Fiberoptic bronchoscopy in patients with hemoptysis and nonlocalizing chest roentgenograms.

We reviewed retrospectively the records of 45 patients undergoing fiberoptic bronchoscopy for hemoptysis in whom chest roentgenograms either were normal or showed only nonlocalizing findings. Follow-up was available for up to three years. In none of the patients was evidence of malignant neoplasms found either at the time of the initial evaluation or at the time of follow-up. This was true for all age groups and for smokers as well as nonsmokers. We conclude that routine fiberoptic bronchoscopy for hemoptysis is not necessarily indicated in patients like ours. Indications for this procedure in this type of case should be carefully weighed.

Risk factors associated with postpartum ovarian vein thrombosis.

Thrombosis of the ovarian vein is a remarkable process occuring within a few days of labor in 1:500-1:2000 women. Its presentation is characterized by fever, abdominal pain and occasionally by a palpable abdominal mass that in earlier years sometimes lead to explorative laparotomy. With the advent of modern imaging techniques the diagnosis can be made relatively easily. The pathogenesis has been attributed to an infectious process expanding from the uterus to the right ovarian vein and stasis. A predisposition towards thrombosis has not been so far explored. In this study we retrospectively analysed the clinical features, diagnosis and treatment of 22 patients with objective documentation of post partum ovarian vein thrombosis (POVT) and assessed potential risk factors. In 11 of the 22 patients (50%) inherited prothrombotic risk factors were detected as follows: 4 were heterozygous for factor V G1691A, 2 had protein S deficiency, one had protein S deficiency and was heterozygous for factor V G1691A, and 4 were homozygous for MTHFR C677T. Eight of the 11 patients who bore a prothrombotic predisposition underwent cesarean section. Taken together, the data suggest that POVT may result from the combined effect of an infection, cesarean section and a prothrombotic tendency.

Hereditary deficiency of vitamin K-dependent coagulation factors with skeletal abnormalities.

We describe a female infant who presented with severe intracranial bleeding and was found to have a hereditary deficiency of vitamin K-dependent coagulation factors. She also had mild stippling of the left femoral epiphysis and shortness of the distal phalanges of the fingers. We studied the possible relationship between these abnormalities and a peroxisomal defect and followed their responses to treatment with vitamin K. The level of vitamin K-dependent clotting factors returned to near-normal following treatment with pharmacological doses of vitamin K, but there was no effect on the skeletal abnormalities.

Radial ray aplasia and renal anomalies in father and son: a new syndrome.

We describe a father and his son with bilateral absence of radius and thumb. Both have short stature, external ear malformation, and renal anomaly. In the son a high frequency of chromosome breaks in lymphocytes was found. We compare this familial syndrome to Fanconi anemia and other radial ray aplasia syndromes and conclude that we are dealing with a different entity, which apparently is inherited as a dominant trait.

The branchio-oto-renal (BOR) syndrome: report of bilateral renal agenesis in three sibs.

We report a man who had the branchio-oto-renal (BOR) syndrome with crossed renal ectopia. His three children were born with bilateral renal agenesis and the so-called Potter syndrome. This case illustrates the potential severity of the renal anomalies in the BOR syndrome and the inadequacy of oligohydramnios and maternal serum alpha-fetoprotein as screening methods for renal agenesis. This case also implies strongly the necessity for meticulous search for renal anomalies in individuals with the BOR syndrome and proper counseling regarding the possibility of lethal bilateral renal agenesis.

Familial midgut anomalies--a spectrum of defects due to the same cause?

We report three familial cases with congenital midgut anomalies: a father and his daughter with congenital midgut volvulus and a consequent intestinal obstruction and father's female sib with atresia of the ascending colon. A common hypothetical cause operating at different gestational periods will be discussed along with the possible genetic implications.

Aplasia cutis congenita in two sibs discordant for pyloric atresia.

We report two sibs who were the products of a consanguineous mating, and who had an extensive form of aplasia cutis congenita (ACC). In one of them the generalized skin disorder was manifested by slipping off of the epidermis and mucous membranes with the slightest trauma. This sib also had pyloric atresia and other congenital malformations. Two hypotheses are presented to explain the discordance between the siblings for the abnormalities other than the ACC. One hypothesis assumes varying degrees of severity of the same autosomal recessive disease. The second suggests linkage between the gene for ACC and the gene for an epidermolysis bullosa (EB)-like disorder and pyloric atresia. a recombination event involving the EB-pyloric atresia gene in one carrier parent would then lead to an offspring with only ACC. Prenatal diagnosis is suggested by monitoring alpha-fetoprotein levels in aminotic fluid.

Monosomy 21: a possible stepwise evolution of the karyotype.

We describe a female infant with manifestations of complete monosomy for chromosome 21 intrauterine growth retardation, failure to thrive, craniofacial anomalies, arthrogryposis-like features, and psychomotor retardation. Chromosome analysis demonstrated mosaicism for three different cell lines in the various tissues examined; 45,XX,-21/46,XX,del(21)(q11)46,XX. The existence of these three lines suggests a possible explanation for the few cases of "complete monosomy 21" which have been reported.

Malformation syndrome associated with small extra chromosome.

We report an infant with a previously apparently unreported lethal malformation syndrome concentrated primarily on the left half of the body, but including midline defects such as meningomyelocele, cleft lip and cleft palate, and imperforate anus. The infant also had a small extra metacentric chromosome in 60% of lymphocytes. It is postulated that the small extra chromosome (whose origin remains unknown) caused the infant's condition, and that its asymmetry is compatible with an uneven distribution of the normal and aneuploid cell lines in the two halves of the body during critical phases of prenatal development.

Possible heterogeneity in spondyloenchondrodysplasia: quadriparesis, basal ganglia calcifications, and chondrocyte inclusions.

We report on 6 patients with short stature and progressive enchondromatous-like changes of the vertebral bodies and the metaphyses of the long bones. Parental consanguinity was observed in 5 of 6 cases, supporting autosomal recessive inheritance. In spite of the similarity in radiographic changes and body proportions, genetic heterogeneity is suggested by the presence of CNS calcifications in 3 patients. Two of the latter had progressive quadriparesis. We tentatively classified these patients into 2 provisional types. An iliac crest biopsy in one of the patients with "type I" disease did not demonstrate enchondromatosis. Light and transmission electron microscopic studies demonstrated large cisterns and small inclusion bodies containing a flocculent material within the rough endoplasmic reticulum of the chondrocytes. Based on the histological and radiographic findings, we propose to classify these conditions among the spondylometaphyseal skeletal dysplasias.

New form of spondyloepimetaphyseal dysplasia (SEMD) in Jewish family of Iraqi origin.

We report a distinct type of spondyloepimetaphyseal dysplasia seen in 2 sibs and their second cousin, characterized by early onset severe short stature, small chest, and distended abdomen. They had short neck, severe lumbar lordosis, and marked genu varum due to fibular overgrowth and joint laxity. Radiographically, the patients had platyspondyly, initially noted during the first years of life, with central hypoplasia of the vertebral bodies. At a later age, the vertebrae appear squared with mild interpedicular narrowing. The long bone changes, which at early age resemble those seen in achondroplasia, later include general metaphyseal irregularities and significant epiphyseal ossification delay. These patients present a previously undescribed form of spondyloepimetaphyseal dysplasia, most probably transmitted as an autosomal recessive tract.

Agenesis of tibia with ectrodactyly/Gollop-Wolfgang complex associated with congenital heart malformations and additional skeletal abnormalities.

We report on a child with bifid femur, absent tibiae, hypoplastic hallux, bilateral club feet, congenital heart defects, and segmentation anomalies of the spine and ribs. Parents are consanguineous, from a region where other consanguineous families with similarly affected individuals have been reported. Clinical and genetic controversies of the tibial aplasia-ectrodactyly syndrome/Gollop-Wolfgang complex are discussed.

Pulmonary edema following relief of upper airway obstruction.

In six pediatric patients, pulmonary edema (PE) appeared on chest x-ray film following intubation for upper airway obstruction (UAO). In spite of the x-ray appearance of PE, there was generally no concomitant physiologic or clinical decline. Only one of the patients required positive airway pressure following intubation. We conclude that PE on chest x-ray film following intubation for UAO is not uncommon, and may not be a harbinger of clinical and/or physiologic deterioration.

"Souvenir" casting silicosis.

A case of silicosis in a 47-year-old worker who was employed for many years in a small souvenir casting shop is described. This work site demonstrates many unfavorable characteristics of small industries, such as lack of awareness of the need for safety measures, exposure control, protection of workers, and lack of compliance with environmental and medical-legal standards.

Pulmonary edema secondary to chronic upper airway obstruction. Hemodynamic study in a child.

A 22-month-old girl with the syndrome of hypoventilation, pulmonary hypertension, cor pulmonale and pulmonary edema due to adenoidal hypertrophy is described. Adenoidectomy resulted in relief of all symptoms and signs within 24 h. Hemodynamic study using pulmonary artery catheter showed that the pulmonary artery pressure returned to normal 48 h after relief of the obstruction. The normal left ventricular end-diastolic pressure, measured throughout the period of obstruction, in the presence of severe pulmonary edema, could suggest a non-cardiogenic "low pressure" pulmonary edema. However, the highly negative pleural pressure which existed during upper airway obstruction indicated an elevation of transmural left ventricular end diastolic pressure (compared to pulmonary wedge pressure) and thus, suggested that the pulmonary edema in this syndrome is secondary to both - right and left heart failure.

Right ventricular outflow tract obstruction due to extrinsic compression by non-Hodgkin's lymphoma: importance of echocardiographic diagnosis and follow up.

Acquired right ventricular outflow tract obstruction due to extrinsic compression of the pulmonary artery is a rare manifestation of non-Hodgkin's lymphoma (NHL). We report a case of a 17 year old boy who was referred for evaluation of a large anterior mediastinal mass, causing dyspnea and cough and resulting in a harsh systolic murmur. Echocardiography demonstrated compression of the pulmonary artery by the mass, with a severe pressure gradient. Biopsy revealed intermediate grade, diffuse large cell NHL. Systemic chemotherapy rapidly led to a significant decrease in the size of the mass, and virtual disappearance of the pressure gradient. In this report, the use of echocardiography for diagnosis and follow up of extracardiac tumors is reviewed. It is suggested that this technique may also be useful for the routine staging of mediastinal lymphomas because of the potential consequences of clinically undetectable hemodynamic compromise.

Lymphoma-associated pancreatitis as a presenting manifestation of immunoblastic lymphoma.

A 55 year old man presented with clinical signs and symptoms of subacute pancreatitis of unknown aetiology. Two weeks later, inguinal lymphadenopathy developed and a lymph node biopsy revealed a B cell immunoblastic lymphoma. Computerized tomography showed enlargement of the pancreas and imaging features consistent with pancreatitis. Administration of VACOP-B combination chemotherapy achieved complete resolution of the pancreatic mass and the enlarged lymph nodes. We consider this patient to have had lymphoma associated pancreatitis. This case represents a rare clinical presentation of lymphoma suggesting an alternative aetiology of subacute pancreatitis in some cases.

Adequacy of the International 10-20 electrode system for computed neurophysiologic topography.

The adequacy of the International 10-20 System is reviewed in light of demands imposed on the accuracy of lead placement by improvements in spatiotemporal brain electrical activity mapping technology. Computed tomography (CT) and magnetic resonance imaging (MRI) studies reveal that the most frequent sources of inaccuracy of electrode locations are difficulties in defining the inion, variance in the anatomy of the occipital bone, inconspicuous sagittal deformities, variance of sulcal pattern, and brain width asymmetries. Owing to these factors, electrodes placed bilaterally and equidistant from the nasion-inion line may not be homotopically located. Therefore, the authors suggest that practitioners who employ the 10-20 System in order to gain precise and more individualized laterality information do so with extreme caution until the range of placement and interpretative errors is more precisely determined using CT/MRI-assisted EEG.

Pulmonary fibrosarcoma in childhood: fiber-optic bronchoscopic diagnosis and review of the literature.

Primary pulmonary fibrosarcoma is a rare malignant tumor in childhood. In the absence of metastases, complete resection is curative. An 8-year-old boy suffered from unresolving pneumonia due to an obstructing lesion in the left main bronchus. Cytology of the bronchoalveolar lavage fluid and histology of bronchial biopsy revealed the diagnosis of pulmonary fibrosarcoma. The tumor did not respond to chemotherapy, and a total lobectomy with sleeve resection was performed with complete removal of the neoplasm. Two years after the operation the child has no evidence of disease.

Changes of brain anatomy in patients with posttraumatic stress disorder: a pilot magnetic resonance imaging study.

No abnormalities in magnetic resonance images were recorded in patients with posttraumatic stress disorder other than an increased incidence (50%) of a small cleft in the callosal-septal interface, a cavum of the septum pellucidum. A similar grade of cavum was obtained in 14% of normal volunteers matched for age, socioeconomic background, and military experience. The cavum is believed to have antedated the disorder and is conceived to be a neurodevelopmental aberration. The possibility that the cavum is a marker of vulnerability to stress in psychopathology is discussed.