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1.
Epilepsy Behav ; 159: 109985, 2024 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-39181112

RESUMO

Developmental and epileptic encephalopathies (DEEs) present significant treatment challenges due to frequent, drug-resistant seizures and comorbidities that impact quality of life. DEEs include both developmental encephalopathy from underlying pathology and epileptic encephalopathy where seizures exacerbate cognitive and behavioral impairments. Classification by syndrome and etiology is essential for therapy and prognosis, with common syndromes like infantile epileptic spasms syndrome and Dravet syndrome having specific first-line treatments. Etiologies are predominantly genetic, structural, or combined, with targeted therapies increasingly available. Surgery aims to improve seizure control but also may improve development, if the epileptic encephalopathy can be ameliorated. Timely intervention can reduce seizures and epileptiform discharges, maximizing developmental potential and allowing reduction in antiseizure medication. In cases requiring extensive resections, new deficits may be offset by developmental gains. Studies indicate that parents are generally willing to accept some deficits for significant seizure reduction.


Assuntos
Epilepsia , Humanos , Epilepsia/cirurgia , Epilepsia/complicações , Espasmos Infantis/cirurgia , Procedimentos Neurocirúrgicos/efeitos adversos , Encefalopatias/complicações , Encefalopatias/cirurgia
2.
Artigo em Inglês | MEDLINE | ID: mdl-39246189

RESUMO

BACKGROUND: Atrioventricular block (AVB) is common in the elderly and therefore considered to be a degenerative disease of the cardiac conduction system. However, there exist other etiologies contributing to AVB in young patients. This study aimed to determine the etiologies in patients aged before 60 years receiving their first pacemaker implantation for AVB in China. METHODS AND RESULTS: Medical records and diagnostic tests of AVB patients were reviewed to identify the etiologies between 2010 and 2021 at Guangdong Provincial People's Hospital. Eight hundred and twenty-six patients (median age 47 years; 47.9% males) were included. The etiologies were identified in 336 (40.7%) cases, including complications to cardiac surgery (n = 190 [23.0%]), myocarditis (n = 57 [6.9%]), myocardial infarction (n = 25 [3.0%]), complications to catheter-based interventional procedures (n = 21 [2.5%]) and others (n = 43 [5.2%]). AVB caused by myocardial infarction was more common in men (5.8% vs. 0.5%, p < .001), while women received pacing treatment earlier (48 vs. 46 years, p = .019). Men were more likely to suffer from dilated cardiomyopathy (6.6% vs. 2.1%, p = .001) and atrial fibrillation/flutter (23.0% vs. 12.8%, p < .001). The number of first pacemaker implantation increased with age especially among patients with unclear etiologies. CONCLUSION: The etiology of AVB was only determined in approximately 40% of patients receiving their first pacemaker implantation aged before 60 years. The predominance of AVB with unknown etiology and potential gender differences warrants further studies.

3.
Eur J Pediatr ; 183(1): 335-344, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37889292

RESUMO

Sudden cardiac arrest (SCA) studies are often population-based, limited to sudden cardiac death, and excluding infants. To guide prevention opportunities, it is essential to be informed of pediatric SCA etiologies. Unfortunately, etiologies frequently remain unresolved. The objectives of this study were to determine paediatric SCA etiology, and to evaluate the extent of post-SCA investigations and to assess the performance of previous cardiac evaluation in detecting conditions predisposing to SCA. In a retrospective cohort (2002-2019), all children 0-18 years with out-of-hospital cardiac arrest (OHCA) referred to Erasmus MC Sophia Children's Hospital or the Amsterdam UMC (tertiary-care university hospitals), with cardiac or unresolved etiologies were eligible for inclusion. SCA etiologies, cardiac and family history and etiologic investigations in unresolved cases were assessed. The etiology of arrest could be determined in 52% of 172 cases. Predominant etiologies in children ≥ 1 year (n = 99) were primary arrhythmogenic disorders (34%), cardiomyopathies (22%) and unresolved (32%). Events in children < 1 year (n = 73) were largely unresolved (70%) or caused by cardiomyopathy (8%), congenital heart anomaly (8%) or myocarditis (7%). Of 83 children with unresolved etiology a family history was performed in 51%, an autopsy in 51% and genetic testing in 15%. Pre-existing cardiac conditions presumably causative for SCA were diagnosed in 9%, and remained unrecognized despite prior evaluation in 13%. CONCLUSION: SCA etiology remained unresolved in 83 of 172 cases (48%) and essential diagnostic investigations were often not performed. Over one-fifth of SCA patients underwent prior cardiac evaluation, which did not lead to recognition of a cardiac condition predisposing to SCA in all of them. The diagnostic post-SCA approach should be improved and the proposed standardized pediatric post-SCA diagnostics protocol may ensure a consistent and systematic evaluation process increasing the diagnostic yield. WHAT IS KNOWN: • Arrests in infants remain unresolved in most cases. In children > 1 year, predominant etiologies are primary arrhythmia disorders, cardiomyopathy and myocarditis. • Studies investigating sudden cardiac arrest are often limited to sudden cardiac death (SCD) in 1 to 40 year old persons, excluding infants and successfully resuscitated children. WHAT IS NEW: • In patients with unresolved SCA events, the diagnostic work up was often incompletely performed. • Over one fifth of victims had prior cardiac evaluation before the arrest, with either a diagnosed cardiac condition (9%) or an unrecognized cardiac condition (13%).


Assuntos
Cardiomiopatias , Cardiopatias , Miocardite , Lactente , Humanos , Criança , Pré-Escolar , Adolescente , Adulto Jovem , Adulto , Estudos Retrospectivos , Países Baixos/epidemiologia , Morte Súbita Cardíaca/etiologia , Morte Súbita Cardíaca/prevenção & controle , Arritmias Cardíacas/complicações , Cardiomiopatias/complicações
4.
BMC Musculoskelet Disord ; 25(1): 270, 2024 Apr 08.
Artigo em Inglês | MEDLINE | ID: mdl-38589862

RESUMO

BACKGROUND: Fractures of hands and feet are common in children, but relevant epidemiological studies are currently lacking. We aim to study the epidemiological characteristics of hand and foot fractures and growth plate injuries in children and provide a theoretical basis for their prevention, diagnosis, and treatment. METHODS: We retrospectively analyzed the data of children with hand and foot fractures who were hospitalized at Shenzhen Children's Hospital between July 2015 and December 2020. Data on demographic characteristics, fracture site, treatment method, etiology of injury, and accompanying injuries were collected. The children were divided into four age groups: infants, preschool children, school children, and adolescents. The fracture sites were classified as first-level (the first-fifth finger/toe, metacarpal, metatarsal, carpal, and tarsal) and second-level (the first-fifth: proximal phalanx, middle phalanx, distal phalanx, metacarpal, and metatarsal) sites. The changing trends in fracture locations and injury causes among children in each age group were analyzed. RESULTS: Overall, 1301 children (1561 fractures; 835 boys and 466 girls) were included. The largest number of fractures occurred in preschool children (n = 549, 42.20%), with the distal phalanx of the third finger being the most common site (n = 73, 15.57%). The number of fractures in adolescents was the lowest (n = 158, 12.14%), and the most common fracture site was the proximal phalanx of the fifth finger (n = 45, 29.61%). Of the 1561 fractures, 1143 occurred in the hands and 418 in the feet. The most and least common first-level fracture sites among hand fractures were the fifth (n = 300, 26.25%) and first (n = 138, 12.07%) fingers, respectively. The most and least common first-level foot fracture locations were the first (n = 83, 19.86%) and fourth (n = 26, 6.22%) toes, respectively. The most common first-level and second level etiologies were life related injuries (n = 1128, 86.70%) and clipping injuries (n = 428, 32.90%), respectively. The incidence of sports injuries gradually increased with age, accounting for the highest proportion in adolescents (26.58%). Hand and foot fractures had many accompanying injuries, with the top three being nail bed injuries (570 cases, 36.52%), growth plate injuries (296 cases, 18.96%), and distal severed fracture (167 cases, 10.70%). Among the 296 growth plate injuries, 246 occurred on the hands and 50 on the feet. CONCLUSIONS: In contrast to previous epidemiological studies on pediatric hand and foot fractures, we mapped the locations of these fractures, including proximal, shaft, distal, and epiphyseal plate injuries. We analyzed the changing trends in fracture sites and injury etiologies with age. Hand and foot fractures have many accompanying injuries that require attention during diagnosis and treatment. Doctors should formulate accident protection measures for children of different ages, strengthen safety education, and reduce the occurrence of accidental injuries.


Assuntos
Traumatismos do Pé , Fraturas Ósseas , Traumatismos da Mão , Ossos Metacarpais , Fraturas Salter-Harris , Masculino , Pré-Escolar , Lactente , Feminino , Adolescente , Criança , Humanos , Estudos Retrospectivos , Fraturas Salter-Harris/complicações , Fraturas Ósseas/epidemiologia , Fraturas Ósseas/etiologia , Fraturas Ósseas/diagnóstico , Traumatismos da Mão/epidemiologia , Traumatismos da Mão/etiologia , Traumatismos da Mão/terapia , Ossos Metacarpais/lesões , Traumatismos do Pé/epidemiologia , Traumatismos do Pé/etiologia , Traumatismos do Pé/terapia
5.
Ann Clin Microbiol Antimicrob ; 22(1): 96, 2023 Nov 07.
Artigo em Inglês | MEDLINE | ID: mdl-37936207

RESUMO

BACKGROUND: Globally, surgical site infections (SSI) are the most commonly reported healthcare-associated infections. METHODS: A multicentre study was conducted among patients who underwent surgical procedures at four hospitals located in Northern (Debre Tabor), Southern (Hawassa), Southwest (Jimma), and Central (Tikur Anbessa) parts of Ethiopia. A total of 752 patients clinically studied for surgical site infection were enrolled. The number of patients from Debre Tabor, Hawassa, Jimma, and Tikur Anbessa, hospitals was 172, 184, 193, and 203, respectively. At each study site, SSI discharge culture was performed from all patients, and positive cultures were characterized by colony characteristics, Gram stain, and conventional biochemical tests. Each bacterial species was confirmed using Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry (MALDI TOF). An antimicrobial susceptibility test (AST) was done on Mueller-Hinton agar using the disk diffusion method. Logistic regression analysis was used to assess associations of dependent and independent variables. A p-value < 0.05 was considered statistically significant. Data were analysed using STATA 16 software. RESULTS: Among 752 wound discharge cultures performed, 65.5% yielded growth. Among these, 57.9% and 42.1% were Gram-negative and Gram-positive isolates, respectively. In this study, a total of 494 bacteria were isolated; Staphylococcus aureus (31%), Escherichia coli (20.7%), and Klebsiella pneumoniae (9.8%) were the most common. Rare isolates (0.8% each) included Raoultella ornithinolytica, Stenotrophomonas maltophilia, Alcalignes faecalis, Pantoea ecurina, Bacillus flexus, and Paenibacillus tylopili. Enterobacteriaceae showed high levels of resistance to most of the tested antibiotics but lower levels of ertapenem (32.9%), amikacin (24.3%), imipenem (20.3%), and meropenem (17.6%) resistance. Multidrug-resistant (MDR) frequency of Enterobacteriaceae at Debre Tabor, Hawassa, Jimma, and Tikur Anbessa hospitals was 84.5%, 96.5%, 97.3%, and 94%, respectively. Ages ≥ 61 years (AOR = 2.83, 95% CI: 1.02-7.99; P 0.046), prolonged duration of hospital stay (AOR = 4.15, 95% CI: 2.87-6.01; P 0.000), history of previous antibiotics use (AOR = 2.83, 95% CI: 1.06-2.80; P 0.028), history of smoking (AOR = 2.35, 95% CI: 1.44-3.83; P 0.001), emergency surgery (AOR = 2.65, 95% CI: 1.92-3.66; P 0.000), and duration of operation (AOR = 0.27, 95% CI: 0.181-0.392; P 0.000) were significant risk factors. CONCLUSION: The most prevalent isolates from Gram-positive and Gram-negative bacteria across all hospitals were S. aureus and E. coli, respectively. Many newly emerging Gram-negative and Gram-positive bacteria were identified. Variation between hospitals was found for both SSI etiology type and MDR frequencies. Hence, to prevent the emergence and spread of MDR bacteria, standard bacteriological tests and their AST are indispensable for effective antimicrobial stewardship.


Assuntos
Antibacterianos , Infecção da Ferida Cirúrgica , Humanos , Antibacterianos/farmacologia , Antibacterianos/uso terapêutico , Infecção da Ferida Cirúrgica/epidemiologia , Infecção da Ferida Cirúrgica/tratamento farmacológico , Estudos Transversais , Staphylococcus aureus , Escherichia coli , Etiópia/epidemiologia , Estudos Prospectivos , Bactérias Gram-Negativas , Bactérias Gram-Positivas , Farmacorresistência Bacteriana , Testes de Sensibilidade Microbiana , Bactérias , Farmacorresistência Bacteriana Múltipla
6.
BMC Psychiatry ; 23(1): 733, 2023 10 10.
Artigo em Inglês | MEDLINE | ID: mdl-37817099

RESUMO

BACKGROUND: Depression with diverse etiologies is exacerbated by chronic diseases, such as chronic kidney disease (CKD), coronary artery disease (CAD), cancer, diabetes mellitus, and hypertension. This study aimed to analyse depression, its associations, and predictors among patients attending the kidney clinic of a teaching hospital. METHODS: Data were collected from 01 August 2017 to 30 September 2017 via face-to-face interviews and examination of the medical records of a convenience sample of 314 patients. The patients were categorised broadly as stages I and II with an estimated glomerular filtration rate (eGFR) > 60 mls/min/1.73 m2, and with stages III, IV, and V or GFR ≤ 60 mls/ min/1.73 m2 (or CKD). The Patient Health Questionnaire (PHQ)-9 was the data collection instrument for depression-related data. RESULTS: Participants were predominantly male (n = 179; 57.0%), aged over 60 years (n = 211; 67.2%), Indo-Trinbagonian (n = 237; 75.5%), and with stages III, IV, and V CKD. The two leading comorbid conditions were hypertension (83.4%) and diabetes mellitus (56.1%). Of the 261 (83.1%) patients with recorded eGFR, 113 (43.3%) had Stage III CKD. The mean depression (PHQ-9) score was 13.0/27 (±9.15), with 306 (97.5%) patients diagnosed as having depression with the following severities: mild (n = 116; 37.9%), moderate (n = 138, 45.1%), moderately severe (n = 38; 12.4%), and severe (n = 14; 4.6%). Depression was independent of sex. Nine sociodemographic variables were associated with depression; however, 'level of education', was the only predictor of depression with greater severity associated with lower levels of education. eGFR was negatively correlated with the PHQ-9 scores (Pearson's correlation, r = -0.144, p = 0.022). At least 78.3% of the patients who self-reported no depression had clinical depression (moderate, moderately severe, or severe) PHQ-9 scores ≥ 10. CONCLUSION: Depression was a significant comorbidity among patients with CKD, with the majority displaying clinical depression. "Level of education" was the only predictor of depression. Self-reported depression is an unreliable method for evaluating clinical depression.


Assuntos
Diabetes Mellitus , Hipertensão , Insuficiência Renal Crônica , Humanos , Masculino , Pessoa de Meia-Idade , Idoso , Feminino , Estudos Transversais , Depressão/complicações , Diabetes Mellitus/epidemiologia , Insuficiência Renal Crônica/complicações , Insuficiência Renal Crônica/diagnóstico , Taxa de Filtração Glomerular , Hipertensão/complicações , Hipertensão/epidemiologia , Fatores de Risco
7.
Rev Cardiovasc Med ; 23(11): 379, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-39076176

RESUMO

Background: The term myocardial infarction with non-obstructive coronary arteries (MINOCA), defines a puzzling event occurring in the absence of obstructive coronary artery disease on coronary angiography and without an overt potential cause. However, a practical diagnostic work-up is often difficult, due to the heterogeneous etiologies and pathophysiology of MINOCA. This review aims to provide a comprehensive overview focusing on epidemiology, etiopathogenesis, diagnostic tools and therapeutic strategies for subjects with MINOCA, in order to provide a prompt and accurate diagnostic work-up and an adequate therapeutic approach in this subset population. Methods: This educational review was carried out by following the standard methods of the Cochrane Collaboration and the PRISMA statement. The terms "MINOCA" OR ("myocardial infarction" AND ("non-obstructive" OR "non-obstructive")) were searched in PubMed and Embase databases (in Title and/or Abstract) from 1st January 2003 until 31st May 2022. Results: Etiologic findings, clinical presentation and the degree of hemodynamic impairment play a pivotal role in defining the patient's natural history and prognostic outcome, and may significantly impact on the decision-making strategies and therapeutic approaches. Conclusions: Despite further advances in diagnostic and therapeutic strategies, MINOCA remains a challenging conundrum in clinical practice. Clinicians should be aware of the different potential etiologies and pathogenic mechanisms of MINOCA, in order to carry out a comprehensive diagnostic work-up and implement a tailored therapeutic approach.

8.
Pancreatology ; 22(7): 917-924, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-35989220

RESUMO

BACKGROUND/OBJECTIVES: Pancreatic intraductal pressure is related to the development of pancreatitis, including post-ERCP (endoscopic retrograde cholangiopancreatography) pancreatitis. In this study, we investigate pancreatic intraductal pressure in various mouse models of acute and chronic pancreatitis. METHODS: Post-ERCP pancreatitis was induced by retrograde infusion of normal saline or radiocontrast at the constant rate of 10 or 20 µL/min. Obstructive pancreatitis was induced by ligation of the pancreatic duct followed by a single injection of caerulein and the changes of intraductal pressure were recorded in day 3 for obstructive acute pancreatitis and day 14 for obstructive chronic pancreatitis. Non-obstructive pancreatitis was induced by repetitive intraperitoneal injections of caerulein. The changes of intraductal pressure were recorded right after the last caerulein injection for non-obstructive acute pancreatitis and after the completion of 4-week caerulein injections for non-obstructive chronic pancreatitis. RESULTS: Elevated pancreatic intraductal pressure was observed in both normal saline and radiocontrast infusion groups and was furtherly indicated that was positively correlated with the viscosity of solution but not genders. In the models of obstructive pancreatitis, a rise in intraductal pressure was observed in both acute and chronic pancreatitis; whereas in the models of non-obstructive pancreatitis, a rise in intraductal pressure was only observed in chronic, but not acute pancreatitis. CONCLUSIONS: During ERCP, the elevations in pancreatic intraductal pressure are induced by increasing rate or viscous solution of infusion. During different forms of experimental acute and chronic pancreatitis, obstructive or non-obstructive etiologies of pancreatitis also induces the elevations in pancreatic intraductal pressure.


Assuntos
Ceruletídeo , Pancreatite Crônica , Animais , Camundongos , Colangiopancreatografia Retrógrada Endoscópica , Modelos Animais de Doenças , Solução Salina
9.
Ann Dermatol Venereol ; 149(4): 228-237, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36229262

RESUMO

BACKGROUND: The objective of this literature review was to list the different etiologies of macroglossia reported in the literature, to identify characteristics that might guide diagnosis, and to create a diagnostic algorithm. METHODS: The bibliographic search was carried out between October 2019 and July 2020 in the PubMed research base using the keywords "macroglossia" (MESH) and/or "tongue enlargement". RESULTS: Of the 1711 references identified, 615 articles were excluded, and 1096 abstracts were reviewed. We classified the different etiologies identified according to their mechanism and whether they were congenital or acquired. The etiologies are divided into the following categories: genetic malformation syndromes, non-syndromic congenital malformations, endocrinopathies, neuromuscular diseases, storage disorders, infectious, inflammatory, traumatic, and iatrogenic diseases. CONCLUSION: Based on this review, we propose a diagnostic algorithm for macroglossia according to the characteristics described. The most common diagnoses among acquired causes were amyloidosis (13.7%), endocrinopathies (8.8%), myopathies (4%) and tongue tumors (6.7%). The most common congenital causes were aneuploidy, lymphatic malformations, and Beckwith-Wiedemann syndrome, which is the main cause of congenital macroglossia, even if it appears isolated.


Assuntos
Macroglossia , Humanos , Algoritmos , Síndrome de Beckwith-Wiedemann/complicações , Macroglossia/diagnóstico
10.
Heart Fail Rev ; 26(4): 829-838, 2021 07.
Artigo em Inglês | MEDLINE | ID: mdl-32002731

RESUMO

The relationship between severity of obesity and outcomes in heart failure (HF) has long been under debate. We studied index HF admissions from the 2013-14 National Readmission Database. Admissions were separated into three weight-based categories: non-obese (Non-Ob), obese (Ob), and morbidly obese (Morbid-Ob) to analyze hospital mortality and readmission at 30 days and 6 months. We investigated etiologies and predictors of 30-day readmission among these weight categories. We studied a total of 578,213 patients of whom 3.0% died during index hospitalization (Non-Ob 3.3% vs. Ob 1.9% vs. Morbid-Ob 1.9%; p < 0.01). Non-Ob comprised 79.5%, Ob 9.9%, and Morbid-Ob 10.6% of patients. Morbid-Ob patients were the youngest among age categories and more likely to be female. In-hospital mortality during readmission at 30 days and 6 months was significantly lower among Morbid-Ob and Ob compared with Non-Ob patients (all p < 0.01). Thirty-day readmission among Morbid-Ob was lower than Non-Ob and higher than Ob patients (19.6% vs. 20.5% vs. 18.6%, respectively; p < 0.01). Morbid-Ob patients were less likely to be readmitted for cardiovascular etiologies compared with both Ob and Non-Ob (45.0% vs. 50.3% vs. 50.6%; p < 0.01). Multivariable regression analysis revealed that Ob (adjusted odds ratio 0.84, 95% confidence intervals 0.82-0.86) and Morbid-Ob (aOR 0.83, 95% CI 0.81-0.85) were independently associated with lower 30-day readmission. Readmission at 6 months was highest among Morbid-Ob followed by Non-Ob and Ob (51.1% vs. 50.2% vs. 49.1%, p < 0.01). Morbid-Ob and Ob patients experience lower in-hospital mortality during index HF admission and during readmission with 30 days or 6 months compared with Non-Ob. Morbid-Ob patients experience greater readmission at 6 months despite the lower rate at 30 days post discharge. Morbid-Ob patients are most likely to be readmitted for non-cardiovascular causes.


Assuntos
Insuficiência Cardíaca , Obesidade Mórbida , Assistência ao Convalescente , Feminino , Insuficiência Cardíaca/epidemiologia , Hospitalização , Humanos , Masculino , Obesidade Mórbida/complicações , Obesidade Mórbida/epidemiologia , Alta do Paciente , Readmissão do Paciente , Estudos Retrospectivos , Fatores de Risco
11.
Annu Rev Clin Psychol ; 17: 339-363, 2021 05 07.
Artigo em Inglês | MEDLINE | ID: mdl-33561363

RESUMO

Developmental approaches provide inclusive, universal, and methodologically rigorous frameworks for studying persons with intellectual disability (ID). This is an exceptionally heterogeneous group with regard to etiology, genotype, and phenotype that simply shares the traditional diagnostic criteria, typically a score of two standard deviations below the population mean of 100 on standardized IQ tests and deficits in adaptive behavior. We trace the foundational, conceptual, and methodological roots of developmental approaches and highlight ways that these and more recent iterations continue to be central to advances in the increasingly nuanced study of persons with ID. This work is premised on the consideration of specific etiological groupings and subgroupings across and between different domains of functioning within the context of familial and complex environments throughout the life span. We highlight the potential contributions of advances in behavioral methodologies, genomics, and neuroscience when considered within universal and hierarchic frameworks based on development.


Assuntos
Deficiência Intelectual , Pessoas com Deficiência Mental , Adaptação Psicológica , Humanos , Deficiência Intelectual/genética
12.
Graefes Arch Clin Exp Ophthalmol ; 259(8): 2379-2387, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-33876278

RESUMO

PURPOSE: To investigate the etiologies and the clinical characteristics of angle-closure glaucoma (ACG) patients younger than 40 years old in Chinese. METHODS: Inpatients with diagnosis of ACG and diagnosed age younger than or equal to 40 years old, who were admitted in Eye, Ear, Nose, and Throat Hospital Fudan University from 2002 to 2017, were included in this retrospective non-comparative case series. The underlying causes and clinical features for all the patients were analyzed by comprehensive review of medical charts. RESULTS: A total of 298 patients (463 eyes) met the criteria, including 153 females (51.3%) and 145 males (48.7%); the mean age was 25.6 ± 13.0 years. Primary angle-closure glaucoma (PACG), uveitis, and anterior segment dysgenesis (ASD) were the top three etiologies in our patients, which accounted for 32.6%, 20.3%, and 15.1% of the total patients respectively. PACG mainly occurs after 30 years of age and ASD is the top reason of ACG in patients younger than 20 years old. Other known etiologies include iridocorneal endothelial syndrome, neovascular glaucoma, nanophthalmos, retinitis pigmentosa, spherophakia, bestrophinopathy, persistent fetal vasculature, iridociliary cysts, congenital retinoschisis, Marfan's syndrome, retinopathy of prematurity, familial exudative vitreoretinopathy, congenital retinal folds, Coat's disease, and neurofibromatosis. CONCLUSIONS: We described the uncommon presentation of ACG in Chinese young patients. Although unusual, most of the etiologies could be identified. Therefore, more careful and comprehensive examinations are needed for early detection and timely treatment for young ACG patients.


Assuntos
Oftalmopatias Hereditárias , Glaucoma de Ângulo Fechado , Doenças Retinianas , Retinose Pigmentar , Adolescente , Adulto , Feminino , Glaucoma de Ângulo Fechado/diagnóstico , Glaucoma de Ângulo Fechado/etiologia , Humanos , Pressão Intraocular , Masculino , Estudos Retrospectivos , Adulto Jovem
13.
Int J Mol Sci ; 22(15)2021 Aug 03.
Artigo em Inglês | MEDLINE | ID: mdl-34361119

RESUMO

Developmental arrest of the preimplantation embryo is a multifactorial condition, characterized by lack of cellular division for at least 24 hours, hindering the in vitro fertilization cycle outcome. This systematic review aims to present the molecular drivers of developmental arrest, focusing on embryonic and parental factors. A systematic search in PubMed/Medline, Embase and Cochrane-Central-Database was performed in January 2021. A total of 76 studies were included. The identified embryonic factors associated with arrest included gene variations, mitochondrial DNA copy number, methylation patterns, chromosomal abnormalities, metabolic profile and morphological features. Parental factors included, gene variation, protein expression levels and infertility etiology. A valuable conclusion emerging through critical analysis indicated that genetic origins of developmental arrest analyzed from the perspective of parental infertility etiology and the embryo itself, share common ground. This is a unique and long-overdue contribution to literature that for the first time presents an all-inclusive methodological report on the molecular drivers leading to preimplantation embryos' arrested development. The variety and heterogeneity of developmental arrest drivers, along with their inevitable intertwining relationships does not allow for prioritization on the factors playing a more definitive role in arrested development. This systematic review provides the basis for further research in the field.


Assuntos
Blastocisto/patologia , Embrião de Mamíferos/patologia , Desenvolvimento Embrionário , Fertilização in vitro , Humanos
14.
Int Ophthalmol ; 41(10): 3437-3442, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-34014458

RESUMO

PURPOSE: To identify the etiologies of isolated fourth cranial nerve palsy in Ramathibodi hospital, Thailand. METHODS: Patients diagnosed with isolated fourth nerve palsy from January 1, 2009, through July 31, 2020 in Ramathibodi Hospital, were included in this retrospective, observational case series. The demographic data of patients, age at presentation, the etiologies of isolated fourth nerve palsy and neuroimaging results (if indicated) were recorded. RESULTS: We identified 154 unilateral and 4 bilateral cases of isolated fourth nerve palsy. Mean age at presentation was 38.89 ± 25.71 years old. Most of the unilateral cases were congenital (57.79%), with microvasculopathy (27.92%), intracranial neoplasm (8.44%) and other etiologies. Trauma with closed head injury was the most common etiology of bilateral cases (75%), followed by ruptured arteriovenous malformation (25%). Twenty-one of the 43 (48.84%) patients with microvasculopathy fourth nerve palsy underwent neuroimaging, with normal findings, and all patients' symptoms resolved within 6 months of symptom onset. CONCLUSIONS: In our series, most of the isolated fourth nerve palsy cases were congenital, followed in frequency by microvasculopathy and intracranial tumor, as in many studies. In cases of microvasculopathy, the clinical signs and symptoms resolved within 6 months in all cases: observation was sufficient, with no necessity for neuroimaging. However, neuroimaging should be considered in cases with atypical presentations, such as headache, periorbital pain, or if there is rapid progression or no recovery.


Assuntos
Doenças do Nervo Troclear , Adolescente , Adulto , Olho , Humanos , Pessoa de Meia-Idade , Neuroimagem , Estudos Retrospectivos , Tailândia/epidemiologia , Doenças do Nervo Troclear/diagnóstico , Doenças do Nervo Troclear/epidemiologia , Doenças do Nervo Troclear/etiologia , Adulto Jovem
15.
BMC Emerg Med ; 20(1): 57, 2020 07 23.
Artigo em Inglês | MEDLINE | ID: mdl-32703150

RESUMO

BACKGROUND: The death of a child at the emergency ward is one of the most difficult problems that the clinicians of these wards have to deal with. In our country the published data concerning the causes and the factors related to pediatric mortality especially in the pediatric emergency wards is very rare. This study aimed to study the epidemiology of the pediatric mortality in the pediatric emergency department (PED), to determine its rate and identify its most frequent causes. METHODS: It is a retrospective and descriptive study, over five years (1st January 2012 and 31st December 2016) including all children aged from 0 to 15 years old who died at the PED in the Mohamed VI Hospital in Marrakech. RESULTS: During the period of the study a total of 172.691 patients presented to the PED, among which 628 died (pediatric mortality rate: 3.63%). The masculine gender was predominant (n = 383) with a gender ratio of 1.59. Two-thirds of the patients died in the first 24 h (n = 421). The median of time from admission to death was around 12 h. Majority of the deceased children (n = 471, 75%) were from a low socioeconomic status. The most frequent cause of admissions for deceased patients in the PED was respiratory distress (n = 296, 47%) followed by neurological disorders (n = 70, 11%). Neonatal mortality (≤ 1 month of age) was predominant (n = 472, 75.1%), followed by postnatal mortality (1 month to 1 year old) (n = 73, 11.6%). The most frequent causes of pediatric mortality, whatever the age range, were dominated by neonatal pathologies (n = 391, 62.3%), followed by infecious causes bronchopulmonary infections included (n = 49, 7.7%), birth deformities (n = 46, 7.3%) while traumas were merely at 0.9% (n = 6). The most frequent causes of neonatal mortality were neonatal infections (n = 152, 32.2%) and prematurity (n = 115, 24.4%). CONCLUSION: Our data once again underline the crucial importance of prevention. This requires correct follow-up of the pregnancies, an adequate assistance of births, and perfecting healthcare provision to newborns in order to attain proper assistance.


Assuntos
Serviço Hospitalar de Emergência , Mortalidade Hospitalar , Adolescente , Criança , Pré-Escolar , Feminino , Hospitais de Ensino , Humanos , Lactente , Recém-Nascido , Masculino , Marrocos/epidemiologia , Estudos Retrospectivos
16.
Prague Med Rep ; 121(1): 25-34, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32191617

RESUMO

Incidence of lower gastrointestinal (GI) bleeding (LGIB) is increasing over time. It can be seen in all age group patients, commonly associated with pre-existing comorbidities and is one of the common indications of colonoscopy. This study was done to identify common causes of LGIB in eastern part of India, because there is no previous study from Eastern India to identify the common causes of lower GI bleeding diagnosed by colonoscopy in different age group patients. Consecutive 64 patients with LGIB were included in this study from June 2018 to March 2019. We divided our study population into three groups, such as group A (20 years to 40 years), group B (41 years to 60 years), and group C (more than 60 years). Data were entered into Excel and then transferred into SPSS version 22 for statistical analysis. Mean age of study population was 49.83 ± 19.06 years. Normal colonoscopic finding was seen in 7 patients (10.9%). Most common colonoscopic findings of our study population were hemorrhoids (n=32; 50%), anal fissure (n=11; 17.2%) and isolated rectal ulcer (n=9; 14.1%). Colorectal growth was seen in 6 patients (9.4%), among them female patients were more commonly affected than male patients. Therefore, most common causes of LGIB in eastern part of India are hemorrhoids, anal fissure and isolated rectal ulcer. Male individuals are more commonly affected by LGIB.


Assuntos
Colonoscopia , Hemorragia Gastrointestinal , Hemorroidas , Adulto , Idoso , Feminino , Hemorragia Gastrointestinal/diagnóstico , Hemorragia Gastrointestinal/etiologia , Hemorroidas/complicações , Hemorroidas/diagnóstico , Humanos , Índia , Masculino , Pessoa de Meia-Idade , Úlcera/diagnóstico
17.
Pak J Med Sci ; 36(6): 1252-1256, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32968389

RESUMO

OBJECTIVES: To determine etiologies, clinical presentations and outcomes of children with fulminant hepatic failure in the first liver transplant center of Pakistan. METHODS: It was a retrospective, observational study, conducted in Paediatric Gastroenterology Department of Shifa International Hospital. Patients between one month to 16 years were included who fulfilled the Pediatric Acute Liver Failure study group (PALFSG) definition of acute liver failure as biochemical evidence of liver injury with no known co-existing chronic liver disease, coagulopathy not corrected by vitamin K, an International Normalized Ratio (INR) greater than 1.5 if the patient has encephalopathy, or greater than 2.0 if the patient does not have encephalopathy. The data collected was recorded on a self-constructed proforma after IRB approval. RESULTS: There were 28 patients in the study which ncluded 17 males and 11 females with a mean age of 72.86±52.50 months. The most common etiologies were Hepatitis A (29%) in isolation or co-infection with Wilson Disease, typhoid fever. It was followed by seronegative hepatitis (29%). Majority (64%) had acute presentation (7 to 28 days), jaundice (82%) being the most common symptom. Severity of encephalopathy was significantly associated with outcome (p=0.02). There were 6 (21%) patients who succumbed to death. CONCLUSIONS: The study highlights infective diseases as the predominant etiology causing fulminant liver failure in children. Our study highlights lower mortality in children.

18.
BMC Infect Dis ; 19(1): 1008, 2019 Nov 28.
Artigo em Inglês | MEDLINE | ID: mdl-31779589

RESUMO

BACKGROUND: Despite substantial global effort and updated clinical management guidelines, diarrhea continues to be among leading worldwide causes of morbidity and mortality in children. Infectious diarrhea, the most common form of diarrhea causes substantial morbidity and mortality among children in developing countries, and the muddled use of antibiotics needs caution due to potential problems of drug-resistance. The aim of this study is to identify etiologies of diarrhea and drug susceptibility patterns of bacterial isolates in under-five children in refugee camps in Gambella Region, Ethiopia. METHODS: An institution- based matched case control study was conducted using a questionnaire-based interview from June to December 2017 in Pugnido and Teirkidi refugee camps. Stool samples were collected and parasites causing diarrhea were identified by wet mount microscopy. Conventional culture supplemented with API 20E identification kit was used to identify Salmonella and Shigella species. Antibiotic susceptibility of bacterial isolates was investigated by using the disk diffusion method. The association between etiologies and diarrhea was analyzed using McNemar test or Fisher exact test with 95% confidence interval at a level of significance of P < 0.05. RESULTS: The overall prevalence of enteric pathogens were 55 (41.0%) in diarrhea cases and 18 (13.4%) in healthy controls. The detected etiologies include Giardia lambia (28), Shigella spp. (16), E. hystolyotica/dispar (13), Ascaris lumbricoides (10), Salmonella spp. (6), Cryptosporidium parvum (6), Hymenolepis nana (4) and Isospora belli (3). All isolates were sensitive to kanamycine and ceftazidime. The high resistance rate was observed against ampicillin (100%), amoxicillin (100%), erythromycin (52%), chloramphenicol (47.5%), tetracycline (40.5%), cotrimoxazole (34.8%) and amoxicillin-clavulanic acid (33%). The majorities of the isolates had a low rate of resistance to ciprofloxacin (8.7%), naldxic acid (8.7%) and amikacin (13%). CONCLUSIONS: Giardia lamblia, E. Hystolytica/dispar, and Shigella spp are the common etiologies of diarrhea in children in the studied refugee camps. The study also showed that significant numbers of bacterial isolates were resistant to the commonly used antimicrobial drugs. Therefore, improving clinical laboratory services and promoting evidence-based drug prescription may reinforce proper use of antibiotics and reduce the emergence of microbial resistance.


Assuntos
Bacteriemia/diagnóstico , Diarreia/diagnóstico , Adolescente , Antibacterianos/farmacologia , Bacteriemia/complicações , Bacteriemia/epidemiologia , Estudos de Casos e Controles , Criança , Pré-Escolar , Diarreia/epidemiologia , Diarreia/etiologia , Farmacorresistência Bacteriana/efeitos dos fármacos , Etiópia/epidemiologia , Fezes/microbiologia , Feminino , Humanos , Lactente , Masculino , Prevalência , Campos de Refugiados , Salmonella/isolamento & purificação , Shigella/isolamento & purificação , Inquéritos e Questionários
19.
BMC Infect Dis ; 19(1): 32, 2019 Jan 08.
Artigo em Inglês | MEDLINE | ID: mdl-30621623

RESUMO

BACKGROUND: Viruses are commonly found in patients with acute respiratory infections (ARIs). However, the viral etiologies and clinical characteristics of outpatients with ARIs are poorly understood in China. Here, we identified the viral etiologies in outpatients with ARIs in Huzhou, China. RESULTS: Our results indicated that of 426 outpatients, 246 were positive for viruses. Of them, 221 were positive for a single virus, including influenza A, which comprised H3N2 (28.5%) and pandemic H1N1 (2009) (19.0%), enterovirus (10.4%), and influenza B (8.6%). Other single viruses were detected at less than 8.0%. Twenty-five patients were positively coinfected with two viruses. The prevalent viruses in coinfections were rhinovirus and H3N2 virus (28.0%). Viruses were major pathogens in young children (< 5 years) (75.0%). Coinfections were prevalent in older adults (11.9%) and young children (9.5%). Virus-positive outpatients presented higher temperatures and more sore throat, fatigue and shortness of breath than virus-negative outpatients. ARIs and most virus detections peaked during the winter, but enteroviruses emerged between April and September. CONCLUSION: Viruses are major agents of ARIs among outpatients in Huzhou, China. There was a variation in the distribution of viruses across different age groups and seasons. These findings are beneficial for planning prevention and treatment services for outpatients with ARIs.


Assuntos
Infecções Respiratórias/epidemiologia , Infecções Respiratórias/virologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , China/epidemiologia , Coinfecção/epidemiologia , Coinfecção/virologia , Enterovirus/isolamento & purificação , Infecções por Enterovirus/complicações , Infecções por Enterovirus/epidemiologia , Infecções por Enterovirus/virologia , Feminino , Humanos , Lactente , Vírus da Influenza A Subtipo H1N1/isolamento & purificação , Vírus da Influenza A Subtipo H3N2/isolamento & purificação , Influenza Humana/epidemiologia , Influenza Humana/virologia , Masculino , Pessoa de Meia-Idade , Pacientes Ambulatoriais/estatística & dados numéricos , Prevalência , Estudos Retrospectivos , Rhinovirus/isolamento & purificação , Estações do Ano , Adulto Jovem
20.
Curr Allergy Asthma Rep ; 18(10): 51, 2018 08 15.
Artigo em Inglês | MEDLINE | ID: mdl-30112673

RESUMO

PURPOSE OF REVIEW: The hyper IgE syndromes (HIES) comprise a group of rare primary immunodeficiency disorders (PIDDs), which are characterized by extremely high serum IgE levels, eczema, recurrent skin and pulmonary infections. Both autosomal dominant (AD) HIES due to STAT3 mutations and autosomal recessive (AR) HIES due to PGM3, SPINK5, DOCK8 and TKY2 mutations have been reported. Here, we aim to summarize and compare the major clinical manifestations of different subtypes of HIES. We will also discuss otitis media, which usually do not get enough attention in HIES. Update and familiarity with these clinical features will help to make a better diagnose, assessment and treatment of HIES. RECENT FINDINGS: Although hyper serum IgE levels have been identified in PGM3 deficiency and Comel-Netherton syndrome, PGM3 and SPINK5 genes were not included in the list of genetic etiologies of AR-HIES by the Expert Committee of the International Union of Immunological Societies until 2015. The identification of these HIES-causing genes greatly promoted the pathogenic mechanism studies of HIES. Also, in recent years, more clinical manifestations, which were often not of concern in HIES patients, have been shown to be highly related to HIES. For example, a significantly high frequency of vascular and gastrointestinal abnormities has been reported in STAT3-deficient AD-HIES patients. These new findings might help to provide new clues to the functional study of these HIES-related genes. This review summarizes and compares the major clinical manifestations of different subtypes of HIES, and we suggest that the incidence and severity of otitis media should not be underestimated in HIES patients.


Assuntos
Síndrome de Job , Gastroenteropatias/complicações , Gastroenteropatias/etiologia , Humanos , Síndrome de Job/complicações , Síndrome de Job/diagnóstico , Síndrome de Job/genética , Mutação , Otite Média/complicações , Infecções Respiratórias/complicações , Dermatopatias/complicações
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