Recognizing an index case of type 1 neurofibromatosis.

Neurofibromatosis is a relatively common autosomal dominant disorder with variable penetrance. The disorder usually presents in childhood. Hallmarks of type 1 neurofibromatosis are café-au-lait macules and neurofibromas. Neurologic complications include mental retardation, learning disabilities and seizures. Tumors of the eighth cranial nerve, as well as other intracranial and spinal neoplasms, are the typical lesions in type 2 neurofibromatosis. Both forms of neurofibromatosis have a highly variable course and may result in progressive neurologic deterioration, disfigurement and impingement syndromes. In the 50 percent of cases that represent new mutations, diagnosis may be delayed if the physician is not familiar with the salient features of the disorder. Thorough initial evaluation, genetic counseling and close follow-up are important aspects of management.     

Involvement of Cerulospinal Glutamatergic Neurotransmission in Fentanyl-induced Muscular Rigidity in the Rat

Background: Investigators in the authors' laboratory previously established the critical participation of the cerulospinal noradrenergic pathway in muscular rigidity elicited by fentanyl. The identification of colocalization of glutamate with tyrosine hydroxylase in most locus ceruleus neurons suggests a role for cerulospinal glutamatergic neurotransmission in fentanyl-induced muscular rigidity. This suggestion and the subtype(s) of glutamate receptors involved were investigated here.

Methods: Electromyographic signals activated by bilateral microinjection of 2.5 micro gram fentanyl into the locus ceruleus were recorded differentially from the left sacrococcygeus dorsi lateralis muscle of adult male Sprague-Dawley rats. The effect of intrathecal administration at the lower lumbar spinal cord of various N-methyl-D-aspartate (NMDA) and non-NMDA receptor antagonists or agonists on this index of muscular rigidity was studied. Rats were under mechanical ventilation, and intravenous infusion of ketamine (30 mg [center dot] kg sup -1 [center dot] h sup -1) was maintained until 10 min before fentanyl was administered.

Results: Microinjection of fentanyl bilaterally into the locus ceruleus increased the root mean square and decreased the mean power frequency values of electromyographic signals. The efficacy of fentanyl to elicit muscular rigidity in this manner was significantly reduced by previous intrathecal administration of either 6-cyano-7-nitroquinoxaline-2,3-dione (CNQX), (+)-5-methyl-10,11-dihydro-5H-dibenzo[a,d]cyclohepten-5,10-imine maleate (MK-801), D-(-)-2-amino-5-phosphonovaleric acid (AP5), or (+/- (CPP). Intrathecal administration of kainic acid or NMDA also resulted in significant electromyographic activation.     

Nutrition Management of Patients with Epidermolysis Bullosa

Epiderrnolysis bullosa (EB), a heterogeneous group of rare, inherited disorders, is manifested by recurrent blistering of the skin induced by the slightest trauma. Little information exists regarding the nutrition management of patients with EB. This study presents information on growth, identifies potential nutrition problems, and provides guidelines for nutrition management of persons with EB. Eighty patients attending a dermatology clinic for EB patients are described. Severity of disease ranged from mild blistering of the knees, elbows, and feet to extensive blistering and scarring of the skin and entire gastrointestinal tract. Of the 18 children with EB simplex, which is a mild form of the disease, 4 (22%) were at nutritional risk. None of the 13 adults with EB simplex were underweight and 8 (62%) were overweight. Of the patients with the more severe forms of EB, 27 of the 35 (77%) children with dystrophic EB and 4 of the 7 (57%) children with junctional EB were at risk for malnutrition. Of the 7 adults with dystrophic EB, 6 (86%) were underweight. Common nutrition problems included protein-energy malnutrition, chewing and swallowing problems, constipation, anemia, and vitamin/mineral deficiencies. When nutrition care protocols address these problems, growth, development, and nutritional status can improve. For those with severe nutrition problems, gastrostomy feeding or similar nutrition therapies should be considered. J Am Diet Assoc. 1995; 95:575-579.     

Endoscopic transthoracic sympathectomy for idiopathic upper limb hyperhidrosis

A 5-Year experience of 51 endoscopic transthoracic dorsal sympathectomies for idiopathic palmar hyperhidrosis in 26 patients is presented. Fifty-two percent complained of excessive sweating over their hands, 28% of axillary sweating and 20% over both areas, with a mean duration of 10 years. The second, third and fourth thoracic ganglia and their interconnecting fibres on the affected side were ablated using diathermy cautery. Over a mean follow up time of 26 months, this procedure was successful in curing or improving intractable sweating in 92%. However, axillary sweating was less well controlled than in the palms with 20% of patients describing residual wetness in the axilla. Compensatory sweating (75%) and gustatory sweating (48%) were the commonest side effects; despite this, most patients were satisfied with the functional and cosmetic outcome. Other complications included a temporary Horner's syndrome in one patient, a pneumothorax in the immediate post-operative period in another and a unilateral non-infective reactionary pleural effusion in a third. Two patients developed recurrence of palmar hyperhidrosis within 6 months of surgery. One has been successfully treated by re-operation on the affected side. All patients complained of mild to moderate interscapular chest pain which was easily controlled by non-steroidal anti-inflammatory agents, and resolved within 7–10 days post-operatively. The technique of endoscope transthoracic sympathectomy is effective, relatively simple to perform and usually requires only an overnight stay. It is recommended as the surgical treatment of choice for upper limb hyperhidrosis unresponsive to conservative measures.     

Eighteen-month Coronal Caries Incidence in North Carolina Older Adults

In this longitudinal study of a random sample of North Carolinians over the age of 65 and living in their homes, 325 blacks and 280 whites were examined and interviewed 18 months after baseline examinations. Coronal caries incidence was greater among whites than blacks. The increment due to teeth becoming root fragments were similar for both races; however, there were more newly crowned teeth among whites. Newly crowned surfaces were not used as part of the caries increment in logistic regression models to investigate potential risk predictors. For blacks, caries development over the 18-month period was associated with a higher lactobacillus score and more coronal caries at baseline, more previously filled coronal surfaces, and lack of active membership in clubs or other groups. For whites, having no self-reported tooth sensitivity, having a lower socioeconomic index score, taking antihistamine medications at baseline, and having the perception of more problems after the age of 40 than before were all associated with the development of coronal caries.     

Family system test (FAST): Are parents' and children's family constructs either different or similar,or both?

Perceptions of family cohesion and hierarchy structures were assessed by theFamily System Test (FAST), a clinically-derived figure placement technique. Parents (N=140) and their preadolescent offspring (N=70) completed typical and conflict representations in individual as well as group settings. Typical representations were characterized by balanced family structures (i.e. cohesive and moderately hierarchical) and those displaying conflict situations showed predominantly unbalanced patterns. FAST portrayals were related to respondent (mother vs. father vs. child). Fathers represented typical family relations as balanced more often than mothers. Regarding conflict representations, children were more likely than fathers to portray the family as unbalanced. However, analyses of representations of the same family (i.e. intra-family comparisons) indicated that all respondents differed in their perceptions and, that fathers' typical portrayals showed most often the same structure as those done by the family members as a group.     

Modified Kalish osteotomy: A simple approach to minimizing proximal dorsal stress risers

Proximal dorsal stress risers are a potential complication to the Kalish osteotomy. The authors describe a modification to this osteotomy that is simple and effective. Since performing the wing-clip modification, there have been no observed stress risers.     

Identification of Alcohol Abuse and Alcoholism with Biological Parameters

The prevalence and incidence of heavy alcohol consumption are major problems which have been increasing in many countries in recent years. It is crucial for physicians to consistently identify early drinking problems as well as the various end disease states in order to minimize suffering and maximize recovery. This paper reviews the evolutionary development of clinical tools for detection of alcohol abuse. The focus is primarily on clinical/biochemical indicators of alcohol abuse, emphasizing but not limited to changes in hematological characteristics, liver enzyme activity, lipids, immune function factors, hormones, neurological factors, and some physically based tests. Use of test combinations and sophisticated statistical analysis of pattern changes in test batteries evidence increased diagnostic efficiency.