Biomedical subjects
Publications and source records attributed to W D Müller.
Caudal regression syndrome in a male newborn with total aplasia of the vertebral column below L I is reported. A family history of malformations of the vertebral column and diabetes as atiologic factors are discussed.
A case report of microcephalic twins born to a hithertoo undedected phenylketonuric mother is given. The female twin suffered from phenylketonuria, too. The clinical findings included microcephaly, growth retardation, retarded bone age and an unusual facies. The psychomotor development was retarded in both twins, but more so in the phenylketonuric twin despite appropriate low phenylalanine diet.
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Description of a newborn male suffering from hydrops fetalis of unknown cause. Placenta showed multiple chorioangiomata. Coincidence of chorioangiomata of the placenta and hydrops fetalis has not been previously reported. The authors suggest a new kind of glomerulopathy as a cause of congenital nephrotic syndrome.
The nasal CPAP modification of spontaneous positive pressure breathing is technically simple, non-invasive for the patient, and does not interfere with routine infant care, yet provides most of the advantages of other CPAP modifications. Endotracheal intubation is eliminated since airway pressure is delivered by two short canules attached by means of adhesive tape to the patient's nose. The CPAP system was used in the care of 35 newborns and premature infants admitted to the University Children's Clinic Graz, with the diagnosis of respiratory distress (31 cases) or apnea-syndrome (4 cases) between Sept. 1973 and July 1975. The indications for the use of this system was based on the arterial oxygen tension values while breathing 100% O2 for 15 min. 22 of the 28 patients surviving were treated with N-CPAP alone, whereas 13 patients were CPAP-failures and required further ventilation (IPPV,PEEP). In the latter group apnea and 2 cases of pneumothorax necessitated intubation and ventilation, rather than the respiratory distress for which they had been initially treated. All 7 patients who died during this study were from this group of N-CPAP-failures (20% of the total, 54% of all N-CPAP-failures). Keeping ambient oxygen concentrations constant, an increase in arterial oxygen tension was measured in almost all patients surviving on N-CPAP and was initially even seen in those who later died, so that the ambient oxygen concentration could eventually be decreased.
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A case of congenital aplasia of the diaphragm with hypoplasia of both lungs is reported. By the complete absence of the diaphragm the liver could in the early stage of embryonic development expand around the heart into the thoracic cavity. This resulted in a growth arrest with consequently severe hypoplasia of both lungs, which were originally normally developed.
A new case of a combined malformation of the ear (anotia), eye (anophthalmia) and vertebral colum is presented. The distinction from the Goldenhar Syndrome and possible embryologic causes are discussed.
22 children who required respiratory aid (LPPV, CPAP) in the newborn period were followed up to the age of 12 to 36 months. The birth weight ranged between 1050 and 4100 g and the duration of artificial ventilation ranged between 36 and 698 hours. Neurological development of 17 children was completely normal, whilst four showed noticeable hyperkinesis or slight dystonia and one child developed spastic diplegia of a moderate degree, which was almost completely overcome by physiotherapy. The mean developmental quotient (Eggers-Wagner) ranged between 76 and 127.
Fibromuscular dysplasia (FMD) of the left carotid artery was diagnosed on the basis of the typical angiographic changes in a seven-year-old girl suffering from acute hemiplegia. A repeat angiography of both carotid and renal arteries 8 months later revealed no pathological changes. The diagnosis of FMD of the carotid arteries is extemely difficult and requires a biopsy or repeat angiography for verification.
Coagulation studies from capillary blood, consisting of the determination of fibrinogen, factors II and V and proactivator-plasminogen, were done in 104 newborns. In healthy newborns fibrinogen and factor V was found near the adult level, while factor II and proactivator-plasminogen showed a severe deficit. None of the coagulation factors was dependent of gestational age. Fibrinogen was significantly lower in the group of children with perinatal asphyxia. In ill newborns there was a significant correlation between fibrinogen and factor II and fibrinogen and factor V as was between factors II and V. No correlation could be demonstrated between proactivator-plasminogen and any of the other coagulation factors.
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Three cases of severe costovertebral deformities together with embryologically related cardiac malformations (Fallots Tetralogy and Truncus arteriosus communis) are presented. Two patients died because of their thoracic deformities and limited respiratory function. Relationships to similar bizarre veretebral anomalies are discussed. The cause is probably a teratogenic agent, acting between the fifth to eight embryologic week.
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Explore the source record for details and available documents.