Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P50583 (asymmetrical)
 12,197 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A family is described in which sometimes asymmetrical brachydactyly, with nail dysplasia of the involved fingers, has been transmitted through 6 generations affecting 6 males and 15 females. The thumbs and feet have been normal. This previously unreported condition is inherited as an autosomal disorder with full penetrance and variable expressivity, and causes only minor inconvenience.
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PMID:Hereditary brachydactyly with nail dysplasia. 64 44

A 3-year-old boy developed an abnormality of the forearm and wrist characterized by asymmetrical overgrowth, premature ossification of the distal ulnar epiphysis, shortening of both bones of the forearm, dorsal bowing of the ulna and formation of an enlarged lunate from 2 ossification centers. The eccentric overgrowth of the distal ulnar epiphysis was similar to the abnormality seen in dysplasia epiphysealis hemimelica of the long bones of the lower limbs, tarsal and carpal bones.
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PMID:Dysplasia epiphysealis hemimelica of the ulna. 70 49

Craniofacial dysplasia of a syndromic pattern can usually be classified into one of two easily identifiable groups. In the first group are those malformations of the craniofacial skeleton and soft tissues that are asymmetrical in form and in the other, those that are principally symmetrical. Clinical studies have demonstrated that affected subjects in the symmetrical group frequently improve in terms of facial appearance as growth and development proceed to maturity, while those with asymmetrical defects often deteriorate in this respect. Embryological studies on animal models of these malformations have shown that asymmetrical lateral facial dysplasia and symmetrical mandibulofacial dysplasia exhibit discrete and widely disparate causal mechanisms of malformation. Analysis of these mechanisms and their effects on subsequent growth and development has suggested significant variations in the timing and technique of reconstructive procedures which will enable the surgeon to produce the most effective results when used for the rehabilitation of the afflicted.
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PMID:The embryological basis of craniofacial dysplasias. 91 64

45 children (3 years 9 months old in average), suffering from congenital dislocation of the hip or acetabular dysplasia have sustained a bilateral innominate osteotomy in a single stage. Two different operative procedures have been used: "simultaneous osteotomy" (15 children) and "successive osteotomy" (30 children). The post-operative follow-up lasted 4 years 3 months. On both sides, the correction of acetabular deformity was obtained, the average value of the acetabular angle which was 36.6 in a pre-operative state, being 17.1 post-operative and 11.5 at the last follow-up. Complications were rare (3 superficial infections, 1 Kirschner wires migration and 2 hip instabilities which called for a capsulorraphy). The results were excellent for 83 hips, fair for 3 hips in 3 children (asymmetrical shift of the osteotomy) and poor for 4 hips in 3 children (who were contraindications of the Salter's osteotomy). The authors conclude that one-step bilateral innominate osteotomy is viable and simple. It makes a second operation unnecessary and results in a better angular gain compared to that obtained after unilateral osteotomy.
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PMID:[Salter's single-stage bilateral pelvic osteotomy]. 183 64

A model of posterior urethral valves in fetal lambs was developed in order to evaluate the effect of intrauterine urinary obstruction on the developing kidney. Complete urethral obstruction was induced in five fetal lambs at 43 to 45 days of gestation. Two control fetal lambs underwent sham operations. At full term (140 days), two of the five experimental lambs and both control lambs were available for postmortem examination. Results of gross and histological examination of the control lambs were normal. In contrast, the kidneys of the experimental lambs were markedly asymmetrical in size. Histological examination of the kidneys in experimental lambs showed cystic dilatation of the collecting ducts and occasional cystic dilatation of Bowman's spaces, features compatible with obstruction. Also noted were peripheral cortical cysts and primitive tubules lined with cuboidal epithelium and surrounded by fibromuscular collarettes, characteristic of renal dysplasia. One of the infant lambs had many characteristics of the prune-belly syndrome, including a wrinkled, markedly distended abdomen, deficient abdominal wall musculature, flared chest wall, limb deformities, and undescended testes. These results suggest that early in utero urethral obstruction (at the beginning of the second third of gestation) causes renal dysplasia. The results also support the hypothesis that the prune-belly syndrome results from abdominal distention that occurs early in gestation.
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PMID:Early bladder outlet obstruction in fetal lambs induces renal dysplasia and the prune-belly syndrome. 213 19

Of all the bony anomalies of the pelvis, unilateral developmental disturbances of the body of the iliac bone and the lateral parts of the os sacrum mainly affect the statics of the vertebral column. After a short description of the normal development of the os coxae and os sacrum, an attempt is made to systematize these anomalies and explain them from a developmental point of view. This is achieved by studying anatomical specimens and clinical cases. Primary disturbances concerning the growing of the cartilaginous epiphysis itself or secondary disturbances, which result from unilateral muscular palsy, can be responsible for retarded development of the body of the iliac bone. Unilateral dysplasia of the lateral part of the os sacrum could be based on disturbances of the precartilage. This is also thought to be the reason for asymmetrical formations of so-called transitional vertebrae.
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PMID:[Pelvic abnormalities affecting the statics of the vertebral column]. 223 59

Brains from male cases with dyslexia show symmetry of the planum temporale and predominantly left-sided cerebrocortical microdysgenesis. We now report on three women with dyslexia. In all brains, the planum temporale was again symmetrical. Also, in two of the brains, multiple foci of cerebrocortical glial scarring were present. In both women, many of the scars were myelinated, suggesting origination during late intrauterine or early postnatal life. In one, scars were mainly left perisylvian and involved portions of the vascular border zone of the temporal cortex. In the other, scars were more numerous and occurred in the border zone of the anterior, middle, and posterior cerebral arteries symmetrically. All three cases showed to a variable extent brain warts, molecular layer ectopias, and focal architectonic dysplasia identical to those seen in the male cases. Two women had primary brain neoplasms, an oligodendroglioma and a low-grade astrocytoma, respectively, and two women showed small angiomas. Reexamination of previously reported male cases disclosed one with myelinated glial scars. Two control brains with asymmetrical plana temporale showed myelinated glial scars as well. The significance of the anatomical findings is discussed, and possible etiological factors are considered with known effects of autoimmune diseases on the nervous system.
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PMID:Developmental dyslexia in women: neuropathological findings in three patients. 228 60

We report on our results of ultrasonography of the infant hip over 2 years. Twenty-three percent of patients with abnormal sonogram showed no clinical suggestion of hip disorder. Suspicion of dislocation based on mobility, asymmetrical trochanteric distance, click or snapping of the hip and inhibited abduction were the most useful clinical criteria predicting disease in 93%, 19% and 16%, respectively. Breech presentation and family history of hip dysplasia or dislocation were important anamnestic data (21% and 16% predictive value, respectively). The significantly shorter duration of therapy in early detected dislocation or dysplasia makes the need for early diagnosis of these disorders obvious. Special emphasis lies on the physiological maturation of the acetabulum and the femoral ossification center. Normal ranges of important diagnostic criteria and angles depending on chronological age are presented.
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PMID:Ultrasonography of the infant hip. Part III: Clinical application. 329 31

EEG examinations were carried out on 137 patients with thalidomide embryopathy aged between 7 and 22 with a mean age of 17.0. Waking and sleep EEGs were normal in 82 (59.9%), and abnormal in 55 (40.1%). The incidence of abnormal EEG was significantly high in the patients associated with mental retardation, and it increased in proportion to the severity of mental retardation. The most frequent abnormal EEG finding was slowing of the basic activity (35/137; 24.8%). The incidence of slowing was significantly higher in the patients with a sensorineural hearing impairment (26/74; 35.1%) than in those with dysmelia (9/62; 14.5%). Slowing appeared frequently in the patients with various cranial nerve symptoms (30/84; 35.7%). The incidence of slowing was found significantly high in the patients with borderline or subnormal intelligence (8/16; 50.0%), and it correlated with the severity of mental retardation. Many patients (48/84; 57.1%) showed unilateral or asymmetrical neurological symptoms. However, asymmetry or focal abnormality in EEG was shown in only 8 patients. Positive spikes appeared frequently in the patients with gonadal dysplasia. Other somatic symptoms, past medical history and family history were not related to the incidence of abnormal EEGs. Eight patients had had epileptic seizures prior to this examination. Another 2 patients had nocturnal enuresis and showed epileptic EEG abnormalities in this examination. The incidence of epilepsy was significantly higher in the patients we examined than among the general population. It is concluded that ingestion of thalidomide during pregnancy affected not only the morphological development of the limbs of the fetus, but the functions of its central nervous system, causing hearing impairment, other cranial nerve symptoms, mental retardation or epilepsy.
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PMID:Electroencephalographic study of 137 patients with thalidomide embryopathy. 343 8

The relationship between lateral eye movement directionality and type of cognitive task was investigated in a single blind subject with septo-optic dysplasia. Results from an 80-item test showed that rightward eye movements were significantly associated with verbal tasks and leftward eye movements with spatial tasks. As visual influences on oculomotor behaviour were eliminated, the findings suggested that lateralized eye movements might have arisen as a consequence of asymmetrical activation of cognitive origin triggering the frontal eye field orienting mechanism.
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PMID:Conjugate lateral eye movements and cognitive mode: blindness as a control for visually-induced oculomotor effects. 400 Apr 60


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