Immunoglobulin replacement therapy contribution in agammaglobulinemia: 10 case reports]

Intravenous immunoglobulin (Ig IV) has been used for many years in the treatment of primary antibody deficiencies. We performed a retrospective study of the clinical features and outcome of agammaglobulinemia children who received prolonged Ig IV infusions. PATIENTS AND METHODS: Ten children, 9 male et 1 female, with agammaglobulinemia diagnosis were studied for the clinical manifestations before and during the Ig IV replacement therapy. Serum Ig levels were quantified by nephelometry. Circulating B ant T cells were counted by immunofluorescence labeling by monoclonal antibodies. T-cell functions were assessed by using mitogen and antigen -induced T-cell proliferation assays in vitro. Patients clinical status was evaluated respectively, before initiation and at every moment (when patients had an infection) of the replacement therapy. RESULTS: Ig IV therapy was performed for 866 cumulated months, median 108 months. The median Ig IV doses administered to the 10 patients was 500 mg/kg/month. Residual serum IgG mean level was 3,9 g/L. All patients had 99 bacterial infections/year before Ig IV, mainly respiratory tract infections (48,5%), and 4 patients had bronchiectasis before Ig replacement therapy. The number of infection/year fall to 25 during IgIV replacement, and the infection/patient/year rate decreases significantly. One patient developed an Echovirus 27 meningoencephalitis during this treatment. CONCLUSION: Ig IV therapy with residual IgG mean level of 3,9 g/l reduced significantly the rate of bacterial infections. The use of specific antibiotherapy and respiratory kinesitherapy led to a lower rate of respiratory tract infections, and the stabilisation of the bronchiectasis. However this intravenous replacement therapy does not protect against viral meningoencephalitis.     

丝裂霉素C在复发性青光眼中的应用

目的 :观察丝裂霉素C(MMC)在抗青光眼手术中应用的近期及远期效果。方法 :4 2只复发性青光眼在二次手术中一次性应用MMC术后观察及随访。结果 :术前眼压 34.0 5± 4 .0 5mmHg ,明显高于随访半年期 13.13± 3.30mmHg以及随访 2年期 14 .33± 3.30mmHg ,差异有显著性 (P <0 .0 1)。术后近期眼压 6 .75± 1.4 3mmHg ,明显低于随访半年期 (P <0 .0 1)。功能性滤过泡所占比率为 95 .2 %。结论 :术中一次性应用MMC ,远期观察其降压效果明显 ,且无严重并发症发生     

Molecular characterization of a 1p36 chromosomal duplication and in utero interference define ENO1 as a candidate gene for polymicrogyria

While chromosome 1p36 deletion syndrome is one of the most common terminal subtelomeric microdeletion syndrome, 1p36 microduplications are rare events. Polymicrogyria (PMG) is a brain malformation phenotype frequently present in patients with 1p36 monosomy. The gene whose haploinsufficiency could cause this phenotype remains to be identified. We used high-resolution arrayCGH in patients with various forms of PMG in order to identify chromosomal variants associated to the malformation and characterized the genes included in these regions in vitro and in vivo. We identified the smallest case of 1p36 duplication reported to date in a patient presenting intellectual disability, microcephaly, epilepsy, and perisylvian polymicrogyria. The duplicated segment is intrachromosomal, duplicated in mirror and contains two genes: enolase 1 (ENO1) and RERE, both disrupted by the rearrangement. Gene expression analysis performed using the patient cells revealed a reduced expression, mimicking haploinsufficiency. We performed in situ hybridization to describe the developmental expression profile of the two genes in mouse development. In addition, we used in utero electroporation of shRNAs to show that Eno1 inactivation in the rat causes a brain development defect. These experiments allowed us to define the ENO1 gene as the most likely candidate to contribute to the brain malformation phenotype of the studied patient and consequently a candidate to contribute to the malformations of the cerebral cortex observed in patients with 1p36 monosomy.Subject terms: Gene regulation, Genetics research     

Phase II study of carboplatin/ifosfamide in untreated advanced cervical cancer

A total of 32 patients with advanced squamous-cell carcinoma of the cervix were treated with 300 mg/m² i. v. carboplatin and 5 g/m² ifosfamide as a 24-h i. v. infusion, both given on day 1 every 4 weeks. In all, 3 (9%) complete responses (CRs) and 19 (59%) objective responses (CR+PR) were achieved in 32 patients. Myelosuppression with leukopenia and/or thrombocytopenia of WHO grade 4 in 28% and 13% of patients, respectively, was the main toxicity. The results of our study suggest that carboplatin/ifosfamide is active as neoadjuvant treatment in advanced cervical cancer.Presented at the Satellite Symposium Ifosfamide in Gynecological Tumors of the 5th European Conference on Clinical Oncology and Cancer Nursing, London, September 3–7, 1989     

Detection and molecular typing of human papillomaviruses: prevalence of cervical infection in the Tunisian central region

There are compelling molecular and epidemiological data which indicate that infection with certain genital human papillomaviruses (HPVs), such as HPV 16 and HPV 18, has a critical role in initial changes that lead to cervical and probably other anogenital cancers. These observations prompted us to investigate the prevalence of cervical infection with genital human papillomaviruses in Tunisia. We used the polymerase chain reaction (PCR) to detect and type HPV DNA. The prevalence of HPV infection in a population of 106 Tunisian women recruited at the Offices Nationaux de la Famille et de Population (ONFP) was 13.6%. Molecular HPV typing indicated a high prevalence of HPV at high oncogenic risk; Our results indicate that the infection with genital human papillomaviruses is frequent in the Tunisian population.     

Nosocomial outbreak of acute gastroenteritis in a neonatal intensive care unit in tunisia caused by multiply drug resistantSalmonella wien producing SHV-2 beta-lactamase

In a Tunisian hospital 27 babies, including 12 who were premature, in a single intensive care unit suffered acute gastroenteritis in the period from January to May 1988. The mean age at the onset of gastroenteritis was 8.4 days; nine babies died.Salmonella wien was isolated from stools (all babies) and blood (4 babies). It was also isolated from the stools of one nurse and from a mattress. Twelve of the babies had received cefotaxime, which was successfully replaced by oral colimycin. The outbreak was stopped by the implementation of infection control measures. All isolates ofSalmonella wien were of the same biotype, and had the same antibiotic resistance pattern (third generation cephalosporins, monobactams, aminoglycosides, chloramphenicol, trimethoprim and sulphonamides) and plasmid DNA restriction pattern. The isolates were all susceptible to a combination of cefotaxime and clavulanic acid (a -lactamase inhibitor), which displayed synergy, suggesting the presence of a -lactamase (geometric mean MICs 11.24 µg/ml for cefotaxime alone and 0.24 µg/ml in combination with 0.1 µg/ml potassium clavulanate). All isolates produced TEM-1 and SHV-2 -lactamase which was not transferable toEscherichia coli by conjugation. The presence of the SHV-2 enzyme inSalmonella wien may allow it to adapt to newer -lactams which is a cause for concern in this hospital.     

The Effect of Ultrasonic Agitation on the Seedless Growth of Cu on Ru-W Thin Films

Ru attracted considerable attention as a candidate to replace TaN as a diffusion barrier layer for Cu interconnect metallisation. The addition of W improves the diffusion barrier properties of Ru but appears to weaken the adhesion strength between the barrier and Cu and the direct (seedless) electroplatability behaviour. Although Cu can be directly electroplated on near equimolar Ru-W thin films, no complete substrate coverage is obtained. The understanding of Cu electrocrystallisation on Ru–W is essential to develop methods of fabricating thin, continuous, and well adherent films for advanced interconnect metallisation, where Ru–W thin films could be used as diffusion barriers. This work studies the effect of ultrasonic agitation on the growth of Cu films electroplated on Ru–W, namely on the impact on substrate coverage. Film structure, morphology and chemical composition were evaluated by digital and scanning and transmission electron microscopies, and X-ray diffraction. The results show that Cu particles decrease with increasing current density, but when no electrolyte agitation is applied, substrate coverage is incomplete in the central region, with openings around larger Cu particles, regardless of current density. Under ultrasonic agitation, substrate coverage is remarkably improved. An active particle detachment mechanism is proposed as responsible for attaining improved substrate coverage, only possible at intermediate current density. Lower current densities promote growth over nucleation, whereas higher currents result in extensive hydrogen reduction/formation. Ultrasonic agitation also enhances a preferential Cu growth along <111> direction.     

Correlation of optic nerve sheath diameter measurements by computed tomography and magnetic resonance imaging

BackgroundTraditionally, intracranial pressure is measured by direct ventriculostomy, which is invasive. Noninvasive measures such as bedside ultrasound and magnetic resonance imaging have been advocated and utilized recently to assess the intracranial pressure. The role of this study is to determine the degree of agreement between measurements of the optic nerve sheath diameter by computed tomography (CT) and magnetic resonance imaging (MRI).Materials and MethodsRetrospective chart review of 100 consecutive patients who had both MRI and CT scan of the head from January 1, 2011, until March 31, 2013, at our center was performed. A discrepancy of 0.2 mm between the 2 measurements was set as acceptable difference. The measurements of optic nerve sheath diameter (ONSD) were compared for agreement between the 2 modalities using the method by Bland and Altman.ResultsA total of 100 patients with both MRI and CT scan of the head were selected. Of these 100 patients, 24 were male and 76 were female. The average age was 63 years. No ONSD abnormality was detected in any of the patients. The discrepancy in measurements of the ONSD between CT and MRI in transverse plane was less than the predetermined cut-off value of 0.2 mm. Within-subject variance was estimated at 0.0058 for both CT and MRI.ConclusionComparable results without significant discrepancy as predetermined by the study groups were obtained from CT scan. Measurement of ONSD by CT scan can be used to indirectly asses the intracranial pressure in addition to clinical assessment and other signs of increased intracranial pressure on CT scan.     

Real time optic nerve sheath diameter measurement during lumbar puncture

Measurement of optic nerve sheath diameter (ONSD) using point of care ultrasound has been used to indirectly assess the intracranial pressure (ICP) particularly in conditions where it is raised. Direct pressure measurements using probes reaching the ventricle system correlated with ONSD using ultrasound. Attempts were made to measure the ONSD pre and post lumbar puncture (LP) after draining cerebrospinal fluid (CSF) as well as post ventricular shunt placement. We report ONSD measurement and demonstrate dynamic changes during LP in a patient with known idiopathic intracranial hypertension (IIH).