Bowel obstruction due to ingestion of a water-absorbing bead.

Foreign body ingestion is a common pediatric complaint. Most foreign bodies pass spontaneously through the gastrointestinal tract, but bowel obstruction is a rare complication that can occur. We report a case of a 14-month-old infant with complete bowel obstruction due to ingestion of a polymer bead used for botanical arrangements. A laparotomy was performed to remove the object, resolving the symptoms. Polymer beads are brightly coloured and are of a size that is easy to swallow by very young children, increasing the risk of accidental ingestion. They increase in size over a short period of time during their passage through the gastrointestinal tract, causing significant morbidity.

[Clinical features and outcome of 2009 H1N1 influenza in the pediatric setting. Multicenter prospective study in the ED]. / Présentation clinique et évolution d'une population pédiatrique atteinte de la grippe A (H1N1)v. Enquête multicentrique prospective aux urgences pédiatriques.

STUDY OBJECTIVE: The clinical manifestations and outcome of infants and children with confirmed 2009 H1N1 influenza in emergency departments is described. METHODS: We conducted a prospective multicenter case series involving children with symptoms of influenza-like illness in whom 2009 H1N1 influenza was diagnosed on reverse-transcriptase polymerase chain reaction assay on a nasopharyngeal swab or nasal aspirates and who were admitted to the ED of four university pediatric hospitals. The following data were collected: age, gender, preexisting chronic conditions (PECs) associated with a high risk for influenza-related complications, clinical symptoms, outcome, antiviral treatment, and complications. We recorded length of cough and fever during a phone-call on day 8. RESULTS: Between 1st October and 31st December 2009, 466 children were included. Their median age was 4 years (range, 1 day to 17 years). The median time to consultation was 24h. Of these 466 infants and children, 55 were aged less than three months and 153 had one or more PECs. Asthma was the most frequent condition. Children at risk and children without risk did not differ for complications (28% vs 31%, P>0.05). Respiratory complications (17%) and decompensations of preexisting disease were the most frequent. Infants aged less than three months did not have more complications than infants without PECs. At-risk infants and children were more frequently hospitalized (P<0.02) and the duration of the pediatric ward stay was longer (P<0.02). This was true only for children aged less than three months. Of the hospitalized children, 17 (9%) were admitted to an ICU. Duration of fever (3.8 days) and duration of cough (6.3 days) did not differ according to whether or not children received oseltamivir. CONCLUSION: Infants younger than three months of age are not a group at risk for influenza-related complications. Oseltamivir did not reduce duration of symptoms in this population.

Lycopene inhibits proinflammatory cytokine and chemokine expression in adipose tissue.

Obesity is associated with a low-grade inflammation which is correlated with an increased secretion of pro-inflammatory cytokines and chemokines by adipose tissue, suspected to contribute to the development of insulin resistance. Because lycopene is mostly stored in adipose tissue and possesses anti-inflammatory properties, we hypothesize that lycopene could reduce the production of proinflammatory markers in adipose tissue. In agreement with this hypothesis, we observed a decrease of inflammatory markers such as IL-6, MCP-1 and IL-1ß at both the mRNA and protein level when explants of epididymal adipose tissue from mice fed with a high-fat diet were incubated with lycopene ex vivo. The same effect was reproduced with explants of adipose tissue preincubated in lycopene and then subjected to TNFα stimulation. The contribution of adipocytes and preadipocytes was evaluated. In both preadipocytes and differentiated 3T3-L1 adipocytes, lycopene preincubation for 24 h decreased the TNFα-mediated induction of IL-6 and MCP-1. Finally, the same results were reproduced with human adipocyte primary cultures. The molecular mechanism was also studied. In transient transfections, a decrease of the luciferase gene reporter under control of NF-κB responsive element was observed for cells incubated in the presence of lycopene and TNFα compared to TNFα alone. The involvement of the NF-κB pathway was confirmed by the modulation of IKKα/ß phosphorylation by lycopene. Altogether, these results showed for the first time a limiting effect of lycopene on adipose tissue proinflammatory cytokine and chemokine production. Such an effect could prevent or limit the prevalence of obesity-associated pathologies, such as insulin resistance.

A novel mutation (E333D) in the thyroid hormone beta receptor causing resistance to thyroid hormone syndrome.

Resistance to thyroid hormone (RTH) is an inherited syndrome characterized by elevated serum thyroid hormones (TH), failure to suppress pituitary thyroid stimulating hormone (TSH) secretion, and variable peripheral tissue responsiveness to TH. The disorder is associated with diverse mutations in the thyroid hormone beta receptor (TRbeta). Here, we report a novel natural RTH mutation (E333D) located in the large carboxy-terminal ligand binding domain of TRbeta. The mutation was identified in a 22-year-old French woman coming to medical attention because of an increasing overweight. Biochemical tests showed elevated free thyroxine (T4: 20.8 pg/ml (normal, 8.5-18)) and triiodothyronine (T3: 5.7 pg/ml (normal, 1.4-4)) in the serum, together with an inappropriately nonsuppressed TSH level of 4.7 mU/ml (normal, 0.4-4). Her father and her brother's serum tests also showed biochemical abnormalities consistent with RTH. Direct sequencing of the TRbeta gene revealed a heterozygous transition 1284A>C in exon 9 resulting in substitution of glutamic acid 333 by aspartic acid residue (E333D). Further functional analyses of the novel TRbeta mutant were conducted. We found that the E333D mutation neither significantly affected the affinity of the receptor for T3 nor modified heterodimer formation with retinoid X receptor (RXR) when bound to DNA. However, in transient transfection assays, the E333D TRbeta mutant exhibited impaired transcriptional regulation on two distinct positively regulated thyroid response elements (F2- and DR4-TREs) as well as on the negatively regulated human TSHalpha promoter. Moreover, a dominant inhibition of the wild-type TRbeta counterpart transactivation function was observed on both a positive (F2-TRE) and a negative (TSHalpha) promoter. These results strongly suggest that the E333D TRbeta mutation is responsible for the RTH phenotype in the proposita's family.

[Identification of eight new mutations in the c-erbAB gene of patients with resistance to thyroid hormone]. / Identification de huit nouvelles mutations dans le gène c-erbAB chez des patients atteints de résistance aux hormones thyroïdiennes.

Resistance to thyroid hormone (RTH) is a rare genetic disorder, usually associated with different mutations in the c-erbAB gene that encodes the beta type receptor of thyroid hormone (TRB). It is characterized by elevated serum thyroid hormone and inappropriate TSH secretion. The numerous mutations so far detected are clustered in three hot spot areas in the ligand binding domain of TRB. In the context of a national survey we have detected 16 different mutations in the c-erbAB gene, in 22 families presenting with RTH. Eight of these mutations had not been described previously. Two are located in an area not known to harbor naturally occurring mutations. This observation could lead to define a fourth cluster of mutations in the c-erbAB gene.

A novel resistance to thyroid hormone associated with a new mutation (T329N) in the thyroid hormone receptor beta gene.

Resistance to thyroid hormone (RTH) is a syndrome of elevated serum thyroxine, inappropriately "normal" serum thyrotropin (TSH) and reduced thyroid hormone responsiveness associated with point mutations in the thyroid hormone receptor-beta (TRbeta) gene. We describe a novel point mutation resulting in a cytosine for adenine substitution at nucleotide 1271 (exon 9) that results in the substitution of threonine for asparagine (T329N). This mutation was identified in a 30-year-old woman who was investigated for recurrent spontaneous abortions and was found to have RTH. Dextrothyroxine (D-T4) therapy was instituted. At 8 mg per day 2 pregnancies followed with the delivery of a healthy boy and an RTH-affected girl another miscarriage occurred on D-T4 treatment at 6 mg per day. The T329N mutation, which was also identified in the daughter, markedly reduces the affinity of TRbeta for triiodothyronine (T3). Formation of T329N mutant TR homodimers and heterodimers with RXRalpha on thyroid hormone response element F2 (TRE F2) was not affected, but the ability of T3 to interrupt T329N mutant TRbeta homodimerization was markedly reduced. The T329N mutant TRbeta was transcriptionally inactive in transient expression assays. In cotransfection assays with wild-type TRbeta1, the mutant TRbeta1 functioned in a dominant negative manner. The results suggest that the T329N mutation in the T3-binding domain of TRbeta is responsible for RTH in the proposita's family.

[Multicenter French cohort of adults with HIV infection. Description and course after 4 years of follow-up. SEROCO]. / Cohorte francaise multicentrique d'adultes infectés par le VIH. Description et évolution après 4 ans de suivi. SEROCO.

OBJECTIVES: A prospective multicentric epidemiological study (SEROCO) of subjects with a diagnosis of human immunodeficiency virus (HIV) infection was started on January 1, 1988 in order to better understand the natural history of HIV infection and factors related to outcome. Observations after 4 years of follow-up are reported here. METHODS: After authorization by the French national ethics committee and the national commission for personal freedom, 18 French centres included non-haemophiliac volunteers who were asymptomatic, had had non anti-HIV treatment and whose HIV positivity had been known less than 1 year at inclusion. These last three criteria were not required for patients whose precise date of contamination was known within a range of +/- 3 months. RESULTS: On July 15, 1992, there were 1453 infected subjects in the cohort (1063 males, 417 females; age range at inclusion 18-75 years; mean age 31.3 +/- 9.4). Globally, 2.7% of the subjects were symptomatic at inclusion. Mean CD4 lymphocyte count at inclusion was 508/mm3. Clinically, 51.5% of the patients had a history of sexually transmitted disease at inclusion. After 4 years (on July 15, 1992) mean follow-up was 28 +/- 12.9 months for a total of 3428 patient-years. Disease progression to stage IV was observed in 439 patients including 202 who developed the acquired immuno-deficiency syndrome (AIDS). Among these 202 patients, 113 had died at the end-point of this report. The first manifestation of AIDS was Kaposi sarcoma in 44, pulmonary pneumocystosis in 38 and cerebral toxoplasmosis in 27. The probability of developing AIDS was calculated at 13.9% at 5 years, 27.7% at 7 years and 33.7% at 10 years. The probability of a CD4 count below 200/mm3 was 32.7, 55.6 and 67% at 5, 7 and 10 years respectively. For patients with a CD4 count below 200, the probability of developing AIDS was 18% at 1 year, 39% at 2 years and 51% at 3 years. CONCLUSIONS: SEROCO has been a most useful prospective epidemiological tool due to the diversity of the subjects included. The observed natural history of HIV infection will lead to specific research projects aimed at better understanding the disease process.

Antiphospholipid syndrome as the second cause of non-tumorous Budd-Chiari syndrome.

In a prospective study of 22 patients with non-tumorous Budd-Chiari syndrome, four were found to have the antiphospholipid syndrome with no other cause of hepatic vein thrombosis. All four patients were young women. The antiphospholipid syndrome was secondary to systemic lupus in one case, to a "lupus-like disease" in another, and apparently primary in the remaining two cases. Two patients died. The other two are in good health on chronic oral anticoagulation. In our experience, the antiphospholipid syndrome is a frequent cause, after myeloproliferative disorders, of non-tumorous Budd-Chiari syndrome. In such patients, long-term anticoagulation may prevent recurrence or extension of thrombosis.

Localization of the thyroglobulin gene by in situ hybridization to human chromosomes.

The human thyroglobulin gene was mapped by in situ hybridization whereby a 3H-labeled recombinant plasmid DNA containing a fragment of 2.3 kilobases of human thyroglobulin gene was hybridized to human chromosome preparations. A high proportion (25%) of hybridized metaphases exhibited silver grains at the distal portion of the long arm of chromosome 8. Analysis of the grain position at this site indicated that the chromosomal localization of the human thyroglobulin gene was 8q242-8q243.