Schwartz-Jampel syndrome (osteochondromuscular dystrophy)]

BACKGROUND. Schwartz-Jampel syndrome is a rare disorder inherited as an autosomal recessive trait and characterized by growth retardation, multiple skeletal abnormalities, myotonia-like muscle disorders and unusual facies. CASE REPORTS. Case n. 1: A boy, aged 3 years 4 months, was admitted for acute respiratory disease. His main abnormalities included rigid facial expression, blepharophimosis, puckered lips, short neck, pectus carinatum, acetabular dysplasia with coxa vara, platyspondyly and marked growth retardation. There was a continuous muscle fiber activity at rest, with abnormal discharges originating in the muscle component of the neuromuscular junction. Blood investigations revealed low values of IgA. The child died at 4 years. Case n. 2: The sister of case n. 1 was examined at 14 months of age. She presented milder facies abnormalities, difficulties of gait because of stiff hips, muscular hypertrophy, coxa vara and growth retardation. X-rays showed skeletal abnormalities and the electromyogram was similar to those of her brother. She had dislocation of her optic lens. CONCLUSION. These 2 sibs have the characteristic manifestations of Schwartz-Jampel syndrome. Parental consanguinity was also present. The IgA deficiency observed in case n. 1 and the lens dislocation in case n. 2 have both been occasionally reported in this syndrome.     

Burns during pregnancy: a gloomy outcome

The effect of burns on fetal and maternal survival is known to be detrimental. This prospective study describes the performance of pregnant burned patients who were managed and followed up for fetal and maternal outcomes at Ain Shams University's burn unit and Maternity Hospital during the period from October 1995 to September 1996. During the 12-month period, 27 pregnant burned patients were managed. Fetal and maternal mortality correlated with the total body surface area (TBSA) burned, the mortality rate being 63 per cent for both mothers and fetuses in the 25–50 per cent TBSA group. A fetal loss of 56 per cent with no maternal loss were recorded in the 15–25 per cent TBSA group. Experience in dealing with pregnant burned patients proves that early surgical excision and skin grafting, with timely termination of pregnancy are the best lines of treatment. Prevention or minimizing the effects of the burns may be achieved by proper education and guidance of the pregnant woman.     

Breast milk transmission of a Panton-Valentine leukocidin-producing Staphylococcus aureus strain causing infantile pneumonia

We report on a 38-day-old infant who developed pleuropneumonia due to a Staphylococcus aureus strain responsible for familial furunculosis, which was acquired by maternal breast-feeding. All isolates from the infant and parents were genetically related by randomly amplified polymorphic DNA analysis and produced Panton-Valentine leukocidin.     

The Plasmodium falciparum knob-associated PfEMP3 antigen is also expressed at pre-erythrocytic stages and induces antibodies which inhibit sporozoite invasion

The expression of the pfemp3 gene and the corresponding PfEMP3 knob-associated protein in the pre-erythrocytic stages of Plasmodium falciparum was demonstrated by RT-PCR, Western blots, IFAT and IEM. The antigen was found on the surface of the sporozoite and in the cytoplasm of mature hepatic stage parasites. Immunological cross-reactivity was observed with sporozoites from the rodent malaria parasites Plasmodium yoelii yoelii and Plasmodium berghei and was exploited to assess a potential role of this protein at the pre-erythrocytic stages. Specific antibodies from immune individuals were found to inhibit P. yoelii yoelii and P. berghei sporozoite invasion of primary hepatocyte cultures. PfEMP3 should now be added to the small list of proteins expressed at the pre-erythrocytic stages of P. falciparum, and its vaccine potential now deserves to be investigated.     

Méningite à pneumocoque résistant à la pénicilline et transmission nosocomiale en milieu hospitalier pédiatrique confirmée par analyse génomique

Background.

Careful epidemiological studies and sophisticated diagnostic procedures are necessary to prove that bacterial infection is nosocomial in origin. DNA finger printing method can be useful with this aim in view.

Case reports.

A 11 month-old girl suffered from a febrile pneumonia. She developed acute meningitis 15 days later; culture of CSF grew Streptococcus pneumoniae, serotype 23 F, resistant to β-lactamines, erythromycin and cotrimoxazole. She died 24 hours later. Five days after this death, a 5 month-old infant hospitalized in the next bed developed an acute pulmonary infection due to the same strain with the same bacterial characteristics; this patient was cured with cefotaxime plus vancomycin and gentamicin. Randomly amplified polymorphic DNA analysis showed an identical profile of both strains.

Conclusion.

This is the first case of meningitis due to penicillin-resistant Streptococcus pneumoniae (PRSP) associated with nosocomial spread between two children in adjacent beds. This case suggests that it is necessary to isolate patients with PRSP infection during hospitalization.     

Staphylococcal scalded skin syndrome: An uncommon symptomatology revealing an immune deficiency

Primary immune deficiencies associated with hyper-IgE syndrome are rare diseases with clinical features dominated by recurring cutaneous and visceral bacterial infections, particularly infections due to Staphylococcus species. Most of these infections are associated with milder inflammation compared to normal. We report a primary immune deficiency associated with a hyper-IgE syndrome revealed by a staphylococcal scalded skin syndrome in a 5-year-old girl. The patient presented with a severe staphylococcal infection with extensive skin lesions and disseminated intravascular coagulation. She received intravenous fluids to compensate for fluid losses and anti-staphylococcal antibiotics. Coagulopathy was also corrected. However, the progression was rapidly fatal.     

Phospholipase C from Pseudomonas aeruginosa and Bacillus cereus:characterization of catalytic activity

Objective:To study characteristics of phospholipases C(PLCs),their importance for producing microorganisms us well us the potential of their use for industrial purposes.Methods:PLC from Bacillus cereus(B.cereus) D101 was selected as an example of Gram-positive PLCs and PLC from Pseudomanas aeruginosa(P.aeruginosa) D183 of Gram-negative ones.Enzymes were partially purified by ammonium sulfate precipitation followed by membrane dialysis.Partially purified preparations were used to study effect of different factors on activities as well as in substrate specificity tests which were conducted using a turbidimetric assay method.Results:Maximum activity was at pH 7 and 8 and 40 ℃ for P.aeruginosa PLC,and pH 8-10 and 37 ℃ for B.cereus PLC.Both PLCs were inhibited by Pi at 5 mM or higher,whereas,PLC from B.cereus only was inhibited by EDTA.Activity of P.aeruginosa PLC was not affected by removing Zn~(2+) ions from reaction mixture or their replacement with Ca~(2+),Ba~(2+),Mg~(2+) or Mn~(2+)ions.Vis-a-vis,activity of B.cereus PLC was found to be metal ion dependent PLCs from both isolates were relatively thermostable and showed maximum affinity toward phosphatidylcholine.Sphingomyelin and phosphatidylethanolamine were not good substrates and phosphatidylinositol,phosphatidylserine,phosphatidylglycerol and cardiolipin could be considered nonsubstrates.Conclusions:Human body physiological conditions could favor activity of P.aeruginosa and B.cereus PLCs.These enzymes may participate in phosphate scavenging and virulence of producing isolates but not in autolysis.PLCs from both isolates are potential candidates for industrial use.     

First experience of the use of a generic of plerixafor in peripheral blood stem cell mobilization in multiple myeloma and lymphoma patients

Mobilization failure in patients is a major therapeutic concern which makes subsequent ASCT impossible. A new growth factor called Plerixafor (Mozobil®) developed by the pharmaceutical industry (Sanofi-aventis, France), is a chemoreceptor antagonist, CXCR4 type, which disrupts the interaction of SDFI and CXCR4, thereby enhancing the effect of G-CSF mobilization and is especially indicated for mobilization failure. Currently, there is a generic of plerixafor developed by the pharmaceutical industry (Hetero Drugs Ltd, India). The brand name of this medicine is Mozifor®. The objective of this study was to evaluate if generic plerixafor has the same efficacy and safety as originator plerixafor when used with G-CSF in the mobilization of PBSCs for autologous ASCT in multiple myeloma (MM) and lymphoma failure patients. The 32 patients received plerixafor were divided in two groups. The first group concerns the 11 consecutive patients prospectively received generic plerixafor (Mozifor®) in the period between January to July 2020. These were compared with a retrospective control cohort (second group n = 21) who had been treated between 2009 and 2019 with originator plerixafor (Mozobil®). For the Mozifor® group, the mean CD34+ was 4.54x10⁶/kg(1.56-6.79), the median time to achieve an absolute neutrophil count >0.5 G/L was 13 days (range: 8–21). The median time to self-sustained platelet count >20 G/L was 15 days (range: 8–24). For the Mozobil® group, the mean CD34+ was 3.1x10⁶/kg (0.56-8.91) (p=0.86), the median time to achieve an absolute neutrophil count >0.5 G/L was 10 days (range 7–23). The median time to self-sustained platelet count >20 G/L was 13 days (range: 7–29). Our study showed that the generic of plerixafor was practically identical to that of the originator (Mozobil®) with no significant difference (p = 0.52). This study demonstrates the safety and feasibility of mobilization PBSC with generic plerixafor in ASCT in MM and lymphoma. Although these outcomes are encouraging, prospective comparison with other traditional auto-HCT regimens used for patients with MM and lymphoma is warranted.     

Ginseng aqueous extract ameliorates lambda‐cyhalothrin‐acetamiprid insecticide mixture for hepatorenal toxicity in rats: Role of oxidative stress‐mediated proinflammatory and proapoptotic protein expressions

This study was carried out to evaluate the protective effects of Panax ginseng aqueous extract (GAE) against hepatorenal toxicity induced by lambda‐cyhalothrin‐acetamiprid insecticide mixture in rats. A total of 32 male albino rats were assigned into four groups. Normal control group received distilled water. Insecticide control group intoxicated with the insecticide at a dose of 2.14 mg/kg b.wt orally day after day for 45 days. GAE control group was treated with GAE at a dose 200 mg/kg b.wt orally. GAE experimental group was administered GAE 1 hour before insecticide administration. Intoxication of rats with the insecticide caused a significant increase in serum aspartate aminotransferase and alanine aminotransferase activities and urea and creatinine levels as well as malondialdehyde concentration and proteins expression of caspase‐3 and induced nitric oxide synthase in hepatic and renal tissues. However, it decreased the serum levels of total protein and globulin and reduced the glutathione content and catalase activity in hepatic and renal tissues. In addition, insecticide induced histopathological alterations in both hepatic and renal tissues. In contrast, GAE modulated insecticide‐induced alterations in liver and kidney functions and structures as it ameliorated the effects of insecticide on the above mentioned parameters. These results indicated that GAE was a potent antioxidant agent that could protect rats against insecticide‐induced hepatorenal toxicity.     

Effect of Steady-State Faldaprevir on the Pharmacokinetics of Steady-State Methadone and Buprenorphine-Naloxone in Subjects Receiving Stable Addiction Management Therapy

The effects of steady-state faldaprevir on the safety, pharmacokinetics, and pharmacodynamics of steady-state methadone and buprenorphine-naloxone were assessed in 34 healthy male and female subjects receiving stable addiction management therapy. Subjects continued receiving a stable oral dose of either methadone (up to a maximum dose of 180 mg per day) or buprenorphine-naloxone (up to a maximum dose of 24 mg-6 mg per day) and also received oral faldaprevir (240 mg) once daily (QD) for 8 days following a 480-mg loading dose. Serial blood samples were taken for pharmacokinetic analysis. The pharmacodynamics of the opioid maintenance regimens were evaluated by the objective and subjective opioid withdrawal scales. Coadministration of faldaprevir with methadone or buprenorphine-naloxone resulted in geometric mean ratios for the steady-state area under the concentration-time curve from 0 to 24 h (AUC_0–24,ss), the steady-state maximum concentration of the drug in plasma (C_max,ss), and the steady-state concentration of the drug in plasma at 24 h (C_24,ss) of 0.92 to 1.18 for (R)-methadone, (S)-methadone, buprenorphine, norbuprenorphine, and naloxone, with 90% confidence intervals including, or very close to including, 1.00 (no effect), suggesting a limited overall effect of faldaprevir. Although individual data showed moderate variability in the exposures between subjects and treatments, there was no evidence of symptoms of opiate overdose or withdrawal either during the coadministration of faldaprevir with methadone or buprenorphine-naloxone or after faldaprevir dosing was stopped. Similar faldaprevir exposures were observed in the methadone- and buprenorphine-naloxone-treated subjects. In conclusion, faldaprevir at 240 mg QD can be coadministered with methadone or buprenorphine-naloxone without dose adjustment, although given the relatively narrow therapeutic windows of these agents, monitoring for opiate overdose and withdrawal may still be appropriate. (This study has been registered at ClinicalTrials.gov under registration no. {"type":"clinical-trial","attrs":{"text":"NCT01637922","term_id":"NCT01637922"}}NCT01637922.)