This case study describes the successful short-term outcome of staged minimally invasive pectus excavatum correction and endoscopic mitral valve repair in a patient with severe mitral valve regurgitation and pectus excavatum.
Late-onset nasolacrimal duct obstruction (NLDO) as a result of inflammatory processes causing dacryostenosis 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.
The Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines were elaborated to allow authors of such papers to identify quality articles for inclusion in their scholarly work. However, we have identified several issues that point to an over-reliance on the PRISMA guidelines. Firstly, we question the rigor of implementation by authors and the rigor of verification by peer reviewers and editors, and whether they have screened papers to ensure adherence to the PRISMA guidelines. Secondly, we have identified cases where the PRISMA criteria led to as much as 99.97% of the published literature being ignored, suggesting that valid publications meeting these criteria might be at risk of being ignored. Thirdly, we have noted that exclusion is not only a quantitative problem—it is also a qualitative one, since the screening procedure groups all non-conforming literature into one basket. Fourthly, we have noted that seven copies of the PRISMA guidelines exist. This being the case, which one should be cited? To replace over-reliance on PRISMA screening, we encourage authors, peer reviewers, and editors to publish systematic reviews and meta-analyses that respect the dual criteria of scientific plausibility and diversity of included papers.
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.
Objective: 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.
Methods: 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.
Results: 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.
Conclusions: 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.
To the Editor:
I have followed, with great interest, the passionate debate held between Lichtman, and Ashkenazi and Olsha in Rambam Maimonides Medical Journal. Lichtman put forward a curious and enlightening proposal to offer a fractional value to each author, depending on the value of their relative contribution, with the total amounting to 1, as a way to reduce authorship abuses, such as gift or guest authorship, which are two very prevalent forms of authorship abuses in academic publishing today.
Background: 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.
Aim: 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.
Results: 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.
Conclusions: 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.
Background: Parental caregivers of children with special needs manage their child’s daily tasks, taking on responsibilities such as making health and financial decisions, assisting with routine activities, and ensuring their safety from self-harm. The level of a child’s disability determines the amount of time and effort a caregiver must invest, with higher disability levels meaning greater dependency and thus requiring greater support. While rewarding, caregiving may also be highly demanding. The parental caregiver’s physical and mental health can decline due to stress, potentially leading to anxiety and depression, and may worsen pre-existing conditions. This research aimed to provide insights into the psychological well-being of parental caregivers, shedding light on their challenges and needs for better support and intervention.
Methods: This study examined the psychological health of parental caregivers of special needs children at a special education school in Puducherry, India. Following an orientation program, 66 parental caregivers volunteered and provided informed consent to participate. The mean age of the parents was 38.4 years (±6.6). Demographic details were collected, and psychological parameters were assessed using standardized scales: Zarit Burden Interview–Caregiver Burden Scale (ZBI-CBS), Depression, Anxiety, Stress Scale (DASS-21), Pittsburgh Sleep Quality Index (PSQI), World Health Organization Quality of Life—brief form (WHOQOL-BREF).
Results: The study findings revealed that most parents experienced caregiver burden and poor sleep quality, consistent with previous studies. Specifically, 93.9% of parents had poor sleep, while 84.8% reported caregiver burden. Additionally, 89.4% of the parents experienced depression, 89.4% have anxiety, and 86.4% have stress. Quality of life was low across all domains.
Conclusion: The stress of managing their child’s needs can negatively impact parental caregivers’ physical and psychological health. Providing counseling and promoting healthy lifestyle choices can significantly enhance caregivers’ overall well-being.
Purpose: This study was aimed at identifying biomarkers that could help exclude pulmonary embolism (PE) in patients aged 65 years and older, considering age-related challenges such as atypical clinical presentations and the presence of comorbidities.
Methods: This single-center cohort study retrospectively collected data on 28 potential markers from patients aged 65 years and older who underwent computed tomography scans for PE diagnosis in emergency or internal wards over a 2.5-year period.
Results: The study included 157 patients after exclusions, with 35 diagnosed with PE. Patients with PE exhibited higher D-dimer levels, lower platelet counts, and higher Padua scores. Six markers were selected based on likelihood ratio, each with an area under the curve above 0.7 and P-value below 0.05. Multiplying D-dimer levels with the Padua score (PaDd) improved specificity from 9% to 32% while maintaining 100% sensitivity in identifying PE. Further refinement by incorporating activated partial thromboplastin time (aPTT) into the Padua score multiplied by D-dimer (PaDd/aPTT) resulted in improved sensitivity and specificity.
Conclusion: The Padua score multiplied by D-dimer is a simple yet effective tool that enhances specificity while maintaining high sensitivity, potentially reducing computed tomography utilization in elderly patients. Prospective, multicenter studies are needed to validate these findings and integrate them into routine clinical practice.
Background: An odontogenic keratocyst is presently considered a cyst by the 2017 World Health Organization (WHO) classification, even though, at times, it shows highly aggressive behavior and a high recurrence rate. Ki-67 is a protein associated with the proliferative activity of the intrinsic cell populations. In tumors, Ki-67 is associated with tumor aggressiveness. This study aimed to compare the Ki-67 expression rates of odontogenic keratocysts to those of other odontogenic cysts and normal mucosa.
Materials and Methods: A retrospective cross-sectional study was conducted using pathology samples retrieved from the archives of a tertiary care center to evaluate Ki-67 expression. Histopathologically confirmed cases of odontogenic keratocysts, radicular cysts, dentigerous cysts, and ameloblastomas were selected. The standardized immunohistochemistry streptavidin–biotin detection system HRP-DAB method was employed for analysis.
Results: All the odontogenic keratocysts pathology samples demonstrated some degree of Ki-67 expres¬sion: mild, moderate, and severe Ki-67 expressions were identified in 26.7%, 53.3%, and 20.0% of the samples, respectively. Compared to the odontogenic keratocyst samples, the samples from dentigerous cysts, periapical cysts, ameloblastomas, and normal mucosa demonstrated no Ki-67 expression in 33.3%–66.7% of the samples, mild expression in 13.3%–40.0%, moderate expression in 0%–33.3%, and severe expression in none of the samples (P<0.001).
Conclusions: Ki-67 was either moderately or severely overexpressed in the majority of odontogenic keratocyst samples. The 2017 WHO classification, which reclassifies keratocystic odontogenic tumors as cysts, conflicts with our findings.
