Recent Advances for Global Perspectives on Etiology, Pathophysiology, Clinical Presentations, and Management of Moyamoya Disease

Moyamoya disease (MMD) is a condition characterized by the gradual narrowing and blockage of blood vessels in the brain, specifically those in the circle of Willis and the arteries that supply it. This results in reduced blood flow and oxygen to the brain, leading to progressive symptoms and potential complications. The underlying pathophysiological mechanism remains elucidated. However, recent studies have highlighted numerous etiologic factors: abnormal immune complex responses, susceptibility genes, branched-chain amino acids, antibodies, heritable diseases, and acquired diseases, which may be the great potential triggers for the development of moyamoya disease. Its clinical presentation has varying degrees from transient asymptomatic events to significant neurological deficits. Moyamoya disease (MMD) shows different patterns in children and adults. Children with MMD are more susceptible to ischemic events due to decreased blood flow to the brain. Conversely, adults with MMD are more prone to hemorrhagic events involving brain bleeding. Children with MMD may experience a range of symptoms including motor impairments, sensory issues, seizures, headaches, dizziness, cognitive delays, or ongoing neurological problems. Although adults may present with similar clinical symptoms as children, they are more prone to experiencing sudden onset intraventricular, subarachnoid, or intracerebral hemorrhages. One of the challenges in moyamoya disease is the potential for misdiagnosis or delayed diagnosis, particularly when physicians fail to consider MMD as a possible cause in stroke patients. This review aims to provide a comprehensive overview of recent global studies on the pathophysiology of MMD, along with advancements in its management. Additionally, the review will delve into various surgical treatment options for MMD, as well as its rare occurrence alongside atrioventricular malformations. Exciting prospects include the use of autologous bone marrow transplant and the potential role of Connexin 43 protein treatment in the development of moyamoya disease.

Etiology of anterior choroidal artery infarction:a systematic review

Objective:To systematically review the etiology of anterior choroidal artery(AChA)infarction.Methods:A systematic literature search up to May 11,2024,for AChA infarction with its etiology.Epidemiologic and clinical data of patients,anatomic distribution of the lesions,and etiologic classification of AChA infarction were extracted.Results:A total of 1007 individual patient data was included(967 from retrospective clinical studies and 40 from case reports).Among the clinical research,patients’mean age was 64.7.There were 62.24%of male and 37.76%of female patients.Hypertension(66.04%)was the most common risk factor for patients with AChA infarction.Dyslipidemia(32.92%),diabetes mellitus(30.93%),and smoking(26.54%)were also common risk factors.Moreover,the posterior limb of the internal capsule was the most frequently affected structure.Undetermined etiology(n=173,38.02%),according to the trial of org 10172 in acute stroke treatment(TOAST)etiological classification,was the most common etiology,followed by small vessel disease(n=117,25.71%),large artery atherosclerosis(n=84,18.46%),and cardioembolism(n=63,13.85%).Furthermore,eighteen strokes were caused by other determined etiologies(3.96%).Conclusions:Undetermined etiology was the most common etiology of AChA infarction.Hypertension,dyslipidemia,diabetes mellitus,and smoking were common risk factors for patients with AChA infarction.It is necessary to prevent the risk factors.

Changes in the etiology of liver cirrhosis and the corresponding management strategies

We read with interest the article by Xing Wang,which was published in the recent issue of the World Journal of Hepatology 2023;15:1294-1306.This article focuses particularly on the prevalence and trends in the etiology of liver cirrhosis(LC),prognosis for patients suffering from cirrhosis-related complications and hepatocellular carcinoma(HCC),and management strategies.The etiology of cirrhosis varies according to geographical,economic,and population factors.Viral hepatitis is the dominant cause in China.Vaccination and effective treatment have reduced the number of people with viral hepatitis,but the overall number is still large.Patients with viral hepatitis who progress over time to LC and HCC remain an important population to manage.The increased incidence of metabolic syndrome and alcohol consumption is likely to lead to a potential exponential increase in metabolic dysfunction-associated steatotic liver disease(MASLD)-associated LC and alcoholic liver disease in the future.Investigating the evolution of the etiology of LC is important for guiding the direction of future research and policy development.These changing trends indicate a need for greater emphasis on tackling obesity and diabetes,and implementing more effective measures to regulate alcohol consumption in order to reduce the occurrence of MASLD.In an effort to help cope with these changing trends,the authors further proposed countermeasures for healthcare authorities doctors,and patients.

Etiology and pathogenesis of corona virus disease 2019 on the view of Chinese medicine

Traditional Chinese Medicine has played an important role in the prevention and treatment of the Corona Virus Disease 2019 epidemic.But in views of different TCM scholars there are different opinions about disease name,characteristic of etiology,law of pathogenesis about this epidemic.Based on related literatures,this article overviews of the characteristics of TCM etiology,law of pathogenesis and methods of syndrome differentiation,hoping to find research method that fit in with TCM clinical practice.Prerequisite of treatment is identifying the cause.The clinical manifestations of patients are important to TCM,and the etiological attributes can be inferred from the clinical manifestations.SARS-CoV-2 belongs to exogenous etiological factors,but there are different opinions about its characteristics of six pathogenic factors.Cold,Dampness,Warm,Dry,Toxin,Summer-heat,Wind,are all involved.Thus,different understanding of the pathogenesis and the law of transmission is caused.Such as cold and dampness hurt Yang,furthermore,consumed of Qi;dampness and toxin infected from external environment,turbid dampness produced inside the body;dryness affecting lungs and consume of Yin;warm-heat-turbid-toxin affected lungs,stomach and intestine;and then produced phlegm stagnation or blood stasis,furthermore consumed Qi and Yin.Based on those differences,methods of syndrome differentiation in treatment of COVID-19 are diverse,which contain pattern differentiation of zang-fu organs,pattern differentiation of Wei-defence,Qi,Ying nutrients and blood;pattern differentiation by the eight principles,and pattern differentiation of six meridians.Because of SARS-CoV-2 can spread to the whole country or even the whole world in a short period of time,its pathogenic nature should be roughly the same.So studying the treatment of COVID-19 based on clinical cases,refining the similarities and differences in the clinical presentation of patients with different subtypes during the epidemic,clarification of the etiologic attribution and evolutionary patterns of disease mechanisms,developing a comprehensive understanding of COVID-19 in Chinese medicine is needed.Furthermore,getting a full understanding of COVID-19,and providing reference for the prevention and treatment of unknown infectious diseases.

Genetic regulation of cell type-specific chromatin accessibility shapes brain disease etiology

Nucleotide variants in cell type-specific gene regulatory elements in the human brain are risk factors for human disease.We measured chromatin accessibility in 1932 aliquots of sorted neurons and non-neurons from 616 human postmortem brains and identified 34,539 open chromatin regions with chromatin accessibility quantitative trait loci(caQTLs).Only 10.4%of caQTLs are shared between neurons and non-neurons,which supports cell type-specific genetic regulation of the brain regulome.Incorporating allele-specific chromatin accessibility improves statistical fine-mapping and refines molecular mechanisms that underlie disease risk.Using massively parallel reporter assays in induced excitatory neurons,we screened 19,893 brain QTLs and identified the functional impact of 476 regulatory variants.Combined,this comprehensive resource captures variation in the human brain regulome and provides insights into disease etiology.

Etiology of Pancytopenia in Tabriz Shahid Ghazi Hospital:A Cross-sectional Study in Iran

Objective:Pancytopenia is characterized by a reduction in all three types of blood cells:erythrocytes,leukocytes,and platelets.Pancytopenia is caused by a wide range of diseases,leading to diagnostic conundrums.These causes can range from drug reactions to life-threatening diseases such as aplastic anemia and leukemia.This study aims to investigate the causes of pancytopenia,specifically focusing on age and gender differences among patients.Methods:This cross-sectional study includes patients of all ages diagnosed with pancytopenia,as indicated by a CBC/H1 showing a WBC count less than 4,000/μL,platelet count less than 150,000/μL,and hemoglobin levels below 12 g/dL in women and less than 13 g/dL in men.The study only included patients with pancytopenia who underwent bone marrow examination and were not subjected to chemotherapy or radiation therapy.Results:A total of 133 patients with pancytopenia were included in the study.The average age was 47.35±17.62 years old,with 66%of the participants being male and 34%being female.Acute leukemia,specifically acute myeloid leukemia(AML)and acute lymphoid leukemia(ALL),was identified as the primary cause of pancytopenia,accounting for 31.5%of cases.Megaloblastic anemia was the second most common cause,accounting for 30%of cases,followed by aplastic anemia at 7.5%.Conclusion:Pancytopenia,a condition marked by the decrease in both erythrocytes and leukocytes as well as thrombocytes,can arise from a myriad of causes.The main findings of this study revealed that megaloblastic anemia,acute myeloid leukemia(AML),and acute lymphoid leukemia(ALL)were the most common causes.Significantly,a considerable proportion of cases of pancytopenia can be attributed to acute leukemia.Hence,expeditious and accurate diagnosis is imperative and has the potential to save lives in such cases.

Analysis of Etiology,Diagnosis,and Treatment Strategy and Efficacy of Pulsatile Tinnitus Caused by Abnormal Vascular Anatomy

Objective To investigate the etiology,clinical characteristics,diagnosis,and treatment strategies and efficacy of pulsatile tinnitus(PT)caused by vascular anatomy abnormality.Methods The clinical data of 45 patients with PT in our hospital from 2012 to 2019 were collected and retrospectively analyzed.Results All 45 patients had vascular anatomical abnormalities.The patients were divided into 10 categories according to the different locations of vascular abnormalities:sigmoid sinus diverticulum(SSD),sigmoid sinus wall dehiscence(SSWD),SSWD with high jugular bulb,pure dilated mastoid emissary vein,aberrant internal carotid artery(ICA)in the middle ear,transverse-sigmoid sinus(TSS)transition stenosis,TSS transition stenosis with SSD,persistent occipital sinus stenosis,petrous segment stenosis of ICA,and dural arteriovenous fistula.All patients complained of PT synchronous with heartbeat rhythm.Endovascular interventional therapy and extravascular open surgery were used according to the location of the vascular lesions.Tinnitus disappeared in 41 patients,was significantly relieved in 3 patients,and was unchanged in 1 patient postoperatively.Except for one patient with transient headache postoperatively,no obvious complications occurred.Conclusion PT caused by vascular anatomy abnormalities can be identified by detailed medical history and physical and imaging examination.PT can be relieved or even completely alleviated after appropriate surgical treatments.

Etiology analysis for term newborns with severe hyperbilirubinemia in eastern Guangdong of China

BACKGROUND Neonatal hyperbilirubinemia is one of the common diseases of newborns that typically presents with yellow staining of skin,resulting in sequelaes such as hearing loss,motor and intellectual development disorders,and even death.The pathogenic factors of neonatal hyperbilirubinemia are complex.Different cases of hyperbilirubinemia may have a single or mixed etiology.AIM To explore the etiological characteristics of severe hyperbilirubinemia in term newborns of eastern Guangdong of China.METHODS Term newborns with severe hyperbilirubinemia in one hospital from January 2012 to December 2021 were retrospectively analyzed.The etiology was determined according to the laboratory results and clinical manifestations.RESULTS Among 1602 term newborns with hyperbilirubinemia in eastern Guangdong of China,32.20%(580/1602)was severe hyperbilirubinemia.Among the causes of severe hyperbilirubinemia,neonatal hemolysis accounted for 15.17%,breast milk jaundice accounted for 12.09%,infection accounted for 10.17%,glucose-6-phosphate dehydrogenase(G6PD)deficiency accounted for 9.14%,and the coexistence of multiple etiologies accounted for 6.55%,unknown etiology accounted for 41.72%.ABO hemolysis and G6PD deficiency were the most common causes in the 20 cases with bilirubin encephalopathy.94 severe hyperbilirubinemia newborns were tested for uridine diphosphate glucuronosyl transferase 1A1(UGT1A1)*6 variant(rs4148323,c.211G>A,p.Arg71Gly),9 cases were 211 G to A homozygous variant,37 cases were 211 G to A heterozygous variant,and 48 cases were wild genotypes.CONCLUSION The main cause for severe hyperbilirubinemia and bilirubin encephalopathy in eastern Guangdong of China were the hemolytic disease of the newborns,G6PD deficiency and infection.UGT1A1 gene variant was also a high-risk factor for neonatal hyperbilirubinemia.Targeted prevention and treatment according to the etiology may reduce the occurrence of bilirubin encephalopathy and kernicterus.

Acute cholangitis: Does malignant biliary obstruction vs choledocholithiasis etiology change the clinical presentation and outcomes?

BACKGROUND Whether clinical outcomes of acute cholangitis(AC)vary by etiology is unclear.AIM To compare outcomes in AC caused by malignant biliary obstruction(MBO)and common bile duct stones(CBDS).METHODS This retrospective study included 516 patients undergoing endoscopic retrograde cholangiopancreatography(ERCP)due to AC caused by MBO(MBO group,n=56)and CBDS(CBDS group,n=460).Clinical and laboratory parameters were compared between the groups.Propensity score matching(PSM)created 55 matched pairs.Confounders used in the PSM analysis were age,sex,time to ERCP,and technical success of ERCP.The primary outcome comparison was 30-d mortality.The secondary outcome comparisons were intensive care unit(ICU)admission rate,length of hospital stay(LOHS),and 30-d readmission rate.RESULTS Compared with the CBDS group,the MBO group had significantly lower body temperature,percentage of abnormal white blood cell counts,and serum levels of aspartate aminotransferase,alanine aminotransferase,and creatinine.Body temperature,percent abnormal white blood cell count,and serum aspartate aminotransferase levels remained significantly lower in the MBO group in the PSM analysis.Platelet count,prothrombin time/international normalized ratio,and serum levels of alkaline phosphatase and total bilirubin were significantly higher in the MBO group.The MBO group had a significantly higher percentage of severe AC(33.9%vs 22.0%,P=0.045)and received ERCP later(median,92.5 h vs 47.4 h,P<0.001).However,the two differences were not found in the PSM analysis.The 30-d mortality(5.4%vs 0.7%,P=0.019),ICU admission rates(12.5%vs 4.8%,P=0.028),30-d readmission rates(23.2%vs 8.0%,P<0.001),and LOHS(median,16.5 d vs 7.0 d,P<0.001)were significantly higher or longer in the MBO group.However,only LOHS remained significant in the PSM analysis.Multivariate analysis revealed that time to ERCP and multiple organ dysfunction were independent factors associated with 30-d mortality.CONCLUSION MBO patients underwent ERCP later and thus had a worse prognosis than CBDS patients.Therefore,clinicians should remain vigilant in MBO patients with clinically suspected AC,and perform ERCP for biliary drainage as soon as possible.

Etiological and Evolutionary Profile of Anemia in Patients Hospitalized in the Internal Medicine Unit of the Fousseyni Daou Hospital in Kayes

Introduction: Anemia is one of the most common public health problems in the world and affects all ages. Objective: To describe the etiological and evolutionary profile of anemia in patients hospitalized in the Internal Medicine Unit of the Fousseyni Daou Hospital in Kayes. Methodology: It was a descriptive and cross-sectional study with retrospective data collection which took place from January 1 to December 31, 2020 at the Internal Medicine Unit of the Fousseyni Daou Hospital in Kayes. It covered all anemic patients hospitalized during the study period. Results: We identified 91 cases of anemia out of 200 patients admitted to the Unit that is a hospital prevalence of 45.5%. The age group of 26 to 35 years was the most represented, that is to say 29 cases (31.87%) with an average age of 43.55 years ± 17.48 years, the female sex predominated, 51 cases (56.04%) with a sex ratio of 0.78. Housewives represented 41 cases (45.05%). The majority of patients resided in rural areas 48 cases (52.75%). The main manifestations were: asthenia 75 cases (78.02%), vertigo 68 cases (74.72%), dyspnea 62 cases (68.13%), headaches 59 cases (64.83%), palpitations 55 cases (60.44%), conjunctival pallor 53 cases (58.24%), tachycardia 43 cases (47.25%), systolic murmur 18 cases (19.78%) and IMO 11 cases (12.09%). The associated pathologies were: infected diabetic wounds 25.27%, followed by bacterial pleuro-pneumopathy 18.68%. Biologically, microcytic anemia was the most frequent 49 cases (53.84%), followed by normocytic anemia 35 cases (38.46%) and macrocytic anemia 7 cases (7.7%). Anemia was hypochromic, 53 cases (58.24%) were more encountered compared to normochromic anemia 38 cases (41.76%). The anemia was: severe in 43 cases (47.25%), moderate 29 cases (31.87%) and mild 19 cases (20.88%). Inflammatory anemia is the most common etiological diagnosis in 60% of cases, followed by vitamin B12 deficiency anemia observed in 21% of patients and then blood diseases in 7.33% of cases. The main causes of death were HIV (50%) and kidney failure (33.33%). Conclusion: Anemia is a frequent symptom in internal medicine. It constitutes a real diagnostic challenge for the internist and this sometimes in an emergency context. The use of specialized examinations and labile blood products is essential in our hospital.

Age-related outcomes in patients with cardiogenic shock stratified by etiology

BACKGROUND As a result of improved and novel treatment strategies,the spectrum of patients with cardiovascular disease is consistently changing.Overall,those patients are typically older and characterized by increased burden with comorbidities.Limited data on the prognostic impact of age in cardiogenic shock(CS)is available.Therefore,this study investigates the prognostic impact of age in patients with CS.METHODS From 2019 to 2021,consecutive patients with CS of any cause were included.The prognostic value of age(i.e.,60-80 years and>80 years)was investigated for 30-day all-cause mortality.Spearman’s correlations,Kaplan-Meier analyses,as well as multivariable Cox proportional regression analyses were performed for statistics.Subsequent risk assessment was performed based on the presence or absence of CS related to acute myocardial infarction(AMI).RESULTS 223 CS patients were included with a median age of 77 years(interquartile range:69-82 years).No significant difference in 30-day all-cause mortality was observed for both age-groups(54.6%vs.63.4%,log-rank P=0.169;HR=1.273,95%CI:0.886-1.831,P=0.192).In contrast,when analyzing subgroups stratified by CS-etiology,AMI-related CS patients of the group>80 years showed an increased risk of 30-day all-cause mortality(78.1%vs.60.0%,log-rank P=0.032;HR=1.635,95%CI:1.000-2.673,P=0.050),which was still evident after multivariable adjustment(HR=2.072,95%CI:1.174-3.656,P=0.012).CONCLUSIONS Age was not associated with 30-day all-cause mortality in patients with CS of mixed etiology.However,increasing age was shown to be a significant predictor of increased mortality-risk in the subgroup of patients presenting with AMI-CS.

Etiology, Prevalence, and Management of Oral and Maxillofacial Soft Tissue Injuries in Children at the Komfo Anokye Teaching Hospital, Kumasi-Ghana

Background: Maxillofacial injury may vary from simple soft tissue lacerations to complex fractures of the orofacial region. Soft tissue injuries, whether isolated or in combination with other injuries, form part of the frequent traumatic craniofacial injuries seen at the emergency department. The force of impact and the injury type is directly related to the severity of the injury sustained. This study aimed to analyze the etiological factors, prevalence, and management of oral and maxillofacial soft tissue injuries at the Komfo Anokye Teaching Hospital. Methods: This was a prospective study that involved children presenting with oral and maxillofacial injuries at the Accident and Emergency Department and the Oral and Maxillofacial Surgery unit of the Komfo Anokye Teaching Hospital in Kumasi between the period of April to October 2020 (6 months). Patient selection was by convenience sampling targeting all children with injuries who met the inclusion criteria. Inclusion criteria were children below the age of 18 years whose parents or caregivers consent to participation. Children with maxillofacial injuries as a result of burns were excluded from the study. Results: During the study period a total of 134 children were reviewed with oral and maxillofacial injuries at KATH. Of these, 107 (78.9%) were recorded cases of orofacial soft tissue injuries. There were 63 (58.9%) males and 44 (41.1%) females and the male-to-female ratio was 1.5:1. The age range of patients studied was 8 months – 17 years, with mean age ± SD being 9.5 ± 5.3 years. Road Traffic Crash (50.5%) was the most common etiology of which Motor cycle crash constituted 24.3% and Pedestrian knockdown was 19.6%. Falls (42.1%) were the next most common etiology. The lips (19.8%) and the forehead (18.5%) were the most frequently injured sites on the face whiles the tongue (3.3%) had the most injuries intraorally. Laceration (45.7%) was the most frequent injury reviewed, followed by abrasions (35.8%). Most of the soft tissue injuries underwent primary closure (56.3%). A complication rate of 21.2% was recorded in this study and hypertrophic scarring (11.3%) was the most observed.

Aetiologic Factors of Anemia During Heart Failure in Brazzaville (The Republic of the Congo)

To contribute to improving the management of patients with heart failure and anemia in Brazzaville, a prospective and descriptive study was conducted in the University Hospital of Brazzaville for nine months (January 1st to September 30, 2017). Included 57 patients hospitalized for left or global heart failure and presenting anemia. Anemia was defined by an haemoglobin level < 12 g/dL in men and <11 g/dL in women. Proportionings of the reticulocytes rate, serum iron, ferritin, erythrocyte sedimentation rate (ESR) and/or C-reactive protein (CRP), electrophoresis of proteins, and evaluation of renal function by glomerular filtration rate (GFR), as well as the treatments of heart failure, and the auxiliary therapeutic ones, in particular the antithrombotic drugs, allowed aetiologic research. They were 20 men (35%) and 37 women (65%), old on average of 59 ± 17 years. The average rate of haemoglobin was 11.4 ± 1.4 g/dL. Heart failure was de novo in 24 cases (42.1%), old in 33 cases (57.9%);it was global in 54 cases (94.7%).The maintenance treatment associated diuretics in 32 cases (97%), angiotensin-converting enzyme inhibitor (ACEI) or angiotensin II receptor blocker (ARB) in 31 cases (94%), beta-blockers in two cases (6.1%), digoxin in four cases (12.1%), aspirin in five cases (15.1%) and anti-vitamin K in four cases (12.1%). Anemia was microcytic hypochromic in 30 cases (52.6%), normocytic normochromic in 20 cases (35.1%), and macrocytic normochromic in one case (1.7%). The main aetiologic factors were hemodilution in 46 cases (80.7%), renal insufficiency in 30 cases (52.3%), inflammation in 29 cases (50.8%), and iron deficiency in one case (1.7%). The HIV serology, carried out in 11 cases, was negative. Anemia is a frequent comorbidity among heart failure patients. Aetiologic research remains difficult in our context, and its often multifactorial origin.

Epidemiology and etiology of chemical ocular injury:A brief review

Chemical ocular injury is one of the common ophthalmologic emergencies that can cause vision loss and serious complications.Despite all protective measures,it continues to be a serious public health problem,especially in young male patients.Although it is known that injuries occur most frequently in the workplace and in young male patients,there is a variable frequency and distribution in different regions around the world.In addition,with the coronavirus disease 2019 pandemic,there are changing trends in ocular chemical injuries.This review aims to specify an update on the epidemiological and etiological features of ocular chemical injuries.

Acute hepatitis of unknown etiology in an adult female:A case report

BACKGROUND Acute liver injury(ALI)refers to inflammation of the hepatic parenchyma without hepatic encephalopathy that lasts less than 6 mo.When the etiology is unknown,Acute Hepatitis of Unknown Origin(AHUO)can present as a diagnostic and treatment challenge.AHUO in the adult population is unusual and poorly documented.It has an incidence between 11%and 75%.Currently,no treatment guidelines exist.With no identified cause,treatment is often blind,and the wrong treatment plan may have unintended consequences.CASE SUMMARY We present the case of a 58-year-old woman who presented to the emergency room for elevated liver function tests(LFTs).Her symptoms started 10 d prior to admission and included nausea,vomiting,jaundice,decreased appetite,weight loss of 10 lbs,and dark urine.She denied drinking alcohol or taking any hepatotoxic agents,including acetaminophen,statins,vitamins,or supplements.She was admitted to the hospital,and an etiologic work-up was carried out.Her initial bloodwork revealed elevated liver enzymes(alanine aminotransferase 2500 U/L,aspartate aminotransferase 3159 U/L,and alkaline phosphatase 714 U/L)and elevated total bilirubin of 6.4 mg/dL.She tested negative for common infectious etiologies such as hepatotropic viruses A,B,C,and E.Further infective work-up revealed negative serology for cytomegalovirus,Epstein-Barr virus,herpes simplex virus 1&2,and human immunodeficiency virus.Her autoanti-body test results were negative,including anti-smooth muscle antibody,anti-mitochondrial antibody,and anti-liver kidney microsome 1 antibody.Magnetic resonance cholangiopancreatography ruled out biliary causes of elevated LFTs,and her core liver biopsy proved inconclusive.Over the course of her hospital stay,the patient's LFTs improved with supportive care and without steroids.CONCLUSION Idiopathic hepatitis makes treatment challenging.It can leave patients feeling confused and unfulfilled.Thus,educating the patient thoroughly for shared decision-making and management becomes essential.

Advances of Genetic Testing Technology in Etiology Diagnosis of Recurrent Spontaneous Abortion

Recurrent spontaneous abortion (RSA) is a complex and heterogeneous disorder with multiple etiologies. Genetic factors are thought to play an important role in the etiology of RSA. With recent advances in genetic testing technologies, there has been an increasing interest in using these tools to diagnose the etiology of RSA. This review discusses the different types of genetic testing methods, such as karyotyping, chromosomal microarray analysis, next-generation sequencing, and their applications in the diagnosis of the etiology RSA. The use of genetic testing in the diagnosis of RSA has the potential to improve the accuracy of diagnosis and the understanding of the underlying mechanisms of the disorder, which could lead to better management and treatment of affected individuals.

Luspatercept enhances hemoglobin levels in a Chinese boy with congenital sideroblastic anemia:A case report

BACKGROUND Congenital sideroblastic anemia(CSA)is a rare and heterogeneous group of genetic disorders.Conventional treatment include pyridoxine(vitamin B6)and allogeneic hematopoietic stem cell transplantation(allo-HSCT),and can alleviate anemia in the majority of cases.Nevertheless,some CSA cases remain unresponsive to pyridoxine or are unable to undergo allo-HSCT.Novel management approaches is necessary to be developed.To explore the response of luspatercept in treating congenital sideroblastic anemia.CASE SUMMARY We share our experience in luspatercept in a 4-year-old male patient with CSA.Luspatercept was administered subcutaneously at doses of 1.0 mg/kg/dose to 1.25 mg/kg/dose every 3 wk,three consecutive doses,evaluating the hematological response.Luspatercept leading to a significant improvement in the patient's anemia.The median hemoglobin during the overall treatment with three doses of luspatercept was 90(75-101)g/L,the median absolute reticulocyte count was 0.0593(0.0277-0.1030)×10^(12)/L,the median serum ferritin was 304.3(234.4-399)ng/mL,and the median lifespan of mature red blood cells was 80(57-92)days.Notably,no adverse reactions,such as headaches,dizziness,vomiting,joint pain,or back pain,were observed during the treatment period.CONCLUSION We believe that luspatercept might emerge as a viable therapeutic option for the maintenance treatment of CSA or as a bridging treatment option before hematopoietic stem cell transplantation.

Profile of Anemia in Cirrhotic Patients at the National Hospital of Niamey

Objective: To study the profile of anemia in cirrhotic patients diagnosed in the Hepato-Gastroenterology (HGE) department of the National Hospital of Niamey. Patients and Method: This was a prospective and descriptive study carried out from August 1, 2023 to February 29, 2024, including cirrhotic patients, with anemia on the blood count, outside of any recent blood transfusion and/or treatment. History of anemia. Results: The diagnosis of anemia was made in 91 patients out of the 100 cirrhotics recorded, 91%. Men were more common, with a sex ratio of 2.79. The average age was 50 ± 14.22 years old. Anemia was moderate in 52.75% of cases (n = 48). It was non-microcytic in 50.55% (n = 46) and iron deficient in 55.56% of cases (n = 20). There was a statistically significant correlation between the severity of anemia and upper gastrointestinal bleeding with a p-value = 0.000. Conclusion: Cirrhotic anemia is multifactorial, which makes its etiological diagnosis complex.

Parenteral iron therapy in children with iron deficiency anemia

Iron deficiency anemia(IDA)continues to be a global public health problem.Oral iron is the universally accepted first-line therapy,and most children have a prompt and favorable response to oral formulations.In subsets of children who fail to respond due to intolerance,poor adherence,or inadequate intestinal absorption,parenteral iron is indicated.Despite numerous studies in adults with IDA of diverse etiologies,pediatric studies on parenteral iron use are very limited.Although mostly retrospective and small,these studies have documented the efficacy and safety profile of intravenous iron formulations.In this editorial the author comments on the most important published data and underscores the need to seriously consider parenteral iron use in children unresponsive to oral therapy.

Prevalence of Anemia in Patients with Diabetes Mellitus:A Systematic Review and Meta-Analysis

Objective Anemia is a common public health concern in patients with type 2 diabetes worldwide.This study aimed to identify the prevalence of anemia among patients with diabetes.Methods Electronic databases,including PubMed,Scopus,Web of Sciences,and Google Scholar,were searched systematically for studies published between 2010 and 2021.After removing duplicates and inappropriate reports,the remaining manuscripts were reviewed and appraised using theNewcastleOttawa Scale(NOS)tool.A random-effects model was used to calculate the pooled estimates of the extracted data using Stata version 17.Heterogeneity of the studies was assessed using the Q statistic.Results A total of 51 articles containing information on 26,485 patients with diabetes were included in this study.The articles were mainly from Asia(58.82%)and Africa(35.29%).The overall prevalence of anemia was 35.45%(95%CI:30.30–40.76),with no evidence of heterogeneity by sex.Among the two continents with the highest number of studies,the prevalence of anemia in patients with diabetes was significantly higher in Asia[40.02;95%CI:32.72–47.54]compared to Africa[28.46;95%CI:21.90–35.50](P for heterogeneity=0.029).Moreover,there has been an increasing trend in the prevalence of anemia in patients with diabetes over time,from[15.28;95%CI:9.83–22.21]in 2012 to[40.70;95%CI:10.21–75.93]in 2022.Conclusion Globally,approximately 4 in 10 patients with diabetes suffer from anemia.Therefore,routine anemia screening and control programs every 3 months might be useful in improving the quality of life of these patients.