In 1971 KEUTEL et al. described a new syndrome in two siblings presenting with peripheral pulmonary stenoses, brachytelephalangism, neural hearing loss and abnormal cartilage calcification. Recent investigations provided evidence that mutations in the gene encoding the human matrix GLA protein cause Keutel syndrome. With these new insights in the disease the symptomatology of Keutel syndrome was reassessed. The follow-up of the two siblings was studied by clinical and post mortem examination.As a new feature of Keutel syndrome tracheobronchial stenosis and concentric calcification of pulmonary, coronary, hepatic, renal, meningeal and cerebral arteries were described.Complementary KEUTEL et al.[1] described a syndrome with brachytelephalangism, abnormal cartilage calcification, neural hearing loss and peripheral pulmonary stenoses in a brother and sister born to consanguineous parents. Meanwhile Keutel syndrome was detected in 17 patients in several countries. After a follow-up study tracheobronchial stenosis and abnormal calcification in this disease is described as an important feature. Case reportsIn 1971 KEUTEL et al.[1] observed multiple peripheral pulmonary stenoses, skeletal anomalies of the extremities, deafness and heterotopic calcifications of the bronchi, trachea and cartilage of the ribs in a male born in 1961 (case 1) and his sister born in 1958 (case 2). Both had been suffering from an exertional dyspnoea since childhood. The mother of the sibs was the daughter of her husband9s cousin. Two other males and another female of the family were free of pulmonary complaints. Both children attended school and the male became a joiner and the girl a merchant. The young male never smoked and the female smoked 1 -2 cigarettes . d -1 from 1976 -1979. Case 1In 1991 the 30-yr-old male (height 1.70 m, body weight 68 kg) complained of increasing dyspnoea and cough. His craniofacial appearance was characterized by midfacial hypoplasia with a broad depressed nasal bridge. The auricles were stiff and the end phalanges of his fingers were thickened. At his thighs livid maculae were found.He presented an inspiratory and expiratory stridor and wheezing on lung auscultation. A grade 3/6 systolic murmur was heard over the heart and an additional systolic murmur over both lungs.Lung function test revealed severe obstructive airway disease without bronchodilator response, the signs of intra-and extrathoracic airway obstruction and increased thoracic gas volume (vital capacity (VC) 2.99 L, 61% pred; total lung capacity (TLC) 7.70 L, 128% pred; forced expiratory volume in one second (FEV1) 1.36 L, 34% pred; FEV1/VC 45.4%; airway resistance (Raw) 1.09 kPa6s . L -1 ; forced inspiratory volume in one second (FIV1) 0.95 L).Chest radiograph and computed tomography showed a decreased coronary diameter of the full length of trachea of 10 mm (13)(14)(15)(16)(17)(18)(19)(20)(21)(22)(23)(24)(25) BREATNACH et al. [2]) and a sagittal diameter of 9 mm (13 -27 mm pred, BREATNACH et al. [2]). In computed tomography the coronary di...
The retinoblastoma protein (pRB), p16, and cyclin D1 are major components of the RB pathway, which controls the G1 checkpoint of the cell cycle. Proper regulation of this pathway is crucial for normal cell proliferation. Abnormal forms of these proteins have been found in various types of malignant tumours. In the present report, immunohistochemical techniques were applied to study the expression of pRB, p16, and cyclin D1 in 161 samples of primary small cell lung cancer (SCLC) and 20 samples of non‐small cell lung cancer (NSCLC). While pRB and cyclin D1 staining was negative in 161 specimens of SCLC, expression of p16 was observed in 153 samples. In contrast to SCLC, 16 out of 20 NSCLC cases exhibited pRB expression and 15 showed cyclin D1 expression, but only very weak p16 staining was found in five samples. These observations could provide additional criteria for the distinction between SCLC and NSCLC. Furthermore, these findings, based on primary tissues, implicate different mechanisms in the tumourigenesis of SCLC and NSCLC. Copyright © 1999 John Wiley & Sons, Ltd.
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