Cytogenetic and molecular characterization of a partial trisomy 2p arising from inverted duplication of 2p with terminal deletion of 2pter.

Partial trisomy 2p is typically associated with partial monosomy of another chromosomal segment and results from a balanced translocation in one of the parents. Inverted duplications with terminal deletions have been reported in an increasing number of chromosomes. Several cases initially interpreted as terminal duplications have instead been documented to represent inverted duplications with terminal deletions.

Use of a silastic silo for closure of the abdominal wall in a pediatric patient receiving a cadaveric split liver.

Presented is the successful management of a difficult abdominal wall closure after pediatric liver transplantation. A 5-week-old boy with biliary atresia underwent urgent cadaveric split liver transplantation. The left lateral segment of an adult donor was utilized.

Taking our case public.

Key protections are lacking in this state concerning patients' rights. Where do physicians and patients stand on this issue? Medical Society of New Jersey President Irving Ratner, MD, offers views and perspectives on patient protection.

Symptomatic splenic hamartoma: case report and literature review.

An 11-year-old girl with low-grade fever, night sweats, thrombocytopenia, and an 8-year history of progressive splenomegaly underwent an elective splenectomy. Pathologic diagnosis was multiple splenic hamartoma. The patient's symptoms resolved after the splenectomy.

United States neonatology practice survey: personnel, practice, hospital, and neonatal intensive care unit characteristics.

Background: The efficiency and access to existing perinatal resources has become a focus of debate. Despite inconsistent references to the number of neonatologists and unsubstantiated personnel requirement recommendations, recent commentaries have suggested a current 30% to 50% excess in workforce.

Objective: To describe the current neonatology workforce and its practice patterns.

Surgical implications of Henoch-Schönlein purpura.

Intestinal intussusception, perforation, necrosis, and massive gastrointestinal bleeding are the surgical conditions most often seen in Henoch-Schönlein purpura (HSP). We reviewed the charts of 183 patients who were diagnosed with HSP at two children's hospitals over a 17-year period. Ten patients underwent laparotomy.

Neuroblastoma of the thoracic inlet.

The case of a 5-month-old girl with a large neuroblastoma of the thoracic inlet, an unusual location for this tumor, is presented. The patient had marked airway compromise due to tumor compression, with extension of the mass through the thoracic inlet into the base of the neck, also incorporating the right subclavian artery. The highly unusual location of this tumor is presented, and challenging technical aspects of its management are discussed.

A technique of airway management in children with obstructed airway due to tumor.

Airway management of patients with tracheobronchial compression due to mediastinal masses poses a difficult problem. A new technique of direct vision endotracheal intubation is described, and other adjunctive measures are reviewed.

Association of low systolic and diastolic blood pressure with significant patent ductus arteriosus in the very low birth weight infant.

The systolic, diastolic, and pulse pressures of 34 infants weighing less than 1200 g, who required mechanical ventilation for hyaline membrane disease, were prospectively evaluated in the first week of life and related to the magnitude of ductal shunting. Seventeen infants developed a large patent ductus arteriosus (PDA) corresponding to significant left-to-right ductal shunting and requiring surgical ligation. By the second day of life these patients with large PDAs had significantly lower mean systolic and diastolic BPs than the non-PDA infants.

Homozygous achondroplasia with survival beyond infancy.

Homozygous achondroplasia has been thought to be uniformly lethal in the neonatal period. We describe three children, born to achondroplastic parents, who were homozygous for this disorder but who survived beyond early infancy. Two died suddenly at 37 and 33 mo; the third survives at 29 wk.

Acquired subglottic stenosis in the very-low-birth-weight infant.

In the six-year period from 1975 through 1980, acquired subglottic stenosis was recognized in eight patients during the first year of life who survived intubated mechanical ventilation as newborn infants. Seven of eight cases occurred in infants who weighed less than 1,500 g at birth. This complication was not seen in the first three years of the review, when only nasotracheal intubation was practiced.

Congenital tracheoesophageal fistula without esophageal atresia.

Congenital tracheoesophageal fistula (TEF) without esophageal atresia, commonly referred to as H-type fistula, comprises only 4.2% of all TEF's. Four infants with this entity were surgically treated at Santa Rosa Children's Hospital during the period of 1974 to 1977, and their diagnosis, surgical management, and hospital course are described in detail.

Appendicitis in acute leukemia.

The cases of five children with acute leukemia complicated by appendicitis were reviewed. All but one child had typical signs and symptoms of acute appendicitis, though four children were receiving prednisone. All five children underwent appendectomy, and all survived the immediate postoperative period.

Continual catheter administration of an elemental diet in infants and children.

Elemental diet offers a safe, simple, widely applicable technique for providing nutritional support in infants and children, thus protecting them against the hazards of malnutrition. Continual catheter administration of elemental diet provides an avenue of nutritional support free of many of the complications associated with total parenteral nutrition. Although mechanical and metabolic complications were avoided by rigid protocol compliance in our group of over 150 patients, further metabolic studies may suggest minor compositional changes providing a more optimal diet for premature and newborn infants.

Carcinoma of the breast with multinucleated reactive stromal giant cells. A light and electron microscopic study of two cases.

Two unusual carcinomas of the breast are described, containing nests of infiltrating neoplasm situated within stromal lacunar spaces, and surrounded by numerous benign appearing multinucleated giant cells. Within the stroma, there was extensive hemorrhage, hemosiderin pigment deposition, and large numbers of mononucleated inflammatory cells. The morphology of both tumors resembled the giant cell tumor of bone.

Splenectomy in children. A correlative review of indications and complications in fifty patients.

We have reported our experience with splenectomy in fifty patients less than fourteen years old. The indications, results, and complications were enumerated. These data were then correlated with the recent literature regarding pediatric splenctomy.

Gallbladder disease in children and adolescents.

Seventy-nine patients, twenty years old or younger, with cholecystitis underwent cholecystectomy during a five year period at Santa Rosa Medical Center. There was a considerable delay in diagnosis in many cases. Etiologic factors differed with race and age; however, the disease appears to be quite similar in adolescents and adults.

Gallbladder disease in the young male.

Eighteen of 2,614 patients undergoing cholecystectomy in two large general hospitals were males between the ages of two and twenty years. The great majority presented with a typical symptoms of cholecystitis. Ten of the eighteen had idiopathic cholelithiasis, with no predisposing factors generally associated with an increased incidence of this disease.