Familial mediterranean fever (recurrent hereditary polyserositis) in children: analysis of 88 cases

The clinical profile, course and complications of familial Mediterranean fever (recurrent hereditary polyserositis) seen in 88 children over a period of 11 years are presented. Forty eight children (55%) started their illness below the age of 5 years, and the mean age of onset was 4.9 years. Peritonitis occurred in 85% of children, arthritis in 50%, pleuritis in 33% and erysipelas-like lesions in 16%. Two children developed renal amyloidosis, and one third of the children were subjected to unnecessary operative surgery, reflecting the diagnostic difficulties. The arthritis was mono-articular in 80% and polyarticular in 20% of children with arthritis, and was seronegative (rheumatoid factor and antinuclear antibodies). Human leucocyte antigen (HLA) typing for the B-27 antigen carried out in ten children with arthritis was negative. The synovial attack showed a wide variation in the clinical presentation, course and duration of arthritis, causing diagnostic difficulties. The difficulties in the differentiation of recurrent hereditary polyserositis (familial Mediterranean fever) arthritis from the common causes of acute and chronic juvenile arthritis and the seronegative spondyloarthropathies are discussed. Of 45 children treated with colchicine, 42 children (93%) achieved a therapeutic response.Abbreviations FMF familial Mediterranean fever - HLA human leucocyte antigen - RHP recurrent hereditary polyserositis     

Danish primary schoolteachers'' knowledge about asthma: results of a questionnaire

We present an anonymous questionnaire inquiry involving 334 primary schoolteachers in the Randers area with the purpose of elucidating teachers' knowledge about asthma. To a series of statements about asthma, the teachers answered yes, no or don't know. A limited knowledge of different aspects of asthma in children was found, although 57% had asthma children in their classes. Specially limited was knowledge about medical treatment. Five percent had received proper instruction about asthma and had a significantly better knowledge of medical treatment (p less than 0.001-0.05). Only 57% knew that wheezing after physical exertion is a strong indicator of asthma and only 33% knew that exertion in cold weather increases the risk of an attack. It is recommended that instruction in children's diseases, especially asthma, is introduced in teacher training colleges.     

Renal tubular insufficiency, cholestatic jaundice, and multiple congenital anomalies--a new multisystem syndrome

We are describing two male siblings with proximal renal tubular insufficiency, cholestatic jaundice, predisposition to infection, and multiple congenital anomalies. These patients presented in the early neonatal period with micrognathia, low set ears, high arched palate, barrel shaped chest, bilateral simian creases, club feet, congenital hip dislocation, hypotonia, conjugated hyperbilirubinemia, repeated infections, and severe failure to thrive. They died at the age of 2 and of 4 months despite medical therapy. Findings of renal tubular insufficiency included persistent renal tubular acidosis, glucosuria, phosphaturia, aminoaciduria, and mild proteinuria. Kidney biopsy, liver biopsy, and a comprehensive immunologic investigation were performed on the first sibling. Kidney histology was normal except for calcification of some distal tubules. Liver biopsy revealed paucity of bile ducts, bile stasis, and some inflammatory cell infiltration. Immunologic investigation suggested a defect in polymorphonuclear cell migration and intracellular killing. Review of the literature revealed remarkably similar findings in two previously reported male siblings. These four cases probably represent a previously unrecognized familial syndrome. The possible etiology and mode of inheritance of this syndrome are discussed, and the association of hepatic and renal tubular dysfunction is reviewed.     

Treatment of tracheobronchomegaly with an Ultraflex prosthesis. A case report

Tracheobronchomegaly is defined as a dilatation of the trachea and the large bronchi. It may occur as a familial condition or in association with a connective tissue disease, e.g. Ehlers-Danlos syndrome. Tracheobronchomegaly occurs late in adults. The predominant symptoms are bronchial irritation and recurrent bronchopulmonary infections (because of ineffective cough). Diagnosis is provided by thoracic imaging, particularly computed tomography that enables measuring the precise diameter of the trachea. We report the case of one patient with tracheobronchomegaly who was greatly improved after implantation of Ultraflex tracheobronchial prostheses.     

Design and pharmacology of N-[(3R)-1,2,3,4-tetrahydroisoquinolinium- 3-ylcarbonyl]-(1R)-1-(4-chlorobenzyl)- 2-[4-cyclohexyl-4-(1H-1,2,4-triazol- 1-ylmethyl)piperidin-1-yl]-2-oxoethylamine (1), a potent,selective, melanocortin subtype-4 receptor agonist

Synthetic and natural peptides that act as nonselective melanocortin receptor agonists have been found to be anorexigenic and to stimulate erectile activity. We report the design and development of 1, a potent, selective (1184-fold vs MC3R, 350-fold vs MC5R), small-molecule agonist of the MC4 receptor. Pharmacological testing confirms the food intake lowering effects of MC4R agonism and suggests another role for the receptor in the stimulation of erectile activity.     

Portal vein pulsatility and spectral width changes in patients with portal hypertension: relation to the severity of liver disease

Using Doppler ultrasound in patients with chronic liver disease (CLD) and portal hypertension, portal vein pulsatility pattern and spectral width changes were assessed and evaluated in relation to the severity of liver disease as determined according to the Child-Pugh score. The pulsatility index (PI) was significantly lower in CLD patients (mean+/-SD: 0.23+/-0.08) compared with healthy subjects (0.39+/-0.1) (p<0.001) and lower in Child-Pugh class C compared with Child-Pugh class A patients (0.21+/-0.07 vs 0.25+/-0.08, respectively) (p<0.05). The spectral width index was significantly higher in CLD patients vs healthy subjects (0.91+/-0.16 vs 0.60+/-0.12, respectively) (p<0.001). The difference was also noted in the early stage (Child-Pugh A patients) when compared with healthy subjects (0.88+/-0.17). In conclusion, portal vein pulsatility and spectral width indices can reflect the early haemodynamic changes in CLD patients. These changes become more pronounced with the progression of liver disease.     

Diagnosis of giardiasis using an enzyme-linked immunosorbent assay (ELISA) on formalin preserved stools

From a total of 162 children, three stool samples were collected from each child over a period of one week and preserved in formalin. Giardia lamblia was diagnosed by direct microscopy of formol-ether concentrates for each of the three samples. The first sample was also subjected to an ELISA test for detection of Giardia Iambia stool antigen in formalin preserved stool specimens. Microscopic examination revealed that 45 children were infected whereas ELISA detected 41 cases giving a sensitivity of 91.1% and a specificity of 99.1%. Predictive value of a positive test was 97.6% and that of a negative test was 96.7%. A significant correlation was present between mean optical density readings of ELISA and number of cysts present. No crossreactivity was observed ELISA is a simple, sensitive and specific test that can be applied in epidemiological studies for detection of Giardia lamblia coproantigen in formalin preserved stool specimens.     

Intraperitoneal chemotherapy strategies in the treatment of epithelial ovarian carcinoma

The intraperitoneal delivery of chemotherapeutic agents is presently being investigated as a part of salvage treatment for epithelial ovarian cancer. There are several promising new agents that appear to demonstrate a benefit in selected patients.     

Development of cholinergic properties in nerve cell cultures in the presence of brain extract

Cells dissociated from cerebral hemispheres of 6-day-old chick embryos were cultured either in standard nutrient medium or in the presence of a brain extract from 8-day-old chick embryo. Morphological observations showed the development of bipolar and multipolar neurons in both culture conditions and acetylcholinesterase activity was found in all neuronal cells. Brain extract stimulated the morphological maturation of neurons, expressed by the formation of fiber bundles, fine structural maturation and development of synapses rich in clear vesicles. Furthermore, acetylcholinesterase and choline acetyltransferase activities were higher in the cultures treated with brain extract. In these cultures, the values of choline acetyltransferase activity reached a peak at 10 days and then decreased. These observations are discussed with particular reference to proliferation, maturation and degeneration of cholinergic neurons.