Electrocardiographic exercises and diagnosis

An analysis was made of the incidence of various intrathoracic abnormalities noted on plain chest radiographs and tomograms in a consecutive series of 300 patients with untreated Hodgkin's disease and nonHodgkin's lymphoma. Those with Hodgkin's disease have a higher incidence of intrathoracic disease at presentation than those with non-Hodgkin's lymphoma (67% vs. 43%). Bulky superior mediastinal lymphadenopathy is the hallmark of Hodgkin's disease. Lung involvement was more common in Hodgkin's disease (11.6% vs. 3.7%) and was always accompanied by mediastinal and/or hilar lymphadenopathy.     

Cholescintigraphy in the diagnosis of Rotor syndrome

A 2-year-old boy with Rotor syndrome was studied with Tc-99m N-(di-isopropylphenyl carbamoylmethyl) iminodiacetic acid (DIPA). In this patient, the liver was not visualized, and there was persistent visualization of the cardiac blood pool and along with prominent kidney excretion. It is concluded that Tc-99m DIPA cholescintigraphy may be helpful in the diagnosis of Rotor syndrome.     

Ultrasound prenatal diagnosis of the Nail-Patella syndrome

The Nail-Patella syndrome (NPS) is an autosomal dominant connective-tissue disorder characterized by the absence or hypoplasia of the nails and patella, posterior illiac horns, elbow deformities, congenital nephropathy cervical ribs and eye problems. The presence of the posterior iliac horns is pathognomonic and have been observed in more than 80 per cent of cases. In this report, we present the first case of prenatal diagnosis of NPS by ultrasound. The possible kidney involvement, combined with other, milder, complications make the prenatal diagnosis of this syndrome worthwhile.     

Rheoencephalography in the diagnosis of cervico-cephalic syndrome

We wanted to define the concept of extracranial exactly and to find out which level of cervical spine has the most essential influence on REG curve forming. 919 patients coming for treatment in Spine disease diagnostic centre of Orthopaedic clinic at Zagreb Faculty of Medicine have been elaborated. According to the results, it can be concluded that cervical segment C5-C6 is the most essential according to the influence on positiveness of REG and that reoencephalography shows us the influence of lower part of cervical spine on artery vertebralis while we don't get information about the influence of craniovertebral area on REG.     

DNA-based diagnosis of Angelman syndrome and Prader-Willi syndrome

An endoscopically assisted technique for internally dividing the palmar or plantar annular ligament was developed in six cadaver limb specimens and two anesthetized horses. Under arthroscopic view, a slotted cannula was inserted into the digital sheath through a stab wound proximal to the annular ligament and advanced through the fetlock canal superficial to the flexor tendons with the slot oriented toward the fibers of the annular ligament. Division of the annular ligament by 90-degree tipped open and guarded blades was observed and verified by direct arthroscopic view. At necropsy, complete division of the annular ligament without iatrogenic damage to the neurovascular structures was confirmed by dissection. Annular ligament division was performed in seven horses with complex tenosynovitis conditions. Tenoscopic examination and removal of tendon and digital sheath adhesions, masses, and bands was followed by endoscopically assisted annular ligament transection. At follow-up, five horses were sound athletes without recurrent digital sheath problems, one horse had residual lameness, and one horse was still convalescing.     

Therapeutic importance of the diagnosis of Kallmann syndrome

Hyposmia with hypogonadotropic hypogonadism was diagnosed as Kallmann syndrome in a 24 years old dizygotic female twin. This syndrome indicates the importance of smell in the sexual development through the progenitor cells in the olfactory placode because luteinizing-hormone-releasing hormone (LHRH) secreting cells of hypothalamus arise from these cells. In addition, substitution therapy may be successful in the treatment of the lack of secondary sex traits and primary amenorrhoea as the presented case demonstrated.     

Prenatal diagnosis of Apert syndrome

Apert syndrome (AS) is clinically characterized by typical facial features and symmetrical syndactyly of the digits. AS is inherited as an autosomal dominant trait. Recently, a fibroblast growth factor receptors 2 (FGFR2) mutation, either C934G or C937G, was identified in exon IIIa. Our report documents an affected mother and son in whom one of the two mutations in AS had occurred sporadically in the mother. The diagnosed of AS was based on associated abnormal physical features and on molecular genetic analysis. A C-to-G transversion at position 937 of the cDNA resulting in a proline-to-arginine substitution at codon 259 was found in the mother. In her second pregnancy, prenatal diagnosis by both restriction analysis and direct sequencing was undertaken and this showed that the female fetus had not inherited the mutation.     

Genetic diagnosis of Williams syndrome

Williams syndrome is a complex developmental disorder. The major cardiovascular component of Williams syndrome is supravalvular aortic stenosis, a progressive disease that may need surgical repair. Williams syndrome is associated with heterozygous microdeletion in the chromosomal region 7q11.23 encompassing the elastin gene. We have identified a new, highly informative tetranucleotide repeat polymorphism within the human elastin gene. This marker together with other, previously described elastin gene markers was used to show deletion of the elastin gene in nine sporadic Williams syndrome patients from Hungary. Application of polymorphisms within and flanking the elastin gene on chromosome 7 provides a fast, polymerase chain reaction based method for mutational analysis of Williams syndrome patients.     

An exploration of the nursing diagnosis terminal syndrome

As a result of the limitations of a single nursing diagnosis, NANDA has encouraged the development of "syndromes." A study was undertaken using an investigator-developed tool to identify the cluster of defining characteristics, nursing diagnoses and nursing interventions for terminally ill patients, regardless of disease origin. The sample consisted of completed medical records of 15 randomly selected chronic obstructive pulmonary disease patients and 15 randomly selected cancer patients. For all three areas there were commonalities, specifically 10 defining characteristics, seven nursing diagnosis and a 27%-48% agreement on the nursing interventions selected. A clustering of data has been documented to support the establishment of the nursing diagnosis, terminal syndrome.     

Beckwith-Wiedemann syndrome: antenatal diagnosis

The Beckwith-Wiedemann syndrome is an unusual complex with variable features. The major findings include abdominal wall defects, macroglossia and visceromegaly. These features should be amenable to antenatal ultrasound detection. Only a few such cases have been reported to date. Antenatal diagnosis allows optimum perinatal care. Hypoglycaemia in the neonatal period is common in these babies and requires early detection and appropriate management to prevent long-term intellectual complications. We present a case where the diagnosis was suggested prior to delivery.