RESUMO
BACKGROUND AND AIMS: Coeliac disease (CD) is more common in those with type 1 diabetes mellitus (T1DM) and may be asymptomatic despite the presence of intestinal histological changes. Optimal screening practice guidelines differ internationally. We undertook a retrospective audit to determine the efficacy of current screening practice for CD in T1DM in our centre. METHODS: All children and adolescents < 16 years, diagnosed with T1DM in our service and continuing to attend the service in January 2017 were included. Data on CD screening was collected and compared to current NICE, NASPGHAN and ESPGHAN guidelines. RESULTS: Of the 355 patients attending our service, 253 attended from T1DM diagnosis and all had CD screening performed in our centre. In 37 of 253 patients, IgA-TTG was positive, providing a cumulative prevalence of 14.6%. Of these, 31(83.78%) with an elevated TTG on screening had no recorded gastrointestinal symptoms or CD-related clinical signs. Of the 35 TTG plus EMA-positive patients, 22/35 (59.46%) had diagnostic endoscopic biopsy. Nineteen (83.4%) had CD confirmed, 1 (4.54%) had negative biopsy and 2 (9%) had equivocal, non-diagnostic changes. CONCLUSIONS: Timely diagnosis of CD can prevent chronic ill health in affected individuals, and in patients with T1DM, CD is an independent risk factor for increased morbidity and mortality. Given the high prevalence of atypical symptoms and silent CD in those with T1DM, in this and other studies, and the benefits of detection and treatment of CD, screening is essential. Large-scale data collection allowing for the development of evidence-based guidelines is required.
Assuntos
Doença Celíaca/diagnóstico , Doença Celíaca/epidemiologia , Diabetes Mellitus Tipo 1/epidemiologia , Guias de Prática Clínica como Assunto , Adolescente , Doenças Assintomáticas/epidemiologia , Biópsia , Doença Celíaca/patologia , Criança , Proteínas de Ligação ao GTP/imunologia , Humanos , Imunoglobulina A/sangue , Programas de Rastreamento , Prevalência , Proteína 2 Glutamina gama-Glutamiltransferase , Estudos Retrospectivos , Fatores de Risco , Transglutaminases/imunologiaRESUMO
Neuronal intranuclear (hyaline) inclusion disease (NIID) is a rare neurodegenerative disorder with a variable clinical presentation and multiple subtypes. We present the clinicopathologic details of a patient with juvenile-onset NIID and discuss the pathogenesis. We also discuss the utility of antemortem skin biopsy which was negative in our case.
Assuntos
Encéfalo/patologia , Doenças Neurodegenerativas/patologia , Pele/patologia , Biópsia , Encéfalo/diagnóstico por imagem , Criança , Pré-Escolar , Evolução Fatal , Feminino , Humanos , Corpos de Inclusão Intranuclear/patologia , Imageamento por Ressonância Magnética , Doenças Neurodegenerativas/diagnóstico por imagemRESUMO
INTRODUCTION: Following detorsion and orchidopexy for testicular torsion, predominantly animal studies have reported a risk of autoimmune and reperfusion injury to the contralateral testis. As a result, when testicular viability is compromised, orchidectomy is readily performed. This practice increases the likelihood of testes with potentially reversible injury being excised. We aim to determine the incidence of such occurrences and review the available evidence for and against early orchidectomy when testicular viability is doubtful. MATERIALS AND METHODS: Data for a 15-year period from two pediatric institutions on testicular torsion in children younger than 16 years were reviewed. Using a previously published grading system, the orchidectomy specimens in this cohort with early low-grade injury were analyzed. Low-grade injury suggests the possibility of restitutio ad integrum implying restoration of exocrine and endocrine function of the affected testes. RESULTS: Between both institutions, 222 scrotal explorations were performed for testicular torsion; 20 neonatal and 202 outside the neonatal period (age range [median]: 1-28 days [3 days] and 3 months-16 years [13 years], respectively). Of these scrotal explorations, 17 neonatal and 66 nonneonatal orchidectomies were required (85 vs. 33%, respectively; p < 0.0001). From these orchidectomy specimens, 5 (6%) were found to have low-grade injury. The ages of these five children ranged from 9 to 16 years (median 15, mean 13.6 years). Their symptom duration ranged from 8 to 37 hours (median 14, mean 18 hours) and two of these children had a preoperative ultrasound documenting no flow to the testis. CONCLUSION: The finding of histopathological features that may represent salvageability of a torted testis occurs relatively rarely. Because of this possibility, appropriate intraoperative steps to check for reperfusion must be undertaken prior to orchidectomy. More evidence for the use of antioxidants and tunica albuginea decompression to improve testes salvage rates is required. The potential for exocrine and endocrine function if partial testicular atrophy occurs and the evidence for contralateral autoimmune testicular damage in pre- and postpubertal males require further investigation.
Assuntos
Orquiectomia , Traumatismo por Reperfusão/epidemiologia , Torção do Cordão Espermático/cirurgia , Adolescente , Criança , Pré-Escolar , Humanos , Incidência , Lactente , Recém-Nascido , Masculino , Traumatismo por Reperfusão/diagnóstico , Estudos Retrospectivos , Torção do Cordão Espermático/patologia , Resultado do TratamentoRESUMO
Symmetrical thalamic calcification or bilateral symmetrical thalamic gliosis presents at delivery with hypertonia, fixed flexion contractures and prominent bulbar signs, without preceding perinatal asphyxia. At post-mortem, there is evidence of bilateral symmetrical selective thalamic neuronal encrustation and gliosis. To date, 27 cases are published with no underlying diagnosis identified. Two affected children from singleton pregnancies were reported and therefore, a genetic cause proposed. No previous reports have performed genetic testing to confirm or reject this hypothesis. We report three additional cases of this rare condition, expanding the clinical and pathological phenotype. We performed trio whole exome sequencing, the first in this cohort of patients, and did not identify a pathogenic variant. As postulated in the original report, the likely underlying mechanism is antenatal hypoxia in the third trimester.
Assuntos
Encefalopatias/complicações , Encefalopatias/patologia , Calcinose/etiologia , Tálamo/patologia , Encefalopatias/diagnóstico por imagem , Encefalopatias/genética , Calcinose/diagnóstico por imagem , Calcinose/genética , Exoma/genética , Feminino , Testes Genéticos , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Tálamo/diagnóstico por imagemAssuntos
Cálcio/sangue , Hipercalcemia/etiologia , Sarcoidose/complicações , Biomarcadores/sangue , Biópsia , Criança , Humanos , Hipercalcemia/sangue , Hipercalcemia/diagnóstico , Hipercalcemia/terapia , Masculino , Valor Preditivo dos Testes , Prognóstico , Fatores de Risco , Sarcoidose/diagnóstico , Sarcoidose/terapiaRESUMO
Reactions to the Bacille Calmette-Guerin (BCG) vaccine are not uncommon and have been reported in association with immunodeficiency syndromes. We report a case of an infant developing a localized BCG reaction, confirmed histologically, associated with transient hypogammaglobulinemia of infancy. Conservative management of localized BCG reactions is appropriate in most cases.
Assuntos
Agamaglobulinemia/diagnóstico , Agamaglobulinemia/etiologia , Vacina BCG/efeitos adversos , Biópsia , Diagnóstico Diferencial , Humanos , Lactente , MasculinoAssuntos
Vesícula/diagnóstico , Penfigoide Bolhoso/tratamento farmacológico , Penfigoide Bolhoso/patologia , Betametasona/uso terapêutico , Biópsia por Agulha , Vesícula/tratamento farmacológico , Progressão da Doença , Quimioterapia Combinada , Eritromicina/uso terapêutico , Feminino , Técnica Direta de Fluorescência para Anticorpo , Seguimentos , Dermatoses do Pé/diagnóstico , Dermatoses do Pé/tratamento farmacológico , Ácido Fusídico/uso terapêutico , Dermatoses da Mão/diagnóstico , Dermatoses da Mão/tratamento farmacológico , Humanos , Imuno-Histoquímica , Lactente , Penfigoide Bolhoso/diagnóstico , Doenças Raras , Índice de Gravidade de Doença , Resultado do TratamentoRESUMO
OBJECTIVE: To examine the incidence of sudden unexplained death in children 1-4 years old (SUDC) in Ireland and to compare the epidemiological profile of SUDC with that of SIDS. DESIGN: All cases of sudden unexplained death in children <5 years in Ireland between 1994 and 2008 were reviewed. Epidemiological information obtained from parental questionnaires and post-mortem reports was examined, and data on cases ≥52 weeks compared with cases <52 weeks. RESULTS: SUDC accounted for 5% (n=44) of deaths in children aged 1-4 years during 1994-2008. During this period, the SIDS rate dropped from 0.71 to 0.34 per 1000 live births, while the SUDC rate increased from 0.08 to 0.18 deaths per 10 000 population aged 1-4 years. The median age of SUDC cases was 71.5 weeks, and the male/female ratio was 1.3:1. All died during a sleep period, 71% between 10pm and 8am, and more than two-thirds were found prone. Fewest cases occurred during July-September (11%), and a greater proportion occurred at weekends (55%). 52% (17/33) had symptoms (any) in the 48 h before death, and 35% (11/31) visited their general practitioner because of illness in the week preceding death. SUDC differed from SIDS in prevalence of maternal smoking (38% vs 72%, p<0.001), bed-sharing (17% vs 49%, p<0.001), and whether found prone (72% vs 23%, p<0.001). CONCLUSION: While SUDC shares some characteristics with SIDS, there are also some important differences. Further data collection will help determine whether SIDS and SUDC represent the same pathophysiological entity. Standardisation of protocols for investigating sudden deaths is urgently required for accurate diagnosis of cases.
Assuntos
Mortalidade da Criança/tendências , Morte Súbita/epidemiologia , Mortalidade Infantil/tendências , Pré-Escolar , Feminino , Humanos , Lactente , Irlanda/epidemiologia , Masculino , Decúbito Ventral , Fatores de Risco , Distribuição por Sexo , Fumar/epidemiologia , Morte Súbita do Lactente/epidemiologia , Fatores de TempoRESUMO
The relationship between dysplastic changes in the cervical epithelium and progression to in situ carcinoma and invasive carcinoma has been extensively studied. The removal of dysplastic epithelium through the long loop excision of the transformation zone (LLETZ) in 95% of the cases is curative. About 18% to 37% of LLETZ specimens with dysplasia at the margins have recurrent/residual disease. Earlier small studies suggest that the degree of dysplasia at the margins could predict for recurrence and allow a risk-based stratification of follow-up. We tested this hypothesis in a large group of women post-LLETZ for high-grade dysplasia with follow-up histology and cytology over a 12-year period. The cases were divided according to the excision margin status for dysplasia and if positive, low-grade or high-grade dysplasia. The groups were compared to assess whether the LLETZ specimens' margin status had an impact on the subsequent cytology or histology results. Positive follow-up results were defined as any grade of dysplasia in cytology or histology. Two thousand three hundred twenty-one women had LLETZs containing high-grade dysplasia over the 12-year period. One thousand five hundred thirty-four (66.1%) women had full histology and cytology follow-up available. Eight hundred twenty (53.4%) LLETZ specimens had positive margins and 714 (46.6%) had negative margins. The grade of dysplasia at the margins was available in 796 cases (97%) with 115 (15%) showing low-grade dysplasia and 680 (85%) high-grade dysplasia. One hundred seventy (20.7%) of the specimens with positive margins had positive follow-up results compared with 105 (14.7%) of the specimens with negative margins. The presence of dysplasia at an LLETZ margin is associated with dysplasia on follow-up cytology and histology (P=0.0021); however, the grade of dysplasia at the excision margin is not predictive of recurrent/residual dysplasia.
Assuntos
Patologia Cirúrgica/normas , Displasia do Colo do Útero/patologia , Displasia do Colo do Útero/cirurgia , Adolescente , Adulto , Idoso , Feminino , Seguimentos , Humanos , Pessoa de Meia-Idade , Adulto JovemRESUMO
We report a newborn who presented with acute abdominal distension secondary to gastric ischaemia with an associated undiagnosed coarctation of the descending aorta. This is the first description of such a previously unrecognised association, which is discussed further with reference to the current literature.
Assuntos
Coartação Aórtica/complicações , Isquemia/complicações , Estômago/irrigação sanguínea , Coartação Aórtica/diagnóstico , Coartação Aórtica/cirurgia , Ecocardiografia , Gastrectomia/métodos , Humanos , Recém-Nascido , Isquemia/diagnóstico , Isquemia/cirurgia , Masculino , Estômago/cirurgiaRESUMO
Myocarditis is a rare cause of sudden death in childhood. We describe the sudden death of a child from viral myocarditis, which we demonstrate was likely caused by an uncontrolled inflammatory response to a disseminated adenovirus serotype 3 infection originating in the tonsil.