Search results for "Normal"
showing 10 items of 2571 documents
Ocular counterrolling. Some practical considerations of a new evaluation method for diagnostic purposes.
1986
Ocular counterrolling (OCR) data taken from the literature (12 publications) were used to test the best fit (least-square fit) of these measurements with respect to three mathematical models: a sine relation between OCR and the lateral tilt stimulus, a complex cosine-square relation, and a logarithmic relation between OCR gain and tilt. The latter proved to be the best fitting function. On the basis of this model, we attempted to define a physiological transfer function between OCR gain and tilt, which could serve as a reference of normal population, assuming healthy subjects for the investigations applied. Comparison of this physiological range with pathological data demonstrated marked di…
Intraarterielle präoperative Chemotherapie fortgeschrittener Zervixkarzinome
1991
Three patients suffering from very advanced primary cancers of the cervix uteri (FIGO II B or III B) were treated. By preoperative selective perfusion of both uterine arteries, using cis-platinum alone, a distinct reduction of the tumour volume was achieved. This was demonstrated clinically and also by CAT scan and NMR technique. The elevated serum CEA and SCC levels decreased to normal values. The histomorphology of the Wertheim-Meigs specimens revealed no tumour invasion of the initially infiltrated parametria. This treatment modality has been developed to minimise the toxic side effects of the inductive (neo-adjuvant) chemotherapy for cervical cancers.
Diagnostic of craniofacial asymmetry : literature review
2009
Facial asymmetry is a common feature in many syndromes, and requires surgery as the only valid treatment option. Routine diagnostic methods (frontal RX, panoramic RX and submentovertex RX) have serious limitations mainly due to the transfer from a three dimensional image to a two dimensional plane. The feasibility of such methods is poorly supported due to inherent projection errors (image magnification, cranial rotation) and identification errors (image quality, precision and reproducibility). The use of computer tomographies represents a substantial improvement in the sense of skeletal and soft tissue structures? reproduction precision. The interpretation of this new data source makes evi…
Nonsyndromic cleft lip and/or palate: A multicenter study of the dental anomalies involved
2018
Background Nonsyndromic cleft lip and/or palate (NSCL/P) is the most common craniofacial malformation. Due to the anatomical defect present in the alveolar process, these patients tend to exhibit more dental anomalies. The aim of this study was to identify the prevalence of dental anomalies in patients with NSCL/P by obtaining orthodontic documentation from Brazilian Centers for cleft lip and palate treatment. Material and Methods A retrospective analysis (2000-2014) was conducted on orthodontic archives, radiographs and medical records of NSCL/P of 524 patients under orthodontic treatment. Panoramic radiographs and intra-oral photographs were examined to identify these anomalies. Categoric…
Muscle adenylate kinase in Duchenne muscular dystrophy
1986
Abstract On the basis of electrophoretic and enzyme inhibition studies it was postulated that an aberrant adenylate kinase occurs in muscle and serum of patients with Duchenne muscular dystrophy (Schirmer, R.H. and Thuma, E. (1972) Biochim. Biophys. Acta 268, 92–97; Hamada, M. et al. (1981) Biochim. Biophys. Acta 660, 227–237; Hamada et al. (1985) J. Biol. Chem. 260, 11595–11602. On the basis of the following results we conclude that Duchenne muscular dystrophy patients do not possess an unusual adenylate kinase isoenzyme. (1) In muscle biopsies from five Duchenne patients, the electrophoretic mobility of adenylate kinase and the inhibition of the enzyme by P 1 , P 5 -di(adenosine-5′)pentap…
Pili Torti: A Feature of Numerous Congenital and Acquired Conditions
2021
Pili torti is a rare condition characterized by the presence of the hair shaft, which is flattened at irregular intervals and twisted 180° along its long axis. It is a form of hair shaft disorder with increased fragility. The condition is classified into inherited and acquired. Inherited forms may be either isolated or associated with numerous genetic diseases or syndromes (e.g., Menkes disease, Björnstad syndrome, Netherton syndrome, and Bazex-Dupré-Christol syndrome). Moreover, pili torti may be a feature of various ectodermal dysplasias (such as Rapp-Hodgkin syndrome and Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome). Acquired pili torti was described in numerous forms of …
PATHOPHYSIOLOGY AND CLINICAL ASPECTS OF URINARY LITHIASIS
2007
Urine is a complex balanced solution containing dissociated and non-dissociated solutes. Any variation in urine saturation grade (number of crystals dissolved in a volume of urine), urinary pH and the concentration of crystallization inhibitors can break the normal existing balance and lead to urolithiasis. In the present article we analyze the principal mechanisms (absorptive, renal, resorptive) of hypercalciuria. It will be also shown how heredity directly influences the clinical aspects of cystine, xanthine and oxalate lithiasis and how diet, in association with metabolic disorders, interferes in uric acid and oxalate stone formation. Finally, we report on the roles of urinary tract malf…
Novel missense mutation of the TP63 gene in a newborn with Hay-Wells/Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome: clinical rep…
2021
Abstract Introduction Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome, also known as Hay-Wells syndrome, is a rare genetic syndrome with ectodermal dysplasia. About 100 patients have been reported to date. It is associated to a heterozygous mutation of the tumor protein p63 (TP63) gene, located on chromosome 3q28. Typical clinical manifestations include: filiform ankyloblepharon adnatum (congenital adherence of the eyelids), ectodermal abnormalities (sparse and frizzy hair, skin defects, nail alterations, dental changes and hypohidrosis), and cleft lip/palate. Diagnostic suspicion is based on clinical signs and confirmed by genetic testing. Patient’s presentation We hereb…
Radioimmunological determination of somatomedin B in healthy children and patients with HGH deficiency
1979
In 192 boys and girls, aging from 1 month to 16 years, serum somatomedin B levels were performed by radioimmunoassay of Kabi Inc., slightly modified. In girls the mean value increased from the 1 st. month at the end of the second year of live from 10.5±6.2 to 19.2±9.2 mg/1, in boys at the same time from 10±3.9 to 20.3±6.2 mg/1. The values decreased in girls in the following years up to the age of 14-16 years to 13.7±7.5 mg/1; in the boys to 11.5±4.2mg/1. The beginning of the decrease was in girls two years earlier than in boys. To these values of normal children were compared the values of 8 patients with HGH deficiency. The mean of these cildren was 4.2 mg/1, significantly below the values…
Performing, Analyzing, and Interpreting HRAM and HDAM Recordings
2020
Anorectal manometry is one of the most widely performed tests for the assessment of anal sphincter function and anorectal coordination. Nowadays high resolution (HRAM) and high definition anorectal manometry (HDAM) are available, instead of the water-perfused system. The ability to visualize the anorectum as a dynamic structure during test maneuvers should intuitively allow for a better appreciation of the normal physiology and hopefully enhance our understanding of the pathophysiology of defecatory dysfunctions. Even if the anorectal manometry protocols can vary by centers, the procedure must include an assessment of rectoanal pressure and anal canal length at rest, cough reflex test, rect…