total, 112 AEx individuals and six PM patients were included in the first of four screening rounds. All six PM patients were correctly classified as having mesothelioma (100% sensitivity) and out of 112 AEx individuals 78 were classified by the breath-based model as PM patients (30% specificity). Given the large false positive outcome, the breath test will be repeated annually for three more consecutive years to adhere to the ‘test, re-test’ principle and improve the false positivity rate. A low-dose computed tomography scan in those with two consecutive positive tests will correlate test positives with radiological findings and the possible growth of a pleural tumor. Finally, the evaluation of the clinical value of a breath-based prediction model may lead to the initiation of a screening program for early detection of PM in Aex individuals, which is currently lacking. This clinical study received approval from the Antwerp University Hospital Ethics Committee (B300201837007).

Renal Disease in Bangladesh Perspective

Bangladesh is one of the most densely populated areas in the world. Renal diseases are increasingly recognized and encompasses a large share of the health sector. About 20 million people are suffering from chronic kidney disease, and of them, approximately 35,000–40,000 develop endstage renal disease each year. Chronic glomerulonephritis, diabetes mellitus and hypertension are the principal causes of chronic kidney disease. Hypovolemia, sepsis, obstetric complications and drugs (including herbal and homeopathic remedies) are common causes of acute kidney injury. All three renal replacement therapy modalities (hemodialysis, peritoneal dialysis and renal transplantation) are performed in Bangladesh, yet only 25% of end-stage renal disease patients have access to treatment due to inadequate facilities and high healthcare costs. Nephrology as a specialty started its journey in 1973 in Bangladesh and now about 300 Nephrologists are managing the subject. Still there is huge need for more Nephrologists, as only one nephrologist is available for about every 0.8 million people. The country has improved financially from low- to low-middleincome country. Health sector is also more improving gradually. The government is now setting up renal care at rural level, introducing screening programs for early detection and prevention of kidney and other noncommunicable diseases. At the same time steps are under way to improve the advanced renal services at secondary and tertiary health institutes. Kidney transplantation started in 1982 and only live related transplantation are being done in several government and private organization. ABO-incompatible kidney transplantation has already been performed. Recently decease renal transplantation has also been performed. Research and training opportunities are expanding in collaboration with international organizations. Renal services appears up to date in this country but needs more and more enhancement to cope up the ever increasing burden.&#x0D; Bangladesh J Medicine 2023; 34(3): 180-185

Evaluation of the implementation of screening programs for early detection of breast and cervical cancer in the Gomel region

Objective. Conduct a comprehensive assessment of the indicators of screening programs for early detection of breast and cervical cancer in the Gomel region.Materials and methods. A total of 7,611 first-time detected cases of breast cancer and 1,370 cases of cervical cancer in the Gomel region were analyzed for the period 2012-2022 (according to Belarusian Cancer Registry). The results of examination of 105130 participants of the screening program for early detection of breast cancer and 70258 participants of the screening program for early detection of cervical cancer were analyzed.Results. During the period 2017-2022, due to screening, 12% of cases of breast cancer were detected from the total number of newly diagnosed malignant breast pathologies. From 2018 to 2022, the proportion of newly detected cases of cervical cancer within the screening program increased from 0.83% to 2.61%, which indicates that the introduction of the screening program contributes to an increase in the detection of precancerous conditions of the cervix.Conclusions. The screening program for breast cancer and cervical cancer has shown its effectiveness in detecting new cases of malignant neoplasms of these localizations. An important result of the screening conducted in the Gomel region is the fact that the observed trend towards a decrease in the detection of breast cancer and cervical cancer in the early stages does not give any cause for optimism, as this is evidence of a deterioration in the structure of the detected pathology.

Methylmalonic acidemia: A Rare Case Report from Rural India

Methylmalonic acidemia is an autosomal recessive disorder of amino acid metabolism, involving a defect in the conversion of methylmalonyl-coenzyme A (CoA) to succinyl-CoA. Patients typically present at the age of 1 month to 1 year since symptoms usually do not present themselves until proteins are added to the infant's diet. We report a case of 4.5-month-old male, was brought to the hospital by the relatives with a history of GTCS type of convulsions. Child suspected to have been diagnosed with inborn errors of metabolism so workup for the same done and patient diagnosed with methylmalonic acidemia. Many cases of inborn error of metabolism are asymptomatic and undetected. This case highlights the importance of considering methylmalonic academia in newborn screening program for early detection and timely intervention, which help to improve survival and prevent children from developmental and metabolic abnormalities.

Diagnosis of Congenital Hypothyroidism by Analysis of Medical Records

Congenital hypothyroidism is one of the causes of mental retardation in children that can be prevented if recognized and treated early. Thyroid hormones play a role in the development of the central nervous system. It is known that 95% of CH do not show typical clinical signs and symptoms at birth and the duration of early intervention to prevent mental retardation is short. Therefore, most developed countries have conducted neonatal screening programs for early detection of CH. The purpose of this study was to determine the diagnosis and management of congenital hypoteroid based on medical record analysis. This research method is a cross-sectional descriptive study with a quantitative approach to patient medical records. Data were analyzed in accordance with the standard diagnosis and management of congenital hypoteroid issued by the Pediatric Association in 2017. The clinical practice guidelines explain that congenital hypothyroidism can be transient or permanent and is classified according to the location of the disorder: primary (in the thyroid gland) or secondary (in the pituitary and/or hypothalamus); severity of hypothyroidism: (serum TSH levels &gt; 100 mIU/L are considered severe; and age of onset of hypothyroidism. The most common form is permanent primary CH (high serum TSH levels) due to thyroid dysgenesis. Permanent CH requires lifelong treatment while transient CH does not. The results of the study have met clinical guidelines, namely CH screening in newborns is positive if the TSH level is ≥ 20 mU/L. Infants with positive screening results must be confirmed by re-checking serum TSH and FT4. The diagnosis of CH is made when TSH levels are high and FT4 is low. In non-screened infants, the diagnosis is made through clinical symptoms and serum TSH and FT4 examination.

Possibilities of early diagnosis of localized prostate cancer in outpatient practice of a urologist at the regional level in the stavropol territory

Aim. To develop and implement an algorithm for early diagnosis of a localized form of prostate cancer based on the determination of the specificity of the prostate-specific antigen (PSA) marker in different age groups.Materials and methods. In the framework of a screening program for early detection of diseases of the urogenital system developed at the Stavropol Regional Clinical Specialized Uroandrological Center, middle-aged and elderly men were examined using the following characteristics: IPSS (International Prostate Symptom Score), serum PSA level, digital rectal exam, transrectal prostate ultrasound, urodynamic tests, as well as transrectal ultrasound-guided prostate biopsy in cases of elevated total PSA. The data (for 2010–2021) on the frequency of detection of localized prostate cancer depending on patient age (40–59 years, 60–69 years, ³70 years) and total PSA level were analyzed.Results. With an increase in total blood PSA &gt;4 ng/ml, there is a clear trend towards a decrease in the detection of benign prostatic hyperplasia and an increase in the detection of adenocarcinoma, which is confirmed by the data of histological examinations of biopsy specimens. In 81 % of cases, transrectal multifocal biopsy of the prostate gland (adenocarcinoma and prostatic intraepithelial neoplasia was detected) under transrectal ultrasound control is justified, including when PSA values are in the “gray zone”, which shows a rather high value of this method.Conclusion. Total serum PSA level is a readily available indicator for differential diagnosis of prostate diseases including detection of localized prostate cancer in out-patient conditions. The obtained data points at high specificity of this marker in men over 40 years old. Measurement of serum PSA level at the age of 40–49 years is necessary for early detection of oncological pathology. For total serum PSA level &gt;4 ng/mL, mandatory transrectal multifocal prostate biopsy is recommended at any age.

NATIONAL SCREENING PROGRAM FOR COLORECTAL CANCER

Colorectal Cancer:Colorectal cancer is one of the preventable cancers in humans. From a simple polyp to cancer, it is a long journey and gives us a window of opportunity to intervene and prevent it. Historically, Pakistan has been considered a low-prevalence country for colorectal cancer but changing epidemiological patterns dictate that we should think of implementing bowel screening programs for early detection and risk reduction. More than 1.9 million new colorectal cancer (including anus) cases and 935,000 deaths were estimated to occur in 2020, representing about one in 10 cancer cases and deaths. (Globocan 2020). Colorectal Cancer is the 3rd most common cancer among men and 2nd most common cancer among women, worldwide. (1). CRC mortality rates have been declining in the USA and Canada, whereas in many countries like Latin America and the Caribbean (LAC), the mortality rates are increasing. This difference between Canada and the US with the rest of the countries in the Americas serves as an indication of differences that may exist in health care, including CRC screening, early detection, and treatment. There are perhaps lessons that can be learned from the USA and Canada experiences with CRC programs that can be used to address the growing burden of CRC in LAC&#x0D;

DeepMiCa: Automatic segmentation and classification of breast MIcroCAlcifications from mammograms

Background and objectiveBreast cancer is the world’s most prevalent form of cancer. The survival rates have increased in the last years mainly due to factors such as screening programs for early detection, new insights on the disease mechanisms as well as personalised treatments. Microcalcifications are the only first detectable sign of breast cancer and diagnosis timing is strongly related to the chances of survival. Nevertheless microcalcifications detection and classification as benign or malignant lesions is still a challenging clinical task and their malignancy can only be proven after a biopsy procedure. We propose DeepMiCa, a fully automated and visually explainable deep-learning based pipeline for the analysis of raw mammograms with microcalcifications. Our aim is to propose a reliable decision support system able to guide the diagnosis and help the clinicians to better inspect borderline difficult cases. MethodsDeepMiCa is composed by three main steps: (1) Preprocessing of the raw scans (2) Automatic patch-based Semantic Segmentation using a UNet based network with a custom loss function appositely designed to deal with extremely small lesions (3) Classification of the detected lesions with a deep transfer-learning approach. Finally, state-of-the-art explainable AI methods are used to produce maps for a visual interpretation of the classification results. Each step of DeepMiCa is designed to address the main limitations of the previous proposed works resulting in a novel automated and accurate pipeline easily customisable to meet radiologists’ needs. ResultsThe proposed segmentation and classification algorithms achieve an area under the ROC curve of 0.95 and 0.89 respectively. Compared to previously proposed works, this method does not require high performance computational resources and provides a visual explanation of the final classification results. ConclusionTo conclude, we designed a novel fully automated pipeline for detection and classification of breast microcalcifications. We believe that the proposed system has the potential to provide a second opinion in the diagnosis process giving the clinicians the opportunity to quickly visualise and inspect relevant imaging characteristics. In the clinical practice the proposed decision support system could help reduce the rate of misclassified lesions and consequently the number of unnecessary biopsies.

Early neonatal presentation of methylmalonic aciduria: a case report from rural central India

Methylmalonic aciduria (MMA) is an inborn error of metabolism that results in accumulation of methylmalonic acid in blood and increased excretion in urine. They are characterized by impaired conversion of methymalonyl CoA to succinyl CoA by the enzyme methylmalonyl CoA mutase resulting in accumulation of metabolites of branched chain amino acid catabolism. MMA has a wide clinical spectrum, ranging from a benign condition to fatal neonatal disease. Its onset ranges from the neonatal period to adulthood. We report a case of a day 4 old male child who presented with the complaints of respiratory distress, poor feeding, and excessive crying. Mother had a history of previous neonatal loss on day 3 of life. Diagnosis of MMA was made with the help of clinical presentation and laboratory investigations. At present universal newborn screening for metabolic disorders is not done routinely in India. Diagnosing and managing IEM in India and other developing countries is a challenge since most of the classic metabolic test are not routinely available. Many cases are asymptomatic and undetected and hence we report this case to stress the importance of including MMA in newborn screening programme for early detection and intervention.

Lung cancer management in low and middle-income countries - current challenges and potential solutions

Lung cancer is the second-most prevalent cancer and, the most common cause of cancer-related mortality throughout the world. Evidence-based strategies to decrease its incidence and mortality are being implemented in different parts of the world. Smoking cessation policies are being actively publicized to decrease the incidence of tobacco related cancers including lung cancer. Screening program for early detection of localized lung cancer which can then be targeted by a multimodality approach utilizing surgery, radiation, chemoimmunotherapy to achieve cure is now becoming the standard in several high-income countries. Precision medicine in lung cancer is booming with metastatic non-curative cancers targeted with small molecule tyrosine kinase inhibitors. However, these advancements are not available all around the world. Inequalities exist in the management of lung cancer, mostly driven by the economic differences between the countries. Raising awareness to these international barriers is pivotal for improving lung cancer related incidence and mortality.