Fryns syndrome: prenatal diagnosis and pathologic correlation

From 1988 to 1995, 96 patients (161 feet) underwent a modified Mitchell distal metatarsal osteotomy performed for mild-to-moderate hallux valgus. On AP x-rays of the standing foot, the average intermetatarsal angle was corrected from 15 degrees to 9 degrees, and the first metatarsophalangeal angles were corrected from an average of 41 degrees to 15 degrees. Criteria for evaluation of clinical results included relief of pain, appearance of foot, and shoe wear. After an average follow-up of 38 months, the overall satisfaction rate was 92.5%. Complications included 13 pin tract infections, two delayed unions, and two correction losses. The most common late sequela was transfer metatarsalgia of the lesser toes, which occurred in 20 feet (12.4%), leading to some dissatisfaction. The Mitchell osteotomy can be used on cases with less than 20 degrees of intermetatarsal angle, offering a stable construct with easy postoperative care.     

Beckwith-Wiedemann syndrome: difficulties with prenatal diagnosis

The characteristics of the midsole were examined in four pairs of running shoes by a materials test. The variables of interest were the peak acceleration, time to peak acceleration and the kinetic energy absorbed. Ten subjects then ran at a recreational jogging pace (3.5 ms-1) barefoot and in the shoes. An accelerometer secured to the lower tibia was used to measure the peak acceleration and time to peak acceleration associated with footstrike. Subjects were also videoed and a kinematic analysis was undertaken at the knee and ankle joints. The results from the materials test showed that the shoes differed in their midsole characteristics, however, no significant differences (P > 0.05) were observed in the peak acceleration and time to peak acceleration during running in shoes. These variables were significantly greater in the barefoot running condition (P < 0.05), as compared with running in shoes. Small and subtle kinematic differences were observed between the barefoot and shoe conditions. It appears that the differences observed between the shoes in the materials test were not sufficient to elicit the kinematic changes observed between the barefoot and shoe conditions. It is suggested that runners operate within a 'kinetic bandwidth' when responding to impact stresses.     

Placental site trophoblastic tumor: molecular analysis and clinical experience

Placental site trophoblastic tumor is a very rare variant of gestational trophoblastic disease which differs histologically and immunocytochemically from gestational choriocarcinoma. The English language literature includes only 74 reported cases. Seventeen patients have been managed at Charing Cross Hospital with this diagnosis. The median follow-up is 4.6 years, and the 5-year overall survival is 80% (95% confidence interval, 55-93%). Multivariate regression analysis identified an interval of >2 years since the preceding pregnancy as an independent adverse prognostic factor. Genotypic analysis by PCR allelotyping has confirmed the gestational origin of all 11 tumors successfully studied. More detailed molecular analysis has identified the causative pregnancy for eight tumors. Five were diploid biparental tumors following term pregnancies, and three were androgenetic tumors following monospermic complete hydatidiform moles.     

Oral hairy leukoplakia: clinicopathologic features, pathogenesis, diagnosis, and clinical significance

Oral hairy leukoplakia (OHL) is a lesion frequently, although not exclusively, observed in patients infected by human immunodeficiency viruses (HIV). OHL is clinically characterized by bilateral, often elevated, white patches of the lateral borders and dorsum of the tongue. Histologically, there is profound acanthosis, sometimes with koilocytic changes, and a lack of a notable inflammatory infiltrate. The koilocytic changes are due to intense replication of Epstein-Barr virus (EBV), while epithelial hyperplasia and acanthosis are likely to result from the combined action of the EBV-encoded proteins, latent membrane protein-1, and antiapoptotic BHRF1. How OHL is initiated and whether it develops after EBV reactivation from latency or superinfection remain unresolved; nevertheless, definitive diagnosis requires the demonstration of EBV replicating vegetatively in histological or cytological specimens. In patients with HIV infection, the development of OHL may herald severe HIV disease and the rapid onset of AIDS, but despite its title, OHL is not regarded as premalignant and is unlikely to give rise to oral squamous cell carcinoma.     

Craniosynostosis: is a prenatal diagnosis possible?

We report the case of a 62-year-old man with massive pulmonary embolism and severe hemodynamic impairment. Transthoracic Doppler echocardiography was fundamental in confirming the diagnosis by direct visualization of intra-atrial thrombus and signs of right chamber overload. It allowed prompt administration of thrombolytic drug and follow-up monitoring. Doppler echocardiography is a non-invasive, available technique and its early application should be considered in the evaluation of patients with suspected massive pulmonary embolism.     

Confirmation of clinical diagnosis in requests for prenatal prediction of SMA type I

Fourteen cases of alveolar echinococcosis were examined by computed tomographic (CT) scanning of the liver, including 3 cases before treatment and 11 cases 2.0-7.5 years after long-term continuous albendazole therapy. In 7 cases the hepatic lesions were almost completely calcified and cured, while in 3 cases incomplete calcification of the peripheral margin of the hepatic lesions was observed. CT scanning of the one uncured case and the 3 cases before treatment showed active lesions with heterogeneous hypodense areas in the liver without calcification on the peripheral margin. Long-term continuous albendazole therapy can result in parasitological cure with death of the parasite.     

Molecular, cytogenetic, and clinical characterisation of six XX males including one prenatal diagnosis

Cytogenetic analysis, fluorescent in situ hybridisation (FISH), and molecular amplification have been used to characterise the transfer of Yp fragments to Xp22.3 in six XX males. PCR amplification of the genes SRY, RPS4Y, ZFY, AMELY, KALY, and DAZ and of several other markers along the Y chromosome short and long arms indicated the presence of two different breakpoints in the Y fragment. However, the clinical features were very similar in five of the cases, showing a male phenotype with small testes, testicular atrophy, and azoospermia. All these patients have normal intelligence and a stature within the normal male range. In the remaining case, the diagnosis was made prenatally in a fetus with male genitalia detected by ultrasound and a 46,XX karyotype in amniocytes and fetal blood. Molecular analysis of fetal DNA showed the presence of the SRY gene. FISH techniques also showed Y chromosomal DNA on Xp22.3 in metaphases of placental cells. To our knowledge, this is the second molecular prenatal diagnosis reported of an XX male.     

Cytogenetical problems in prenatal diagnosis

The effects of Microfibrillar Collagen Hemostat (MCH) and Gelfoam after surgical implantation into incision sites of the liver, kidney, and brain were studied in beagle dogs, rabbits, and beagle dogs, respectively. The results of these experimental animal studies suggest that MCH is comparable to Gelfoam with respect to biocompatibility, rate of bioassimilation, and a lack for adverse systemic effects. The brain, liver, and kidney tissues responded comparably to MCH and Gelfoam with a mild to moderate infiltration of macrophages and mononuclear cells. Most of the hemostatic compound had disappeared from the incision sites by Day 28 and completely disappeared by Day 84. The tissue degree response was interpreted as a factor in the process of bioassimilation of the two hemostatic materials. Both hemostatic compounds contributed to adhesion formation in the experimental models. The incidence of adhesions was somewhat lower for MCH than for Gelfoam, but both produced more adhesions than were found at the control sites. The adhesions were only to the adjacent structures and always localized to the surgical site. When MCH or Gelfoam is used under conditions similar to those in the present experimental study, where tissue approximation is impaired, and where growth of granulation tissue is stimulated by the physical presence of the hemostatic compound, there is the possibility for increased incidence of adhesion formation. However, when an intraperitoneal absorbable hemostatic compound is desired, the present studies in experimental animals suggest that MCH will be safe by exhibiting minimal tissue reaction.