Unexpected right-sided sigmoid colon in laparoscopy: A case report and review of literature

BACKGROUND The presence of a right-sided sigmoid colon is a rare anatomical variation usually discovered incidentally during surgical interventions.This case report details an unexpected right-sided sigmoid colon identified during a laparoscopic appendectomy and examines the pertinent literature to explore its clinical importance.CASE SUMMARY A 71-year-old woman presented with acute appendicitis.A preoperative computed tomography(CT)scan showed peri-appendiceal inflammation but no significant anatomical abnormalities.During laparoscopic surgery,an unexpected finding was encountered:The sigmoid colon was situated on the right side and exhibited an abnormal relationship with the cecum and ascending colon.Postoperative pathological examination confirmed appendicitis with no additional pathological findings.The right-sided sigmoid colon anomaly was verified through intraoperative assessment and later re-evaluation with CT and colonographic imaging.The patient underwent a laparoscopic appendectomy and experienced a smooth postoperative recovery.CONCLUSION This case highlights the necessity of being attentive to anatomical variations during laparoscopic surgery,particularly when managing appendicitis.A review of the literature indicated that the occurrence of a right-sided sigmoid colon is infrequent and may be associated with anomalies in midgut rotation during embryonic development.Awareness of this variation can help prevent surgical complications and inform future clinical practice.

The Applicability and Productiveness of a Systematic Literature Review Methodology in Volcanology Research: Case of the Magma Pathway at the Mount Cameroon Volcano

The presented research illustrates the applicability and productiveness of the systematic literature review methodology, a non-empirical methodology in the geological sciences, particularly volcanology. The systematic literature review methodology is a replicable, rigorous, and transparent methodology for synthesizing existing literature to answer questions on a specific topic. The synthesis allows for knowledge consolidation, such as identifying knowledge gaps. In our illustration of this methodology, we focused on the expanding knowledge about the magma pathway at Mount Cameroon, one of Africa’s active volcanoes. Our synthesis of the relevant international geoscience research literature is based on the framework of knowledge about the magma pathway beneath a typical basaltic volcano. The framework has three primary components: magma supply, storage, and transport to erupting vents. Across these components is a total of twelve secondary components. The result is a previously non-existent and fragmented overall understanding of the magma pathway at Mount Cameroon. The gaps in the understanding (such as in the magma supply rates, timescales of chamber processes, and magma ascent rates) may be addressed in future research. Another key implication of the presented research lies in the proof of concept of the systematic literature review methodology as an applicable qualitative research methodology in the study of volcanoes.

Therapeutic Communication Methods Targeting Families and Family Members: A Literature Review

Background and Purpose: Therapeutic communication is a new term in family health care nursing, defined by Hohashi (2019) as a method of family intervention, and characterized by inclusion of not only verbal conversation but also nonverbal interaction. However, specific therapeutic communication methods have not been systematized. The purpose of this study was to clarify therapeutic communication methods for families/family members from the perspectives of verbal communication and non-verbal communication through a review of existing literature. Methods: We conducted a search using the medical literature databases PubMed and Ichushi-Web using the keywords “therapeutic communication”. Analysis was performed on seven articles from PubMed and 14 articles from Ichushi-Web that described therapeutic communication methods performed by healthcare professionals for families/family members. Through directed content analysis, therapeutic communication methods were subcategorized, and classified into three categories: verbal communication, non-verbal communication, and verbal/non-verbal communication. Results: A total of 23 subcategories were extracted. Verbal communication included 11 subcategories, such as “asking questions using the communicatee’s words as they are”. Non-verbal communication included five subcategories, such as “noticing changes in the content of the communicatee’s story”. And verbal/non-verbal communication featured seven subcategories, such as “making the communicatee aware of one’s own beliefs”. Conclusion: Therapeutic communication methods included basic care/caring in family interviews/meetings, as well as verbal communication and non-verbal communication that act on family/family members’ beliefs. It is believed that changes in family/family members’ beliefs can be used to eliminate, reduce, or improve problematic conditions in the family. .

A Case of Lautropia mirabilis Infection in a Lung Transplant Patient and a Review of the Literature

Lautropia mirabilis is an opportunistic pathogen that typically causes intestinal and oral infections when the body’s immune system is compromised or the microbial flora is imbalanced.Respiratory infections caused by Lautropia mirabilis are extremely rare.The symptoms and severity of Lautropia mirabilis infection may vary depending on individual differences and the site of infection.Through a review of relevant literature and this case study,it has been observed that Lautropia mirabilis may also cause pulmonary infectious diseases,and in immunocompromised patients,it can lead to severe infections,potentially resulting in death.

Irregular dietary habits as a predictor of stunting occurrence among children under 5 years of age:a literature review

Objective:To identify the illustration of feeding patterns of stunting children using literature review method.Methods:This study was a descriptive narrative research using literature review approach to explore dietary habits of children with stunting problem.All the literature review processes employed Guideline Review measurement of Joanna Briggs Institute.Related ar ticles in literature were obtained from journal databases,such as Pub Med,Science Direct,Google Scholar,and Dimensions through structured research question with Patient,Exposure an interest,Outcome or response(PEO)methods.Results:This study found 2246 published ar ticles from 2018 to 2021 about children with stunting.Screening process was conducted fur ther to eliminate ar ticles with irrelevant titles and abstracts,and also the unsuitable ar ticles with the research question;hence,about 9 ar ticles were eligible to be reviewed ahead.All these ar ticles mentioned that children with irregular dietary habits would likely experience stunting.The low intake of nutritional food became the major predictor of stunting.Conclusions:Inappropriate feeding patterns and the variety of food were being the factors of stunting emergence among children<5 years of age.High consumption of carbohydrates,less animal-based protein,and misunderstanding about intake of sweetenedcondensed milk predisposed children to suffer stunting.

A Case of Waldenström Macroglobulinemia with Acute Kidney Injury as the First Manifestation and Literature Review

Waldenström macroglobulinemia is a rare lymphoid tumor accounting for 2% of all hematological malignancies. Renal complications are less common compared to multiple myeloma, with the most frequent renal manifestations being microproteinuria and microhematuria. This paper presents a case of Waldenström macroglobulinemia with acute kidney injury as the initial manifestation. A 75-year-old male was admitted to the Affiliated Hospital of Hebei University after elevated blood creatinine levels were detected for one day. Upon admission, his blood creatinine was 255 μmol/L, urine protein was 1+, urine erythrocytes were negative, electrophoresis showed IgM positivity in the κ-region, and a bone marrow biopsy indicated a tendency towards lymphoplasmacytic lymphoma. The patient was discharged after receiving a treatment regimen of prednisone acetate, thalidomide, and cyclophosphamide, and continued oral medication outside the hospital. The patient returned two weeks later due to diarrhea and was found to have a blood creatinine level of 985 μmol/L, along with severe acidosis and hyperkalemia. The patient refused renal replacement therapy and was not followed up, resulting in a poor prognosis. Additionally, a review of the literature is provided to contextualize this case within the broader scope of existing research.

Rapid progress of an iris metastasis from esophageal cancer:a case report and review of literature

This case report details a rare instance of rapid iris metastasis from esophageal cancer in a 59-year-old man.A literature review was conducted to explore recent advances in detecting,diagnosing,and treating intraocular metastatic malignancies.Positron emission tomographycomputed tomography played a crucial role in identifying primary sites and systemic metastases.Local treatment combined with systemic therapy effectively reduced tumor size,preserved useful vision,and improved the patient’s survival rate.A comparison was made of the characteristics of iris metastases from esophageal cancer and lung cancer,including age,gender,tumor characteristics,and treatment.The challenges associated with diagnosis and treatment are discussed,highlighting the implications for clinical practice.

Outcomes of long-acting injectable antipsychotics use in pregnancy:A literature review

BACKGROUND Women with a history of serious psychotic disorders are at increased risk of disease relapse during pregnancy.Long-acting injectable(LAI)antipsychotics have been widely used to improve adherence and prevent relapse in patients with various severe psychotic disorders,but there is a lack of high-quality data from previous research on the safety of LAI antipsychotics during pregnancy.AIM To summarize relevant data on maternal,pregnancy,neonatal,and developmental outcomes from published cases of LAI antipsychotic use in pregnancy.METHODS A literature search was performed through November 11,2023,using three online databases:PubMed/MEDLINE,Scopus,and Web of Science.Case reports or case series that reported information about the outcomes of pregnancy in women who used LAI antipsychotics at any point in pregnancy,with available full texts,were included.Descriptive statistics,narrative summation,and tabulation of the extracted data were performed.RESULTS A total of 19 publications satisfied the inclusion criteria:3 case series,15 case reports,and 1 conference abstract.They reported the outcomes of LAI antipsychotic use in 74 women and 77 pregnancies.The use of secondgeneration LAI antipsychotics was reported in the majority(n=47;61.0%)of pregnancies.First-generation LAI antipsychotics were administered during 30 pregnancies(39.0%).Most of the women(approximately 64%)had either satisfactory control of symptoms or no information about relapse,while approximately 12%of them had developed gestational diabetes mellitus.A minority of cases reported adverse outcomes such as stillbirth,spontaneous abortion,preterm birth,low birth weight,congenital anomalies,and neurological manifestations in newborns.However,there were no reports of negative long-term developmental outcomes.CONCLUSION Currently available data seem reassuring,but further well-designed studies are required to properly evaluate the risks and benefits of LAI antipsychotic use during pregnancy.

Quality-adjusted life years and surgical waiting list:Systematic review of the literature

BACKGROUND The quality-adjusted life year(QALY)is a metric that is increasingly used today in the field of health economics to evaluate the value of different medical treatments and procedures.Surgical waiting lists(SWLs)represent a pressing problem in public healthcare.The QALY measure has rarely been used in the context of surgery.It would be interesting to know how many QALYs are lost by patients on SWLs.AIM To investigate the relationship between QALYs and SWLs in a systematic review of the scientific literature.METHODS The study was conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses Statement.An unlimited search was carried out in PubMed,updated on January 19,2024.Data on the following variables were investigated and analyzed:Specialty,country of study,procedure under study,scale used to measure QALYs,the use of a theoretical or real-life model,objectives of the study and items measured,the economic value assigned to the QALY in the country in question,and the results and conclusions published.RESULTS Forty-eight articles were selected for the study.No data were found regarding QALYs lost on SWLs.The specialties in which QALYs were studied the most in relation to the waiting list were urology and general surgery,with 15 articles each.The country in which the most studies of QALYs were carried out was the United States(n=21),followed by the United Kingdom(n=9)and Canada(n=7).The most studied procedure was organ transplantation(n=39),including 15 kidney,14 liver,5 heart,4 lung,and 1 intestinal.Arthroplasty(n=4),cataract surgery(n=2),bariatric surgery(n=1),mosaicplasty(n=1),and septoplasty(n=1)completed the surgical interventions included.Thirty-nine of the models used were theoretical(the most frequently applied being the Markov model,n=34),and nine were real-life.The survey used to measure quality of life in 11 articles was the European Quality of Life-5 dimensions,but in 32 articles the survey was not specified.The willingness-to-pay per QALY gained ranged from$100000 in the United States to€20000 in Spain.CONCLUSION The relationship between QALYs and SWLs has only rarely been studied in the literature.The rate of QALYs lost on SWLs has not been determined.Future research is warranted to address this issue.

Evidence-based literature review:De-duplication a cornerstone for quality

Evidence-based literature reviews play a vital role in contemporary research,facilitating the synthesis of knowledge from multiple sources to inform decisionmaking and scientific advancements.Within this framework,de-duplication emerges as a part of the process for ensuring the integrity and reliability of evidence extraction.This opinion review delves into the evolution of de-duplication,highlights its importance in evidence synthesis,explores various de-duplication methods,discusses evolving technologies,and proposes best practices.By addressing ethical considerations this paper emphasizes the significance of deduplication as a cornerstone for quality in evidence-based literature reviews.

Lactation breast abscess treated with Gualou Xiaoyong decoction and painless lactation manipulation:A case report and review of literature

BACKGROUND Breast abscess during lactation is a severe complication of acute mastitis,which can lead to discomfort,high fever,breast fistula,sepsis,septic shock,breast damage,disease persistence and frequent hospitalization.Breast abscesses may also lead the mother to discontinue breastfeeding,thereby harming the infant’s health.The predominant pathogenic bacteria are Staphylococcus aureus,Staphylococcus epidermidis and Streptococcus.The incidence of breastfeeding abscesses in breastfeeding women ranges between 4.0%and 11.0%.In cases of breast abscess,the rate of cessation of lactation is 41.0%.In instances of breast fistula,the rate of cessation of lactation is very high(66.7%).Furthermore,50.0%of women with breast abscesses must be hospitalized and treated with intravenous antibiotics.Treatment includes antibiotics,abscess puncture and surgical incision and drainage.The patients suffer from stress,pain and easily induced breast scarring;the disease’s progression is prolonged and recurrent,interfering with infant feeding.Consequently,it is crucial to discover an adequate cure.CASE SUMMARY A 28-year-old woman with a breast abscess was treated with Gualou Xiaoyong decoction and painless breast opening manipulation 24 d after cesarean delivery.On the 2nd d of treatment,the patient’s breast mass was significantly reduced,the pain was significantly reduced,and the general asthenia was improved.All conscious symptoms disappeared after 3 d,breast abscesses faded after 12 d of treatment,inflammation images disappeared after 27 d,and normal lactation images were restored.CONCLUSION In treating breast abscesses during breastfeeding,the combination of Gualou Xiaoyong decoction and painless lactation provides a positive therapeutic impact.This disease’s treatment offers the advantages of a short course of treatment,no need to discontinue breastfeeding and the ability to rapidly mitigate symptoms,which can be used as a reference in clinical practice.

Syphilitic uveitis in HIV-positive patients: report of a case series, treatment outcomes, and comprehensive review of the literature

AIM:To report the clinical characteristics,treatment and outcomes of active syphilitic uveitis in human immunodeficiency virus(HIV)positive patients and compare them with the previously published data.METHODS:Retrospective analysis of the case series from an infectious disease center in southern China was conducted.Comprehensive review of previously published cases of HIV positive syphilitic uveitis was conducted using the PubMed and Web of Science databases and the references listed in the identified articles.RESULTS:Twelve HIV positive patients with active syphilitic uveitis were collected.All were male,with age of 36.3y(range 27 to 53y).Five(41.7%)had a history of syphilis,and three of them had received anti-syphilis treatment.Ocular manifestations included corneal epithelial defect(13%),complicated cataract(17.4%),vitreous opacity(82.6%),optic disc edema(26.1%),macular edema(30.4%),neuro-retinitis(43.5%),and retinal hemorrhage(26.1%).After standardized syphilitic treatment,intraocular inflammation was reduced and vision improved in all cases.The literature review summarizes 105 previously reported cases of HIV positive syphilitic uveitis.High serum rapid plasma regain(RPR)titers may be associated with severe uveitis and poor vision.Treatment with penicillin,ceftriaxone sodium,or penicillin plus benzylpenicillin instead of using benzylpenicillin alone can significantly improve bestcorrected visual acuity(BCVA)in HIV positive ocular syphilis patients.CONCLUSION:For HIV positive syphilitic uveitis patients,prompt diagnosis and appropriate treatment and follow-up are paramount.In our series,the clinical manifestations are diverse.Syphilis patients treated by penicillin G or long-acting penicillin before may still develop syphilitic uveitis.Patients who relapse after long-term penicillin treatment can still benefit from penicillin G.

Efficacy of anlotinib combined with radioiodine to treat scalp metastasis of papillary thyroid cancer:A case report and review of literature

BACKGROUND Papillary thyroid cancer(PTC)is one of the well-differentiated thyroid tumors.Cutaneous metastasis from differentiated thyroid cancers occurs in<1%of primary thyroid carcinomas but produces the worst survival prognosis.The multi-targeting tyrosine kinase inhibitor anlotinib has been approved to treat refractory advanced non-small-cell lung cancer as well as advanced soft-tissue and clear cell sarcomas in China.CASE SUMMARY In a patient with scalp metastasis caused by PTC,thyroid and skull metastasis tumor sizes were significantly reduced after a trial of neoadjuvant anlotinib therapy for 3 cycles.Anlotinib maintenance medication after thyroidectomy further reduced the metastatic skull tumor size thereby preventing the requirement for craniotomy.CONCLUSION The outcome of the present trial confirmed the potential of anlotinib therapy to treat scalp metastasis induced by PTC and point the way for the treatment of similar diseases in the future.

Granular cell tumor of the breast:A case report and review of literature

BACKGROUND Granular cell tumor(GCT)of the breast(GCTB)is a rare neoplasm that can exhibit malignant characteristics both clinically and radiologically.This tumor can also coexist and colocalize with breast carcinoma.CASE SUMMARY We present a patient with this uncommon tumor and discuss the diagnostic and therapeutic approaches in order to further the knowledge of GCTB and prevent misdiagnosis and overtreatment.The characteristics of the tumor,methods of diagnosis,therapy and postoperative pathological outcomes were analyzed,and relevant literatures of GCTs were reviewed.The patient underwent surgery after core needle biopsy,and the excised neoplasm was sent for pathological examination.Histological analysis revealed nests of cells with abundant pink granular cytoplasm,confirming the diagnosis of GCTB.CONCLUSION As manifestations of GCT and malignancy can mimic each other,a careful histological examination is essential before major surgery.Treatment consisting of complete excision with close clinical follow-up is recommended.

CK5/6-positive,P63-positive lymphoepithelioma-like hepatocellular carcinoma:A case report and literature review

BACKGROUND Lymphoepithelioma-like carcinoma(LELC),a rare and unique variant of liver cancer,can be divided into lymphoepithelioma-like hepatocellular carcinoma and lymphoepithelioma-like intrahepatic cholangiocarcinoma.Dense lymphocytic infiltration is its characteristic pathological feature.In recent years,the number of reported cases of this type has increased each year.Studies have shown that lymphoepithelioma-like cholangiocarcinoma occurs more frequently in Asian women;LELC is associated with Epstein–Barr virus infection of liver cells of epithelial origin.Existing research shows that the prognosis of this tumour is good.CASE SUMMARY A 38-year-old female patient was hospitalized after 3 mo of abdominal pain and nausea.She had been infected with hepatitis B virus more than 10 years prior.The patient was hospitalized on January 21,2022.Magnetic resonance imaging showed a 36 mm×28 mm mass under the envelope of the left inner lobe of the liver.No metastasis of lymph nodes or other organs was observed.After left hemihepatectomy,biopsy and immunohistochemistry yielded a final diagnosis of lymphoepithelial hepatocellular carcinoma.After 12 mo of outpatient follow-up and chemotherapy,no tumour metastases were found on the latest computed tomography examination.CONCLUSION Herein,the patient was treated surgically and then followed up as an outpatient for 12 mo.This case will further expand our overall knowledge of the diagnosis and treatment of this rare tumor.

Systematic Review of Literature for Smartphones Technology Acceptance Using Unified Theory of Acceptance and Use of Technology Model (UTAUT)

Systematic Review and Meta-analysis are techniques which attempt to associate the findings from similar studies and deliver quantitative summaries of the research literature [1]. The Systematic review of research literature identifies the common research methods, research design, sample size, parameters used, survey instruments, etc. used by the group of researchers. This study intends to fulfill this purpose in order to identify common research mythologies, dependent variables, sample sizes, moderators and mediators used in the field of analysing technology adoption based studies that utilizes the UTAUT2 model. This research collected over 59 published articles and conducted descriptive analytics. The results have revealed performance expectancy/perceived usefulness, trust and habit as the best predictors of consumer behavioural intentions towards the adoption of mobile application. Behavioural intention was the best predictor of use behaviour among the 57 articles selected. 274 was the mean sample size of research with 25 mean questionnaire items. SPSS and AMOS were the most common softwares used in all 57 studies, and 32 of those studies used UTAUT1 model while 14 researches incorporated the UTAUT2 model. There were also two promising predictors such as perceived risk on behavioural intention and habit on use behaviour.

Explainable Rules and Heuristics in AI Algorithm Recommendation Approaches——A Systematic Literature Review and Mapping Study

The exponential use of artificial intelligence(AI)to solve and automated complex tasks has catapulted its popularity generating some challenges that need to be addressed.While AI is a powerfulmeans to discover interesting patterns and obtain predictive models,the use of these algorithms comes with a great responsibility,as an incomplete or unbalanced set of training data or an unproper interpretation of the models’outcomes could result in misleading conclusions that ultimately could become very dangerous.For these reasons,it is important to rely on expert knowledge when applying these methods.However,not every user can count on this specific expertise;non-AIexpert users could also benefit from applying these powerful algorithms to their domain problems,but they need basic guidelines to obtain themost out of AI models.The goal of this work is to present a systematic review of the literature to analyze studies whose outcomes are explainable rules and heuristics to select suitable AI algorithms given a set of input features.The systematic review follows the methodology proposed by Kitchenham and other authors in the field of software engineering.As a result,9 papers that tackle AI algorithmrecommendation through tangible and traceable rules and heuristics were collected.The reduced number of retrieved papers suggests a lack of reporting explicit rules and heuristics when testing the suitability and performance of AI algorithms.

Renal pelvis sarcomatoid carcinoma with renal vein tumor thrombus:A case report and literature review

BACKGROUND Renal pelvis sarcomatoid carcinoma(RPSC)is a rare and aggressive malignancy whose diagnosis is difficult because radiological imaging results can lead to misclassification as a more common type of renal tumor.In addition,clinical management of patients with RPSC is difficult because of the limited efficacy of available treatments.In this study,we present a comprehensive description of a patient who presented with RPSC and a simultaneous renal vein tumor thrombus.CASE SUMMARY During April,2020,a 64-year-old female presented with an isolated episode of hematuria accompanied by abdominal pain.Computed tomography(CT)and magnetic resonance imaging(MRI)showed a lesion in the right renal pelvis.We therefore performed a radical nephrectomy of the right kidney.The subsequent histopathological and immunological results verified the diagnosis of RPSC.Despite administration of 6 cycles of a gemcitabine-cisplatin regimen,the patient's condition progressively deteriorated,and she died about 15 mo after the nephrectomy.CONCLUSION We performed a comprehensive analysis of a patient with RPSC that included CT,MRI,immunohistochemistry,and genetic testing.The insights from our detailed analysis of this patient and our concomitant review of the literature may assist clinicians in their diagnosis and treatment of RPSC.

A Literature Review on “Non- Marriage”: A Global Comparative Perspective

This paper presents a comprehensive analysis and comparison of the existing literature on the phenomenon of non-marriage or staying unmarried in Asian countries such as China,Japan,South Korea,and Singapore,as well as European and American countries such as Spain and the US,and explores the trends,characteristics as well as reasons behind such a phenomenon.Through analysis,the present study found that there is a growing trend of postponed marriage and parenthood as well as an increasing proportion of individuals who exhibit no enthusiasm towards matrimony or parenthood in the aforementioned countries.To some extent,non-marriage or postponed marriage has become a prevalent trend in developed countries and even some developing countries.Japan,South Korea,and several developed countries in Europe and America have exhibited this phenomenon since the middle to late 20th century,with a relatively long history.The emergence of this phenomenon in China,Malaysia,the Philippines,and other developing countries in Asia,however,was relatively late,exhibiting a gradual development process.The current marriage landscape in China is characterized by a growing number of non-marriage individuals and a significant level of marital stability.In terms of reasons for staying unmarried,the marriage rates in the aforementioned countries can be attributed to various factors at macro,meso,and micro levels.In China,the phenomenon of non-marriage is closely associated with a range of factors,including diverse values and attitudes towards romance and marriage,marriage squeeze,education expansion,and the rise in females’economic and social status.The emphasis in future research should be placed on predicting the phenomenon of non-marriage,with a specific focus on exploring the reasons for advocating non-marriage,examining the internal mechanisms underlying this phenomenon,analyzing the consequences of non-marriage,and proposing corresponding countermeasures while establishing the public identity towards marriage.

Congenital leukemia: A case report and review of literature

BACKGROUND Acute leukemia in newborns is also known as neonatal or congenital leukemia(CL)and is a rare disease with an incidence rate of 1-5 per 1000000 live births.After birth,infants with CL exhibit infiltrative cutaneous nodules,hepatosplenomegaly,thrombocytopenia,and immature leukocytes in the peripheral blood.These symptoms are frequently accompanied by congenital abnormalities including trisomy 21,trisomy 9,trisomy 13,or Turner syndrome.Despite significant advances in disease management,the survival rate is approximately 25%at 2 years.CASE SUMMARY Here,we document a case of trisomy 21-related acute myeloid leukemia(AML)in a female neonate.The baby was sent to the neonatal intensive care unit because of anorexia,poor responsiveness,and respiratory distress.She was diagnosed with AML based on bone marrow aspiration and immunophenotyping.Genetic sequencing identified a mutation in the GATA1 gene.After receiving the diagnosis,the parents decided against medical care for their child,and the baby died at home on day 9 after birth.CONCLUSIONS The newborn infant was diagnosed with trisomy 21-related AML.Genetic sequencing identified a mutation in the GATA1 gene.The parents abandoned medical treatment for their infant after receiving the diagnosis,and the infant died at home on the 9th day after birth.