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We describe a brother and a sister with a syndrome of short stature, microcephaly, mental retardation, and multiple epiphyseal dysplasia. The parents were normal. This appears to be the second example of the syndrome first described by Lowry and Wood [1975] in two boys who had epiphyseal dysplasia, short stature, microcephaly, and nystagmus; one of these patients was mildly mentally retarded. The Lowry-Wood syndrome probably is an autosomal recessive trait.

A simple and rapid method for transferring RNA from agarose gels to nitrocellulose paper for blot hybridization has been developed. Poly(A)+ and ribosomal RNAs transfer efficiently to nitrocellulose paper in high salt (3 M NaCl/0.3 M trisodium citrate) after denaturation with glyoxal and 50% (vol/vol) dimethyl sulfoxide. RNA also binds to nitrocellulose after treatment with methylmercuric hydroxide. The method is sensitive: about 50 pg of specific mRNA per band is readily detectable after hybridization with high specific activity probes (10(8) cpm/microgram). The RNA is stably bound to the nitrocellulose paper by this procedure, allowing removal of the hybridized probes and rehybridization of the RNA blots without loss of sensitivity. The use of nitrocellulose paper for the analysis of RNA by blot hybridization has several advantages over the use of activated paper (diazobenzyloxymethyl-paper). The method is simple, inexpensive, reproducible, and sensitive. In addition, denaturation of DNA with glyoxal and dimethyl sulfoxide promotes transfer and retention of small DNAs (100 nucleotides and larger) to nitrocellulose paper. A related method is also described for dotting RNA and DNA directly onto nitrocellulose paper treated with a high concentration of salt; under these conditions denatured DNA of less than 200 nucleotides is retained and hybridizes efficiently.

Gastric emptying was measured using a modification of the double-sampling dye dilution technique in 16 children with gastroesophageal reflux and partial thoracic stomach (hiatal hernia), 13 with reflux per se, and 12 controls with nonspecific vomiting. No differences could be demonstrated between the rate of emptying in these groups. Our study failed to provide a rational explanation for the copious projectile vomiting that is a frequent manifestation of these disorders.

Radiographic analysis of 24 cases of hypophosphatasia (H) from 9 Paediatric Centres was performed. 3 cases were of neonatal (lethal), 18 cases of infantile (severe) and 3 cases of late (benign) type. Some of the patients were in reality borderline cases between these groups. In the authors' material all the patients showed radiographic signs of the disease. These were divided into diagnostic, characteristic and suggestive features. All of the patients had in common generalised (usually irregular) osteoporosis, generalised (usually irregular) metaphyseal changes, craniostenosis (13 of 18 infantile cases) or widened cranial sutures and ofter bowing of the long bones. Besides the well know radiographic features of hypophosphatasia some less well known, rare or 'new' ones such as, 1. spurs of the long bones (Bowdler sign), 2. distal femoral central metaphyseal defects and epiphyseal defects, 3. S-like deformities of the tibiae, 4. abnormal shape of the distal phalanges of the fingers, 5. multiple rib fractures and slender bones, 6. wedging of the lower thoracic and upper lumbar vertebrae, 7. partial premature fusion of the epiphyses, 8. nephrocalcinosis, 9. loss of lamina dura around the teeth, 10. variation in radiographic appearances of a pair of siblings with lethal form, and, 11. rapid changes in roentgen appearances. are discussed. In two of our patients (siblings) phosphoethanolamine was undetectable in the urine. The authors doubt if a normal skeletal survey may be present at any stage in any of the three major types of hypophosphatasia.

The acute ventilatory response to hypoxia (HVR) and to hypercapnia (CO2VR) was measured in 32 members of two mountaineering expeditions prior to their departure. Both teams made rapid ascents to their base camps at 5200 m and 4300 m and remained there for at least four days. Symptom scores for acute mountain sickness (AMS) were collected daily for these four days. There was a range of AMS from the unaffected to severe sickness requiring evacuation, but there was no correlation between AMS scores and HVR or CO2VR. When ascent to altitude takes a day or more, HVR (measured at sea level) is probably not the major determinant of ventilation and from our studies does not predict susceptibility to AMS. The rate of respiratory acclimatization is probably more important.

Morton's metatarsalgia (plantar digital neuritis) is a syndrome caused by the development of a neuroma in a digital nerve just proximal to its point of bifurcation. Severe neuralgic pain in the distal part of the sole is referred to the corresponding two toes. The treatment of this syndrome with the injection of a local anesthetic and methylprednisolone is discussed.

The morbidly obese are known to have impaired respiratory function. A prospective study of the changes in lung volumes, carbon monoxide transfer, and arterial blood gas tensions was undertaken in 29 morbidly obese patients before and after surgery to induce weight loss. Before surgery the predominant abnormality in respiratory function was a reduction in lung volumes. These increased towards normal predicted values after weight loss, with significant increases in functional residual capacity, residual volume, total lung capacity, and expiratory reserve volume. The increases ranged from 14% for total lung capacity to 54% for expiratory reserve volume. After weight loss had been induced the smokers showed mild hyperinflation and air trapping. Resting arterial blood gas tensions improved, with a rise in arterial oxygen tension from 10.63 to 13.02 kPa and a fall in arterial carbon dioxide tension from 5.20 to 4.64 kPa. There was no correlation between weight loss and the changes in blood gas tensions or lung volumes. Loss of weight in the morbidly obese is thus associated with improved lung function. The effects of smoking on lung function could be detected after weight loss, but were masked before treatment by the opposing effects of obesity on residual volume and functional residual capacity.

A family is described in which the father, son, and daughter have spondylometaphyseal dysplasia, consistent with an autosomal dominant pattern of inheritance. Radiologic changes spanning a period from 4 months to 31 years are described. Platyspondyly and metaphyseal deformity predominate. The severity of the radiologic changes is variable.

Clinical, radiological, and genetic features are described in 3 patients with hypochondroplasia. Early recognition of this disorder is possible from the abnormal body proportions with short limbs and lumbar lordosis without facial stigmata of achondroplasia. Radiological confirmation is possible provided a full skeletal survey is made. Two of our patients had a large head.