Search PubMed⌕ Search

Biomedical subjects

G B Stickler

Publications and source records attributed to G B Stickler.

At least 19 recordsLinked to original sources
PubMed1991

Parents' worries about children compared to actual risks.

To investigate the concerns of parents, questionnaires were given to the "first 100" parents waiting for their child's pediatric appointment in four different medical settings. They were asked to rate whether they worry "frequently," "occasionally," or "not at all" about 17 physical health issues, 16 psychosocial problems, 7 possible injuries, 4 instances of victimization, and 4 questions about parents' ability to provide discipline, affection, values and financial support. The response rate was 94%; 89% were completed adequately for analysis. Parental concerns were compared to data from the National Center for Health Statistics about the statistical likelihood of the risks occurring. Ear infections (65%) were the most common health concern, followed by reaction to immunization (57%), common colds (51%), and cancer (50%). The greatest psychosocial concern was about children watching too much television (53%), followed by concerns about the quality of day care (50%). Three-quarters of parents worry about car accidents and 72% worry about abduction of their children. Parents worry significantly about their own contribution to their child's welfare: appropriate discipline (73%), affection (56%), values and being a role model (55%), and financial support (66%). Parents who had not completed high school worried more than parents who had more than a high school education (P less than 0.03).

Adolescent↗
PubMed1991

Klippel-Trenaunay syndrome: the risks and benefits of vascular interventions.

Our experience with Klippel-Trenaunay syndrome (KTS), a rare congenital malformation, has increased considerably in recent years and now includes 144 patients (65 male and 79 female patients). Hemangioma was present in 137 patients (95.1%), varicosity in 110 (76.4%), and hypertrophy of the soft tissues or bones in 134 (93.1%). In most patients (71.5%) the disease involved one lower extremity. Diagnostic workup included roentgenogram to document limb length discrepancy, noninvasive arterial and venous evaluation, contrast venography, and nuclear magnetic resonance imaging. Most patients did well without treatment or with elastic compression only. Surgical treatment for the vascular malformation in KTS is rarely needed and it continues to be controversial. To evaluate the risks and benefits of vascular interventions, we examined in detail the clinical histories of nine patients who in the last decade underwent operation for a vascular malformation of the lower extremity. In seven patients we removed varicose veins or resected hemangioma of the lower extremity. Although none was cured, all five who underwent resection of varicose veins and one of the two patients who underwent resection of a hemangioma improved. Two additional patients, however, who underwent resection of varicose veins in another institution had worsening of the symptoms. In one patient we performed deep venous reconstruction for atresia of the superficial femoral vein, using the contralateral saphenous vein. Such operation in KTS has not been reported previously. The patient has a patent graft with a competent valve and clinical improvement 6 months after the operation. Although patients with severe chronic venous insufficiency, disturbing cosmetic appearance, or complications of hemangioma may benefit from surgical treatment, detailed preoperative imaging of the extremity and pelvis with magnetic resonance imaging and contrast venography is needed to decrease complications. Rarely, reconstruction for atresia or hypoplasia of the deep veins may be needed.

Adolescent↗
PubMed1991

Anomalies of the fingers and toes associated with Klippel-Trenaunay syndrome.

Klippel-Trenaunay syndrome is a rare congenital malformation characterized by a large angiomatous nevus; hypertrophy of soft tissue or overgrowth of bone, or both; and venous varicosities. The cases of 108 patients who had a diagnosis of this syndrome between 1956 and 1990 were reviewed. One hundred and twenty-six anomalies were found in twenty-nine patients, each of whom had one to thirteen malformations of the fingers or toes, or both. The ratio of female patients to male patients was approximately two to one. Twenty-six patients had macrodactyly affecting one to six digits; nine, syndactyly involving two or more digits; five, metatarsus primus varus; two, clinodacytly; two, polydactyly; one, camptodactyly; and one, a congenital trigger finger. Thirty-three of the 126 anomalies were in extremities that had no nevi, varicose veins, or generalized hypertrophy.

Adolescent↗
PubMed1990

Autosomal dominant granulomatous arthritis, uveitis, skin rash, and synovial cysts.

In 1985, Blau reported a family with 11 members in four generations affected by granulomatous arthritis, iritis, skin rash, and periarticular synovial cysts. We report a second family with these abnormalities, thereby confirming this syndrome as a distinct familial entity with transmission compatible with autosomal dominant inheritance. Affected members in our family included a mother and two daughters. Disease onset was at 10 months to 8 years of age. Each had uveitis, symmetric polyarthritis, and synovial cysts overlying the ankle and wrist joints. In addition, both daughters had an intermittent generalized erythematous papular rash that on biopsy revealed noncaseating granulomatous infiltration. All three patients improved during alternate-day steroid therapy. Recognition of this disorder as distinct from other, more common causes of arthritis is important because of the apparent autosomal dominant transmission and because of the excellent responses to low-dose steroid therapy.

Adult↗
PubMed1989

Hypophosphataemic rickets: final height and clinical symptoms in adults.

The heights and symptoms of 52 patients, aged at least 18 years, with X-linked hypophosphataemic rickets were analysed retrospectively; 47 had been seen as children and 5 were adult at their first examination. 2 patients were lost to follow-up. 3 patients had died but their adult heights were known. There was no evidence that any form of treatment (ie, vitamin D in high doses, vitamin D plus phosphate supplements, or calcitriol plus phosphate) had any effect on adult height, symptoms, or alkaline phosphatase levels. There was a negative relation between adult height and the number of osteotomies undergone. The complications of treatment, such as renal failure, which occurred secondary to vitamin D intoxication in 3 patients in their twenties, may outweight any possible benefits. Until a treatment is established as effective in controlled trials, it may be better that these patients remain untreated.

Adolescent↗
PubMed1989

The pediatrician as a consultant.

The time has come for pediatricians to assert themselves as consultants. They should be able to take care of most illnesses and children. The pediatrician should decide when help by a subspecialist is needed. The parents should not be expected to be the "brokers" for various specialty services. A tentative list of conditions every pediatrician should be able to handle with confidence is included.

Body Height↗
PubMed1989

Astasia-abasia. A conversion reaction. Prognosis.

Twenty-seven children and adolescents were diagnosed as having astasia-abasia on the basis of a conversion reaction between 1965 and 1979. Follow-up information was obtained by questionnaire or a telephone interview from all but one patient over periods ranging from 5 to 22 years. Twenty-two patients thought that they were in good health, but nine patients had some minor complaints, such as leg weakness or stomach pains. Major symptom substitution had not occurred. No organic illness had been missed. One patient was in psychiatric care, two additional patients seemed to have continued mental problems, and one patient was in jail after having killed his parents.

Adolescent↗
PubMed1988

Gastrostomy dependence in two constitutionally short children.

We describe the medical odyssey of two infants who turned out to be constitutionally short. The measurements of length gradually came to rank below the fifth percentile during the first 18 months of life. Numerous tests were performed, and the diagnosis of gastroesophageal reflux led to fundoplication. The concept that higher energy intakes result in greater increases in length led eventually to gastrostomy. Increases in weight during gastrostomy feedings had no effect on growth in length. It was very difficult to convince the parents that the gastrostomies were not necessary. The parents had in fact become "gastrostomy dependent." The vague concept of "failure to thrive" proved to be misleading and obscured the knowledge that constitutionally short children can fall below the fifth percentile in length at any time before the age of 2 or 3 years.

Body Height↗
PubMed1988

Long-term prognosis for children with nephrotic syndrome.

Follow-up survival and health information were obtained, after a median of 27.5 years, from 132 patients who had been seen originally as children with nephrotic syndrome between 1951 and 1967. Ninety seven patients were alive. Recurring edema or proteinuria, or both, persisted in 15 percent of those still alive. Eight of 11 parous women reported relapses during pregnancy. There was no apparent increase in malignancies, atopic diseases, clinical defects in cell-mediated immunity, or cardiovascular diseases. Twenty two patients (17%) died of renal causes between 3 months and 8 years after the onset of nephrotic syndrome. Steroid resistance was the presenting feature universally predictive of a poor outcome; nine of the 11 such patients died and the other two are now receiving hemodialysis. Hematuria was present initially in 41 percent of the patients who died of renal causes, compared with 14 percent of those still alive. Hypertension was noted on the first examination in 22 percent of those who died of renal causes, compared with 10 percent of those alive.

Adolescent↗
PubMed1988

Congenital hepatic fibrosis: evolving morphology.

A clinicopathologic study of congenital hepatic fibrosis in 21 patients confirms a strong association with autosomal recessive renal polycystic disease. The liver specimens were subclassified into two groups according to the severity of fibrosis, showing typical hepatic abnormalities in young infants (mean age 0.3 years) and increased hepatic fibrosis in older patients (mean age 19.6 yr) (p less than 0.02). Apparent progression to perilobular fibrosis with parenchymal nodularity occasionally resembled cirrhosis when the nodules had a regenerative appearance because of rounded contours and inapparent central veins. Progression of fibrosis was observed in second biopsy specimens from 2 cases, but not in that of a 3rd, suggesting that factors other than the heritable disorder itself may be responsible for evolving morphology. Identifiable factors that may have contributed to increased fibrosis included localized intrahepatic biliary obstruction and biliary sepsis with suppuration. A factor possibly contributing to the pathogenesis of biliary sepsis was intrahepatic biliary ectasia, i.e., Caroli's disease, which appears to be one morphologic expression of CHF. This study shows that the hepatic abnormality evolves over time and that it may be altered by secondary complications.

Bile Duct Diseases↗