New source of MeV negative ion and neutral atom beams.

The scenario of "electron-capture and -loss" was recently proposed for the formation of negative ion and neutral atom beams with MeV kinetic energies. However, it does not explain why the formation of negative ions in a liquid spray is much more efficient than with an isolated atom. The role of atomic excited states in the charge-exchange processes is considered, and it is shown that it cannot account for the observed phenomena. The processes are more complex than the single electron-capture and -loss approach. It is suggested that the shell effects in the electronic structure of the projectile ion and/or target atoms may influence the capture/loss probabilities.

Pair creation in collision of γ-ray beams produced with high-intensity lasers.

Direct production of electron-positron pairs in two-photon collisions, the Breit-Wheeler process, is one of the basic processes in the universe. However, it has never been directly observed in the laboratory because of the absence of the intense γ-ray sources. Laser-induced synchrotron sources emission may open a way to observe this process. The feasibility of an experimental setup using a MeV photon source is studied in this paper. We compare several γ-ray sources and estimate the expected number of electron-positron pairs and competing processes by using numerical simulations including quantum electrodynamic effects.

The oto-palato-digital syndrome, proposed type II.

We present a follow-up of the infant with oral, cranial, facial, and limb abnormalities described by us in 1976. Since then, several other very similar cases have been reported. We propose that this syndrome be called the oto-palato-digital syndrome, type II.

Brachydactyly C, short stature, and hip dysplasia.

Short stature may be a component of the brachydactyly C syndrome. A family is presented in which the propositus has brachydactyly C, short stature, and hip dysplasia.

A new acro-cranio-facial dysostosis syndrome in sisters.

Two sisters born to consanguineous parents had a syndrome of short stature, acrocephaly, hypertelorism, proptosis, ptosis, down-slanting palpebral fissures, high nose bridge and anteverted nares, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, sensorineural and conductive deafness, proximally placed first toes and digitalized thumbs, bulbous digits, metatarsus adductus, and pectus excavatum. Radiological abnormalities included craniosynostosis, increased mandibular angle and antegonial notching of mandible; hypoplastic first metacarpals and metatarsals; hypoplastic distal phalanges; partial duplication of the distal phalanx of the thumb; malformed malleus and incus; tall lumbar vertebrae, increased interpedicular distance, and posterior scalloping; flared iliac wings, narrow supraacetabular regions, acetabular "dysplasia," and coxa valga. Autosomal recessive inheritance is suggested.

Variable expression of autosomal recessive polycystic kidney disease and congenital hepatic fibrosis within a family.

Blyth and Ockenden [1971] assigned patients with autosomal recessive polycystic kidney disease (ARPCKD) to 4 discrete groups (perinatal, neonatal, infantile, juvenile) on the basis of the age of presentation. They and others speculated that at least 4 genes were responsible for what they considered to be closely related, but different conditions. These views have gained wide but not universal acceptance. Some workers have insisted that the perinatal and neonatal "forms" of ARPCKD differ fundamentally from the juvenile "form." However, others have proposed that ARPCKD-CHF (congenital hepatic fibrosis) and CHF-ARPCKD are manifestations of the same disease with variation of expression in a kindred. We report on a patient who presented at birth (1979) with ARPCKD and respiratory distress. He died at 18 hr. An older sib presented at 16 yr in 1984. She had no symptoms, but her mother wanted reassurance that the daughter did not have a condition similar to that of the deceased sib. Blood pressure was 120/80 mm Hg and there was hepatosplenomegaly. A diagnosis of renal tubular ectasia and CHF was made by ultrasonography, radiologic studies, and a liver biopsy. The evidence from families such as this favors the concept that ARPCKD and CHF presenting as Blyth and Ockenden's perinatal form, and CHF and renal tubular ectasia as their juvenile form, are manifestations of the same genetic disorder, and that the different manifestations are more likely variations in expression than the results of different mutant genes. The manifestations in this family add weight to the growing body of evidence that intrafamilial variability may occur, not only in autosomal dominant conditions, but also in autosomal recessive disorders.

Autosomal dominant inheritance of small kidneys.

We report herein bilateral small kidneys found in a mother and her two sons. This was associated with slowly progressive chronic renal failure. None of the patients had any of the associated clinical manifestations of recognized syndromes in which there is autosomal dominant inheritance of bilateral small kidneys (e.g., branchio-oto-renal syndrome). Nor did they have the clinical symptoms commonly associated with medullary cystic kidney-juvenile nephronophthisis. However, there were some manifestations that have been reported in familial hypoplastic kidneys with glomerular cysts. Without wanting to claim that this is a "new" syndrome, we are, however, unaware of any reports describing a similar kindred. The importance of this report stems mainly from the fact that a woman with mild to moderate stable chronic renal failure associated with, or caused by, bilateral small dysplastic kidneys gave birth to two sons with the same problem.

Panostotic fibrous dysplasia: a congenital disorder of bone with unusual facial appearance, bone fragility, hyperphosphatasemia, and hypophosphatemia.

We report a boy with unusual facial appearance, melanotic patches ("coast-of-Maine" type), myelofibrosis, recurrent femoral fractures, and widespread fibrous dysplasia of bone. Biochemical findings included raised serum alkaline phosphatase (bone isozyme) and 1,25-(OH)2 vitamin D, and low serum phosphorus levels. Elevated urinary excretion rates of total hydroxyproline, glycylproline, and gamma-carboxyglutamic acid indicated increased turnover of bone matrix. Transiliac bone biopsy showed a dearth of marrow elements, greatly increased bone turnover, and absence of normal trabecular organization. Serial radiographs showed progressive cortical thinning and loss of bony trabeculae. Calcitonin and etidronate treatments had no lasting effect on the progressive bone disease. The term "panostotic fibrous dysplasia" is suggested for this condition.

Unusual case of urethral duplication.

We present a case of unique penile malformation, a child with common prostatic urethra with two normal, double urethras parallel to one another with a bifid glans penis. This case emphasizes how abnormal embryology can contribute to our knowledge of normal development.

Sonographic nomogram of the leptomeninges (pia-glial plate) and its usefulness for evaluating bacterial meningitis in infants.

BACKGROUND AND PURPOSE: To our knowledge, the upper limits of the thickness of normal meninges on neurosonograms are not known. We therefore established a nomogram for sonographic measurements of the leptomeninges (pia-glial plate) and assessed its usefulness in neurosonographic examinations of children with bacterial meningitis. METHODS: The pia mater-cortical glia limitans complex on the surface of the brain and in the sulcus of a frontal gyrus was measured on neurosonograms in 100 infants without meningeal disease in order to establish a nomogram of the thickness of this pia-glial plate, referred to as the leptomeninx. Effects of prematurity, age, sex, and single-layer (surface) versus double-layer (sulcus) measurements were analyzed. Meningeal thicknesses derived from a retrospective analysis of the neurosonograms of 33 patients with purulent meningitis and a prospective study of 22 patients with bacterial meningitis were compared with the nomograms. Clinical outcomes of children with meningeal thickening were compared with those of affected children with normal meninges. RESULTS: The distribution of sulci measurements was significantly asymmetrical around the mean. Statistical data showed no influence of prematurity and sex, but showed surface measurements to be more consistent than sulcal measurements. Older chronological age was related to slightly larger sulci, but did not influence the surface measurements. In children with bacterial meningitis, the surface meninges were less frequently thickened than were the sulci. Sulcal enlargement occurred often in combination with echogenic deposits in the sub-arachnoid space. CONCLUSION: Leptomeninges are best measured on the surface of a gyrus rather than in a sulcus, as the normal thickness of the sulci shows much more variability. Clinical outcome of bacterial meningitis cannot be predicted by presence or absence of meningeal thickening as the only sonographic abnormality.

Acute childhood pyelonephritis: predictive value of positive sonographic findings in regard to later parenchymal scarring.

RATIONALE AND OBJECTIVES: The authors evaluated the importance of positive sonographic findings in acute childhood pyelonephritis. MATERIALS AND METHODS: A total of 290 children (91 boys, 199 girls, aged 4 days to 15 years [median, 394 days]) with clinically suspected acute pyelonephritis underwent initial renal gray-scale ultrasound (US) and dimercaptosuccinate scintigraphic examination within 3 days of onset. A total of 173 patients underwent color or energy US examination. One hundred fifteen children with normal scintigraphic or pathologic findings (other than acute pyelonephritis) were excluded from further study; 170 patients with abnormal scintigraphic findings underwent follow-up scintigraphic scanning 60-90 days later. RESULTS: When pathologic structures other than acute pyelonephritis were not considered, the diagnostic value of gray-scale US was poor, with a sensitivity of 45.5%, a specificity of 86.6%, a positive predictive value of 88.8%, and a negative predictive value of only 40.6%. In regard to future renal scarring, gray-scale US had a positive predictive value of 67.7%, a negative predictive value of 40%, and a likelihood ratio of 1.16. Abnormal Doppler findings helped predict future scarring with a positive predictive value of 85.7%, a negative predictive value of 37.2%, a very low sensitivity of 26.9%, a high specificity of 90.6%, and a likelihood ratio of 2.87. CONCLUSION: Positive US Doppler findings in children with clinically suspected acute pyelonephritis indicate the need for immediate treatment. A positive initial gray-scale US examination does not predict future renal scarring, but a positive Doppler examination indicates a high probability of scarring. Negative gray-scale or Doppler US does not exclude a diagnosis of acute pyelonephritis and it cannot predict an absence of future scarring.

Splenic cysts: aspiration, sclerosis, or resection.

Percutaneous aspiration and tetracycline sclerosis is a safe but temporary therapy of large splenic cysts in children. Between 1985 and 1987, three girls with splenic cysts were seen. Their ages ranged from 5 to 14 years, and the cysts were from 8 to 16 cm in diameter. Despite their large size, all were asymptomatic and were discovered upon physical examination or ultrasound for unrelated conditions. All cysts were avascular by scan and had irregular crenated or smooth walls by ultrasound. Further investigation excluded infectious or parasitic causes. Each cyst was aspirated for diagnosis, and a pigtail catheter was inserted for drainage and sclerotherapy. All needle aspirations resulted in cyst collapse, but in one patient the pigtail catheter insertion was unsuccessful, and in the other two cases, multiple attempts of tetracycline sclerosis failed to obliterate the cysts. There were no other complications. Surgery for the recurrent splenic cysts was performed 3 months to 2 years following the percutaneous procedures. The two patients operated on with 3 months of aspiration underwent successful partial splenectomy and have normal splenic function by ultrasound scan, and absence of RBCs. The third patient had progression of the cystic disease throughout the spleen, and required splenectomy. Pathology confirmed multiseptate congenital mesothelial cysts in the first two patients and massive lymphangiomatosis in the third. In all three cases, percutaneous therapy was safe but did not result in long-term control. In one patient, the cystic disease progressed following sclerotherapy and may have influenced the need for complete splenectomy. Prior manipulation did not adversely affect the dissection and mobilization of the spleens.(ABSTRACT TRUNCATED AT 250 WORDS)

Sonography of neck masses in children: is it useful?

111 patients aged two days to 20 years with neck masses were examined by ultrasound. Results were compared to subsequent histo-pathological or clinical diagnosis. Sonography allowed us to divide neck masses into two groups, a sonospecific group in which an accurate presurgical diagnosis was made in 92%, and a non-sonospecific group. The sonospecific group contained 48 patients and included thyroid masses, cystic hygromas, certain cases of adenopathy and a cervical myelomeningocele. The non-sonospecific group contained 63 patients and included a variety of neck masses such as dermoid cysts, branchial cleft cysts, the majority of cases of adenopathy, hemangiomas, lymphangiomas and various other neoplastic masses. Sonography serves to delineate the extent of neck masses, define the relationship of the mass to the thyroid and major neck vessels and guide fine needle aspiration biopsy.

Unusual facies, arthrogryposis, advanced skeletal maturation and unique bone changes. A new congenital malformation syndrome.

Two strikingly similar infant siblings showed the following pattern of anomalies: unusual cranio-facial appearance, arthrogryposis, advanced bone age of the hips and unique skeletal X-ray abnormalities. They represent a previously unrecognised, fatal malformation syndrome.

Sonographic measurements of the normal bladder wall in children.

The thickness of the bladder wall was measured sonographically in 410 children (1 day to 19 years old) and in 10 adults. None had complaints related to the urinary tract. The bladder wall thickness varied mostly with the state of bladder filling and only minimally with age and gender. The normal bladder wall had a mean thickness of 2.76 mm when the bladder is almost empty and 1.55 mm when it is distended. There is a linear relationship between bladder fullness and bladder wall thickness; the upper limits are 3 and 5 mm for a full or empty bladder respectively.

Sonographic detection of fluid in the cul-de-sac in children--a normal finding?

Fluid in the cul-de-sac was found in 6.7% of ultrasound examinations of the abdomen and pelvis in children aged one day to 20 years. The amount was graded as minimal (+), moderate (++), or abundant ( ). Excluding teenage girls and those clinical situations in which free intraperitoneal fluid was expected (48 children) or could be explained by clinical circumstances (71 children), there remained a group of 65 children in whom no explanation of the usually minimal amount of fluid in the cul-de-sac could be found. A small amount of such fluid is a normal finding in 1.5% to 2% of children of both genders. Follow-up examinations in 16 patients found to have minimal incidental fluid in the pelvis showed repeat findings only in two; in the others no free fluid was demonstrated. A moderate amount of incidental free fluid was not associated with any morbidity: two of seven having a follow-up examination were normal. A large amount of free pelvic fluid, even when found incidentally, should not be considered as normal.

Sonography of intestinal lymphangiectasia.

Real-time ultrasonography was used to evaluate three pediatric patients with biopsy-proven intestinal lymphangiectasia. The sonographic findings were ascites, diffuse bowel wall thickening, mesenteric edema, dilated mesenteric lymphatics, and thickened walls of the gallbladder and urinary bladder. Recognition of the sonographic pattern of intestinal lymphangiectasia is useful since ultrasonography is often the first imaging examination performed in children with abdominal disorders.

Ultrasonography of jejunal intussusception in children.

OBJECTIVE: To describe the ultrasonographic findings in different forms of jejunal intussusception in three children. PATIENTS AND METHOD: Two children with hamartomatous polyps of the jejunum acting as lead points for antegrade jejunoileocolic intussusception and retrograde jejunoduodenogastric intussusception respectively and one child with idiopathic postoperative intussusception were examined by ultrasonography. RESULTS: The findings of the US studies were abnormal and different in each case, depending on the underlying condition and the direction (antegrade or retrograde) of the intussusception. The hamartomatous polyps were seen as hyperechoic solid masses but could not be diagnosed more specifically with US. A target lesion was found in the case of idiopathic postoperative intussusception. The US results prompted the next imaging procedure, air enema in the one patient in whom the intussusception had reached the colon and preoperative barium meal in all of the patients. Surgery was performed without the delay that usually occurs with jejunal intussusception. CONCLUSION: In the appropriate clinical setting, US should be used to look for jejunal intussusception, so that suitable diagnostic gastrointestinal studies can be performed and delay in diagnosis avoided.