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1.
Genes (Basel) ; 15(6)2024 May 25.
Artigo em Inglês | MEDLINE | ID: mdl-38927619

RESUMO

Fragile X syndrome (FXS) is a genetic disorder caused by a mutation in the fragile X messenger ribonucleoprotein 1 (FMR1) gene and known to be a leading cause of inherited intellectual disability globally. It results in a range of intellectual, developmental, and behavioral problems. Fragile X premutation-associated conditions (FXPAC), caused by a smaller CGG expansion (55 to 200 CGG repeats) in the FMR1 gene, are linked to other conditions that increase morbidity and mortality for affected persons. Limited research has been conducted on the burden, characteristics, diagnosis, and management of these conditions in Africa. This comprehensive review provides an overview of the current literature on FXS and FXPAC in Africa. The issues addressed include epidemiology, clinical features, discrimination against affected persons, limited awareness and research, and poor access to resources, including genetic services and treatment programs. This paper provides an in-depth analysis of the existing worldwide data for the diagnosis and treatment of fragile X disorders. This review will improve the understanding of FXS and FXPAC in Africa by incorporating existing knowledge, identifying research gaps, and potential topics for future research to enhance the well-being of individuals and families affected by FXS and FXPAC.


Assuntos
Proteína do X Frágil da Deficiência Intelectual , Síndrome do Cromossomo X Frágil , Síndrome do Cromossomo X Frágil/genética , Síndrome do Cromossomo X Frágil/epidemiologia , Humanos , Proteína do X Frágil da Deficiência Intelectual/genética , África/epidemiologia , Mutação , Expansão das Repetições de Trinucleotídeos/genética
2.
Gastroenterology ; 167(1): 64-78, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38460606

RESUMO

Celiac disease (CeD) is a chronic immune-mediated condition triggered by gluten consumption in genetically predisposed individuals. Approximately 1% of the general population is affected by the disorder. Disease presentation is heterogeneous and, despite growing awareness among physicians and the public, it continues to be underestimated. The most effective strategy for identifying undiagnosed CeD is proactive case finding through serologic testing in high-risk groups. We reviewed the most recent evidence on the association between CeD and more than 20 conditions. In light of this review, CeD screening is recommended in individuals with (1) autoimmune disease and accompanying symptoms suggestive of CeD; (2) diseases that may mimic CeD (eg, irritable bowel syndrome [IBS], inflammatory bowel disease [IBD], and microscopic colitis); and (3) among patients with conditions with a high CeD prevalence: first-degree relatives, idiopathic pancreatitis, unexplained liver enzyme abnormalities, autoimmune hepatitis, primary biliary cholangitis, hyposplenism or functional asplenia with severe bacterial infection, type 1 diabetes mellitus, Hashimoto's thyroiditis and Graves' disease, Sjögren's syndrome, dermatitis herpetiformis, recurrent aphthous syndrome and enamel defects, unexplained ataxia, peripheral neuropathy, delayed menarche or premature menopause, Down syndrome, Turner syndrome, Williams syndrome, chronic fatigue syndrome, IgA nephropathy, and IgA deficiency. CeD serology should be the initial step in the screening process. However, for patients with any of the aforementioned disorders who are undergoing upper endoscopy, biopsies should be performed to rule out CeD.


Assuntos
Doença Celíaca , Humanos , Doença Celíaca/diagnóstico , Doença Celíaca/imunologia , Doença Celíaca/complicações , Doença Celíaca/epidemiologia , Doenças Autoimunes/diagnóstico , Doenças Autoimunes/imunologia , Doenças Autoimunes/epidemiologia , Diagnóstico Diferencial , Doenças Inflamatórias Intestinais/diagnóstico , Doenças Inflamatórias Intestinais/complicações , Testes Sorológicos , Fatores de Risco , Prevalência , Predisposição Genética para Doença
3.
Genes (Basel) ; 15(3)2024 03 03.
Artigo em Inglês | MEDLINE | ID: mdl-38540390

RESUMO

Fragile X syndrome (FXS) is the leading inherited cause of intellectual disability (ID) and single gene cause of autism. Although most patients with FXS and the full mutation (FM) have complete methylation of the fragile X messenger ribonucleoprotein 1 (FMR1) gene, some have mosaicism in methylation and/or CGG repeat size, and few have completely unmethylated FM alleles. Those with a complete lack of methylation are rare, with little literature about the cognitive and behavioral phenotypes of these individuals. A review of past literature was conducted regarding individuals with unmethylated and mosaic FMR1 FM. We report three patients with an unmethylated FM FMR1 alleles without any behavioral or cognitive deficits. This is an unusual presentation for men with FM as most patients with an unmethylated FM and no behavioral phenotypes do not receive fragile X DNA testing or a diagnosis of FXS. Our cases showed that mosaic males with unmethylated FMR1 FM alleles may lack behavioral phenotypes due to the presence of smaller alleles producing the FMR1 protein (FMRP). However, these individuals could be at a higher risk of developing fragile X-associated tremor/ataxia syndrome (FXTAS) due to the increased expression of mRNA, similar to those who only have a premutation.


Assuntos
Ataxia , Síndrome do Cromossomo X Frágil , Tremor , Masculino , Humanos , Síndrome do Cromossomo X Frágil/genética , Síndrome do Cromossomo X Frágil/complicações , Metilação de DNA/genética , Proteína do X Frágil da Deficiência Intelectual/genética , Mutação
4.
Work ; 79(1): 3-13, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38427519

RESUMO

BACKGROUND: The conditions in the workplace have a critical influence on the mental health of nurses and their attitudes toward their job, which may impact patient care. OBJECTIVE: This cross-sectional study aimed to investigate the association between perceptions of the work environment and fear of COVID-19 experienced by nurses. METHODS: The data were collected using a demographic data form, the Work Environment Scale (WES), and the Fear of COVID-19 Scale. The study was completed with 183 nurses who provide care to COVID-19 patients. RESULTS: The mean scores for the WES and Fear of COVID-19 Scale were 63.59±12.35 and 21.98±8.36, respectively. There was a positive correlation between the points acquired from the "employee fears" section of the WES and the Fear of COVID-19 Scale mean ranks (r = 0.22). There was a weak negative correlation between the Fear of COVID-19 score and the WES "job satisfaction" score (r = -0.214). There was a weak negative correlation between the scores of the Fear of COVID-19 Scale and perceived support at work (r = -0.33) and between the WES scores and weekly working hours (r = -0.27). However, there was a weak to moderate positive correlation between the WES scores and number of days off per week (r = 0.45). CONCLUSIONS: Nurses experience a high fear of COVID-19, and a decrease in their attitudes of the work environment was associated with an increased fear of COVID-19. The fear of COVID-19 may be reduced by various interventions to provide support at work and increase nurses' job satisfaction.


Assuntos
COVID-19 , Medo , Satisfação no Emprego , SARS-CoV-2 , Local de Trabalho , Humanos , COVID-19/psicologia , Estudos Transversais , Medo/psicologia , Local de Trabalho/psicologia , Feminino , Masculino , Adulto , Inquéritos e Questionários , Enfermeiras e Enfermeiros/psicologia , Atitude do Pessoal de Saúde , Pessoa de Meia-Idade , Recursos Humanos de Enfermagem Hospitalar/psicologia , Pandemias , Condições de Trabalho
5.
J Appl Res Intellect Disabil ; 37(3): e13214, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38383947

RESUMO

BACKGROUND: The Fragile X community has expressed a desire for centralised, national guidelines in the form of integrated guidance for Fragile X Syndrome (FXS). METHODS: This article draws on existing literature reviews, primary research and clinical trials on FXS, a Fragile X Society conference workshop and first-hand experience of clinicians who have worked with those living with FXS over many years. RESULTS: The article scopes proposed integrated guidance over the life course, including appendices of symptoms, comorbidities and referral options for FXS and Fragile X Premutation Associated Conditions. CONCLUSION: Integrated guidance would provide an authoritative source for doctors, health professionals, therapists, care workers, social workers, educators, employers, families and those living with FXS, so that a holistic, person-centred approach can be taken across the United Kingdom to garner the best outcomes for those with FXS.


Assuntos
Síndrome do Cromossomo X Frágil , Deficiência Intelectual , Humanos , Síndrome do Cromossomo X Frágil/terapia , Deficiência Intelectual/complicações , Comorbidade , Pessoal de Saúde , Assistência Centrada no Paciente
6.
Biomed Khim ; 68(6): 403-418, 2022 Dec.
Artigo em Russo | MEDLINE | ID: mdl-36573407

RESUMO

The review considers the main molecular biological features of the COVID-19 causative agent, the SARS-CoV-2 virus: life cycle, viral cell penetration strategies, interactions of viral proteins with human proteins, cytopathic effects. We also analyze pathological conditions that occur both during the course of the COVID-19 disease and after virus elimination. A brief review of the biological activities of polysaccharides isolated from various sources is given, and possible molecular biological mechanisms of these activities are considered. Data analysis shows that polysaccharides are a class of biological molecules with wide potential for use in the treatment of both acute conditions in COVID-19 and post-COVID syndrome.


Assuntos
COVID-19 , Humanos , SARS-CoV-2 , Polissacarídeos/farmacologia , Polissacarídeos/uso terapêutico , Proteínas Virais , Antivirais/farmacologia , Antivirais/uso terapêutico
7.
J Hand Surg Am ; 2022 Aug 02.
Artigo em Inglês | MEDLINE | ID: mdl-35931628

RESUMO

PURPOSE: A deeper investigation of medical and musculoskeletal conditions in patients with ulnar longitudinal deficiency (ULD) is needed. The association between the severity of the manifestations of ULD in the hands and forearms has not been firmly established. The purpose of this study was to describe the medical and musculoskeletal conditions associated with ULD and examine the relationship between hand and forearm anomalies. METHODS: The Congenital Upper Limb Differences registry was queried for all patients with a diagnosis of ULD, as defined by the Oberg-Manske-Tonkin classification system, between 2014 and 2020. The patients' demographic information, medical and musculoskeletal comorbidities, radiographs, and clinical images were reviewed. The participants were classified using the Bayne, Cole and Manske, and Ogino classification systems. RESULTS: Of 2,821 patients from the Congenital Upper Limb Differences registry, 75 patients (2.7%) with ULD (14 bilateral), with 89 affected extremities, were included. Hand anomalies were present in 93% of the patients. Approximately 19% of the patients had an associated medical comorbidity, and 20% of the patients had an associated musculoskeletal condition. Cardiac anomalies were present in 8.0% of the patients, and 12% of the patients had a lower extremity abnormality. Radial head dislocation was observed in 13 of 18 patients with Bayne type II or III ULD compared with 8 of 43 patients with other types of unilateral ULD. There was a significant positive association among the Bayne and Ogino, Bayne and Cole/Manske, and Ogino and Cole/Manske classification systems in patients with unilateral ULD. CONCLUSIONS: Associated medical and musculoskeletal conditions are common in patients with ULD, of which cardiac and lower extremity abnormalities are most frequently observed. There is a significant positive association between the severity of forearm anomalies and that of hand anomalies in patients with unilateral ULD. All patients with ULD should undergo a thorough cardiac evaluation by their pediatrician or a pediatric cardiologist. TYPE OF STUDY/LEVEL OF EVIDENCE: Symptom prevalence study III.

8.
Arch Gerontol Geriatr ; 103: 104789, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35981426

RESUMO

The FMR1 gene plays a key role in adult neurogenesis and neuroplasticity, and thus may contribute to age-related health in the population. The current study focused on the "low normal" FMR1 genotype, defined by lower-than-typical numbers of FMR1 CGG repeats (<26), as a potential genetic determinant of age-related health. We characterized the effect of the low normal FMR1 genotype on psychological well-being and motor function in a racially diverse non-clinical sample of older adult women. Women with low CGG repeats were distinguished from those with CGGs falling within the mid-high end of the normal range by reduced performance on multimodal assessments of motor function and psychological well-being, with large effect sizes. Robust continuous associations were also detected between lower CGG repeat length and reduced psychological well-being, balance, and dexterity. Findings suggest that FMR1 may represent an important mediator of individual differences in age-related health; larger epidemiological studies are needed. Given that approximately 23-35% of females carry the low normal genotype, efforts to understand its clinical effects have relevance a broad swath of the aging population.

9.
Pathogens ; 11(4)2022 Apr 06.
Artigo em Inglês | MEDLINE | ID: mdl-35456117

RESUMO

OBJECTIVES: Since the change in the millennium, an increase in cases of alveolar echinococcosis (AE) has been observed in endemic European countries. Previous studies indicate that a significant proportion of the new AE cases have an immunosuppression-associated condition (IAC). The aim of the current study was to determine how IACs impact the number of new AE diagnoses per year and the characteristics of AE at diagnosis and its clinical course at our center. METHODS: Retrospective analysis of 189 patients with AE diagnosed between 2000 and 2021 and participating in the Zurich Echinococcosis Cohort Study (ZECS) included clinical characteristics of AE at diagnosis and report of an IAC, as well as the clinical course during follow-up. RESULTS: Of 189 patients participating in this study, 38 had an IAC reported at, or shortly after, AE diagnosis. Over time, there was a steeper increase in the number of newly diagnosed AE patients without an IAC than the number of patients with IAC. Patients with an IAC were older at diagnosis, more frequently had an incidental finding of AE, smaller mean lesion size, and negative Em18 serology. All but two showed favorable outcomes on the last follow-up. CONCLUSION: IACs have little impact on the increase in new AE cases, as well as on the extent of the disease at diagnosis and clinical course.

10.
J Interv Card Electrophysiol ; 65(1): 287-326, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-35419669

RESUMO

BACKGROUND: Atrial fibrillation (AF) is the most common sustained arrhythmia encountered in clinical practice. The aim of this review was to evaluate the progress made in the management of AF over the two last decades. RESULTS: Clinical classification of AF is usually based on the presence of symptoms, the duration of AF episodes and their possible recurrence over time, although incidental diagnosis is not uncommon. The majority of patients with AF have associated cardiovascular diseases and more recently the recognition of modifiable risk factors both cardiovascular and non-cardiovascular which should be considered in its management. Among AF-related complications, stroke and transient ischaemic accidents (TIAs) carry considerable morbidity and mortality risk. The use of implantable devices such as pacemakers and defibrillators, wearable garments and subcutaneous cardiac monitors with recording capabilities has enabled to access the burden of "subclinical AF". The recent introduction of non-vitamin K antagonists has led to improve the prevention of stroke and peripheral embolism. Agents capable of reversing non-vitamin K antagonists have also become available in case of clinically relevant major bleeding. Transcatheter closure of left atrial appendage represents an option for patients unable to take oral anticoagulation. When treating patients with AF, clinicians need to select the most suitable strategy, i.e. control of heart rate and/or restoration and maintenance of sinus rhythm. The studies comparing these two strategies have not shown differences in terms of mortality. If an AF episode is poorly tolerated from a haemodynamic standpoint, electrical cardioversion is indicated. Otherwise, restoration of sinus rhythm can be obtained using intravenous pharmacological cardioversion and oral class I or class III antiarrhythmic is used to prevent recurrences. During the last two decades after its introduction in daily practice, catheter ablation has gained considerable escalation in popularity. Progress has also been made in AF associated with heart failure with reduced or preserved ejection fraction. CONCLUSIONS: Significant progress has been made within the past 2 decades both in the pharmacological and non-pharmacological managements of this cardiac arrhythmia.


Assuntos
Fibrilação Atrial , Ablação por Cateter , Acidente Vascular Cerebral , Antiarrítmicos/uso terapêutico , Anticoagulantes/uso terapêutico , Fibrilação Atrial/tratamento farmacológico , Doença do Sistema de Condução Cardíaco/tratamento farmacológico , Humanos , Acidente Vascular Cerebral/prevenção & controle
11.
Cells ; 11(6)2022 03 19.
Artigo em Inglês | MEDLINE | ID: mdl-35326495

RESUMO

The European Fragile X Network met in Wroclaw, Poland, November 2021, and agreed to work towards the eradication of the word "retardation" in regard to the naming of the fragile X gene (FRAXA) and protein (FMRP). There are further genes which have "retardation" or abbreviations for "retardation" in their names or full designations, including FMR1, FMR2, FXR1, FXR2, NUFIP1, AFF1, CYFIP1, etc. "Retardation" was commonly used as a term in years past, but now any reference, even in an abbreviation, is offensive. This article discusses the stigmatisation associated with "retardation", which leads to discrimination; the inaccuracy of using "retardation" in these designations; and the breadth of fragile X syndrome being beyond that of neurodiversity. A more inclusive terminology is called for, one which ceases to use any reference to "retardation". Precedents for offensive gene names being altered is set out. The proposal is to approach the HGNC (HUGO [Human Genome Organisation] Gene Nomenclature Committee) for new terminology to be enacted. Ideas from other researchers in the field are welcomed.


Assuntos
Proteína do X Frágil da Deficiência Intelectual , Síndrome do Cromossomo X Frágil , Proteína do X Frágil da Deficiência Intelectual/genética , Proteína do X Frágil da Deficiência Intelectual/metabolismo , Síndrome do Cromossomo X Frágil/genética , Humanos , Proteínas Nucleares/metabolismo , Polônia , Proteínas de Ligação a RNA
12.
Eur J Cardiothorac Surg ; 62(2)2022 07 11.
Artigo em Inglês | MEDLINE | ID: mdl-35213716

RESUMO

OBJECTIVES: The comparative effectiveness and safety of proton pump inhibitors (PPIs) versus histamine-2 receptor blockers for stress ulcer prophylaxis in the cardiac surgical intensive care unit population is uncertain. Although the Proton Pump Inhibitors versus Histamine-2 Receptor Blockers for Ulcer Prophylaxis Therapy in the Intensive Care Unit (PEPTIC) trial reported a higher risk of mortality in the PPI arm with no difference in gastrointestinal bleeding, detailed information on surgical variables and clinically relevant surgical subgroups was not available. METHODS: The analysis included all Canadian cardiac surgery patients enrolled in the PEPTIC trial. Data were electronically linked using unique patient identifiers to a clinical information system. Outcomes of interest included in-hospital mortality, gastrointestinal bleeding, Clostridium difficile infections, ventilator-associated conditions and length of stay. RESULTS: We studied 823 (50.6%) randomized to PPIs and 805 (49.4%) to histamine-2-receptor blockers. In the intention-to-treat analysis, there were no differences in hospital mortality [PPI: 4.3% vs histamine-2 receptor blockers: 4.8%, adjusted odds ratio (aOR) 0.97, 95% confidence interval (CI) 0.55-1.70], gastrointestinal bleeding (3.9% vs 4.8%, aOR 1.09, 95% CI 0.66-1.81), C. difficile infections (0.9% vs 0.1%, aOR 0.18, 95% CI 0.02-1.59), ventilator-associated conditions (1.6% vs 1.7%, aOR 0.92, 95% CI 0.85-1.00) or median length of stay (9.2 vs 9.8 days, adjusted risk ratio 1.06, 85% CI 0.99-1.13). No significant treatment differences were observed among subgroups of interest or per-protocol populations. CONCLUSIONS: In a secondary analysis of cardiac surgery patients enrolled in the PEPTIC trial in Canada, no differences in effectiveness or safety were observed between use of PPIs and histamine-2 receptor blockers for stress ulcer prophylaxis. CLINICAL TRIAL REGISTRATION NUMBER: anzctr.org.au identifier: ACTRN12616000481471.


Assuntos
Procedimentos Cirúrgicos Cardíacos , Clostridioides difficile , Úlcera Péptica , Úlcera Gástrica , Canadá/epidemiologia , Hemorragia Gastrointestinal/tratamento farmacológico , Histamina/uso terapêutico , Antagonistas dos Receptores H2 da Histamina/efeitos adversos , Humanos , Úlcera Péptica/complicações , Úlcera Péptica/tratamento farmacológico , Úlcera Péptica/prevenção & controle , Inibidores da Bomba de Prótons/efeitos adversos , Úlcera Gástrica/complicações , Úlcera Gástrica/tratamento farmacológico , Úlcera Gástrica/prevenção & controle , Úlcera/complicações , Úlcera/tratamento farmacológico
13.
Clin Genet ; 99(6): 751-760, 2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-33443313

RESUMO

Fragile X syndrome (FXS) is the most common single gene disorder, which causes autism and intellectual disability. The fragile X mental retardation 1 (FMR1) gene is silenced when cytosine-guanine-guanine (CGG) triplet repeats exceed 200, which is the full mutation that causes FXS. Carriers of FXS have a CGG repeat between 55 and 200, which is defined as a premutation and transcription of the gene is overactive with high levels of the FMR1 mRNA. Most carriers of the premutation have normal levels of fragile X mental retardation protein (FMRP) and a normal intelligence, but in the upper range of the premutation (120-200) the FMRP level may be lower than normal. The clinical problems associated with the premutation are caused by the RNA toxicity associated with increased FMR1 mRNA levels, although for some mildly lowered FMRP can cause problems associated with FXS. The RNA toxicity causes various health problems in the carriers including but not limited to fragile X-associated tremor/ataxia syndrome, fragile X-associated primary ovarian insufficiency, and fragile X-associated neuropsychiatric disorders. Since some individuals with neuropsychiatric problems do not meet the severity for a diagnosis of a "disorder" then the condition can be labeled as fragile X premutation associated condition (FXPAC). Physicians must be able to recognize these health problems in the carriers and provide appropriate management.


Assuntos
Ataxia/genética , Síndrome do Cromossomo X Frágil/genética , Tremor/genética , Animais , Feminino , Humanos , Mutação/genética , Insuficiência Ovariana Primária/genética , RNA Mensageiro/genética , Expansão das Repetições de Trinucleotídeos/genética , Repetições de Trinucleotídeos/genética
14.
Medicina (Kaunas) ; 56(11)2020 Nov 05.
Artigo em Inglês | MEDLINE | ID: mdl-33167583

RESUMO

Wolff-Parkinson-White (WPW) syndrome is a rare abnormal condition frequently associated with paroxysmal supraventricular tachycardia (PSVT) and is described as an arrhythmia under the form of increased heartbeat. Currently, there are various possible treatments going from medicines such as adenosine and beta-blockers to cardioversion. The unknown causes of this condition together with the different responses to treatment in each patient make it difficult to establish the best therapeutic approach. In this context, in the current paper, we were interested in reporting the therapeutic options and their efficiency in the case of associated heart or inflammatory conditions in a 13-day-old patient.


Assuntos
Taquicardia Paroxística , Taquicardia Supraventricular , Taquicardia Ventricular , Síndrome de Wolff-Parkinson-White , Eletrocardiografia , Humanos , Recém-Nascido , Taquicardia Paroxística/complicações , Taquicardia Paroxística/diagnóstico , Taquicardia Supraventricular/complicações , Taquicardia Supraventricular/diagnóstico , Taquicardia Supraventricular/tratamento farmacológico , Síndrome de Wolff-Parkinson-White/complicações , Síndrome de Wolff-Parkinson-White/diagnóstico
15.
Front Neurol ; 11: 860, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33013620

RESUMO

Introduction: Cerebral autosomal dominant arteriopathy and subcortical infarct leukoencephalopathy (CADASIL) is the most common form of hereditary stroke caused by a mutation in the NOTCH3 gene located on the short arm of chromosome 19. A small number of published reports describe CADASIL patients who were initially diagnosed as multiple sclerosis. Although it was previously indicated that there was no association between NOTCH3 mutations and multiple sclerosis, the involvement of autoimmune mechanisms among patients with CADASIL has been hypothesized. Case Presentation: Case 1 is a middle-aged woman with initial diagnoses of multiple sclerosis (MS) and myelitis that continued to progress despite treatment with disease-modifying agents. She had occasional migraines, transient blurred vision, and multiple lacunar infarcts. She continued treatment for about 15 years with no significant alleviation and progressive changes on brain MRI; genetic testing was ordered which showed NOTCH3 mutation, and diagnosis was changed to CADASIL with subsequent revision of treatment course. However, the presence of myelitis in this patient is unusual and may raise the question of a concurrent autoimmune process. Case 2 is a woman presenting with vertigo and paresthesia and diagnosed with MS based on an initial brain MRI showing biventricular white matter hyperintensities; however, she was not started on any disease-modifying agents. Her symptoms were reevaluated by a neurologist, and genetic testing was performed for NOTCH 3. Case 3 is a young woman with a history of migraines who initially presented with numbness and gait ataxia which later progressed to speech difficulty and memory loss. A diagnosis of MS was established which was later changed to CADASIL. Conclusion: Since CADASIL is a rare disease, it is imperative to raise awareness of its unique clinical condition as well as variation in its clinical presentations. It is crucial that the overlapping symptoms between MS and CADASIL be thoroughly examined to avoid misdiagnosis and treatment complications. The involvement of autoimmune mechanisms in CADASIL and the role of NOTCH3 gene mutations in provoking an autoimmune process should be further investigated.

16.
Respir Care ; 64(8): 994-1006, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31346074

RESUMO

Implementation of ventilator bundles is associated with reductions in ventilator-associated pneumonia (VAP). However, the new surveillance model of ventilator-associated events (VAEs) has shifted the focus from VAP to objective, generalized signs of pulmonary decompensation not specific to VAP. This raises the question of whether the ventilator bundle also is effective in reducing VAE. This narrative review examined 6 studies published since 2013 that assessed the impact of ventilator bundles on the incidence of VAE, and a seventh study that examined its impact on mortality. All 7 studies were low-level evidence, and only 1 study was prospective. The findings among the studies were inconsistent, and the only prospective study found no difference in bundle adherence between those who did and did not develop VAE. However numerous factors may explain the apparent lack of efficacy. Most of these factors were related to the retrospective nature of the studies, such as suboptimal documentation of bundle procedures and the presence of potential non-modifiable risk factors, as well as insufficient performance of most bundle components. In some studies, low VAE incidence also raised uncertainty about the veracity of results. Despite these limitations, there was evidence suggesting that stress ulcer prophylaxis may increase VAE risk, and oral care with chlorhexidine may increase both VAE and mortality risk. The largest study found significant reductions in duration of intubation with weaning, sedation, and head of bed elevation, as well as reduced mortality risk with weaning and sedation bundle elements. Nonetheless, these studies should be useful in designing future prospective controlled studies to determine what elements of a future prevention bundle might be effective in reducing VAEs. At this juncture, and based on the limited evidence to date, it appears that incorporating daily sedation interruptions and spontaneous breathing trials are the factors most likely to reduce VAEs.


Assuntos
Doença Iatrogênica/prevenção & controle , Pacotes de Assistência ao Paciente , Respiração Artificial/métodos , Ventiladores Mecânicos/efeitos adversos , Humanos , Pneumonia Associada à Ventilação Mecânica/prevenção & controle , Estudos Prospectivos , Respiração Artificial/efeitos adversos , Estudos Retrospectivos , Fatores de Risco , Desmame do Respirador/métodos
17.
J Adv Nurs ; 75(5): 1108-1118, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30507045

RESUMO

AIM: The primary aim of this study is to compare an oropharyngeal suction intervention versus usual care on microaspiration in intubated patients. Secondary aims are to evaluate the intervention on ventilator-associated condition rates, time to occurrence and compare tracheal-oral α-amylase ratios between groups. DESIGN: Prospective randomized clinical trial. METHODS: The study received funding from the National Institutes of Health in February 2014 and Institutional Review Board approval in July 2013. Over 4 years, a convenience sample of 600 orally intubated, ventilated adult patients will be enrolled within 24 hr of intubation. The target sample is 400 participants randomized to the two groups. The intervention involves enhanced suctioning of the mouth and oropharynx every 4 hr, while the usual care group receives a sham suctioning. The research team will deliver usual oral care to all patients every 4 hr and collect oral and tracheal specimens every 12 hr, to quantify α-amylase levels to detect aspiration of oral secretions. Study completers must be enrolled at least 36 hr (baseline and three paired samples). Outcomes include α-amylase levels, percent of positive specimens, ventilator-associated conditions, length of stay, ventilator hours, and discharge disposition. DISCUSSION: Enrolment has closed, and data analysis has begun. Subgroup analyses emerged, contributing to future research knowledge. IMPACT: Standardized interventions have reduced but do not address all risk factors associated with ventilator-associated conditions. This study provides the potential to reduce microaspiration and associated sequelae in critically ill, intubated patients.


Assuntos
Estado Terminal/terapia , Intubação Intratraqueal/efeitos adversos , Cuidados de Enfermagem/normas , Pneumonia Aspirativa/enfermagem , Pneumonia Aspirativa/prevenção & controle , Respiração Artificial/efeitos adversos , Sucção/métodos , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Guias de Prática Clínica como Assunto , Estudos Prospectivos , Fatores de Risco , Método Simples-Cego
18.
S Afr J Commun Disord ; 65(1): e1-e9, 2018 Sep 17.
Artigo em Inglês | MEDLINE | ID: mdl-30326710

RESUMO

BACKGROUND:  South Africa presents with high preterm birth (PTB) and low birth weight (LBW) rates (14.17%). Numerous conditions characterised by language impairment are associated with LBW and/or PTB. Speech-language therapists may fail to identify older children whose language impairment may have originated from LBW and/or PTB. OBJECTIVE:  To describe the frequency of LBW and/or PTB, in comparison with full-term birth, and associated conditions in children at an early communication intervention (ECI) clinic. METHODS:  Retrospective data of 530 children aged 3-74 months were analysed, with 91.9% presenting with language impairment. RESULTS:  Almost 40% had LBW and/or PTB, and late PTB was the largest category. Factors associated with LBW and/or PTB were prenatal risks, including small-for-gestational age, perinatal risks, including caesarean section, and primary developmental conditions. Secondary language impairment was prevalent, associated with genetic conditions and global developmental delay. CONCLUSION:  The frequency of LBW and/or PTB was unexpectedly high, drawing attention to the origins of language impairment in almost 40% of the caseload at the ECI clinic.


Assuntos
Peso ao Nascer , Idade Gestacional , Transtornos do Desenvolvimento da Linguagem/epidemiologia , Adolescente , Adulto , Criança , Pré-Escolar , Humanos , Lactente , Recém-Nascido Prematuro , Transtornos do Desenvolvimento da Linguagem/terapia , Masculino , Idade Materna , Pessoa de Meia-Idade , Estudos Retrospectivos , Fatores de Risco , Índice de Gravidade de Doença , Adulto Jovem
19.
Sud Med Ekspert ; 61(4): 28-31, 2018.
Artigo em Russo | MEDLINE | ID: mdl-30168525

RESUMO

The present article deals with the problems pertaining to the forensic medical diagnostics of the HIV-associated pathological conditions taking into consideration the materials available from the Moscow City Centre for AIDS Prophylaxis and Control with special reference to the number and structure of the diagnosed HIV-associated diseases. We undertook the analysis of co-morbid HIV/AIDS causes of violent and sudden deaths documented at the Bureau of Forensic Medical Expertise of the Moscow Health Department during the period from 2013 till 2016. The study revealed the tendency toward a rise in the number of deaths from the HIV-associated infections including tuberculosis, pneumonias, chronic immunodeficiency conditions refractory to the treatment, and from malignant neoplasms. A peculiar feature of the aforementioned period was the increased age of the deceased subjects. In the cases of violent deaths, the HIV-associated conditions were diagnosed as the concomitant diseases, with the markedly predominant ones being acute drug and alcohol intoxication, injures, and attempts at suicide. The available results of the studies give evidence of the necessity and importance of the cooperative work of the specialists for the further improvement of forensic medical diagnostics and monitoring of HIV-associated conditions.


Assuntos
Infecções Oportunistas Relacionadas com a AIDS , Síndrome da Imunodeficiência Adquirida , Infecções por HIV/complicações , Infecções Oportunistas Relacionadas com a AIDS/mortalidade , Infecções Oportunistas Relacionadas com a AIDS/patologia , Síndrome da Imunodeficiência Adquirida/etiologia , Síndrome da Imunodeficiência Adquirida/mortalidade , Síndrome da Imunodeficiência Adquirida/patologia , Adulto , Autopsia/estatística & dados numéricos , Causas de Morte , Prova Pericial , Feminino , Medicina Legal/métodos , Humanos , Masculino , Pessoa de Meia-Idade , Moscou/epidemiologia
20.
Respir Care ; 63(11): 1413-1420, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-30087192

RESUMO

BACKGROUND: A ventilator-associated events (VAEs) algorithm was developed to detect events in mechanically ventilated subjects using objective parameters, and we aimed to use objective data of fluid balance to identify pulmonary edema-associated VAEs. METHODS: This single-center retrospective cohort study was conducted in a medical ICU and enrolled all mechanically ventilated patients between July 2016 and June 2017. Electronic medical records were reviewed to obtain data regarding ventilator-associated conditions (VACs), infection-related ventilator-associated complications (IVACs), possible ventilator-associated pneumonia (VAP), and traditionally defined VAP. RESULTS: Of the 1,158 mechanically ventilated subjects, 85 (7.3%) subjects developed VAEs with a corresponding incidence rate of 7.7 events per 1,000 ventilator days. Among the 85 subjects with VAEs, 52 (61.2%) were classified as IVACs, while 23 (27.1%) had possible VAP. Notably, pulmonary edema was the main etiology (29.0%) for VAEs in the 62 subjects with non-possible VAP VAEs. Compared with those without pulmonary edema, subjects with pulmonary edema had a higher positive fluid balance 2 d before (+1,228 vs +173.5 mL, P = .005) and 1 d before (+1,622 vs +313 mL, P = .002) the diagnosis of VAE. In the multivariate logistic regression analysis (adjusted odds ratio [OR]) adjusted for potential confounders, an older age (adjusted OR 1.072, 95% CI 1.001-1.147), receiving renal replacement therapy (adjusted OR 8.906, 95% CI 1.454-54.558), and a positive cumulative difference between fluid balance 2 d and 1 d before VAE indexing (adjusted OR 1.527 per L positive, 95% CI 1.153-2.023) were independently associated with pulmonary edema in subjects with VAEs. CONCLUSION: These findings provide epidemiological evidence of VAEs in a medical ICU and showed that fluid balance may be used to identify pulmonary edema-associated VAEs. Further studies are warranted to validate and translate these findings into an automated surveillance system for VAEs.


Assuntos
Pneumonia Associada à Ventilação Mecânica/epidemiologia , Edema Pulmonar/complicações , Edema Pulmonar/diagnóstico , Respiração Artificial/efeitos adversos , Lesão Pulmonar Induzida por Ventilação Mecânica/epidemiologia , Equilíbrio Hidroeletrolítico , Idoso , Idoso de 80 Anos ou mais , Algoritmos , Feminino , Humanos , Incidência , Unidades de Terapia Intensiva , Masculino , Pessoa de Meia-Idade , Pneumonia Associada à Ventilação Mecânica/etiologia , Edema Pulmonar/fisiopatologia , Estudos Retrospectivos , Lesão Pulmonar Induzida por Ventilação Mecânica/etiologia
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