Haplotype analysis of families with erythropoietic protoporphyria and novel mutations of the ferrochelatase gene.

Ferrochelatase, the enzyme that catalyzes the terminal step in the heme biosynthetic pathway, is the site of the defect in the human inherited disease erythropoietic protoporphyria. Molecular genetic studies have shown that the majority of erythropoietic protoporphyria cases are transmitted in dominant fashion and that mutations underlying erythropoietic protoporphyria are heterogeneous. We performed haplotype analysis of American families that shared recurrent ferrochelatase gene mutations yet had forbearers from several European countries. This was to gain insight into whether these mutations represent mutational hotspots at the ferrochelatase gene, or propagation of ancestral alleles bearing the mutations. Two recurrent mutations were found to occur on distinctive chromosome 18 haplotypes, consistent with being hotspot mutations. On the other hand, we found three sets of two unrelated families that shared the same haplotypes bearing these mutations, which could reflect geographic dispersion of ancestral mutant alleles. In addition, we report novel mutations associated with erythropoietic protoporphyria: g(+ 1)-->t transversion of the exon 4 donor site, g(+ 1)-->a transition of the exon 6 donor site, and t(+ 2)-->a substitution at the exon 9 donor site; these mutations are predicted to cause splicing defects of the associated exons. We also identified a g(+ 5)-->a transition of the exon 1 donor site in four unrelated families with erythropoietic protoporphyria, and a G(- 1)-->A substitution at the exon 9 donor site in an additional family. The probability that these sequence changes are normal polymorphisms was virtually excluded (p < 0.0001) by their absence in 120 ferrochelatase alleles from 30 normal subjects and 30 individuals with manifested erythropoietic protoporphyria with or without a known mutation.

Granular cell myoblastoma: another unusual esophageal lesion.

The case is presented of a 48-year-old woman with esophageal granular cell myoblastoma who was treated by local excision. A review of the literature is also included. So far as we can determine, this is the thirteenth such case reported.

Biocidal braided sutures.

Once sutures become contaminated it is difficult for local tissue defenses or antibiotics to eliminate the bacteria and prevent infection. Impregnation of sutures with antibiotics before implantation is one way to prevent bacterial seeding of the suture surface. In this study, braided silk and Dacron sutures were impregnated with the antibiotic complex, neomycin palmitate. Using our standard wound model in the mouse, the efficacy of these biocidal sutures was determined in the presence of Staphylococcus aureus, Escherichia coli, Proteus mirabilis, and Pseudomonas aeruginosa. Implantation of these biocidal sutures into tissue contaminated with 10(7) organisms resulted in substantially decreased numbers of bacteria as compared with that of tissue receiving control sutures. In most cases, the tissue bacterial counts in the presence of biocidal sutures were also considerably lower than that for similarly contaminated tissue without a suture. Consequently, the presence of the neomycin palmitate eliminated the infection-potentiating effect of the suture. The therapeutic benefit of the biocidal sutures was related to the dose of antibiotic complex and was not adversely affected by delaying suture implantation.

A bimodal preventive intervention for disruptive kindergarten boys: its impact through mid-adolescence.

Disruptive kindergarten boys from inner-city low socioeconomic neighborhood schools were randomly allocated to a preventive intervention and control condition. The 2-year prevention program included a home-based parent training component and a school-based social skills training component. Participants were followed up to mid-adolescence. Results indicated that a significantly greater percentage of treated boys remained in an age-appropriate regular classroom up to the end of elementary school and that the treated boys reported significantly less delinquent behaviors at yearly assessments from 10 to 15 years old, compared with controls. The preventive intervention appeared to have a significant long-term impact on the social development of the disruptive kindergarten boys. Earlier and more intensive intervention may be necessary for some cases, whereas for all disruptive boys, booster sessions between 12 and 15 years of age are recommended.

Pharmacokinetics of a new skin wound cleanser.

Iodophors are effective germicidal agents that have prolonged antiseptic activity in contaminated wounds. A nontoxic surfactant, Pluronic F-68, has been used to formulate a safe and effective iodophor. The parameters necessary to regulate the activity of the iodophor were studied to develop a potent, yet safe bactericidal solution for use in human subjects. The parameters found to be most important were the pH of the solution and the concentration of sodium iodide. Lowering the pH of iodophors increased their stability and antiseptic activity. The free iodine in iodophor solutions prepared with a low pH is predominantly the highly biocidal diatomic iodine (I2). The concentration of iodide regulated the equilbrium of the dissolved iodine between its free and complexed form. Increasing the concentration of iodide in the iodophor lowered the amount of free iodine in solution and enhanced the concentration of the complexed iodide. It is the level of free iodine in an iodophor that determines its antiseptic activity. Low levels of free iodine yielded iodophors that had a slow bacterial kill rate but a prolonged duration of action. Manipulation of these variables permitted the generation of iodophors that varied considerably in their kill rates of bacteria and their duration of antibacterial activity. Iodophors tested in this study demonstrated a distinct superiority to noncomplexed iodine solutions (tincture and aqueous iodine solutions) as wound and skin cleansers.

Colostomy. Intraperitoneal or extraperitoneal closure?

Forty-three patients who underwent intraperitoneal closure of colostomy are reported on. Complication rates of 4.6 per cent for wound infection and 4.6 per cent for fecal fistulas appear significantly lower than the 10 to 21 per cent complication rates reported for colostomy closure using other technics.

Mechanical performance of sutures in surgery.

In this study, we have compared the recommended configuration of a knot with specified sutures as ascertained by mechanical performance tests to that employed by a group of board-certified surgeons. Agreement between the surgeon and the results of the test was encountered in only one fourth of the instances. In another one fourth of the cases the surgeon overestimated the number of throws required for a knot to reach knot break. This additional suture material further handicaps the host's defenses, thereby inviting infection. Surgeons employed knots that untied without reaching knot break in the remaining half of the cases. The holding power of many of the knots that untied was substantially less than that of knots reaching knot break. On the basis of the study, it is recommended that results of the mechanical performance tests be made readily available to the surgeon so that his patient can receive maximal benefits from the knotted suture with the least damage to the host's defenses.

Antimicrobial prophylaxis of contaminated tissues containing suture implants.

Neomycin sulfate was the only antibiotic tested that significantly reduced the incidence of infections around suture implant sites. The therapeutic efficacy of this antibiotic was related to the chemical and physical configuration of the sutures.

Mechanical performance of surgical sutures.

A comprehensive analysis of the mechanical performance of sutures has been made to provide information concerning the reliability and security of knotted sutures. The tests utilized in this analysis were designed to be easily reproduced by other investigators. The construction of the knot and the knot performance analysis were undertaken utilizing an Instron Tensile Tester. The mechanical reliability of each knotted suture was determined by measuring the number of throws to reach knot break, the expected slippage of the knot when it reaches knot break, and the maximal holding force at knot break. On the basis of these measurements, recommendations are made for the use of a suture at operation.

Rehabilitation for developmental disabilities.

This article describes the role of physical and occupational therapists in the rehabilitation of children with a variety of developmental disabilities. Emphasis has been placed on alerting the pediatrician to the types of assessment and treatments provided in order to encourage early referral of clients.

Nonepithelial tumors of the stomach--gastric leiomyomatous tumors: a clinical review.

Gastric nonepithelial tumors of clinical significance are infrequently encountered. These tumors make up less than 3 percent of all gastric tumors and are predominantly composed of growths that derive from the gastric smooth muscle. The malignant nature of those leiomyomatous tumors encountered might be obvious by virtue of liver or peritoneal spread or organ invasion at the time of surgery. When this is not the case, a high frequency of mitotic figures and cell necrosis on histologic analysis, while not without exception, correlates best with malignant potential.Hemorrhage, acute or chronic, features prominently as a presenting symptom. The upper gastrointestinal series often suggests the correct diagnosis. The tumors, unlike carcinomas, exhibit little tendency to lateral mucosal and submucosal spread and to lymph node metastasis; consequently, appropriately conservative gastric resectional procedures generally suffice for treatment. Currently, surgery appears to be the only useful modality for the treatment of primary, as well as recurrent, disease.

Segmental ulcerative colitis: a case report and review of the literature.

Ulceractive colitis, a chronic diffuse inflammatory disease affecting the mucosa of the colon and rectum, is characterized by ulcerations with bleeding, mucosal crypt abscesses, and inflammatory pseudopolyps. Classically, it begins in the rectosigmoid but often extends to involve the entire colon. It is uncommon to find segmental involvement sparing the rectosigmoid.A case of segmental ulcerative colitis is presented with a brief comparison of segmental ulcerative colitis and segmental Crohn's colitis.

Hidradenitis suppurativa: review of the literature and management of the axillary lesion.

Hidradenitis suppurativa is a suppurative inflammatory disease of the apocrine sweat glands. It affects the apocrine gland bearing regions, the axillae being the most common site. It causes considerable morbidity and has several complications. The etiology is unknown and there is no standard method of treatment. A comprehensive review of the literature is presented demonstrating a paucity of information about this disease. The authors' experience and the management of the axillary lesion is outlined. Radical excision of the apocrine gland bearing area with split thickness skin graft (STSG) after one week is the method of choice. A reinforced sling is used for arm immobilization after grafting. The predictability of this technique makes it the preferred method of treatment. Also, more effort is urged towards better understanding of this neglected but serious health problem.

Pancreatic abscess: a major complication of cystogastrostomy.

Twelve cases of pancreatic abscess, managed at two hospitals in the District of Columbia, are analyzed. Forty-two percent of cases followed acute pancreatitis and infected pancreatic pseudocysts without previous surgical intervention. In 58 percent of the patients, pancreatic abscess was a complication of internal drainage of pancreatic pseudocysts. A discussion of management problems is presented.

Traumatic diaphragmatic hernias: analysis of six cases.

During three years, from January 1975 through December 1977, the authors saw six cases of traumatic left diaphragmatic hernias, all of whom survived. All were males aged 17 to 56 years, with an average age of 30 years. Four (67 percent) of the cases resulted from blunt abdominal trauma while two (33 percent) were due to stab wounds of the left lower chest. Admitting chest x-ray findings were diagnostic for all acute hernias due to blunt trauma and for all hernias presenting with a delayed interval. Digital exploration of all penetrating lower chest wounds is recommended by some authors if exploratory laparotomy is not contemplated. Our preferred approach for the repair of the hernias includes (1) laparotomy for all acute cases, (2) thoracotomy for delayed cases, and (3) separate abdominal thoracic incisions whenever a combined approach is considered necessary. The repair should be carried out in two layers with nonabsorbable sutures.

Psychosocial coping resources in elementary school-age children of divorce.

The psychosocial coping resources of elementary school-age children living in the sole custody of a divorced single parent were compared with those of their peers living with nondivorced parents. Children of divorced parents were found to have lower levels of self-efficacy, self-esteem, and social support, and less effectual coping styles. Contact with the noncustodial parent was found to have a positive influence on their attitudes toward divorce.

Adolescent motherhood: an application of the stress and coping model to child-rearing attitudes and practices.

In the past two decades there has been a significant increase in adolescent pregnancy and childbearing across North America. Research has shown that both mother and child remain at high risk for physical, psychological, social, and economic consequences of premature parenthood and its accelerated role transition. Although considerable research has examined adolescent parenthood, the literature lacks theoretical integration. The stress and coping model is proposed as a theoretical context to explain developmental outcomes of adolescent motherhood. This model suggests that diminished psychological and social coping resources of adolescent mothers influence negative parent-child interactions and result in ineffective parenting behaviours concomitant with parenting stress, thus increasing the likelihood of high risk outcomes for both parents and children.

Evaluation of a rapid, point-of-care test device for the diagnosis of hepatitis C infection.

BACKGROUND: Despite considerable evolution in the quality of laboratory-based testing for detection of HCV, the availability of rapid, point-of-care tests may increase diagnoses by increasing opportunities for testing outside of traditional laboratory settings. OBJECTIVES: We evaluated the performance of a new, rapid HCV test that can be used with venous blood, finger stick blood, serum, plasma, or oral fluid and compared it to FDA-approved laboratory methods. STUDY DESIGN: HCV positive subjects as well as subjects at low risk for HCV were tested with the rapid test using all 5 specimen types and results compared to FDA-approved laboratory methods. In addition, performance was assessed in commercially available seroconversion panels. RESULTS: Sensitivity and specificity of the rapid test was equivalent to laboratory EIA and performance was comparable across all 5 specimen types. CONCLUSIONS: The OraQuick HCV Rapid Antibody Test appears suitable as an aid in the diagnosis of HCV infection.