Epidemiology History Research Articles

COVID-19-induced paraneoplastic polydermatomyositis seropositive for Brucella spp antibodies

Paraneoplastic syndromes, including paraneoplastic dermatoses, represent a pressing problem for dermatovenereologists, infectious disease specialists and therapists due to the necessity of having broad knowledge in related disciplines. Our article examines a clinical case of the onset of paraneorplastic polydermatomyositis against the background of a new coronavirus infection in a patient with exacerbation of paranoid schizophrenia. When paraneoplastic syndrome manifested itself in this clinical situation, a differential diagnostic search was carried out at the junction of several nosological units, such as the locomotor primary latent form of brucellosis, trichinosis, polydermatomyositis, and steroid myopathy. Taking into account the epidemiological history and the fact of the patient’s residing in a rural area, it was first necessary to exclude the infectious nature of these manifestations, as well as autoimmune pathology involving muscles and skin. A wide range of laboratory and instrumental examination methods were carried out, including false-positive IgM results for the causative agent of brucellosis, which can be explained within the framework of paraneoplastic syndrome and the tumor’s synthesis of biologically active substances. The results formed the basis for the entire clinical picture of the disease. Identification of the oncological process, which became possible with the appearance of pathognomonic clinical symptoms, made it possible to establish the histological picture of the disease and to launch treatment for this patient. In addition, the final clinical diagnosis was complicated by the presence of an underlying disease that required constant use of antipsychotics and the lack of control of the ongoing basic pharmacotherapy in the form of monitoring prolactin levels and assessing the general condition of the body systems.

Aerospace Medical Association Proposed Research Priorities for Mental Health and Safety in Aviation

INTRODUCTION: Aviation safety sensitive personnel (SSP) function in highly complex environments. SSP mental health is thought to support safety, efficiency, and overall health. Research is needed to identify how to optimize and screen mental health across aviation SSP, but no consensus exists on the research priorities that need to be met. METHODS: The Aerospace Medical Association established the Mental Health Research Subgroup within the Mental Health Working Group comprising 53 aviation and aerospace medicine professionals representing 9 countries. A five-round Delphi method was employed to generate research priorities. RESULTS: Research priorities were identified under the following six topic areas: 1) Safety and Performance; 2) Mental Health Initiatives, Education, and Peer Support Programs; 3) Clinical Care, Pharmacology, and Return to Duty; 4) Epidemiology and Natural History; 5) Screening, Monitoring, and Emerging Technology; and 6) Special Considerations and Underrepresented Populations [Aerospace Medical Association Mental Health Research Subgroup Research Priorities Version 1.0 (current as of January 1, 2024)]. DISCUSSION: Research is needed to identify how to optimize and screen mental health across aviation SSP. This effort identified six key research priorities to achieve that aim. Hoffman WR, Tvaryanas A, Snyder Q, Spyropoulos BP, Garcia D, Schroeder D, Fahnenbruck G, Trottier K, Overbo S, Santilhano W, Brinks E, Ndoye A, Bongers H, O’Shaughnessy R, Miranda E; Aerospace Medical Association Mental Health Research Subgroup. Aerospace Medical Association proposed research priorities for mental health and safety in aviation. Aerosp Med Hum Perform. 2024; 95(11):845–850.

Epidemiological analysis of pediculosis and the distribution of kdr mutation frequency in head lice populations in Torbat Heydarieh city of Khorasan Razavi Province, Northeastern Iran

Head lice infestations are the most prominent ectoparasitic infection in the world, including Iran, particularly among school children. Recently, numerous cases of infestation have been reported in various provinces of the country. This study aimed to investigate the prevalence of head louse infestations and analyze kdr gene sequences in terms of resistance mutations in the Torbat-e Heydarieh, Mahvelat, and Zaveh cities of Khorasan Razavi Province, Northeast Iran. The data related to the epidemiological and demographic history of head lice populations were extracted from their medical records and analyzed in Excel software. After extracting the genomic DNA, the kdr fragment was amplified using specific primers. The sequences were also analyzed using bioinformatics software. The prevalence of head louse infestations was 1.59% and 1.7% during 2016 and 2017, respectively. Sequence analysis revealed the frequency distribution of two kdr haplotypes, I and V, in the study areas. The increase in head louse infestations in recent years and the simultaneous presence of kdr mutations indicate the need for new treatments and monitoring/controlling resistance to head louse insecticides.

Clinical analysis of 20 cases of perinatal tuberculosis

BackgroundTo analyze the clinical manifestations, diagnostic and therapeutic processes of perinatal tuberculosis in children, providing reference for clinicians in the diagnosis and treatment of this disease.MethodsA retrospective analysis was conducted on the epidemiological history, clinical manifestations, laboratory and imaging findings, and treatment follow-up of 20 cases of perinatal tuberculosis diagnosed in the Second Department of Infectious Disease, Kunming Children’s Hospital, from February 2014 to September 2021.ResultsOf the 20 cases, 13 were male (65.0%) and 7 were female (35.0%). The average age at onset was 35.35 ± 23.03days, with an average time from onset to diagnosis of 24.75 ± 15.55days. Tuberculin skin test (TST) was positive in 1 out of 4 cases (25.0%). Gamma interferon release assays (IGRAs) were positive in 9 out of 17 cases (52.9%).acid-fast staining was positive in 7 out of 16 cases (43.7%), and Mycobacterium tuberculosis nucleic acid polymerase-chain-reaction(PCR) was positive in 14 out of 20 cases (70.0%). Chest CT showed miliary changes in 4 out of 19 cases (21.0%), multiple nodular and patchy opacities in 6 out of 19 cases (31.6%), and pulmonary consolidation and atelectasis in 10 out of 19 cases (52.6%). After anti-tuberculosis treatment, 16 out of 20 cases (80.0%) improved, and no recurrence of tuberculosis was observed during follow-up periods ranging from 9 months to 3 years. The growth and development of these children were similar to those of healthy children.ConclusionThe clinical manifestations and chest imaging features of perinatal tuberculosis are nonspecific. In suspected cases, it is crucial to investigate the mother’s condition thoroughly and complete etiological examinations to achieve early diagnosis and timely treatment, which can improve prognosis.

Mycobacterium tuberculosis evolution from monoresistance to pre-extensive drug resistance during a prolonged household outbreak

Whole genome sequencing (WGS) is sensitive tool for the analysis of tuberculosis transmission and drug-resistance. We used WGS to analyze the Mycobacterium tuberculosis evolution from isoniazid monoresistance to MDR/preXDR during a prolonged household outbreak. The outbreak started with a isoniazid resistant strain (katG S315T mutation) and evolve in two cases to pre-XDR phenotype (with mutations in katG, rpoB, embB, pncA and gyrA genes). Based on WGS data and epidemiological interview we proposed a possible chain of transmission an evolution of the strains.Similar intra-patient and inter-patient acquisition of variability was observed, making difficult to distinguish reinfection or reactivation. Analysis of WGS data together with epidemiological clinical history are discussed in order to distinguish between prolonged infections or transition from latency to reactivation. Classical interview and clinical history taking should be consider to fully understanding WGS data. With a still low incidence of TB cases, Uruguay could use universal WGS of all isolates to reduce time of diagnosis, detect outbreaks and perform public actions to reduce TB incidence.

Choroidal Changes and Choroidal Neovascularization in Pathological Myopia

Among the complications of pathological myopia, myopic macular neovascularization (mMNV) is one of the most vision-threatening complications. Despite significant advances in understanding the epidemiology, pathogenesis, and natural history of the disease, there is no standard definition of mMNV. Although the sensitivity of mMNV diagnosis increases to 97% with the combined use of fundus fluorescein angiography and optical coherence tomography, multimodal imaging is valuable in differential diagnosis. Intravitreal anti-vascular endothelial growth factor therapy has become the standard and first-line treatment option for mMNV. Continued monitoring of patients is required to assess any progression or recurrence.

We Should Celebrate, Not Censor, Learning From Epidemiologic History.

The controversy over whether repeated head impact (RHI)-a feature of occupations including professional contact sports, military service, firefighting, and logging-can cause the neurodegenerative disease now known as CTE (chronic traumatic encephalopathy) has thrust many positive epidemiologic studies into the spotlight. Various skeptics who dispute that the relationship is strong and causal continue to raise objections to these studies and their interpretation. The arguments these skeptics use remind other observers of many past sagas of "manufactured doubt," particularly the history of attempts to cast doubt on the propensity of tobacco products to cause lung cancer. A recent article in the Journal of Science and Medicine in Sport3 complained that drawing the parallel between RHI and cigarettes is unhelpful, concluding that "the time for politically motivated analogies has now passed." This author disagrees, and explains in detail 2 scientific aspects of risk assessment and management that make the analogy apt and instructive for the future. In particular, I argue that the problem of "manufactured doubt" here is two-fold: it relies on various fallacies of reasoning discussed herein, but more importantly, it seeks to divert and delay the utilitarian imperative-while we grope toward the ever-elusive certainty, there are many low-regret actions we can and should take on the basis of persuasive signals of harm.

Comparison and Analysis of Clinical Characteristics of Common COVID-19 and NSIP Patients

Objective: To investigate the relationship between coronavirus disease 2019 (COVID-19) and non-specific interstitial pneumonia (NSIP), with a focus on the clinical features of COVID-19 and NSIP, and the key points of differential diagnosis. Methods: The clinical data of 20 patients with common-type COVID-19 and NSIP admitted to Linyi People’s Hospital from January 21, 2020, to June 21, 2022, were retrospectively analyzed. Gender, age, history of residence in Hubei province, underlying diseases, clinical manifestations, laboratory test results (including blood routine indexes, inflammatory markers, liver function indexes, and coagulation indexes), and computed tomography (CT) scan images were compared between the two groups. Results: COVID-19 patients were younger than NSIP patients (P < 0.05). Nine COVID-19 patients had a travel history to Hubei province, while none of the NSIP patients did (P < 0.05). Eight COVID-19 patients had underlying chronic conditions, fewer than the NSIP group (12 patients; P < 0.05). Both groups experienced symptoms such as shortness of breath, expectoration, fatigue, and runny nose, but fever and cough were more severe and more frequent in the COVID-19 group. Compared to normal reference ranges, both groups exhibited normal white blood cell counts (WBC) and liver function indexes, but elevated lymphocyte counts (LYMP), inflammatory markers, and coagulation indexes, with reduced neutrophil counts (NE). WBC and LYMP were higher in the COVID-19 group compared to the NSIP group. Male patients in the COVID-19 group had higher erythrocyte sedimentation rates and C-reactive protein values than those in the NSIP group, while procalcitonin levels were lower in the COVID-19 group, although the differences were not statistically significant (all P > 0.05). The NE count in the COVID-19 group was significantly lower than in the NSIP group (P < 0.05). Alanine aminotransferase, total bilirubin, and indirect bilirubin were significantly higher in the COVID-19 group compared to the NSIP group (P < 0.05). Chest CT scans of both groups showed bilateral patchy ground-glass opacities, but the lesions in COVID-19 patients were scattered. NSIP patients’ chest CTs showed diffuse lesions centered around the hilum or multiple lesions in both lungs, with pleural involvement being rare. Conclusion: While there are certain specific clinical, laboratory, and imaging findings in both COVID-19 and NSIP, the specificity of these features is not high. Differentiating the two requires careful consideration of epidemiological history, nucleic acid testing, and antigen-antibody levels.

Epidemiology and natural history of chronic Hepatitis B in the Canadian province of Alberta from 2012 to 2021: A population-based study

Introduction and ObjectivesThere are limited recent data on the burden of chronic hepatitis B (CHB) in the North American general population. We aimed to identify the CHB burden from a Canadian population-based perspective. Patients and MethodsUsing a retrospective cohort design, we searched Alberta Analytics administrative databases including the Provincial Laboratory database, to describe CHB epidemiology and natural history in Alberta, Canada between fiscal years 2012-2020. We analyzed incidence and prevalence trends using a Poisson regression model and conducted Kaplan-Meier analyses to examine the incident cohort's survival. ResultsThe age/sex-adjusted incidence of CHB between 2015-2020 was 27.1/100,000 person/years (29.6/100,000 in males and 24.5/100,000 in females) and was highest among individuals aged 45-64 years. Despite a decrease in annual incidence of CHB from 36.4 to 13.4/100,000 between 2015-2020, prevalence increased from 98.9 to 210.3/100,000 in the same period. Of 6,860 incident cases, 2.1% died, and 0.2% underwent liver transplantation during a median follow-up of 3.6 years (interquartile range 2.0-4.9 years). CHB patients had significantly lower survival rates compared to age/sex-matched Canadians, with a standardized mortality ratio of 3.9 (95% confidence interval [CI] 3.3-4.6). Male sex (hazard ratio [HR] 1.7; 95% CI 1.2-2.5), older age at diagnosis (HR, 1.08; 95% CI 1.07-1.09) independently predicted mortality. ConclusionsCHB incidence decreased in Alberta, which is consistent with nationwide trends. Males and individuals aged 45-64 had higher CHB incidence and prevalence. CHB patients’ lower survival rates emphasize the need to address barriers to guideline recommended HBV care linkage.

Evolutionary and epidemiological insights from historical and modern genomes of Xanthomonas oryzae pv. oryzicola, the causal agent of bacterial leaf streak of rice.

Xanthomonas oryzae pv. oryzicola (Xoc) causes bacterial leaf streak (BLS) of rice. This disease represents a major constraint for rice production, a crop feeding more than half of the world's population. Xoc was first described in 1918 in the Philippines and is prevalent in Southeast Asia. Today, BLS is also omnipresent in both East and West Africa where the disease was first reported in the early 1980s. The appearance of Xoc in Africa decades after its first report in Asia suggests that the disease could have been introduced from Asia to Africa. Strict conservation of five Transcription Activator Like (TAL) effectors in whole-genome sequences of 10 strains of Xoc including 3 from West-Africa and 7 from Asia also support this hypothesis. East Africa, and especially Madagascar, where the disease was first described in 1985 is located at the interface between Asia and Africa, hence representing an interesting region to explore the link between strains from Asia and West-Africa. In this study, we i) reconstructed the genome of an historical Xoc strain from herbarium specimen of rice showing symptoms of BLS, sampled in Madagascar in 1931, 50 years before the first description of the disease, and ii) sequenced 9 new modern strains including 5 from Madagascar and East-Africa. The analysis of those new genomes along with previously published ones shed light within the evolutionary and epidemiological history of Xoc.

HIV/AIDS in Papua New Guinea: A Comprehensive Review

This comprehensive review examines the HIV/AIDS epidemic in Papua New Guinea (PNG), a country characterized by its unique cultural and geographical context. Although the global HIV/AIDS crisis began in the early 1980s, PNG’s first case was not recorded until 1987. Since then, the epidemic has significantly impacted the nation, evolving into a critical public health challenge. This review explores the historical context, epidemiology, socioeconomic impacts, and public health responses to HIV/AIDS in PNG. The epidemiological analysis highlights the generalized nature of the epidemic in PNG, with heterosexual transmission being the predominant mode. Key populations, such as sex workers and men who have sex with men (MSM), are disproportionately affected due to social stigma, discrimination, and limited access to healthcare. Regional disparities in prevalence are also notable, with urban areas and certain provinces, particularly in the Highlands region, experiencing higher burdens of the disease. The socioeconomic impacts of HIV/AIDS in PNG are profound, straining the already limited healthcare infrastructure and exacerbating poverty, especially in rural areas. The review discusses how cultural factors, including traditional beliefs, polygamy, and the practice of bride price, contribute to the spread of HIV and hinder public health interventions. Stigma and discrimination further complicate efforts to manage the epidemic, often deterring individuals from seeking testing and treatment. Public health responses in PNG have included preventive campaigns, expanded testing and counseling services, and the introduction of Antiretroviral Therapy (ART) programs. Community-based approaches, such as peer education and support groups, have also played a crucial role in combating the epidemic. Despite these efforts, challenges remain, including geographic isolation, cultural barriers, and limited resources. The review concludes with future directions and recommendations for strengthening PNG’s healthcare infrastructure, addressing stigma and discrimination, enhancing prevention strategies, and investing in research and surveillance. These measures are essential for controlling the HIV/AIDS epidemic and improving the overall health and well-being of the population in Papua New Guinea. Keywords: HIV/AIDS, Papua New Guinea, epidemiology, public health, Antiretroviral Therapy (ART).

Clinical characterization of brucellosis in children from non-pastoral areas: a report of five cases

BackgroundBrucellosis is a global public health concern and occurs mainly in young adults and the elderly, with children having a lower incidence, thus often leading to delayed treatment. This study aimed to describe the epidemiologic features and clinical characteristics of brucellosis in children.MethodsIn this retrospective study, the clinical data of five children diagnosed with brucellosis in Anhui Provincial Children’s Hospital between January 1, 2021 and December 30, 2022 were analyzed.ResultsAll five cases were from non-pastoral areas, among which three have a history of livestock exposure and originated from the countryside. All patients had medium-high grade fever, mostly accompanied by night sweats and malaise, and three had joint pains. Laboratory tests showed that their white blood cell count was normal or mildly raised, with lymphocytes as the predominant cell population. Four patients had anemia, four had aspartate aminotransferase and alanine aminotransferase abnormality, and two had elevated ferritin levels. All blood samples were positive for Brucella culture, one of which had positive bone marrow culture, and all had positive serology test results. All patients were treated with rifampicin, in combination with sulfamethoxazole or doxycycline for 6 weeks following diagnosis. Four children had a good prognosis, but one child had recurrent joint pain.ConclusionsThe epidemiologic history of children from non-pastoral areas with brucellosis is often unclear; clinical manifestations and laboratory tests lack specificity; and they are easily delayed diagnosis. Clinicians should remain vigilant regarding the possibility of this disease in children with fever of unknown origin. The epidemiological history should be investigated in detail to improve the diagnostic ability of brucellosis. We recommend emphasizing serological testing. Children with brucellosis who receive timely diagnosis and standardized treatment can expect a favorable prognosis.

A Multicenter Cross-Sectional Study of the Swiss Cohort of LAMA2-Related Muscular Dystrophy.

LAMA2-related muscular dystrophy (LAMA2-RD) is an autosomal-recessive disorder and one of the most common congenital muscular dystrophies. Due to promising therapies in preclinical development, there is an increasing effort to better define the epidemiology and natural history of this disease. The present study aimed to describe a well-characterized baseline cohort of patients with LAMA2-RD in Switzerland. The study used data collected by the Swiss Registry for Neuromuscular Disorders (Swiss-Reg-NMD). Diagnostic findings were derived from genetics, muscle biopsy, creatine kinase-level and electrophysiological testing, as well as from brain MRIs. Further clinical information included motor assessments (CHOP INTEND, MFM20/32), joint contractures, scoliosis, ophthalmoplegia, weight gain, feeding difficulties, respiratory function, cardiac investigations, EEG findings, IQ and schooling. Eighteen patients with LAMA-RD were included in the Swiss-Reg-NMD as of May 2023 (age at inclusion into the registry: median age 8.7 years, range 1 month - 31 years F = 8, M = 10). Fourteen patients presented with the severe form of LAMA2-RD (were never able to walk; CMD), whereas four patients presented with the milder form (present or lost walking capability; LGMD). All patients classified as CMD had symptoms before 12 months of age and 11/14 before the age of six months. 15 carried homozygous or compound heterozygous pathogenic or likely pathogenic variants in LAMA2 and two were homozygous for a variant of unknown significance (one patient unknown). Brain MRI was available for 14 patients, 13 had white matter changes and 11 had additional structural abnormalities, including cobblestone malformations, pontine hypoplasia and an enlarged tegmento-vermial angle not reported before. This study describes the Swiss cohort of patients with LAMA2-RD and gives insights into measuring disease severity and disease progression, which is important for future clinical trials, as well as for a better clinical understanding and management of patients with LAMA2-RD.

The Dutch Dystrophinopathy Database: A National Registry with Standardized Patient and Clinician Reported Real-World Data.

Duchenne and Becker muscular dystrophy lack curative treatments. Registers can facilitate therapy development, serving as a platform to study epidemiology, assess clinical trial feasibility, identify eligible candidates, collect real-world data, perform post-market surveillance, and collaborate in (inter)national data-driven initiatives. In addressing these facets, it's crucial to gather high-quality, interchangeable, and reusable data from a representative population. We introduce the Dutch Dystrophinopathy Database (DDD), a national registry for patients with DMD or BMD, and females with pathogenic DMD variants, outlining its design, governance, and use. The design of DDD is based on a system-independent information model that ensures interoperable and reusable data adhering to international standards. To maximize enrollment, patients can provide consent online and participation is allowed on different levels with contact details and clinical diagnosis as minimal requirement. Participants can opt-in for yearly online questionnaires on disease milestones and medication and to have clinical data stored from visits to one of the national reference centers. Governance involves a general board, advisory board and database management. On November 1, 2023, 742 participants were enrolled. Self-reported data were provided by 291 Duchenne, 122 Becker and 38 female participants. 96% of the participants visiting reference centers consented to store clinical data. Eligible patients were informed about clinical studies through DDD, and multiple data requests have been approved to use coded clinical data for quality control, epidemiology and natural history studies. The Dutch Dystrophinopathy Database captures long-term patient and high-quality standardized clinician reported healthcare data, supporting trial readiness, post-marketing surveillance, and effective data use using a multicenter design that is scalable to other neuromuscular disorders.

Clinical Insights into Brucella Peritonitis: A Comprehensive Analysis of Four Cases

IntroductionBrucellosis, a globally distributed zoonotic disease, exhibits diverse clinical manifestations, with Brucella peritonitis being a rare but consequential complication.MethodsAnalyzing the medical records of four patients with Brucella peritonitis admitted to the First People’s Hospital of Kashi Region from January 2022 to November 2023. A retrospective approach was used to analyze the general data, epidemiological history, clinical features, laboratory tests, and efficacy. All four patients with Brucella peritonitis were farmers.ResultsAll of them were combined with decompensated stage of liver cirrhosis. The main manifestations were poor appetite, fatigue, bloating. Two patients were accompanied by moderate-high fever. All patients presented with mildly elevated C-reactive protein and procalcitonin < 0.25ng/ml. Brucella was cultured from blood in 2 cases, from pleural fluid in 1 case, and from ascitic fluid in another case. All patients had moderate-to-large amounts of ascites with elevated leukocytes in the ascites, predominantly mononuclear cells. Symptoms of the above patients were reduced or disappeared after effective anti-infection.ConclusionWhen patients with decompensated cirrhosis present with exudative ascites dominated by elevated mononuclear cells, the possibility of Brucella peritonitis should also be considered in areas where brucellosis is endemic.

Research progress and prospects of the application of radiographic imaging in the precise diagnosis and treatment of hepatocellular carcinoma

Hepatocellular carcinoma (HCC) is a highly heterogeneous kind of malignant tumor with a high recurrence rate and low five-year survival rate, which has become one of the major public health issues in China. Currently, HCC is the only solid tumor that can be solely diagnosed based on epidemiological history and typical imaging features without preoperative pathological confirmation. The paradigm for HCC imaging diagnosis has shifted in recent years from anatomy to function, from macroscopic to microscopic, and from diagnosis to prediction in the context of precision medicine, making it possible to study the microscopic processes such as HCC genes and their metabolic laws from the perspective of qualitative and quantitative imaging, thereby providing more accurate biological and imaging information for elucidating the occurrence, development, and clinical treatment decisions of HCC.This paper reviews the research progress of HCC imaging in recent years, demonstrating the rapid horizontal development and enormous potential of imaging in the vertical follow-up of HCC precision diagnosis and treatment. Simultaneously, it also puts forward the shortcomings of current HCC imaging research and looks forward to future development directions in order to be more accurately used in clinical decision support systems.

Periodization of the History of Epidemiology and the Formation of an Interdisciplinary Stage in the Development of This Preventive Discipline

Periodization of the History of Epidemiology and the Formation of an Interdisciplinary Stage in the Development of This Preventive Discipline

[Translated article] Osteoporotic vertebral fractures: Natural history and impact

Osteoporosis, and the consequences derived from it, such as fragility fractures, constitute a growing public health problem. Suffering from a fracture of this nature is the main risk factor for suffering a new fracture.It is documented that vertebral compression fractures lead to significant morbidity and mortality, in the short and long term, as well as other complications, such as sagittal imbalance and hyperkyphosis of the segment. However, we have not found documentation that analyzes the medium and long-term consequences of these injuries, assessing the type of treatment used, and the economic impact they represent.The purpose of this review is to analyse the main recent literature on the subject and make a breakdown of the consequences of these fractures in various spheres, such as economic, quality of life, sagittal balance and radiographic parameters, pain or mortality; as well as a brief analysis of epidemiology and natural history. ConclusionOsteoporotic fractures constitute an emerging problem, both in the medical and economic fields. The consequences and sequelae on the patient are multiple and although surgical options offer good long-term results, it is necessary to properly select the patient, through multidisciplinary teams, to try to minimise potential complications.

Rett syndrome: A coming of age

Rett syndrome (RTT) was first recognized in the late 1950s by Andreas Rett in Vienna and Bengt Hagberg in Uppsala. Hagberg, following a meeting with Rett, decided to call the disorder Rett syndrome in the landmark paper which appeared in the Annals of Neurology in 1983. That report led to the worldwide recognition of this relatively young and unique neurodevelopmental disorder, the concerted effort to establish its epidemiology, etiology, and natural history, and the establishment of clinical criteria for its diagnosis. Our understanding of RTT progressed rapidly, in part due to the remarkable diagnostic advances in genetics linking RTT with variations in the methyl-CpG-binding protein 2 (MECP2) gene at Xq28. In 2003, the NIH funded a Natural History study of RTT and related disorders which provided critical cross-sectional and longitudinal data that resulted in the increased understanding of RTT, the development of better management strategies, and an increase in pharmaceutical and gene-based products designed to provide specific therapies. The FDA-approved oral agent trofinetide has been shown to provide incremental improvements in the core features of RTT. Two gene-based therapies are currently being assessed in clinical trials in Canada and the US. Additional treatment strategies are being assessed at the clinical and translational levels.

Epidemiology, Natural History, and Outcome of Chronic Hepatitis B in Children

Abstract Hepatitis B virus (HBV) infection is a global epidemic whose prevention and control among children warrant significant attention. Despite the availability of effective vaccines, the disease continues to affect millions of children worldwide, underscoring the need for a comprehensive understanding of its epidemiology and natural history in this vulnerable population. While research on HBV in adults has advanced considerably, the natural history of HBV infection in children remains less well-defined and may differ from adult studies due to unique immunological and physiological characteristics. This article reviews the epidemiological characteristics of HBV infection in children worldwide and summarizes the research progress on the natural outcomes of children with chronic HBV infection. Furthermore, the necessity of this review stems from the critical role that early detection, monitoring, and timely intervention play in mitigating the long-term consequences of chronic hepatitis B (CHB) in children. By synthesizing current evidence and identifying knowledge gaps, we hope to inform clinical practice, guide future research directions, and ultimately improve the health outcomes of children living with HBV. In doing so, this review article offers a valuable reference for healthcare providers, researchers, and policymakers working to combat the global challenge of HBV infection among children. The aim is to provide a relevant reference for the monitoring, screening, diagnosis, and treatment of children with CHB.