Changes in alpha-fetoprotein levels in a case with multiple congenital anomalies.

A chromosomally normal women, who previously lost an infant with meningomyelocele and hydrocephalus, with a chromosomally normal husband, had normal alpha fetoprotein (AFP) levels in both amniotic fluid and maternal serum at about 19 weeks gestation. At 34 weeks, suspected hydramnios was confirmed clinically and radiographically; the latter showed no evidence of hydrocephalus. AFP levels at 36 weeks showed 224 ng/ml in maternal serum and 1249 ng/ml in amniotic fluid. Maternal serum rose from the 25th-19th percentile, and amniotic level was 5-fold greater than normal (200 ng/ml). At 39 weeks, abnormal AFP values of 258 and 1500 ng/ml for maternal serum and amniotic fluid, respectively, were measured. Though AFP patterns did not suggest an open neural tube defect (higher 19-week values were expected), spontaneous labor at 39 weeks resulted in a 1930-gm female with multiple congenital abnormalities. These AFP assays suggest: 1) that signaling of abnormalites other than neural tube defects is a valid use of AFP assays; 2) that the slope rather than single point values should be used in interpreting AFP results; 3) that assays in both amniotic fluid and maternal serum should be obtained and interpreted simultaneously in screening for birth defects; and 4) that sequential assays should be performed even in the presence of initially normal findings.     

Pseudoaneurysm: a complication of faulty technique in femoral arterial puncture

Pseudoaneurysm is a well-documented but rare complication of retrograde femoral arterial puncture. We present six patients in whom pseudoaneurysm complicated this procedure. The pseudoaneurysm arose from the superficial femoral artery in five patients and from the profunda femoris artery in one. An arteriovenous fistula also arose from the superficial femoral artery in one patient. In no patient did the pseudoaneurysm arise from the common femoral artery. Two mechanisms are postulated as to why pseudoaneurysms rarely complicate puncture of the common femoral artery.     

Interobserver agreement on ultrasound measurements of residual vein diameter, thrombus echogenicity and Doppler venous flow in patients with previous venous thrombosis

INTRODUCTION: In patients with new symptoms in a leg previously affected by deep vein thrombosis (DVT), the presence of thrombus on ultrasound cannot be assumed to be due to recurrent thrombosis. Several parameters have been suggested to differentiate between acute and chronic thrombus on ultrasound, including measurement of residual vein diameter during compression, thrombus echogenicity and Doppler assessment of venous flow, but studies on the reproducibility of these measurements are sparse. OBJECTIVE: To determine interobserver agreement on measurement of residual vein diameter, thrombus echogenicity and Doppler venous flow in patients with residual thrombus in the veins of the lower limb. MATERIALS AND METHODS: Patients with previous proximal DVT who had a high likelihood of residual thrombosis, but without symptoms of recurrent DVT, had ultrasound examinations independently performed by two examiners on the same day. Interobserver agreement on measurement of residual vein diameter, thrombus echogenicity and Doppler venous flow was evaluated. RESULTS: We determined that interobserver agreement on these measurements was moderate. The mean difference between paired measurements of residual vein diameter was 2.2 mm (95th centile, 8.0 mm). When both examiners agreed residual thrombus was present, 54% of the variance of the measurement of residual vein diameter was accounted for by the paired measurements. The weighted kappa coefficient for thrombus echogenicity was 0.01 and for Doppler venous flow was 0.51. CONCLUSIONS: The error associated with ultrasound measurements of residual vein diameter, thrombus echogenicity and flow appears to be considerable.     

Heparin-induced thrombocytopenia: real-world issues

Heparin-induced thrombocytopenia (HIT) is a prothrombotic drug reaction caused by platelet-activating antibodies. HIT sera often activate platelets without needing heparin-such heparin-"independent" platelet activation can be associated with HIT beginning or worsening despite stopping heparin ("delayed-onset HIT"). We address important issues in HIT diagnosis and therapy, using a recent cohort of HIT patients to illustrate influences of heparin type; triggers for HIT investigation; serological features of heparin-independent platelet activation; and treatment. In our cohort of recent HIT cases ( N?=?13), low-molecular-weight heparin (dalteparin) was a common causative agent ( N?=?8, 62%); most patients were diagnosed after HIT-thrombosis had occurred; and danaparoid was the most frequently selected treatment. Heparin-independent platelet activation was common (7/13 [54%]) and predicted slower platelet count recovery (>1 week) among evaluable patients (5/5 vs 1/6; P?=?0.015). In our experience with argatroban-treated patients, HIT-associated consumptive coagulopathy confounds anticoagulant monitoring. Our observations provide guidance on practical aspects of HIT diagnosis and management.     

Acid phosphatase activity in mononuclear phagocytes and the U937 cell line: monocyte-derived macrophages express tartrate-resistant acid phosphatase

Tartrate-resistant acid phosphatase (TRAcP) is used as a marker for osteoclasts, which are believed to be derived from phagocytic cells or phagocyte stem cell precursors. To further investigate the relationship between monocytic phagocytes and osteoclasts, acid phosphatase (AcP) activity was measured by three different techniques in human peripheral blood monocytes, monocyte-derived macrophages, and the U937 cell line. We found that cytochemistry and gel electrophoresis led to similar results, but that the colorimetric assay was inconsistent. Normal human peripheral monocytes expressed both tartrate-sensitive and -resistant AcP. In culture these cells formed polykaryons and expressed TRAcP activity that was further identified as an isoenzyme associated with bone tissue. In contrast, the U937 cells did not express TRAcP activity as measured by gel electrophoresis. Both U937 cells and monocytes possess material that interferes with interpretation of the colorimetric assay of AcP. The presence of TRAcP in monocyte-derived macrophages further supports the relationship between phagocytic cells and bone osteoclasts.     

Severe congenital absence of skin in a preterm infant

A severe case of aplasia cutis congenita in a preterm infant is described. Although major problems with thermoregulation and fluid balance were anticipated, these parameters were relatively easy to control once the patient was stabilized. Meticulous skin care and rapid formation of a membranous-like fibrous tissue layer covering the denuded areas probably played an important role in minimizing excessive fluid and heat loss. The prognosis in aplasia cutis congenita is determined by the underlying associated anomalies, the severity of skin lesions and, in our case, the maturity of the infant who died from complications of prematurity.     

Neonatal Marfan syndrome: A case report

A case of neonatal Marfan syndrome is presented. The patient was noted to have cardiomegaly and tricuspid regurgitation on antenatal ultrasound scan. She was born with long, slender fingers and toes, an aged appearance and non-paralytic hypotonia. Echocardiogram revealed a dilated right atrium, right ventricle, dysplastic tricuspid valve and severe tricuspid regurgitation. She subsequently died of severe heart failure. Post-mortem examination showed the pathological features of lobar emphysema and cystic medial necrosis of the aorta. These features supported the diagnosis of neonatal Marfan syndrome. Nucleotide sequencing showed substitution of G by A at codon 1032 in exon 25 located in the long arm of chromosome 15. This resulted in the substitution of a cysteine by a tyrosine. A de novo mutation is suggested by the absence of affected family members.