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1.
Neurol India ; 70(3): 1048-1051, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35864637

RESUMO

Introduction: Spastic cerebral palsy (CP) is the commonest physiological type according to literature which comes mainly from the developed countries where prematurity is a common cause for cerebral palsy. In developing countries like India, the leading causes of cerebral palsy are birth asphyxia, infections, and hyperbilirubinemia and, hence, the physiological type of CP is likely to be different. However, the data from our country is scant. Methods: 103 consecutive treatment-naive CP patients attending pediatric neurology clinic were evaluated in detail using an objective tool, hypertonia assessment tool (HAT) over a period of 6months. Based on the predominant tone, the cases were classified as spastic, dyskinetic, ataxic/hypotonic, and mixed. The type of cerebral palsy was correlated with perinatal details and neuroimaging findings. Results: Out of 103 children, the most common physiological type of CP seen was of dyskinetic type [54 (52.4%)], followed by spastic CP in 30 (29.1%) and mixed (dyskinetic+spastic) CP in 19 (18.4%) children. The most common cause for dyskinetic CP was perinatal asphyxia 33 (61%); for spastic CP was prematurity 17 (56.7%) and; for mixed CP, the main cause was perinatal asphyxia 12 (63.2%). The main neuroimaging finding in predominant dyskinetic CP was basal ganglia/thalamus involvement followed by pericentral and perirolandic gliosis, whereas in spastic CP, it was periventricular leucomalacia. In mixed CP, there was multicystic encephalomalacia. Conclusions: Dyskinetic CP either as predominant type or along with spasticity is the most common physiological type of CP in India and is due to birth-asphyxia, hyperbilirubinemia, hypoglycemia, and infections.


Assuntos
Paralisia Cerebral , Asfixia/complicações , Paralisia Cerebral/complicações , Criança , Feminino , Humanos , Hiperbilirrubinemia/complicações , Espasticidade Muscular/etiologia , Neuroimagem , Gravidez
2.
Med Sci (Basel) ; 10(3)2022 07 04.
Artigo em Inglês | MEDLINE | ID: mdl-35893118

RESUMO

Several studies have reported elevated serum bilirubin or reduced serum sodium levels in patients with complicated appendicitis (CA). This study examined the efficacy of hyperbilirubinemia, hyponatremia, and both combined in the preoperative diagnosis of CA. Patients who underwent surgery for acute appendicitis were included in this retrospective review. In total, 247 patients were included in the final analysis. Of these, 36 (14.2%) had early appendicitis, 177 (72.0%) had acute suppurative appendicitis, 32 (13.0%) had necrotizing/gangrenous acute appendicitis, and 2 (0.8%) had other types of appendicitis. The mean total bilirubin (TBIL) level was significantly higher in patients with CA than in those with uncomplicated appendicitis. Conversely, the mean serum sodium level was significantly lower in patients with CA than in those with uncomplicated appendicitis. The levels of TBIL (odds ratio: 1.098, 95% CI: 1.052-1.147) and serum sodium (odds ratio: 0.743, 95% CI: 0.646-0.855) were associated with CA. Hyponatremia combined with hyperbilirubinemia yielded significant discriminatory value for the diagnosis of CA. TBIL and serum sodium levels can be considered as adjuvant parameters in the diagnosis of perforated/necrotizing appendicitis. Although hyperbilirubinemia and hyponatremia together were better able to determine the risk of CA than either marker alone, other markers are required to definitively predict CA. Furthermore, large-scale studies are needed to confirm these findings.


Assuntos
Apendicite , Hiponatremia , Doença Aguda , Apendicite/complicações , Apendicite/diagnóstico , Apendicite/cirurgia , Bilirrubina , Biomarcadores , Humanos , Hiperbilirrubinemia/complicações , Hiponatremia/complicações , Sódio
3.
Fluids Barriers CNS ; 19(1): 47, 2022 Jun 07.
Artigo em Inglês | MEDLINE | ID: mdl-35672829

RESUMO

BACKGROUND: Severe neonatal jaundice resulting from elevated levels of unconjugated bilirubin in the blood induces dramatic neurological impairment. Central oxidative stress and an inflammatory response have been associated with the pathophysiological mechanism. Cells forming the blood-brain barrier and the choroidal blood-CSF barrier are the first CNS cells exposed to increased plasma levels of unconjugated bilirubin. These barriers are key regulators of brain homeostasis and require active oxidative metabolism to fulfill their protective functions. The choroid plexus-CSF system is involved in neuroinflammatory processes. In this paper, we address the impact of neonatal hyperbilirubinemia on some aspects of brain barriers. We describe physiological changes in the neurovascular network, blood-brain/CSF barriers integrities, and CSF cytokine levels during the postnatal period in normobilirubinemic animals, and analyze these parameters in parallel in Gunn rats that are deficient in bilirubin catabolism and develop postnatal hyperbilirubinemia. METHODS: Gunn rats bearing a mutation in UGT1a genes were used. The neurovascular network was analyzed by immunofluorescence stereomicroscopy. The integrity of the barriers was evaluated by [14C]-sucrose permeability measurement. CSF cytokine levels were measured by multiplex immunoassay. The choroid plexus-CSF system response to an inflammatory challenge was assessed by enumerating CSF leukocytes. RESULTS: In normobilirubinemic animals, the neurovascular network expands postnatally and displays stage-specific regional variations in its complexity. Network expansion is not affected by hyperbilirubinemia. Permeability of the blood-brain and blood-CSF barriers to sucrose decreases between one- and 9-day-old animals, and does not differ between normobilirubinemic and hyperbilirubinemic rats. Cytokine profiles differ between CSF and plasma in all 1-, 9-, and 18-day-old animals. The CSF cytokine profile in 1-day-old animals is markedly different from that established in older animals. Hyperbilirubinemia perturbs these cytokine profiles only to a very limited extent, and reduces CSF immune cell infiltration triggered by systemic exposure to a bacterial lipopeptide. CONCLUSION: The data highlight developmental specificities of the blood-brain barrier organization and of CSF cytokine content. They also indicate that a direct effect of bilirubin on the vascular system organization, brain barriers morphological integrity, and inflammatory response of the choroid plexus-CSF system is not involved in the alteration of brain functions induced by severe neonatal jaundice.


Assuntos
Barreira Hematoencefálica , Icterícia Neonatal , Animais , Bilirrubina/metabolismo , Barreira Hematoencefálica/metabolismo , Líquido Cefalorraquidiano/metabolismo , Plexo Corióideo/metabolismo , Citocinas/metabolismo , Humanos , Hiperbilirrubinemia/metabolismo , Recém-Nascido , Icterícia Neonatal/metabolismo , Ratos , Ratos Gunn , Sacarose
4.
Pediatr Ann ; 51(6): e219-e227, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-35667102

RESUMO

Neonatal hyperbilirubinemia (NH) is a common phenomenon. In most cases, NH is benign and transient. However, in severe NH cases, neonates can develop encephalopathy and kernicterus. With appropriate screening and treatment, these adverse sequelae can be prevented. This article aims to provide the reader with an in-depth understanding of (1) bilirubin metabolism, (2) risk factors for severe NH, (3) NH screening and treatment, (4) various etiologies of severe NH, and (5) consequences of severe, untreated NH. [Pediatr Ann. 2022;51(6):e219-e227.].


Assuntos
Hiperbilirrubinemia Neonatal , Kernicterus , Bilirrubina , Humanos , Hiperbilirrubinemia/complicações , Hiperbilirrubinemia/prevenção & controle , Hiperbilirrubinemia Neonatal/diagnóstico , Hiperbilirrubinemia Neonatal/etiologia , Hiperbilirrubinemia Neonatal/terapia , Recém-Nascido , Kernicterus/diagnóstico , Kernicterus/etiologia , Kernicterus/prevenção & controle , Triagem Neonatal , Fatores de Risco
5.
Zhong Nan Da Xue Xue Bao Yi Xue Ban ; 47(5): 535-545, 2022 May 28.
Artigo em Inglês, Chinês | MEDLINE | ID: mdl-35753723

RESUMO

OBJECTIVES: Acute kidney injury (AKI) is one of the common complications in critically ill septic patients, which is associated with increased risks of death, cardiovascular events, and chronic renal dysfunction. The duration of AKI and the renal function recovery status after AKI onset can affect the patient prognosis. Nevertheless, it remains controversial whether early recovery status after AKI is closely related to the prognosis in patients with sepsis-associated AKI (SA-AKI). In addition, early prediction of renal function recovery after AKI is beneficial to individualized treatment decision-making and prevention of severe complications, thus improving the prognosis. At present, there is limited clinical information on how to identify SA-AKI patients at high risk of unrecovered renal function at an early stage. The study aims to investigate the association between early recovery status after SA-AKI, identify risk factors for unrecovered renal function, and to improve patients' quality of life. METHODS: We retrospectively analyzed clinical data of septic patients who were admitted to the intensive care unit (ICU) and developed AKI within the first 48 hours after ICU admission in the Second Xiangya Hospital and the Third Xiangya Hospital of Central South University from January 2015 to March 2017. Sepsis was defined based on the Third International Consensus Definitions for Sepsis and Septic Shock (Sepsis-3). AKI was diagnosed and staged according to the 2012 Kidney Disease: Improving Global Outcomes (KDIGO) guideline. SA-AKI patients were assigned into 3 groups including a complete recovery group, a partial recovery group, and an unrecovered group based on recovery status at Day 7 after the diagnosis of AKI. Patients' baseline characteristics were collected, including demographics, comorbidities, clinical and laboratory examination information at ICU admission, and treatment within the first 24 hours. The primary outcome of the study was the composite of death and chronic dialysis at 90 days, and secondary outcomes included length of stay in the ICU, length of stay in the hospital, and persistent renal dysfunction. Multivariate regression analysis was performed to evaluate the prognostic value of early recovery status after AKI and to determine the risk factors for unrecovered renal function after AKI. Sensitivity analysis was conducted in patients who still stayed in hospital on Day 7 after AKI diagnosis, patients without premorbid chronic kidney disease, and patients with AKI Stage 2 to 3. RESULTS: A total of 553 SA-AKI patients were enrolled, of whom 251 (45.4%), 73 (13.2%), and 229 (41.4%) were categorized as the complete recovery group, the partial recovery group, and the unrecovered group, respectively. Compared with the complete or partial recovery group, the unrecovered group had a higher incidence of 90-day mortality (unrecovered vs partial recovery or complete recovery: 64.2% vs 26.0% or 22.7%; P<0.001) and 90-day composite outcome (unrecovered vs partial recovery or complete recovery: 65.1% vs 27.4% or 22.7%; P<0.001). The unrecovered group also had a shorter length of stay in the hospital and a larger proportion of progression into persistent renal dysfunction than the other 2 groups. After adjustment for potential confounders, patients in the unrecovered group were at an increased risk of 90-day mortality (HR=3.50, 95% CI 2.47 to 4.96, P<0.001) and 90-day composite outcome (OR=5.55, 95% CI 3.43 to 8.98, P<0.001) when compared with patients in the complete recovery group, but patients in the partial recovery group had no significant difference (P>0.05). Male sex, congestive heart failure, pneumonia, respiratory rate >20 beats per minute, anemia, hyperbilirubinemia, need for mechanical ventilation, and AKI Stage 3 were identified as independent risk factors for unrecovered renal function after AKI. The sensitivity analysis further supported that unrecovered renal function after AKI remained an independent predictor for 90-day mortality and composite outcome in the subgroups. CONCLUSIONS: The early recovery status after AKI is closely associated with poor prognosis in critically ill patients with SA-AKI. Unrecovered renal function within the first 7 days after AKI diagnosis is an independent predictor for 90-day mortality and composite outcome. Male sex, congestive heart failure, pneumonia, tachypnea, anemia, hyperbilirubinemia, respiratory failure, and severe AKI are risk factors for unrecovered renal function after AKI. Therefore, timely assessment for the renal function in the early phase after AKI diagnosis is essential for SA-AKI patients. Furthermore, patients with unrecovered renal function after AKI need additional management in the hospital, including rigorous monitoring, avoidance of nephrotoxin, and continuous assessment for the renal function, and after discharge, including more frequent follow-up, regular outpatient consultation, and prevention of long-term adverse events.


Assuntos
Injúria Renal Aguda , Insuficiência Cardíaca , Sepse , Injúria Renal Aguda/diagnóstico , Injúria Renal Aguda/etiologia , Injúria Renal Aguda/terapia , Estado Terminal , Humanos , Hiperbilirrubinemia/complicações , Unidades de Terapia Intensiva , Masculino , Prognóstico , Qualidade de Vida , Estudos Retrospectivos , Sepse/complicações
6.
PLoS One ; 17(6): e0269286, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35709090

RESUMO

BACKGROUND: Severe hyperbilirubinemia is more frequent in low- and middle-income countries such as Indonesia than in high-income countries. One of the contributing factors might be the lack of adherence to existing guidelines on the diagnosis and treatment of hyperbilirubinemia. We developed a new national guideline for hyperbilirubinemia management in Indonesia. To help healthcare workers use this guideline, a web-based decision support tool application may improve both the adherence to the guideline and the care for infants with hyperbilirubinemia. METHODS: We developed a web-based application (BiliNorm) to be used on a smartphone that displays the bilirubin level of the patient on the nomogram and advises about the treatment that should be started. Healthcare workers of two teaching hospitals in East Java, Indonesia, were trained on the use of BiliNorm. At 6 months after the introduction, a questionnaire was sent to those who worked with the application enquiring about their experiences. An observational study was conducted in two time epochs. A chart review of infants with hyperbilirubinemia in the two hospitals was sent. The appropriateness of hyperbilirubinemia management during a 6-month period before BiliNorm introduction was compared to that during a 7-month period after its introduction. RESULTS: A total of 43 participants filled in the questionnaire, the majority (72%) of them indicated that BiliNorm was well received and easy to use. Moreover, 84% indicated that BiliNorm was helpful for the decision to start phototherapy. Chart review of 255 infants before BiliNorm introduction and that of 181 infants after its introduction indicated that significantly more infants had received treatment according to the guideline (38% vs 51%, p = 0.006). Few infants received phototherapy, but bilirubin level was not measured (14% vs 7%, p = 0.024). There was no difference in the proportion of infants who were over- and under-treated (34% vs 32% and 14% vs 10%, respectively). CONCLUSIONS: The web-based decision tool BiliNorm appears to be a valuable application. It is easy to use for healthcare workers and helps them adhere to the guideline. It improves the care for infants with hyperbilirubinemia and may help reduce the incidence of severe hyperbilirubinemia in Indonesia.


Assuntos
Doenças Hematológicas , Hiperbilirrubinemia Neonatal , Aplicativos Móveis , Bilirrubina , Humanos , Hiperbilirrubinemia/epidemiologia , Hiperbilirrubinemia Neonatal/terapia , Indonésia/epidemiologia , Recém-Nascido , Fototerapia
7.
BMC Med Educ ; 22(1): 480, 2022 Jun 20.
Artigo em Inglês | MEDLINE | ID: mdl-35725443

RESUMO

INTRODUCTION: Exchange transfusion is the treatment of choice for patients with severe hyperbilirubinemia who do not respond to phototherapy. This procedure is highly complex and requires substantial expertise to perform, however it´s not done frequently enough to guarantee adequate training. Traditional learning scenarios do not have a space reserved for teaching this procedure or an instrument that fully and objectively evaluates the skills that a professional must acquire.  OBJECTIVES: The purpose was to construct and evaluate the INEXTUS instrument´s validity evidence relevant to internal structure, in a simulated scenario through the performance of an objective structured clinical exam (OSCE).  MATERIALS AND METHODS: The Delphi consensus methodology was utilized to design the instrument; six experts participated through three rounds using the Google Forms platform. The categories and items previously obtained were subjected to validation by nine experts through a dichotomous survey. Prior to data collection, the evaluators were trained through a pilot test with 10 medical students. Subsequently, all residents of a paediatric programme were evaluated through the OSCE methodology in a simulated scenario, with 6 stations, of a clinical case of a new-born with an explicit need for exchange transfusion. During their participation in the scenario, the residents were first evaluated with the instrument developed. Additionally, audio and video filming of all students who participated was performed with the aim of conducting a second evaluation two weeks after the first four evaluators participated. RESULTS: The final INEXTUS instrument consists of 46 subitems grouped into 23 items divided into 6 categories, demonstrating an inter-rater intraclass correlation coefficient of 0.96 (95% CI 0.94, 0.98 p-value < 0.001). For the Fleiss Kappa of the 23 items evaluated, concordance was evaluated for 14 items but could not be determined for the 9 remaining items because all the ratings were equal, either because the items were not performed or they were all performed adequately. Of the 14 items, 9 good scores were obtained (95% CI 0.61 to 0.8; p value < 0.001), and 5 very good scores were obtained (95% CI 0.81 to 1; p value < 0.001). CONCLUSIONS: The INEXTUS instrument evaluates exchange transfusion skills in medical personnel in training in simulated scenarios using the OSCE methodology; it has high validity and reliability and is a high-impact educational tool.


Assuntos
Competência Clínica , Avaliação Educacional , Estudantes de Medicina , Transfusão de Sangue , Competência Clínica/normas , Avaliação Educacional/métodos , Humanos , Hiperbilirrubinemia/terapia , Reprodutibilidade dos Testes
8.
Ital J Pediatr ; 48(1): 103, 2022 Jun 20.
Artigo em Inglês | MEDLINE | ID: mdl-35725569

RESUMO

BACKGROUND: Phototherapy (PT) is the most often utilized technique for treating and preventing severe hyperbilirubinemia in the term and preterm newborns. PT's proven benefit is that it decreases the requirement for exchange transfusions. To investigate the effect of PT on allergic response mediators in neonates with hyperbilirubinemia treated by PT, eosinophil counts and tumor necrosis factor alfa levels have been assessed. METHODS: This cross-sectional study included 100 full-term infants with indirect hyperbilirubinemia in the first two weeks of life who were indicated for PT. They were investigated by tumor necrosis factor α and eosinophil counts before and 72 h after starting PT. The used tests were paired with Student's t-test and Pearson coefficient. RESULTS: Relative and absolute eosinophil counts and tumor necrosis factor alfa were significantly higher after PT than before (p < 0.001). There was a significant positive correlation between total serum bilirubin and both tumor necrosis factor alfa and eosinophil % (r = 0.442 and r = 0.362, respectively, P < 0.001) before PT. There was a significant positive correlation between total serum bilirubin and both eosinophil count and eosinophil % (r = 0.281and r = 0.339), respectively (P < 0.001) after PT. There was a significant positive correlation between both tumor necrosis factor alfa and eosinophil % after PT (r = 0.545, P < 0.001). CONCLUSIONS: Serum tumor necrosis factor-alpha and eosinophilic count increased after treatment of neonatal hyperbilirubinemia by PT, which indicates an allergic response to PT in neonates.


Assuntos
Hiperbilirrubinemia Neonatal , Fator de Necrose Tumoral alfa , Bilirrubina , Estudos Transversais , Eosinófilos , Humanos , Hiperbilirrubinemia/terapia , Hiperbilirrubinemia Neonatal/terapia , Lactente , Recém-Nascido , Fototerapia
9.
Pediatrics ; 150(1)2022 07 01.
Artigo em Inglês | MEDLINE | ID: mdl-35773519

RESUMO

A 12-day-old, full-term female, born small for gestational age, presented to the emergency department with a 1-week history of worsening hyperbilirubinemia, intermittent hypoglycemia, and episodic hypothermia. The baby's emergency department evaluation revealed transaminitis, pneumatosis intestinalis, indirect hyperbilirubinemia, and hypoglycemia. She was admitted to the ICU and received intravenous glucose, bowel rest, and phototherapy. Thyroid-stimulating hormone, thyroxine, and cortisol levels were low, and growth hormone was undetectable. The patient was hospitalized for a total of 19 days and was discharged from the hospital.


Assuntos
Hipoglicemia , Hipotermia , Doenças do Recém-Nascido , Feminino , Humanos , Hiperbilirrubinemia/etiologia , Hiperbilirrubinemia/terapia , Hipoglicemia/diagnóstico , Hipoglicemia/etiologia , Hipotermia/complicações , Hipotermia/diagnóstico , Recém-Nascido , Fototerapia
10.
Sci Rep ; 12(1): 7847, 2022 05 12.
Artigo em Inglês | MEDLINE | ID: mdl-35552472

RESUMO

Glecaprevir is a substrate for organic anion-transporting polypeptide (OATP) 1B1/1B3, which transports bilirubin. Hyperbilirubinemia is an adverse event during anti-hepatitis C virus treatment with glecaprevir and pibrentasvir. Gadoxetic acid is also transported by OATP1B1/1B3, and we aimed to evaluate whether gadoxetic acid-enhanced magnetic resonance (MR) imaging was associated with glecaprevir trough concentrations (Ctrough). We further determined whether this was predictive of hyperbilirubinemia development in a cohort of 33 patients. The contrast enhancement index (CEI), a measure of hepatic enhancement effect on the hepatobiliary image, was assessed. Glecaprevir Ctrough was determined 7 days after administration. Five of the 33 patients (15%) developed Common Terminology Criteria for Adverse Events grade ≥ 2 hyperbilirubinemia. We found a negative relationship between CEI and Ctrough (r = - 0.726, p < 0.001). The partial correlation coefficient between CEI and Ctrough was - 0.654 (p < 0.001), while excluding the effects of albumin, FIB-4 index, and indirect bilirubin at baseline. The Ctrough was significantly higher in patients with hyperbilirubinemia than in those without (p = 0.008). In multivariate analysis, CEI ≤ 1.71 was an independent factor influencing the development of hyperbilirubinemia (p = 0.046). Our findings indicate that gadoxetic acid MR imaging can help predict glecaprevir concentration and development of hyperbilirubinemia.


Assuntos
Hepacivirus , Hepatite C , Ácidos Aminoisobutíricos , Bilirrubina , Ciclopropanos , Gadolínio DTPA , Humanos , Hiperbilirrubinemia/induzido quimicamente , Lactamas Macrocíclicas , Leucina/análogos & derivados , Imageamento por Ressonância Magnética/métodos , Prolina/análogos & derivados , Quinoxalinas , Sulfonamidas
11.
Pulm Pharmacol Ther ; 73-74: 102132, 2022 06.
Artigo em Inglês | MEDLINE | ID: mdl-35595003

RESUMO

We investigated the safety, tolerability and pharmacokinetic (PK) profile of pretomanid (formerly PA-824) in healthy Chinese volunteers. This was a single-center, double-blind, placebo-controlled, phase I dose escalation study, in which healthy volunteers were consecutively allocated to increasing pretomanid dose groups (50, 100, 200, 400, 600, 800, or 1000 mg) and randomized to receive pretomanid or matching placebo. The primary objective was to evaluate the safety, tolerability and PK profile of pretomanid. In total, 306 volunteers were screened, and 60 were assigned to treatment (pretomanid: n = 46, placebo: n = 14) of whom 83.3% were male, age ranged from 19 to 39 years and BMI ranged from 19.2 to 25.9 kg/m2. At least one adverse event (AE) was reported by 67.4% of subjects assigned to pretomanid and 50.0% of those who received placebo, there were no serious AEs or AEs leading to withdrawal. Drug-related events that occurred in ≥5% of participants assigned to pretomanid were proteinuria (26.1%), insignificant microscopic hematuria (15.2%), conjugated hyperbilirubinemia (6.5%), hyperbilirubinemia (6.5%) and elevated uric acid (6.5%). No relationship between pretomanid dose and AEs was observed. In the PK analysis (n = 46), maximum pretomanid plasma concentration was reached in a median of 4 h in all dose groups except 800 mg (12 h) and the plasma half-life ranged from 20.2 to 25.2 h. No dose proportionality was observed for maximum plasma concentration, or area under the plasma concentration curve. In conclusion, single pretomanid doses from 50 to 1000 mg were well tolerated in healthy Chinese participants and the PK profile was generally consistent with findings in non-Chinese populations.


Assuntos
Hiperbilirrubinemia , Adulto , Área Sob a Curva , China , Relação Dose-Resposta a Droga , Método Duplo-Cego , Feminino , Voluntários Saudáveis , Humanos , Masculino , Nitroimidazóis , Adulto Jovem
12.
Int J Pediatr Otorhinolaryngol ; 158: 111171, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-35552163

RESUMO

OBJECTIVES: To determine the incidence, prevalence and describe risk factors and etiology for childhood Auditory Neuropathy Spectrum Disorder using population level data from a statewide universal newborn hearing program. METHODS: A retrospective statewide universal newborn hearing screening database review and descriptive analysis from 2012 to 2019 of demographic, risk factors and hearing loss etiology for babies with sensorineural hearing loss and ANSD was completed. A 2 stage aABR protocol was used and ANSD was classified when click evoked ABR were absent or grossly abnormal but otoacoustic emissions and or cochlear microphonics were present. Medical evaluation and investigation by a pediatrician or otolaryngologist was performed and etiology was assigned using a coding scheme. Next generation genetic sequencing was not available. RESULTS: From 2012 to 2019, 487 636 babies were screened for congenital hearing loss (99.1%) and 1150 were confirmed to have permanent SNHL, 80 of whom were diagnosed with ANSD (52 unilateral and 28 bilateral). The prevalence of ANSD was 7.0% and population prevalence was 0.16 per 1000 live births. The only demographic or risk factor significantly more likely to be associated with ANSD than SNHL was hyperbilirubinemia. The most common etiology for ANSD was hypoplasia or absence of the cochlear nerve with 37 cases (46.3%), and it was significantly more likely with unilateral than bilateral ANSD. CONCLUSION: At a population level, ANSD was more likely to be unilateral and the only perinatal risk factor significantly associated was hyperbilirubinemia. Cochlear nerve deficiency was the most common etiology. Given that this can occur in well babies, this provides further evidence for aABR as a preferred mode for newborn hearing screening.


Assuntos
Surdez , Perda Auditiva Central , Perda Auditiva Neurossensorial , Criança , Nervo Coclear , Potenciais Evocados Auditivos do Tronco Encefálico/fisiologia , Perda Auditiva Central/diagnóstico , Perda Auditiva Central/epidemiologia , Perda Auditiva Neurossensorial/diagnóstico , Perda Auditiva Neurossensorial/epidemiologia , Perda Auditiva Neurossensorial/etiologia , Humanos , Hiperbilirrubinemia , Lactente , Recém-Nascido , Estudos Retrospectivos
13.
PLoS One ; 17(5): e0268017, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35536841

RESUMO

Although very recently, in Egypt, sick newborn screening has included screening for hepatorenal tyrosinemia, yet, it is not yet included in nationwide neonatal screening and hence diagnosis may be delayed. The aim of this study was to analyze data of all cases presenting with hepatorenal tyrosinemia to the Pediatric Hepatology Unit, Cairo University, Egypt from 2006 to 2019. Data were retrieved from patients' files including age of onset of symptoms, clinical signs, blood counts, liver functions, serum phosphorous, alpha-fetoprotein, succinylacetone and abdominal ultrasound. During this period, 76 patients were diagnosed with hepatorenal tyrosinemia if succinylacetone in dry blood spot was elevated above 1 µmol/L. These 76 cases came from 70 families; consanguinity was reported in 61 families. In our cohort we reported 30 affected siblings with a similar clinical presentation, who died undiagnosed. Presentation was acute in 26%, subacute in 30% and chronic in 43%. Abdominal distention was the commonest presenting symptom (52.6%). Coagulopathy was the commonest derangement in liver functions; hyperbilirubinemia and raised transaminases were less common. Ultrasound findings included hepatic focal lesions in 47% and enlarged echogenic kidneys in 39% and 45.3% respectively. Only 20 children were treated with Nitisinone because of unavailability and high costs; seven out of them underwent liver transplantation. In conclusion, although hepatorenal tyrosinemia is a rare inborn error of metabolism, in a large population country with high rate of consanguinity; this disease is not uncommonly diagnosed. The current treatment is not readily available because of the costs in a resource-limited country. Neonatal screening and subsidization of the costly medication need to be considered.


Assuntos
Transplante de Fígado , Tirosinemias , Criança , Egito/epidemiologia , Humanos , Hiperbilirrubinemia , Recém-Nascido , Triagem Neonatal , Tirosinemias/complicações , Tirosinemias/diagnóstico , Tirosinemias/tratamento farmacológico
14.
J Cardiothorac Surg ; 17(1): 129, 2022 May 26.
Artigo em Inglês | MEDLINE | ID: mdl-35619178

RESUMO

BACKGROUND: Hyperbilirubinemia following cardiac surgery is a common phenomenon and is of emerging interest in prognostic factor research. This systematic review and meta-analysis evaluated the association between post-operative hyperbilirubinemia (PH) and mortality and morbidity in cardiac surgery patients. METHODS: Ovid Medline and Ovid Embase were searched from inception to July 2020 for studies evaluating the prognostic significance of PH following cardiac surgery. Maximally adjusted odds ratios (OR) with associated confidence intervals were obtained from each study and pooled using random effects inverse variance modelling to assess in-hospital mortality. Standardised mean differences were pooled to assess Intensive Care Unit (ICU) and hospital length of stay (LOS). Qualitative analysis was performed to assess ventilation requirements and long-term mortality. Meta-regression was used to assess inter- and intra-study heterogeneity. RESULTS: 3251 studies satisfied the selection criteria, from which 12 studies incorporating 3876 participants were included. PH significantly predicted in-hospital mortality with a pooled OR of 7.29 (95% CI 3.53, 15.09). Multiple pre-defined covariates contributed to the prognostic significance of PH, however only aortic cross-clamp time (p < 0.0001) and number of transfusions (p = 0.0001) were significant effect modifiers. PH significantly predicted both ICU LOS (Mean difference 1.32 [95% CI 0.04-2.6]) and hospital LOS (Mean difference 1.79 [95% CI 0.36-3.21]). Qualitative analysis suggested PH is associated with increased post-operative ventilation requirements and reduced long-term survival rates. CONCLUSIONS: Hyperbilirubinemia is a cost-effective, widely available prognostic marker of adverse outcomes following cardiac surgery, albeit with residual sources of heterogeneity.


Assuntos
Procedimentos Cirúrgicos Cardíacos , Procedimentos Cirúrgicos Cardíacos/efeitos adversos , Mortalidade Hospitalar , Humanos , Hiperbilirrubinemia/etiologia , Tempo de Internação , Prognóstico
16.
Ann Med ; 54(1): 1226-1232, 2022 12.
Artigo em Inglês | MEDLINE | ID: mdl-35481407

RESUMO

OBJECTIVES: To evaluate the clinical characteristics and prognostic factors of hepatic systemic light chain (AL) amyloidosis. METHODS: Eighty-eight patients diagnosed AL amyloidosis with hepatic involvement between June 2004 and January 2019 were analysed retrospectively. RESULTS: The median age of the patients was 55 years old, and the male to female ratio was 2.8:1.The main clinical manifestations include edema, digestive symptoms, weight loss, fatigue and ascites. Fifty-one patients received treatment, 42 patients were suitable for therapeutic efficacy evaluation and 25 (59.5%) achieved haematologic response. The median survival time was nine months, and the survival rates at one year, three years and five years were 33.0%, 11.4% and 6.8%, respectively. The risk of death was 6.6 times that of those who did not achieve haematologic response. Multivariate analysis showed that baseline NT-proBNP ≥ 1800 pg/ml and total bilirubin ≥ 34.2 umol/L were predictive of all-cause death. CONCLUSIONS: Systemic light chain amyloidosis with hepatic involvement is associated with poor survival but rarely has specific manifestations. The significant increase of NT-proBNP and hyperbilirubinemia indicate a poor prognosis. Vigilance should be raised to the relevant clinical manifestations, early diagnosis and timely treatment can improve the prognosis. KEY MESSAGESSystemic light chain amyloidosis with hepatic involvement is associated with poor survival but rarely has specific manifestations.The significant increase of NT-proBNP and hyperbilirubinemia indicate a poor prognosis.


Assuntos
Amiloidose , Amiloidose de Cadeia Leve de Imunoglobulina , Amiloidose/complicações , Amiloidose/diagnóstico , Amiloidose/tratamento farmacológico , Feminino , Humanos , Hiperbilirrubinemia/complicações , Amiloidose de Cadeia Leve de Imunoglobulina/complicações , Amiloidose de Cadeia Leve de Imunoglobulina/diagnóstico , Masculino , Pessoa de Meia-Idade , Prognóstico , Estudos Retrospectivos
17.
Ital J Pediatr ; 48(1): 59, 2022 Apr 18.
Artigo em Inglês | MEDLINE | ID: mdl-35436954

RESUMO

BACKGROUND: Several mutations of bilirubin uridine diphosphate-glucuronosyltransferase gene (UGT1A1) have been reported in patients with unconjugated hyperbilirubinemia. Few reports are available about the p.Pro364Leu mutation (P364L, c.1091C > T) in homozygous newborns. We describe the clinical, laboratory and therapeutic approach in two Chinese neonates with severe jaundice, homozygous for the P364L mutation. CASE PRESENTATION: Two Chinese breastfed female infants presented prolonged unconjugated hyperbilirubinemia at the age of 1 month. Total bilirubin was higher than 15 mg/dl (D < 1). An exhaustive etiological work-up to detect possible causes of hyperbilirubinemia (notably hemolytic ones) was negative. The promoter and coding regions of UGT1A1 were amplified by polymerase chain reaction (PCR) from genomic DNA isolated from leukocytes. Both patients resulted homozygous for a variant site within the coding region of the gene in the 4 exon, c.1091C > T, p.Pro364Leu. In front of the persistently high level of unconjugated bilirubin, phototherapy was performed without persistent results. A treatment with phenobarbital was then begun and bilirubin level progressively decreased, with a complete and persistent normalization. The therapy was stopped. CONCLUSION: UGT1A1 enzyme activity associated with the P364L mutation has been described as 35.6% of the wild-type enzyme activity. Photo-therapy and phenobarbital can be useful in front of persistently high level of unconjugated bilirubin. Our cases presented high bilirubin values, overlapping between Gilbert syndrome (GS) and Crigler-Najjar syndrome type II (CNS), but the complete normalization of bilirubin makes GS more likely. Homozygous P364L variant can be associated with severe neonatal unconjugated hyperbilirubinemia in Chinese infants, but jaundice can completely resolve in a few months, contrary to what happens in Crigler-Najjar syndrome type II.


Assuntos
Síndrome de Crigler-Najjar , Doença de Gilbert , Hiperbilirrubinemia Neonatal , Bilirrubina , Síndrome de Crigler-Najjar/diagnóstico , Síndrome de Crigler-Najjar/genética , Síndrome de Crigler-Najjar/terapia , Feminino , Doença de Gilbert/diagnóstico , Doença de Gilbert/genética , Glucuronosiltransferase/genética , Humanos , Hiperbilirrubinemia/genética , Hiperbilirrubinemia Neonatal/diagnóstico , Hiperbilirrubinemia Neonatal/genética , Hiperbilirrubinemia Neonatal/terapia , Lactente , Recém-Nascido , Mutação , Fenobarbital
18.
Mymensingh Med J ; 31(2): 556-561, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-35383780

RESUMO

Hyperbilirubinemia is commonly seen in medical practice. But what could be the highest level of bilirubin in an individual that is still an unanswered question. We came across to a 37 years old lady in October 2018 with hepaticolithiasis who underwent extended choledocholithotomy. Her preoperative serum bilirubin was within normal range. Post-operatively she developed cholangitis and from 3rd post-operative day onwards she developed severe hyperbilirubinemia, which was high as 70.47 mg/dl on the 6th post-operative day. Other causes of post-operative hyperbilirubinemia were excluded. She was managed conservatively for this hyperbilirubinemia and bilirubin level gradually reduced.


Assuntos
Bilirrubina , Hiperbilirrubinemia , Adulto , Feminino , Humanos , Hiperbilirrubinemia/etiologia , Período Pós-Operatório
19.
Eur J Nucl Med Mol Imaging ; 49(10): 3340-3352, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-35394152

RESUMO

PURPOSE: To investigate the relationships between tumor absorbed dose (TAD) or normal tissue absorbed dose (NTAD) and clinical outcomes in hepatocellular carcinoma (HCC) treated with yttrium-90 glass microspheres. METHODS: TARGET was a retrospective investigation in 13 centers across eight countries. Key inclusion criteria: liver-dominant HCC with or without portal vein thrombosis, < 10 tumors per lobe (at least one ≥ 3 cm), Child-Pugh stage A/B7, BCLC stages A-C, and no prior intra-arterial treatment. Multi-compartment pre-treatment dosimetry was performed retrospectively. Primary endpoint was the relationship between ≥ grade 3 hyperbilirubinemia (such that > 15% of patients experienced an event) without disease progression and NTAD. Secondary endpoints included relationships between (1) objective response (OR) and TAD, (2) overall survival (OS) and TAD, and (3) alpha fetoprotein (AFP) and TAD. RESULTS: No relationship was found between NTAD and ≥ grade 3 hyperbilirubinemia, which occurred in 4.8% of the 209 patients. The mRECIST OR rate over all lesions was 61.7%; for the target (largest) lesion, 70.8%. Responders and non-responders had geometric mean total perfused TADs of 225.5 Gy and 188.3 Gy (p = 0.048). Probability of OR was higher with increasing TAD (p = 0.044). Higher TAD was associated with longer OS (HR per 100 Gy increase = 0.83, 95% CI: 0.71-0.95; p = 0.009). Increased TAD was associated with higher probability of AFP response (p = 0.046 for baseline AFP ≥ 200 ng/mL). CONCLUSION: Real-world data confirmed a significant association between TAD and OR, TAD and OS, and TAD and AFP response. No association was found between ≥ grade 3 hyperbilirubinemia and NTAD. TRIAL REGISTRATION NUMBER: NCT03295006.


Assuntos
Carcinoma Hepatocelular , Embolização Terapêutica , Neoplasias Hepáticas , Carcinoma Hepatocelular/patologia , Carcinoma Hepatocelular/radioterapia , Embolização Terapêutica/efeitos adversos , Humanos , Hiperbilirrubinemia/tratamento farmacológico , Neoplasias Hepáticas/patologia , Neoplasias Hepáticas/radioterapia , Microesferas , Estudos Retrospectivos , Resultado do Tratamento , Radioisótopos de Ítrio/uso terapêutico , alfa-Fetoproteínas
20.
Transpl Int ; 35: 10185, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35387394

RESUMO

End stage renal disease (ESRD) is a contraindication to isolated heart transplantation (HT). However, heart candidates with cardiogenic shock may experience acute kidney injury and require renal replacement therapy (RRT) and isolated HT as a life-saving operation. The outcomes, including survival and renal function, are rarely reported. We enrolled 569 patients undergoing isolated HT from 1989 to 2018. Among them, 66 patients required RRT before HT (34 transient and 32 persistent). The survival was worse in patients with RRT than those without (65.2% vs 84.7%; 27.3% vs 51.1% at 1- and 10-year, p < 0.001 and p = 0.012, respectively). Multivariate Cox analysis identified pre-transplant hyperbilirubinemia (Hazard ratio (HR) 2.534, 95% confidence interval (CI) 1.098-5.853, p = 0.029), post-transplant RRT (HR 5.551, 95%CI 1.280-24.068, p = 0.022) and post-transplant early bloodstream infection (HR 3.014, 95%CI 1.270-7.152, p = 0.012) as independent risk factors of 1-year mortality. The majority of operative survivors (98%) displayed renal recovery after HT. Although patients with persistent or transient RRT before HT had a similar long-term survival, patients with persistent RRT developed a high incidence (49.2%) of dialysis-dependent ESRD at 10 years. In transplant candidates with pretransplant RRT, hyperbilirubinemia should be carefully re-evaluated for the eligibility of HT whereas prevention and management of bloodstream infection after HT improve survival.


Assuntos
Injúria Renal Aguda , Transplante de Coração , Falência Renal Crônica , Sepse , Injúria Renal Aguda/etiologia , Injúria Renal Aguda/terapia , Transplante de Coração/efeitos adversos , Humanos , Hiperbilirrubinemia/complicações , Falência Renal Crônica/complicações , Falência Renal Crônica/cirurgia , Complicações Pós-Operatórias/etiologia , Terapia de Substituição Renal , Estudos Retrospectivos , Sepse/complicações
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