[Pseudohypoparathyroidism: new diagnostic and therapeutic approaches].
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Child↗
Biomedical subjects
E Mallet
Publications and source records attributed to E Mallet.
[Syncope during bathing in infants, a pediatric form of water-induced urticaria?].
BACKGROUND: Apparent life-threatening events in infants are a difficult and frequent problem in pediatric practice. The prognosis is uncertain because of risk of sudden infant death syndrome. CASE REPORTS: Eight infants aged 2 to 15 months were admitted during a period of 6 years; they suffered from similar maladies in the bath: on immersion, they became pale, hypotonic, still and unreactive; recovery took a few seconds after withdrawal from the bath and stimulation. Two diagnoses were initially considered: seizure or gastroesophageal reflux but this was doubtful. The hypothesis of an equivalent of aquagenic urticaria was then considered; as for patients with this disease, each infant's family contained members suffering from dermographism, maladies or eruption after exposure to water or sun. All six infants had dermographism. We found an increase in blood histamine levels after a trial bath in the two infants tested. The evolution of these "aquagenic maladies" was favourable after a few weeks without baths. After a 2-7 year follow-up, three out of seven infants continue to suffer from troubles associated with sun or water. CONCLUSION: "Aquagenic maladies" could be a pediatric form of the aquagenic urticaria.
Baths↗
Clinical and biological heterogeneity in pseudohypoparathyroidism syndrome. Results of a multicenter study.
Pseudohypoparathyroidism (PHP) is a rare inherited syndrome frequently associated with Albright's hereditary osteodystrophy (AHO). We conducted a multicenter study including 71 PHP children and 77 relatives. Erythrocyte Gsalpha biological activity was measured in each patient (normal range 85-110%). 61 patients were classified into four subtypes based on clinical and endocrine data and Gsalpha activity: 45 PHP Ia, 8 PHP Ib, 2 PHP II, and 6 PHP Ic. PHP Ia had decreased Gsalpha (58 +/- 9%), PHP Ib patients had PTH resistance, no AHO and normal Gsalpha (96 +/- 9%), PHP Ic patients had PTH resistance, AHO and no decreased Gsalpha (97 +/- 13%). The 10 remaining patients were considered to have pseudo-pseudohypoparathyroid (Pseudo-PHP) and were divided into two subtypes. One subtype had decreased Gsalpha and the second subtype had normal Gsalpha activity. The heterogeneous expression of Pseudo-PHP and thyrotropin resistance, which preceded parathyroid hormone resistance in 24% of the children, suggested that PHP might be a gradually evolving disease. GRF resistance was found in 4 out of 9 children investigated. The pedigree analysis showed PHP Ia had a dominant mode of inheritance with increased severity through generations. Pedigree analysis did not support a genomic imprinting hypothesis. Two children out of 9 had a chromosome 2 abnormality. This study confirms that Gsalpha activity is a significant marker in the diagnosis and classification of PHP.
Adolescent↗
Anatomical distribution of somatostatin receptors in the brainstem of the human fetus.
The distribution of somatostatin binding sites was studied in the pons and medulla oblongata of three human fetuses (gestional ages 26, 28 and 30 weeks). The study was carried out by in vitro quantitative autoradiography using either [125I-Tyr0,D-Trp8]somatostatin-14 or [125I-Tyr11]somatostatin-14 as radioligands. Somatostatin binding sites were observed in a number of nuclei subserving sensory, motor or integrative functions within the pons and medulla. In addition, discrete tracts also contained significant amounts of binding sites. Among structures involved in sensory processes, a high density of binding sites (40-60 fmol/ mg wet tissue) was measured in the dorsal cochlear nucleus and in the nucleus tractus spinalis trigemini caudalis. Moderate to high levels of binding sites (30-40 fmol/mg wet tissue) were detected in the other sensory cranial nerve nuclei. A moderate density of sites (15-30 fmol/mg wet tissue) was measured in most motor nuclei, the highest concentrations being observed in the dorsal motor nucleus of the vagus nerve, the facial nucleus, the hypoglossal nucleus and the nucleus ambiguus. The griseum pontis and the nucleus corporis pontobulbaris contained very high (> 60 fmol/mg wet tissue) and high concentrations of somatostatin binding sites, respectively, while the other relay nuclei contained low to moderate levels of binding. In monoaminergic nuclei, very high and moderate to high concentrations of somatostatin binding sites were measured in the nucleus locus coeruleus and in its dorsal subnucleus, respectively. Moderate densities of sites were detected in the ventral subnucleus of the nucleus locus coeruleus and in the different parts of the raphe. In the white matter, low levels of binding were measured in the inferior cerebellar peduncle, the lateral and median lemnisci and the tractus solitarius. Conversely, moderate to high concentrations of somatostatin binding sites were measured in the median and superior cerebellar peduncles. The pyramis contained a very high density of recognition sites. A marked heterogeneity in the density of binding sites was observed within a few structures particularly in the medial accessory olivary of nucleus and the medial longitudinal fasciculus. Selective ligands were used to determine the pharmacological profile of the [Tyr11]somatostatin-14 binding sites in various brainstem regions. In the dorsal cochlear nucleus and the pyramis, all somatostatin binding sites belonged to the SSA subtype. Conversely, in the lateral paragigantocellular nucleus, all somatostatin binding sites belonged to the SSB subtype. The other regions studied contained various proportions of SSA and SSB subtypes. In conclusion, the present study shows that high concentrations of somatostatin receptors are present in many regions of the human fetus brainstem. These data support the concept that somatostatin could be involved in the maturation of brain structures.
Age Factors↗
[Sleeping position, prevention of sudden death syndrome and gastroesophageal reflux].
Based on results of epidemiological studies, dorsal or lateral sleeping positions are now recommanded in the prevention of sudden infant death syndrome (SIDS). This raises an ethical question about the attitude towards the ventral positioning therapy for gastroesophageal reflux (GOR). The consensus conference considers that the ventral position should only be recommanded in GOR when the benefit appears to outweigh the risk of SIDS that it induces. The conference proposes that for infants with simple uncomplicated reflux, sleeping in the prone position should not be introduced in the first line treatment. Prone positioning should be restricted to complicated cases resistant to dietary and medical measures.
Gastroesophageal Reflux↗
[Incidence of sudden infant death and outcome of sleep position in Seine-Maritime].
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Humans↗
The A985 to G mutation of the medium-chain acyl-CoA dehydrogenase gene and sudden infant death syndrome in Normandy.
Medium-chain acyl-CoA dehydrogenase deficiency is the most common genetic defect of hepatic fatty acid oxidation. Clinical signs are somnolence and lethargy potentially leading to coma. Death occurs during the first attack in about 20% of cases, suggesting sudden infant death syndrome. A point mutation (adenine to guanine at position 985) in exon 11 of the medium-chain acyl-CoA dehydrogenase gene accounts for 90% of medium-chain acyl-CoA dehydrogenase deficiency-causing alleles. Such a high prevalence of a single mutation makes it possible to estimate the incidence of medium-chain acyl-CoA dehydrogenase deficiency in the general population and in sudden infant death syndrome. The study was performed by polymerase chain reaction amplification from blood spots on filter paper in 2000 randomly selected newborns (group I) and in 225 infants dead from sudden infant death syndrome (group II). Among 2000 newborns, 17 were found to be heterozygote for the G985 mutation. In group II, one child was found with a single copy of the G985 mutation. So, the estimated frequency of the G985 mutation in the general population was 1/118 and the incidence of medium-chain acyl-CoA dehydrogenase deficiency was calculated as around 1/45,000 in Normandy.
Acyl-CoA Dehydrogenases↗
Clonal and temporal patterns of nasopharyngeal penicillin-susceptible and penicillin-resistant Streptococcus pneumoniae stains in children attending a day care center.
The nasopharyngeal carriage of penicillin-susceptible and penicillin-resistant Streptococcus pneumoniae (PSSp and PRSp, respectively) was analyzed in 116 children attending a day care center in Rouen, France, by three observation periods in November, January, and March of the winter of 1993 to 1994. The carriage rate of S. pneumoniae was found to be 47.7, 47.3, and 49.6% at each different observation period, and PRSp accounted for 42.2, 40.3, and 40.6% of pneumococcal isolates, respectively. The 52 isolates recovered in November were distributed in 34 electrophoretic types (ETs) by multilocus enzyme electrophoresis; 15 PRSp isolates, all of serotype 23F, belonged to a clonal complex of five ETs, representing the dominant population of PRSp in November. The temporal pattern of S. pneumoniae carriage was studied in 17 children who were colonized at the three periods by multilocus enzyme analysis of their isolates. The PSSp isolated, exhibiting distinct ETs, were transient only among these day care attendees. In contrast, most of the PRSp isolated in January and March belonged to the clonal complex. Thus, this PRSp population was resident in the day care center throughout the study period.
Carrier State↗
A study of long-term survival, functional outcome and quality of life in patients with polymyositis or dermatomyositis.
UNLABELLED: There have been few studies of long-term functional outcomes and quality of life in patients with polymyositis or dermatomyositis. PATIENTS: 28 patients, 16 female and 12 male, meeting Bohan's and Peter's criteria and admitted between 1970 and 1993, were studied retrospectively; nine had polymyositis and 19 dermatomyositis (with onset during childhood in five cases); mean age was 43.5 years. METHODS: we reevaluated 18 of the 28 patients, after a mean interval of eight years; among the ten remaining patients, eight had died, one could not be traced and one declined reevaluation. Survival, muscle function, joint function, respiratory function and quality of life (AIMS 1) were determined. Factors predicting the value of these parameters were looked for. RESULTS: significant excess mortality was observed as compared with the general population in the Seine Maritime region of France. Easy fatigability and decreased exercise tolerance were found in 50% of evaluated patients; Ritchie's index was 0 in 67% of patients and between 1 and 7 in 33%; 55% of patients had dyspnea and 50% had abnormal respiratory function parameters; quality of life items were usually rated "fairly good" or "very good", except for "physical activities", which were given "poor" or "very poor" ratings by one third of patients. We found no factors associated with survival or any of the above-mentioned functional parameters, except for male gender, which predicted better muscle function. DISCUSSION: polydermatomyositis is associated with excess mortality; alterations in muscle function persist in half the cases and the ability to carry out physical activities is often reduced. The retrospective design of our study, small sample size and heterogeneity of our population precluded identification of factors predictive of survival, loss of function, or poor quality of life.
Adult↗
[Vaccination in children].
New vaccines, anti-Haemophilus b and anti-hepatitis B, are now available in clinical practice. Specific recommendations have led to modifying the calendar. Practitioner has to explain these new vaccines to the families because they are not compulsory. Combined vaccines (like five valence) is useful to improve compliance. In the near future, new vaccines like the well tolerated acellular pertussis, and new combined vaccines will be available.
Age Factors↗
[Screening of A985 to G mutation of medium-chain acyl-CoA dehydrogenase (MCAD) gene in Normandy. Evaluation of the role of MCAD deficiency in sudden infant death].
MCAD deficiency is recognized as the most common hereditary defect of hepatic fatty acid oxidation. Clinical signs are somnolence progressing to lethargy potentially leading to coma. Death is the outcome of the first attack in about 20% of cases, suggesting sudden infant death syndrome (SIDS). A point mutation (adenine to guanine at position 985) in exon 11 of the MCAD gene represents 90% of alleles causing MCAD deficiency. The high prevalence of this mutation allows the estimation of the incidence of MCAD deficiency in the general population and in SIDS. The study was performed after PCR amplification from blood spots on filter paper in 1,432 randomly selected newborns (group I), in 225 SIDS (group II) and in 47 infants of SIDS family (group III). In group I, 10 newborns were found to have the G985 mutation in the heterozygous form. In group II, among 225 SIDS cases, the G985 MCAD mutation was found once in the heterozygote state. In group III, the mutation was not found. The estimated frequency of the mutation was 1/143 in the reference group and the incidence of MCAD deficiency was calculated as 1/67,000 in Normandy.
Acyl-CoA Dehydrogenases↗
Comparative study of human expertise and an expert system: application to the diagnosis of child's meningitis.
We present a general method of statistical evaluation for expert systems, applied to a system for the diagnosis of child's meningitis. Fifty difficult clinical cases of child's meningitis were submitted to the system, to seven senior specialists and to seven young physicians. Multidimensional analysis of the diagnosis of the infection category reveals that the two groups of physicians separate naturally and that the system is located among the group of experts. The study of the agreement of the microbiological diagnosis and therapeutic advice shows that the advice of the two groups of physicians is significantly different and that the advice of the system is significantly closer to that of the experts. This result is confirmed by the study of therapeutic errors. This type of study allows one to classify the performance of the system among physicians having different levels of expertise without referring to an objective solution.
Child↗
[Extensive fibrous endocarditis as first manifestation of systemic lupus erythematosus].
BACKGROUND: Cardiac abnormalities, such as myocarditis, pericarditis or verrucous endocarditis (Libman-Sacks endocarditis) occur in about one third of patients with systemic lupus erythematosus. This study describes an unusual aspect of endocardial involvement. CASE REPORTS: Case no. 1: A 14 year-old girl was admitted 3 months after acute hemichorea because of heart failure plus biological inflammatory findings. Echocardiography showed mitral insufficiency with enlargement of the left atrium and ventricle. There was some infiltration involving the endocardium of the left ventricle, the chordae tendinae and the mitral valve. The titres of anti-DNA and anti-nuclear antibodies were elevated while the serum hemolytic complement was depressed. Skin biopsy showed IgG, IgM and C1q deposits along the dermoepidermal junction. Corticosteroids, diuretics and vasodilator drugs failed to completely cure the heart failure; the mitral insufficiency required mitral valve replacement 21 months later. Pathological examination showed extended fibrotic changes of the endocardium. Case no. 2: A 4 year-old boy was admitted for acute heart failure due to mitral insufficiency, associated with biological inflammatory findings. Echocardiography showed mitral insufficiency and enlarged left atrium and ventricle. Anti-DNA and anti-nuclear antibody titres were elevated. The patient was given antibiotics followed by corticosteroids and immunosuppressive drugs. The persistence of the mitral insufficiency required mitral valve replacement 7 months later. Pathological examination showed fibrotic changes of the endocardium. Exacerbation of the inflammatory process was seen 2 months after surgery, with development of diffuse proliferative lupus nephritis. The patient died of kidney failure and neurological complications, 44 months after cardiac surgery. CONCLUSION: In both patients, the systemic lupus erythematosus was revealed by endocardial involvement, a complication that is usually seen later. The endocardium changes responsible for mitral insufficiency and requiring valve replacement in these two cases were different from those described as verrucous endocarditis in classical forms of the disease.
Adolescent↗
[Isolated acute peripheral facial paralysis in children. Etiological and prognostic study].
BACKGROUND: As facial nerve palsy is usually of sudden onset and of obscure etiology, a survey of large series may provide new information. PATIENTS AND METHODS: The files of 40 children suffering from acute facial nerve palsy seen in 3 pediatric and 1 otorhinolaryngologic (ORL) departments between 1980 and 1990 were analysed. Patients with congenital palsy and those with paralysis that appeared after injury or in the course of acute or chronic disease (otitis media, tumor) were excluded from the study. The children were 9 months-16 years old (mean: 7 year 1 month). There were 22 left and 18 right facial nerve palsies. The palsy was moderate in 17 children, severe in 15, and total in 5. Etiologic factors (viral serologic studies, CSF examination), ORL studies and electromyogram of the facial nerve were analyzed in the majority of cases. Corticosteroids were used in 30 patients. RESULTS: A viral etiology was suspected and/or confirmed in 13 children; abnormalities were seen in 6 of the patients who underwent lumbar puncture. A familial facial nerve palsy was seen in 1 case and kidney disease in 2 cases. 23 cases appeared to be idiopathic. A moderate permanent residual weakness was seen in only 4 children. The mean time for recovery was 32 days (4-140 days). Corticosteroids did not influence the incidence of complete recovery, but decreased the time for recovery (26 versus 37 days) only in the patients who were treated before the 3rd day of the disease. Patients with idiopathic palsy recovered 23 days before those with viral etiology. CONCLUSIONS: Idiopathic and post-viral facial nerve palsies seem to have an excellent prognosis. Corticosteroids seem to have no effect although there is some evidence of benefit when treatment is begun early.
Acute Disease↗
[Value of dexamethasone in purulent meningitis in children. Apropos of a comparative study of 85 children].
BACKGROUND: The beneficial effect of dexamethasone plus antibiotic therapy in bacterial meningitis is still controversial. PATIENTS AND METHODS: Eighty-five children, aged 1 month to 14 years, were admitted between 1987 and 1990 for bacterial meningitis. They received the same antibiotic therapy for 10 days (7 days in meningococcal meningitis). The 44 children admitted since March 1989 were also given dexamethasone (0.15 mg/kg/6 hours for 4 days); the first injection was given before antibiotic therapy. Clinical (fever, neurological findings, audition) and laboratory data [CSF proteins, glucose, lactate, cell and bacterial counts; blood C-reactive protein (CRP), hemoglobin, leukocytes and platelets] were analyzed statistically. RESULTS: The group treated with antibiotics plus dexamethasone showed decreases significantly greater in CSF protein and lactate levels after 48 hours than the children given antibiotics alone and an early (6 hours after the start of treatment) increase in CSF glucose. The blood CRP level of the dexamethasone plus antibiotics group decreased significantly within 48 hours. The numbers of neurological sequelae and deaths in this group were clearly lower than for the antibiotic group, but the risk of deafness did not appear to be altered. CONCLUSIONS: These results confirm the beneficial effect of dexamethasone reported earlier. The relatively frequent transient recurrences of fever and increased CRP when dexamethasone was interrupted suggest that the dose and/or duration of dexamethasone treatment should be modified.
Adolescent↗
[Another case of totally regressive intestinal pseudo-obstruction].
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Chronic Disease↗
[Consensus conferences on the treatment of bacterial meningitis in infants and in children. Nancy, 23 April 1992].
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Anti-Bacterial Agents↗
Long-term prevention of allergic diseases by using protein hydrolysate formula in at-risk infants.
This prospective, long-term study assessed the effects of a protein hydrolysate formula on allergy prevention in infants with a family history of allergy. Infants were randomly assigned to receive either the hydrolysate formula (n = 92) or an adapted cow milk formula (n = 85) alone or with breast-feeding for 4 months. The groups did not differ in family allergy history scores or cord blood IgE levels. After 4 months, total IgE levels and allergic reactions did not differ significantly between groups, although the hydrolysate group had a lower prevalence of eczema. At 12 months of age, neither IgE levels nor allergic reactions were significantly different. At 2 years of age, however, 18 allergic reactions had occurred in the hydrolysate group and 31 had occurred in the control group; the differences were significant for eczema (p < 0.001) but not for asthma. At 4 years of age, allergic signs were found in 11 children in the hydrolysate group and in 17 children in the control group; the difference was significant only for eczema (p < 0.01). These results suggest that early feeding of a protein hydrolysate formula to infants at risk for allergies had a long-term preventive effect on the prevalence of eczema but not of asthma.
Body Height↗