Congenital papulonodular eruption: presenting sign of congenital leukaemia cutis.

Congenital leukaemia (CL) is a rare malignancy that accounts for < 1% of cases of childhood leukaemias. Leukaemia cutis (LC) refers to cutaneous infiltration with leukaemic cells, and is seen in 30-50% of CL cases. It may precede, follow or occur simultaneously with leukaemia. If left untreated, the prognosis is usually poor, but early diagnosis and treatment may result in a favourable prognosis. We report a case of congenital leukaemia cutis with a progressive, violaceous papulonodular eruption (a 'blueberry muffin' rash), which had been noted at birth, as a presenting sign of acute myeloid leukaemia (AML), which on investigation was classified as AML, FAB M2 type with a t(8; 21)(p11;q22) chromosomal defect. The patient had a favourable response to AML chemotherapy.

Mucocele of appendiceal stump--an atypical presentation and a diagnostic dilemma.

BACKGROUND: Appendiceal mucocele is a well-recognised entity that can present in a variety of clinical syndromes or can occur as an incidental surgical finding. The term mucocele is inherently imprecise and inclusive of both benign and malignant lesions. Mucocele of the appendiceal stump is a rare entity. AIM: We present a case of an appendiceal stump mucocele caused by a mucinous cystadenoma clinically presented as a giant retroperitoneal mass. Diagnosis was made postoperatively, after pathological study of the surgical sample. CASE REPORT: The case of a 54-year-old woman, with a previous appendectomy, suffering from a painful mass in the right lower quadrant of the abdomen, is reported. Imaging showed a large cystic structure at the base of the caecum. Surgery revealed a 13 x 5.5 cm retroperitoneal cystic mass, which was excised together with the appendiceal remnant. Pathological diagnosis was that of a mucocele arising from the appendiceal stump due to the development of a benign mucinous cystadenoma. The patient was discharged on the fourth post-operative day after an uneventful recovery. CONCLUSION: Mucocele of the appendiceal stump is a rare entity. In spite of extensive pre-operative investigations, preoperative diagnosis may still remain elusive and may only be made at the time of surgery.

Abdominal metastasis of a parosteal osteosarcoma of the femur: an unusual cause of large-bowel obstruction.

BACKGROUND: Parosteal osteosarcoma is a rare, well-differentiated, predominantly fibro-osseous variant of osteosarcoma. It is regarded as a distinct form of osteosarcoma with better prognosis than conventional osteosarcoma. AIM: We report an unusual case of abdominal mass recurrence of parosteal osteosarcoma of the left distal femur treated eight years previously with wide resection, hip disarticulation and chemotherapy, which presented as an acute abdomen: we discuss the clinical outcomes of this rare entity. CASE PRESENTATION: We present a 54-year-old patient with low-grade parosteal osteosarcoma of the left distal femur. Left total hip disarticulation was indicated after several local relapses of the tumour following extensive resection and chemotherapy. Eight years later, he presented with an acute large bowel obstruction secondary to a compression of the large bowel by an abdominal mass. Abdominal computed tomography showed a large abdominal calcified mass with dilated large bowel loops. During laparotomy, the mass was unresectable. So, the patient underwent emergent colostomy of diversion. Biopsy of the lesion yielded grade III parosteal osteosarcoma material. The patient received adjuvant chemotherapy, but the response was poor: six months later, the patient presented with a peristomal mass and two pulmonary metastases. CONCLUSION: Abdominal recurrence of parosteal osteosarcoma of the distal femur eight years after definitive surgery is rare. This case emphasises the importance of the long-term follow-up of patients with parosteal osteosarcoma.

Assessment of sediment/water contamination by in vivo transplantation of the cockles Cerastoderma glaucum from a non contaminated to a contaminated area by cadmium.

In this study the cockle Cerastoderma glaucum, a filter-feeding bivalve living in the upper layer of sediment was used to investigate the cadmium contamination at a heavily urbanised and industrial area, with a view to using them as an indicator of water/sediment contamination. To this end, cockles collected from indigenous population in a relatively uncontaminated site (Ras Ungha) were in vivo transplanted into sediment and water removed from cadmium contaminated site (El Hofra) for 45 days. The manipulative experiment was undertaken in order to examine the trace metal bioavailability in the contaminated area and to establish an analytical framework between the bioaccumulation of cadmium in the tissues and their biological effect in transplanted cockles. For this purpose, a range of sublethal stress biomarkers were selected on the basis of their potential to provide relevant information. Cadmium concentrations were determined in the sediment and in the soft tissue of the cockles from the two studied stations at time 0. Compared to the reference site, cadmium concentrations in the contaminated site were 53 higher in the sediment and 15 higher in the whole soft tissues. The variation of cadmium concentrations and biomarkers responses in transplanted cockles were determined as a function of exposure time. After 45 days' experience, cadmium concentrations increased by a factor of 5 compared with time 0. No significant change could be detected in controls. In the digestive gland of exposed cockles cadmium was mainly associated with the cytosolic fraction. The significant increase of cadmium concentration in the soluble fraction was followed by a significant increase in the concentration of the Sulphydryl-Containing Heat Stable Compounds (SCHSC) including metallothionein like proteins by approximately 86%. This is led to investigation into possible existence of an induction of MT-like proteins in relation to cadmium accumulated by exposed cockles. Transplanted cockles were also subjected to some stress effect consisting in significant inhibition of cholinesterase activity by 26.5% when compared with control cockles. Increased levels of malondialdehydes (MDA) following cadmium exposure have been also reported, suggesting that exposed cockles have been submitted to an oxidative stress probably due to the presence of high cadmium contamination in the sediment. Principal component analyses showed that cockles in vivo transplanted into cadmium contaminated sediment and water were standing out progressively from the control group as a function of exposure time. A clear separation of the transplanted cockles from their controls was observed after 45 days' experience. But, the transplanted cockles appeared not having yet reached the same characteristics as the resident cockles from the contaminated site.

The effect of in situ cadmium contamination on some biomarkers in Cerastoderma glaucum.

The present study was designed to detect in situ effects of cadmium on marine organisms Cerastoderma glaucum from the gulf of Gabès (Tunisia). Six sampling stations were chosen: one site, relatively far from known local source of pollution, was considered as uncontaminated site and five sites clearly exposed to anthropogenic impact. Metallothionein like protein (MTLP) and sub-cellular metal partitioning were measured in cockles (C. glaucum) gills and digestive gland. Various biomarkers were also measured, including malondialdehyde (MDA) in the digestive gland and acetylcholinesterase activity (AChE) in the remainder. The health status of the cockles was assessed by using the condition index (CI). Significant differences between sites were noted for Cd concentrations, (CI) and also for the three studied biomarkers. Significant higher biomarkers response was measured in cockles from stations located in the northern part of the gulf, which are exposed directly to industrial and urban effluents, whereas the response of most biomarkers was minimal at the reference station. Positive and significant correlations were observed between MTLP and Cd concentrations in the digestive gland and in the gills. However, it must be noted that these correlations were more significant in the digestive gland, suggesting that compared to the gills, the digestive gland of C. glaucum is more suitable for monitoring metal pollution. The subcellular distribution of Cd showed that the soluble fraction was the major compartment for Cd storage, a pattern which is due to the role of MTLP in Cd detoxication. But at the most contaminated site (EH), cadmium in the digestive gland was preferentially accumulated in the insoluble fraction (P1) suggesting that the MTLP capacity in binding metals was not sufficient to avoid the binding of Cd to the insoluble fraction. Furthermore, the MTLP concentrations in the cockles from this site are lower than expected. So in highly polluted sites, MTLP in C. glaucum should not be used as a useful biomarker for metal pollution. The lipid peroxidation as presented by malondialdehyde levels, and MT-like protein concentrations increased in cockles exposed to cadmium contamination. We can, therefore, hypothesize that Cd could induce MTLP synthesis and MDA increase. While AChE had distinct and specific pattern showing that cadmium is not the only factor of the inhibition of cholinesterase activity. There are other polluting inputs engendering this inhibition.

A case of merosin-negative congenital muscular dystrophy with extensive white matter abnormalities and electroencephalographic changes in a Syrian boy.

Congenital muscular dystrophies are a group of heterogeneous disorders inherited as an autosomal recessive disease. In the Caucasians they are most frequently encountered as the so-called "pure" or occidental form. Recently it has been found that the severity of concomitant white matter changes depends on the presence or absence of merosin, the laminin isoform, in the skeletal muscle. The authors present a 2-year-old Syrian boy with congenital muscular dystrophy which proved to be merosin (laminin alpha2) deficient and believe that this is the first case described from Syria. The clinical picture, biochemical findings, neurophysiological investigations, biopsy findings and extensive abnormalities of white matter on magnetic resonance imaging (MRI) found in this case are presented. Peculiar electroencephalographic (EEG) pattern with fast rhythms in occipito-temporal regions is emphasized.

Retinopathy of prematurity in infants with birth weight above 1500 grams.

OBJECTIVE: To identify the rate and prognosis of retinopathy of prematurity (ROP) among newborn infants of birthweight of above 1500 grams, and the possible risk factors associated with the disease. DESIGN: A prospective cohort study. SETTING: Neonatal unit at Maternity Hospital, Kuwait city, Kuwait. METHODS: All low birth weight infants were examined for the presence of ROP in the period between January 1996 to December 1997. Prospective collection of data on babies who were above 1500 grams was done to find an association between the disease in these babies and some of the maternal and neonatal risk factors. RESULTS: A total of 68 babies of birth weight above 1500 grams were screened for ROP out of which 13 (19.1%) had different stages of the disease. None of the patients had threshold disease requiring surgery. Among the risk factors chosen, oxygen therapy, presence of hypotension at birth and the non-use of surfactant were the only risk factors to be associated with disease. However, with logistic regression analysis, none of these were independently associated with ROP. CONCLUSION: ROP may occur in newborn infants of larger birthweight but with good prognosis, and oxygen therapy seems to predispose to the disease.

Violence towards doctors: prevalence and effects.

Violence against doctors has already been identified as a matter of particular concern. Both the severity and the psychological sequelae of violence are difficult to quantify. This study was aimed at measuring the rates and severity, and determining the effects, of violence in doctors working in a general hospital.