Isotretinoin dysmorphic syndrome.
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Biomedical subjects
Publications and source records attributed to R M Drake.
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During reparative surgery for meningomyelocele of the lumbar area, a 7-week-old female infant was found to have a small, well-delineated, subcutaneous, renal blastema. A 3-month-old female infant was found to have immature renal tissue, consisting of glomeruli and tubules, in a soft tissue swelling dorsal to the sacrum. Neither of these patients showed neurologic or renal abnormalities. The second patient has had a disease-free follow-up period of six years. The possible etiology and significance of these benign findings and their relation to the origin of Wilms tumors are discussed.
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Focal nodular hyperplasia and adenoma of the liver together represent approximately 2% of all primary hepatic tumors and tumor-like lesions in childhood. This study reports the clinical and pathologic features of focal nodular hyperplasia in three children, all females between 27 months and 15 years of age with asymptomatic hepatomegaly. In contrast, massive hemoperitoneum from a ruptured, hemorrhagic mass was the presentation of the hepatic adenoma in a 14-year-old girl. There was no history of administration of steroids in these four children. Angiography in two cases (one case each of focal nodular hyperplasia and hepatic adenoma) revealed hypervascular lesions with abnormal tortuous vessels suggesting a malignant tumor. Pathologically, the adenoma and focal nodular hyperplasia were readily distinguishable and the necessity for this differentiation was reviewed. All four patients are currently doing well.
A rare case of malignant paraganglioma of the urinary bladder with metastasis to a lymph node in a 12-year-old girl is reported, and eight other previously recorded cases are reviewed. Headache, fainting, and hypertension initiated by voiding were the most prominent clinical symptoms. Hematuria was present in three cases and aided in prompt diagnosis. Cystography, pelvic angiography, and cystoscopy were most diagnostic. Segmental cystectomy when feasible, was the preferred surgical treatment. The prognosis was slightly better than for other forms of extraadrenal pheochromocytomas.
We have described an observed case of SIDS in a hospital setting. The victim was "well baby" hospitalized for psychosocial reasons. Death occurred on the fifth hospital day, during sleep and two hours after feeding. The death was silent and was preceded by cyanosis and respiratory arrest. Hospital staff who attended the baby during his admission experienced the same traumatic reactions as families of SIDS victims, ie, shock, disbelief, anger, guilt, fear, blaming, sadness, and behavioral manifestations. Information on SIDS, communication about feelings and continued group support were of utmost importance in helping the staff to deal with the crisis. Although they had experienced death and serious illness on the ward and continued to be faced with grave situations, the unique aspects of SIDS, namely lack of etiology and its sudden and unexpected onset, brought forth personal feelings of vulnerability and called for extra coping devices. Our experience illustrates the need of an in-hospital support system to assess needs, coordinate efforts, and offer timely intervention after the death of an infant or child.
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The morphologic findings in 102 validated cases of adverse drug reactions classified in the "causative" and "probable" category are reported. All of them are well documented cases of drug associated reactions. The patterns of tissue reactions in these cases are divided into the following categories: inflammation, degeneration and infiltration, hypoplasia and aplasia, hyperplasia, necrosis, circulatory disturbances and vascular abnormalities, and teratogenesis. Degeneration and infiltration constitute the most common tissue reaction pattern present in these cases. The liver is the organ most frequently affected. Anti-infective drugs were associated with the highest number of adverse drug reactions, followed by antineoplastic drugs.
Thirty-eight cases of congenital cystic adenomatoid malformation of the lung are described, and a classification based on clinical, gross, and microscopic criteria is proposed. The type I lesion is composed of single or multiple large cysts (more than 2 cm. in diameter), frequently producing mediastinal herniation. The cysts are lined by ciliated psuedostratified columnar epithelium. The walls of the cysts contain prominent smooth muscle and elastic tissue. Mucus producing cells are present in approximatley one-third of the cases, and cartilage in the wall is rarely seen. Relatively normal alveoli may be seen between the cysts. The prognosis is good. Radiographic analysis of the type I lesion can preoperatively suggest the diagnosis, especially with the typical multicystic pattern. The gross appearance of the lesion corresponds closely to the radiographic image and adds another dimension to the pathologist's evaluation of the disease. The type II lesion is composed of multiple small cysts (less than 1 cm. in diameter) lined by ciliated cuboidal to columnar epithelium. Structures resembling respiratory bronchioles and distended alveoli are present between the epithelium lined cysts. Mucous cells and cartilage are not present. Striated muscle fibers may be seen rarely. The type II lesion is associated with a high frequency of other congenital anomalies, and the prognosis is poor. The type III lesion is a large, bulky noncystic lesion producing mediastinal shift. Bronchiole-like structures are lined by ciliated cuboidal epithelium and separated by masses of alveolus-sized structures lined by nonciliated cuboidal epithelium. The prognosis is poor.
Carcinoid tumors of the appendix in 30 children younger than 15 years showed no recurrence with up to 24 years' followup, regardless of size, depth of invasion, or presence of perineural involvement. All were treated by appendectomy. Twenty-three of the tumors were in girls, confirming the female preponderance reported in other series.
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Representative portions of lung from 17 newborn infants with hyaline membrane disease were studied. The consistent findings in the hyaline membranes of Schiff's positivity requiring periodic acid pretreatment, their autofluorescence between 350 and 400 nm, and the granular ultrastructure of the membrane matrix provided morphologic evidence for lipid peroxidation's having occurred in association with the genesis of pulmonary hyaline membranes of the newborn.