Precise Microdeletion Detection of Prader-Willi Syndrome with Array Comparative Genome Hybridization

Objective Prader-Willi Sydrome （PWS） is a human disorder related to genomic imprinting defect on 15ql 1-13. It is characterized by a series of classic features such as hypotonia, hyperphagia, obesity, osteoporosis, typical facial and body dysmorphosis, hypogonadism, mental and behaviour disorders. Our study was designed to precisely detect the microdeletions, which accounts for 65%-70% of the PWS. Methods Physical and laboratory examinations were firstly performed to diagnose PWS clinically, and to discover novel clinical features. Then the patient was screened with bisulfite-specific sequencing and precisely delineated through high-density array CGH. Results With the bisulfite-specific sequencing, the detected CpG island in the PWS critical region was found homozygously hypermethylated. Then with array CGH, a 2.22 Mb type II microdeletion was detected, covering a region from MKRN3, MAGEL2, NDN, PWRN2, PWRN1, Cl2orf2, SNURF-SNRPN, C/D snoRNAs, to distal of UBE3A. Conclusions Array CGH, after the fast screening of Bisulfite-specific sequencing, is a feasible and precise method to detect microdeletions in PWS patients. A novel feature of metacarpophalangeal joint rigidity was also presented, which is the first time reported in PWS.

Respiratory failure after scoliosis correction surgery in patients with Prader-Willi syndrome: Two case reports

BACKGROUND Sleep-disordered breathing,including hypoventilation and obstructive sleep apnea,is often observed in Prader-Willi syndrome(PWS).Particularly in adolescence,scoliosis causes a progressive restrictive pulmonary pattern,leading to hypoventilation,so timely corrective surgery is required.However,the effect is controversial.In addition,since mental retardation of PWS,patient effort-based respiratory tests may be less reliable.So far,no studies have accurately reported on the comparison of respiratory function before and after corrective surgery,and appropriate respiratory function measurement method in PWS.CASE SUMMARY We present two cases of adolescent PWS with typical characteristics,including obesity,mental retardation,and scoliosis.Two boys,aged 12 and 13,diagnosed with PWS,both underwent scoliosis correction surgery.Before and immediately after surgery,arterial blood tests showed no abnormalities and no respiratory symptoms occurred.However,after 6-7 mo,both patients complained of daytime sleepiness,difficulty sleeping at night,dyspnea on exertion,and showed cyanosis.Hypercapnia and hypoxia were confirmed by polysomnography and transcutaneous CO2 monitoring during sleep and were diagnosed with obstructive sleep apnea and alveolar hypoventilation.It was corrected by nighttime noninvasive ventilation application and normal findings of arterial blood gas were maintained after 6-8 mo follow-up.CONCLUSION Even after scoliosis surgery,“periodic”monitoring of respiratory failure with an“objective”test method is needed for timely respiratory support.

Individuals with hyperphagia can voluntarily fast: Experience from Prader-Willi Syndrome

Relentless pursuit of food is a major characteristic of Prader-Willi Syndrome (PWS). We observed voluntary fasting among PWS individuals during a religious fast. Understanding the mechanisms involved in successful fasting could be an important contribution in developing more effective treatment of this syndrome. We conducted a prospective study to assess whether genotype, motivational attitudes (e.g. religiosity) and control patterns (e.g. different eating habits) would correlate with ability to fast. Among all individuals with PWS in Israel, 32 met inclusion criteria. Prior to the fast, each participant and parents/caregivers were interviewed for demographic, medical and behavioral data and completed questionnaires assessing motivational and control factors. 22 participants completed the fast. This ability was not accounted for by religiosity, demographic, medical variables or genetic subtype. This prospective study documents that in spite of extreme hyperphagia, adolescents and adults with PWS can voluntarily abstain from food for 25 hours;our findings suggest that they are able to activate mechanisms which improve their control of eating for a longer period than expected. The observation that the degree of religiosity did not impact on the ability to fast suggests that these mechanisms may be applicable to a wider range of circumstances and populations. The ability for self-control under special circumstances deserves further study;it may be relevant to other types of severe obesity and possibly lead to improved methods of behavioral modification.

GH treatment, BMI and different genotypes in patients with Prader-Willi syndrome and scoliosis: Is there any relationship?

The purpose of this study is to try to find a protocol defining a clinical diagnostic procedure for the patients to be admitted to the authors’ Institute to receive treatment for either suspected or confirmed diagnosis of spine deformity in Prader-Willi syndrome (PWS). The aim is to evaluate every subject from the diagnostic point of view, assessing variability of clinical expression and evolution of spinal deformity in the light of the related genetic aspects, thus providing a univocal protocol. The present series only includes patients (18 cases) with PWS, 7 hospitalized for surgical treatment of scoliosis, 11 followed-up at the authors’ institute only for conservative treatment of scoliosis. Both BMI tracks (weight/height2) and BMI Z-score (only for children older than 2 years) were assessed. Moreover, the GH treatment was evaluated for each group of patients as follows: being administered, suspended or no treatment. Finally, the gene was compared with BMI. No relationship was observed either between GH treatment and mean BMI or between genetics and mean BMI. More patients should be seen by the authors to confirm or refute the current findings.

Body composition and metabolic syndrome in patients with type 1 diabetes

BACKGROUND In recent years,the prevalence of obesity and metabolic syndrome in type 1 diabetes(T1DM)patients has gradually increased.Insulin resistance in T1DM deserves attention.It is necessary to clarify the relationship between body composition,metabolic syndrome and insulin resistance in T1DM to guide clinical treatment and intervention.AIM To assess body composition(BC)in T1DM patients and evaluate the relationship between BC,metabolic syndrome(MS),and insulin resistance in these indi-viduals.METHODS A total of 101 subjects with T1DM,aged 10 years or older,and with a disease duration of over 1 year were included.Bioelectrical impedance analysis using the Tsinghua-Tongfang BC Analyzer BCA-1B was employed to measure various BC parameters.Clinical and laboratory data were collected,and insulin resistance was calculated using the estimated glucose disposal rate(eGDR).RESULTS MS was diagnosed in 16/101 patients(15.84%),overweight in 16/101 patients(15.84%),obesity in 4/101(3.96%),hypertension in 34/101(33.66%%)and dyslip-idemia in 16/101 patients(15.84%).Visceral fat index(VFI)and trunk fat mass were significantly and negatively correlated with eGDR(both P<0.001).Female patients exhibited higher body fat percentage and visceral fat ratio compared to male patients.Binary logistic regression analysis revealed that significant factors for MS included eGDR[P=0.017,odds ratio(OR)=0.109],VFI(P=0.030,OR=3.529),and a family history of diabetes(P=0.004,OR=0.228).Significant factors for hypertension included eGDR(P<0.001,OR=0.488)and skeletal muscle mass(P=0.003,OR=1.111).Significant factors for dyslipidemia included trunk fat mass(P=0.033,OR=1.202)and eGDR(P=0.037,OR=0.708).CONCLUSION Visceral fat was found to be a superior predictor of MS compared to conventional measures such as body mass index and waist-to-hip ratio in Chinese individuals with T1DM.BC analysis,specifically identifying visceral fat(trunk fat),may play an important role in identifying the increased risk of MS in non-obese patients with T1DM.

Dynamic ultrasonography for optimizing treatment position in superior mesenteric artery syndrome:Two case reports and review of literature

BACKGROUND Superior mesenteric artery(SMA)syndrome is a rare cause of duodenal obstruction by extrinsic compression between the SMA and the aorta(SMA-Ao).Although the left lateral recumbent position is considered effective in the treatment of SMA syndrome,individual variations in the optimal patient position have been noted.In this report,we present two elderly cases of SMA syndrome that exhibited rapid recovery due to ultrasonographic dynamic evaluation of the optimal position for each patient.CASE SUMMARY Case 1:A 90-year-old man with nausea and vomiting.Following diagnosis of SMA syndrome by computed tomography(CT),ultrasonography(US)revealed the SMA-Ao distance in the supine position(4 mm),which slightly improved in the lateral position(5.7–7.0 mm)without the passage of duodenal contents.However,in the sitting position,the SMA-Ao distance was increased to 15 mm accompanied by improved content passage.Additionally,US indicated enhanced passage upon abdominal massage on the right side.By day 2,the patient could eat comfortably with the optimal position and massage.Case 2:An 87-year-old woman with vomiting.After the diagnosis of SMA syndrome and aspiration pneumonia by CT,dynamic US confirmed the optimal position(SMA-Ao distance was improved to 7 mm in forward-bent position,whereas it remained at 5 mm in the supine position).By day 7 when her pneumonia recovered,she could eat with the optimal position.CONCLUSION The optimal position for SMA syndrome varies among individuals.Dynamic US appears to be a valuable tool in improving patient outcomes.

Hepatocardiorenal syndrome in liver cirrhosis:Recognition of a new entity?

Emerging evidence and perspectives have pointed towards the heart playing an important role in hepatorenal syndrome(HRS),outside of conventional understanding that liver cirrhosis is traditionally considered the sole origin of a cascade of pathophysiological mechanisms directly affecting the kidneys in this context.In the absence of established heart disease,cirrhotic cardiomyopathy may occur more frequently in those with liver cirrhosis and kidney disease.It is a specific form of cardiac dysfunction characterized by blunted contractile responsiveness to stress stimuli and altered diastolic relaxation with electrophysiological abnormalities.Despite the clinical description of these potential cardiac-related complications of the liver,the role of the heart has traditionally been an overlooked aspect of circulatory dysfunction in HRS.Yet from a physiological sense,temporality(prior onset)of cardiorenal interactions in HRS and positive effects stemming from portosystemic shunting demonstrated an important role of the heart in the development and progression of kidney dysfunction in cirrhotic patients.In this review,we discuss current concepts surrounding how the heart may influence the development and progression of HRS,and the role of systemic inflammation and endothelial dysfunction causing circulatory dysfunction within this setting.The temporality of heart and kidney dysfunction in HRS will be discussed.For a subgroup of patients who receive portosystemic shunting,the dynamics of cardiorenal interactions following treatment is reviewed.Continued research to determine the unknowns in this topic is anticipated,hopefully to further clarify the intricacies surrounding the liver-heart-kidney connection and improve strategies for management.

Fraser Syndrome: A Case Report

Fraser syndrome is a rare malformative genetic syndrome whose main manifestations are cryptophthalmia, syndactyly, laryngeal atresia and urogenital malformations. We report the observation of a newborn from a non-consanguineous marriage, admitted to the neonatology and neonatal intensive care unit at Day 1 of life for a poly-malformative syndrome. Clinically, the newborn presented with bilateral anophthalmia, cleft palate, dysmorphic facies with a rounded forehead, hypertelorism, micrognathia, low-set ears and a short neck, syndactility and bilateral cryptorchidism. Trans fontanellar ultrasound revealed tri ventricular hydrocephalus. Cerebral MRI angiography showed malformative tri-ventricular hydrocephalus, hypoplasia of the brainstem and cerebellum, and poly-microgyria. Transthoracic and renal ultrasonography were unremarkable, and the chest X-ray was normal. The authors discuss the malformative clinical and para-clinical aspects of this syndrome, multidisciplinary management and the importance of prenatal diagnosis.

Advancements in Lynch Syndrome Management: Applying Immunotherapy for Therapeutic Success

Lynch syndrome is the fourth most common cancer in the United States, with an early age of onset and poor prognosis. Here, we present a unique case of a patient with progressive colon cancer due to a late diagnosis of Lynch syndrome showing excellent response to immunotherapy. A 59-year-old male with a history of rectal cancer 30 years ago came to the hospital due to a fever and further found a large necrotic colon mass. Biopsy was positive for colorectal cancer;however, due to the size of the tumor, the patient was deemed not a surgical candidate and offered hospice with palliative chemotherapy. Based on further workup, the patient was diagnosed with Lynch syndrome, with colon cancer determined to be responsive to Immunotherapy. He was started on JEMPERLI (Dosterlimab-gxly), and after three cycles of therapy, imaging and PET scan were repeated, showing decreased activity and extent of the tumor—a tremendous success.

Adherence to Pharmacotherapy in Post-Menopausal Women with Hypertension or Metabolic Syndrome: Real World Experience

Background: Adherence to medications is dependent upon a variety of factors, including individual characteristics of the patient, interactions with health care providers, and medication complexity. Even though several studies were conducted to test intervention strategies, results are uncertain. Aim: The aim of the study is to assess if a tailored combined intervention strategy improves medication adherence in a large population of post-menopausal women affected by hypertension or metabolic syndrome. Methods: We enrolled 6833 patients aged 50 to 69 years, 85.7% with hypertension, and 14.3% with metabolic syndrome. A network between patients, general practitioners, and cardiologists was established. Interventions included education, adequate information to patients, a simplified scheme of treatment, and periodic adherence assessment. These were either delivered as healthcare provider supports or using modern technology. Medication adherence was estimated by the proportion of days covered for all classes of drugs after the index date. Results: Non-adherent hypertensive women were 297 (5%), and those with metabolic syndrome were 73 (7.4%) (p Conclusions: The rate of non-adherence in both settings of postmenopausal women was 7.7%, much lower than that described in the literature. This rate was increased in patients with metabolic syndrome;probably it is related to the complexity of the therapeutic scheme or to a poor consciousness of the disease. Therefore, implementing a tailored combined intervention can improve significantly patients’ adherence to medical therapy.

Epidemiological, Clinical and Coronary Angiography Aspects of Acute Coronary Syndrome in the Cardiology Department of the Hospital Mother-Child “Le Luxembourg”Mali

Introduction: Cardiac catheterisation plays a fundamental role in the management of acute coronary syndrome. These explorations require heavy, complex and costly equipment and a large team of doctors, nurses and technicians with highly specialized training. Aims: To describe epidemiological, clinical and coronary angiography aspects of patients with acute coronary syndrome. Patients and Methods: Descriptive study from September 2019 to December 2023 in the Cardiology Department of the Hôpital Mère-Enfant of Bamako. Inclusion criteria were patients admitted for coronary angiography with the diagnosis of acute coronary syndrome. Results: During the study period, 1253 patients underwent coronary angiography, 596 of whom had acute coronary syndrome as an indication, representing a hospital frequency of 47%. Sex-ratio was 2.10. Mean age of patients was 58.5 ± 11.39 years. ST elevation acute coronary syndrome was the most common indication with 63.92% of cases. High blood pressure was the main cardiovascular risk factor with 58.7% of cases, and radial access approach was used in 98% of cases. Coronary angiography was pathological in 91.70% of cases (n = 548). Patients with lesions of anterior interventricular artery were 73.73% of cases. Tritruncal lesions accounted for 40.63% of cases. Conclusion: ST elevation acute coronary syndrome is the most frequent manifestation of acute coronary syndrome. Anterior interventricular artery is most often the culprit lesion for our patients.

Clinical evolution of antisynthetase syndrome-associated interstitial lung disease after COVID-19 in a man with Klinefelter syndrome:A case report

BACKGROUND This study presents a case of rapidly developing respiratory failure due to antisynthetase syndrome(AS)following coronavirus disease 2019(COVID-19)in a 33-year-old man diagnosed with Klinefelter syndrome(KS).CASE SUMMARY A 33-year-old man with a diagnosis of KS was admitted to the Department of Pulmonary and Critical Care Medicine of a tertiary hospital in China for fever and shortness of breath 2 wk after the onset of COVID-19.Computed tomography of both lungs revealed diffuse multiple patchy heightened shadows in both lungs,accompanied by signs of partial bronchial inflation.Metagenomic next-generation sequencing of the bronchoalveolar lavage fluid suggested absence of pathogen.A biopsy specimen revealed organizing pneumonia with alveolar septal thickening.Additionally,extensive auto-antibody tests showed strong positivity for anti-SSA,anti-SSB,anti-Jo-1,and anti-Ro-52.Following multidisciplinary discussions,the patient received a final diagnosis of AS,leading to rapidly progressing respiratory failure.CONCLUSION This study underscores the clinical progression of AS-associated interstitial lung disease subsequent to viral infections such as COVID-19 in patients diagnosed with KS.

Clinical features and possible pathogenesis of multiple evanescent white dot syndrome with different retinal diseases and events:a narrative review

●Multiple evanescent white dot syndrome(MEWDS)is a rare fundus disease,characterized by acute vision loss and visual field defects.Many previous studies have explained the possible pathogenesis and clinical features of primary MEWDS.However,as the number of reported cases increases,secondary MEWDS occurs in other related retinal diseases and injuries,exhibiting some special characteristics.The associated retinal diseases include multifocal choroiditis/punctate inner choroidopathy(MFC/PIC),acute zonal occult outer retinopathy,best vitelliform macular dystrophy,pseudoxanthoma elasticum,and ocular toxoplasmosis.The related retinal injury is laser photocoagulation,surgery,and trauma.Although primary MEWDS often have a self-limiting course,secondary MEWDS may require treatment in some cases,according to the severity of concomitant diseases and complications.Notably,MEWDS secondary to MFC/PIC that is prone to forming choroidal neovascularization and focal choroidal excavation,needs positive treatment with corticosteroids.The possible underlying pathogenesis of secondary MEWDS is the exposure of choroidal antigen after the disruption of Bruch’s membrane.The MEWDS-related features in secondary MEWDS are still evanescent under most circumstances.Its prognosis and treatment depend on the severity of complications.Current studies propose that the etiology is associated with immune factors,including viral infection,inflammation in choroid and Bruch’s membrane,and antigen exposure caused by retinal and/or choroidal insults.More pathogenic studies should be conducted in the future.Accurate diagnosis for secondary MEWDS could benefit patients in aspects of management and prognosis.

Nasogastric tube syndrome:A Meta-summary of case reports

BACKGROUND Since its description in 1790 by Hunter,the nasogastric tube(NGT)is commonly used in any healthcare setting for alleviating gastrointestinal symptoms or enteral feeding.However,the risks associated with its placement are often underes-timated.Upper airway obstruction with a NGT is an uncommon but potentially life-threatening complication.NGT syndrome is characterized by the presence of an NGT,throat pain and vocal cord(VC)paralysis,usually bilateral.It is poten-tially life–threatening,and early diagnosis is the key to the prevention of fatal upper airway obstruction.However,fewer cases may have been reported than might have occurred,primarily due to the clinicians'unawareness.The lack of specific signs and symptoms and the inability to prove temporal relation with NGT insertion has made diagnosing the syndrome quite challenging.AIM To review and collate the data from the published case reports and case series to understand the possible risk factors,early warning signs and symptoms for timely detection to prevent the manifestation of the complete syndrome with life-threatening airway obstruction.METHODS We conducted a systematic search for this meta-summary from the database of PubMed,EMBASE,Reference Citation Analysis(https://www.referencecitation-analysis.com/)and Google scholar,from all the past studies till August 2023.The search terms included major MESH terms"Nasogastric tube","Intubation,Gastrointestinal","Vocal Cord Paralysis",and“Syndrome”.All the case reports and case series were evaluated,and the data were extracted for patient demographics,clinical symptomatology,diagnostic and therapeutic interventions,clinical course and outcomes.A datasheet for evaluation was further prepared.RESULTS Twenty-seven cases,from five case series and 13 case reports,of NGT syndrome were retrieved from our search.There was male predominance(17,62.96%),and age at presentation ranged from 28 to 86 years.Ten patients had diabetes mellitus(37.04%),and nine were hypertensive(33.33%).Only three(11.11%)patients were reported to be immunocompromised.The median time for developing symptoms after NGT insertion was 14.5 d(interquartile range 6.25-33.75 d).The most commonly reported reason for NGT insertion was acute stroke(10,37.01%)and the most commonly reported symptoms were stridor or wheezing 17(62.96%).In 77.78%of cases,bilateral VC were affected.The only treatment instituted in most patients(77.78%)was removing the NG tube.Most patients(62.96%)required tracheostomy for airway protection.But 8 of the 23 survivors recovered within five weeks and could be decannulated.Three patients were reported to have died.CONCLUSION NGT syndrome is an uncommon clinical complication of a very common clinical procedure.However,an under-reporting is possible because of misdiagnosis or lack of awareness among clinicians.Patients in early stages and with mild symptoms may be missed.Further,high variability in the presentation timing after NGT insertion makes diagnosis challenging.Early diagnosis and prompt removal of NGT may suffice in most patients,but a significant proportion of patients presenting with respiratory compromise may require tracheostomy for airway protection.

Acute Coronary Syndrome of Young Subjects at the Luxembourg Mother-Child University Hospital in Bamako

Introduction: Acute coronary syndrome is often the first event of coronary disease of young subjects. Objective: To study sociodemographic, clinical, paraclinical, therapeutic and evolutionary aspects of acute coronary syndrome of young subjects. Patients and Methods: Descriptive cross-sectional study with prospective recruitment from October 01, 2020 to March 31, 2022. Were included all patients admitted for acute coronary syndrome whose age was less or equal to 45 years and who had undergone coronary angiography at the Mother-Child University Hospital on Luxembourg from Bamako. Results: During the study period, we collected 60 patient files out of 198. These 60 patient files met our inclusion criteria. Hospital frequency was 30.30%. Average age of patients was 40.43 ± 3.9 years. Sex ratio M/F was 5.3. Main cardiovascular risk factor was smoking tobacco (23.42%), followed by dyslipidemia (13.92%). Functional signs were dominated by angina 62% followed by dyspnea 25.3%. Persistent ST-segment elevation on electrocardiogram was present in 76.4%. Left ventricular systolic dysfunction was present in 26.5%. Time to first medical contact was more than 12 hours in 62.7% of cases. Radial approach was adopted in 94% of cases. Coronary angiography was pathological in 85% (n = 51) of cases. Lesions were single-vessel disease in 47.1% and culprit artery was anterior interventricular in 51% of cases. Dual anti-platelet aggregation was aspirin and ticagrelor in 91.8% of cases. Angioplasty was performed in all patients who had significant abnormalities at coronary angiography. In-hospital mortality was 3.9%. Conclusion: Acute coronary syndromes exist in young Africans with a male predominance. Main cardiovascular risk factor is smoking tobacco. Coronary lesions are single vessel disease in the majority of case. Most of patients meet medical team after 12 hours. Time to first medical contact is a main challenge in our country.

A Budd-Chiari Syndrome Due to C Protein Deficiency: A Case Report at YaoundéGeneral Hospital (Cameroon)

Primary Budd-Chiari syndrome (BCS) is a spontaneously fatal disease characterized by an obstruction of the hepatic venous outflow tract due to thrombosis or a primary disease of the venous wall. The primary form of BCS is extremely rare. This is a disease mainly affecting young adults of both sexes. Clinical manifestations are variable;they can be asymptomatic, acute, or subacute but mostly chronic. Several causes have been identified, such as myeloproliferative syndrome, antiphospholipid syndrome, paroxysmal nocturnal hemoglobinuria, and inherited thrombotic disorders. Data on primary BCS in Sub-Saharan Africa is rare as most publications available are case reports. In these reports, the causes are unknown with poor prognosis in most cases often leading to patient death. We herein present a case report of a male patient diagnosed with a primary BCS at Yaoundé General Hospital (Cameroon) caused by a Protein C deficiency who presented with ascites decompensating liver cirrhosis. Treatment was based on anticoagulants, diuretics and laxatives administration. Two years after the diagnosis, the patient is alive with clinical and paraclinical improvement.

Effects of high-dose glucose-insulin-potassium on acute coronary syndrome patients receiving reperfusion therapy:a meta-analysis

BACKGROUND:This meta-analysis aimed to assess the efficacy of high-dose glucose-insulinpotassium(GIK) therapy on clinical outcomes in acute coronary syndrome(ACS) patients receiving reperfusion therapy.METHODS:We searched the PubMed,Web of Science,MEDLINE,Embase,and Cochrane Library databases from inception to April 26,2022,for randomized controlled trials(RCTs) that compared high-dose GIK and placebos in ACS patients receiving reperfusion therapy.The primary endpoint was major adverse cardiovascular events(MACEs).RESULTS:Eleven RCTs with 884 patients were ultimately included.Compared with placebos,high-dose GIK markedly reduced MACEs(risk ratio [RR] 0.57,95% confidence interval [95% CI]:0.35 to 0.94,P=0.03) and the risk of heart failure(RR 0.48,95% CI:0.25 to 0.95,P=0.04) and improved the left ventricular ejection fraction(LVEF)(mean difference [MD] 2.12,95% CI:0.40 to 3.92,P=0.02) at 6 months.However,no difference was observed in all-cause mortality at 30 d or 1 year.Additionally,high-dose GIK was significantly associated with increased incidences of phlebitis(RR 4.78,95% CI:1.36 to 16.76,P=0.01),hyperglycemia(RR 9.06,95% CI:1.74 to 47.29,P=0.009) and hypoglycemia(RR 6.50,95% CI:1.28 to 33.01,P=0.02) but not reinfarction,hyperkalemia or secondary reperfusion.In terms of oxidative stress-lowering function,high-dose GIK markedly reduced superoxide dismutase(SOD) activity but not glutathione peroxidase(GSH-Px) or catalase(CAT) activity.CONCLUSION:Patients with ACS receiving reperfusion therapy exhibited a reduction in MACEs and good oxidative stress-lowering eflcacy in response to high-dose GIK.Moreover,with a higher incidence of complications such as phlebitis,hyperglycemia,and hypoglycemia.Furthermore,there were no observed survival benefits associated with high-dose GIK.More trials with long-term follow-up are still needed.

Metabolic syndrome and the urinary microbiome of patients undergoing percutaneous nephrolithotomy

Objective:To identify possible stone-promoting microbes,we compared the profiles of microbes grown from stones of patients with and without metabolic syndrome(MetS).The association between MetS and urinary stone disease is well established,but the exact pathophysiologic relationship remains unknown.Recent evidence suggests urinary tract dysbiosis may lead to increased nephrolithiasis risk.Methods:At the time of percutaneous nephrolithotomy,bladder urine and stone fragments were collected from patients with and without MetS.Both sample types were subjected to expanded quantitative urine culture(EQUC)and 16 S ribosomal RNA gene sequencing.Results:Fifty-seven patients included 12 controls(21.1%)and 45 MetS patients(78.9%).Both cohorts were similar with respect to demographics and non-MetS comorbidities.No controls had uric acid stone composition.By EQUC,bacteria were detected more frequently in MetS stones(42.2%)compared to controls(8.3%)(p=0.041).Bacteria also were more abundant in stones of MetS patients compared to controls.To validate our EQUC results,we performed 16 S ribosomal RNA gene sequencing.In 12/16(75.0%)sequence-positive stones,EQUC reliably isolated at least one species of the sequenced genera.Bacteria were detected in both“infectious”and“non-infectious”stone compositions.Conclusion:Bacteria are more common and more abundant in MetS stones than control stones.Our findings support a role for bacteria in urinary stone disease for patients with MetS regardless of stone composition.

Late Diagnosis of Turner Syndrome in Adulthood;a Case Study from the Endocrinology-Diabetology Nutrition Department of the National Hospital of Pikine Senegal

Introduction: Turner syndrome is a rare genetic disorder characterised by the presence of one X chromosome and the absence of part or all of an X or Y chromosome and patients may experience delayed puberty and infertility. Our study aimed to evaluate the diagnostic delay in our practice and analyze the impact of this diagnostic delay on the effectiveness of patient management. Patients and Methods: Turner syndrome patients were identified from the endocrinology-diabetology nutrition department Database We examined the records of patients in whom the karyotype analysis favoured Turner syndrome. Results: We have selected 5 patients’ records of female patients with Turner syndrome. The mean age was 25, ranging from 19 to 29 years. Primary amenorrhea and characteristic dysmorphic features were observed in all patients. One married patient, who sought consultation for infertility, expressed a desire for pregnancy. Short stature was identified in 3 patients. Primary hypothyroidism and hypertension were respectively found in 1 and 2 patients. Gonadal dysgenesis was noted in 100% of cases. Karyotype analysis revealed monosomy X in 2 patients and mosaic patterns in others. All patients received estrogen-progestin treatment. Antihypertensive therapy was initiated for 2 patients. One patient is on L-thyroxine. In the short term, treatment led to the onset of menstruation after the initial months. Evaluation of treatment efficacy on internal genital organs is yet to be performed. Due to uncertain benefits at this age, growth hormone therapy was not considered for our patients. We provided counseling on assisted reproductive options for couples desiring to conceive. In our study, all patients were placed on estrogen-progestin therapy, and the response appeared favorable. Conclusion: In our practice, the diagnosis of Turner syndrome occurs very late in adulthood, at an age when growth hormone treatment is nearly ineffective. Treatment typically revolves around estrogen-progestin therapy, along with managing other comorbidities such as hypertension and primary hypothyroidism.

Percutaneous Coronary Intervention in Acute Coronary Syndromes at the Mother-Child University Hospital Luxembourg in Bamako

Introduction: Acute coronary syndromes (ACS) are a diagnostic and therapeutic emergency. Objective: Studying the feasibility, difficulties and results of coronary angioplasty in acute coronary syndromes at the Luxembourg Mother-Child University Hospital in Bamako. Patients and Methods: Cross-sectional, descriptive study with prospective recruitment over 18 months from September 2020 to February 2022. All patients aged at least 18 years old admitted for SCA and having undergone PCI during the study period were included. Result: We collected 249 patients for SCA, of whom 160 underwent angioplasty, either an angioplasty/SCA ratio of 0.64. The average age of the patients was 59.54 ± 11.62 with extremes of 32 and 92 years. The age group of 45 to 65 years was the most representative. The predominance was male, sex ratio of 2.4. The main cardiovascular risk factors were high blood pressure (58.23%) and diabetes (45.78%). Persistent ST-segment elevation on the electrocardiogram was present in 71.48%. The treatment time was more than 12 hours after the first medical contact in 95.5%. The approach was radial in 96.5% of cases. Coronarography was pathological in 91.16% of our patients. The lesions were tri-truncular in 34.13% with the anterior inter ventricular as culprit artery in 72% of cases. The majority of patients (64%) had undergone angioplasty with implantation of an active stent. Angioplasty was performed successfully in 98% and per procedural mortality was 1.87%. Only 6.45% of ACS with ST elevation benefited from primary angioplasty. Conclusion: Percutaneous coronary intervention is performed routinely in our center with satisfactory results. Difficulties exist, related to the diagnostic delay of ACS and the high cost of angioplasty.