A TaqI RFLP detecting single copy fragment (G80) from chromosome 7 p13-p15 (D7S373).
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Chromosomes, Human, Pair 7↗
Biomedical subjects
E Rinaldi
Publications and source records attributed to E Rinaldi.
Autografts in the treatment of osseous defects in the forearm and hand.
Twenty-one patients were treated for large defects of the forearm or hand with autografts. Seventeen of the grafts were cortico-cancellous, three were hemiarticular, and one was a hemi joint replacement at each end of the graft. None of these cases involved the whole joint or the growth plate. Cancellous grafts used to fill bone cavities or repair pseudarthroses were excluded from the survey. Patients were followed from 3 to 10 years. In all cases the graft became incorporated and function was maintained. In two cases a second operation was necessary to apply further cancellous graft because of delayed union.
Bone Neoplasms↗
Cataract formation in diabetic patients and galactose-1-phosphate uridyltransferase deficiency.
We have evaluated the levels of red blood cell galactose-1-phosphate uridyltransferase in 20 patients with cataract and in 15 subjects without cataract, suffering from compensated, noninsulin-dependent, type II diabetes. The diabetic patients were compared with a previously examined group of 65 age-matched nondiabetic subjects (25 of whom suffered from bilateral idiopathic cataract). In diabetic patients, the average galactose-1-phosphate uridyltransferase levels tended to be lower and the percentage of cases of reduced enzymatic activity tended to be higher than in the corresponding nondiabetic subjects.
Adult↗
Galactose-1-P-uridyl transferase activity in patients with congenital and infantile cataract.
The activity of red blood cell galactose-1-P-uridyl transferase in 22 patients with congenital and infantile cataract and in 18 age-matched controls was investigated. All control subjects examined showed normal enzymatic levels, while 31.8% of patients with congenital and infantile cataract presented a statistically significant reduced enzymatic activity (mean--2 SD in controls). Twenty-four parents of children with congenital and infantile cataract were also examined. Four parents were affected by congenital cataract and the other 20 showed transparent lenses. The parents were compared with a group of 20 age-matched control subjects examined previously. There was no difference in the average enzymatic activities between the groups. The results suggest that a chronic disorder of galactose metabolism may be involved in the development of congenital and infantile cataract.
Cataract↗
The first homoplastic limb transplant according to the legend of Saint Cosmas and Saint Damian.
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History, Ancient↗
The treatment of tibial fractures by elastic nailing and functional plaster cast.
From June 1984 to December 1985, 32 fractures of the tibia were treated by elastic nailing by the Ender method with functional plaster casts according to the Sarmiento method. They represented 28% of all tibial fractures treated during the same period by the traditional conservative method or by external fixators. Elastic nailing was reserved for unstable fractures produced by high velocity trauma. Union occurred in all cases after an average of 13 weeks. Complications were insignificant: shortening by 1.2 cm (1 case); recurvatum (1 case); varus (1 case); valgus (1 case), both less than 8 degrees, and thus within functionally insignificant limits for axial deviation. In one case, a 15 degree internal rotation deformity was corrected after 5 weeks by osteoclasis and fresh elastic nailing which also healed. The advantages of this type of treatment are rapid union and no pseudarthrosis or infection.
Adolescent↗
Effect of vitamin E on glutathione content in red blood cells, aqueous humor and lens of humans and other species.
High doses of orally administered vitamin E have been given to humans, rabbits and rats. Placebo has been given to control groups. At the end of the treatment period, enhanced levels of reduced glutathione (GSH) were found in the red blood cells (humans and rabbits), aqueous humor (humans and rabbits) and lens (rabbits and rats) of treated subjects and animals. The percentage of GSH converted to oxidized glutathione (GSSG) was the same in both vitamin E-supplied and control groups. The GSSG--GSH ratio remained unchanged. The plasma levels of vitamin E were significantly higher in treated than in control subjects and animals. At the end of the study, the levels of vitamin E in aqueous humor and lens of rabbit were the same in animals which received vitamin E and in animals which received placebo. Lastly, vitamin E administration did not influence ascorbic-acid levels in plasma (humans and rabbits), aqueous humor, lens and vitreous body (rabbits).
Animals↗
Possible role of galactose-1-P-uridyl transferase activity deficiency in red blood cells in the development of the presenile and senile cataract.
The activity of red blood cells galactose-1-P-uridyl transferase in 64 patients with presenile and senile cataracts (nondiabetics) and in 41 age-matched controls was investigated. All control subjects examined have shown normal enzymatic levels, while 21.9% of patients with presenile cataracts and 21.7% of patients with senile cataracts presented a statistically significant reduced enzymatic activity (mean +/- 2 SD in controls).
Adult↗
Morning glory syndrome with chronic simple glaucoma.
A 42-year-old woman had morning glory syndrome of the fundus of the right eye. The finding was related to chronic simple glaucoma and without pulsation of the staphyloma. The clinical symptoms and echographic pattern during the endocular hypertensive phase with normal intraocular pressure was studied after appropriate medication. This associated disease is attributed to the presence of a congenital malformation of the anterior chamber angle.
Adult↗
Vitamin E and red blood cell glutathione.
High doses of orally administered vitamin E (1000 IU/day) have been given to ten normal volunteers. Ten control subjects received placebo. Red blood cell glutathione was significantly higher in treated subjects than in the controls (controls: 267.5 +/- 15.7 micrograms/mL; treated: 374.8 +/- 17.3 micrograms/mL). These findings could be explained by an increase of glutathione synthesis brought about by the stimulation of glutathione synthetase activity. An alternative possibility is a reduced utilization of glutathione for the detoxification of free radicals. These two mechanisms could be effective in counteracting the glutathione content feedback of the synthetizing enzymes.
Adult↗
Red blood cells galactose-1-P-urydil transferase in senile and presenile cataracts.
There are conflicting reports in the literature regarding the role of partial deficiency of "galactosemic" enzymes (galactose-1-P-urydil transferase and galactokinase) in the development of infantile and presenile cataract. The AA. have investigated the levels of Red Blood Cell Galactose-1-P-urydil transferase in 39 cataractous patients and in 22 age matched controls. A weak correlation between the enzymatic activity deficiency and the presenile cataract has been identified. The results suggest that a chronic impairment of galactose metabolism may be a contributory risk factor in the pathogenesis of presenile cataracts; however, further investigations are required to assess the actual significance of the findings of the present paper.
Adult↗
High frequency of lactose absorbers among adults with idiopathic senile and presenile cataract in a population with a high prevalence of primary adult lactose malabsorption.
22% of a group of adult Neapolitans were found to have persistent high lactase activity, and 16% were lactose absorbers as indicated by measurement of breath hydrogen concentration and rise in blood glucose after oral lactose administration. Among adults in the same area with idiopathic senile or presenile cataract 49% were identified as lactose absorbers with the breath hydrogen test and 55% by the rise in blood glucose. These results suggest that adults able to absorb galactose from a lactose-containing diet are especially susceptible to senile or presenile cataract.
Adult↗
Plate and screw fixation by autogenous corticocancellous grafts in comminuted fractures of the femur.
The authors present the results of 25 recent cases of comminuted fractures of the femoral shaft treated by internal plate fixation supplemented by autogenous cortico-cancellous grafts. These were cases in which intramedullary nailing was not practicable and simple plate fixation was deemed to carry a high risk of failure. The results were excellent in all cases, with no complications such as failure of the fixation or pseudoarthrosis. This study confirms the validity in such cases of supplementing rigid internal fixation with autogenous cortico-cancellous grafts as a primary procedure in such high risk cases.
Bone Plates↗
Osteosynthesis with valgus osteotomy in the primary treatment of subcapital fractures of the neck of the femur.
The authors report 25 consecutive cases of subcapital fracture of the neck of the femur treated by osteosynthesis and valgus osteotomy. The results at 3 to 5 years showed bony union in all cases with only 2 cases of ischaemic necrosis (8%). Since this complication is due to vascular damage inflicted at the time of fracture the authors suggest that valgus osteotomy, which is usually only done in cases of pseudarthrosis, is also applicable to recent fractures which have a high risk of non-union.
Aged↗
Neurilemomas and neurofibromas of the upper limb.
Nine cases of solitary nerve neoplasm are reported. They include five neurilemomas and four neurofibromas in the nerve trunks of upper limbs. The neurilemomas were derived from a proliferation of the Schwann cells of a single nerve funiculus and could easily be enucleated from the remaining funicular groups, which remained intact and functioning. The neurofibromas, on the other hand, invaded and destroyed the funicular structure of the nerve, requiring nerve resection or nerve graft to restore continuity.
Adult↗
Wildervanck's syndrome with bilateral subluxation of lens and facial paralysis.
A 15-year-old female was found to have the typical features of Wildervanck's syndrome, including Klippel-Feil anomaly, abducens paralysis, retraction of the bulbi, and deafness. In addition, she had bilateral lens subluxation and facial paralysis, neither of which have been reported in patients with Wildervanck's syndrome.
Abducens Nerve↗
Chronic lumbar pain due to a localised posterior osteophytic bar.
The authors present 6 cases of chronic lumbar pain with sciatic radiation in young subjects caused by an osteophytic bar at a single level, and associated with disc degeneration at that level. The differentiation of this special syndrome demands special methods of radiological investigation, which are discussed. All the cases were in males engaged in heavy work. Surgical treatment, which necessitates removal of the bar as well as the degenerated disc material, gave excellent results.
Adult↗
[Cervical syndromes and cervical spondylosis].
The painful cervical syndromes are frequently due to arthrosis. After a complete enumeration of the many clinical syndromes, the Author analyse some conditions, from the functional anatomy point of view, of the cervical spine, responsible for the various clinical manifestations of the cervical syndromes.
Biomechanical Phenomena↗