FGFR2 mutation in clinically nonclassifiable autosomal dominant craniosynostosis with pronounced phenotypic variation.

We describe a mutation in the FGFR2 gene in affected members of a large family with inherited autosomal dominant craniosynostosis. The mutation is a G1044A transition at codon 344 of exon B of the gene and results in abnormal splicing of the FGFR2 transcript. The phenotypic effect of the mutation varies greatly. It ranges from minor anomalies such as slight hypertelorism and maxillary hypoplasia to severe manifestations such as brachycephaly and dolichocephaly. The severe cases required surgery because of increased intracranial pressure. The patients cannot be assigned clinically to one of the known craniosynostotic syndromes with mutations in FGFR2, e.g., Crouzon, Pfeiffer, or Jackson-Weiss. This study demonstrates that FGFR2 mutations can result in a spectrum of craniofacial abnormalities even within one family. The known eponymic syndromes of Crouzon, Pfeiffer, or Jackson-Weiss only describe phenotypic extremes of this spectrum. Therefore, the clinical classification should be abandoned and replaced by a molecular one such as "FGFR-associated craniosynostosis syndromes."

Potentially deleterious effect of cornstarch glove powder in tubal reconstructive surgery.

Even with the most painstaking techniques, cornstarch granules used as surgical glove powder are deposited in the abdominal cavity during laparotomy. In tubal reconstructive surgery, aimed at the elimination of fibrous adhesions, this deposition may have undesirable consequences. After a successful operation, starch particles introduced in the abdominal cavity may result in the formation of new adhesions. It is therefore desirable to develop an alternative, completely nonreactive, glove powder.

PIP: This study attempted to determine whether cornstarch granules when used as surgical glove powder are deposted in the peritoneal cavity during surgery. To this end 10 women undergoing tubal reconstructive surgery by microsurgical techniques and 10 women undergoing total abdominal hysterectomy were studied. Their abdominal cavities were washed 2 times; once at the start of the operation and once at its close using 50 ml of normal saline to irrigate before 20 ml fluid samples were extracted from the pouch of Douglas for cytological examination. All 40 fluid samples were heavily contaminated with starch particles; some of the fluid samples from the end of surgery also showed phagocytosis beginning. Therefore, even with microsurgical techniques designed to minimize adhesion formation postoperatively, the cornstarch in which surgical gloves are packed may result in pelvic adhesion formation. A new nonreactive glove powder must be developed.

Foreign body granulomas in peritubal and periovarian adhesions: a possible cause for unsuccessful reconstructive surgery in infertility.

A major problem in tubal reconstructive surgery is the recurrence of peritubal and periovarian adhesions which negate the surgical endeavors. In many cases the etiology of these adhesions is obscure. Histologic re-evaluation with polarized light of 49 resected adhesions revealed residual cornstarch glove powder and suture material in seven specimens. It is concluded that cornstarch powder may be an active agent, and may not be as innocuous as its widespread use indicates.

Intracellular starch granules in cytologic material.

Starch glove powder may contaminate the environment and material removed from patients. When such material is not fixed immediately, starch granules may be ingested by viable phagocytes, possibly giving rise to the mistaken impression that phagocytosis took place in the body of the patient. The presence of phagocytosed material in cytologic preparations should not automatically lead to the conclusion that intravital phagocytosis has taken place.

Heparanase expression: a potential ancillary diagnostic tool for distinguishing between malignant cells and reactive mesothelium in body cavity effusions.

OBJECTIVE: Heparanase, an endoglycosidase that cleaves heparan sulphate, is frequently expressed in carcinomas and was suggested to play a role in cell invasion and metastasis. We investigated whether heparanase expression may serve as a reliable marker to discriminate benign mesothelial cells from malignant cells shed into body cavities. METHODS AND RESULTS: Cytological smears of effusions from 51 hospitalized patients were immunostained for heparanase. Strong immunoreactivity was noted in 35 of 40 (88%) carcinoma samples and in all three malignant mesothelioma cases. Only rare (<3%) reactive mesothelial cells were noted showing a faint negligible staining. Specificity was 100%, sensitivity 88%, and positive and negative predictive values were 100% and 89% respectively. CONCLUSIONS: Our results suggest that heparanase may be of value as a complementary component in a diagnostic panel of markers, contributing to its reliability and accuracy.

Giant cell carcinoma of the pancreas. Report of a case with upper gastrointestinal bleeding diagnosed by endoscopic brush cytology.

A case of upper gastrointestinal bleeding as the first and only manifestation of giant cell carcinoma of the pancreas invading the duodenum is described. The polypoid tumor was visualized during endoscopy. The diagnosis was made by a cytologic brush and confirmed by endoscopic biopsy. The rather uncommon presentation of pancreatic carcinoma and the possibility of establishing the diagnosis by a cytologic brush is discussed.