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F Huet

Publications and source records attributed to F Huet.

At least 19 recordsLinked to original sources
PubMed2006

Major feeding difficulties in the first reported case of interstitial 20q11.22-q12 microdeletion and molecular cytogenetic characterization.

We report on a 4-year-old female presenting with intrauterine growth retardation, facial dysmorphic features, major feeding difficulties with severe diarrhea and vomiting, mental retardation with abnormal behavior and hypertonia. Feeding difficulties were the most invalidating features with absent oral intake requiring persistent enteral feeding. Standard cytogenetic studies were normal, but high-resolution chromosome analyses revealed a small de novo interstitial deletion of the long arm of chromosome 20, 46,XX,del(20)(q11.21q12). The deletion was confirmed using metaphase comparative genomic hybridization (CGH) and multicolor high resolution banding (mBAND). The deletion breakpoints were characterized using FISH analyses with YACs, PACs, and BACs clones located in the deleted and adjacent regions. A 6.6-Mb deleted region between markers D20S815 (20q11.22) and D20S435 (20q12) could be delineated. None of the nine previously reported cases with interstitial 20q deletion found in the literature involve the same breakpoints. This report further emphasizes the indication of high-resolution chromosome analyses in children with syndromic mental retardation. The description of additional cases would be useful in order to better characterize the phenotype of patients with proximal interstitial 20q deletion.

Abnormalities, Multiple↗
PubMed2006

[Evaluation of a formula with low protein content and supplemented with probiotic agents after breast milk weaning].

UNLABELLED: Besides assuring growth and development in early infancy, human breast milk plays a key role in preventing infections, in particular by favouring the growth of bifidobacteria. The development of infant formulas containing probiotic agents consequently represents a significant advance in the provision of an optimal alternative to breast feeding when this is not feasible. A further concern is to avoid an excessively high protein content relative to breast milk, potentially favouring obesity in later life. OBJECTIVES: The objective of this open Multicenter comparative study was to demonstrate that a new infant formula, characterized by a reduced protein content and the presence of a probiotic agent, was as effective as conventional formulas in assuring growth during the first months of life. POPULATION AND METHODS: The study population comprised full-term healthy infants with an age at inclusion of 1-28 days, whose mothers no longer wished to continue breast feeding or were unable to breast feed. The test formula (GE), enriched with Bifidobacterium lactis, had a protein content of 1.5 g/100 ml. The primary end point was daily weight gain from day 0 to day 90. Secondary end points were daily increase in height and cranial circumference, overall and gastrointestinal tolerance and formula acceptability. A total of 203 infants were included in the analysis, 117 receiving GE and 86 the formula habitually prescribed by the paediatrician. RESULTS: Daily gains in weight, height and cranial circumference did not differ significantly between the groups. The rates of overall and gastrointestinal adverse events were comparable in the two groups and the acceptability of GE was consistently good, similar to that of the standard formulas. CONCLUSION: The results of this study demonstrated that the new probiotic infant formula GE has equivalent efficacy to conventional formulas in achieving growth in early infancy, and is well tolerated.

Bifidobacterium↗
PubMed2006

Colorectal cancer (CRC) screening using sigmoidoscopy followed by colonoscopy: a feasibility and efficacy study on a cancer institute based population.

BACKGROUND: Advanced distal neoplasia found at sigmoidoscopy could be the marker for more proximal lesions. PATIENTS AND METHODS: In the setting of a screening clinic, subjects underwent flexible sigmoidoscopy. If no significant lesion was found, sigmoidoscopy was planned after 5 years. If an advanced neoplasia was found, colonoscopy was performed just after the first sigmoidoscopy and at 1, 3 and 5 years. If a non-advanced neoplasia was found, sigmoidoscopy was performed at 1, 3 and 5 years and followed by colonoscopy if advanced lesion was found. RESULTS: At first screening 1704/1912 (88%) subjects had a negative sigmoidoscopy, 104 (5.4%) had an advanced neoplasia, 96 (6%) had a non-advanced neoplasia and eight (0.4%) had invasive colorectal cancer (CRC). At follow-up examinations at 1, 3 and 5 years, among 170 subjects with advanced and non-advanced neoplasia, one developed invasive CRC and 47 (31.6%), advanced neoplasia. At 5 years, among 718 first negative sigmoidoscopies, 572 (80%) were confirmed negative and 97 (14%) had advanced neoplasia. Colorectal cancer status at 5 years could be checked for interval cancers in 97% of subjects and no CRC was diagnosed in subjects who did not attend sigmoidoscopy at 5 years. Comparison of the incidence of invasive CRC to the data of registries of the Netherlands and Luxembourg suggested that the incidence of CRC was decreased by 36%-46%. Seven of the nine CRCs were Duke's A and the two others were Duke's B and C. CONCLUSIONS: Screening with sigmoidoscopy followed by colonoscopy in case of positive sigmoidoscopy leads to substantial decreases in the incidence of CRC. Most CRCs found are at an early, curable stage of their development.

Aged↗
PubMed2006

Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study.

Oral-facial-digital syndrome type 1 (OFD1) is characterised by an X linked dominant mode of inheritance with lethality in males. Clinical features include facial dysmorphism with oral, tooth, and distal abnormalities, polycystic kidney disease, and central nervous system malformations. Large interfamilial and intrafamilial clinical variability has been widely reported, and 18 distinct mutations have been previously reported within OFD1. A French and Belgian collaborative study collected 25 cases from 16 families. OFD1 was analysed using direct sequencing and phenotype-genotype correlation was performed using chi2 test. X inactivation studies were performed on blood lymphocytes. In 11 families, 11 novel mutations, including nine frameshift, one nonsense, and one missense mutation were identified, which spanned nine different exons. A combination of our results with previously reported cases showed that the majority of mutations (65.5%) was located in exons 3, 8, 9, 13, and 16. There was phenotype-genotype correlation between (a) polycystic kidney disease and splice mutations; (b) mental retardation and mutations located in exons 3, 8, 9, 13, and 16; and (c) tooth abnormalities and mutations located in coiled coil domains. Comparing the phenotype of the families with a pathogenic mutation to families with absence of OFD1 mutation, polycystic kidneys and short stature were significantly more frequent in the group with no OFD1 mutation, whereas lingual hamartomas were significantly more frequent in the group with OFD1 mutation. Finally, an X inactivation study showed non-random X inactivation in a third of the samples. Differential X inactivation between mothers and daughters in two families with high intrafamilial variability was of particular interest. Slight phenotype-genotype correlations were established, and X inactivation study showed that skewed X inactivation could be partially involved in the pathogenesis of intrafamilial clinical variability.

Adult↗
PubMed2003

Gastric outlet obstruction by an antral mucosal diaphragm: a case of a congenital anomaly revealed by an acquired disease.

Congenital antral membrane may become symptomatic early in life or late in childhood. A gastric outlet obstruction was revealed in a 14-month-old girl, previously developing well until 3 days ago, by melaena and recurrent non-bilious vomiting, after administration of a non-steroidal anti-inflammatory drug for fever. Plain X-ray performed during the neonatal period was normal. Despite ultrasonography, contrast radiography and endoscopy, the correct diagnosis was made at surgery; the obstruction was due to an inflammatory, thickened membrane with mucosal oedema reducing the central aperture of the diaphragm. This case emphasizes that if antral membrane diaphragm is congenital, the onset of symptoms may result from an additional acquired lesion.

Diaphragm↗
PubMed2002

Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy.

Generalised lipodystrophy of the Berardinelli-Seip type (BSCL) is a rare autosomal recessive human disorder with severe adverse metabolic consequences. A gene on chromosome 9 (BSCL1) has recently been identified, predominantly in African-American families. More recently, mutations in a previously undescribed gene of unknown function (BSCL2) on chromosome 11, termed seipin, have been found to be responsible for this disorder in a number of European and Middle Eastern families. We have studied the genotype/phenotype relationships in 70 affected subjects from 44 apparently unrelated pedigrees of diverse ethnic origin. In all subjects, hepatic dysfunction, hyperlipidaemia, diabetes mellitus, and hypertrophic cardiomyopathy were significant contributors to morbidity with no clear differences in their prevalence between subjects with BSCL1 or BSCL2 and those with evidence against cosegregation with either chromosome 9 or 11 (designated BSCLX). BSCL2 appears to be a more severe disorder than BSCL1 with a higher incidence of premature death and a lower prevalence of partial and/or delayed onset of lipodystrophy. Notably, subjects with BSCL2 had a significantly higher prevalence of intellectual impairment than those with BSCL1 or BSCLX (p<0.0001, OR 17.0, CI 3.6 to 79.0). The higher prevalence of intellectual impairment and the increased risk of premature death in BSCL2 compared to BSCL1 emphasise the importance of molecular diagnosis of this syndrome and have clear implications for genetic counselling.

Adolescent↗
PubMed2001

A new synthesis of 2-azabicyclo[2.1.1]hexanes.

An efficient synthesis of the 2-azabicyclo[2.1.1]hexane ring system has been accomplished starting from cis-cyclobut-3-ene-1,2-dicarboxylic anhydride 7, which was prepared using a photochemical method. The key step of this new strategy involved a stereoselective electrophilic addition of phenylselenyl bromide to the double bond of cyclobutene dicarbamate 16 derived from 7. The subsequent ring closure of 17a in the presence of sodium hydride afforded the 2-azabicyclohexane compound 18 with a satisfying overall yield. Reductive removal of the phenylselenyl group and subsequent deprotection led rapidly to the amino derivative 4a functionalized on the carbon ring. Syntheses of the hydroxy and carboxylic derivatives 4b,c were then achieved from the intermediary disulfonamide 23. Displacement of the activated amino group by potassium acetate yielded hydroxy derivative 4b after three additional steps. Finally, oxidation of the alcohol function of 4b under Jones conditions followed by hydrogenolysis afforded the carboxylic derivative 4c, which is the first reported beta-isomer of 2,4-methanoproline 1.

Journal Article↗
PubMed2001

A short stereoselective preparation of dienamides from cyclobutene compounds. Application in the synthesis of a new cyclohexene nucleoside.

A short stereoselective synthesis of N-acylamino-1,3-dienes was developed starting from the cyclobutene lactam 8, which was obtained from 2-hydroxypyridine by a photochemical electrocyclic reaction. The tert-butoxycarbonyl derivative 17 was prepared to facilitate nucleophilic attacks to the carbonyl group, and the subsequent thermal ring opening provided dienes 18-21. One of these (20) was used in the synthesis of the cyclohexene nucleoside 30. A Diels-Alder reaction between diene 20 and maleic anhydride provided the endo-cycloadduct 22a. Three additional steps yielded amine 26. Construction of the uracil moiety afforded intermediate 29. Cyclization and removal of the protecting groups occurred in one step in the presence of ammonia, giving the target molecule 30. Diene 20 also underwent [4 + 2] cycloaddition with methyl acrylate to provide predominantly the endo-product 23a, regioselectively.

Cyclohexanes↗
PubMed2001

Evaluation of a low-invasive strategy for prostate cancer screening with prostate-specific antigen.

OBJECTIVES: To evaluate a two-step strategy for the detection of prostate cancer within the context of serial screening and compare this strategy with other screening strategies. The optimal combination of tests proposed for prostate cancer screening remains undetermined, particularly when screening is repeated over time. METHODS: A prospective serial prostate cancer screening study with follow-up to 55 months was performed in a general community screening clinic. One thousand seven hundred seven self-referred men, 50 to 75 years old, without a history of prostate cancer agreed to undergo screening for prostate cancer on an annual basis. Serum prostate-specific antigen (PSA) measurement was the first-step screening test. If the serum PSA test was positive, a standard urologic evaluation was performed. Biopsy was recommended only if a test other than serum PSA was suspicious for cancer. The outcome measures were the biopsy rate and prostate cancer detection rate. The comparisons with other studies were age-standardized to correct for differences in age distribution. RESULTS: The biopsy and cancer detection rates after the first test were 7.0% and 2.0%, respectively. After 4 years of the study, the cumulative biopsy rate and cumulative cancer detection rate per enrolled man was 12% and 4.1%, respectively. The comparisons between studies revealed that screening strategies using serum PSA as a first-line test had similar detection rates but lower biopsy rates than strategies performing biopsy when one of several screening tests was positive. CONCLUSIONS: A two-step screening strategy using serum PSA alone as the initial test seemed able to detect as many cancers as when all screening tests were used at the same time but reduced the number of unnecessary biopsies.

Aged↗
PubMed2001

[Bullous cutaneous mastocytosis revealed by acute disease secondary to morphine administration].

UNLABELLED: Mastocytosis in children shows in three clinical forms. The rarest is the diffuse or bullous form. CASE REPORT: Since one month of age an infant showed a diffuse erythema and vesicle rash. At four months of age, serious discomfort after morphinic absorption led to the diagnosis of bullous cutaneous mastocytosis. Histologic examination confirmed this diagnosis. The clinical severity led to intravenous corticosteroid and antihistamine therapy. COMMENTS: Bullous cutaneous mastocytosis is unusual in children. However, it should be considered if there are any doubts because of its serious complications and iatrogenic therapeutic risks. Some serious cases require intravenous corticosteroid therapy. Appropriate care enables a normal development with a disappearance of the disease before the teenage years.

Acute Disease↗
PubMed2001

Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.

Congenital generalized lipodystrophy, or Berardinelli-Seip syndrome (BSCL), is a rare autosomal recessive disease characterized by a near-absence of adipose tissue from birth or early infancy and severe insulin resistance. Other clinical and biological features include acanthosis nigricans, hyperandrogenism, muscular hypertrophy, hepatomegaly, altered glucose tolerance or diabetes mellitus, and hypertriglyceridemia. A locus (BSCL1) has been mapped to 9q34 with evidence of heterogeneity. Here, we report a genome screen of nine BSCL families from two geographical clusters (in Lebanon and Norway). We identified a new disease locus, designated BSCL2, within the 2.5-Mb interval flanked by markers D11S4076 and D11S480 on chromosome 11q13. Analysis of 20 additional families of various ethnic origins led to the identification of 11 families in which the disease cosegregates with the 11q13 locus; the remaining families provide confirmation of linkage to 9q34. Sequence analysis of genes located in the 11q13 interval disclosed mutations in a gene homologous to the murine guanine nucleotide-binding protein (G protein), gamma3-linked gene (Gng3lg) in all BSCL2-linked families. BSCL2 is most highly expressed in brain and testis and encodes a protein (which we have called seipin) of unknown function. Most of the variants are null mutations and probably result in a severe disruption of the protein. These findings are of general importance for understanding the molecular mechanisms underlying regulation of body fat distribution and insulin resistance.

Acanthosis Nigricans↗