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Biomedical subjects

J Hager

Publications and source records attributed to J Hager.

At least 55 records · Page 3Linked to original sources
PubMed1995

Linkage analyses of the MODY3 locus on chromosome 12q with late-onset NIDDM.

Non-insulin-dependent diabetes mellitus (NIDDM) is a clinically and genetically heterogeneous disorder. Maturity-onset diabetes of the young (MODY), an autosomal dominant form of NIDDM, has been used as a model for genetic studies of NIDDM. We recently reported linkage between markers on chromosome 12q and diabetes in 25% of our French MODY families. To evaluate if this gene is also implicated in late-onset NIDDM, we performed linkage studies between two markers of the MODY region and diabetes in 172 families with late-onset NIDDM. Both parametric and nonparametric methods were used in a total of 600 affected sib-pairs. Linkage was rejected in this population by all methods, implying that the MODY gene on chromosome 12q is not a major gene for late-onset NIDDM in this population. However, we cannot exclude a modifying role in a polygenic disorder or an important role in some families.

Adult↗
PubMed1994

Six mutations in the glucokinase gene identified in MODY by using a nonradioactive sensitive screening technique.

We have reported that 56% of French families with maturity-onset diabetes of the young (MODY) carry a mutation in the glucokinase gene (GCK). Therefore, we have established a quick and sensitive nonradioactive technique (with the PhastSystem based on single-strand conformation polymorphism [SSCP] analysis) to routinely screen the 12 exons of GCK for mutations. We have studied GCK in 12 young hyperglycemic patients with a strong family history of type II diabetes. SSCP variants were observed in 6 of those 12 patients (50%), which cosegregated with diabetes in five families where DNA from additional members was available. Direct sequencing identified a 10-bp (base pair) deletion in exon 3; a 33-bp deletion at the exon 5/intron 5 junction, including the two consensus bases (GT) of the donor splice site; a nonsense mutation in exon 5 (Arg186-->Stop) in a Black-African family, which has been identified previously in a Caucasian family; and three missense mutations: Thr209-->Met209 in exon 6, Gly261-->Glu261 in exon 7, and Arg36-->Trp36 in exon 2. The missense mutation in exon 2 was found only in the second and third generation of the tested family but not in the first. To our knowledge, this is the first time that a de novo mutation of GCK is reported within a family. All six families carrying a mutation in GCK were typical MODY and most of their affected members had a mild form of diabetes. This nonradioactive SSCP technique may be useful to routinely diagnose glucokinase deficiency, which is an important cause of hyperglycemia among young type II diabetic patients.

Adult↗
PubMed1994

Immunization practices of pediatricians and family physicians in the United States.

OBJECTIVE: To assess current practices and attitudes among pediatricians and family physicians across the United States regarding immunizations. DESIGN: Survey of a random sample of pediatricians and family physicians. SUBJECTS: Fellows of the American Academy of Pediatrics (N = 746) and American Academy of Family Medicine (N = 429). SURVEY TOPICS: General immunization practices (eg, types of visits during which vaccinations are provided, mechanisms to identify undervaccinated children); and opinions about perceived barriers to immunizations, acceptance of alternative sites for immunizations, and possible immunization requirements for Medicaid and The Special Supplemental Food Program for Women, Infants, and Children (WIC). RESULTS: Pediatricians and family physicians (combined) reported the following: immunizing children during acute illness visits (28%), follow-up visits (90%), and chronic illness visits (77%); using computer or reminder files to identify undervaccinated children (13%); and simultaneously administering four vaccines (diphtheria-tetanus-pertussis, oral poliovaccine, measles, mumps, and rubella and Haemophilus influenzae type b) to an eligible 18-month-old child (66%). Physicians perceived the following as barriers to immunizations: missed preventive visits (40%), vaccine costs (24%), lack of insurance coverage (24%), inability to track undervaccinated patients (22%), incomplete immunization records (12%), and missed vaccination opportunities (12%). Physicians agreed with offering vaccinations during hospitalizations (51%) or emergency department visits (30%), and with immunization requirements for continued eligibility for Medicaid (66%) or WIC (64%). Pediatricians were more likely to vaccinate during chronic illness and follow-up visits, and were more likely to use systems to track undervaccinated children (P < .05); however, most immunization practices and attitudes of pediatricians and family physicians were similar. Physicians who graduated from medical school more recently and those in high-risk urban practices were more likely to vaccinate during acute illness visits, provide simultaneous vaccinations, and favor vaccinations in hospital settings. CONCLUSIONS: Vaccination rates might be improved by closer adherence to current immunization guidelines regarding vaccinations during all encounters and simultaneous vaccinations, by developing systems to identify undervaccinated children, and by reducing patient costs for vaccinations. Current immunization practices fall short of the immunization guidelines; changes in individual practice styles will be required to conform with these standards.

Acute Disease↗
PubMed1994

Nonradioactive screening of glucokinase mutations in maturity onset diabetes of the young.

DNA mutations were previously identified in the glucokinase gene in 56% of French families affected with maturity onset diabetes of the young (MODY), an early onset autosomal dominant form of non-insulin-dependent diabetes mellitus (NIDDM). Mutations were found on almost all exons using the common radioactive single-strand conformation polymorphism (SSCP) technique. In this paper, we describe a non-isotopic SSCP method using the Pharmacia Biotech PhastSystem for the routine screening of new mutations in diabetic patients or in offsprings of diabetic patients. The use of the PhastSystem allowed us to easily and reproducibly optimize the electrophoretic conditions for each exon. We demonstrate the efficiency of this technique by identifying 8 mutations, 7 of which have never previously been detected, in patients referred to us for diagnostic purposes. It appears to be a sensible, easy and reliable method to improve the routine diagnosis of MODY in diabetic subjects or relatives and should be applicable to other genetic diseases.

DNA Mutational Analysis↗
PubMed1992

In vitro and in vivo effect of antibiotics on catheters colonized by staphylococci.

An in vitro model was used to study whether and how catheter infections can be cured. Silastic catheters were "infected" with Staphylococcus aureus ATCC 25923 and Staphylococcus epidermidis KH11 and V2; these "infections" were then treated with 24, 48 and 96 h continuous infusions of various antimicrobial agents administered both as monotherapy and in combination. The Staphylococcus aureus strain was considerably more difficult to eliminate from catheters than were the Staphylococcus epidermidis strains. This experience gained in the laboratory was then applied in vivo to 16 episodes of catheter sepsis in seven children. Treatment for at least six days with imipenem/cilastatin combined with fosfomycin or an aminoglycoside successfully eliminated the pathogens isolated from 11 of the 16 episodes of infection. The broad-spectrum combination was chosen because it could not be assumed that individual pathogens would be sensitive to a single substance. Nine of the infected catheters could be retained in the patients. This experience suggests that it may be possible to successfully eliminate the colonization of central venous catheters by coagulase-negative staphylococci using the antimicrobial agents employed here.

Anti-Bacterial Agents↗
PubMed1992

Measurement of particle and mass distribution of pentamidine aerosol by ultrasonic and air jet nebulizers.

The use of appropriate nebulizers is a major precondition for a successful treatment and prevention of Pneumocystis carinii pneumonia with pentamidine aerosol. The apparatus should supply a sufficient amount of pentamidine with adequate particle size. Using Fisons ultrasonic nebulizer FISO Neb, model FZV 40 BAMKI, De Vilbiss ultrasonic nebulizer, Porta-Sonic, model 8500 GB, and the Marquest Medical Products jet nebulizer Respirgard II, two pentamidine concentrations (300 mg/6 ml and 60 mg/6 ml) were compared by measuring nebulized pentamidine mass distribution and particle size distribution under in vitro conditions by means of a laser light-scattering particle sizer of the type Malvern Master sizer. It was found that there were significant differences among nebulizers. Mass distribution experiments with air flow 6 l/min showed that using FISO Neb the quantity of nebulized pentamidine was 201.4 mg and 36.7 mg, whereas using Porta-Sonic the values found decreased to 85.2 mg and 23.6 mg. Using Respirgard II the values were 80.0 mg and 10.64 mg. The measured total duration times of nebulization were 6 - 8.5 min, 12 min and 25 min for the nebulizers FISO Neb, Porta-Sonic and Respirgard II. A decomposition of pentamidine during nebulization in the case of ultrasonic nebulizers doesn't take place. The measured mass median diameters (MMD) were 5.6 - 6.9 mum, 1.96 - 3.04 mum and 1.9 - 2.5 mum for the nebulizers FISO Neb, Porta-Sonic and Respirgard II. Using 300 mg pentamidine the nebulized amounts of pentamidine containing particles sizes less than or equal to 2 mum predominately available for alveolar deposition were with values of about 43 mg markedly higher for Respirgard II and Porta-Sonic than the measured 10.5 mg for FISO Neb.

Aerosols↗
PubMed1992

Proteus syndrome: musculoskeletal manifestations and management: a report of two cases.

The literature on clinical and roentgenographic findings of Proteus syndrome is reviewed. Two patients with Proteus syndrome who exhibited skeletal deformities and characteristic features such as limb length discrepancy, skin lesions, and soft tissue tumors are reported. Persistent difficulties in treating malformed spines and unequal legs, as well as unpredictable tissue reaction to trauma, are discussed.

Child↗
PubMed1991

[Chilaiditi's colon interposition in a patient with Rett syndrome].

We report on a patient with Rett syndrome associated with Chilaiditis interposition of the colon. Episodes of severe hyperventilation with aerophagia, immobility and obstipation facilitated the occurrence of an interposition of the colon. Conservative therapeutic measures were not successful, surgical intervention was necessary to cure the symptoms.

Child↗
PubMed1990

[The diagnosis and therapy of esophageal perforation or rupture in infancy and childhood].

Oesophageal perforation or rupture is rare in childhood; recently there has been an increase, mostly due to the more frequent use of endoscopy in neonates. The prognosis depends largely on early diagnosis and the type of treatment. The author has seen eight children, aged between one day and nine years, with oesophageal lesions. Of these, six had a perforation and two a rupture of the oesophagus. The problems of diagnosis and treatment and their complications are discussed with reference to these patients. Stress is laid on the importance of early diagnosis. In children, contrary to the case in adults, conservative treatment is often possible.

Child↗
PubMed1990

[Initial experience with a new blood pump].

A new type of blood pump was tested in calves for 6 hours. The pump consists of a rigid housing with a trochoidal internal surface, an inlet and outlet, and two lateral walls. A two-corner piston rotating on an eccentric shaft, describes a trochoidal path, thus creating a gap seal, the gap measuring a constant 10-35 microns. The pump is driven by a watercooled DC motor. For right ventricular assist, a cannula is inserted into the right ventricle through the right atrium, and into the left ventricle for left ventricular assists. From a total of 10 experiments, two left ventricular assists, two right ventricular assists, and three biventricular assists were evaluated. The pump produced a pulsatile flow of 31 at 70 rpm. Energy requirements were 2.19 watts for left, 2.06 for right, and 7.26 for biventricular assists. Plasma hemoglobin remained as low as 10 mg/dl during monoventricular, and increased during biventricular assists to 20 mg/dl after 3 hours, and returned to 16 mg/dl after 6 hours. From these preliminary results it is concluded that this new rotary blood pump may be suitable as a circulatory assist device.

Animals↗
PubMed1990

[Twin pregnancy with discordant abnormalities].

3 cases of severe discordant malformations diagnosed by ultrasound (anencephaly, myelomeningocele, prune belly-syndrome) in multiple pregnancies have been described. Operations have been given up consciously.

Adult↗
PubMed1989

[Treatment of traumatic splenic rupture in children].

The introduction of new techniques for reducing blood loss in operations on parenchymatous organs and of ultrasonography for screening the traumatized spleen and monitoring therapeutic management have made it possible to preserve this organ following injuries in childhood with increasing success over the past few years. An analysis of a sample of 48 children with splenic rupture (33 boys, 15 girls, aged between eleven months and four years) treated in our department between 1974 and 1989 illustrates this change of approach. 26 patients were splenectomized, in 14 cases the spleen was partly preserved, and 8 were just monitored.

Child, Preschool↗
PubMed1989

Total colonic aganglionosis.

A rare complication after ileorectostomy for total aganglionosis of the colon is demonstrated. Eight years after the operation fistulae between rectum and sacrum appeared. Other cases from the literature are mentioned.

Child↗