Screening Programs For Early Detection Research Articles

Ethnic and racialized disparities in the use of screening services for pap smears and mammograms in Canada.

Breast and cervical cancers pose significant health challenges for women globally, emphasizing the critical importance of effective screening programs for early detection. In Canada, despite the implementation of accessible healthcare systems, ethnic and racialized disparities in cancer screening persist. This study aims to assess ethnic and racialized disparities in breast and cervical cancer screening in Canada. Using 2015-2019 data from the Canadian Community Health Survey, we analyzed women aged 18-70 in distinct ethnic and racial groups. The primary outcome was mammography or Papanicolaou test (pap smear). The secondary outcome was time since the last screening. We used weighted multivariable logistic regression to estimate the odds of having a pap smear or mammography across the ethnic and racialized groups, adjusted for relevant covariates. Results were reported as odds ratios (ORs) with 95% confidence intervals (CIs). We included 14,628,067 women of which 72.5% were White, 8.4% Southeast Asian, 4.7% South Asian, 3.4% Indigenous, 2.7% Black, 2.0% West Asian, and 1.6% Latin American. In comparison with the White reference group, a higher odds ratio of not having a pap smear was estimated for the West Asian (5.63; CI 3.85, 8.23), South Asian (5.19; CI 3.79, 7.12), Southeast Asian (4.35; CI 3.46, 5.46), and Black groups (2.62; CI 1.82, 3.78). Disparities in mammography screening were found only for the Southeast Asian group with higher odds of not having screening (1.85; CI 1.15, 2.98) compared to the White reference group. This study reveals significant disparities in pap smear and mammography screenings affecting various ethnic groups, particularly in West Asia, South Asian, and Black communities. These findings underscore the urgent need for targeted interventions, policies, and healthcare strategies to address these gaps and ensure equitable access to essential breast and cervical cancer prevention across all ethnicity.

Screening Programs for Early Detection of CKD: A Systematic Literature Review

Screening Programs for Early Detection of CKD: A Systematic Literature Review

Cervical Cancer Screening: An Analysis of Three Large South African Medical Schemes

Cervical cancer poses a considerable public health challenge in South Africa, necessitating effective screening programs for early detection and prevention. However, the COVID-19 pandemic has disrupted healthcare services, including cervical cancer screening, posing challenges to disease management efforts. This study aimed to assess cervical cancer incidence and screening practices among beneficiaries within three major South African medical schemes, analysing trends from 2017 to 2022. Retrospective data were collected to evaluate incidence rates and screening coverage, considering the impact of the pandemic. Screening coverage declined during the epidemic, recovering in 2021 but declining again in 2022. Different health plans showed a more than forty per cent fall in cervical cancer screening rates between 2021 and 2022, with 2022 having the lowest level, even lower than the COVID-19 era. The trends indicate COVID-19 interruptions have a negative impact post-COVID-19. Recommendations include targeted outreach, telemedicine options, and strengthened collaboration to enhance screening programs and mitigate pandemic-related disruptions. This study contributes valuable insights into cervical cancer management, highlighting the need for proactive measures to ensure the continuity of essential healthcare interventions amid public health emergencies.

The impact of population ageing on the burden of chronic kidney disease.

The burden of chronic kidney disease (CKD) and its risk factors are projected to rise in parallel with the rapidly ageing global population. By 2050, the prevalence of CKD category G3-G5 may exceed 10% in some regions, resulting in substantial health and economic burdens that will disproportionately affect lower-income countries. The extent to which the CKD epidemic can be mitigated depends largely on the uptake of prevention efforts to address modifiable risk factors, the implementation of cost-effective screening programmes for early detection of CKD in high-risk individuals and widespread access and affordability of new-generation kidney-protective drugs to prevent the development and delay the progression of CKD. Older patients require a multidisciplinary integrated approach to manage their multimorbidity, polypharmacy, high rates of adverse outcomes, mental health, fatigue and other age-related symptoms. In those who progress to kidney failure, comprehensive conservative management should be offered as a viable option during the shared decision-making process to collaboratively determine a treatment approach that respects the values and wishes of the patient. Interventions that maintain or improve quality of life, including pain management and palliative care services when appropriate, should also be made available.

Deciphering the Puzzle: Literature Insights on Chlamydia trachomatis-Mediated Tumorigenesis, Paving the Way for Future Research.

Some infectious agents have the potential to cause specific modifications in the cellular microenvironment that could be propitious to the carcinogenesis process. Currently, there are specific viruses and bacteria, such as human papillomavirus (HPV) and Helicobacter pylori, that are well established as risk factors for neoplasia. Chlamydia trachomatis (CT) infections are one of the most common bacterial sexually transmitted infections worldwide, and recent European data confirmed a continuous rise across Europe. The infection is often asymptomatic in both sexes, requiring a screening program for early detection. Notwithstanding, not all countries in Europe have it. Chlamydia trachomatis can cause chronic and persistent infections, resulting in inflammation, and there are plausible biological mechanisms that link the genital infection with tumorigenesis. Herein, we aimed to understand the epidemiological and biological plausibility of CT genital infections causing endometrial, ovarian, and cervical tumors. Also, we covered some of the best suitable in vitro techniques that could be used to study this potential association. In addition, we defend the point of view of a personalized medicine strategy to treat those patients through the discovery of some biomarkers that could allow it. This review supports the need for the development of further fundamental studies in this area, in order to investigate and establish the role of chlamydial genital infections in oncogenesis.

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 10 years 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 10 years 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 53 years (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, such as biobanking, with clinical and imaging data available for analysis. For high-risk families, it may offer a potential for early diagnosis. Collaboration with other national and international registries 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.