Meningitis Retention Syndrome in an 11-Year-Old Boy: A Case Report of an Underreported Clinical Scenario in Children

Meningitis retention syndrome (MRS) is an underreported clinical syndrome in children that presents with meningitis and acute retention of urine. It is usually associated with aseptic meningitis, but there are case reports of MRS associated with viral and other kind of meningitis. There is no imaging abnormalities in the brain and spine associated with acute urinary retention. Here we report a case of an 11-year-old boy who presented with signs of meningism and acute urinary retention. Further evaluation revealed features of meningitis in cerebrospinal fluid analysis and normal imaging of the brain and spine. He completely recovered from urinary retention after meningitis treatment. Keywords: Meningitis; Urinary Retention; Child; Case Repor

A review of medical and surgical management of ectopic Pregnancy in Al Wakra Hospital

IntroductionAn ectopic pregnancy is a major cause of maternal morbidity in the short and long term. We propose a descriptive review to highlight management among all patients admitted to AWH with ectopic pregnancy.ObjectivesTo determine the ethnicity of patients diagnosed with ectopic pregnancy.To assess the successful rate of medical and surgical management between these patients. Retrospective chart review from medical records.MethodsA retrospective chart review of 156 patients who are admitted in inpatient obs/ gyn unit with ectopic pregnancy were reviewed.Demographic data, ethinicity, treatment and outcomes were analyzed using a excel sheet.Results156 cases of ectopic pregnancy were admitted in patient obs/gyn department in Al wakra hospital- HMC, Qatar during the period Jan 2020 till Nov. 2022. Patients were classified into two categories based on their management: either medically managed with methotrexate, or surgically.We found that the success rate in patients received one dose of methotrexate was (84%). The success rate of second dose of methotrexate was (6.4%); However (9.6%) went for surgical management due to rupture ectopic or ß-hCG level was more than 5000 IU.In terms of ethnicity, our review showed that the higher proportion of ectopic was seen in the Asian region (65%) compared to 26% in the African region and 9% in the other region. Among them, 36% speak Arabic, and 5% are Qatari.ConclusionMedical management with Methotrexate remains a very effective modality of treatment for ectopic pregnancy. Early identifying of underlying risk factors, diagnosis with the essential aids like transvaginal ultrasound and β-hCG and timely intervention in the form of medical or surgical treatment will definitely help in reducing the morbidity and mortality associated with ectopic pregnancy and to improve the future reproductive outcome.</p

Gonadal mosaicism of large terminal de novo duplication and deletion in siblings with variable intellectual disability phenotypes

Abstract Background Intellectual disability (ID) is a complex condition that can impact multiple domains of development. The genetic contribution to ID’s etiology is significant, with more than 100 implicated genes and loci currently identified. The majority of such variants are rare and de novo genetic mutations. Methods We have applied whole‐genome microarray to identify large, rare, clinically relevant copy number variants (CNVs). We have applied well‐established algorithms for variants call. Quantitative polymerase chain reaction (qPCR) was applied to validate the variants using three technical replicates for each family member. To assess whether the copy number variation was due to balanced translocation or mosaicism, we further conducted droplet digital PCR (ddPCR) on the whole family. We have, as well, applied “critical‐exon” mapping, human developmental brain transcriptome, and a database of known associated neurodevelopmental disorder variants to identify candidate genes. Results Here we present two siblings who are both impacted by a large terminal duplication and a deletion. Whole‐genome microarray revealed an 18.82 megabase (MB) duplication at terminal locus (7q34‐q36.3) of chromosome 7 and a 3.90 MB deletion impacting the terminal locus (15q26.3) of chromosome 15. qPCR and ddPCR experiments confirmed the de novo origin of the variants and the co‐occurrence of these two de novo events among the siblings, but their absence in both parents, implicates an unbalanced translocation that could have mal‐segregated among the siblings or a possible germline mosaicism. These terminal events impact IGF1R, CNTNAP2, and DPP6, shown to be strongly associated with neurodevelopmental disorders. Detailed clinical examination of the siblings revealed the presence of both shared and distinct phenotypic features. Conclusions This study identified two large rare terminal de novo events impacting two siblings. Further phenotypic investigation highlights that even in the presence of identical large high penetrant variants, spectrum of clinical features can be different between the siblings

Review of the Efficacy and Safety of Dinoprostone “Insert”, “Gel”, and “Tablets” for Cervical Ripening and Induction of Labor

IntroductionCervical ripening and induction of labor are common obstetric interventions used to manage pregnancies that have reached or exceeded their due dates, have fetal or maternal complications, or for other medical reasons. Prostaglandins are commonly used for cervical ripening and induction of labor due to their ability to soften and efface the cervix, promote contractions, and facilitate vaginal delivery. Dinoprostone is a synthetic prostaglandin E2 analogue that is available in various formulations, including insert, gel, and tablets. However, there is limited research comparing the efficacy and safety of these different formulations.MethodsWe conducted a retrospective analysis of 181 women who underwent cervical ripening and induction of labor with dinoprostone insert (n=62), gel (n=76), or tablets (n=43) at our hospital. We collected data on patient characteristics, including age, body mass index (BMI), parity, gestational age, initial Bishop score, and indication for induction.Descriptive statistics, including means, standard deviations, and frequencies, were used to evaluate patient characteristics, change in Bishop score, complications, type of birth, time to vaginal delivery, and neonatal outcomes.ResultsThe end bishop score was significantly higher in the insert group (8.32±2.24) compared to the gel (7.2±1.97) and tablet (6.72 ±1.25) groups. Fetal distress and maternal complications were low and similar among the three groups, except for tachysystole, which was more common in the insert group. The time to vaginal delivery was shortest in the tablet group (median=16 hours). Vaginal delivery was the most common mode of delivery in all three groups. Neonatal outcomes were similar among the three groups, except for a higher rate of NICU admission in the gel group.ConclusionThe results of this study suggest that all three forms of dinoprostone are effective and safe for cervical ripening. However, the insert form showed a higher bishop score and a higher incidence of tachysystole, while the tablet form showed a shorter time to vaginal delivery. The gel form had a higher rate of NICU admission. These findings can help clinicians choose the most appropriate form of dinoprostone based on individual patient characteristics and preferences. Further prospective studies are needed to confirm these findings.</p