A cytogenetic study of gonadoblastoma tissue in two cases.

The hypothesis that gonadoblastoma (gonocytoma III) arises from gonadal tissue with a male chromosome complement has earlier been forwarded. In the literature there is no case with a well documented diagnosis of gonadoblastoma and absence of a Y chromosome. In the two presented cases, one a phenotypic female, the other a phenotypic male, gonadoblastoma was diagnosed. Cytogenetic studies of the removed gonadoblastomas revealed a Y chromosome in both cases. This is in accordance with the hypothesis.     

Does the Z gene variant of alpha-1-antitrypsin predispose to hepatic carcinoma?

In 10 of 56 patients with primary liver carcinoma the nontumorous hepatocytes contained diastase resistant, periodic acid-Schiff positive and alpha-1-antitrypsin positive (immunoperoxidase technique) globules. This is a frequency of 18 per cent among patients with liver carcinoma against 6 per cent in an unselected autopsy series. The tumors were of the hepatocellular or mixed type in nine of the 10 patients, and the frequency among such patients was 23 per cent. We consider that these globules indicate a carrier of the protease inhibitor allele of the Z gene variant (single or double).     

Demonstration of alpha 1-antitrypsin in hepatomas.

Sixty-nine primary malignant hepatomas were examined for the presence of alpha 1-antitrypsin (alph 1-AT) in tumor cells using immunohistochemical methods. Twenty-eight tumors showed positivity for alpha 1-AT. The reaction was globular and PAS-positive in 12 hepatocellular tumors and thus simulated the pattern of alpha 1-AT accumulation in hepatocytes in subjects carrying the Z-gene for alpha 1-AT. In fact, eight of these 12 tumors presented this pattern in the nontumours liver tissue. In ten hepatocellular tumors the reaction was finely granular throughout the hepatocytic cytoplasm, but was present in only a small number of cells. Still fewer cells were positive in six cholangiocarcinomas. The globular alpha 1-AT in tumor cells may be genetically determined when associated with the Z-gene. A reappearance of fetal gene products may be assumed in three hepatocarcinomas with globules positive for alpha-fetoprotein as well as alpha 1-AT.     

Lymphocytic thyroiditis. II. The course of the disease in relation to morphologic, immunologic and clinical findings at the time of biopsy

Thirty-two patients with goitre and lymphocytic thyroiditis were followed for 1 1/2--19 years (average 7) after open surgical biopsy. Treatment with thyroid hormone was started when myxoedema was diagnosed. Five patients (group A) regained normal glandular size, remained euthyroid and had elevated antibody titres. Six patients (group B) continued to have goitre and elevated antibody titres and remained euthyroid. Thirteen patients (group C) developed myxoedema, while 8 (group D) demonstrated myxoedema at the time of biopsy. The patients in groups C and D had a higher average age and their biopsies showed more marked fibrosis compared with groups A and B. The goitre disappeared during treatment in 62% of the patients and the microsomal antibody titre also decreased in them, whereas the thyroglobulin antibody titre decreased in all treated patients. The results indicate that the degree of fibrosis in the thyroid gland is of overall importance for the prognosis with regard to glandular function. It seems evident that the treatment with thyroid hormone influences the autoimmune process so that the activity decreases.     

Short hard palate in prenatal trisomy 21

OBJECTIVE: The aim of the present study was for the first time to examine on postmortal material the total midpalatal length of the hard palate and the length of its two components (the maxillary and palatine parts) in trisomy 21 fetuses, and to compare the results to normal standards. DESIGN: Material from 31 human fetuses with genetically verified trisomy 21 was studied. The fetuses were derived from legally induced or spontaneous abortions. Palates were, after sectioning, radiographed in lateral projection (Grenz Ray radiographic apparatus). Cephalometric measurements were performed with a digital caliper. Statistically, the length measurements for the two groups were compared, adjusting for crown rump length (CRL) through linear regression. At two specific ages (150 and 170 mm CRL), the length of the palatal components in trisomy 21 was compared to normal standards. RESULTS: For CRL 150 mm and CRL 170 mm it appears that all three palatal lengths, total length, maxillary length, and palatinal length are significantly shorter in fetuses with trisomy 21. CONCLUSION: The main conclusion of our study is that the total palatal length in prenatal trisomy 21 is shorter than normal and that this is due both to a shortness of the maxillary and the palatine components of the hard palate.     

A histological and radiological investigation of the nasal bone in fetuses with Down syndrome.

OBJECTIVES: Previous studies of nasal bone development in Down syndrome have used radiographs or ultrasound for the detection of nasal bone length or nasal bone absence. The aim of this study was to investigate the presence and size of the nasal bones in postmortem Down syndrome fetuses by means of radiographs and histological examination. METHODS: Thirty-three aborted human fetuses (gestational age 14-25 weeks) with Down syndrome were included. A mid-sagittal tissue block was excised from the skull base to the foramen magnum and along the lateral aspect of the spine. Radiographs of the tissue block were taken in lateral, frontal and axial projections. The length of the nasal bone was measured. The tissue blocks were cut in serial sections and stained. The crown-rump length (CRL), foot length (FL) and number of ossified bones in the hand and foot (CNO) were recorded. RESULTS: A total of 8/33 fetuses had bilateral nasal bone absence and two had unilateral absence. In fetuses with radiographically diagnosed nasal bone absence, no nasal bone could be found histologically. The majority of the Down syndrome fetuses had CRL, FL and CNO values within the range of those for normal age-matched fetuses. Nasal bone length was normal or reduced. CONCLUSIONS: Absence of the nasal bone was registered by postmortem examination in one-third of fetuses with Down syndrome. In some fetuses this could be a result of delayed maturation associated with Down syndrome. The phenotypic differences in nasal bone appearance may reflect genotypic differences in the Down syndrome group.     

Periodic acid Schiff-positive non-glycogenic globules in hepatocytes. Differential diagnostic aspects in screening for alpha-1-antitrypsin globules in an autopsy material.

Thirty-eight subjects with diastase-resistant PAS-positive cytoplasmic globules in hepatocytes were found among 238 autopsies. In 15 of the 38 subjects the globules were antigenically alpha-1-antitrypsin, in 23 subjects they were not. The latter globules were found in centrilobular regions, the alpha-1-antitrypsin globules mainly in periportal regions. The non-alpha-1-antitrypsin globules showed less differences in size (6-10 mu) and a smaller number per hepatocyte (1-7) than the alpha-1-antitrypsin globules (1-40 mu and 1-30 per cell). The non-alpha-1-antitrypsin globules were only demonstrated in livers with centrilobular sinusoidal dilatation having, in all cases but one, also centrilobular, confluent necrosis. This type of globules can be assumed to be of differential diagnostic importance mainly in an autopsy material. The nature of these globules is discussed.     

Craniofacial tissues including tooth buds in fetal hypohidrotic ectodermal dysplasia

OBJECTIVE: Hypohidrotic ectodermal dysplasia (HED) comprises defects in hair, teeth, and sweat glands. Disturbances in other ectodermal tissues have been associated with the condition. Our objective was to examine ectodermal craniofacial structures histologically in a fetus with HED and to compare the findings to similar structures in normal control fetuses. MATERIALS AND METHODS: A male fetus diagnosed with HED was therapeutically aborted in the 15th week of gestation. One male and two female healthy fetuses were used as normal controls. All fetuses were examined with parental consent, and had comparable sizes. Their bone maturation stage in the hand was identical. Tissue blocks from the craniofacial region were excised from all fetuses and prepared for histological analysis (formalin fixed, stained with toluidine blue or Alcian blue). The tissues examined were: tooth buds, skin and skin appendages, oral mucosa including minor salivary glands, major salivary glands, lacrimal glands, and adenohypophysis. RESULTS: Fewer tooth buds, minor salivary glands, and hair follicles were observed in the HED fetus as compared to controls. The structures of the epidermal components in the developing HED organs were loose and disorganised. The adhesion between the ectodermal and mesenchymal organ components in the HED fetus seemed to be disturbed.