Omphalopagus parasite: a rare congenital anomaly

Omphalopagus parasite is a very rare congenital anomaly. Presented here is a case in which an extra truncus was attached to an infant in the region of the epigastrium. The truncus had well-formed extremities, an abdomen, and a hypoplastic thorax. The infant had a small omphalocoele in addition to the truncus. Surgery performed in the neonatal period helped to achieve a successful separation of the truncus from the host.     

Peter's anomaly with congenital aphakia

An Inuit boy was born with microphthalmia and a central corneal opacity of the right globe. Histopathologic examination revealed a central adherent corneal leukoma (Peter's anomaly) as well as absence of the lens. We are not aware of other well documented histopathologic reports of congenital aphakia and Peter's anomaly occurring in the same eye.     

Accessory bone or unusual congenital anomaly

This case study presents a congenital anomaly, diagnosed in a 23-year-old male, not found previously described in the medical literature. It also reviews the current classification systems used to describe congenital anomalies.     

A congenital pulmonary anomaly (hamartoma) in a seven-month-old bovine fetus

A cage was developed which included a squeeze wall for easy handling of the gibbon (Hylobates lar) and which provided gibbon breeding pairs with privacy from others of the same species. Females living in this environment displayed menstrual and vaginal eversion cycles averaging 30 days (range 22-44). Twelve compatible pairs produced eight live infants from 15 conceptions in a 33-month period. Two full term stillbirths, two abortions, and three current pregnancies accounted for the other seven conceptions. Monthly uterine palpations were performed and pregnancy could be detected as early as 27 days after conception. The compatibility of the mating pairs was determined to be the major factor in the natural breeding of gibbons in captivity. This was demonstrated by obtaining only 12 compatible pairs from 22 attempted pairings.     

The team approach in the management of congenital and acquired deformities

This article provides a summary of practices and guidelines for the design and methods used to form interdisciplinary medical teams. Education and organizational resources are discussed with regard to children with congenital anomalies, specifically craniofacial and cleft lip and palate deformities. The team format is recommended to maximize efficiencies and assure a continuum of care in the evolving managed care environment.     

Hemoptysis in a patient with acquired anomaly of the arterial vascularization of the lung

An anomalous systemic pulmonary supply may be acquired and present only one symptom: hemoptysis. The incidence of this pathology is unknown. A case of acquired systemic pulmonary arterialization was observed after surgical intervention of myocardium vascularization with the left mammary artery. The diagnosis was obtained through an arteriography of the left mammary artery. In this case, the therapy consists in ablating the affected parenchyma followed by the interposition of a bovine pericardium patch between the mammary artery and the remaining pulmonary tissue.     

Extracorporeal lithotripsy in patients with acquired or congenital coagulopathies

Post ESWL haemorragic complications are frequent and most patients experience temporary haematuria and focal intrarenal bleeding or perirenal haematoma are detected by NMR or US imaging. By tradition coagulation troubles have been a contraindication for ESWL but literature describes cases of coagulopathic patients treated with ESWL. From January 1992 to July 1993, 4 of our patients with severe haemostatis troubles (severe haemophilia A in two cases, acquired deficit of coagulation factors and mild thrombocytopenia secondary to post-necrotic hepatitis in 1 case and Glanzmann's thrombasthenia in 1 case) underwent ESWL using Dornier HM3 mod. or MPL 9000. An extensive haematological and clinical evaluation pre and post-ESWL with an adequate haematological prophylaxis (transfusion of blood derivatives) has been performed depending on the coagulation disorder. In our patients we did not observe any haemorragic complication and we propose a reappraisal of the contraindications of ESWL in subjects with coagulation disorders: careful evaluation of haemorragic risk factors, by suitable correction measures and close clinical and instrumental monitoring, allows a reduction of the risk of haemorragic complications in coagulopathic patients who undergo ESWL treatment.     

Immunohistochemistry: a prognostic as well as diagnostic tool?

The assessment of proliferating cell populations has been used to aid in the differentiation of benign from malignant neoplasms, and it has been hoped that assessment of proliferation markers and oncogenic determinants holds information regarding prognosis. Various markers, including Ki-67, p53 protein, bcl-2, and proliferating cell nuclear or paraffin-embedded tissue. These determinants may prove useful in understanding the biology of certain neoplasms and may carry prognostic information that influences clinical management. Results in this developing field must always be interpreted in the clinical and histological context. This article reviews the applicability of some commonly available markers to selected skin disorders.     

Is infertility after surgery for cryptorchidism congenital or acquired?

We evaluated whether deletions of the DAZ (deleted in azoospermia) gene, abnormal karyotypes or hypogonadotropic hypogonadism (HH) were demonstrable in infertile men who had undergone surgery in childhood for cryptorchidism with a simultaneous testicular biopsy that demonstrated no or almost no germ cells. In six men with infertility after surgery for cryptorchidism, the adult karyotype and analyses for the DAZ gene, serum follicle-stimulating hormone, luteinizing hormone, and testosterone were performed from a peripheral blood sample. Testicular volume was also measured. All patients exhibited a 46,XY karyotype. There were no deletions of the DAZ-gene, no HH and no testicular atrophy. The infertility was thus not proved to be congenital, and consequently, surgical treatment is indicated before the germ cells disappear from undescended testes. This appears to be before 15 months of age.     

Riluzole as a treatment for amyotrophic lateral sclerosis

INTRODUCTION: The Amyotrophic Lateral Sclerosis (ALS) is a disease characterized by the selective degeneracy of the superior motoneurons of the cortex motor and of the inferior motoneurons at level of the encephalic trunk and spinal marrow. Exist sporadic and familiar forms, being estimated an incidence of 1-2 cases by 100,000 inhabitants. The cause of the neuronal degeneracy is yet unknown, being implied, between other mechanisms, the glutamic exotoxicity is the responsible for the death neuronal. The riluzol is a benzothiazole derivative whose neuroprotector mechanism still it has not been totally clarified, though seems that reduces the neuroexcitatory action of the glutamic acid blocking his transmission. DEVELOPMENT: Two clinical trials have been accomplished with similar characteristics: multicentre, randomized, double blind, and placebo-controlled. Between both studies have been included more than 1,100 patient, obtained significant statistic results in the prolongation of the survival time, however this effect was not going accompanied of an improvement in the muscular force neither of the pulmonary capacity, what is translated in which the riluzol does not modify the quality of life of the patient. The drug presents good tolerance and mild adverse effects and as consequence of this in 1996, the FDA approved his marketing and utilization in the treatment of the ALS. The approval of the riluzol as first agent for the treatment of the ALS has raised an important number of problems about the efficiency and cost of the treatment. CONCLUSION: Though its benefits are modest, it is considered a starting point in the pharmacotherapy of the ALS.     

Functional scintigraphy of the heat in congenital or acquired heart valve diseases

Quantitative nuclear cardiography was applied to 400 patients with valvular heart disease proven by heart catheterisation. The study yielded the following results: 1. The parameters used were directly related to th4 cardiac index, the enddiastolic volume of the left ventricle and the pressures in the pulmonary vascular system. 2. The method proved to be highly sensitive in stating whether there was a hemodynamically effective valvular disease present or not. Differential diagnosis, however, was not possible. 3. The prolongation of the circulation times correlated with the hemodynamic severity of the disease. 4. The method could be used in evaluation of corrective surgery and for follow-up after operation.     

Familial glaucoma iridogoniodysplasia maps to a 6p25 region implicated in primary congenital glaucoma and iridogoniodysgenesis anomaly

Familial glaucoma iridogoniodysplasia (FGI) is a form of open-angle glaucoma in which developmental anomalies of the iris and irido-corneal angle are associated with a juvenile-onset glaucoma transmitted as an autosomal dominant trait. A single large family with this disorder was examined for genetic linkage to microsatellite markers. A peak LOD score of 11.63 at a recombination fraction of 0 was obtained with marker D6S967 mapping to chromosome 6p25. Haplotype analysis places the disease gene in a 6.4-cM interval between the markers D6S1713 and D6S1600. Two novel clinical appearances extend the phenotypic range and provide evidence of variable expressivity. The chromosome 6p25 region is now implicated in FGI, primary congenital glaucoma, and iridogoniodysgenesis anomaly. This may indicate the presence of a common causative gene or, alternatively, a cluster of genes involved in eye development/function.     

Dislocated clavicle fracture with a costoclavicular compression syndrome

Report of a case with dislocated fracture of the clavicle and dysplasia of the first rib with consecutive armplexus paresis and thrombosis of the axillar and brachial vein. In such cases operative treatment is advised.     

The natural alliance of psychology and nursing: Substance as well as practice.

In commenting on the discussion by P. H. DeLeon et al (see record 1986-15482-001) of legal and policy issues that unite psychology and nursing, the present authors also emphasize that both disciplines share a basic focus on human responses and describe the interdisciplinary basis of a university school of nursing. (2 ref) (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Severe bronchial hyperreactivity as a sequel to congenital diaphragmatic hernia

Bronchial hyperreactivity may be a sequel to congenital diaphragmatic hernia (CDH). V/Q-mismatch in these patients may aggravate the condition. A case history is presented of a 20-month-old girl, who on the second day of life survived surgery for a left CDH. Adrenaline intratracheally via the nasotracheal tube was given to break a condition of refractory bronchospasm and desaturation. In the case of refractory bronchospasm and desaturation adrenaline may be helpful due to its alpha-receptor stimulation as this may inhibit bronchoconstriction, improve the V/Q mismatch and reduce pulmonary vascular resistance and mucosal swelling.