Trisomy 8 mosaicism syndrome.

Chromosome 8 is the largest autosome thus far found to be trisomic among liveborn infants. Trisomy 8 "mosaicism" syndrome (T8mS) consists primarily of individuals whose chromosome complement is mosaic for chromosome 8 (T8m), i.e., patients with a chromosomally normal cell line in addition to the trisomic 8 cell line, and a few known individuals with full trisomy 8 (T8), i.e., each cell observed contains an extra chromosome 8. Reported cases of both types share a number of common features and thus have helped to delineate a new syndrome. Common features of T8mS include mild-to-moderate mental retardation, strabismus, osseous and soft tissue abnormalities, lowset and/or malformed ears, broad bulbous nose, palate deformity, various types of congenital cardiovascular disorders, hydronephrosis, cryptorchidism, and characteristic dermatoglyphics. Since chromosomal mosaicism is often present in this syndrome it is not surprising that considerable phenotypic variation exists. The present report of one of the youngest individuals yet described with T8m adds two more physical findings (dense corneal clouding and a heretofore undescribed clavicular deformity) to the constellation of abnormalities associated with T8mS. On the basis of the phenotypic and cytogenetic findings in this and 17 similar patients previously reported it is proposed that T8mS is a distinct clinical entity.

A case of short rib polydactyly.

A patient with neonatal dwarfism had many characteristics of the Majewski syndrome, except for a cleft lip and abnormalities of internal organs. Absence of these anomalies and presence of more severe pathological changes in bone suggest either a wider spectrum for this disorder or a separate entity.

Traumatic perforation of the pharynx in the newborn.

Two newborn, low-birth-weight infants with traumatic perforation of the pharynx and an additional 18 previously reported cases are presented. Injury produced by pharyngeal suction catheters and nasogastric and endotracheal tubes is generally unrecognized until the baby develops signs of esophageal obstruction or radiographic evidence of pharyngeal perforation, usually in the posterior mediastinum. The catheter may enter the pericardial space. Conservative management with intravenous antibiotics and a feeding gastrostomy is favored, except in instances that require mediastinal decompression. The key to prevention is the use of soft-tipped suction catheters and nasogastric tubes and careful visualization of the cords during endotracheal intubation. The use of metal stylets to direct the endotracheal tube is condemned. Pediatrics, 56:1019-1022, 1977, PHARYNX, PERFORATION, SUCTION CATHETER, NASOGASTRIC TUBE, ENDOTRACHEAL TUBE, METAL STYLET.

Ultrasonic detection of osteomyelitis. Pathologic correlation in an animal model.

The authors correlated sonographic findings with histologic findings in a rabbit model of osteomyelitis. Staphylococcus aureus osteomyelitis was induced in the femora of 11 New Zealand white rabbits. The opposite leg was used as a control. Sonographic findings showed fluid adjacent to the bone in 11 cases. The fluid was believed to be an inflammatory exudate, and its presence suggested osteomyelitis. Pathologic analysis showed extraperiosteal purulent fluid adjacent to the cortex as well as histopathologic changes of osteomyelitis in the 11 rabbits. There was one false-positive sonographic diagnosis of osteomyelitis in a rabbit that had a soft tissue abscess adjacent to the cortex.

Renal growth.

Application of the renal growth chart may yield considerable information on longitudinal growth of normal and diseased kidneys. Its systematic use in following patients with urinary tract infection and vesicoureteral reflux is established, and application to other forms of renal disease in childhood may increase current knowledge of the natural history of these diseases.

Diagnostic radiography and ultrasound in the perinatal intensive care unit.

A range of possible solutions to common problems associated with radiographic examination of the newborn is presented. The various modes in which ultrasound is currently used as a diagnostic modality are reviewed together with recent innovations that have greatly increased the clinical utility of the technique.

Radiographic findings and etiologic diagnosis in ambulatory childhood pneumonias.

The chest roentgenograms of 128 consecutive ambulatory children with radiologic pneumonia were read independently and without clinical information by a faculty general pediatrician (Ped), a pediatric radiologist (R-P) and a general radiologist (R-G). The films were classified as normal, indicative of a viral or bacterial process, or indeterminate. Readings were compared with results of viral titers and bacterial cultures. Agreement between any two observers in classifying films, measured by unweighted Kappa, while statistically significant (p less than 0.001) for any pair, was low. There was no significant difference between the agreement scores of Ped/R-P, Ped/R-G, and R-P/R-G. Twenty-one patients had fourfold viral titer increases (N = 16) or positive bacterial cultures of blood or pulmonary aspirate (N = 5). The sensitivity of viral readings for titers increases varied from 19% to 68% depending on observer type; the sensitivity of bacterial readings for positive bacterial cultures varied from 60% to 80%. The three observers agreed on a correct reading in only three children with viral and three with bacterial pneumonia. Because of poor observer agreement and appreciable false-negative errors when viral and bacterial readings were compared to titer increases and positive bacterial cultures, respectively, we conclude that radiographic findings are poor indicators of etiology diagnosis in ambulatory childhood pneumonias and, of themselves, are an insufficient data base for making therapeutic decisions.

Teleradiology in the emergency room.

Many emergency rooms do not offer full-time coverage by a radiologist. Teleradiology can enable a radiologist to offer services to a number of emergency rooms. This allows more timely interpretation of emergency room studies and improved patient care. In our clinical trial, we found several problem areas and developed ways to improve our diagnostic accuracy. Since the resolution of transmitted images is less than that of film, a review of the original films at some later time is needed.

Respiratory distress syndrome (hyaline membrane disease).

The respiratory distress syndrome (RDS) continues to be the most common cause of death in premature infants. However, over the last 20 years there has been a series of stepwise advances resulting from laboratory studies and clinical observations which have resulted not only in a better understanding of this disease but in successful therapeutic applications as well. The purpose of this review will be to discuss RDS with respect to its (1) pathophysiology, (2) diagnosis, clinical as well as radiological, (3) management including its influence on the chest film, and (4) complications of treatment, with emphasis on radiological interpretation. The complications will include interstitial emphysema, pneumomediastinum, pneumothorax, pneumoperitoneum, air embolus, persistent patent ductus arteriosus, and bronchopulmonary dysplasia as well as the problems associated with extubation.

The cross-table lateral view in neonatal pneumothorax.

The cross-table lateral view of the chest can facilitate a more realistic appreciation of a pneumothorax than the supine frontal projection alone or in combination with the vertical-beam lateral view. This view also permits an optimal evaluation of the relative position of the lung, intrapleural air, and the tip of the chest tube in the supine newborn. The presence and size of a pneumothorax can usually be determined by locating the anterior lung edge on the cross-table lateral view. The anteroinferior corner of lung often aids in locating this anterior lung edge. The other structures that simulate the anterior lung edge on the cross-table lateral view include sternal retraction, rib ends, the axillary soft-tissue density, and posterior atelectasis. Because of the cause-effect relation of pneumothorax to intracranial bleeding in the premature infant, more widespread use of this technique to detect pneumothorax is recommended.

Osteomyelitis: detection with US.

To evaluate the role of ultrasound (US) in the detection of osteomyelitis, the authors prospectively studied 48 patients clinically suspected of having osteomyelitis. A sonographic diagnosis was made if fluid was seen directly in contact with bone, without intervening soft tissues. Twelve of the 48 patients were subsequently found to have osteomyelitis. In 10 of them, US demonstrated abnormal fluid adjacent to the bone. This fluid was thought to represent an inflammatory exudate dissecting in a subperiosteal and/or extraperiosteal location. Eight of the 48 patients had soft-tissue fluid collections. The rest of the patients either had no abnormalities or had cellulitis. The authors conclude that US can be useful in the detection of osteomyelitis.

Clinical trial of digital teleradiology in the practice of emergency room radiology.

The application of digital teleradiology (DTR) to radiologic examinations performed in the emergency room was evaluated. A total of 919 examinations (ten computed tomographic; the rest, radiographic) were transmitted to a radiology resident at another hospital emergency room. The 512 X 512 images were reviewed by an attending radiologist and compared with another attending radiologist's interpretation of the original films. Cases with discrepant interpretations were analyzed. Inadequate DTR image quality was responsible for clinically significant discrepancies in 14 of 897 cases (1.6%) available for follow up. Problem areas such as the detection of pneumothorax and abdominal calcifications were identified. Retransmission of optically zoomed images of areas of concern and repeat radiographs of overpenetrated films are suggested to improve DTR performance.

Calvarial and phalangeal vascular impressions in thalassemia.

The nutrient foramina in the phalanges and/or the calvarial vascular markings were evaluated in 34 patients with thalassemia. Enlarged nutrient foramina were noted in 17 patients, and abnormal calvarial markings were observed in 19 patients. The prominence of the vascular changes in the phalanges paralleled those in the calvaria, and the calvarial vascular impressions correlated with the width of the skull. The enlarged superficial calvarial vessels associated with the vascular impressions may represent a hazard to the patient. A transfusion regimen from an early age seemed to prevent enlargement of these vascular impressions.