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Biomedical subjects

J Weisenbach

Publications and source records attributed to J Weisenbach.

At least 19 recordsLinked to original sources
PubMed2004

Increased prevalence of factor V Leiden mutation in premature but not in full-term infants with grade I intracranial haemorrhage.

OBJECTIVES: In the current prospective study our aim was to analyse the distribution of the factor V Leiden (G1691A) mutation in preterm and full-term neonates with grade I intraventricular haemorrhage and in control neonates. STUDY METHOD: A group of 125 individually selected neonates with grade I intraventricular haemorrhage and 128 controls were investigated. RESULTS: The allele frequency was 7.2% in the total population of affected infants while it was 3.9% in the controls (p < 0.05); the latter corresponds to an average European allele frequency in healthy populations. When the infants were grouped as premature (<2,500 g and < or =36 weeks of gestational age) and appropriate for gestational age full-term infants the statistical analysis revealed an increased prevalence of the mutation in the premature group (10% allele frequency vs. 4.8% in the controls, p < 0.05), and a normal prevalence in the mature group (4.6 vs. 3.1%, respectively); therefore, the overall increase was due to the increase of incidence rate in preterm neonates. CONCLUSIONS: These data confirm our previous results and suggest that as the preterm and term infants differ from each other in haemorrhage susceptibility in many clinical particulars, carrying of the mutation has probably also a different impact in premature and in full-term infants with respect to the intraventricular haemorrhage.

Alleles↗
PubMed2001

[Ultrasound-guided hydrostatic reduction of intussusception].

In our country, the hydrostatic reduction is performed in three different ways. 1. A method with negative contrast material (gas enema) and fluoroscopy is performed only in one hospital. 2. A second method is performed with the use of Gastrographin and guided with ultrasound examination, and finally controlled with x-ray, this method is used in the most places. 3. Sonographically guided enema using physiological saline solution which has been performed by the authors for five years is only used in the Transdanubian region and is getting more and more popular in the resent years. The case history of 34 patients with intussusception was analysed retrospectively and the results of hydrostatic reduction with ultrasound guidance were reviewed. In 22 of 34 patients vomiting was noticed, blood in the stool was found in approximately one-third of all cases, the abdominal pain as the most important sign was presented by all patients. In 24 of 34 patients with intussusception, a single hydrostatic reduction was completely successful, but 10 patients were operated on. With the use of author's method, the following advantages were noticed: control X-ray examination was not needed, and in cases of multiple intussusception of the small intestines all of the lesions were detected.

Adolescent↗
PubMed2001

[Combination, transition and degrees of severity of various syndromes].

Nowadays it is difficult to recognise and separate the various syndromes. The geneticists and the morphologists often change the classification of syndromes. The problem may be caused by a new case of a known syndrome, when new symptoms are described among the known ones. Then it is not sure, if a new syndrome discovered or it is a more complicated variation of an already known syndrome. To emphasise and exemplify the difficulties of syndrome identification 5 patients are presented and analysed: on with anadysplasia, two with cleidocranial dysplasia and a sibling pair with Larsen syndrome. It is concluded that no new syndrome could be described, and in a similar context, the definition of several new syndromes is not justified. The classification of syndromes based on bone disorders must be modified in order to fit the Genetic Classification easier and more clearly.

Bone Diseases↗
PubMed2001

[Normal percentiles of kidney size in children as measured by ultrasonography].

The most anomaly of kidney development and urinary tract diseases have an effect on the size of the kidneys. Kidney size (renal length and parenchymal thickness) is readily measurable by ultrasonography, but the evaluation remains subjective without the use of appropriate standards. The aim of authors was, to produce a centile chart for normal kidney size based on US measurement in healthy Hungarian children. Renal length and renal parenchymal thickness (upper pole, middle part and lower pole) as well body weight and height were measured in 330 children. Normograms (centile charts) with 10th, 50th and 90th centiles were produced for body weight/height and renal length/parenchymal thickness. Renal length correlated strongly with both body weight (r = 0.93, p < 0.001) and height (r = 0.93, p < 0.001). The centile chart for renal size enables the objective evaluation of abnormal kidney size; it can help in the early recognition and follow up of urinary diseases.

Adolescent↗
PubMed1996

Vertebral anomalies in Larsen's syndrome.

The case of two sisters with Larsen's syndrome is presented. In addition to typical features of the syndrome, "multiple coronal cleft vertebrae" of the lumbar vertebral bodies were seen in both sibs. The extremities were conspicuously short.

Female↗
PubMed1995

Syndrome of arachnodactyly, disturbance of cranial ossification, protruding eyes, feeding difficulties, and mental retardation.

We have evaluated an infant with a striking combination of craniofacial anomalies, arachnodactyly, and severe developmental failure. She died at the age of 5 months during a recurrent apneic episode. She also had protruding eyes, downward slant of palpebral fissures, short upturned nose, midface hypoplasia, micrognathia, extreme under-development of the epiglottis, and severe feeding difficulties. The patient closely resembled four other previously reported patients. It is suggested that these five patients represent the same malformation syndrome, a well-recognizable separate entity. Our patient also had a pericentric inversion of chromosome 10; a possible association of this with the phenotype cannot be excluded.

Abnormalities, Multiple↗
PubMed1994

[Acute hydrops of the gallbladder in childhood].

The authors discuss four cases of acute hydrops of the gallbladder being examined in the Department of Pediatrics, Medical University School of Pécs. Diagnosis was based on ultrasonography. In all cases right upper quadrant abdominal pain and fatigue were observed. The causes of hydrops were Kawasaki's disease, sepsis, and multiple trauma. In one case the cause was unknown. In one of the cases cholecystectomy was done, in three cases the hydrops resolved spontaneously. The authors discuss the aetiology, the symptomatology and the therapeutical possibilities of hydrops. On the basis of their results the authors suggest the importance of the serial ultrasound examinations.

Acute Disease↗
PubMed1989

[Developmental bone abnormalities, their variants and the delay of osteogenesis in children with leukemia].

When analyzing the Roentgen documentation of 102 leukaemic children, the prevalence of bone anomalies of the extremities, pelvis and vertebral column was studied. The frequency of the abnormal or unusual findings was compared with that of 660 control subjects. The frequency of osseous anomalies proved to be 2 to 3 times higher in leukaemic children tha in the controls. Considering the number of ossification centers and the presence nutritional canal of vertebrae, in leukaemic children the ossification seemed to be retarded.

Adolescent↗
PubMed1989

[Revised evaluation of cardiomegaly in hypoglycemia in newborn infants].

Numerous data of the literature suggest that the cardiomegaly of hypoglycaemic newborns is due to low blood glucose levels. The size of the heart is usually determined by measuring the cardio-thoracic ratio (CTR). On the basis of the present retrospective study analyzing the clinical course and radiological findings of 66 newborns the authors suggest that: 1. CTR cannot reliably be used for determining the size of the heart in hypoglycaemic small for gestational age (SGA) newborns. 2. Routine look at the X-ray picture is also insufficient for the determination of the size of the heart in hypoglycaemic SGA newborns. 3. The method suggested by the authors is to measure the transverse diameter of the heart and to compare it to the normal, birthweight-related standard. In 3/4 of the hypoglycaemic SGA newborns studied thoracic transverse diameter (TTD) values were found to be smaller than the 50th percentile of the standard. Transverse diameter values of the heart, however, did not differ significantly from the normal mean values. In cases of true cardiomegaly, i.e. cardiac diameter above the 90th percentile, data indicative of asphyxia were more frequently seen.

Asphyxia Neonatorum↗
PubMed1984

Abdominal calcifications in infants and children.

Abdominal and pelvic calcifications are usually incidental findings and require further measures to determine their origin. Most laboratory investigations are of little help. Plain anteroposterior and lateral x-rays are essential. The time of appearance and localisation of a calcification is of diagnostic importance. Amorphous, granular and irregular calcification can be an early sign of malignancy. Mobility of a calcification also helps to clarify its origin. Over the past 15 years abdominal and pelvic calcifications, excluding urological radiodensities, have been found in 63 patients up to fourteen years of age at our institute. A migrating deposit in the omentum, a spontaneously amputated calcified ovary mimicking a vesical calculus and a congenital retroperitoneal xanthofibroma caused the greatest difficulty in establishing a preoperative diagnosis.

Abdomen↗
PubMed1982

Cardiomegaly in hypoglycaemic small-for-gestational-age infants.

The chest X-rays of 15 hypoglycaemic small-for-gestational-age infants showed cardiomegaly in 10 infants, 4 had heart failure. None of the infants had respiratory distress syndrome, congenital heart disease, septicaemia, anaemia or polycythaemia; infants of diabetic mothers were excluded. Cardiomegaly disappeared with the normalization of blood glucose in most of the cases. The cause of the cardiomegaly and heart failure might be related to insufficient cardiac energy substrates in small-for-gestational-age infants. This condition should also be considered in the differential diagnosis of cardiomegaly and heart failure.

Cardiomegaly↗