Hidden under a Cauliflower-Like Skin Tumor: Chromoblastomycosis.

We present the case of an 80-year-old patient with a recurrent hyperpigmented and cauliflower-like skin tumor on the stump of his left index finger. Despite suggestive clinical appearance for chromoblastomycosis the tumor was initially clinically and also histopathologically misdiagnosed as recurrent squamous cell carcinoma. Due to a cardiogenic shock, the patient died shortly after the diagnosis of chromoblastomycosis, before adequate treatment could be introduced. In non-tropical regions chromoblastomycosis is an uncommon chronic fungal infection with Fonsecaea pedrosoi being the most prevalent etiological agent. Mostly lower extremities are involved. It is not unusual that, clinically, in the absence of pigmentation, and, histopathologically, because of pseudoepitheliomatous hyperplasia of the epidermis, chromoblastomycosis is confounded with squamous cell cancer, and delays in diagnosis of one to 3 years are common. Therefore, a high grade of clinical suspicion and inclusion of chromoblastomycosis in the differential diagnosis of pigmented skin tumors are important to initiate adequate therapy. Our case is remarkable in many aspects. The localization on an upper extremity and the grade of invasiveness with involvement of bone are unusual; furthermore the lack of a tropical travel history emphasizes that the infection almost surely occurred in Switzerland.

[Dumbbell nephroblastoma: an uncommon cause of spinal cord compression]. / Néphroblastome en sablier : une cause inhabituelle de compression médullaire.

UNLABELLED: Rarely children with Wilms' tumor develop spinal cord dysfunction by metastatic spread into the epidural space or the cord parenchyma. In the case reported here, the mechanism of spinal compression was different. CASE REPORT: The authors report the clinical course of a 2-month-old boy with retroperitoneal extrarenal Wilms' tumor below the left kidney, characterized with a spinal cord compression developed through the intervertebral foramina. CONCLUSION: Abdominal tumor, usually corresponding to neuroblastoma, may be a nephroblastoma.

Modification of topoisomerase genes copy number in newly diagnosed childhood acute lymphoblastic leukemia.

Topoisomerase genes were analyzed at both DNA and RNA levels in 25 cases of newly diagnosed childhood acute lymphoblastic leukemia (ALL). The results of molecular analysis were compared to risk group classification of children in order to identify molecular characteristics associated with response to therapy. At diagnosis, allelic imbalance at topo-isomerase IIalpha (TOP2A) gene locus was found in 75% of informative cases whereas topoisomerase I and IIbeta gene loci are altered in none or only one case, respectively. By semi-quantitative Polymerase chain reaction, we found a 2.5 to 8-fold TOP2A gene amplification in 72% of the children, which was correlated to gene overexpression in every case. These results show that TOP2A gene amplification is a frequent event in ALL at diagnosis. Interestingly, we also identified a small population of children that do not present TOP2A gene amplification or gene overexpression and who are significantly associated with very high risk classified patients showing glucocorticoid resistance. In conclusion, characterization of TOP2A gene status in childhood ALL at diagnosis provides useful complementary information for risk assessment.

Translocation t(5;14)(q35;q32) in three cases of childhood T cell acute lymphoblastic leukemia: a new recurring and cryptic abnormality.

We report three cases of T-ALL in which conventional cytogenetic analysis yielded normal karyotypes, but for which a new M-FISH technique (IPM-FISH) was able to detect a translocation. For these patients this technique highlighted a new, recurring and cryptic translocation t(5;14)(q35;q32) in childhood T-ALL which might be phenotypically restricted. The most innovative part of this technique is the use of interspersed polymerase chain reaction (IRS-PCR) painting probes that show an R-band pattern simultaneous with the combinatorial labeling. Contrary to the DOP-PCR, IRS-PCR-derived probes provide stronger hybridization signals at the telomeric ends that potentially increase the possibility of detecting cryptic translocations. All the IPM-FISH findings were validated by FISH with whole chromosome painting and unique sequence probes. These results demonstrate the efficient use of IPM-FISH as an improved, single-step method for the identification of cryptic chromosomal abnormalities. This new IPM-FISH technique is a good tool to display cryptic chromosomal abnormalities.

Efficacy of amphotericin B lipid complex in the treatment of invasive fungal infections in immunosuppressed paediatric patients.

The safety and efficacy of amphotericin B lipid complex (ABLC) were evaluated in a retrospective study of 46 paediatric patients with invasive infections. The study included a large proportion of patients who were refractory to or intolerant of conventional antifungal therapy. The mean age of the children was 9.7 +/- 4.8 years. Primary underlying conditions included mainly haematopoietic stem cell transplantation, leukaemia and lung transplantation. The mean daily dose given was 4.11 mg/kg for a mean duration of 38.7 days. At the end of therapy, 38 of 46 (83%) patients responded successfully to treatment with ABLC, including 18 of 23 (78%) with aspergillosis and 17 of 19 (89%) with candidiasis. ABLC was well tolerated, with a low incidence of adverse events. The mean creatinine value was 74.5 microl/mol/l at baseline and 78.2 micromol/l at the end of therapy. These results support the use of ABLC in the treatment of invasive fungal infections in children, including patients who have previously failed, or are intolerant of, traditional antifungal regimens.

A syndrome of congenital ichthyosis, hypogonadism, small stature, facial dysmorphism, scoliosis and myogenic dystrophy.

Rud syndrome formerly was considered as a genetically heterogeneous but distinct clinical entity with the manifestations of ichtyosis, hypogonadism, small stature, mental retardation, epilepsy and, infrequently, retinitis pigmentosa. The existence of such a syndrome has recently been dismissed based on a new understanding of the ichthyoses. We report on the clinical history of a 14-year-old boy with congenital ichthyosis, small stature, hypogonadism, facial dysmorphism, nystagmus, kypho-scoliosis and myogenic dystrophy. He was diagnosed as Rud syndrome but developed neither seizures nor mental retardation. However a cousin was mentally retarded. The ichthyosis was familial as five relatives had ichthyosis but no other features of Rud syndrome. The patient had a deletion of the steroid-sulfatase gene. He had neither chondrodysplasia punctata, nor Kallmann syndrome, two conditions which are part of the contiguous gene syndrome of the Xp22.3 region. Most case reports previously reported as Rud syndrome can now be reassigned under a contemporary ichthyosis classification that does not include Rud syndrome as a distinct entity. This case was clearly distinct from Refsum disease, Sjögren-Larsson syndrome and any of the other ichthyosis disorders that have been suggested as a replacement for Rud syndrome. Thus the case reported here appears distinct from any previously described, currently recognized syndrome.

Evaluation of interleukin-6 and soluble receptors of tumor necrosis factor for early diagnosis of neonatal infection.

OBJECTIVE: To evaluate plasma levels of interleukin-6 (IL-6) and soluble tumor necrosis factor receptors (sTNF-R) 55 and 75 in neonates as a contribution to the early diagnosis of infection. STUDY DESIGN: We prospectively measured IL-6 and sTNF-R 55 and sTNF-R 75 plasma levels in 157 newborn infants admitted to our regional neonatal center in a 3-month period and in cord blood of 131 newborn infants delivered in our obstetrics unit. C-reactive protein was sequentially determined after admission. Newborn infants were classified into four groups: group 0, not infected; group 1, possibly infected; group 2a, infected (culture positive), and group 2b, probably infected (culture negative). We looked for the optimal cutoff point of these parameters, using the receiver operating characteristics (ROC) curve. RESULTS: IL-6 levels were significantly higher in group 2 (n = 11; median level, 250 pg/ml; range, 0 to 81,000), group 2b (n = 25; median level, 750 pg/ml; range, 0 to 180,000), and group 1 (n = 35; median level, 160 pg/ml; range 0 to 10,000), in comparison with group 0 (n = 217; median level, 0 pg/ml; range, 0 to 3400). A cutoff value of 100 pg/ml or greater obtained by the ROC method gives a sensitivity of 83.3% and a specificity of 90.3%. For inborn infants (n = 220) sampled at birth, sensitivity is 100% and specificity 92.3%. This high sensitivity persists until the twelfth hour of life. The sTNF-R 55 levels are significantly higher in group 2a (median, 12.0 ng/ml; range, 3.2 to 24.4). In group 2b (median, 7.0 ng/ml; range, 3.0 to 25.2), and in group 1 (median, 7.0 ng/ml; range, 2.5 to 18.9) than in group 0 (median, 3.9 ng/ml; range, 1.5 to 15.0), and with a cutoff value of 6 ng/ml, sensitivity is 75% and specificity 69%. The sTNF-R 75 levels are significantly higher in group 2a (median, 17.0 ng/ml; range, 7.2 to 48.8). In group 2b (median, 11.2 ng/ ml; range, (2.0 to 31.3), and in group 1 (median, 10.6 ng/ml; range, 2.0 to 33.0); than in group 0 (median, 7.0 ng/ml; range, 1 to 23.0). With a cutoff value of 9 ng/ ml, sensitivity is 80% and specificity 67%. Sensitivity of C-reactive protein is low initially but improves with time. Combining IL-6 with C-reactive protein provides the possibility of identifying the majority of infected infants in the postnatal period. CONCLUSION: A plasma IL-6 level of 100 pg/ml or greater, obtained before the twelfth hour of life, appears to be an ideal marker for detecting early-onset neonatal infection with a high degree of sensitivity and specificity. After the twelfth hour, the combined determination of IL-6 and C-reactive protein may be equally useful. The sTNF-R levels appear to be less useful in the early diagnosis of infection because of their smaller magnitude of variation.

Successful cord blood stem cell transplantation for congenital erythropoietic porphyria (Gunther's disease).

Congenital erythropoietic porphyria (Gunther's disease, GD) is a rare autosomal recessive disease. It results from the deficiency of uroporphyrinogen III synthase, the fourth enzyme on the metabolic pathway of heme synthesis. GD leads to severe scarring of the face and hands as a result of photosensitivity and fragility of the skin due to uroporphyrin I and coproporphyrin I accumulation. It also causes erythrocyte fragility leading to haemolytic anaemia. The other clinical features include hirsutism, red discolouration of teeth, finger-nails and urine and stunted growth. The outcome is poor, and the disfiguring nature of GD may partly explain the legend of the werewolf. No curative treatment was known until 1991, when the first case of BMT in GD was reported. The clinical and biological outcome after transplantation was encouraging, with an important regression of the symptoms of the disease, but the child died of CMV-infection 11 months after BMT. We report the second case of GD treated successfully by stem cell transplantation using umbilical cord blood from an HLA-identical brother in a 4-year-old girl suffering from severe GD. Our patient is very well 10 months after transplantation. We confirm that stem cell transplantation is curative for GD.

Determination of individual ultrafiltration time (APEX) and purification phosphate time by peritoneal equilibration test: application to individual peritoneal dialysis modality prescription in children.

Efficiency of peritoneal dialysis (PD) is dependent on adequate ultrafiltration (UF) and purification (solute clearance). These two goals apparently seem to conflict in terms of duration of dwells: short dwell time enhances UF capacity and, conversely, long dwell time enhances solute clearance. Peritoneal equilibration test (PET) allows an approach to the ultrafiltration time: the point at which the over time dialysate urea saturation and glucose desaturation curves cross, call APEX time. PET also allows an approach to the purification time: the point at which dialysate-to-plasma (D/P) concentration ratios over time are high. Because of the value of phosphate as a uremic factor of morbidity, we have chosen the time at which D/P phosphate is equal to 0.6 as a purification phosphate dwell time (PPT). A total of 17 patients were studied, over a five-year period, allowing 142 determinations. APEX times (range 18-71 min) and PPT (range 105-238 min) were spread over a wide distribution. PPT and APEX times were significantly shorter in children younger than three years of age than in children older than ten years of age. PPT were nearly four times longer than APEX times. Knowledge of these conflicting ultrafiltration and purification times should help, in our view, in the individual choice of the PD modality: if UF is the major goal, short dwell times should be used (automated PD); if purification is the major goal, long dwell times should be used, as in continuous ambulatory peritoneal dialysis; if both are the target goal, tidal PD should be discussed.

Nutritional effects of KT/V in children on peritoneal dialysis: are there benefits from larger dialysis doses?

Dialysis adequacy is monitored by urea kinetic modeling (UKM), in particular by calculation of KT/V (normalized whole body urea clearance) and PCRN (normalized protein catabolic rate). All children on peritoneal dialysis from our unit (7 children; mean age 7 years, 8 months) participated in our study (dialysis research program of the French Registry of Peritoneal Dialysis). Every month analysis of dialysate and urine collections and blood samples were compared to a 3-day diet survey to analyze the relations between doses of dialysis (KT/V) and nutrition [dietary protein intake (DPI) and caloric intake]. Calculated protein intake and DPI were also compared. Spearman correlation coefficients were used to assess the association between variables. KT/V values were spread over a wide range (0.8-2.8, mean 1.9). KT/V was positively (weakly) correlated to PCRN (p = 0.07, y = 0.24x + 1.08, r = 0.2), but not to DPI. No correlation could be found between PCRN and DPI, but doses of dialysis (KT/V) were positively correlated to caloric intake (p = 0.001, y = 28.97x + 13.66, r = 0.424). We assume that the correlation between KT/V and PCRN is not necessarily the reason, but only a calculation effect. On the contrary, the positive correlation between KT/V and caloric intake allows us to speculate that more efficient dialysis enhances appetite.

Mother-infant bonding : A scientific fiction.

A study of the research on postpartum mother-infant bonding shows that results from poorly constructed research programs were published in major journals and became a part of hospital policy because the bonding concept was politically useful in the struggle between advocates of natural childbirth and managers of the medical model of birth. The concept was also uncritically accepted because it was consistent with a longstanding ideology of motherhood that sees women as the prime architects of their children's personalities.