Sequential muscle biopsy changes in a case of congenital myopathy.

Muscle biopsies at age 7 months in a set of dizygotic male twins born floppy showed typical features of congenital fiber-type disproportion (CFTD). One of the twins died at age 1 year due to respiratory complications. The second one subsequently developed facial diplegia and external ophthalmoplegia. He never walked, remained wheelchair bound, and required continuous ventilatory support. He underwent repeat biopsies at ages 2 and 4, which showed many atrophic type 1 muscle fibers containing central nuclei and severe type 2 fiber deficiency compatible with centronuclear myopathy (CNM). Two-dimensional gel electrophoresis of muscle showed decreases of type II myosin light chains 2 and 3, suggestive of histochemical type I fiber deficiency. The progressive nature of morphological changes in one of our patients cannot be explained by maturational arrest. Repeat biopsies in cases of CFTD with rapid clinical deterioration may very well show CNM.

Prognostic significance of nucleolar organizer regions (NORS) in malignant melanoma.

Nucleolar organizer regions (NORs) are loops of ribosomal DNA (rDNA) in the nucleolus and are associated with acidic proteins. They are seen in routinely processed paraffin sections by using a one-step colloidal silver (Ag) staining method; they appear as black dots termed "AgNORs". The quantitative assay of AgNORs has been used to differentiate benign from malignant neoplasms. Melanocytic lesions differ significantly in AgNOR counts between malignant melanoma and nevi. However, conflicting results have been reported as to AgNORs' prognostic value in melanoma. A recent study showed AgNOR counts to be a more accurate prognostic indicator than Breslow's thickness. In this study, we counted the AgNORs in 26 patients with primary cutaneous melanomas (CMM) between 2.0 mm and 2.5 mm thick. Of these, 14 are alive without disease (AN) at 5 years after diagnosis (group 1) and 12 are dead of disease (DD) in less than 5 years (group 2). The AgNORs were scored in 30 nuclei per tumor, and the means were calculated. For group 1, the mean number of AgNORs per nucleus was 6.88, ranging from 3.73 to 12.70. For group 2, the mean number was 6.97, ranging from 3.63 to 11.67. Statistical analysis using analysis of variance (ANOVA) showed no significant difference between the groups (p = 0.33). In our study, AgNOR counts did not prove to be of prognostic value in malignant melanoma.

Primary cutaneous phaeohyphomycosis: report of seven cases.

We report seven cases of primary cutaneous phaeohyphomycosis. There were five males and two females, ranging in age from 42-65 years (mean 57.7 years). Two patients were otherwise healthy, but five were immunocompromised. One patient had rheumatoid arthritis and was on oral prednisone; two were renal transplant recipients, one was a heart transplant recipient, and the fifth had dermatomyositis. No history of trauma was elicited from any of the patients, but in two cases, foreign material was seen in the tissue sections. All lesions were on the extremities. In two cases, tissues were cultured, and these grew Exophiala jeanselmei. The others were not cultured because fungal infection was not clinically suspected. No systemic disease developed in any of the cases, and all were cured by the simple, complete excision of the lesions.

Effects of prenatal ethanol exposure on postnatal renal function and structure in the rat.

Effects of prenatal ethanol exposure on postnatal renal function and structure in the rat. Renal function and morphology were studied in 90-day-old offspring of ethanol-fed (E) rats and were compared to pair-fed control (C) animals. Compared to C rats, E rats were smaller at birth, had higher fractional sodium excretion (p less than 0.01) and lower fractional potassium excretion (p less than 0.01). In E rats, sodium (Na) restriction resulted in a significant increase in urine flow and Na wastage, whereas C rats remained in Na balance. E rats developed hyperkalemia, when potassium (K) intake was increased from 2.8 to 14 mEq/day. Baseline creatinine clearance, urine and blood osmolalities and pH, plasma electrolytes and aldosterone concentrations were similar in both groups. There was no significant difference in wet or dry kidney weight, renal water content, or renal tissue concentrations of Na or K between the two groups. No difference was found in gross morphology or light microscopic appearances of the kidneys between E and C rats. Thus rats exposed to ethanol during fetal life have a defect in urine concentration and Na conservation when fed a low Na diet and a defect in K excretion when given a K load without evidence of any gross or light microscopic renal structural abnormalities at 90 days of age.

Disseminated strongyloidiasis presenting as purpura.

We report a patient with disseminated strongyloidiasis who was being treated with steroids for cerebral edema caused by brain metastases from urinary bladder carcinoma. He had extensive purpura involving the abdomen, arms, and thighs. A skin biopsy specimen showed numerous larvae of Strongyloides stercoralis. Subsequently, rhabdoid larvae of S. stercoralis were isolated in the stool and the sputum. The patient died 2 days later despite thiabendazole therapy.

Retroperitoneal teratoma with fetuses.

Teratomas occur infrequently in retroperitoneal areas and are usually benign. They may contain highly organized structures like digits and limbs. The presence of a well-formed fetus in teratomas is extremely rare. This report further documents an instance in which two fetuses were embedded within the retroperitoneal teratoma.

Lipogenic activity and brown fat content of human perirenal adipose tissue.

The incorporation of 3H2O and/or 14C-glycerol into lipids and the specific activities of the enzymes acetyl CoA carboxylase and lipoprotein lipase were measured in the perirenal and subcutaneous adipose tissue of human subjects. The perirenal adipose tissue of younger subjects with higher brown adipocyte content had higher rates of lipogenesis and enzyme activities per gram tissue than the corresponding subcutaneous tissue. However, in individual specimens, the perirenal/subcutaneous ratios of all but one of the above parameters failed to show a correlation with the brown adipocyte content of the perirenal adipose tissue. One parameter, namely 3H2O incorporation into fatty acids per adipocyte, did relate to the brown adipocyte content of the perirenal adipose tissue in four normal-weight patients only.

Lipogenesis in the brown adipose tissue of the fetal baboon.

The ultrastructural and lipogenic capacity of the white and brown adipose tissue (WAT and BAT) of 10 baboon fetuses (gestational age, 138-183 days) were studied. The axillary, interscapular and pericardiac sites had at least 50% brown fat cells while the retroorbital site contained white adipocytes only. Both WAT and BAT incorporated 3H2O and 14C-glycerol into lipids at similar high rates. The activities of enzyme acetyl CoA carboxylase and glycerokinase were higher than those reported in human BAT and comparable to these reported in rodent BAT under unstimulated conditions. It is concluded that in the fetal baboon adipose tissue is capable of considerable de novo lipogenesis and that, despite the differences in microscopic appearance, WAT and BAT have similar lipogenic potentials with respect to the parameters measured.

Inclusion body myositis associated with systemic sarcoidosis.

We report an autopsy study of a 64-year-old female with systemic sarcoidosis. In addition many muscles showed typical light and electron microscopic features of inclusion body myositis. To our knowledge this association has not been previously reported.

Primary lymphoma of the liver.

We report a case of primary lymphoma of the liver, diffuse large cell type, which was treated by lobectomy. A review of the literature shows nine other similar cases of which six were also of the diffuse large cell type. Diffuse large cell lymphomas of the liver tend to form one or two large masses that can often be resected in toto. We suggest that lobectomy should be considered as a mode of treatment of primary diffuse large cell lymphoma of the liver.

Cutaneous malignant melanoma and bilateral retinoblastomas: a case report and review of the literature.

Retinoblastoma survivors following successful treatment have a predilection to develop other malignant neoplasms. This report describes a patient with bilateral retinoblastomas diagnosed and treated early in life, who developed cutaneous malignant melanoma 20 years later. In our review of the literature only 5 cases with this association have been reported. We would like to report the sixth case.

Glomerular changes in renal allografts.

The renal allograft is host to a number of injuries and all its structural components are prone to damage. The glomeruli respond to these varied stimuli in many ways. The fibrinoid necrosis, thrombosis, and polymorphonuclear cell exudation that accompany hyperacute or accelerated rejection are well-recognized. The transplant may also be afflicted by forms of de novo or recurrent glomerulonephritis. Apart from these, there are other patterns of reaction. The mesangium is often the site of a rapidly reversible change; it expands readily. Arterial changes initiate ischemia and collapse of glomerular capillary spaces. Glomerulitis accompanies cases of acute rejection, but when seen as a predominant feature, usually antedates chronic rejection. Heavy proteinuria may be associated with profound alterations in the peripheral capillary basal lamina including irregular thickening, interposition of mesangial cell cytoplasm, and lamellation. Allografts with these glomerular changes eventually fail.

Craniofacial abnormalities in osteopetrosis with precocious manifestations: report of a case with serial cephalometric roentgenograms.

Serial roentgencephalograms were taken (from the age of 2 to 8 years) of a female patient with malignant osteopetrosis. The roentgencephalograms were compared to those of a control patient with cleft lip and to other normative data. The calvaria of the osteopetrosis patient was very thick, increasing with age. The intracranial space was reduced in volume, resulting in compression of the brain. Roentgencephalometric characteristics of the facial skeleton included orbital hypertelorism, defective horizontal and vertical growth of the middle and lower face, and poorly developed dentoalveolar structures. The mandibular body was short in contrast to the wide ramus, both resulting from defective resorption of the anterior ramal border. A cone-shaped structure in the mandible extending from the condylar process into the ramus was noted. This was believed to consist of remnants of unresorbed, heavily calcified secondary cartilage constituting part of the condylar process present since intrauterine life. Recent treatment of malignant osteopetrosis by bone marrow transplantation early in life has resulted in some cases in normalization of bone structure and marrow. Serial roentgencephalometry provides a sensitive method of assessing craniofacial development in cases of osteopetrosis and presumably can be used to evaluate the effects of therapy.

Ovarian androblastoma metastatic to tonsil.

Structural pattern of a tonsillar tumor found in a 67-year-old female was similar to a small ovarian androblastoma diagnosed histologically 6 1/2 years earlier. Electron microscopic study of the tonsillar mass revealed crystalloid structures suggestive of the Leydig cell origin of the tumor. After tonsillectomy, there was no local recurrence of the tumor, but the patient died a year later of multiple metastases. There appeared to be no previous reports of ovarian tumors metastatic to tonsil, and malignant androblastomas of the Leydig cell type are extremely rare.

Verruciform xanthoma of penis. Light and electron-microscopic study.

A case of verruciform xanthoma of the penis diagnosed by light microscopy was studied ultrastructurally. No extra-oral verruciform xanthoma has been analyzed at the ultrastructural level before. On electron microscopy the lipidized cells were histiocytes distended with lipid vacuoles of varying sizes and electron density. Lipid vacuoles were also in the overlying epidermis. Viral particles were not seen in the epidermal cells.