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1.
Medicine (Baltimore) ; 98(50): e18302, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31852110

RESUMO

RATIONALE: The significant ultrasonic characteristics of amniotic band syndrome (ABS) are the malformations of fetal affected parts and the band-like echoes in amniotic cavity. This article first suggests that the fetal hand adhered to umbilical cord with restricted movement provides some values in the diagnosis of ABS in early gestational weeks especially when the fetal malformation is not obvious and amniotic band is thin and fine. PATIENT CONCERNS: Two pregnant women had no discomfort and underwent routine ultrasound examination at 11 to 14 gestational weeks. DIAGNOSIS: Only the fetal hand adhered to umbilical cord with restricted movement was detected during the first ultrasound examination at 11∼14 gestational weeks, and the floating band-like echos were detected in the amniotic cavity with follow-up examinations 2 to 3 weeks later. Both of the 2 fetus were diagnosed as ABS by ultrasound INTERVENTIONS:: The two pregnant women underwent the prenatal counseling and were recommended closely follow-up and further examination. OUTCOMES: Two fetuses died in utero between 17 and 19 weeks. After induction of labor, it was found that the hands and umbilical cord of the fetuses were wrapped by amniotic bands, which was proved pathologically as ABS. LESSONS: The adhesion of the fetal hand and umbilical cord is an important ultrasonic sign suggesting ABS with poor prognosis in early pregnancy. We hope that this study can provide some guidance for the early diagnosis of ABS during 11 to 14 week's ultrasound examination.


Assuntos
Síndrome de Bandas Amnióticas/diagnóstico , Diagnóstico Precoce , Feto/diagnóstico por imagem , Aderências Teciduais/diagnóstico por imagem , Cordão Umbilical/anormalidades , Adulto , Síndrome de Bandas Amnióticas/embriologia , Evolução Fatal , Feminino , Idade Gestacional , Humanos , Gravidez , Aderências Teciduais/embriologia , Ultrassonografia Pré-Natal , Cordão Umbilical/diagnóstico por imagem , Cordão Umbilical/embriologia
2.
Medicine (Baltimore) ; 98(51): e18365, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31860996

RESUMO

INTRODUCTION: Cyclic vomiting syndrome (CVS) is a potentially exhausting disorder and has an adverse impact on quality of life, but it is poorly recognized and is always misdiagnosed leading to a diagnostic delay of several years, especially in adults. PATIENT CONCERNS: We report a case of a 32-year-old woman with recurrent severe nausea, vomiting, and abdominal pain, and repeated visits to the emergency department or the outpatient department for 4 years. Each time she was diagnosed with gastroenteritis or gastritis, and recovered after supportive treatment including antiemetics, maintenance of water and electrolyte balance, and a proton pump inhibitor. DIAGNOSIS: Laboratory examinations, gastroenteroscopy, chest and abdominal computed tomography, and brain magnetic resonance imaging all failed to reveal abnormalities that would explain her symptoms. Based on typical symptoms and the exclusion of other diseases associated with repeated vomiting, the diagnosis was made as CVS. INTERVENTIONS: She was given orally amitriptyline, 50 mg per night, and olanzapine, 1.25 mg per night. OUTCOMES: The treatment was effective in inducing remission, and symptoms did not recur after treatment. The treatment lasted for 2 months and stopped. Her symptoms did not recur over the 10-month follow up. CONCLUSION: CVS is not rare in adults, but its diagnosis is usually delayed due to poor recognition of the condition. Clinician awareness of CVS should be enhanced to improve early diagnosis.Core tip: Cyclic vomiting syndrome has a tremendous impact on the quality of life, but it is poorly recognized and is always misdiagnosed leading to a diagnostic delay of several years, especially in adults. The article presented a case report of cyclic vomiting syndrome of adult; we hope the article will attribute to increased awareness of physician and reduce delayed diagnosis.


Assuntos
Gastrite/diagnóstico , Gastrite/terapia , Vômito/diagnóstico , Vômito/terapia , Dor Abdominal/etiologia , Adulto , Antieméticos/uso terapêutico , Doença Crônica , Diagnóstico Precoce , Feminino , Humanos , Náusea/etiologia , Inibidores da Bomba de Prótons/uso terapêutico , Recidiva , Síndrome , Equilíbrio Hidroeletrolítico
4.
Fortschr Neurol Psychiatr ; 87(11): 629-633, 2019 Nov.
Artigo em Alemão | MEDLINE | ID: mdl-31756745

RESUMO

Adolescence is a particularly vulnerable age for the first manifestation of psychoses due to the brain maturation process and especially with additional stress factors and these have negative psychosocial consequences for the affected persons and their relatives. The disadvantages of an early onset of the disease can be partially compensated for by high-quality early diagnosis and early treatment, taking into account transitional medical approaches. In order to promote a successful transition of adolescent patients with psychoses, there are practical recommendations for the establishment of community-based, flexible and follow-up early diagnosis and treatment networks in which employees work together across diagnosis, age, discipline, and setting, enabling a structured, comprehensive, patient-oriented and flexible successful transition.


Assuntos
Diagnóstico Precoce , Transferência de Pacientes , Transtornos Psicóticos/diagnóstico , Transtornos Psicóticos/terapia , Adolescente , Adulto , Criança , Humanos
5.
Zhonghua Nei Ke Za Zhi ; 58(11): 814-818, 2019 Nov 01.
Artigo em Chinês | MEDLINE | ID: mdl-31665856

RESUMO

Objective: To investigate the clinical significance of transcranial Doppler (TCD) in early diagnosis of sepsis-associated encephalopathy(SAE). Methods: Septic patients admitted to the intensive care unit(ICU) were recruited at Xiangya Hospital, Central South University from July 2015 to March 2016. Clinical data and TCD parameters during 24 hours after admission were collected. All patients were screened for delirium using the confusion assessment method for the intensive care unit (CAM-ICU) twice a day. The gold standard of the diagnosis of SAE was positive CAM-ICU evaluation. Patients were divided into SAE group and the non-SAE group. TCD data including systolic velocity (Vs), diastolic velocity (Vd), mean velocity (Vm), pulsatility index (PI) and resistant index (RI) were analyzed to determine the optimal diagnostic cut-off value. Results: A total of 43 patients were enrolled including 12 in SAE group and 31 in non-SAE group. Vm and Vd were lower in SAE group [Vm: (53.50±12.22) cm/s vs. (61.68±9.63) cm/s, P<0.05; Vd: (33.42±10.87) cm/s vs. (43.16±7.84) cm/s, P<0.01] but PI and RI were significant higher in SAE group[PI:(1.16±0.2) vs. (0.90±0.15), P<0.01;RI:(0.65±0.08) vs. (0.56±0.06), P<0.01] than in non-SAE group. The cut-off values of Vs, Vm, Vd, PI and RI for the diagnosis of SAE were 112cm/s, 55.50cm/s, 34.50cm/s, 1.16, 0.65, respectively, with the relevant sensitivities of 19.4%, 83.9%, 93.5%, 58.3%, 58.3% and the specificities of 100.0%, 50.0%, 58.3%, 96.8%, 96.8%, respectively. The diagnostic AUC of Vd, PI and RI were 0.741, 0.808 and 0.808 respectively. Conclusions: The parameter changes of TCD suggest that the pathogenesis of SAE is related to cerebral hypoperfusion, TCD is a helpful method for the early diagnosis of SAE.


Assuntos
Circulação Cerebrovascular , Artéria Cerebral Média/diagnóstico por imagem , Encefalopatia Associada a Sepse/diagnóstico por imagem , Ultrassonografia Doppler Transcraniana/métodos , Velocidade do Fluxo Sanguíneo , Estudos de Casos e Controles , Diagnóstico Precoce , Humanos , Unidades de Terapia Intensiva
6.
Medicine (Baltimore) ; 98(45): e17824, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31702636

RESUMO

The hippocampus is one of the earliest sites involved in the pathology of Alzheimer's disease (AD). Therefore, we specifically investigated the sensitivity and specificity of hippocampal volume and glucose metabolism in patients being evaluated for AD, using automated quantitative tools (NeuroQuant - magnetic resonance imaging [MRI] and Scenium - positron emission tomography [PET]) and clinical evaluation.This retrospective study included adult patients over the age of 45 years with suspected AD, who had undergone fluorodeoxyglucose positron emission tomography-computed tomography (FDG-PET-CT) and MRI. FDG-PET-CT images were analyzed both qualitatively and quantitatively. In quantitative volumetric MRI analysis, the percentage of the total intracranial volume of each brain region, as well as the total hippocampal volume, were considered in comparison to an age-adjusted percentile. The remaining brain regions were compared between groups according to the final diagnosis.Thirty-eight patients were included in this study. After a mean follow-up period of 23 ±â€Š11 months, the final diagnosis for 16 patients was AD or high-risk mild cognitive impairment (MCI). Out of the 16 patients, 8 patients were women, and the average age of all patients was 69.38 ±â€Š10.98 years. Among the remaining 22 patients enrolled in the study, 14 were women, and the average age was 67.50 ±â€Š11.60 years; a diagnosis of AD was initially excluded, but the patients may have low-risk MCI. Qualitative FDG-PET-CT analysis showed greater accuracy (0.87), sensitivity (0.76), and negative predictive value (0.77), when compared to quantitative PET analysis, hippocampal MRI volumetry, and specificity. The positive predictive value of FDG-PET-CT was similar to the MRI value.The performance of FDG-PET-CT qualitative analysis was significantly more effective compared to MRI volumetry. At least in part, this observation could corroborate the sequential hypothesis of AD pathophysiology, which posits that functional changes (synaptic dysfunction) precede structural changes (atrophy).


Assuntos
Doença de Alzheimer/diagnóstico por imagem , Disfunção Cognitiva/diagnóstico por imagem , Fluordesoxiglucose F18/metabolismo , Hipocampo/diagnóstico por imagem , Interpretação de Imagem Radiográfica Assistida por Computador/métodos , Idoso , Idoso de 80 Anos ou mais , Doença de Alzheimer/metabolismo , Disfunção Cognitiva/metabolismo , Diagnóstico Precoce , Feminino , Glucose/metabolismo , Hipocampo/metabolismo , Humanos , Imagem por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Tomografia Computadorizada com Tomografia por Emissão de Pósitrons , Estudos Retrospectivos , Sensibilidade e Especificidade
7.
Medicine (Baltimore) ; 98(45): e17858, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31702648

RESUMO

Reliable molecular signatures are needed to improve the early and accurate diagnosis of autism spectrum disorder (ASD), and indicate physicians to provide timely intervention. This study aimed to identify a robust blood small nuclear RNA (snRNA) signature in diagnosing ASD. 186 blood samples in the microarray dataset were randomly divided into the training set (n = 112) and validation set (n = 72). Then, the microarray probe expression profiles were re-annotated into the expression profiles of 1253 snRNAs though probe sequence mapping. In the training set, least absolute shrinkage and selection operator (LASSO) penalized generalized linear model was adopted to identify the 9-snRNA signature (RNU1-16P, RNU6-1031P, RNU6-258P, RNU6-335P, RNU6-485P, RNU6-549P, RNU6-98P, RNU6ATAC26P, and RNVU1-15), and a diagnostic score was calculated for each sample according to the snRNA expression levels and the model coefficients. The score demonstrated a good diagnostic ability for ASD in the training set (area under receiver operating characteristic curve (AUC) = 0.90), validation set (AUC = 0.87), and the overall (AUC = 0.88). Moreover, the blood samples of 23 ASD patients and 23 age- and gender-matched controls were collected as the external validation set, in which the signature also showed a good diagnostic ability for ASD (AUC = 0.88). In subgroup analysis, the signature was robust when considering the confounders of gender, age, and disease subtypes, and displayed a significantly better performance among the female and younger cases (P = .039; P = .002). In comparison with a 55-gene signature deriving from the same dataset, the snRNA signature showed a better diagnostic ability (AUC: 0.88 vs 0.80, P = .049). In conclusion, this study identified a novel and robust blood snRNA signature in diagnosing ASD, which might help improve the diagnostic accuracy for ASD in clinical practice. Nevertheless, a large-scale prospective study was needed to validate our results.


Assuntos
Transtorno do Espectro Autista/diagnóstico , RNA Nuclear Pequeno/sangue , Adolescente , Estudos de Casos e Controles , Criança , Pré-Escolar , Diagnóstico Precoce , Feminino , Perfilação da Expressão Gênica/métodos , Humanos , Masculino , Curva ROC , Reprodutibilidade dos Testes
8.
Adv Exp Med Biol ; 1192: 341-352, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31705504

RESUMO

Early detection and early intervention approach targets people at-risk stages who are very close to conversion to illness, or patients who have just transited the illness stage and have not, yet, become chronic. Rigorous efforts have been put in for early detection and early intervention in psychiatry. A high-risk population is identified by clinical manifestations that, as per their severity and suffering, do not yet meet the diagnostic criteria of psychiatric disorders. There have been attempts to break through the existing phenotype-based diagnostic system using biomarkers, but researchers have yet to overcome the heterogeneity of the disease. Nowadays, the clinical staging models in psychosis, bipolar, and depressive disorders have been proposed as a heuristic and a practical alternative to this. This model is evolving to integrate various demographic factors, clinical symptoms, cognitive functions, and biomarkers.


Assuntos
Transtornos Mentais/diagnóstico , Diagnóstico Precoce , Humanos , Fenótipo , Fatores de Risco
9.
Medicine (Baltimore) ; 98(44): e17744, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31689826

RESUMO

Congenital syphilis (CS) can cause serious impact on the fetus. However, congenital syphilis presenting as sepsis is a critical condition but hardly identified by the clinic for the first time. In this study, we aimed to identify the benefit of earlier and accurate diagnosis for the infants who suffer congenital syphilis presenting as sepsis.A retrospective study was performed with patients diagnosed of congenital syphilis presenting as sepsis who were the inpatients in the West China Second Hospital between 2011 and 2018. The control group was collected in the neonatal sepsis patients whose blood culture are positive.Fifty-eight patients were included in the study. In the congenital syphilis group, one patient died and 12 (41.3%) patients get worse to MODS (multiple organ dysfunction syndrome). Symptoms, signs, and lab examinations are found to be significantly different (P < .05) between two groups as below, including rash, palmoplantar desquamation, abdominal distension, splenomegaly, hepatomegaly, etc. And, at the aspect of Hb, PLT, WBC, CRP, ALT, AST, these differences occurred in the different groups. It is obvious that the prognosis of children with syphilis is worse. According to a comparison between the different outcomes in the CS, the worse outcome subgroup of patients is significantly younger and have more severely impaired liver function.Because of the high mortality of these infants, pediatricians should improve awareness of CS. Syphilis screening is recommended for pregnant women.


Assuntos
Sepse Neonatal/diagnóstico , Complicações Infecciosas na Gravidez/diagnóstico , Sepse/diagnóstico , Sífilis Congênita/diagnóstico , Sífilis/diagnóstico , Estudos de Casos e Controles , China , Diagnóstico Diferencial , Diagnóstico Precoce , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Insuficiência de Múltiplos Órgãos/diagnóstico , Insuficiência de Múltiplos Órgãos/microbiologia , Insuficiência de Múltiplos Órgãos/mortalidade , Sepse Neonatal/microbiologia , Sepse Neonatal/mortalidade , Gravidez , Complicações Infecciosas na Gravidez/microbiologia , Complicações Infecciosas na Gravidez/mortalidade , Estudos Retrospectivos , Sepse/microbiologia , Sepse/mortalidade , Sífilis/microbiologia , Sífilis/mortalidade , Sorodiagnóstico da Sífilis , Sífilis Congênita/mortalidade
10.
Medicine (Baltimore) ; 98(44): e17749, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31689829

RESUMO

RATIONALE: Early infantile epileptic encephalopathy (EIEE) 65 was recently shown to be caused by the cytoplasmic FMRP interacting protein 2 (CYFIP2) mutation. To date, only 5 cases have been reported in two articles, and all the outcomes in all cases were poor. PATIENT CONCERNS: In this study, we reported an 8-month-old girl with a 1 month-long history of seizures and developmental delay. Over 1 month later, she developed epileptic spasms in clusters with hypsarrhythmia on electroencephalography. DIAGNOSIS: The patient was diagnosed with EIEE 65 and trio-based whole-exome sequencing revealed a causative de novo CYFIP2 mutation c.260G >T (p.Arg87Leu). INTERVENTIONS: The proband was successively treated with multiple antiepileptic drugs, including levetiracetam, phenobarbital, VitB6, topiramate, methylprednisolone, prednisone, valproic acid and vigabatrin. OUTCOMES: After resistance to multiple anti-epileptic drugs over 2 months of treatment, she finally achieved seizure-free several days after vigabatrin administration and her developmental delay steadily improved. LESSONS: OUR: case confirmed that CYFIP2 was the pathogenic gene of EIEE 65. We also first demonstrated vigabatrin might be effective for control of seizures and helpful for the improved outcomes of these patients.


Assuntos
Proteínas Adaptadoras de Transdução de Sinal/genética , Mutação/genética , Espasmos Infantis/genética , Anticonvulsivantes/uso terapêutico , Diagnóstico Precoce , Feminino , Humanos , Lactente , Espasmos Infantis/diagnóstico , Espasmos Infantis/tratamento farmacológico , Resultado do Tratamento
11.
Endocrinol. diabetes nutr. (Ed. impr.) ; 66(9): 555-562, nov. 2019. tab, graf
Artigo em Espanhol | IBECS | ID: ibc-184378

RESUMO

Introducción: La prevalencia de la desnutrición relacionada con la enfermedad en el hospital varía del 20 al 50%. La utilización de herramientas de cribado debe ser el primer paso en la prevención y el tratamiento de los pacientes en riesgo de desnutrición o desnutridos. Objetivos: Implantar un método de cribado nutricional al ingreso en el ámbito de un hospital terciario. Métodos: La Unidad de Nutrición elaboró un protocolo de detección precoz del riesgo nutricional y eligió el NRS 2002 como herramienta de cribado. El protocolo fue aprobado por la Comisión de Protocolos y Procedimientos del hospital y difundido en la intranet. El NRS 2002 se incluyó en el programa de prescripción de dietas para su realización por parte del personal de enfermería de las unidades de hospitalización y como sistema de comunicación directo con la Unidad de Nutrición. Se diseñaron 3 fases para la implantación: fase de pilotaje, fase de implantación y fase de consolidación. Resultados: En la fase de pilotaje se implantó el NRS 2002 en 2 unidades de hospitalización para monitorizar el software. La fase de implantación se realizó en las mismas unidades y se verificaron todos los protocolos de actuación relacionados con el mismo. La fase de consolidación consistió en ir ampliando sucesivamente las unidades de hospitalización con el protocolo implantado. Conclusiones: La implantación de un cribado nutricional al ingreso hospitalario es un proceso largo y complejo, con la implicación de muchos estamentos. El programa informático ha posibilitado que la realización del mismo sea rápido, sencillo y automatizado, y que el resultado del cribado llegue inmediatamente al personal de enfermería de la unidad de Nutrición y se activen los protocolos de actuación de la misma


Introduction: Prevalence of disease-related malnutrition in hospitals ranges from 20%-50%. Use of nutritional screening tools should be the first step in the prevention and treatment of patients at risk of malnutrition and/or undernourished. Aims: To implement a nutritional screening tool at admission to a tertiary hospital. Methods: The nutrition unit prepared a protocol for early detection of nutritional risk and selected the NRS 2002 as screening tool. The protocol was approved by the hospital committee of protocols and procedures and disseminated through the intranet. NRS 2002 was included in the diet prescription software to be implemented by the nursing staff of the hospital wards and as a direct communication system with the nutrition unit. Three phases were designed: pilot phase, implementation phase, and consolidation phase. Results: The pilot phase, NRS 2002 was implemented in 2 hospital units to monitor software. The implementation phase was carried out in the same units, and all action protocols related to it were verified. The consolidation phase consisted of sequential extension of the protocol to the other hospital units. Conclusions: Implementation of nutritional screening at hospital admission is a long and complex process that requires involvement of many stakeholders. Computer software has allowed for a rapid, simple, and automatic process, so that the results of the screening are immediately available to the nursing staff of the nutrition unit and activate the nutritional protocols when required


Assuntos
Humanos , Idoso , Desnutrição/prevenção & controle , Desnutrição/terapia , Diagnóstico Precoce , Hospitais Universitários , Desnutrição/diagnóstico , Programas de Triagem Diagnóstica/normas , Indicadores de Morbimortalidade , Tempo de Internação
12.
Medicina (B Aires) ; 79 Suppl 3: 2-5, 2019.
Artigo em Espanhol | MEDLINE | ID: mdl-31603834

RESUMO

Phenylketonuria, also known as PKU, is the most frequent congenital inborn error of metabolism. The severe form or classic PKU untreated causes intellectual disability, although with the early detection programs in the neonatal period, diagnosis and treatment prevent the appearance of the symptoms. Despite early diagnosis and treatment we have observed some neurotoxicity in treated PKU patients. We analyzed the factors involved apart from the toxicity due to the high cerebral concentrations of phenylalanine (Phe), the defects of synthesis of neurotransmitters, the alteration of cerebral myelination, the effect of the elevation of Phe in the processes of transport and distribution of neutral amino acids with an abnormal synthesis of brain proteins, plasma and cerebral tyrosine deficiency, the neurotoxicity of Phe metabolites, the defect of cholesterol biosynthesis or the increase of oxidative stress. White matter alterations in early treated PKU patients have an important role in neurological manifestations. The treatment of PKU is for life and is based on the reduction of foods containing Phe combined with the administration of a special formula or tetrahydrobiopterin (BH4) treatment. New therapeutic options will be analyzed.


Assuntos
Neurônios/patologia , Fenilalanina/efeitos adversos , Fenilcetonúrias/diagnóstico , Fenilcetonúrias/terapia , Tirosina/metabolismo , Biopterina/análogos & derivados , Dietoterapia , Diagnóstico Precoce , Humanos , Fenilcetonúrias/fisiopatologia
13.
Zhonghua Liu Xing Bing Xue Za Zhi ; 40(9): 1111-1115, 2019 Sep 10.
Artigo em Chinês | MEDLINE | ID: mdl-31594155

RESUMO

Objective: To understand the early infant diagnosis (EID) test rate and associated factors in HIV-exposed children in China during 2015-2017. Methods: The follow-up information cards of 12 096 HIV-exposed children for 18 months after birth during 2015-2017 were collected from the Management Information System of China's Prevention of Mother-to-Child Transmission of HIV for a retrospective analysis. The EID test characteristics of HIV exposed children and associated factors were analyzed. Results: From 2015 to 2017, the EID test rate in HIV exposed children increased from 65.6% to 83.4% in China (trend χ(2) P<0.001). The EID test rate within 8 weeks after birth increased from 61.1% to 76.8% (trend χ(2) P<0.001), but the EID positive rate decreased from 8.7% to 3.4% (trend χ(2) P<0.001). The EID positive rate in fatal HIV-exposed children was 47.7%, 36.9% and 36.3% during 2015-2017, respectively, the differences were not significant. EID test rate was associated with ethnic group, living area, survival status and the year reaching 18-month-old of the children. Conclusions: The performance of EID test has been standardized step by step in China. The positive rate of EID test decreased gradually with year. However, the EID test rates in children who were from minority ethnic groups, lived in areas with lower prevalence of HIV infection and died within 18 months after birth were relatively low.


Assuntos
Infecções por HIV/diagnóstico , Transmissão Vertical de Doença Infecciosa , Criança , China/epidemiologia , Diagnóstico Precoce , Feminino , HIV , Infecções por HIV/epidemiologia , Humanos , Lactente , Estudos Retrospectivos
14.
Pan Afr Med J ; 33: 174, 2019.
Artigo em Francês | MEDLINE | ID: mdl-31565135

RESUMO

The association between deafness and visual disorders is frequent. These disorders range from simple refractive disorder to severe disease that can lead to disability. Hence the interest of early screening. This study aims to highlight the importance of multidisciplinary management and of the need for ophthalmological examination in each deaf child. We conducted a prospective monocentric data collection from medical records of 200 children followed for hypoacousia from January 2014 to January 2015. Each child underwent complete ophthalmological examination, ENT examination and clinical examination. Data from 155 medical records were collected. Ocular involvement was found in 47 patients, reflecting a rate of 30.4%. Bilateral involvement was found in 45 patients. The main syndromic causes were: Usher syndrome (8 casess), Waardenbourg syndrome (5 cases), Alport syndrome (3 cases), Wolfram syndrome (2 cases), Goldenhar syndrome (3 cases), Cogan syndrome (3 cases), Franceschetti-Kleinsyndrome (1 case), Charge syndrome(1 case), otomandibular syndrome (1 case), Stickler syndrome(1 case), Alström syndrome (1 case), Refsum disease (1 case), Susac syndrome (1 case) and KID Syndrome (1 case). Screening for ocular involvement allowed to shorten the average length of cochlear implantation from 9 months to 3 months. There are numerous ocular and auditory involvements because of the embryological and cellular similarities of these two organs, including the retina and the inner ear. The diagnosis of these involvements is facilitated by the presence of facial dysmorphism; on the other hand, diagnosis is difficult when there are visual and auditory sensorineural involvements. Early diagnosis of ocular and auditory involvements allows for best psychomotor development and optimal social inclusion. Therefore multidisciplinary management is necessary to allow for the best psychomotor, orthophonic and visual rehabilitation.


Assuntos
Implante Coclear/estatística & dados numéricos , Surdez/complicações , Programas de Rastreamento/métodos , Transtornos da Visão/epidemiologia , Adolescente , Criança , Pré-Escolar , Surdez/cirurgia , Diagnóstico Precoce , Feminino , Humanos , Lactente , Masculino , Estudos Prospectivos , Síndrome , Fatores de Tempo , Transtornos da Visão/diagnóstico
15.
Medicine (Baltimore) ; 98(39): e17079, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31574807

RESUMO

Advancements in diagnostic modalities have improved the diagnosis of meconium peritonitis (MP) both in utero and ex utero. This study aimed to determine the efficacy of prompt prenatal and postnatal diagnoses of MP on the postnatal outcomes of these patients.We conducted a retrospective chart review of neonates with MP admitted to the Mackay Memorial Hospital Systems from 2005 to 2016. The prenatal diagnoses, postnatal presentations, surgical indications, operative methods, types of MP, operative findings, associated anomalies, morbidities, patient outcomes, and survival rates were analyzed. Morbidities included postoperative adhesion ileus, bacteremia, and short bowel syndrome. We also performed subgroup analyses of the morbidity and survival rates of prenatally versus postnatally diagnosed patients, as well as inborn versus outborn neonates.Thirty-seven neonates with MP were enrolled. Of this number, 24 (64.9%) were diagnosed prenatally. Twenty-two (59.5%) were born preterm. The most common prenatal sonographic findings included fetal ascites followed by dilated bowel loops. Abdominal distention was the most frequent postnatal symptom. Thirty-four (91.9%) neonates underwent surgery, whereas 3 were managed conservatively. Volvulus of the gastrointestinal tract was the most frequent anatomic anomaly. The total morbidity and survival rates were 37.8% and 91.9%, respectively. The morbidity and survival rates did not differ significantly between prenatally and postnatally diagnosed patients (37.5% vs 33.3%, P = 1.00; 91.7% vs 92.3%, P = 1.00, respectively). Inborn and outborn patients did not differ in terms of morbidity and survival rates (27.3% vs 53.3%, P = .17; 100% vs 80.0%, P = .06, respectively).Although not statistically significant, inborn MP neonates had higher survival rates when compared with outborn MP neonates. Prompt postnatal management at tertiary centers seemed crucial.


Assuntos
Mecônio , Peritonite/diagnóstico por imagem , Ultrassonografia Pré-Natal , Ascite/etiologia , Dilatação Patológica/etiologia , Diagnóstico Precoce , Feminino , Humanos , Recém-Nascido , Volvo Intestinal/etiologia , Intestinos/patologia , Avaliação de Resultados da Assistência ao Paciente , Peritonite/complicações , Peritonite/mortalidade , Peritonite/terapia , Gravidez , Estudos Retrospectivos , Taxa de Sobrevida , Tempo para o Tratamento
16.
Rev Med Suisse ; 15(665): 1740-1745, 2019 Oct 02.
Artigo em Francês | MEDLINE | ID: mdl-31580017

RESUMO

The majority of early hearing disorders are of genetic origin. In view of the genetic heterogeneity, high-throughput sequencing analysis of a panel of genes involved in hearing loss is the most effective and economical approach, providing a diagnostic yield of around 40 % today. The determination of a molecular diagnosis makes it possible to: i) adapt the audiological care; ii) to search for possible somatic problems associated with so-called syndromic hearing loss; (iii) to avoid unnecessary additional examinations in isolated hearing loss; (iv) to establish accurate genetic counseling for relatives, or even to provide early diagnosis; and (v) to lay the foundation for potential future molecular hearing loss therapies in selected cases.


Assuntos
Perda Auditiva/genética , Criança , Surdez/diagnóstico , Surdez/genética , Surdez/terapia , Diagnóstico Precoce , Aconselhamento Genético , Perda Auditiva/diagnóstico , Perda Auditiva/terapia , Humanos , Terapia de Alvo Molecular , Síndrome
17.
Am Surg ; 85(10): 1179-1183, 2019 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-31657320

RESUMO

Delayed presentation of acute appendicitis is associated with increased complications. We hypothesized that the outcomes of appendectomy in delayed presentations of acute appendicitis (>72 hours of pain) were dependent on radiologic findings rather than late presentation. We reviewed records from 2009 to 2015 and analyzed delayed presentations of acute appendicitis. We divided patients into three groups based on specific CT findings: uncomplicated appendicitis (UA), phlegmon or abscess (PA), and other perforated appendicitis (PERF, signs of perforation without abscess or phlegmon). One hundred thirty-eight patients were included in this study (58 in the UA, 67 in the PA, and 13 in the PERF groups). Overall, 78 (57%) patients underwent early appendectomy (EA) and 60 (43%) underwent initial conservative management. The incidence of adverse events was lower in EA than that in initial conservative management (17% vs 42%, P = 0.005). EA in the UA group was associated with shorter hospitalization (3.2 vs 5.6 days, P < 0.001) and less adverse events (6% vs 29%, P < 0.05). Severe adverse events (two colectomies and one fecal fistula) were observed in the PA group. In conclusion, in these late presentations of appendicitis, complicated appendicitis was common. EA was safe in selected patients, however, and associated with decreased adverse events.


Assuntos
Apendicectomia , Apendicite/diagnóstico por imagem , Apendicite/cirurgia , Diagnóstico Tardio/efeitos adversos , Perfuração Espontânea/diagnóstico por imagem , Abscesso/diagnóstico por imagem , Abscesso/etiologia , Doença Aguda , Adulto , Apendicectomia/estatística & dados numéricos , Apendicite/complicações , Tratamento Conservador/efeitos adversos , Tratamento Conservador/estatística & dados numéricos , Diagnóstico Tardio/estatística & dados numéricos , Diagnóstico Precoce , Feminino , Humanos , Tempo de Internação , Masculino , Duração da Cirurgia , Complicações Pós-Operatórias/etiologia , Análise de Regressão , Perfuração Espontânea/complicações , Perfuração Espontânea/cirurgia , Tomografia Computadorizada por Raios X , Resultado do Tratamento
18.
Zhonghua Wei Zhong Bing Ji Jiu Yi Xue ; 31(9): 1083-1086, 2019 Sep.
Artigo em Chinês | MEDLINE | ID: mdl-31657329

RESUMO

OBJECTIVE: To discuss the clinical significance of antibacterial peptide LL-37 in the early diagnosis of patients with sepsis in emergency department. METHODS: Forty patients diagnosed with sepsis in the emergency department of the Affiliated Hospital of Zunyi Medical College from December 2017 to March 2018 were enrolled as sepsis group. Twenty healthy volunteers were enrolled contemporaneously in our hospital at medical center as healthy control group. Peripheral blood was collected immediately after diagnosis in sepsis group or during physical examination in healthy control group. The expression of antibacterial peptide LL-37 was determined by enzyme-linked immunosorbent assay (ELISA). Meanwhile, serum procalcitonin (PCT) and C-reactive protein (CRP) levels were determined. The differences in antibacterial peptide LL-37, PCT and CRP levels between the two groups were compared. Pearson correlation method was used to analyze the correlation between antibacterial peptide LL-37, PCT and CRP. Receiver operating characteristic (ROC) curve was drawn, and the early individually or jointly diagnostic value of each detected index for sepsis was analyzed. RESULTS: The levels of antimicrobial peptide LL-37, PCT and CRP in peripheral blood of sepsis group were significantly higher than those of healthy control group [LL-37 (µg/L): 1.34±0.69 vs. 0.10±0.06, PCT (µg/L): 46.67±39.51 vs. 0.03±0.02, CRP (mg/L): 129.68±49.83 vs. 3.16±2.85], with statistically significant differences (all P < 0.05). Pearson correlation analysis showed that the expression of antimicrobial peptide LL-37 was positively correlated with PCT and CRP levels (r1 = 0.835, r2 = 0.932, both P < 0.01). ROC curve analysis showed that the area under ROC curve (AUC) of LL-37, PCT and CRP for early diagnosis of sepsis was 0.885, 0.963 and 0.983, respectively, and the AUC of combined diagnosis of the three parameters was as high as 0.994, indicating that the value of combined diagnosis of sepsis was greater than that of single diagnosis; when the combined prediction probability of the three parameters was 0.92, the sensitivity was 97.5%, and the specificity was 95.0%. CONCLUSIONS: Antibacterial peptide LL-37 has certain clinical value in early diagnosis of patients with sepsis, which can be used as early routine monitoring indicators for patients with early sepsis when combined with PCT and CRP.


Assuntos
Peptídeos Catiônicos Antimicrobianos/metabolismo , Calcitonina , Sepse/diagnóstico , Proteína C-Reativa , Peptídeo Relacionado com Gene de Calcitonina , Diagnóstico Precoce , Serviço Hospitalar de Emergência , Humanos , Precursores de Proteínas , Curva ROC , Sepse/metabolismo
19.
An Bras Dermatol ; 94(4): 473-475, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31644625

RESUMO

Atrophoderma of Pasini and Pierini is a skin disorder affecting dermal collagen and is clinically characterized by well-defined plaques of depressed skin. Histopathological changes are subtle, and in most cases, the diagnosis requires a comparative study with healthy skin from the same anatomical site. High frequency ultrasound is a useful imaging method for diagnosis of atrophic skin changes. A case is presented in which ultrasound can support the clinical and the histopathological diagnosis of atrophoderma of Pasini and Pierini.


Assuntos
Derme/diagnóstico por imagem , Derme/patologia , Dermatopatias/diagnóstico por imagem , Dermatopatias/patologia , Ultrassonografia Doppler em Cores/métodos , Adulto , Atrofia/diagnóstico por imagem , Atrofia/patologia , Biópsia , Diagnóstico Precoce , Feminino , Humanos
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