Acute Bacillus cereus endophthalmitis caused by ocular perforation injury and occult intravitreal cilium implantation:a case report

Dear Editor,We present a case of acute Bacillus cereus(B.cereus)endophthalmitis in a patient with an intraocular perforation injury combined with occult intravitreal cilium implantation.B.cereus endophthalmitis is a severe intraocular infection commonly caused by post-traumatic injuries.It often leads to significant vision loss or even eye loss within 12-48h[1].The presence of an intraocular foreign body(IOFB)increases the risk of infection,while early surgical removal of IOFBs can prevent endophthalmitis,some IOFBs are difficult to detect preoperatively.The Medical Ethics Review Board of West China Hospital of Sichuan University waived application for a clinical study because this was a retrospective report of a single patient based on imaging and because no human experimentation was involved.The patient provided written informed consent to use the imaging data for publication.

Delayed endophthalmitis caused by Gordonia bronchialis after intraocular collamer lens implantation

Dear Editor,We report a case of bacterial endophthalmitis following implantation of a Staar intraocular collamer lens(ICL)caused by Gordonia bronchialis.ICL implantation is an effective method to correct myopia which generally offers excellent safety.There are a few reports of ocular infection caused by Gordonia bronchialis,but no ICL-related endophthalmitis has been reported to date.We present the first case of delayed-onset endophthalmitis after ICL implantation caused by Gordonia bronchialis,identified by metagenomic next-generation sequencing(mNGS).

The Incidence of Endophthalmitis Cases in an Island Nation

Endophthalmitis is a severe ocular infection which can have sight threatening complications and should be treated urgently. Malta is an archipelago in the middle of the Mediterranean sea, with one main hospital (Mater Dei Hospital), where all emergency ophthalmic cases are referred during the years audited. This allowed the authors to review all the cases of endophthalmitis which presented to Mater Dei Hospital from 2009 to 2020 and to be able to reliably compare incidence of local endophthalmitis cases with worldwide quoted incidence rates. All theatre logbooks documenting procedures locally from 2009 to 2020 were reviewed and patients undergoing intravitreal tap and antibiotics injections were included in this audit. This was based on the assumption that all endophthalmitis cases which presented underwent these procedures. Data was analyzed and the average incidence of endophthalmitis cases noted and compared with international numbers. The local numbers are higher than the accepted average, taking into consideration sources of error during data collection for this audit. The authors suggest that a local standard operating procedure in terms of response of suspected endophthalmitis is needed as well as a register for local endophthalmitis cases.

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.

Endogenous Endophthalmitis as a Triggering Factor for Fatal Bacterial Meningitis Caused by Streptococcus pneumoniae: A Case Report

Endogenous endophthalmitis is a rare condition with a poor long-term visual prognosis and significant mortality, often associated with the hematogenous spread of intravitreal infections and subsequent disruption of the blood-ocular barrier. Its anatomical proximity to the central nervous system (CNS) poses a high risk of infection dissemination, although cases documented in the literature are rare, and endogenous endophthalmitis is typically described as secondary to neuroinfections. We report the case of an 82-year-old female patient with a history of hypertension who presented with fever, decreased visual acuity, severe headache, chemosis, and conjunctival injection. Endogenous endophthalmitis was diagnosed, and antimicrobial treatment was initiated alongside surgical intervention by the ophthalmology service. However, the patient’s condition worsened neurologically, and Streptococcus pneumoniae was identified in cerebrospinal fluid cultures. Despite intensive medical treatment, the patient’s clinical course was poor, leading to death.

Endophthalmitis in silicone oil-filled eye: A case report

BACKGROUND Endophthalmitis occurring in silicone oil-filled eyes is a very rare occurrence,with reported incidence rates ranging between 0.07%and 0.039%.Traditional methods of management of infectious endophthalmitis include the removal of silicone oil,washout of the vitreous cavity,administration of intravitreal antibiotics,and reinjection of silicone oil.CASE SUMMARY Herein,we report the case of a 39-year-old man with unilateral endophthalmitis after pars plana vitrectomy and silicone oil tamponade.Intravitreal injections of full-dose antibiotics and anterior chamber washout were used to treat the patient.No signs of retinal toxicity were observed during the follow-up period.CONCLUSION Intravitreal full-dose antibiotic injections and anterior chamber washout are promising alternatives to traditional therapies for endophthalmitis in silicone oilfilled eyes.

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.

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.

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.

Delayed-onset micrococcus luteus-induced postoperative endophthalmitis several months after cataract surgery:A case report

BACKGROUND Micrococcus luteus(M.luteus)-induced endophthalmitis is very rare and and may present as either acute or chronic postoperative endophthalmitis.The aim of this study was to report a case of delayed-onset M.luteus-induced endophthalmitis that occurred several months after cataract surgery.CASE SUMMARY A 78-year-old man presented with decreased vision,pain and redness in the right eye that had begun 3 days prior.He had undergone cataract surgery 4 mo prior.Visual acuity was counting fingers;slit-lamp examination revealed conjunctival injection,posterior corneal precipitates,anterior chamber inflammation(cell 4+),and hypopyon.Fundus examination revealed moderate vitreous haze.Urgent vitrectomy was performed for suspected infectious endophthalmitis,followed by vitreous irrigation with injections of antibiotics.On the postoperative day 1,anterior chamber cell decreased to 2+and hypopyon was not observed on slit lamp examination.Six days postoperatively,the patient had recurrent eye pain,and the anterior chamber cell grade increased to 4+;hypopyon recurred in the anterior chamber,and whitish plaque was observed in the lens capsule.Therefore,the patient underwent intraocular lens(IOL)and lens capsule removal,followed by vitreous irrigation,antibiotics injection,and vitrectomy.M.luteus was identified from a lens capsule culture.CONCLUSION In cases of delayed-onset M.luteus-induced endophthalmitis,early vitrectomy and removal of the IOL and lens capsule may be necessary.

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.

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.

Male and Female Hypogonadisms: Etiological, Metabolic and Osteodensitometric Aspects

Introduction: Studies showed a high prevalence of metabolic abnormalities including dyslipidemia, type 2 diabetes in cases of low testosterone in men and which are associated with increased cardiovascular risk. Hypogonadism represents the second cause of endocrine osteoporosis. Objectives: The objectives of our work were: to determine the main causes of hypogonadism in women and men;to assess the frequency of metabolic and osteosdensitometric abnormalities in the hypogonadal population. Patients and methods: A retrospective descriptive study was carried out over 7 years on 120 patients, hospitalized in the Endocrinology department of the Hassan II University Hospital of Fez-Morocco for hypogonadism. The patients selected were those who had symptoms of hypogonadism confirmed in men by: low total testosterone for Tanner stage in adolescents, ng/ml or lower limit of normal for adults;in women, hypoestrogenia 30 pg/l. Gonadotropin dosage, karyotype, pelvic or testicular ultrasound and pituitary MRI, for etiological diagnosis, were performed. Bone densitometry was performed for bone impact and lipid profile for metabolic profile. Results: Out of 120 patients, there were 77 women and 43 men. The average age was 31.51 years. In men, the main causes were central hypogonadism in 67.4% and primary testicular failure in 32.6%. In women, central hypogonadism was also the most common cause noted in 63.7% and premature ovarian failure was observed in 36.4%. HypoHDL was significantly more frequent p (0.005) in women, osteopenia and osteoporosis were significantly more frequent in women than in men p (0.046). Conclusion: Central causes represent the most common etiology of hypogonadism in both sexes;abnormalities of bone mineralization and metabolic disorders were predominant in women.