Rambam Maimonides Medical Journal最新文献

{"title":"Integration of Bite Mark Microbiome Analysis with Forensic DNA Profiling: Advancements, Challenges, and Synergistic Approaches.","authors":"Palash Arun Mehar, Lina Zamsingh Bhoyar, Archana Laxminarayan Mahakalkar","doi":"10.5041/RMMJ.10528","DOIUrl":"10.5041/RMMJ.10528","url":null,"abstract":"<p><p>Bite mark analysis plays a pivotal role in forensic investigations, by helping to identify suspects and establish links between individuals and crime scenes. However, traditional bite mark methodologies face significant challenges due to issues with reliability and subjectivity. Recent advances in microbiome analysis, which involves identifying and characterizing the microbial communities found in bite marks, have led to the emergence of a promising tool for forensic investigations. The integration of microbiome analysis with conventional DNA profiling enables more accurate interpretation of bite mark evidence in forensic investigations. This review provides an in-depth look at the integration of bite mark microbiome analysis with forensic DNA profiling. It also addresses the challenges and strategies involved in microbiome-based bite mark analysis for forensic purposes.</p>","PeriodicalId":46408,"journal":{"name":"Rambam Maimonides Medical Journal","volume":"15 3","pages":""},"PeriodicalIF":1.4,"publicationDate":"2024-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11294684/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141876301","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Navigating the Complexity of Alternating Hemiplegia in Childhood: A Comprehensive Review.","authors":"Jamir Pitton Rissardo, Nilofar Murtaza Vora, Yogendra Singh, Sweta Kishore, Ana Letícia Fornari Caprara","doi":"10.5041/RMMJ.10529","DOIUrl":"10.5041/RMMJ.10529","url":null,"abstract":"<p><p>Alternating hemiplegia of childhood (AHC) is a complex neurodevelopmental disorder characterized by paroxysmal and transient events of unilateral or bilateral paresis, usually occurring before 18 months of age. Mutations in the ATP1A3 gene, mainly p.Asp801Asn, p.Glu815Lys, and p.Gly947Arg at the protein level, are found in around 80% of the individuals with AHC. Interestingly, these mutations reflect the degree of severity of the neurological symptoms (p.Glu815Lys > p.Asp801Asn > p.Gly947Arg). Some channels involved in this disorder are N-type voltage-gated calcium channels, ATP-sensitive potassium channels, and the sodium/calcium exchanger. In this context, the management of AHC should be divided into the treatment of attacks, prophylactic treatment, and management of comorbidities commonly found in this group of individuals, including epilepsy, attention-deficit/hyperactivity disorder, aggressive behavior, cognitive impairment, movement disorders, and migraine. The importance of an integrated approach with a multidisciplinary team, such as neuropsychologists and dietitians, is worth mentioning, as well as the follow-up with a neurologist. In the present study, we propose new diagnostic criteria for AHC, dividing it into clinical, laboratory, supporting, and atypical features. Also, we review the location of the mutations in the ATP1A3 protein of individuals with AHC, rapid-onset dystonia-parkinsonism (RDP) variants, and early infantile epileptic encephalopathy (variants with hemiplegic attack). We also include a section about the animal models for ATP1A3 disorders.</p>","PeriodicalId":46408,"journal":{"name":"Rambam Maimonides Medical Journal","volume":"15 3","pages":""},"PeriodicalIF":1.4,"publicationDate":"2024-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11294682/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141876304","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"One Page in the History of Starvation and Refeeding.","authors":"Deborah E-S Hemstreet, George M Weisz","doi":"10.5041/RMMJ.10524","DOIUrl":"10.5041/RMMJ.10524","url":null,"abstract":"<p><p>There is a long history of starvation, including reports dated back to antiquity. Despite exceptional scientific developments, starvation still exists today. The medical aspects of starvation were well established in the twentieth century, particularly following studies related to the 1943-1944 Bengal famine in India and starved prisoners of war and survivors of World War 2. The refeeding of the starved victims provided disappointing results. Nevertheless, those studies eventually led to the development of a new branch of research in medicine and to the definition of what is now known as refeeding syndrome. This paper briefly reviews the history and groundwork that led to today's understanding of starvation and refeeding, with a particular emphasis on the observations from studies on starved Holocaust survivors and prisoners of war after World War 2. The relevance of these studies for modern times is briefly discussed.</p>","PeriodicalId":46408,"journal":{"name":"Rambam Maimonides Medical Journal","volume":"15 2","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11065092/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140877570","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Centrality of Trust in Academic Publishing Lies with the Corresponding Author.","authors":"Jaime A Teixeira da Silva","doi":"10.5041/RMMJ.10525","DOIUrl":"10.5041/RMMJ.10525","url":null,"abstract":"","PeriodicalId":46408,"journal":{"name":"Rambam Maimonides Medical Journal","volume":"15 2","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11065096/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140877571","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Underpinnings of the Halachic Approach to BRCA Screening and Intervention: Facilitating Provider Counseling for Observant Jewish Populations.","authors":"Chaya Greenberger, Pnina Mor","doi":"10.5041/RMMJ.10522","DOIUrl":"10.5041/RMMJ.10522","url":null,"abstract":"<p><strong>Background: </strong>Halacha is the corpus of Jewish law which serves as a life blueprint for observant Jewish individuals. Health professionals counseling halachically observant populations at risk for breast cancer gene (BRCA) mutations should be well informed of the halachic approach to screening for BRCA mutations and subsequent interventions.</p><p><strong>Aim: </strong>To address the intersection of halacha with ethical norms and current medical evidence-based data as they relate to potential and identified BRCA mutation carriers at their various stages of decision-making.</p><p><strong>Results: </strong>Halacha, ethics, and medicine have much in common, but there are specific principles which guide halacha; decision-making in light of halacha is complex and varies with respect to the multi-faceted aspects of screening and intervention. Halacha encourages the exercise of autonomy regarding situations in which beneficence is not clear-cut and dependent on subjective perceptions.</p><p><strong>Conclusions: </strong>Health professionals knowledgeable of halacha are better equipped to counsel the observant Jewish population at risk of BRCA mutations or identified as mutation carriers, enabling them to present targeted questions to halachic authorities and thus achieve optimal decision-making.</p>","PeriodicalId":46408,"journal":{"name":"Rambam Maimonides Medical Journal","volume":"15 2","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11065093/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140877574","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Transurethral Resection of the Prostate in Younger Men: Effectiveness and Long-term Outcomes.","authors":"Kamil Malshy, Etan Eigner, Anna Ochsner, John Morgan, Ameer Nsair, Borivoj Golijanin, Michael Mullerad","doi":"10.5041/RMMJ.10520","DOIUrl":"10.5041/RMMJ.10520","url":null,"abstract":"<p><strong>Objectives: </strong>This study aims to investigate the efficacy and outcomes of transurethral resection of the prostate (TURP) in the context of younger male patients.</p><p><strong>Methods: </strong>Males aged ≤55 who underwent TURP at Rambam Health Care Campus from January 2011 to August 2023 were retrospectively reviewed. Clinicodemographic characteristics, indications for surgery, uroflowmetry, pressure-flow study, and early and late postoperative outcomes were collected. Patients with urethral or bladder abnormalities were excluded. Chi-square and Fisher's exact tests were employed for bivariate analysis.</p><p><strong>Results: </strong>Inclusion criteria were met by 58 men who underwent TURP at a median age of 52 years (interquartile range [IQR] 49.5-54). Median prostate size was 35 mL (24.5-56), with median prostate-specific antigen of 1.4 ng/mL (0.65-3.1). A total of 60% of patients used α-blockers, and 19% used 5α-reductase inhibitors pre-surgery. Overall, 54 (93.1%) had severe lower urinary tract symptoms (LUTS), with 34 (59%) being predominantly emptying and 20 (35%) storage. Most surgeries were performed for refractory LUTS in 38 (66%), followed by urinary retention in 16 (28%). At 6 weeks, 57 (98%) patients were catheter-free. The maximum flow rate and residual volume showed significant improvement from a median of 6.85 mL/s to 17.9 mL/s (P<0.001), and from 120 mL to 10 mL (P=0.0142), respectively. Pathology revealed benign prostatic hyperplasia in 53 (91.4%), and inflammation in 5 (8.5%). A total of 13 auxiliary procedures were required in 12 patients (20.7%) during follow-up: 7 transurethral bladder neck incisions, 3 re-TURP, 1 meatus widening, and 1 patient required artificial urinary sphincter implantation followed by simple cystectomy for end-stage bladder.</p><p><strong>Conclusions: </strong>In young men, TURP showed short-term gains in flowmetry and catheter removal rates, but a sustained need for subsequent procedures in the long run. In this unique population, patients should be carefully selected, and alternative, less aggressive, interventions should be considered.</p>","PeriodicalId":46408,"journal":{"name":"Rambam Maimonides Medical Journal","volume":"15 2","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11065095/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140877573","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Changes in the Management of Common Bile Duct Stones: 1980 to Date.","authors":"Ruth Stalnikowicz, Jochanan Benbassat","doi":"10.5041/RMMJ.10521","DOIUrl":"10.5041/RMMJ.10521","url":null,"abstract":"<p><strong>Objective: </strong>To compare the results of treating patients with common bile duct (CBD) stones by endoscopic sphincterotomy (ES), surgical exploration, or a combination of ES and surgical CBD exploration (the rendezvous technique).</p><p><strong>Methods: </strong>A narrative review of the literature.</p><p><strong>Summary of data: </strong>Before 1990, 17 cohort studies indicated that ES cleared CBD stones in 92.0% of patients, with a mortality rate of 1.5%. Surgery removed CBD stones in 90.2% of patients, with a 2.1% mortality rate. A single randomized controlled trial in 1987 showed that ES removed CBD stones in 91% of 55 patients, with a 3.6% mortality rate and a 27% complication rate, whereas surgical CBD exploration removed CBD stones in 92%, with a 1.8% mortality rate and a 22% complication rate. Since 1991, 26 randomized controlled trials have shown that laparoscopic-ES rendezvous is as effective as ES alone and laparoscopic surgery alone but is associated with fewer complications, a reduced need for additional procedures, and a shorter hospital stay.</p><p><strong>Conclusions: </strong>A laparoscopic-ES rendezvous appears to be the optimal approach to the treatment of CBD stones in younger and fit patients. The choice between ES alone and laparoscopic-ES rendezvous in older or high-risk patients remains uncertain.</p>","PeriodicalId":46408,"journal":{"name":"Rambam Maimonides Medical Journal","volume":"15 2","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11065094/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140877569","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Current State of Knowledge on Osteoporosis in Holocaust Survivors and Their Descendants.","authors":"Malvina Hoxha, Visar Malaj","doi":"10.5041/RMMJ.10523","DOIUrl":"10.5041/RMMJ.10523","url":null,"abstract":"<p><strong>Objective: </strong>Starvation in early life can cause poor bone health and metabolic aberrations in bone minerals, leading to abnormal bone development. Holocaust survivors have been exposed to starvation and malnutrition before and during World War II. This paper aims to provide the current state of knowledge on the osteoporosis risk in Holocaust survivors and their descendants.</p><p><strong>Methods: </strong>The PubMed and Scopus databases were searched. Papers that reported original data on the risk of osteoporosis in Holocaust survivors and in their offspring were included in the study.</p><p><strong>Results: </strong>Ten studies were included in this review. The majority of studies were case-control ones (n=7) versus two self-reported and one longitudinal study. Despite the limited cohort numbers and the small number of studies in the literature, the data showed a potential increased risk of osteoporosis in Holocaust survivors and especially in their descendants.</p><p><strong>Conclusions: </strong>The review of these studies showed a higher prevalence of osteoporosis among Holocaust survivors and their offspring. Knowledge of the trans-generational inheritance of osteoporosis in the descendants of Holocaust survivors should increase the awareness of primary care health workers on osteoporosis screening and early diagnosis and implementation of preventive measures, including adequate vitamin D and calcium supplementation, and pharmacological treatment.</p>","PeriodicalId":46408,"journal":{"name":"Rambam Maimonides Medical Journal","volume":"15 2","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11065091/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140877572","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Coronary Artery Surgery: Past, Present, and Future.","authors":"Elizabeth C Ghandakly, Gabriele M Iacona, Faisal G Bakaeen","doi":"10.5041/RMMJ.10515","DOIUrl":"10.5041/RMMJ.10515","url":null,"abstract":"<p><p>Coronary artery bypass grafting (CABG) is the most commonly performed and studied major cardiac operation worldwide. An understanding of the evolution of CABG, including the early days of cardiac surgery, the first bypass operation, continuous improvements in techniques, and streamlining of the operation, is important to inform current trends and future innovations. This article will examine how CABG evolved (from techniques to conduits), describe current trends in the field, and explore what lies on the horizon for the future of CABG.</p>","PeriodicalId":46408,"journal":{"name":"Rambam Maimonides Medical Journal","volume":"15 1","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10807854/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139520502","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Familial Occurrence of Isolated Late-onset Nasolacrimal Duct Obstruction in Two Unrelated Families.","authors":"Anat Bahat Dinur, Ortal Buchbut, Libe Gradstein, Baker Elsana, Ofek Freund, Ohad S Birk, Erez Tsumi","doi":"10.5041/RMMJ.10519","DOIUrl":"10.5041/RMMJ.10519","url":null,"abstract":"<p><p>Late-onset nasolacrimal duct obstruction (NLDO) as a result of inflammatory processes causing dacryo-stenosis is a common entity affecting mostly women. While a few mechanisms have been suggested as contributors to the expression of NLDO, the trigger for the inflammation remains mostly unknown. Familial predilection for this condition has not been previously reported. We present two families with multiple individuals affected with congenital or late-onset NLDO, describe the signs and symptoms of the affected individuals, and explore their medical history for any contributing factors. Family A, spanning four generations, included 7 female patients affected by late-onset NLDO. Family B, spanning two generations, included 8 individuals affected by either congenital or late-onset NLDO. This case series suggests a familial predisposition to NLDO, apparently with an autosomal dominant inheritance pattern. Further studies are needed to elucidate the molecular basis of this genetic predisposition.</p>","PeriodicalId":46408,"journal":{"name":"Rambam Maimonides Medical Journal","volume":"15 1","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10807852/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139520630","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}