Co‐occurring medical conditions in adults with Down syndrome: A systematic review toward the development of health care guidelines

Adults with Down syndrome (DS) represent a unique population who are in need of clinical guidelines to address their medical care. The United States Preventive Service Task Force (USPSTF) has developed criteria for prioritizing conditions of public health importance with the potential for providing screening recommendations to improve clinical care. The quality of existing evidence needed to inform clinical guidelines has not been previously reviewed. Using the National Library of Medicine (NLM) database PubMed, we first identified 18 peer reviewed articles that addressed co‐occurring medical conditions in adults with DS. Those conditions discussed in over half of the articles were prioritized for further review. Second, we performed detailed literature searches on these specific conditions. To inform the search strategy and review process a series of key questions were formulated a priori. The quality of available evidence was then graded and knowledge gaps were identified. The number of participating adults and the design of clinical studies varied by condition and were often inadequate for answering all of our key questions. We provide data on thyroid disease, cervical spine disease, hearing impairment, overweight‐obesity, sleep apnea, congenital heart disease, and osteopenia‐osteoporosis. Minimal evidence demonstrates massive gaps in our clinical knowledge that compromises clinical decision‐making and management of these medically complex individuals. The development of evidence‐based clinical guidance will require an expanded clinical knowledge‐base in order to move forward.     

Co‐occurring medical conditions in adults with Down syndrome: A systematic review toward the development of health care guidelines. Part II

Adults with Down syndrome (DS) represent a unique population who are in need of clinical guidelines to address their medical care. Many of these conditions are of public health importance with the potential to develop screening recommendations to improve clinical care for this population. Our workgroup previously identified and prioritized co‐occurring medical conditions in adults with DS. In this study, we again performed detailed literature searches on an additional six medical conditions of clinical importance. A series of key questions (KQ) were formulated a priori to guide the literature search strategy. Our KQs focused on disease prevalence, severity, risk‐factors, methodologies for screening/evaluation, impact on morbidity, and potential costs/benefits. The available evidence was extracted, evaluated and graded on quality. The number of participants and the design of clinical studies varied by condition and were often inadequate for answering most of the KQ. Based upon our review, we provide a summary of the findings on hip dysplasia, menopause, acquired cardiac valve disease, type 2 diabetes mellitus, hematologic disorders, and dysphagia. Minimal evidence demonstrates significant gaps in our clinical knowledge that compromises clinical decision‐making and management of these medically complex individuals. The creation of evidence‐based clinical guidance for this population will not be possible until these gaps are addressed.     

传染性非典型肺炎后股骨头坏死的病因及治疗

背景：大部分非典型肺炎患者在康复早期出现了不同程度的髋关节滑囊炎并逐步发展为股骨头坏死。 目的：分析非典型肺炎后遗症股骨头坏死各种病因,并介绍股骨头坏死治疗方法。 方法：由第一作者应用计算机检索PubMed、中国期刊全文数据库(CNKI)、维普数据库和万方数据库1997年1月至2012年8月相关文献。在标题、摘要、关键词中以“传染性非典型肺炎,后遗症,股骨头坏死,骨缺血,病因,传染性非典型肺炎病毒,保守治疗,手术治疗,全髋置换”或“infectious atypical pneumonia sequela, femoral head necrosis, bone ischemia, etiology, infectious atypical pneumonia virus, conservative treatment, operation treatment, total hip replacement”为检索词进行检索,初检得到872篇,最终选择56篇文献进行综述。 结果与结论：传染性非典型肺炎后遗症股骨头坏死与患者在治疗过程中使用激素剂量大小、使用时间长短、患者对激素敏感程度及使用的方法及患者本身分泌的瘦素及骨降钙素量的多少有密切关系,还与传染性非典型病毒本身的作用有密切关系。由于这些病因导致股骨头坏死,先采用保守治疗减慢股骨头坏死的进程,延迟假体的置换,最终大部分患者还是采用手术治疗,传染性非典型肺炎后遗症股骨头坏死晚期置入假体置换是治疗股骨头坏死最好的结果。     

Causes of death in patients with Down syndrome in 2014–2016: A population study in Japan

Despite the higher mortality rates in patients with Down syndrome compared with the general Japanese population, the life span has dramatically increased in Japan and other countries. We aimed to clarify recent causes of death in patients with Down syndrome in Japan. We calculated proportionate mortality and standardized mortality odds ratios (SMORs) among all deaths registered with Down syndrome as the cause of death (ICD-10 code, Q90) in the Japanese National Death Registry Database in 2014–2016. In the study period, 762 in patients with Down syndrome died. The main causes of death were pneumonia/respiratory infections (20.5%), congenital malformations of the circulatory system (11.2%), other diseases of the circulatory system (9.2%), and aspiration pneumonia (8.4%). The SMORs (95% confidence intervals) were higher for natural death, defined as death of an elderly person with no other cause of death to be mentioned (55.73 [36.92–84.12]), early-onset Alzheimer's disease, defined as Alzheimer's disease with onset <65 years of age (29.36 [16.44–52.44]), aspiration pneumonia (18.33 [14.03–23.96]), pneumonia/respiratory infections (8.11 [6.76–9.73]), congenital malformations of the circulatory system (8.07 [5.98–10.88]), and leukemia/lymphoma (2.16 [1.55–2.99]) but lower for malignant solid tumors (0.04 [0.02–0.06]) in patients with Down syndrome. Patients with Down syndrome had the greatest relative risk of dying from natural death, early-onset Alzheimer's disease, and respiratory illnesses, highlighting the need for appropriate medical, health, and welfare services.     

A systematic review of population screening for fragile X syndrome

PurposeTo conduct a systematic review of literature regarding population-based screening for fragile X syndrome in newborns and women of reproductive age, either before or during pregnancy.MethodsSeven electronic databases were searched for English language studies published between January 1991 and November 2009. Data extraction was performed for all included studies. Results were synthesized using a narrative approach.ResultsOne article that examined offering newborn screening for fragile X syndrome and 10 that examined the offer of fragile X syndrome screening to women of reproductive age were identified. Two of these articles also addressed psychosocial aspects of population screening for fragile X syndrome such as attitudes to screening and experiences of screening, and a further nine addressed these issues alone. Studies exploring psychosocial issues demonstrated challenges for counseling arising from a lack of awareness or personal experience with fragile X syndrome in the general population.ConclusionsTargeted counseling and educational strategies will be essential to support women from the general population. It is crucial that future studies offering screening for fragile X syndrome explore a range of psychosocial aspects in addition to looking at uptake of testing and mutation frequency.     

Low adherence to national guidelines for thyroid screening in Down syndrome

PurposeTo determine adherence to the American Academy of Pediatrics guidelines for thyroid screening in children with Down syndrome among primary care providers in the states of Oklahoma and Nebraska.MethodsWe sought to identify all children with Down syndrome born in Oklahoma and Nebraska between 1994 and 2004 and review their medical records for evidence of thyroid screening. Patients were identified through a State Department of Health birth defects registry in Oklahoma and through participation in genetics clinics and laboratories in Nebraska and Oklahoma. Charts obtained from primary care providers were reviewed and the number of actual thyroid screens was compared with the number of recommended screens for each individual during the study period.ResultsIn Oklahoma, 13% of participating children received all thyroid screens recommended in the guidelines. In Nebraska, 14% of children received all recommended thyroid screenings. Among participants in Oklahoma, a mean of 34% of recommended thyroid screenings were performed. In Nebraska, a mean of 45% of recommended thyroid screenings were performed.ConclusionsThe level of adherence to the American Academy of Pediatrics guidelines for thyroid screening in children with Down syndrome is low. Factors contributing to this low level of adherence need to be identified and addressed.     

Severe adenovirus pneumonia in immunocompetent adults: a case report and review of the literature

Adenovirus is a frequent cause of mild self-limiting upper respiratory tract infection, gastroenteritis, and conjunctivitis in infants and young children. Fatal infections (severe pneumonia progressing to respiratory failure, septic shock and/or encephalitis) are rare among immunocompetent adults. We report a case of severe adenovirus pneumonia in a young immunocompetent male who presented with sudden onset respiratory distress that progressed rapidly to respiratory failure and made a successful recovery on supportive measures. Systematic review of the literature identified 14 cases of severe adenovirus pneumonia (defined as respiratory failure requiring ventilatory support at any point during the course of illness) in otherwise healthy immunocompetent adults both in epidemic and community settings. We describe the clinical characteristics, radiological features, and outcome of identified cases.     

Histopathology and etiology of childhood pneumonia: an autopsy study of 93 patients in Bangladesh

The causes and pathogenesis of severe childhood pneumonia in a developing country were studied in lungs removed at autopsy from 119 Bangladeshi children who presented with pneumonia and/or diarrhea. Pneumonia was observed in 93 patients. Morphologic features included acute alveolar exudate in 51% (of the 93 patients), necrotizing pneumonia in 31%, interstitial pneumonia in 22%, and caseating granulomas in 4%, while a mixed pattern occurred in 16% of patients. Causes of pneumonia were Gram-negative bacteria in 27%, pneumococcus in 8%, cytomegalovirus (CMV) in 8%, Pneumocystis carinii (PC) in 4%, mycobacteria in 3%, aspergillus in 3%, mixed anaerobes in 3%, viral (not CMV) in 2%, Staphylococcus aureus in 1% and ascaris in 1%. Two causative agents were identified in 7% of patients. In 46% of the cases, no etiologic agent was identified. Our data suggest that most pneumonias had a bacterial etiology; however, viruses, including CMV, and other opportunistic organisms such as PC, were also important pathogens. Gram-negative pneumonia was partially attributed to concomitant intestinal infections. Opportunistic infections resulted from malnutrition and debilitated host defenses during prolonged fatal illnesses.     

Respiratory mycoplasmosis in surgical patients

Respiratory organs of 35 patients older than 60 years, taken at random: dying after the operation with pneumonia, were studied. Pneumonia was of a various etiology, including respiratory mycoplasmosis in 13 patients. The latter was induced by Myc. pneumoniae, this being proved by immunofluorescent and serological examination. Small-focal lesions including characteristic changes of alveolocytes and bronchocytes were found in the lungs. Clinico-anatomical comparison allowed the conclusion that respiratory mycoplasmosis developed not infrequently before the operation.     

Recommendations for antibacterial therapy in adults with COVID-19 – an evidence based guideline

ScopeThe Dutch Working Party on Antibiotic Policy constituted a multidisciplinary expert committee to provide evidence-based recommendation for the use of antibacterial therapy in hospitalized adults with a respiratory infection and suspected or proven 2019 Coronavirus disease (COVID-19).MethodsWe performed a literature search to answer four key questions. The committee graded the evidence and developed recommendations by using Grading of Recommendations Assessment, Development, and Evaluation methodology.Questions addressed by the guideline and RecommendationsWe assessed evidence on the risk of bacterial infections in hospitalized COVID-19 patients, the associated bacterial pathogens, how to diagnose bacterial infections and how to treat bacterial infections. Bacterial co-infection upon admission was reported in 3.5% of COVID-19 patients, while bacterial secondary infections during hospitalization occurred up to 15%. No or very low quality evidence was found to answer the other key clinical questions. Although the evidence base on bacterial infections in COVID-19 is currently limited, available evidence supports restrictive antibiotic use from an antibiotic stewardship perspective, especially upon admission. To support restrictive antibiotic use, maximum efforts should be undertaken to obtain sputum and blood culture samples as well as pneumococcal urinary antigen testing. We suggest to stop antibiotics in patients who started antibiotic treatment upon admission when representative cultures as well as urinary antigen tests show no signs of involvement of bacterial pathogens after 48 hours. For patients with secondary bacterial respiratory infection we recommend to follow other guideline recommendations on antibacterial treatment for patients with hospital-acquired and ventilator-associated pneumonia. An antibiotic treatment duration of five days in patients with COVID-19 and suspected bacterial respiratory infection is recommended upon improvement of signs, symptoms and inflammatory markers. Larger, prospective studies about the epidemiology of bacterial infections in COVID-19 are urgently needed to confirm our conclusions and ultimately prevent unnecessary antibiotic use during the COVID-19 pandemic.     

Acute respiratory infections in children who have died and the role of the DIC syndrome in these diseases

The results of several years study of the acute respiratory infections (ARI) (pneumonias) are summarized. Their high frequency in dying children is found (72% of autopsy cases in all Leningrad pediatric hospitals). Their etiology is usually complex: viral ARI were in 62.9%, bacterial--56.1%, mycoplasma--8.9%. Structural changes are described in some poorly known ARI (herpetic, cytomegalic, pneumocystic). The distribution of various ARI between hospitals and the etiology of children pneumonia in cases of the death at home (381 cases) or in hospitals (447 cases) are analysed when the autopsy was performed in the same pathology department with detail laboratory investigation. Pneumonias in these groups differed in the etiology and manifestations, first because of bacterial infections. In 114 children the incidence and manifestations of DIC syndrome were studied and this syndrome was shown to have a considerable importance in thanatogenesis particularly during first days of the disease and when the generalization of infections occurs.     

Are coinfections with COVID-19 and influenza low or underreported? An observational study examining current published literature including three new unpublished cases

As the coronavirus disease-2019 (COVID-19) pandemic continues, one major point of uncertainty is the impact this novel pathogen will have during the upcoming 2020 to 2021 flu season. While the influenza virus is a known contributor to human morbidity and mortality, the question of how a coinfection between COVID-19 and influenza might manifest is of utmost concern. The aim of this study was to review the limited cases of COVID-19/influenza coinfection currently available in the literature, along with cases in the community of El Paso, TX, to determine whether any patterns of clinical presentation and morbidity emerged. An international review of the literature was conducted. Six published articles describing COVID-19/influenza coinfection were identified, with a total of 13 patients described therein. Three additional patients were identified from the El Paso, TX data. The most common presenting symptoms were fever and cough. The most common laboratory findings were elevated C-reactive protein and lymphocytopenia. Thirteen patients presented with viral pneumonia findings on CT, and nine had findings of ground-glass opacity. Finally, complications were reported in six patients, with most common complication being acute respiratory distress syndrome. The results of the review indicate that, due to the similarity in presentation between COVID-19 and influenza, further analysis will be required to understand the effects of coinfection on morbidity and mortality. However, the limited number of coinfection cases in the literature indicates that the implementation of COVID-19 control measures may continue to play a role in limiting the spread of these human respiratory pathogens.     

Clericuzio type poikiloderma with neutropenia is distinct from Rothmund-Thomson syndrome

Two siblings from a consanguineous family presented with a poikiloderma of limbs and face, plantar keratoderma, and toenail pachyonychia. Neutropenia and neutrophil dysfunction with impairment of the respiratory burst and bacterial killing resulted in frequent respiratory tract infections. A bronchocentric granulomatous pneumonia was a fatal complication. The clinical presentation is consistent with Clericuzio type poikiloderma with neutropenia. Literature review identified several additional probable patients. Genetic linkage analysis excluded the locus of the RECQL4 gene, mutations in which have been described in some patients with the Rothmund-Thomson poikiloderma syndrome. This report confirms the clinical and genetic identity of the Clericuzio type of poikiloderma with neutropenia syndrome.     

Etiology,seasonality, and clinical characterization of viral respiratory infections among hospitalized children in Beirut,Lebanon

Acute respiratory tract viral infections occur worldwide and are one of the major global burdens of diseases in children. The aim of this study was to determine the viral etiology of respiratory infections in hospitalized children, to understand the viral seasonality in a major Lebanese hospital, and to correlate disease severity and the presence of virus. Over a 1‐year period, nasal and throat swabs were collected from 236 pediatric patients, aged 16‐year old or less and hospitalized for acute respiratory illness. Samples collected were tested for the presence of 17 respiratory viruses using multiplex real‐time RT‐PCR. Pathogens were identified in 165 children (70%) and were frequently observed during fall and winter seasons. Co‐infection was found in 37% of positive samples. The most frequently detected pathogens were human Rhinovirus (hRV, 23%), Respiratory Syncytial Virus (RSV, 19%), human Bocavirus (hBov, 15%), human Metapneumovirus (hMPV, 10%), and human Adenovirus (hAdV, 10%). A total of 48% of children were diagnosed with bronchiolitis and 25% with pneumonia. While bronchiolitis was often caused by RSV single virus infection and hAdV/hBoV coinfection, pneumonia was significantly associated with hBoV and HP1V1 infections. No significant correlation was observed between a single viral etiology infection and a specific clinical symptom. This study provides relevant facts on the circulatory pattern of respiratory viruses in Lebanon and the importance of using PCR as a useful tool for virus detection. Early diagnosis at the initial time of hospitalization may reduce the spread of the viruses in pediatric units. J. Med. Virol. 88:1874–1881, 2016 . © 2016 Wiley Periodicals, Inc.

     

The impact of screening for social risks on OBGYN patients and providers: A systematic review of current evidence and key gaps

BackgroundIncreasingly, policymakers and professional organizations support screening for social assets and risks during clinical care. Scant evidence exists on how screening impacts patients, providers, or health systems.ObjectiveTo systematically review published literature for evidence of the clinical utility of screening for social determinants of health in clinical obstetric and gynecologic (OBGYN) care.Search StrategyWe systematically searched Pubmed (March 2022, 5,302 identified) and identified additional articles using hand sorting (searching articles citing key articles (273 identified) and through bibliography review (20 identified)).Selection CriteriaWe included all articles that measured a quantitative outcome of systematic social determinants of health (SDOH) screening in an OBGYN clinical setting. Each identified citation was reviewed by two independent reviewers at both the title/abstract and full text stages.Data Collection and AnalysisWe identified 19 articles for inclusion and present the results using narrative synthesis.Main ResultsThe majority of articles reported on SDOH screening during prenatal care (16/19) and the most common SDOH was intimate partner violence (13/19 studies). Overall, patients had favorable attitudes towards SDOH screening (in 8/9 articles measuring attitudes), and referrals were common following positive screening (range 5.3%-63.6%). Only two articles presented data on the effects of SDOH screening on clinicians and none on health systems. Three articles present data on resolution of social needs, with inconsistent results.ConclusionsLimited evidence exists on the benefits of SDOH screening in OBGYN clinical settings. Innovative studies leveraging existing data collection are needed to expand and improve SDOH screening.     

Human immunodeficiency virus in cadavers: A review

Millions of people are infected with human immunodeficiency virus (HIV); however, limited research focuses on post‐mortem HIV detection. Post‐mortem HIV testing is vital because medical records are not always available, and the HIV status can be unknown. The aims of this study were to review the available literature and determine the most efficient HIV test for post‐mortem samples, the optimal tissue or bodily fluid to be tested, and the duration that HIV remains reliably detectable. A literature search was conducted using PubMed and Google Scholar. Terms were related to HIV (HIV detection, HIV testing, HIV prevalence) and deceased individuals (post‐mortem, cadaver, deceased, organ donor). Inclusion criteria included English studies, or articles with at least an English abstract, while review articles were excluded. From this literature search, 43 studies were applicable. These studies most commonly used enzyme‐linked immunosorbent assay and Western blot as screening and confirmation tests, respectively. As for the optimal tissue or bodily fluid, serum remained the golden standard, while testing skin seemed promising. HIV remains detectable in the body up to 58 days after death, although few studies tested samples after 48 h. Knowledge of the HIV status can be beneficial in the case of accidental exposure and can create a range of possible research opportunities on the effects of HIV in different organ systems. This review outlined several gaps in the current literature and future studies should investigate these gaps because this information can be relevant to numerous professions. Clin. Anat. 32:603–610, 2019. © 2019 Wiley Periodicals, Inc.     

A rare cause of bacteremia in a pediatric patient with Down syndrome: Sphingomonas paucimobilis

Sphingomonas paucimobilis, is a yellow-pigmented, aerobic, non fermentative, gram negative motile bacillus. S. paucimobilis which is widely found in nature and hospital environments rarely cause serious or life threatening infections. In this report, a case of hospital acquired bloodstream infection due to S. paucimobilis in a patient with Down syndrome who was on treatment for presumed pneumonia is presented. A one year-old child patient who was a known case of Down syndrome and had previously experienced cardiac surgery was hospitalized and treated for pneumonia. On the 12th day of hospitalization, blood cultures were taken because of a high body temperature. One of the blood cultures was positive for gram-negative rods. After 48 hour of incubation, the sub-cultures on blood agar medium yielded pure growth of a yellow, non-fermentative, gram-negative, rod-shaped bacterium. The microorganism was positive for oxidase, and esculin hydrolysis, while negative for urea and nitrate reduction, citrate utilisation and motility. The isolate had been identified as S. paucimobilis by using Vitek 2 system. The antibiotic susceptibility test was also performed with the same system and the strain was found to be susceptible to piperacillin-tazobactam and other antibiotics. Treatment with intravenous piperacilin-tazobactam (150 mg/kg/day) was initiated. He responded well to the treatment and was discharged after 10 days. This case is reported to emphasize that S. paucimobilis should be kept in mind as a nosocomial infectious agent in patients with Down syndrome and immunosuppressive patients and the infections should be treated according to the sensitivity test results.     

Human Metapneumovirus: lessons learned over the first decade

It has been 10 years since human metapneumovirus (HMPV) was identified as a causative agent of respiratory illness in humans. Since then, numerous studies have contributed to a substantial body of knowledge on many aspects of HMPV. This review summarizes our current knowledge on HMPV, HMPV disease pathogenesis, and disease intervention strategies and identifies a number of areas with key questions to be addressed in the future.     

Churg-Strauss syndrome.

OBJECTIVES: This article discusses the clinical manifestations and treatment protocols of Churg-Strauss syndrome (CSS). A review of the definition, pathophysiology, and prognosis of CSS is included, as well as more recent evidence of the presumed association between antileukotriene antagonists and CSS. DATA SOURCES: Relevant articles in the medical literature derived from searching the MEDLINE database (1966 to present) with key terms Churg-Strauss syndrome, allergic granulomatosis, and allergic granulomatous angiitis. Sources included review articles, meta-analyses, randomized control trials, case reports, case series, and seminal articles, the majority of which had been published within the past decade. STUDY SELECTION: Studies that described the clinical manifestations, pathophysiology, etiology, treatment, or prognosis of CSS. RESULTS: CSS is a systemic vasculitic disorder with multiorgan involvement and diverse presentations. CONCLUSIONS: Recognition of the multiorgan manifestations of CSS is crucial to clinical management. Whether a causal relationship exists between antileukotriene antagonists and onset of CSS remains unclear.     

"非典型肺炎"的临床问题--关于SARS与常见呼吸道疾病鉴别诊断的探讨

去冬今春在亚洲及部分国家和地区发生的“非典型肺炎”，世界卫生组织(WHO)称为重症急性呼吸综合征(SARS)。病因未明，目前有证据表明可能为变异的冠状病毒(SARS病毒)引起，属于急性呼吸道传染病。该病在临床上有其独特的特点，但应注意与普通感冒、流行性感冒、上呼吸道感染和寻常的肺炎鉴别，以便早期诊断SARS病例，预防SARS的复燃。