Clinical Guidelines For Diagnosis Research Articles

Guidelines for clinical diagnosis and treatment of advanced triple negative breast cancer in China（2024 edition）

Breast cancer ranks as the most common female malignancy worldwide. Data from GLOBOCAN 2020 showed that breast cancer surpassed lung cancer and become the leading malignancy globally which was a serious threat to women's health. Different from Caucasian, there is a lower prevalence of breast cancer in Chinese women. But the age-standardized incidence rate of breast cancer in China has reached to 39.1 per 100,000 in 2020, with 416,000 new cases, accounting for 18.4% of global breast cancer burden, due to multiple factors such as lifestyle and dietary habits changes in recent years[1]. The treatment and prevention of breast cancer are becoming increasingly a tuff task. In addition, triple-negative breast cancer (TNBC) is a subtype with higher malignancy and worse prognosis. Due to lack of specific therapeutic targets, less treatment progress has been made in recent years. There is even less progress in the therapy of advanced TNBC, but huge unmet needs exist for further therapeutic optimization. Echoing advocacy from The Society of Breast Cancer China Anti-Cancer Association; International Medical Exchange Society, Chinese Anti-Cancer Association; Breast Cancer Group, Branch of Oncologist, Chinese Medical Doctor Association, top experts from multidisciplinary departments of breast cancer in China have consensus on this "Guidelines for Clinical Diagnosis and Treatment of Advanced Triple-Negative Breast Cancer in China (2024 Edition)" according to the latest evidence based updates. We hope this pater can guide or optimize the precise therapeutic decision-making for advanced triple-negative breast cancer in China.

Clinical guidelines for diagnosis and treatment of cervical spondylotic myelopathy with the integrated traditional Chinese and Western medicine(2023)

The "Clinical Guidelines for Diagnosis and Treatment of Cervical Spondylotic Myelopathy with the Integrated Traditional Chinese and Western Medicine" were formulated by the Orthopedic and Traumatology Professional Committee of the Chinese Association of Integrative Medicine in accordance with the principles of evidence-based medicine and expert consensus, and provide clinicians with academic guidance on clinical diagnosis and treatment of CSM. The main content includes diagnostic points, disease grading assessment, TCM syndrome differentiation, surgical indications and timing, integrated traditional Chinese and Western medicine treatment, and postoperative rehabilitation. This guideline proposes for the first time that the treatment of CSM should follow the principle of grading, clarify the timing and methods of surgical treatment, establish common TCM syndrome differentiation and classification, attach importance to postoperative integrated rehabilitation of Chinese and Western medicine, and strengthen daily follow-up management. It hopes to promote the standardization, effectiveness, and safety of clinical treatment of CSM.

Clinical Guidelines for Diagnosis and Management of Cowden Syndrome/PTEN Hamartoma Tumor Syndrome in Children and Adults-Secondary Publication.

Cowden syndrome (CS)/PTEN hamartoma tumor syndrome (PHTS) is a rare autosomal dominantly inherited condition caused by germline pathogenesis. It is associated with multiple hamartomatous lesions occurring in various organs and tissues, including the gastrointestinal tract, skin, mucous membranes, breast, thyroid, endometrium, and brain. Macrocephaly or multiple characteristic mucocutaneous lesions commonly develop in individuals in their 20s. This syndrome is occasionally diagnosed in childhood due to the occurrence of multiple gastrointestinal polyps, autism spectrum disorders, and intellectual disability. CS/PHTS can be diagnosed taking the opportunity of multigene panel testing in patients with cancer. Appropriate surveillance for early diagnosis of associated cancers is required because patients have a high risk of cancers including breast, thyroid, colorectal, endometrial, and renal cancers. Under these circumstances, there is growing concern regarding the management of CS/PHTS in Japan, but there are no available practice guidelines. To address this situation, the guideline committee, which included specialists from multiple academic societies, was organized by the Research Group on Rare and Intractable Diseases granted by the Ministry of Health, Labour, and Welfare, Japan. The present clinical guidelines explain the principles in the diagnosis and management of CS/PHTS, together with four clinical questions and the corresponding recommendations, incorporating the concept of the Grading of Recommendations Assessment, Development, and Evaluation system. Herein, we present an English version of the guideline, some of which have been updated, to promote seamless implementation of accurate diagnosis and appropriate management of pediatric, adolescent, and adult patients with CS/PHTS.

Acromegaly screening in patients with hyperprolactinemia and pituitary adenoma

Hyperprolactinemia accompanies growth hormone hypersecretion in approximately 25-39% of cases. There is a recommendation to determine the level of prolactin in clinical guidelines for diagnosis and treatment of acromegaly. However, there is no understanding of the necessity to investigate the IGF-1 level in patients with hyperprolactinemia and a pituitary adenoma. Determining the proportion of patients with hyperprolactinemia and pituitary adenoma, who were examined for IGF-1 levels, and identifying the proportion of patients with acromegaly among this cohort. Between December 2019 and December 2022 a single-center observational single-stage single-sample uncontrolled study was conducted. At the first stage of the study, the proportion of patients with pituitary adenoma and hyperprolactinemia with studied IGF-1 levels was determined, according to medical records. At the second stage of the study, patients without known indicators of IGF-1 were determined. The concentration of growth hormone was studied during the oral glucose load in the case of increased IGF-1 levels. At the first stage, 105 patients were included in the study. The level of IGF-1 was determined in 41/105 (39%) cases. There were 22/41 (53.7%) cases in the subgroup with pituitary incidentalomas and 19/64 (29.7%) cases in the subgroup with hyperprolactinemia among them. At the second stage, the IGF-1 level was additionally determined in 53 patients with hyperprolactinemia and pituitary adenoma (total 94 patients). The level of IGF-1 was elevated in 11/94 patients, further acromegaly was confirmed in 3/94 patients (3.2%). In real clinical practice the level of IGF-1 is studied only in 39% of cases in patients with pituitary adenoma and hyperprolactinemia. The disease was detected in 3 cases (3.2%) out of 94 people with hyperprolactinemia and pituitary adenoma without clinical manifestations of acromegaly. We consider the study of IGF-1 levels justified as a screening for acromegaly in patients with hyperprolactinemia and pituitary adenoma.

Clinical Guidelines for Diagnosis and Management of Juvenile Polyposis Syndrome in Children and Adults-Secondary Publication.

Juvenile polyposis syndrome (JPS) is a rare disease characterized by multiple hamartomatous polyps within the gastrointestinal tract. SMAD4 or BMPR1A is known as a causative gene of JPS. Approximately 75% of newly diagnosed cases have an autosomal-dominantly inherited condition, whereas 25% are sporadic without previous history of polyposis in the family pedigree. Some patients with JPS develop gastrointestinal lesions in childhood and require continuous medical care until adulthood. JPS is classified into three categories according to phenotypic features of polyp distributions, including generalized juvenile polyposis, juvenile polyposis coli, and juvenile polyposis of the stomach. Juvenile polyposis of the stomach is caused by germline pathogenic variants of SMAD4 with a high risk leading to gastric cancer. Pathogenic variants of SMAD4 are also associated with hereditary hemorrhagic telangiectasia-JPS complex, inducing regular cardiovascular survey. Despite growing concerns regarding the managing JPS in Japan, there are no practical guidelines. To address this situation, the guideline committee was organized by the Research Group on Rare and Intractable Diseases granted by the Ministry of Health, Labor and Welfare involving specialists from multiple academic societies. The present clinical guidelines explain the principles in the diagnosis and management of JPS with three clinical questions and corresponding recommendations based on a careful review of the evidence and involve incorporating the concept of the Grading of Recommendations, Assessment, Development, and Evaluation system. Herein, we present the clinical practice guidelines of JPS to promote seamless implementation of accurate diagnosis and appropriate management of pediatric, adolescent, and adult patients with JPS.

Guidelines for clinical diagnosis and treatment of advanced breast cancer in China (2022 edition)

Breast cancer is the most common malignant tumor among women all over the world. In 2020, there were about 416 000 new cases, and more than 117 000 deaths of breast cancer in Chinese female. Of the new cases of breast cancer each year, about 3% to 10% of patients have distant metastasis at the time of diagnosis. Of the early-stage patients, about 30% developed into advanced breast cancer. The 5-year survival rate of advanced breast cancer was only 20%, and the median overall survival was 2-3 years. Although advanced breast cancer is difficult to cure at present, we can alleviate the clinical symptoms of patients, improve their quality of life and further prolong their survival time by applying new therapeutic drugs and optimizing treatment models, to achieve the purpose of long-term survival with tumor. It is very important for patients with advanced breast cancer to choose the reasonable treatment plan, and because of the lack of standard recommendation for the treatment of advanced breast cancer after the first- and second-line rescue therapies, according to the research progress of breast cancer at home and abroad and the update of real-world clinical data, the Chinese expert group analyzed, discussed and summarized the relevant research data, updated the diagnosis, treatment and prognosis of inoperable locally advanced and recurrent or metastatic breast cancer on the basis of the 2020 edition, and formulated the "Guidelines for clinical diagnosis and treatment of advanced breast cancer in China (2022 edition)" for clinicians' reference.

Clinical guidelines for diagnosis, treatment and monitoring of patients with invasive breast cancer – Croatian Oncology Society (BC-3 COS)

Clinical guidelines for diagnosis, treatment and monitoring of patients with invasive breast cancer – Croatian Oncology Society (BC-3 COS)

Rethinking of surgical indications for pancreatic cystic tumors

With the progress of imaging technology and the popularization of healthy examination, the detection rate of pancreatic cystic neoplasm(PCN) has increased significantly. PCN has complex disease spectrum, strong heterogeneity, and diverse surgical treatment strategies. Surgical timing and methods directly affect patients' prognosis. Therefore, how to identify malignant tumors and formulate reasonable treatment strategies are the keys to treat PCN. Many guidelines for clinical diagnosis and treatment of PCN have been released, but there are still many disputes about its surgical indications. Hence, fully assessing the surgical indications is of great significance to improve the PCN patients' prognosis. This paper deeply discusses on the surgical indications of PCN by reviewing the current clinical diagnosis, treatment and research progress of PCN, in order to standardize the diagnosis and treatment of PCN.

Clinical guidelines for diagnosis, management and follow-up of patients with eosinophilic esophagitis*

Clinical guidelines for diagnosis, management and follow-up of patients with eosinophilic esophagitis*

Clinical guidelines for diagnosis, treatment and monitoring of patients with cervical cancer

Clinical guidelines for diagnosis, treatment and monitoring of patients with cervical cancer

Clinical guidelines for diagnosis, treatment and monitoring of patients with ovarian cancer, Fallopian tube cancer and primary peritoneal can

Clinical guidelines for diagnosis, treatment and monitoring of patients with ovarian cancer, Fallopian tube cancer and primary peritoneal can

Clinical guidelines for diagnosis, treatment and monitoring of patients with malignant tumors of uterine corpus

Clinical guidelines for diagnosis, treatment and monitoring of patients with malignant tumors of uterine corpus

Clinical guidelines «Children with diabetes mellitus type 1, 2020”: what a pediatrician needs to know

A group of experts, leading Russian specialists in the field of pediatric endocrinology prepared updated clinical guidelines for the diagnosis and treatment of type 1 diabetes mellitus in children. The article presents the main provisions of clinical guidelines for diagnosis and differential diagnosis, treatment, organization of medical care, specific and acute complications in children with type 1 diabetes mellitus. These clinical recommendations and concerted actions in practical work will allow pediatricians and pediatric endocrinologists to improve the diagnosis, treatment and quality of medical care for children with type 1 diabetes.

Stroke-Like Episodes in PMM2-CDG: When the Lack of Other Evidence Is the Only Evidence.

Phosphomannomutase 2 deficiency (PMM2-CDG) is the most frequent congenital disorder of glycosylation. PMM2-CDG patients develop chronic cerebellar atrophy as a neurological hallmark. However, other acute neurological phenomena such as stroke-like episodes (SLE), epilepsy, migraine, and cerebrovascular events, may also occur, and they are frequently the cause of disability and impaired quality of life. Among these, SLE are among the most stressful situations for families and doctors, as their risk factors are not known, their underlying pathomechanisms remain undiscovered, and clinical guidelines for diagnosis, prevention, and treatment are lacking. In this paper, the recent SLE experiences of two PMM2-CDG patients are examined to provide clinical clues to help improve diagnosis through a clinical constellation of symptoms and a clinical definition, but also to support a neuroelectrical hypothesis as an underlying mechanism. An up-to-date literature review will help to identify evidence-based and non-evidence-based management recommendations. Presently neuropediatricians and neurologists are not capable of diagnosing stroke-like episodes in an unequivocal way, so there is still a need to perform invasive studies (to rule out other acute diseases) that may, in the end, prove unnecessary or even harmful. However, reaching a correct and early diagnosis would lead not only to avoidance of invasive tests but also to better recognition, management, and understanding of the disease itself. There is a great need for understanding of SLE that may ultimately be very informative for the detection of patients at risk, and the future development of preventive and management measures.

A CASE OF CHRONIC PULMONARY ASPERGILLOSIS AS THE INITIAL PRESENTATION FOR SARCOIDOSIS

TOPIC: Chest Infections TYPE: Medical Student/Resident Case Reports INTRODUCTION: Subacute invasive pulmonary aspergillosis is a locally invasive subacute form of chronic pulmonary aspergillosis (CPA) which typically involves the upper lobes of individuals with pre-existing lung disease or immunodeficiency. Patients with chronic fibrocystic sarcoidosis are prone to CPA. We described a case of sarcoidosis complicated with CPA which was diagnosed concomitantly. CASE PRESENTATION: A 34 year old male with no past medical history presented with hemoptysis for 3 days, associated with chronic productive cough, exertional dyspnea and skin rashes over his arms and face for the past year. Physical examination revealed multiple violaceous plaque over bilateral upper arms and face; reduced breath sounds over bilateral upper zones. CT Chest revealed bilateral upper lobes cavitations, left upper lobe mass-like consolidation, approximately 2.9 cm with air crescent sign. Laboratory tests were notable for lymphopenia, ESR 43 mm/h, CD4+ count 244, Aspergillus Ag 0.6, Aspergillus IgG positive, serum ACE 178 U/L, fungal culture from bronchial alveolar lavage (BAL) isolated Aspergillus species. ANCA, Histoplasma Ag, Cryptococcal Ag, HIV Ag-Ab, Quantiferon TB, Sputum acid fast smear were negative. Endobronchial ultrasound with fine needle aspiration (FNA) of subcarinal lymph nodes showed non-caseating granuloma. Skin biopsies of upper extremities skin lesions showed non-caseating granulomas without microorganisms seen. The patient was started on Voriconazole for 3 months duration and scheduled for outpatient follow up. DISCUSSION: Patients with sarcoidosis are predisposed to CPA due to underlying pulmonary involvement especially with fibrocystic sarcoidosis in addition to the mildly immunocompromised state, as evidenced by low CD4 count. The diagnosis of CPA was made based on symptomatology (chronic productive cough, dyspnea and hemoptysis), bilateral upper lobe cavitations on CT Chest, positive Aspergillus IgG and positive BAL culture for Aspergillus species. It was a challenge in making concomitant diagnosis of Sarcoidosis as it is a diagnosis of exclusion. Diagnosis of sarcoidosis cannot be made based on the non-caseating granulomas resulted from the FNA of the lymph nodes as aspergillosis can present with similar picture. The skin rash which appeared to be plaque sarcoidosis ultimately leads us to the diagnosis of sarcoidosis after confirmation of non-caseating granuloma on skin biopsy. CONCLUSIONS: Patients with CPA typically present with background risk factors of underlying lung disease. It is essential to have a high clinical suspicion for underlying undiagnosed disease processes especially when individuals presented with CPA without any obvious risk factors. CPA is a serious complication of sarcoidosis and is associated with high mortality and morbidity. Unfortunately, there is no consensus currently on how to best treat patients diagnosed with sarcoidosis and CPA. REFERENCE #1: Denning DW, Cadranel J, Beigelman-Aubry C, et al. Chronic pulmonary aspergillosis: rationale and clinical guidelines for diagnosis and management. Eur Respir J. 2016;47(1):45-68. doi:10.1183/13993003.00583-2015 REFERENCE #2: Alastruey-Izquierdo A, Cadranel J, Flick H, et al. Treatment of Chronic Pulmonary Aspergillosis: Current Standards and Future Perspectives. Respiration. 2018;96(2):159-170. doi:10.1159/000489474 REFERENCE #3: Denning DW, Pleuvry A, Cole DC. Global burden of chronic pulmonary aspergillosis complicating sarcoidosis. Eur Respir J. 2013;41(3):621-626. doi:10.1183/09031936.00226911 DISCLOSURES: No relevant relationships by Farahnaz Anwar, source=Web Response No relevant relationships by James Choi, source=Web Response No relevant relationships by Si Yuan Khor, source=Web Response No relevant relationships by Jason Liu Liu, source=Web Response No relevant relationships by Akhil Sharma, source=Web Response No relevant relationships by Enhua Wang, source=Web Response

PERCEPTIONS, ATTITUDE AND PRACTICES TOWARD ELDERLY DEPRESSION AMONG PRIMARY HEALTH CARE PHYSICIANS, RIYADH, SAUDI ARABIA 2021

Background: Elderly people need care services in particular to maintain a high quality of life and health status. Managing the health needs of geriatric patients is part of the continuity of care family physicians provide to their patients. Aims: to assess physicians attitude, perception and practice toward depression in elderly in primary care sitting. Methodology: A cross- sectional study to assess primary health care physicians attitude and perceptions and practices toward depression in elderly patients in primary health care centers of King Saud medical city in Riyadh, kingdom of Saudi Arabia using self-administrated questionnaire Results: We received 210 responses to our questionnaire with response rate of 100 % where 51 % of them were females. Furthermore, 37 % of them have experience in PHC less than 5 years while 32 % have experience for more than 10 years. PHC physicians routinely screen for sleep disturbance (79 %), loss of interest or pleasure (79 %), sad mood (72 %), and decreased energy (63 %) in order to diagnosis of depression. Moreover, we found that 56 % of physicians would use clinical guidelines for diagnosis and treatment of geriatric depression where PHQ-9 was the most reported used tool (28 %) followed by geriatric depression scales (24%). Moreover, 71 % of physicians would refer patients with depression to psychiatry and 65 % to CBT instead to prescribe medications including SNRI (29 %), TCA (17 %) and SSRI (2 %). Moreover, the main barriers to adequate diagnosis and treatment of elderly depressed patients were rejection of patients to treatment (22 % of them indicated it as major problem) and difficulty for access to mental health care in our community (19 % of them indicated it as major problem). Conclusion: we found that most of physicians in Riyadh show high positive attitude toward depression of elderly however, there is some limitations in knowledge about symptoms of depression and restriction to guideline. Main barriers to adequate diagnosis and treatment of elderly depressed patients were rejection of patients to treatment and difficulty for access to mental health care in our community.

Perceptions, attitude and practices toward elderly depression among primary health care physicians, Riyadh, Saudi Arabia, 2021.

Background: Elderly people need to care services in particular to maintain a high quality of life and health status. Managing the health needs of geriatric patients is part of the continuity of care family physicians provide to their patients. Aims: to assess physicians' attitude, perception and practice toward depression in elderly in primary care sitting.Methodology: A cross- sectional study to assess primary health care physicians' attitude and perceptions and practices toward depression in elderly patients in primary health care centers of King Saud medical city in Riyadh, kingdom of Saudi Arabia using self-administrated questionnaire Results: We received 210 responses to our questionnaire with response rate of 100% where 51% of them were females. PHC physicians routinely screen for sleep disturbance (79%), loss of interest or pleasure (79%), sad mood (72%), and decreased energy (63%) in order to diagnosis of depression. Moreover, we found that 56% of physicians would use clinical guidelines for diagnosis and treatment of geriatric depression. Furthermore, the main barriers to adequate diagnosis and treatment of elderly depressed patients were rejection of patients to treatment (22% of them indicated it as major problem) and difficulty for access to mental health care in our community (19% of them indicated it as major problem).Conclusion: we found that most of the physicians in Riyadh show high positive attitude toward depression of elderly however, there are some limitations in knowledge about symptoms of depression and restriction to guideline.

Biomarkers in Heart Failure: Current and Future

Heart failure (HF) is the ending of practically all cardiovascular diseases and the reason for hospitalization of 49% of patients in a cardiological hospital. Available instrumental diagnostic methods and biomarkers not always allow verification of HF, particularly in patients with preserved left ventricular ejection fraction. Prediction of chronic HF in patients with risk factors faces great difficulties. Currently, natriuretic peptides (NUP) are widely used for the diagnosis, prognosis and management of patients with HF and are included in clinical guidelines for diagnosis and treatment of HF. Following multiple studies, the understanding of NUP significance has changed. This resulted in a need for new biomarkers to improve the insight into the process of HF and to personalize the treatment by better individual phenotyping. In addition, current technologies, such as transcriptomic, proteomic and metabolomic analyses, provide identification of new biomarkers and better understanding of features of the HF pathogenesis. The aim of this study was to discuss recent reports on NUP and novel, most promising biomarkers in respect of their possible use in clinical practice.

Clinical Guidelines for Diagnosis and Treatment of Botulism, 2021.

SummaryBotulism is a rare, neurotoxin-mediated, life-threatening disease characterized by flaccid descending paralysis that begins with cranial nerve palsies and might progress to extremity weakness and respiratory failure. Botulinum neurotoxin, which inhibits acetylcholine release at the neuromuscular junction, is produced by the anaerobic, gram-positive bacterium Clostridium botulinum and, rarely, by related species (C. baratii and C. butyricum). Exposure to the neurotoxin occurs through ingestion of toxin (foodborne botulism), bacterial colonization of a wound (wound botulism) or the intestines (infant botulism and adult intestinal colonization botulism), and high-concentration cosmetic or therapeutic injections of toxin (iatrogenic botulism). In addition, concerns have been raised about the possibility of a bioterrorism event involving toxin exposure through intentional contamination of food or drink or through aerosolization. Neurologic symptoms are similar regardless of exposure route. Treatment involves supportive care, intubation and mechanical ventilation when necessary, and administration of botulinum antitoxin. Certain neurological diseases (e.g., myasthenia gravis and Guillain-Barré syndrome) have signs and symptoms that overlap with botulism. Before the publication of these guidelines, no comprehensive clinical care guidelines existed for treating botulism. These evidence-based guidelines provide health care providers with recommended best practices for diagnosing, monitoring, and treating single cases or outbreaks of foodborne, wound, and inhalational botulism and were developed after a multiyear process involving several systematic reviews and expert input.

Chinese guideline for clinical diagnosis and treatment of thymic epithelial tumors (2021 Edition)

Thymic tumor is a relatively rare type of thoracic cancer, which is pathologically-classified as thymic epithelial tumors by World Health Organization (WHO), including thymoma and thymic carcinoma. The incidence of thymic epithelial tumors in China is about 4.09 per million, which is slightly higher than that in European and American countries. For surgically-resectable thymic epithelial tumors, complete resection with or without postoperative radiotherapy or chemotherapy is preferred. For advanced unresectable disease, conventional radiotherapy and chemotherapy is the mainstream treatment but lack of standard first-line and second-line regimens. In recent years, targeted drugs and the immune checkpoint inhibitors have gradually exhibited certain therapeutic prospect in this subset of tumor. Since there was no guideline regarding thymic epithelial tumor released in China, Multidisciplinary Committee on Oncology, Chinese Physicians Association analyze, summarize and discuss the relevant research data for the diagnosis, treatment and prognosis of thymic epithelial tumors, and formulate the "Chinese guidelines for clinical diagnosis and treatment of thymic epithelial tumors (2021 Edition)" for clinicians' reference.