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At least 217 records · Page 12Linked to original sources
PubMed2003

[Embryology of the sphenoid bone].

The sphenoid bone represents a complex structure in terms of anatomy and embryology. Indeed, it is formed by the fusion of different primordia whose embryonic origins are different. In mammals, it is possible to distinguish two components of this bone: the orbitosphenoid and the basi-post-sphenoid derive from the cephalic mesoderm whereas the alisphenoid and the basi-pre-sphenoid are from neural crest cell origin. The genetic control of the development of these two components is different further increasing the heterogeneity of these components. The sphenoid bone has been linked with several developmental diseases: chordomas, tumors arising from notochordal remnants; persistence of the craniopharyngeal canal may result in the occurrence of trans-sphenoidal encephaloceles.

Chordoma↗
PubMed2006

[Rett syndrome: a diagnostic, clinical and molecular update].

INTRODUCTION: Rett syndrome (RS) was first reported in 1966 and in 1999 it was discovered that it was associated to mutations in the MECP2 gene. In the last 5 years over 500 articles have been written on the subject, which is clear evidence of how complex and important this syndrome is. AIM: To present an updated summary of the topic in Spanish. DEVELOPMENT: RS is the second most common cause of mental retardation in females after Down syndrome, with an estimated prevalence of 1/15,000 girls in Europe. It is a syndrome involving progressive psychomotor deterioration, with autism, stereotypic movements of the hands, loss of acquired language and decreased cranial growth. It is a dominant X-linked pathology that is usually fatal in males and in which over 99% of cases involve de novo mutations. The MECP2 gene has four exons that code for two different isoforms of a protein that controls and regulates the activity of other genes by inhibiting their transcription. Molecular studies of the MECP2 gene have shown that the clinical phenotype of RS is far broader than the one initially described and has numerous variants, which may be either more or less severe, and there are even mutations in males and in other non-Rett phenotypes, as well as in cases of mental retardation in which the aetiology is unknown. More recently, in the variants with early epilepsy, mutations have been found in another gene--CDKL5. CONCLUSIONS: The work carried out in recent years shows the vast complexity of neurological developmental diseases and illustrates the need to make further progress in molecular studies.

Adolescent↗
PubMedDate not supplied

Effect of interposition material on mechanical behavior in partial physeal resection: a canine model.

A canine model was used to investigate the mechanical properties of the partially resected physis and the role of load-sharing interposition material. Ten puppy knees were loaded axially, with strain gauges placed across the proximal tibial physis. After partial physeal resections, the knees were retested with and without polymethylmethacrylate (PMMA) in the resection gap. PMMA interposition moderated the change in physeal displacement noted with increasing areas of resection. The Heuter-Volkman law predicts decreased growth in response to increased physeal stress. We therefore recommend use of a load-sharing interposition material in resection of large physeal arrests in weightbearing areas.

Animals↗
PubMed1989

[Value of the ultrasonic method of examining children under 1 year of age with pyelonephritis].

The paper treats the experience gained with the use of ultrasonography for investigation of the urinogenous organs in pyelonephritis children of the first year of life. The clinicolaboratory parameters as well as the data of the instrumental research methods including the roentgenourologic and echographic data were analyzed. This made it possible to define the importance of ultrasonography in these patients' examination and the examination routine. It is concluded that ultrasonography of the urinogenous organs in pyelonephritis children of the first year of life in one of the principal research methods, which should be performed before the use of other instrumental methods. Based on the echographic appearance approximately 1/3 of the children with pyelonephritis were suspected to have congenital developmental diseases of the urinogenous organs, whose nature was unraveled and specified by excretory urography. One should not exaggerate or underestimate the significance of each research method. Of importance are also the results of clinical, laboratory, echographic and x-ray studies.

Age Factors↗
PubMed1989

[Life after urostomy. A retrospective study].

The study reported, which was based on a questionnaire and psychological tests, examined cystostomy patients with respect to the work-up and acceptance of their altered body. It was noted that 30% of the patients judged their situation as good, and 25% could accept the cystostomy, but a great many has to live with sexual disturbances, reduced social mobility, increased dependence, and psychic consequences; some had to give up their jobs. Sex, earlier psychosomatic diseases, developmental disorders in early childhood, which influence the personality, significantly affect the acceptance of the stoma. The problems are discussed. Suggestions are made, which include a plan for a holistic therapy.

Adaptation, Psychological↗
PubMed1985

[Achievements and prospects of the development of surgical stomatology at the Leningrad Medical Institute for Postgraduate Training of Physicians].

The author makes an analysis of the achievements of the Soviet surgical stomatology in such main problems as injury of the maxillofacial area, inflammatory diseases, developmental defects. The role of scientists of the Department of Surgical Stomatology of the Leningrad Medical Institute for Postgraduate Training is shown.

Education, Dental, Continuing↗
PubMedDate not supplied

[Phacomatoses. Pathogenesis - Classification - Vascular aspects].

The pathogenesis of the phacomatoses, developmental diseases of the embryonic plates, permits an understanding of the different manifestations which characterize these disorders. This pathogenesis also constitutes the best basis for a rational classification. The author sets out the main features of this pathogenesis and its practical applications, and then considers the principal vascular aspects of the phacomatoses, especially in Osler-Rendu disease, Blue Rubber Bleb Naevi, Mafussi's syndrome, the haemangioblastomatoses, Bailey's glomangiomatosis, the Louis-Bar syndrome, Struge-Weber angiomatosis, the syndrome of Bonnet-Dechaume and Blanc, Cobb's syndrome, the angio-osteo-hypertrophic syndromes, von Recklinghausen's neurofibromatosis, Bourneville's tuberous sclerosis, and the melanic phacomatoses.

Adolescent↗
PubMedDate not supplied

Spondylocostal dysplasia and cardiac anomalies in one dizygotic twin.

A 13-day-old, preterm, male infant was referred for respiratory distress syndrome (RDS) and jaundice. His twin sister had died of RDS on the second day of life in another hospital. The patient had typical features of spondylocostal dysplasia. Ventricular septal defect (VSD) and patent ductus arteriosus (PDA) were also diagnosed by echocardiographic evaluation. Parental consanguinity was not reported. There were no other similar cases in the family, and his twin sister and five-year-old living sister were free of deformities. Therefore, autosomal-recessive transmission may be considered first; however, because the patient was the only affected individual in this family, second denovo autosomal-dominant mutation should also be considered. This is the first reported case of spondylocostal dysplasia with VSD and PDA to our knowledge.

Abnormalities, Multiple↗
PubMed1997

Triple innominate osteotomy and rotational acetabular osteotomy in the treatment of congenital hip dysplasia.

Congenital hip dysplasia is a developmental disease which predisposes patients to osteoarthritis of the hip. We compare the results and complications of triple innominate osteotomy and rotational acetabular osteotomy in the treatment of this disease. Between 1984 and 1992, 27 patients with 30 dysplastic hips received reconstructive procedures at National Taiwan University Hospital. Fourteen patients (16 hips) with a median age of 18 years were treated by triple innominate osteotomy. Nine of 16 hips had concomitant femoral osteotomy. Another 13 patients (14 hips) with a median age of 24 years were treated by rotational acetabular osteotomy. We compared the radiologic and functional results, complications and satisfaction of the patients in these two groups. Patients who underwent rotational osteotomy showed more correction in roof obliquity than patients who had triple innominate osteotomy. The functional results when evaluated by Harris scores, were better in patients who had triple innominate osteotomy than rotational osteotomy. Complications included one resubluxation of the hip in each group as well as one perforation of the hip joint and one pin break and nonunion at the osteotomy site in the rotational osteotomy group. Patients who had triple innominate osteotomy were more satisfied with the results. With proper selection of patients and accurate performance of the procedure, both triple innominate osteotomy and rotational osteotomy may be used effectively for the treatment of congenital hip dysplasia. However, in our study, patients who underwent rotational osteotomy had better anatomic correction, while those who underwent triple innominate osteotomy had better functional results.

Acetabulum↗
PubMed1991

[Effect of hyperbaric oxygenation on normalization of intestinal function after surgical treatment of Hirschsprung disease and anorectal developmental defects in children].

Performed were 264 procedures of hyperbaric oxygenation (HBO) in 93 children operated on for Hirschsprung's disease and anorectal developmental defects. The positive effect of HBO on the main links of pathogenesis of many postoperative complications caused by general and local hypoxia was noted. HBO contributes to improvement in viability of the intestinal wall, stabilizes intestinal peristalsis, decreases retention of liquid in the stomach and likelihood of the anaerobic infection development. Performance of hyperbaric oxygenation in combination with the conventional principles of postoperative therapy permits to shorten the duration of the use of parenteral nutrition, decrease a frequency of purulent-septic complications.

Anal Canal↗
PubMed1996

[Developmental anomalies and congenital diseases of the pancreas].

Developmental anomalies of the pancreas result from fusion failure between the dorsal and ventral pancreatic ducts (pancreas divisum) or from rotational failure of the ventral bud (pancreas anulare). These variations and anomalies of the ductal anatomy can be asymptomatic throughout life or can cause varying symptoms in different age periods. Pancreas divisum and pancreas anulare can be confirmed exclusively by means of pancreatography. Congenital disorders of the pancreas derive from genetic defects involving different organ systems, which usually dominate the clinical symptoms. Developmental anomalies and congenital disorders of the pancreas lead to varying morphological alterations of the organ which can be assessed by means of modern imaging.

Adult↗
PubMed1982

Left-handedness: association with immune disease, migraine, and developmental learning disorder.

We report an experimental study designed to test the following hypothesis derived from clinical observations: There is an elevated frequency in left-handed individuals and in their families of immune disease, migraine, and developmental learning disorders. In two separate investigations the frequency of these conditions was compared in strongly left-handed subjects and in strongly right-handed controls. In each of the investigations we found markedly higher frequencies of immune disease in the left-handers than in the right-handers. The rate of learning disabilities was also much higher in the left-handers than in the right-handers in both investigations. In a second study the frequency of left-handedness was compared in patients with migraine or immune disease and in general population control subjects free of these disorders. There was a higher frequency of left-handedness in patients with migraine and myasthenia gravis than in controls. We present a brief outline of a hypothesis that may account for an increased frequency of immune disease in left-handers and in their families.

Functional Laterality↗