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1.
JBJS Case Connect ; 13(3)2023 07 01.
Artigo em Inglês | MEDLINE | ID: mdl-37478321

RESUMO

CASE: Synovial chondromatosis is a rare condition affecting synovial joints. It occurs uncommonly in the shoulder and is rare in the pediatric population. We present a case of a 13-year-old male patient with shoulder pain who was diagnosed with synovial chondromatosis and a posterior labral tear. He was treated with arthroscopic loose body removal, synovectomy, and posterior labral repair and recovered well from the surgery. Four years after the surgery, he developed pain in the same shoulder, but the cause of the pain was not investigated per the patient's decision. CONCLUSION: Synovial chondromatosis should be considered in pediatric patients presenting with shoulder pain and loss of function with potential for recurrence.


Assuntos
Condromatose Sinovial , Articulação do Ombro , Adolescente , Humanos , Masculino , Artroscopia , Condromatose Sinovial/complicações , Condromatose Sinovial/diagnóstico por imagem , Condromatose Sinovial/cirurgia , Ombro , Articulação do Ombro/cirurgia , Dor de Ombro/etiologia , Dor de Ombro/cirurgia
2.
Pediatr Pulmonol ; 57(1): 264-272, 2022 01.
Artigo em Inglês | MEDLINE | ID: mdl-34585851

RESUMO

INTRODUCTION: Rubinstein-Taybi syndrome (RSTS) is a rare genetic syndrome caused primarily by a mutation in the CREBBP gene found on chromosome 16. Patients with RSTS are at greater risk for a variety of medical problems, including upper airway obstruction and aspiration. Childhood interstitial lung disease (ILD) thus far has not been definitively linked to RSTS. Here we present three patients with RSTS who developed ILD and discuss possible mechanisms by which a mutation in CREBBP may be involved in the development of ILD. METHODS: Routine hematoxylin and eosin staining was performed on lung biopsy tissue for histological analysis. Immunofluorescent staining was performed on lung biopsy tissue for markers of fibrosis, surfactant deficiency and histone acetylation. Cases 1 and 2 had standard clinical microarray analysis. Case 3 had whole exome sequencing. Bioinformatics analyses were performed to identify possible causative genes using ToppGene. RESULTS: Computed tomography images in all cases showed consolidated densities overlying ground glass opacities. Lung histopathology revealed accumulation of proteinaceous material within alveolar spaces, evidence of fibrosis, and increased alveolar macrophages. Immunofluorescent staining showed increase in surfactant protein C staining, patchy areas of increased anti-smooth muscle antibody staining, and increased staining for acetylated histone 2 and histone 3 lysine 9. DISCUSSION: Clinical characteristics, radiographic imaging, lung histopathology, and immunofluorescent staining results shared by all cases demonstrated findings consistent with ILD. Immunofluorescent staining suggests two possible mechanisms for the development of ILD: abnormal surfactant metabolism and/or persistent activation of myofibroblasts. These two pathways could be related to dysfunctional CREBBP protein.


Assuntos
Doenças Pulmonares Intersticiais , Síndrome de Rubinstein-Taybi , Proteína de Ligação a CREB/genética , Criança , Humanos , Doenças Pulmonares Intersticiais/etiologia , Doenças Pulmonares Intersticiais/genética , Mutação , Síndrome de Rubinstein-Taybi/complicações , Síndrome de Rubinstein-Taybi/diagnóstico , Síndrome de Rubinstein-Taybi/genética , Sequenciamento do Exoma
3.
Am J Transplant ; 21(12): 4032-4042, 2021 12.
Artigo em Inglês | MEDLINE | ID: mdl-34403563

RESUMO

COVID-19 has been associated with acute kidney injury and published reports of native kidney biopsies have reported diverse pathologies. Case series directed specifically to kidney allograft biopsy findings in the setting of COVID-19 are lacking. We evaluated 18 kidney transplant recipients who were infected with SARS-CoV-2 and underwent allograft biopsy. Patients had a median age of 55 years, six were female, and five were Black. Fifteen patients developed COVID-19 pneumonia, of which five required mechanical ventilation. Notably, five of 11 (45%) biopsies obtained within 1 month of positive SARS-CoV-2 PCR showed acute rejection (four with arteritis, three of which were not associated with reduced immunosuppression). The remaining six biopsies revealed podocytopathy (n = 2, collapsing glomerulopathy and lupus podocytopathy), acute tubular injury (n = 2), infarction (n = 1), and transplant glomerulopathy (n = 1). Biopsies performed >1 month after positive SARS-CoV-2 PCR revealed collapsing glomerulopathy (n = 1), acute tubular injury (n = 1), and nonspecific histologic findings (n = 5). No direct viral infection of the kidney allograft was detected by immunohistochemistry, in situ hybridization, or electron microscopy. On follow-up, two patients died and most patients showed persistent allograft dysfunction. In conclusion, we demonstrate diverse causes of kidney allograft dysfunction after COVID-19, the most common being acute rejection with arteritis.


Assuntos
Injúria Renal Aguda , COVID-19 , Aloenxertos , Biópsia , Feminino , Rejeição de Enxerto/etiologia , Humanos , Rim , Pessoa de Meia-Idade , SARS-CoV-2
4.
World J Pediatr Congenit Heart Surg ; 12(5): 675-677, 2021 09.
Artigo em Inglês | MEDLINE | ID: mdl-33956540

RESUMO

A 33-week gestation, 1.75-kg female infant with mitral stenosis/aortic atresia variant of hypoplastic left heart syndrome and severe ventriculo-coronary connections underwent surgical septectomy and bilateral pulmonary artery banding at five weeks of age (2.10 kg). After separation from bypass, she developed hemodynamic instability requiring venoarterial extracorporeal membrane oxygenation support. She was listed for heart transplantation and transplanted after three days of support with an oversized heart (4.7:1 donor-recipient weight ratio).


Assuntos
Transplante de Coração , Síndrome do Coração Esquerdo Hipoplásico , Estenose da Valva Mitral , Feminino , Humanos , Lactente , Recém-Nascido , Recém-Nascido Prematuro , Estudos Retrospectivos , Resultado do Tratamento
5.
Artigo em Inglês | MEDLINE | ID: mdl-33883208

RESUMO

Visceral myopathies (VMs) encompass a spectrum of disorders characterized by chronic disruption of gastrointestinal function, with or without urinary system involvement. Pathogenic missense variation in smooth muscle γ-actin gene (ACTG2) is associated with autosomal dominant VM. Whole-genome sequencing of an infant presenting with chronic intestinal pseudo-obstruction revealed a homozygous 187 bp (c.589_613 + 163del188) deletion spanning the exon 6-intron 6 boundary within ACTG2 The patient's clinical course was marked by prolonged hospitalizations, multiple surgeries, and intermittent total parenteral nutrition dependence. This case supports the emerging understanding of allelic heterogeneity in ACTG2-related VM, in which both biallelic and monoallelic variants in ACTG2 are associated with gastrointestinal dysfunction of similar severity and overlapped clinical presentation. Moreover, it illustrates the clinical utility of rapid whole-genome sequencing, which can comprehensively and precisely detect different types of genomic variants including small deletions, leading to guidance of clinical care decisions.


Assuntos
Actinas/genética , Genótipo , Pseudo-Obstrução Intestinal/diagnóstico , Pseudo-Obstrução Intestinal/genética , Humanos , Íleus , Lactente , Pseudo-Obstrução Intestinal/patologia , Masculino , Linhagem , Resultado do Tratamento , Sequenciamento Completo do Genoma
9.
J Clin Immunol ; 33(1): 162-71, 2013 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-22926405

RESUMO

PURPOSE: Acute Hemorrhagic Leukoencephalitis (AHLE) is a rare demyelinating disorder of acute onset, rapid deterioration and significant morbidity and mortality. Most often described as a post-infectious complication of an upper respiratory illness, its precise pathophysiology remains unclear. We describe two pediatric patients with AHLE with partial complement factor I (FI) deficiency whose successful treatment included the interleukin-1 (IL-1) receptor antagonist, anakinra, implicating a role for FI and IL-1 in this disorder. METHODS: Extensive clinical workup of two patients presenting with AHLE revealed complement abnormalities, specifically related to the alternative pathway and its regulator, FI. Aggressive management with steroids, immunoglobulin, and anakinra ultimately led to improvement of clinical status and near return to neurologic baseline in both patients. Genetic sequencing of the FI coding regions of the patients and their families was performed. In vitro protein expression studies and immunohistochemistry of fixed brain tissue was used to investigate pathogenic mechanisms. RESULTS: Two novel mutations in FI were identified in our patients, which result in failure to secrete FI. Immunohistochemical evaluation of brain tissue demonstrated positive staining for C3, membrane attack complex (MAC) and IL-1. CONCLUSIONS: We propose AHLE is an unreported, rare phenotype for partial FI deficiency. The upregulation of C3, MAC and IL-1 with subsequent demyelination support a pathologic role for complement activation in AHLE, and suggest anakinra as an important adjunctive therapy in this disease.


Assuntos
Fator I do Complemento/genética , Leucoencefalite Hemorrágica Aguda/genética , Leucoencefalite Hemorrágica Aguda/imunologia , Mutação de Sentido Incorreto/imunologia , Neurônios/imunologia , Neurônios/patologia , Adolescente , Adulto , Criança , Ativação do Complemento/genética , Ativação do Complemento/imunologia , Complemento C3/fisiologia , Fator I do Complemento/deficiência , Fator I do Complemento/metabolismo , Complexo de Ataque à Membrana do Sistema Complemento/fisiologia , Feminino , Células HEK293 , Humanos , Imunofenotipagem , Inflamação/genética , Inflamação/imunologia , Inflamação/patologia , Interleucina-1/fisiologia , Leucoencefalite Hemorrágica Aguda/patologia , Masculino , Neurônios/metabolismo , Linhagem
11.
J Pediatr Surg ; 47(3): 581-4, 2012 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-22424357

RESUMO

We present an unusual case of total colonic aganglionosis with well-documented skip lesions and discuss our staged approach for diagnosis and surgical management. To date, there have been few reported cases of total colonic aganglionosis with skip areas. This type of presentation challenges the accepted theory regarding the etiology of colonic aganglionosis. Although skip lesions in Hirschsprung disease are extremely rare, their existence must be appreciated especially when a patient's clinical and pathologic findings do not support classic Hirschsprung disease. If not considered, additional areas of aganglionosis can be missed at initial presentation, leading to a delay in definitive treatment. This case illustrates how careful mapping of bowel via multiple biopsies can identify and thereby preserve intervening segments of bowel with normal ganglions cells to yield the maximal amount of bowel possible.


Assuntos
Doença de Hirschsprung/diagnóstico , Colectomia , Colostomia , Doença de Hirschsprung/cirurgia , Humanos , Lactente , Masculino
13.
Pediatr Dev Pathol ; 13(3): 225-37, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-19642834

RESUMO

We describe the clinicopathologic features of 15 patients who had histiocytic lesions that followed acute lymphoblastic leukemia (ALL). Twenty-one separate histiocytic lesions were evaluated that covered a wide spectrum, some conforming to the usual categories of juvenile xanthogranulomas (5), Langerhans' cell histiocytosis (1), Langerhans' cell sarcoma (4), Rosai-Dorfman disease (1), and histiocytic sarcoma (4). Most were atypical for the category by histology, phenotype, or abnormally high turnover rate. Seven low-grade lesions defied easy categorization and were characterized only as "atypical histiocytic lesion" following ALL. For those evaluated, the molecular signature of the prior leukemia was present in the histiocytic lesion. In 3 of 15 patients, the leukemia and histiocytic lesion shared immunoglobulin H or monoclonal TCR gene rearrangements and, in 4 of 15 patients, clonal identity was documented by fluorescence in situ hybridization. Four patients died of progressive disease, 3 of whom had histiocytic sarcoma and 1 who had an atypical lesion. One patient died of recurrent ALL. The other 10 patients are alive, 7 after recurrences and treatment with surgery and/or chemotherapy. The post-ALL lesions are more aggressive than their native counterparts, but despite the demonstration of the presence of the leukemia signature in 7 of 15 patients, the prognosis is generally favorable, except for patients with histiocytic sarcoma. It remains unclear whether the histiocytic lesions arise as a line from the original ALL or whether transdifferentiation is involved.


Assuntos
Histiócitos/patologia , Histiocitose/patologia , Neoplasias Primárias Múltiplas/patologia , Leucemia-Linfoma Linfoblástico de Células Precursoras/patologia , Adolescente , Idoso , Criança , Pré-Escolar , Terapia Combinada , Feminino , Rearranjo Gênico do Linfócito B/genética , Rearranjo Gênico da Cadeia beta dos Receptores de Antígenos dos Linfócitos T/genética , Histiócitos/imunologia , Histiocitose/genética , Histiocitose/mortalidade , Histiocitose/terapia , Humanos , Cadeias Pesadas de Imunoglobulinas/genética , Hibridização in Situ Fluorescente , Masculino , Neoplasias Primárias Múltiplas/mortalidade , Neoplasias Primárias Múltiplas/terapia , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/mortalidade , Leucemia-Linfoma Linfoblástico de Células Precursoras/terapia , Prognóstico , Taxa de Sobrevida , Resultado do Tratamento
16.
Pediatr Dev Pathol ; 8(1): 26-33, 2005.
Artigo em Inglês | MEDLINE | ID: mdl-15702367

RESUMO

At least 25 families with camptodactyly-arthropathy-coxa vara-pericarditis (CACP syndrome) have been reported, with descriptions of a distinctive synovial pathology based largely on light microscopy. Although described as "proliferative," with numerous multinucleated giant cells, the natures of proliferating cells and giant cells have not been determined. To clarify the pathogenesis of this disorder, we studied 3 patients who had CACP syndrome and underwent synovial biopsy. Cells in the biopsies were studied by immunohistochemistry and electron microscopy. Giant cells were identified as macrophage in origin based on CD68 expression and electron microscopic features of macrophages. Most cells in the synovium were CD68 positive, in keeping with macrophages. The degree of proliferation in synovial biopsies was estimated by MIB1 immunostaining, which showed that up to 30% of cells were cycling compared with fewer than 10% in control synovial biopsies. None of the giant cells was cycling. By double immunostaining, proliferating cells were determined to be fibroblastic synoviocytes rather than macrophages. Thus the proliferative synovitis in this CACP syndrome can be more accurately thought of as hypercellularity by infiltrating macrophages with a contribution by proliferating fibroblastic synoviocytes. The synoviocyte proliferation is likely a response to the underlying genetic mutations involving the proteoglycan-4 (or CACP) gene. The encoded protein normally acts as a lubricant and possibly controls cell proliferation. Loss of one or another of these functions may be a possible mechanism that leads to synoviocyte proliferation in this disease, but the exact pathophysiology leading to this change requires further study.


Assuntos
Artrite Juvenil/patologia , Articulações dos Dedos/anormalidades , Articulação do Quadril/anormalidades , Pericardite/patologia , Membrana Sinovial/patologia , Antígenos CD/metabolismo , Antígenos de Diferenciação Mielomonocítica/metabolismo , Artrite Juvenil/genética , Artrite Juvenil/metabolismo , Biomarcadores/metabolismo , Proliferação de Células , Pré-Escolar , Fibroblastos/metabolismo , Fibroblastos/patologia , Células Gigantes/metabolismo , Células Gigantes/patologia , Humanos , Lactente , Antígeno Ki-67/metabolismo , Pericardite/genética , Pericardite/metabolismo , Síndrome , Membrana Sinovial/metabolismo , Membrana Sinovial/ultraestrutura
17.
J Pediatr Surg ; 39(9): 1345-8, 2004 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-15359388

RESUMO

BACKGROUND: The use of a 1-stage pull-through for Hirschsprung's disease (HD) is dependent on accurate identification of the normally innervated bowel on intraoperative frozen sections (IOFS). The authors wished to determine the incidence and sources of error during this process. METHODS: All HD patients undergoing IOFS over a 15-year period were reviewed. RESULTS: Three hundred four patients underwent a total of 700 IOFS. In 9 cases (3%), there was discrepancy between IOFS and permanent sections. Two of these were false-positive (ganglion cells incorrectly believed to be present at IOFS); both required a second operation as a result of the error. Seven were false-negative (presence of ganglion cells not recognized at IOFS); none required a subsequent operation, but 2 had a significantly more extensive colonic resection than was necessary. Responsible factors included sampling from the transition zone, freezing artifact, and misinterpretation of ganglion cells in very young patients owing to pathologist inexperience. There was significant variability in the error rate among the 11 pathologists. However, the numbers were too small for statistical analysis to determine whether there was a correlation between the rate of errors and the volume of cases done or years of experience. CONCLUSIONS: Error in reading of IOFS is rare but can have significant repercussions in patient care. Multiple factors, including technical issues and pathologist experience, may have a role in contributing to these errors.


Assuntos
Colo/inervação , Erros de Diagnóstico , Secções Congeladas , Doença de Hirschsprung/cirurgia , Adolescente , Apendicectomia , Criança , Pré-Escolar , Colo/patologia , Colostomia , Fatores de Confusão Epidemiológicos , Reações Falso-Negativas , Reações Falso-Positivas , Feminino , Doença de Hirschsprung/patologia , Humanos , Ileostomia , Íleo/inervação , Íleo/patologia , Lactente , Recém-Nascido , Jejuno/inervação , Jejuno/patologia , Masculino , Variações Dependentes do Observador , Reoperação/estatística & dados numéricos , Estudos Retrospectivos , Resultado do Tratamento
18.
Gastroenterology ; 126(2): 576-85, 2004 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-14762794

RESUMO

Heterozygous germline DNA mismatch repair gene mutations are typically associated with hereditary nonpolyposis colorectal cancer. The molecular hallmark of this syndrome is high-frequency microsatellite instability in the tumors. Rare childhood cases with homozygous or compound heterozygous DNA mismatch repair gene mutations have a described predisposition to leukemia, lymphoma, and brain tumors but not to gastrointestinal cancer. We have now characterized a family in which 2 children with a homozygous germline DNA mismatch repair gene mutation developed early-onset gastrointestinal cancers. The 11-year-old proband had café-au-lait macules and developed metastatic duodenal adenocarcinoma that arose in a tubulovillous adenoma. His 9-year-old sister with café-au-lait macules and axillary freckling presented with malignant colon polyps. A 6-year-old sister with café-au-lait macules, hairy nevi, and a plexiform neurofibroma of the tongue has no malignancies to date. The family history did not fulfill the Amsterdam criteria for hereditary nonpolyposis colorectal cancer, but 2 relatives in their 60s had gastric cancer and colorectal cancer, whereas the parents, who are first cousins, remain cancer free. The proband's metastatic duodenal cancer and his sister's malignant colon polyps had high-frequency microsatellite instability but had detectable MLH1, MSH2, and MSH6 proteins by immunohistochemistry. Because some germline DNA mismatch repair gene deficiencies are associated with apparently intact immunohistochemical DNA mismatch repair gene expression in tumors, we proceeded to DNA sequencing, which showed that all 3 children had a germline homozygous MLH1 missense mutation (exon 18, codon 687, CGG-->TGG), whereas both parents were heterozygous for this mutation.


Assuntos
Neoplasias Gastrointestinais/genética , Mutação em Linhagem Germinativa , Homozigoto , Proteínas de Neoplasias/genética , Neurofibromatose 1/genética , Proteínas Adaptadoras de Transdução de Sinal , Proteínas de Transporte , Criança , Feminino , Neoplasias Gastrointestinais/patologia , Mutação em Linhagem Germinativa/genética , Humanos , Masculino , Repetições de Microssatélites/genética , Proteína 1 Homóloga a MutL , Mutação de Sentido Incorreto , Neurofibromatose 1/patologia , Proteínas Nucleares , Linhagem
19.
Arch Pathol Lab Med ; 127(12): 1615-8, 2003 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-14632566

RESUMO

We report 2 cases of adenovirus enterocolitis in pediatric patients who underwent bone marrow transplantation. The first case involved a 17-year-old adolescent boy with combined immunodeficiency and non-Hodgkin lymphoma who developed chronic graft versus host disease and persistent adenovirus duodenitis. Case 2 involved a 3-year-old boy who received a mismatched unrelated bone marrow transplant for metachromatic leukodystrophy; the boy developed severe graft versus host disease and died of multiorgan failure. At autopsy, diffuse hemorrhagic enterocolitis with changes of severe graft versus host disease and extensive mucosal invasion by adenovirus was found. Awareness and early recognition of this uncommon complication of concomitant graft versus host disease and adenovirus infection could impact therapy and outcome of patients with bone marrow transplant.


Assuntos
Infecções por Adenoviridae/patologia , Transplante de Medula Óssea/efeitos adversos , Enterocolite/patologia , Infecções por Adenoviridae/etiologia , Adolescente , Pré-Escolar , Enterocolite/virologia , Doença Enxerto-Hospedeiro/complicações , Humanos , Masculino
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