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We report on two Dutch sibs with external anomalies compatible with Bartsocas–Papas syndrome, who also had internal anomalies: bilateral renal agenesis in one, and esophageal atresia, hypoplastic diaphragma, unilateral renal agenesis, agenesis of the shaft of the penis, and anal atresia in the other patient. Several possible patterns for the pathogenesis of this combination of anomalies are discussed. We propose a generalized epithelial defect, affecting both epidermis and other lining epithelia, as the most probable cause in the present patients. © 1994 Wiley-Liss, Inc.

2 boys had unilateral Perthes' disease at the age of 5 years. After 6 and 7 years, respectively, both patients developed contralateral femoral head necrosis with rapid destruction leading to ankylosis of the hip. Histology of the synovium showed nonspecific synovitis. Both patients fulfilled criteria for oligo-articular juvenile chronic arthritis (JCA). The association with Perthes' disease suggests a common etiology.

In 153 patients with biopsy-proven primary systemic amyloidosis (AL), serum creatinine level correlated with median survival (creatinine less than or equal to 115 mumol/L [1.3 mg/dL], 2.56 months; creatinine greater than 115 mumol/L [1.3 mg/dL], 14.9 months; P = 0.007). The 24-hour urine total protein excretion was not correlated with survival. Patients who excreted monoclonal lambda light chains in the urine had an inferior survival (12 months) compared with those with kappa (30 months) or no monoclonal protein (35 months) in the urine (P = 0.01). The presence of lambda monoclonal protein was not associated with a higher median creatinine level. A monoclonal protein was detected in the urine in 76% of patients; when patients with more than 1 g of protein in the urine were studied, however, a monoclonal protein was detectable in 86%. The overall kappa-lambda ratio was 1:2.56, but as the urinary protein loss increased, the kappa-lambda ratio shifted to 1:4.7 for those with more than 3 g of protein in the urine.

Background: Infant mortality of ethnic minorities in The Netherlands (10% of the population) is twice as high as in the indigenous Dutch population. Causes of death are different for the diverse migrant groups. Methods: Hospital records of nearly 600 infants who died in the four major cities between 1995 and 1998 were analysed according to the cause of death, ethnicity, and possible hereditarity. Results: There was a four to five times higher proportion of hereditary causes of death in the Moroccan and Turkish population, compared with the Surinamese/Antillians and indigenous Dutch. Conclusions: This might be explained by a high inbreeding coefficient as three-quarters of the marriage partners are recruited from the home villages and between a quarter and a third of these marriages are between first cousins. Health promotion activities in The Netherlands have not been successful so far. Preconception genetic counselling might help in reducing these differences.

A 5-year-old boy known to have tuberous sclerosis was admitted with an abdominal aortic aneurysm. The aneurysm was resected and replaced by a bifurcation prosthesis. Follow-up, which amounts up to 4 years, has been uneventful. Prompt recognition and surgical treatment are essential in the management of this rare but potentially lethal condition.

A case of fetal loss due to infection after first-trimester chorionic villus sampling is described. The fetus was born at 18 3/7 weeks and showed an annular constriction of one of the arms as seen in the amniotic band sequence. Induction of congenital defects might be one of the complications of chorionic villus sampling.

Thymic biopsies from two patients with combined immunodeficiency and defective expression of HLA class I and class II antigens on blood mononuclear cells (“bare lymphocyte” syndrome) were investigated. This made possible an evaluation of the significance of HLA antigen expression in a detailed (immuno)histologic study. Both thymuses showed a normal lobular architecture with distinct cortex-medulla areas, well-differentiated epithelium, including ultrastructurally defined subtypes, and Hassall's corpuscles. Normal numbers of lymphoid cells were present and normal T-cell phenotype was found. Using anti-HLA-A,B,C antisera, confluent staining of the medulla (stroma and lymphocytes) was observed. One of the thymuses was found to be negative for HLA class II antigen expression: the other revealed only HLA-DR positivity of nonlymphoid cells in the medulla. These cells were not of epithelial nature as judged from double staining with anti-keratin antibody. There was no expression of HLA-DC/DS. These observations differ from findings in the normal thymus, wherein epithelial cells in the cortex carry HLA class I and class II antigens, and epithelial cells in the medulla express HLA class I, and for a minor part class II antigens. The results indicate a normal sequential acquisition of T-cell differentiation antigens in the thymus of both cases. It is suggested that the expression of HLA class I and class II antigens on epithelial cells in the normal thymus cortex does not play a significant role in the sequential acquisition of differentiation antigens on T lymphocytes.

To evaluate the relationship between histologic parameters and clinical data, we studied thymus histology in 234 fetuses and young children who died after a short period of acute illness. Thymus weight and volume percentages of interstitium, cortex, and medulla were significantly related to prenatal or postnatal status and age of the patient. Thymus weight was related to the duration of acute illness only in prenatal patients. The histology, categorized in five grades according to appearance of macrophages (with a starry-sky aspect) in the cortex, increase of inter-lobular interstitium, and lymphodepletion of the cortex, correlated significantly with the duration of acute illness and not with any other clinical parameter. This finding enables the pathologist to estimate the duration of acute disease before death.

In patients with various forms of combined immunodeficiency or T lymphocyte deficiency, the histology of the thymus is generally abnormal. During the last years patients with combined immunodeficiency associated with defective expression of HLA of class I and in some cases also of class II on blood mononuclear cells (so-called “bare lymphocyte” syndrome) have been described. We were able to study thymus biopsies from two of these cases .1–3 This study included histopathology on formalin-fixed, paraffin-embedded tissue, electron microscopy,4,5 immunohistochemistry on frozen tissue sections with monoclonal antibodies to T lymphocyte subpopulations, monoclonal antibodies to HLA and antisera to thymosin components,6 as well as cell surface marker tests on thymocytes in suspension and in vitro culture of epithelial cells.7

• Cultured thymic fragments were implanted in one patient with acquired immunodeficiency syndrome (AIDS)-related complex (ARC) and in eight AIDS patients with opportunistic infections (Ols, four patients), Kaposi’s sarcoma (KS, two patients), or both (two patients). Thereafter, objective clinical improvement was noted in one patient with 01, and a stable symptom-free condition was observed in the ARC patient and in two other patients with Ols. However, the ARC patient and two of the three patients with Ols developed infections three to six months after implantation. A fourth case of 01 and the patients with KS showed progression of the disease. Peripheral blood investigations for counts of total leukocytes, lymphocytes, and T-lymphocyte subsets as well as for lymphocyte stimulation with mitogens showed no changes interpretable as an improvement of the cellular immune deficiency status. We conclude that cultured thymic fragments have no distinct in vivo effect on the course of AIDS, except for a temporary clinical improvement or a period of stable condition in some patients with Ols.