Takayasu's arteritis: A rare cause of cardiac death in a Caucasian teenage female patient

A Caucasian teenage Dutch schoolgirl with known chronic low visual acuity and albinism, presented with frank acute pulmonary oedema, died after 1 h of cardio-pulmonary resuscitation for bradyarrhythmia and cardiac arrest. Two weeks prior to presentation, during sport training, she complained of oppressive chest pain on exertion accompanied with vomiting without any other systemic symptoms. Post-mortem examination revealed supravalvular stenosis of the pulmonary trunk and ascending aorta with irregular intimal thickening associated with stenosis of the left coronary artery. Microscopic examination demonstrated cellular infiltration of the wall of the aorta and pulmonary trun

Use of skin substitute dressings in the treatment of staphylococcal scalded skin syndrome in neonates and young infants

Background: Staphylococcal scalded skin syndrome (SSSS) is a rare toxin-mediated skin disease caused by Staphylococcus aureus and seen in infants and children younger than 5 years. Objectives: The supportive role of skin substitutes in SSSS is stressed as a new and relatively unknown method. Methods: Retrospective observational case-series study, in neonates and young infants diagnosed with SSSS. Results: Seven infants with SSSS, treatment with antibiotics, skin substitutes, strict pain relief strategy and prognosis were described. One of them was severely affected and deceased. Conclusion: This study describes 7 infants with SSSS and stresses the important role of skin substitutes as Omiderm® and Suprathel® as valuable adjuvant treatment modality. Copyrigh

Anterior joint capsule of the normal hip and in children with transient synovitis: US study with anatomic and histologic correlation

PURPOSE: To study the anatomic components of the anterior joint capsule of the normal hip and in children with transient synovitis. MATERIALS AND METHODS: Six cadaveric specimens were imaged with ultrasonography (US) with special attention to the anterior joint capsule. Subsequently, two specimens were analyzed histologically. These anatomic findings were correlated with the US findings in 58 healthy children and 105 children with unilateral transient synovitis. RESULTS: The anterior joint capsule comprises an anterior and posterior layer, mainly composed of fibrous tissue, lined by only a minute synovial membrane. Both fibrous layers were identified separately at US in 98 of 116 (84%) hips of healthy subjects and in all hips with transient synovitis. Overall, the anterior layer was thicker than the posterior layer. In transient synovitis compared with normal hips, no significant thickening of both layers was present (P = .24 and .57 for the anterior and posterior layers, respectively). Normal variants include plicae, local thickening of the capsule, and pseudodiverticula. CONCLUSION: Increased thickness of the anterior joint capsule in transient synovitis is caused entirely by effusion. There is no US evidence for additional capsule swelling or synovial hypertrophy

Endoanal MRI of the anal sphincter complex: correlation with cross-sectional anatomy and histology

The purpose of this study was to correlate the in vivo endoanal MRI findings of the anal sphincter with the cross-sectional anatomy and histology. Fourteen patients with rectal tumours were examined with a rigid endoanal MR coil before undergoing abdominoperineal resection. In addition, 12 cadavers were used to obtain cross-sectional anatomical sections. The images were correlated with the histology and anatomy of the resected rectal specimens as well as with the cross-sectional anatomical sections of the 12 cadavers. The findings in 8 patients, 11 rectal preparations, and 10 cadavers, could be compared. In these cases, there was an excellent correlation between endoanal MRI and the cross-sectional cadaver anatomy and histology. With endoanal MRI, all muscle layers of the anal canal wall, comprising the internal anal sphincter, longitudinal muscle, the external anal sphincter and the puborectalis muscle wer

Expression and prognostic value of Wilms' tumor 1 and early growth response 1 proteins in nephroblastoma

Wilms' tumor is one of the most common solid tumors of children. The protein product of the tumor-suppressor gene, Wilms' tumor 1 (WT-1), binds to the same DNA sequences as the protein product of the early growth response 1 (EGR-1) gene. There is experimental evidence that EGR-1 is involved in controlling cell growth. The expression of both genes in Wilms' tumor was studied by others, mainly at the mRNA level. The present study evaluates the prognostic value of WT-1 and EGR-1 in 61 Wilms' tumors of chemotherapeutically treated patients at the protein level, using an immunohistochemical approach. WT-1 was expressed in normal kidney tissues and in the blastemal and epithelial component of Wilms' tumor, whereas stromal tissue was negative. EGR-1 was expressed in normal kidney tissues and in the three main cell types of Wilms' tumor. In 59 and 56% of Wilms' tumor, the blastemal cells stained for WT-1 and EGR-1, respectively. The blastemal expression of WT-1 and EGR-1 and the epithelial expression of WT-1 were statistically significantly correlated with clinical stage. WT-1 immunoreactivity correlated with EGR-1 expression. Univariate analysis showe

Ontogeny of iodothyronine deiodinases in human liver

The role of the deiodinases D1, D2, and D3 in the tissue-specific and time-dependent regulation of thyroid hormone bioactivity during fetal development has been investigated in animals but little is known about the ontogeny of these enzymes in humans. We analyzed D1, D2, and D3 activities in liver microsomes from 10 fetuses of 15-20 weeks gestation and from 8 apparently

Autoimmune lymphoproliferative syndrome (ALPS) in a child from consanguineous parents: a dominant or recessive disease?

Autoimmune lymphoproliferative syndrome (ALPS) is characterized by autoimmune features and lymphoproliferations and is generally caused by defective Fas-mediated apoptosis. This report describes a child with clinical features of ALPS without detectable Fas expression on freshly isolated blood leukocytes. Detection of FAS transcripts via real-time quantitative PCR made a severe transcriptional defect unlikely. Sequencing of the FAS gene revealed a 20-nucleotide duplication in the last exon affecting the cytoplasmic signaling domain. The patient was homozygous for this mutation, whereas the consanguineous parents and the siblings were heterozygous. The patient reported here is a human homologue of the Fas-null mouse, inasmuch as she carries an autosomal homozygous mutation in the FAS gene and she shows the severe and accelerated ALPS phenotype. The heterozygous family members did not have the ALPS phenotype, indicating that the disease-causing FAS mutation in this family is autosomal recessive

Has the Rate of CD4 Cell Count Decline before Initiation of Antiretroviral Therapy Changed over the Course of the Dutch HIV Epidemic among MSM?

Introduction:Studies suggest that the HIV-1 epidemic in the Netherlands may have become more virulent, leading to faster disease progression if untreated. Analysis of CD4 cell count decline before antiretroviral therapy (ART) initiation, a surrogate marker for disease progression, may be hampered by informative censoring as ART initiation is more likely with a steeper CD4 cell count decline.Methods:Development of CD4 cell count from 9 to 48 months after seroconversion was analyzed using a mixed-effects model and 2 models that jointly modeled CD4 cell counts and time to censoring event (start ART

COL4A2 mutation associated with familial porencephaly and small-vessel disease

Familial porencephaly, leukoencephalopathy and small-vessel disease belong to the spectrum of disorders ascribed to dominant mutations in the gene encoding for type IV collagen alpha-1 (COL4A1). Mice harbouring mutations in either Col4a1 or Col4a2 suffer from porencephaly, hydrocephalus, cerebral and ocular bleeding and developmental defects. We observed porencephaly and white matter lesions in members from two families that lack COL4A1 mutations. We hypothesized that COL4A2 mutations confer genetic predisposition to porencephaly, therefore we sequenced COL4A2 in the family members and characterized clinical, neuroradiological and biochemical phenotypes. Genomic sequencing of COL4A2 identified the heterozygous missense G1389R in exon 44 in one family and the c.3206delC change in exon 34 leading to frame shift and premature stop, in the second family. Fragmentation and duplication of epidermal basement membranes were observed by electron microscopy in a c.3206delC patient skin biopsy, consistent with abnormal collagen IV