[Tuberculous cold abscess of the chest wall in children: A report of 3 cases].
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Abscess↗
Biomedical subjects
G Lenoir
Publications and source records attributed to G Lenoir.
[Body temperature measurement in daily practice].
The use of rectal mercury thermometer has long been the standard method for measurement of body temperature. The restriction of mercury use since 1996 has led to development of other devices. The liquid crystal strip thermometer held against the forehead has a low sensitivity. The single-use chemical thermometer measures oral temperature. Its accuracy must be evaluated. Infrared ear thermometers are routinely used because it is convenient and fast to use. However, numerous studies have shown that it does not show sufficient correlation with rectal temperature, leading to the risk to miss cases of true fever. Rectal temperature remains the gold standard in case of fever. Rectal temperature measurement with an electronic device is well correlated with the glass mercury standard. Galistan thermometer accuracy must be evaluated because of sterilization of the whole device, which is not the case for the electronic thermometer. A pediatric study is necessary to evaluate the performance of this device in comparison with the electronic thermometer.
Body Temperature↗
A new mutation of the noggin gene in a French Fibrodysplasia ossificans progressiva (FOP) family.
A new mutation of the Noggin gene in a French Fybrodysplasia ossificans progressiva (FOP) family: Fibrodysplasia ossificans progressiva (FOP) is a very rare disease characterized by congenital malformation of the great toes and progressive heterotopic ossification of the muscles. We previously located a FOP gene in the 17q21-22 region and described several mutations of the noggin (NOG) gene (located in 17q22) in four FOP patients, including the G91C mutation which is transmitted dominantly in a Spanish FOP family. We describe in the present study a new mutation of the NOG gene in a French FOP family. This new mutation is a guanine to adenine change at nucleotide 283 (283G --> A) of the NOG gene, and is transmitted in the family (in the heterozygote form) by the affected mother to her two affected children. At the peptide level this mutation (A95T) substitutes an Alanine residue by a Threonine at position 95 of the Noggin protein. The Alanine mutated residue is located just adjacent to the myristoylation site of the protein, where all the mutations we described until now are located.
Adenosine↗
Novel CFTR mutations in black cystic fibrosis patients.
Cystic fibrosis (CF) is considered as a rare disease in black Africans. In fact, this disease is likely to be underestimated since clinical features consistent with CF diagnosis are often ascribed to environmental factors such as malnutrition. Very little is known about CFTR mutations in affected patients from Central Africa. We report here four novel mutations, i.e., IVS2 + 28 (intron 2), 459T > A (exon 4), EX17a_EX18del (exons 17-18), and IVS22 + IG > A (intron 22), in such patients. An update of CFTR mutations reported in black patients from various ethnies is included. These data might be helpful for genetic counselling regarding CF in black patients.
Black People↗
Myocardial ischaemia in children with sickle cell disease.
BACKGROUND: The heart may be involved in children affected with sickle cell disease (SCD) via several mechanisms. Principally, chronic anaemia increases cardiac output and may cause left ventricular enlargement and cardiac insufficiency. AIMS: To investigate whether the heart also suffers from ischaemia in SCD, as has already been shown for other organs (bone, brain, etc), and to look for risk factors predisposing to this complication. METHODS: Twenty two children with SCD, and chest pain or ECG or echocardiographic signs (left ventricle dilation or hypokinesis) suggesting myocardial ischaemia were subjected to thallium-201 (201Tl) single photon emission computed tomography (SPECT). RESULTS: Eight children had a normal SPECT, 14 an abnormal one. Myocardial perfusion defects were reversible in nine, fixed in five. Patients with perfusion defects tended to be older and have more severe disease. Five had had cardiac symptoms (episodes of cardiac failure in three, ventricular fibrillation in one, angina in one). Myocardial perfusion was reassessed after six months of hydroxyurea treatment in three patients, and was found to be improved. CONCLUSIONS: Myocardial perfusion defects are present in children with SCD and may be demonstrated using SPECT. Hydroxyurea improved perfusion in three patients.
Adolescent↗
Antibiotic prevention of pneumococcal infections in asplenic hosts: admission of insufficiency.
Asplenic and hyposplenic patients have an increased risk for overwhelming pneumococcal infections, even several decades after splenectomy. Pneumococcal vaccination and daily oral administration of penicillin V are recommended to prevent such infections, 2-5 years after splenectomy, and for at least 5 years in children affected with sickle cell disease. In order to assess whether the infectious risk is actually known and prevented, we interviewed physicians (belonging to a general practitioner and pediatrician network) who followed patients having undergone a splenectomy and/or children with sickle cell disease under 5 years of age. We received replies from 104 physicians monitoring 152 patients replied. Potential infection risk was not known for 28% of the asplenic patients and 40% of the children with sickle cell disease. Only 75% of the asplenic patients and 36% of the children with sickle cell disease had been vaccinated against pneumococcus. Of the patients who had undergone splenectomy, 27% had been treated with an antibiotic after surgery and 60% had discontinued it, the vast majority of them during the same year. Of the children with sickle cell disease, 48% were not receiving an antibiotic. This study demonstrates that risk of infections in asplenic patients is widely misunderstood, indicating the urgent need to improve their management.
Adolescent↗
Cytology vs molecular analysis for the detection of head and neck squamous cell carcinoma in oesopharyngeal brush samples: a prospective study in 56 patients.
Oesopharyngeal brush (OPB) sampling with cytological analysis can yield exfoliated cells from asymptomatic tumours of the upper aero-digestive tract and the oesophagus. In this study, we compared cytological evaluation and molecular analysis for the detection of exfoliated cancer cells sampled with an OPB. A total of 56 patients with a known unique head and neck squamous cell carcinoma (HNSCC) and five healthy controls were enrolled prospectively. Exfoliated cells from these 61 patients were collected with an OPB before initial endoscopy. p53 mutations and UT 5085 microsatellite instability (MI) were analysed in the HNSCC tumour, lymphocytes and the corresponding OPB DNA samples. p53 mutations and UT5085 MI were detected in 31 out of 56 and 14 out of 56 HNSCC, respectively, but not in any of the five controls. Direct sequencing of p53 was able to detect mutations in OPB DNA in only two out of 29 patients harbouring a p53-mutated primary tumour. Microsatellite instability was detected in OPB DNA of 11 out of 13 informative (bandshift detected in tumour) patients, whereas cytological analysis detected abnormal cells in only six of the same 13 patients (P=0.03). In informative patients, all positive OPB samples at cytological analysis were also positive at molecular analysis of UT5085, and both analyses confirmed the two negative samples. Molecular analysis of OPB from eight uninformative patients and from five healthy controls were all negative. OPB sampling with MI-based molecular analysis could be efficient for early detection of recurrent HNSCC. This result prompts us to use other microsatellite markers in order to maximise the percentage of informative patients.
Allelic Imbalance↗
[Phenotypic and genotypic characteristics of non fermenting atypical strains recovered from cystic fibrosis patients].
We used partial 16S rRNA gene (16S DNA) sequencing for the prospective identification of nonfermenting Gram-negative bacilli recovered from patients attending our cystic fibrosis center (hôpital Necker-Enfants malades), which gave problematic results with conventional phenotypic tests. During 1999, we recovered 1093 isolates of nonfermenting Gram-negative bacilli from 702 sputum sampled from 148 patients. Forty-six of these isolates (27 patients) were not identified satisfactorily in routine laboratory tests. These isolates were identified by 16S DNA sequencing as Pseudomonas aeruginosa (19 isolates, 12 patients), Achromobacter xylosoxidans (10 isolates, 8 patients), Stenotrophomonas maltophilia (9 isolates, 9 patients), Burkholderia cepacia genomovar I/III (3 isolates, 3 patients), Burkholderia vietnamiensis (1 isolate), Burkholderia gladioli (1 isolate) and Ralstonia mannitolilytica (3 isolates, 2 patients). Fifteen isolates (33%) were resistant to all antibiotics in routine testing. Sixteen isolates (39%) resistant to colistin were recovered on B. cepacia-selective medium: 2 P. aeruginosa, 3 A. xylosoxidans, 3 S. maltophilia and the 8 Burkholderia--Ralstonia isolates. The API 20NE system gave no identification for 35 isolates and misidentified 11 isolates (2 P. aeruginosa, 2 A. xylosoxidans and 1 S. maltophilia classified as B. cepacia ). Control measures and/or treatment were clearly improved as a result of 16S DNA sequencing in three of these cases. This study confirms the weakness of phenotypic methods for identification of atypical nonfermenting Gram-negative bacilli recovered from cystic fibrosis patients. The genotypic methods, such as 16S DNA sequencing which allows identification of strains in routine practice, appears to have a small, but significant impact on the clinical management of CF patients.
Achromobacter↗
Insulin-like growth factor I correlates with lean body mass in cystic fibrosis patients.
BACKGROUND: A major consequence of malnutrition in cystic fibrosis (CF) patients is the loss of lean body mass (LBM) and the subsequent impairment of respiratory muscle function. AIM: To determine whether insulin-like growth factor I (IGF-I) could be related to the LBM depletion and the evolution of respiratory disease in CF patients. METHODS: LBM was evaluated by dual energy x ray absorptiometry; serum concentrations of IGF-I were measured in 24 CF patients twice with a one year interval. Both values were expressed as SD score (SDS) calculated from normal data for age, sex, and pubertal stage and analysed with respect to anthropometric evaluation and disease related conditions. RESULTS: At the initial evaluation, IGF-I SDS had a mean value of -0.98 (range -3.6 to 3.2) and correlated with weight for age index, LBM SDS, and lung disease related conditions. Multiple regression analysis showed that only LBM remained independently related to IGF-I, suggesting that the relation of IGF-I to LBM was independent of weight and that the correlation between IGF-I and the respiratory conditions was related to the level of LBM. IGF-I SDS at the first evaluation was lower for the patients who lost > or =5% of weight for age index or > or =1 SD of LBM between the two evaluations. CONCLUSION: Low levels of IGF-I could be crucial for clinical outcome by impairing LBM and respiratory function. IGF-I could be a tool for nutritional evaluation by identifying the CF patients at risk of LBM depletion.
Absorptiometry, Photon↗
[New therapeutic approaches to Cystic fibrosis].
Since the cloning of the defective gene in cystic fibrosis, much has been learned on the function of CFTR and on the mechanisms regulating its expression. Based on the current understanding of the processes involved in lung disease progression, a number of approaches have been developed using gene therapy and pharmacological agents. Several of these agents have been reported to restitute a function to CFTR with specific mutations. Other molecules act on channels other than CFTR, and may be effective by bypassing CFTR itself. In the present review the various therapeutical strategies currently investigated are discussed.
Colchicine↗
Absence of association between HPV DNA, TP53 codon 72 polymorphism, and risk of oesophageal cancer in a high-risk area of China.
We analyzed TP53 codon 72 polymorphism, HPV DNA in 32 subjects with oesophageal cancer and 57 healthy subjects with normal oesophageal cytology from an area of China with a high prevalence for this cancer (Linxian County, Henan Province). The frequency of the proline allele (0.63) was significantly higher in the Chinese population than in most European or American populations. No significant association was found between TP53 codon 72 genotype and cancer. We also found a low prevalence of HPV DNA (6.7%) in both cancer cases and healthy subjects. Our findings do not support the association between risk of oesophageal cancer, human papilloma virus infection, and TP53 codon 72 polymorphism in a Chinese population at high risk of oesophageal cancer.
Adult↗
[Dermoid cysts revealed by meningitis with medullary compression].
UNLABELLED: The spinal dermal sinus tracts in the lumbosacral region are not usually recognized, especially when they are not associated with other cutaneous lesions. In these sites, the sinus tracts communicate with the dura in 90% of cases, leading to an important risk of meningitis. CASE REPORTS: Two infants (9 and 12 months old) were hospitalized for meningitis. The hospitalization was preceded two weeks earlier by stubborn constipation, which revealed a neural compression. The physical and MRI examination showed a lumbosacral sinus in contact with a dermoid or an epidermoid tumor. These cysts were infected with anaerobic organisms. Despite surgery and antibiotic therapy, one child remained paraplegic. CONCLUSION: Dermal sinuses above the intergluteal crease should be surgically excised at the time of diagnosis in all patients, regardless of the patient's age or neurologic findings.
Bacteria, Anaerobic↗
Sputum itraconazole concentrations in cystic fibrosis patients.
Itraconazole diffusion in sputum was studied in 11 cystic fibrosis patients with allergic bronchopulmonary aspergillosis. There was a high interindividual variability in sputum itraconazole concentration and sputum/serum drug concentration ratio. Three children had sputum drug concentrations before oral administration that were lower than the itraconazole MIC at which 90% of Aspergillus fumigatus strains were inhibited, although their serum drug concentrations were within the therapeutic range.
Adolescent↗
Hereditary hypophosphatemic rickets with hypercalciuria: report of a new kindred.
We report a new kindred of hereditary hypophosphatemic rickets with hypercalciuria. The symptomatic child and several relatives had increased renal phosphate clearance leading to hypophosphatemia, hyperabsorptive hypercalciuria, low PTH and increased 1,25-(OH)2D serum level. However, association with vitamin D deficiency and normal urinary excretion of cyclic AMP might suggest another tubular defect in phosphate transport.
Calcium↗
TP53 polymorphism, HPV infection, and risk of cervical cancer.
The role of a polymorphism at position 72 of the tumor suppressor gene TP53 in the development of cervical cancer is not well established. The arginine variant of the p53 protein could be more susceptible to degradation by human papillomavirus (HPV) E6 protein than the protein containing proline. Recent studies show controversial results. We investigated a possible association between TP53 polymorphism and cervical cancer in a Peruvian population with high prevalence of HPV infection. HPV status and TP53 polymorphism were determined for 119 cases of invasive cervical cancer and 127 control women from Peru. HPV infection was detected by PCR of cervical cells or tumor biopsies. For determination of TP53 polymorphism, exon 4 of the TP53 gene was amplified by PCR, and DNA was subsequently subjected to restriction enzyme digest. Associations between TP53 polymorphism, HPV infection, and cervical cancer were assessed using logistic regression. Women homozygotes for arginine had a 2.2-fold increased risk (95% confidence interval: 0.6-7.6) for cervical cancer. The odds ratio for women heterozygotes for Arg/Pro was 3.5 (95% confidence interval: 0.9-14). Similarly increased risks were found when restricting analysis to HPV-positive women only. The distribution of TP53 genotypes in this Peruvian population was comparable with that found in Caucasians. Our results cannot rule out an association between the TP53 polymorphism at codon 72, HPV infection, and the etiology of cervical cancer.
Adult↗
Odorant and pheromone binding by aphrodisin, a hamster aphrodisiac protein.
Aphrodisin is a soluble glycoprotein of hamster vaginal discharges, which stimulates male copulatory behavior. Natural aphrodisin was purified and its post-translational modifications characterized by MALDI-MS peptide mapping. To evaluate its ability to bind small volatile ligands, the aphrodisiac protein was expressed in the yeast Pichia pastoris as two major isoforms differing in their glycosylation degree, but close in conformation to the natural protein. Dimeric recombinant aphrodisins were equally able to efficiently bind odors (2-isobutyl-3-methoxypyrazine and methyl thiobutyrate) and a pheromone (dimethyl disulfide), suggesting that they could act as pheromone carriers instead of, or in addition to, direct vomeronasal neuron receptor activators.
Animals↗
Molecular characterization of germline NF2 gene rearrangements.
Neurofibromatosis type 2 (NF2) is an autosomal dominant disease that causes a predisposition to nervous system tumors. Deleterious point mutations have been found in about 55% of NF2 patients, and large genomic deletions account for approximately 33% of NF2 gene alterations. The majority of these deletions are larger than 50 kb, with a breakpoint usually lying outside the NF2 gene. We identified two cases of intragenic deletion with loss of 1.5 and 40 kb, respectively. In both cases, one boundary of the deletion was located in or at the proximity of an SVA sequence in NF2 intron 4. No sequence identity longer than 5 bases and no signal of specific recombination have been evidenced on either side of the deletion breakpoints. These observations are compatible with a nonhomologous recombination being responsible for the genomic deletions. In a third case, a paracentric inversion of chromosome 22 was found. This chromosomal rearrangement breaks the NF2 gene in two parts and carries the first NF2 exon in a juxta-centromeric position. The variability in position of the deletions and the observation of a new chromosomal rearrangement in the NF2 gene underscore the importance of FISH analysis in the molecular diagnosis of NF2.
Base Sequence↗
Identification of a novel mutation, 1087delT, in exon 7 of the CFTR gene in a patient with cystic fibrosis.
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Adolescent↗