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1.
BioDrugs ; 38(2): 275-285, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38402495

RESUMO

INTRODUCTION: Anti-calcitonin gene-related peptide monoclonal antibodies (anti-CGRP-mAbs) have recently been approved for the prevention of migraine, and their safety profile is not fully characterized. OBJECTIVE: The aim of this study was to evaluate the adverse drug reactions (ADRs) of anti-CGRP-mAbs through the analysis of individual case safety reports (ICSRs) collected in the EudraVigilance (EV) database, with a specific focus on cardiovascular (CV) ADRs. METHODS: Data on ICSRs recorded between July 2018 and December 2022 in the EV database, involving one of the anti-CGRP-mAbs for migraine prevention-erenumab (ERE), galcanezumab (GMB), fremanezumab (FMB), and eptinezumab (EPT)-were included in the analysis. All ICSRs reporting at least one CV ADR, as identified within the MedDRA® System Organ Classes (SOCs) "cardiac disorders" or "vascular disorders," were selected for the analysis. The frequency of disproportionate reporting was expressed as the reporting odds ratio (ROR) with its 95% confidence interval (CI), to evaluate the frequency of reporting of CV ADRs for each anti-CGRP-mAb compared with all other monoclonal antibodies (mAbs). A case-by-case analysis was conducted paying particular attention to serious CV ADR reports, focusing on the type of seriousness, age group, sex, and concomitant drugs. RESULTS: A total of 9441 ICSRs were recorded in the EV database from 2018 to 2022, of which more than half were related to ERE (58.9%), followed by GMB (21.4%), FMB (19.0%), and EPT (0.7%). CV ICSRs accounted for 1205 cases (12.8%), with a total of 1599 CV ADRs. The CV ICSRs were mainly related to female patients (82.6%) aged 18-64 years (73.4%). Of the reported CV ADRs, 67.5% were considered serious. Among the total number of ICSRs related to each anti-CGRP-mAb, those associated with FMB had a higher percentage of CV ADRs (n = 253; 14.1%), followed by ERE (n = 707; 12.7%), EPT (n = 8; 12.7%), and GMB (n = 237; 11.7%). A higher frequency of reporting hypertension was shown for ERE (ROR = 1.45; 95% CI = 1.14-1.85). Pallor was mainly observed with FMB (5.00; 1.68-14.89), as well as deep vein thrombosis (3.86; 1.57-9.51), hot flush (2.16; 1.43-3.25), and palpitations (1.48; 1.05-2.08). Atrial fibrillation (2.36; 1.02-5.46) and myocardial infarction (2.21; 1.37-3.58) were mostly reported for GMB. CONCLUSION: The analysis of anti-CGRP-related CV ADRs was consistent with the information reported in the literature. However, hypertension with ERE, atrial fibrillation and myocardial infarction with GMB, as well as pallor, deep vein thrombosis, hot flush, and palpitations with FMB were not reported in the Summary of Product Characteristics (SmPCs). Considering this, more post-marketing analyses are needed to improve knowledge on the CV safety profiles of anti-CGRP-mAbs, especially for the last approved medication, EPT.


Assuntos
Fibrilação Atrial , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos , Hipertensão , Transtornos de Enxaqueca , Infarto do Miocárdio , Trombose Venosa , Humanos , Feminino , Peptídeo Relacionado com Gene de Calcitonina , Fibrilação Atrial/tratamento farmacológico , Palidez , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/epidemiologia , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/prevenção & controle , Anticorpos Monoclonais/uso terapêutico , Transtornos de Enxaqueca/tratamento farmacológico , Trombose Venosa/tratamento farmacológico
3.
Vet Pathol ; 61(2): 288-297, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37842940

RESUMO

Pedigree analysis, clinical, gross, microscopic, ultrastructural, and lipidomic findings in 4 female superb bird-of-paradise (SBOP, Lophorina superba) siblings led to the diagnosis of a primary inherited glycerolipid storage disease. These birds were the offspring of a related breeding pair (inbreeding coefficient = 0.1797) and are the only known SBOPs to display this constellation of lesions. The birds ranged from 0.75 to 4.3 years of age at the time of death. Two birds were euthanized and 1 died naturally due to the disease, and 1 died of head trauma with no prior clinical signs. Macroscopic findings included hepatomegaly and pallor (4/4), cardiac and renal pallor (2/4), and coelomic effusion (1/4). Microscopic examination found marked tissue distortion due to cytoplasmic lipid vacuoles in hepatocytes (4/4), cardiomyocytes (4/4), renal tubular epithelial cells (4/4), parathyroid gland principal cells (2/2), exocrine pancreatic cells (3/3), and the glandular cells of the ventriculus and proventriculus (3/3). Ultrastructurally, the lipids were deposited in single to coalescing or fused droplets lined by an inconspicuous or discontinuous monolayer membrane. Lipidomic profiling found that the cytoplasmic lipid deposits were primarily composed of triacylglycerols. Future work, including sequencing of the SBOP genome and genotyping, will be required to definitively determine the underlying genetic mechanism of this disease.


Assuntos
Palidez , Irmãos , Animais , Feminino , Humanos , Palidez/patologia , Palidez/veterinária , Estômago , Proventrículo/patologia , Lipídeos
5.
Parasitol Int ; 98: 102824, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37977488

RESUMO

In Brazil, the fatality rate for visceral leishmaniasis is high, and it is important to investigate its associated factors. The aim of this study was to analyze the clinical-epidemiological profile and prognostic factors associated with death from visceral leishmaniasis (VL) in the Central-West region of Brazil, between 2010 and 2019. A study of series of VL cases was carried out using data obtained from the Sistema de Informação de Agravos de Notificação (SINAN). Multivariate logistic regression was performed to identify variables associated with deaths. Male (64.96%); age group ≤5 years (28.51%); mixed race/color (59.20%); and level of education incomplete primary education (45.16%) were the most affected. The most frequent symptoms were fever (87.65%), weakness (77.56%), enlarged spleen (70.22%) and liver (67.33%), weight loss (67.22%) and pallor (63.41%). Co-infection with HIV was observed in 15.84% of patients. The parasitological diagnosis was positive in 74.17% and the Indirect Immunofluorescence (IIF) in 82.80%. The drug most used for treatment was pentavalent antimony (41.96%). Regarding the evolution of VL, cure was recorded for 82.90% of patients and death from VL in 8.30%. Factors associated with death from VL were: age group ≥20 and <60 (OR 2.95; 95% CI 1.98-4.38) and ≥60 (OR 5.84; 95% CI 3.63-9.38), edema (OR 2.27; 95% CI 1.64-3.13), pallor (OR 1.53; 95% CI 1.06-2.20), infectious condition (OR 1.56; 95% CI 1.12-2.15) and hemorrhagic phenomena (OR 2.87; 95% CI 2.02-4.08). New studies are needed in order to better manage VL control, monitoring, prevention and primary care strategies.


Assuntos
Antiprotozoários , Coinfecção , Leishmaniose Visceral , Humanos , Masculino , Pré-Escolar , Leishmaniose Visceral/diagnóstico , Leishmaniose Visceral/epidemiologia , Leishmaniose Visceral/tratamento farmacológico , Prognóstico , Brasil/epidemiologia , Palidez , Antiprotozoários/uso terapêutico , Coinfecção/epidemiologia
6.
Indian J Ophthalmol ; 71(12): 3626-3632, 2023 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-37991294

RESUMO

BACKGROUND: To analyze the clinical profile, presentation, possible pathophysiology, and outcomes of central retinal artery occlusion (CRAO) following blunt trauma in pediatric subjects. METHODOLOGY: The medical charts of subjects aged 18 years or less with a diagnosis of CRAO following blunt ocular trauma were analyzed retrospectively for demography, details of the trauma, ocular findings, additional imaging reports if any, and final outcome. A Medline search was done (key words like central retinal artery occlusion, blunt trauma, children, pediatric subjects, and adolescents) to gather information available in the literature on the subject. RESULTS: A total of 11 patients (11 eyes), mean age of 14.3 ± 3.4 years, and 100% male preponderance, with an average time duration from trauma to presentation to the hospital of 8.1 days were included. Visual acuity ranged from no light perception (four eyes) to finger count at a 1 m distance. Intraocular pressure was raised in three patients, of which two were suffering from sickle cell disease. In two eyes, the CRAO coexisted with optic nerve avulsion and the cilioretinal artery was spared. Disk pallor was seen in six eyes as early as 12 days from the trauma. None of the cases revealed any bony fracture in the CT scan. CONCLUSION: CRAO was observed to be an important primary or contributory cause of visual loss in children following blunt trauma, reflex vasospasm being the most common etiology. Early onset disk pallor could suggest an underlying vascular compromise of both retinal and optic disk circulation in addition to direct disk damage.


Assuntos
Traumatismos Oculares , Disco Óptico , Oclusão da Artéria Retiniana , Ferimentos não Penetrantes , Adolescente , Humanos , Masculino , Criança , Feminino , Estudos Retrospectivos , Palidez/complicações , Oclusão da Artéria Retiniana/diagnóstico , Oclusão da Artéria Retiniana/etiologia , Disco Óptico/irrigação sanguínea , Traumatismos Oculares/complicações , Traumatismos Oculares/diagnóstico , Ferimentos não Penetrantes/complicações , Ferimentos não Penetrantes/diagnóstico
7.
Med Eng Phys ; 120: 104038, 2023 10.
Artigo em Inglês | MEDLINE | ID: mdl-37838394

RESUMO

Hemoglobin, a crucial protein found in erythrocytes, transports oxygen throughout the body. Deviations from optimal hemoglobin levels in the blood are linked to medical conditions, serving as diagnostic markers for certain diseases. The hemoglobin level is usually measured invasively with different devices using the blood sample. In the physical interpretation, some signs are traditionally used. These signs are the palms, face, nail beds, pallor of the conjunctiva, and palmar wrinkles. Studies have shown that conjunctival pallor can yield more effective results in detecting anemia than the pallor of the palms or nail beds. This study is aimed to predict the hemoglobin level by deep learning method, non-invasive, cheap, fast, high accuracy, and without creating medical waste. In this context, conjunctival images and age, weight, height, gender, and hemoglobin values were collected from 388 people who donated blood to the Turkish Red Crescent. A dataset was generated by augmenting the gathered data with body mass index data. Within the scope of this investigation, the limits of agreement (LoA) value at a 95% confidence interval was computed to be 1.23 g/dL, while the bias was established as 0.26 g/dL. The mean absolute percentage error (MAPE) values were determined to be 3.4%, and the root mean squared error (RMSE) was calculated to be 0.68 g/dL. These findings exhibit a successful outcome compared to similar investigations, signifying that this non-invasive method can be employed for hemoglobin level estimation. Furthermore, the estimated hemoglobin levels could aid in diagnosing several hemoglobin-related ailments.


Assuntos
Aprendizado Profundo , Palidez , Humanos , Palidez/diagnóstico , Sensibilidade e Especificidade , Hemoglobinas/análise , Túnica Conjuntiva/diagnóstico por imagem , Túnica Conjuntiva/química
8.
Dermatologie (Heidelb) ; 74(10): 787-792, 2023 Oct.
Artigo em Alemão | MEDLINE | ID: mdl-37407876

RESUMO

Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare hematological malignancy that derives from precursors of plasmacytoid dendritic cells and is characterized by disseminated, erythematous or bluish-livid plaques or nodi. Because of the disease's rarity the diagnosis and treatment still pose a significant challenge. We present a case of a patient with BPDCN and show clinical and diagnostic characteristics as well as potential treatment regimes.


Assuntos
Neoplasias Hematológicas , Neoplasias Cutâneas , Humanos , Neoplasias Hematológicas/complicações , Neoplasias Cutâneas/diagnóstico , Células Dendríticas/patologia , Doença Aguda , Palidez/complicações
9.
Acta Biomed ; 94(S1): e2023142, 2023 07 24.
Artigo em Inglês | MEDLINE | ID: mdl-37486597

RESUMO

Radial artery cannulation is widely used in intensive care units. However, it is not free from risks. We cannulated the left radial artery in a 75-year-old man and observed this phenomenon but found poor information from literature searches. We propose that the pallor around the insertion site after flushing the line with saline may be due to the cold and high-pressure injection, causing localized superficial vasospasm. Luckily, skin pallor resolved once the arterial lavage was stopped. This phenomenon may be less observed by practitioners leading to underestimating the possibility of related complications.


Assuntos
Cateterismo Periférico , Artéria Radial , Masculino , Humanos , Idoso , Cateterismo Periférico/efeitos adversos , Palidez , Unidades de Terapia Intensiva
11.
J Assoc Physicians India ; 71(3): 11-12, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37354504

RESUMO

AIM: To study the clinico-etiological profile of children with thrombocytopeniaMethods: This prospective hospital-based study included all children (<18 years) with thrombocytopenia at the time of hospitalization and/or thrombocytopenia during the course of their hospital stay. A detailed history was recorded and appropriate laboratory investigations were carried out Results: The study group comprised 246 children (mean age, 9.29 years; median age, 10 years) with male to female ratio of 1.5:1. Nearly 45% of children were above 10 years of age. Trends of admissions showed that the majority of children with thrombocytopenia (n = 115) got hospitalized during the rainy season, followed by summer (n = 84). Fever (72.8%), pallor (52.8%), bleeding manifestations (22%), lymphadenopathy (20.3%), and splenomegaly (20.3%) were common clinical features. Petechiae was the most common bleeding manifestation (63%). Septicemia (24%) was the most common etiology, followed by megaloblastic anemia (14.6%), undiagnosed fever (10.2%), local infection (9.3%), hepatitis (6.5%), and scrub typhus (6.1%). About nine children died. All those who died had septicemia and multi-organ dysfunction (MOD). On logistic regression analysis, age >10 years, presence of bleeding, arthralgia, rash, pallor, gastrointestinal (GI) symptoms, hematological disorders, and malignancy were associated with severe thrombocytopeniaConclusion: Thrombocytopenia is a common hematological observation. This study revealed seasonal variation in the occurrence of thrombocytopenia in children, with the maximum number of cases in the rainy season. Septicemia is the commonest etiology. The majority of children with thrombocytopenia have no bleeding manifestations. Age >10 years, presence of bleeding, arthralgia, rash, pallor, GI symptoms, hematological disorders, and malignancy are associated with severe thrombocytopenia.


Assuntos
Anemia , Exantema , Leucopenia , Tifo por Ácaros , Sepse , Trombocitopenia , Humanos , Masculino , Criança , Feminino , Estudos Prospectivos , Estações do Ano , Palidez/complicações , Trombocitopenia/etiologia , Trombocitopenia/complicações , Anemia/complicações , Tifo por Ácaros/diagnóstico , Sepse/complicações
12.
Indian J Gastroenterol ; 42(2): 279-285, 2023 04.
Artigo em Inglês | MEDLINE | ID: mdl-37162701

RESUMO

Pancytopenia in children with celiac disease (CeD) is postulated to be due to nutritional deficiency such as vitamin B12, folate and copper or an autoimmune process resulting in aplastic anemia with hypoplastic marrow. In the present case series, we report the profile and explore the etiology of pancytopenia among children with CeD. There are only a few case reports of pancytopenia in children with CeD. We enrolled newly diagnosed cases of CeD and pancytopenia presenting in the celiac disease clinic over three years. Detailed evaluation was carried out for the cause of pancytopenia. We followed up on the cases for compliance and response to gluten-free diet at three months, six months and 12 months. Twenty patients were eligible for inclusion. They were divided into two groups: one with aplastic anemia with hypoplastic marrow labeled as Gp CeD-AA and the other with megaloblastic/nutritional anemia labeled as Gp CeD-MA. Patients in Gp CeD-MA presented with classical symptoms of CeD as recurrent diarrhea, abdomen distension, pallor and poor weight gain. They had none or just one transfusion requirement and had an early and complete recovery from pancytopenia. Patients in Gp CeD-AA presented with atypical symptoms such as epistaxis, short stature, fever, pallor and weakness. They had a multiple blood transfusion requirement and had delayed and partial recovery from pancytopenia. Pancytopenia is not a disease in itself but is the presentation of an underlying disease. It can occur due to various coexisting disorders in children with CeD, which can be as simple as nutritional deficiencies to as complex as an autoimmune process or malignancy. CeD should be included in the differential diagnosis of aplastic anemia as CeD and aplastic anemia both have a similar pathological process involving T cell destruction of tissues.


Assuntos
Anemia Aplástica , Anemia Megaloblástica , Doença Celíaca , Pancitopenia , Humanos , Criança , Pancitopenia/etiologia , Pancitopenia/diagnóstico , Pancitopenia/patologia , Anemia Aplástica/complicações , Anemia Aplástica/diagnóstico , Anemia Aplástica/patologia , Doença Celíaca/complicações , Doença Celíaca/diagnóstico , Palidez/complicações , Anemia Megaloblástica/complicações
13.
Dermatologie (Heidelb) ; 74(8): 614-617, 2023 Aug.
Artigo em Alemão | MEDLINE | ID: mdl-37237145

RESUMO

Starting in 2020, the global health system faced unprecedent challenges due to the coronavirus disease 2019 (COVID-19) pandemic and the consequences are still felt. All the more fascinating and of particular importance for health policy was the development of potent vaccines within about one year by several research groups after the first reports of COVID-19 infections. To date, three types of COVID-19 vaccines are available, i.e., messenger RNA-based vaccines, adenoviral vector vaccines, and inactivated whole-virus vaccines. We report a woman who developed reddish, partially urticarial skin lesions on her right arm and flank shortly after the first dose with the corona vaccination from AstraZeneca/Oxford (ChAdOx1). The lesions were transient, however reoccurred in loco and at other locations over several days. The clinical presentation was unusual and was correctly assigned due to the clinical course.


Assuntos
Vacinas contra COVID-19 , COVID-19 , Dermatopatias , Urticária , Feminino , Humanos , COVID-19/prevenção & controle , Vacinas contra COVID-19/efeitos adversos , Emoções , Vacinas de mRNA , Palidez
14.
Ital J Pediatr ; 49(1): 44, 2023 Apr 07.
Artigo em Inglês | MEDLINE | ID: mdl-37024936

RESUMO

BACKGROUND: There is still a lack of effective scoring criteria for assessing the severity of pulmonary infection associated with changes in the endobronchial lining of the bronchus in children. This study aimed to ascertain the timing and value of endoscopic scoring of fibreoptic bronchoscopy (FOB) and bronchoalveolar lavage (BAL) in children with severe pneumonia. METHOD: The clinical data of 229 children with severe pneumonia treated with BAL in the Pediatric Intensive Care Unit of the First Affiliated Hospital of Xinxiang Medical University between November 2018 and December 2021 were collected. According to the severity of the disease, patients were divided into an invasive ventilation group and a non-invasive ventilation group, as well as an early BAL group (receiving BAL within 1 day of admission) and a late BAL group (receiving BAL 2 days after admission). A Student's t-test, Chi-square test, receiver operating characteristic (ROC) curve and survival curve were used to analyse the bronchitis score, aetiology of BAL fluid and survival data. RESULTS: The scores of endoscopic mucosal oedema, erythema and pallor and the total score in the invasive ventilation group were higher than those in the non-invasive ventilation group (P < 0.05), and they were consistent with the Sequential Organ Failure Assessment (SOFA) scores. The secretion colour score was lower in the early BAL group than in the late BAL group (P < 0.05). On the bronchitis scores, which were evaluated using a ROC curve, the difference in the mucosal erythema, pallor, oedema and total score of the invasive and non-invasive groups was statistically significant (P < 0.05), which was consistent with the area under the ROC of the SOFA scores. Acute Physiology and Chronic Health Assessment II and SOFA scores after FOB were lower than those before treatment (P < 0.05). In terms of ICU hospitalisation days and total hospitalisation days, the time of the early FOB patients was shorter than that of the late FOB patients (P < 0.05). A total of 22 patients (9.61%) died. The Kaplan-Meier analysis and log-rank test showed that the survival rate of the non-invasive ventilation group was higher than that of the invasive ventilation group (P < 0.05). CONCLUSION: This study found that FOB combined with BAL is an important method for the diagnosis and treatment of severe pneumonia. Early BAL can reduce hospitalisation and ICU time; however, it cannot improve the survival rate. The endoscopic score has a certain role to play in assessing the severity of pulmonary inflammation, but studies with a large sample are still needed to confirm this.


Assuntos
Bronquite , Pneumonia , Humanos , Criança , Broncoscopia/métodos , Palidez , Pneumonia/diagnóstico , Líquido da Lavagem Broncoalveolar , Curva ROC , Prognóstico , Estudos Retrospectivos
15.
J Glob Health ; 13: 05003, 2023 Feb 24.
Artigo em Inglês | MEDLINE | ID: mdl-36825608

RESUMO

Background: Knowledge of the risk factors for and causes of treatment failure and mortality in childhood pneumonia is important for prevention, diagnosis, and treatment at an individual and population level. This review aimed to identify the most important risk factors for mortality among children aged under ten years with pneumonia. Methods: We systematically searched MEDLINE, EMBASE, and PubMed for observational and interventional studies reporting risk factors for mortality in children (aged two months to nine years) in low- and middle-income countries (LMICs). We screened articles according to specified inclusion and exclusion criteria, assessed risk of bias using the EPHPP framework, and extracted data on demographic, clinical, and laboratory risk factors for death. We synthesized data descriptively and using Forest plots and did not attempt meta-analysis due to the heterogeneity in study design, definitions, and populations. Findings: We included 143 studies in this review. Hypoxaemia (low blood oxygen level), decreased conscious state, severe acute malnutrition, and the presence of an underlying chronic condition were the risk factors most strongly and consistently associated with increased mortality in children with pneumonia. Additional important clinical factors that were associated with mortality in the majority of studies included particular clinical signs (cyanosis, pallor, tachypnoea, chest indrawing, convulsions, diarrhoea), chronic comorbidities (anaemia, HIV infection, congenital heart disease, heart failure), as well as other non-severe forms of malnutrition. Important demographic factors associated with mortality in the majority of studies included age <12 months and inadequate immunisation. Important laboratory and investigation findings associated with mortality in the majority of studies included: confirmed Pneumocystis jirovecii pneumonia (PJP), consolidation on chest x-ray, pleural effusion on chest x-ray, and leukopenia. Several other demographic, clinical and laboratory findings were associated with mortality less consistently or in a small numbers of studies. Conclusions: Risk assessment for children with pneumonia should include routine evaluation for hypoxaemia (pulse oximetry), decreased conscious state (e.g. AVPU), malnutrition (severe, moderate, and stunting), and the presence of an underlying chronic condition as these are strongly and consistently associated with increased mortality. Other potentially useful risk factors include the presence of pallor or anaemia, chest indrawing, young age (<12 months), inadequate immunisation, and leukopenia.


Assuntos
Infecções por HIV , Desnutrição , Pneumonia , Humanos , Criança , Lactente , Países em Desenvolvimento , Palidez/complicações , Pneumonia/terapia , Fatores de Risco , Hipóxia/terapia
17.
Medicine (Baltimore) ; 102(4): e32708, 2023 Jan 27.
Artigo em Inglês | MEDLINE | ID: mdl-36705355

RESUMO

RATIONALE: Hereditary spherocytosis (HS) has a defect in the vertically connected proteins on the cell membrane of red blood cells (RBC). Hereditary elliptocytosis (HE) has a defect in proteins that connect the cell membrane horizontally. We reported two families of RBC membrane disorders in Taiwanese, one was HS and the other was HE. PATIENT CONCERNS: Case 1. A 19-year-old male student with chronic jaundice and splenomegaly. His mother, maternal uncle, grandmother, and many members of older generations also had splenomegaly and underwent splenectomy. Case 2. A 40-year-old man has experienced pallor and jaundice since the age of 20 and was found to have splenomegaly, and gall bladder stones in the older age. His younger sister also had pallor and jaundice for a long time. DIAGNOSES: In case 1, a peripheral blood smear showed 20% spherocytes. Eosin-5-maleimide labeled RBC by flow cytometry showed a result of 30.6 MCF (cutoff value: 45.5 MCF). He was diagnosed with HS. The gene analysis identified a heterozygous mutation with c.166A > G (p.Lys56Glu) in the SLC4A1 gene in this proband, his mother, and maternal uncle. In case 2, more than 40% of ellipsoid RBC present in the peripheral blood smear. He was diagnosed with HE. Genetic analysis of the SPTA1 gene identified a novel heterozygous exon2, c.86A > C, p.Gln29Prol mutation. INTERVENTIONS: The two patients had compensated anemia, clinical follow-up instead of splenectomy was done. OUTCOMES: The two patients had normal daily activities and lives. LESSONS: We reported two Taiwanese families, one was hereditary spherocytosis affected by a heterozygous mutation with c.166A > G (p.Lys56Glu) in SLC4A1, and the other was hereditary elliptocytosis caused by a novel heterozygous SPTA1 gene mutation, c. 86A > C, p.Gln29Prol. These 2 seemingly common hereditary red blood cell membrane protein defects induced by hemolysis are usually underdiagnosed or misdiagnosed.


Assuntos
Eliptocitose Hereditária , Icterícia , Esferocitose Hereditária , Adulto , Feminino , Humanos , Masculino , Adulto Jovem , Proteínas do Citoesqueleto/genética , Eliptocitose Hereditária/diagnóstico , Eliptocitose Hereditária/genética , Mutação , Palidez , Esferocitose Hereditária/genética , Esferocitose Hereditária/diagnóstico , Esplenomegalia/genética , Taiwan
18.
Artif Intell Med ; 136: 102477, 2023 02.
Artigo em Inglês | MEDLINE | ID: mdl-36710064

RESUMO

Anemia is a condition in which the oxygen-carrying capacity of red blood cells is insufficient to meet the body's physiological needs. It affects billions of people worldwide. An early diagnosis of this disease could prevent the advancement of other disorders. Traditional methods used to detect anemia consist of venipuncture, which requires a patient to frequently undergo laboratory tests. Therefore, anemia diagnosis using noninvasive and cost-effective methods is an open challenge. The pallor of the fingertips, palms, nail beds, and eye conjunctiva can be observed to establish whether a patient suffers from anemia. This article addresses the above challenges by presenting a novel intelligent system, based on machine learning, that supports the automated diagnosis of anemia. This system is innovative from different points of view. Specifically, it has been trained on a dataset that contains eye conjunctiva photos of Indian and Italian patients. This dataset, which was created using a very strict experimental set, is now made available to the Scientific Community. Moreover, compared to previous systems in the literature, the proposed system uses a low-cost device, which makes it suitable for widespread use. The performance of the learning algorithms utilizing two different areas of the mucous membrane of the eye is discussed. In particular, the RUSBoost algorithm, when appropriately trained on palpebral conjunctiva images, shows good performance in classifying anemic and nonanemic patients. The results are very robust, even when considering different ethnicities.


Assuntos
Anemia , Humanos , Anemia/diagnóstico , Túnica Conjuntiva , Palidez/diagnóstico , Algoritmos
19.
Dysphagia ; 38(1): 446-456, 2023 02.
Artigo em Inglês | MEDLINE | ID: mdl-35841456

RESUMO

In this study, we aimed to identify the factors related to esophageal impaction following button battery (BB) ingestion in children. PilBouTox, a prospective multicentric observational cohort study, was conducted from French Poison Control Centers between June 1, 2016 and May 31, 2018. Children (0-12 years old) with BB ingestion were included. After ingestion, patients were monitored for 21 days or more if they remained symptomatic (maximum 1 year). Causes of ingestion, clinical manifestations, medical management, and the outcomes were recorded. In total, 415 patients were included; among them, 35 had esophageal impaction and 14 had severe complications or died. Seven symptoms were closely related (relative risk (RR) > 30) to esophageal impaction: anorexia, drooling, dyspnea, fever, hemodynamic instability, pallor, and pain. Furthermore, BBs > 15 mm were related to esophageal impaction (RR = 19, CI95% [4.1; 88]). The absence of initial symptoms was a protective factor for esophageal impaction (RR = 0.013, CI95% [0.002; 0.1]). Nine symptoms were closely related (RR > 30) to major effects and death: dyspnea, cough, dysphagia, drooling, fever, hemodynamic instability, pain, pallor, and vomiting. Seven symptoms were related to esophageal impaction and their rapid recognition could help to ensure that the patient is taken to a health care facility. Nine factors were related to the major effects of BB ingestion. We recommended an X-ray as soon as possible to determine the position of the BB.Trial Registry: Clinical Trial ID: NCT03708250, https://clinicaltrials.gov/ct2/show/NCT03708250.


Assuntos
Corpos Estranhos , Sialorreia , Criança , Humanos , Recém-Nascido , Lactente , Pré-Escolar , Estudos Prospectivos , Palidez/complicações , Corpos Estranhos/complicações , Estudos Retrospectivos , Ingestão de Alimentos , Progressão da Doença
20.
Ophthalmic Genet ; 44(4): 379-384, 2023 08.
Artigo em Inglês | MEDLINE | ID: mdl-36098092

RESUMO

PURPOSE: Hereditary Motor Sensory Neuropathy Type VIA with Optic Atrophy (HMSN6A) is a rare variant subtype of mitofusin 2 (MFN2) associated Charcot-Marie-Tooth disease, with ophthalmic manifestations largely limited to optic atrophy. We report a case series of two sisters with HMSN6A corresponding to known variants in the MFN2 gene. The proband's mother, maternal aunt, and maternal grandfather were also reportedly affected with the condition, although not examined at our institution. The clinical presentations of the proband and her sister are reviewed in detail. In addition, a comprehensive review of ophthalmic findings from prior reported cases of HMSN6A is provided. OBSERVATIONS: HMSN6A is a neurologic disorder characterized by a motor sensory axonal neuropathy and optic atrophy. A range of additional ophthalmic manifestations have been reported in the literature. We highlight the proband and her sister who demonstrate this phenotype but also manifested other ocular abnormalities from an early age. In addition to optic nerve pallor, both sisters had additional ophthalmic features of bilateral pathologic myopia, limited vision, nystagmus, and strabismus. CONCLUSIONS AND IMPORTANCE: This case series and review describe the ophthalmologic findings of HMSN6A and provides incentive to further investigate the correlation between molecular findings and the phenotype.


Assuntos
Neuropatia Hereditária Motora e Sensorial , Atrofia Óptica , Feminino , Humanos , Palidez , Atrofia Óptica/diagnóstico , Atrofia Óptica/genética , Nervo Óptico , Proteínas Mitocondriais/genética
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