Fatal pulmonary involvement in a patient with familial hemophagocytic lymphohistiocytosis.
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Biomedical subjects
Publications and source records attributed to H H Popper.
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Thirty-one solitary bronchial squamous cell papillomas (SCPs) with variable degrees of dysplasia, one combined with larynx papilloma and small cell carcinoma in the contralateral lung, and 12 papillomas combined with invasive squamous cell carcinomas (SCCs) were investigated for the presence of human papilloma virus (HPV) DNA by in situ hybridization (ISH) and the polymerase chain reaction (PCR). Benign SCPs showed an association with HPV type 11 and rarely with type 6, whereas type 16 or 18, sometimes in combination with type 31/33/35, was found in SCPs associated with SCCs. In one patient HPV type 18- and 31/33/35-positive benign SCP preceded the recurrence of HPV 18-positive SCP (this time combined with carcinoma) by 2 years. Patients with SCP exhibiting HPV 16 or 18 positivity are at high risk for the development of SCC. Virus typing seems to be a better prognostic indicator than grading of dysplasia or age relationship. Virus typing by the PCR is more sensitive compared with ISH, but positive cells cannot be determined; ISH is less sensitive than the PCR but permits a definite designation of the cell types that have integrated HPV sequences into their DNA. Our data suggest that HPV typing should be performed in every bronchial SCP.
Infection with Mycobacterium tuberculosis is a major cause of death worldwide. Identification of mycobacteria in tissue sections is usually easily achieved by acid-fast stains, but this method sometimes gives unsatisfactory results. The authors therefore compared conventional staining techniques and polymerase chain reaction (PCR) for mycobacterial DNA sequences in 24 selected tissue samples from patients with tuberculosis. In all samples, either positive or negative with acid-fast stain, mycobacterial DNA fragments were detected. In addition, tissue samples from patients with clinically proven sarcoidosis were included as controls. Surprisingly, strong signals for mycobacterial DNA were found in 2 of 15 cases. Polymerase chain reaction is a useful technique in the demonstration of mycobacterial DNA fragments in patients with clinically suspected tuberculosis who have acid fast stain-negative histology. An epithelioid granulomatous reaction in the lung, negative by acid-fast stain and positive for mycobacterial DNA by PCR, however, does not permit a diagnosis of tuberculosis, because a positive result can also be obtained in cases of sarcoidosis. In some cases of sarcoidosis, the causal agent might be either cell wall defective mycobacteria or persistent intracellular DNA from mycobacteria.
Three cases of familial haemophagocytic lymphohistiocytosis are presented with lung infiltration by haemophagocytic histiocytes. In all patients the diagnosis was based on hepatosplenomegaly, thrombocytopenia and anaemia, abnormal increase in triglycerides, ferritin and LDH, hypofibrinogenaemia and lymphohistiocytosis with haemophagocytosis in bone marrow. Two patients died of respiratory failure due to interstitial pneumonia. In these two patients the pneumonia was obscured and misinterpreted by the pathologists. A careful re-examination revealed lymphohistiocytosis and haemophagocytic cells within the lung parenchyma. The third patient showed alveolar wall infiltration by haemophagocytic histiocytes and lymphocytes. In early childhood acute or recurrent interstitial pneumonia should prompt a search for haemophagocytic histiocytes, and familial haemophagocytic lymphohistiocytosis should be included in the differential diagnosis.
Two cases of lymphangioleiomyomatosis (LLM) of the lungs are compared, one with tuberous sclerosis and the other representing an isolated lung involvement. An increased frequency of complex chromosomal rearrangements was found in peripheral lymphocytes of the patient with tuberous sclerosis, in comparison to the patient with isolated lymphangioleiomyomatosis. Telomeric associations were found in cultured pulmonary smooth muscle cells from the patient with isolated LLM.
Five solitary squamous papillomas of bronchus with variable degrees of dysplasia, one combined with a laryngeal papilloma and with a neuroendocrine carcinoma in the contralateral lung, and five papillomas combined with invasive squamous cell carcinomas were investigated for their expression of human papilloma virus DNA by in situ hybridization. Benign squamous cell papillomas showed an association with papilloma virus type 11 and rarely type 6, whereas types 16 or 18, sometimes in combination with types 31/33/35 were found in papillomas associated with carcinomas. In one patient a benign papilloma containing human papilloma virus type 18 and 31/33/35-positive preceded a recurrence combined with carcinoma by 2 years; this recurrent papilloma and the carcinoma were also positive for human papilloma virus 18 DNA. We suggest that human papilloma virus typing should be performed in every squamous cell papilloma of bronchus. Patients with papillomas exhibiting human papilloma virus 16 or 18 positivity are at high risk for the development of squamous cell carcinoma. Furthermore, virus typing may be of prognostic importance in relation to the development of squamous carcinoma.
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Open lung biopsy in a 38-year-old female with Pringle-Bourneville syndrome and recurrent pneumothorax revealed a micronodular pneumocyte II hyperplasia, a new entity probably associated with the tuberous sclerosis syndrome. The lesion caused an obstruction of the alveolar lymphatic vessels and alveolar ducts, resulting in an emphysema-like picture. This cystic dilation of alveoli and draining lymphatics followed by rupture caused the recurrent pneumothorax. The epithelial pneumocytic nature of the lesion was confirmed by immunohistochemistry and electronmicroscopy.
This retrospective study was carried out to evaluate the effect of prostaglandin E1 on the frequency of rejection in 36 heart transplant recipients who survived orthotopic heart transplantation for 60 days or longer. The therapy for both groups was the same except group 1 (n = 12) was given PGE1 for 6 to 14 days. Indication for the PGE1 was right ventricular mismatch or failure. The prostaglandin administration started during the transplantation procedure. The dosage was 28 to 64 ng/kg/min and was tapered down from 14.7 to 32 ng later. No major side effects related to PGE1 have been observed. During the first 60 days after heart transplantation, in the group treated with prostaglandin, rejection grade 2 or higher was evident in 0.91 biopsies/patient versus 2.2 in nontreated patients, (p less than 0.05). A prolonged interval free from rejection (p less than 0.05) was observed in the patients treated with prostaglandin.