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PubMed1996

A controlled study of facial mobility treatment in Parkinson's disease.

The aim of this study was to evaluate the effects of orofacial physiotherapeutic treatment (OPT) on the facial mobility of Parkinson's disease (PD) sufferers. Sixteen participants with PD were allocated randomly to either the Treatment group or the Control group. A short interview between the physiotherapist and each subject was videotaped, and 10 random frames of the videotape were selected to be used in the facial expression assessment. The quantification of facial expressions was achieved by using an objective microcomputer-based measurement system, based on a mathematical model of the face (FACEM). A facial outline is obtained, as well as 12 facial measures, which represent distances between key facial landmarks. The facial assessment was performed on 3 separate occasions, that is, baseline (pretreatment), posttreatment, and follow-up (4 weeks later). A repeated measures analysis of variance (MANOVA) revealed a significant main effect of Time and a significant interaction effect between Time and Group for the Mouth-Opening Measure, suggesting that after treatment, members of the Treatment group opened their mouths to a greater degree than members of the Control group. Within the Treatment group, significant differences between pretreatment and posttreatment scores (MANOVA) were found for Mouth-Opening Measure and Mid-Top-Lip Measure. Similarly, Mouth-Opening Measure, Mid-Top-Lip Measure, Lower-Lip Thickness Measure, Top Eyelid/Iris Intersect Measure and Lower Eyelid/Iris Intersect Measure were significant across time from baseline to follow-up in the Treatment group only. No significant differences were found on any of the facial measures during the same period for members of the Control group. These findings suggest that OPT can improve facial movement and that this benefit extends in time, beyond the period of OPT itself. Such an increase in facial mobility can be expected to modify the "Parkinsonian facies" and facilitate the display of facial expressions.

Aged↗
PubMed1992

Central administration of angiotensin II receptor antagonists and arterial pressure regulation: a note of caution.

The blunting of arterial pressure increases to a variety of pressor agents or the lowering of arterial pressure in some models of hypertension following intracerebroventricular administration of an angiotensin II (AII) antagonist, has been interpreted as prima facie evidence for the involvement of the central AII system in these situations. Central administration of vasopressin or carbachol (a cholinergic agonist) produces pressor effects which have been reported to be due to an increase in the activity of the sympathetic nervous system. We now report that central administration of AII antagonists [either (Sar-1, Ile-8) AII or (Sar-1, Ala-8) AII] in rats prevents the majority (greater than 70%) of the pressor effects of intraventricular vasopressin or carbachol. These results can be interpreted in two ways. The first is that all of these pressor agents use a central angiotensinergic mechanism(s) to increase sympathetic nervous system activity. An alternative hypothesis is that centrally administered AII antagonists non-specifically inhibit sympathetic nervous system function.

1-Sarcosine-8-Isoleucine Angiotensin II↗
PubMed1991

Insulin resistance in multiple aspects of intermediary metabolism in myotonic dystrophy.

The responses of circulating intermediary metabolites to a low-dose incremental insulin infusion (basal, 0.005, 0.01, and 0.05 U.kg-1.h-1) were examined in eight ambulant subjects with the multisystem disorder, myotonic dystrophy. Eight healthy subjects matched for age, gender, and body mass index served as controls. Oral glucose tolerance (75 g) was normal in all subjects. Basal (postabsorptive) hyperinsulinemia was observed in the subjects with myotonic dystrophy (8.4 +/- 2.0 v 2.3 +/- 0.2 mU/L, P less than .01) with increased basal C-peptide levels. Basal blood glycerol (0.09 +/- 0.02 v 0.05 +/- 0.01 mmol/L, P less than .05), lactate (1.14 +/- 0.12 v 0.77 +/- 0.07 mmol/L, P less than .02), and pyruvate (0.08 +/- 0.01 v 0.05 +/- 0.01 mmol/L, P less than .02) were also elevated in these subjects. During the incremental insulin infusion, circulating insulin (F = 8.2, P less than .02) and C-peptide (F = 5.1, P less than .05) levels were significantly higher in the myotonic subjects. Despite the hyperinsulinemia, circulating concentrations of lactate (F = 9.8, P less than .01), pyruvate (7.8, P less than .02), and glycerol (F = 7.5, P less than .02) were also higher in the subjects with myotonic dystrophy, providing prima facie evidence of insulin resistance in the regulation of these metabolites. During the highest insulin rate, isotopically determined metabolic clearance rate of glucose was significantly lower in the myotonic subjects (3.6 +/- 0.4 v 5.5 +/- 0.7 mL.kg-1.min-1, P less than .05), indicating impaired peripheral glucose metabolism.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1983

Indomethacin and the fetal renal nonfunction syndrome.

A pregnancy during which both beta-adrenergics and indomethacin were administered in order to stop preterm uterine contractions is reported. After 8 wk of therapy a Caesarean section was performed. The female neonate had all the characteristics of a Potter's facies, was anuric and died after 47 h of extra-uterine life. A possible relationship between this perinatal death and the prolonged intra-uterine exposure to indomethacin is discussed.

Abnormalities, Drug-Induced↗
PubMed1978

Kinky hair disease. Report of a case.

A confirmed case of kinky hair disease is described. Findings include a defect in copper metabolism, peculiar facies, retrognathia, skeletal open-bite, generalized gingival enlargement, and skeletal radiographic abnormalities.

Brain Diseases, Metabolic↗
PubMed1986

Mitral valve prolapse in craniofacial skeletal deformities.

Mitral valve prolapse is a manifestation of a diffuse connective tissue disorder resulting from mesenchymal dysplasia, and it may have an increased association with orthognathic craniofacial deformities. Since craniofacial deformities also result from mesenchymal dysplasias, there may be a causal relationship between them and mitral valve prolapse. Mitral valve prolapse is reviewed briefly in relation to the embryologic development of the facial skeleton. A slightly increased incidence of mitral valve prolapse has been noted but not statistically studied by the authors in their orthognathic patient population. It is hypothesized that patients with mitral valve prolapse have a typical facies that can be cephalometrically measured and identified.

Electrocardiography↗
PubMed1986

Oculodentodigital dysplasia.

A case of oculodentodigital dysplasia in a 35-year-old man is reported. The diagnosis was based on the characteristic facies, microcornea, and dental dysplasia. Digital findings, although consistent with previous reports, were somewhat atypical, with almost complete aplasia of the right foot present. Although the patient appeared to be mentally retarded, it is not clear whether this can be considered a component of the syndrome or merely a coincidental finding.

Adult↗
PubMed1989

The Noonan syndrome/cherubism association.

Noonan syndrome is characterized by short stature, unusual facies, congenital heart disease, chest deformity, mild mental retardation, and cryptorchidism in males. It may be sporadic or inherited as an autosomal dominant trait and occurs between 1 in 1000 and 1 in 2500 live births. Cherubism is a giant cell lesion of the jaws thought to be transmitted as an autosomal dominant trait. It is usually recognized by age 7 years, follows a variable course, and is not known to be related to other genetic disorders. We herein report on four patients with Noonan syndrome, all of whom had cherubism. Two other probable cases are cited in the literature for a total of six known cases.

Cherubism↗
PubMed1990

Orofacial features of Scheie (Hurler-Scheie) syndrome (alpha-L-iduronidase deficiency).

Scheie syndrome is a rare inborn error of metabolism, a mucopolysaccharidosis in which deficiency of the lysosomal enzyme alpha-L-iduronidase leads to tissue accumulation of mucopolysaccharides. Scheie syndrome is a forme fruste of Hurler syndrome (gargoylism), and some patients have the phenotype of Hurler-Scheie compound syndrome. The craniofacial abnormalities include coarse facies, mandibular condylar hypoplasia, retarded tooth eruption, and cystic jaw radiolucencies--particularly about the molars. Corneal clouding may lead to blindness but, in contrast to some other mucopolysaccharidoses, mental handicap is rare in Scheie syndrome. Cardiac valve incompetence is common, as are recurrent respiratory infections. Two brothers with Hurler-Scheie syndrome are presented and the oral and systemic complications each patient had described. The syndrome is discussed with particular reference to the orofacial features.

Adolescent↗
PubMed1990

Aarskog syndrome. A case report.

A rare Aarskog syndrome is reported in a 12-year-old boy. The patient had a triad of characteristic symptoms consisting of short stature, genital anomaly, and unusual facies. Both jaws were hypoplastic with presence of crowded permanent teeth and over-retained deciduous teeth. Radiographic examination of teeth showed taurodontism, which has not been reported previously.

Abnormalities, Multiple↗
PubMed1977

Set points, settling points, and the control of body weight.

Recently a number of investigators have suggested that body weight may be controlled by a neural system which contains a reference or set point. The finding that the body weight level which animals will defend can be altered by lesions of the lateral and ventromedial hypothalamus has been taken to provide support for this claim. In this paper we describe a simple feedback control model which contains no set point, and yet is able to account in full for these and other data which have been cited in support of the existence of a body weight set point. Since such a model exists it appears to be unnecessary and unparsimonious to introduce the concept of a neural set point to explain the fact that body weight maintains a relatively constant value which is defended against certain types of challenges. Constancy and defense of body weight are at best only prima facie evidence for the existence of a neural set point controlling body weight.

Animals↗
PubMed1983

Latrodectism: variations in clinical manifestations provoked by Latrodectus species of spiders.

The clinical picture caused by the bite of Latrodectus spp. is described, including the patient's general condition with agonizing pains, cramps, spasms, motor unrest, boardlike abdomen, "facies latrodectismica", sweating, oliguria, hypertension, anxiety, mental excitation and an extended convalescence. The notorious biters are mainly L. mactans, L. variolus, L. hesperus, L. tredecimguttatus, L. hasselti, L. indistinctus and L. menavodi, all of which appear to provoke somewhat similar clinical pictures. For some species, however, there is limited data and for the toxicity of some spiders, such as L. rhodesiensis, no data are available, However, it would appear that the clinical manifestations of the venom are similar in all species.

Animals↗
PubMed1991

Larsen's syndrome with novel congenital anomalies.

A full-term female infant with the rare Larsen's syndrome who died after 2 days is presented. The infant exhibited several of the anomalies characteristically reported with this syndrome. These include multiple joint deformities, a flattened facies, hydrocephalus, cardiac defects, and tracheal stenosis. We now report two additional congenital malformations that have not been previously reported with this syndrome: complete agenesis of the anus, with the distal colon ending in a cul-de-sac, and the presence of a bifid uterus. These novel congenital anomalies further support the etiology of Larsen's syndrome as a generalized mesenchymal disorder, since they arise from a defective process of embryonal induction involving mesenchymal tissue.

Abnormalities, Multiple↗
PubMed1992

Coagulation-factor deficiencies and abnormal bleeding in Noonan's syndrome.

Noonan's syndrome is characterised by a dysmorphic facies, congenital heart disease, and short stature, and is inherited as an autosomal dominant trait. Because abnormal bleeding has also been reported, we investigated a group of patients for coagulation-factor deficits. Of the 72 individuals studied (37 male, 35 female, mean age 11.4 years), 47 (65%) had a history of abnormal bruising or bleeding. 29 patients (40%) had a prolonged activated partial thromboplastin time. Specific abnormalities in the intrinsic pathway of coagulation (partial factor XI:C, XII:C, and VIII:C deficiencies) were found in 36 patients (50%). Multiple abnormalities among these 36 patients included combined factor XI:C and XII:C deficiencies (4 patients) and factor XI:C and VIII:C deficiencies (4), and 1 patient had combined factor VIII:C, XI:C, and XII:C deficiency. There was poor correlation between a history of abnormal bleeding and coagulation-factor deficit. In five families, similar coagulation-factor deficiencies were present in first-degree relatives with the syndrome. The pattern of inherited bleeding abnormalities seen in Noonan's syndrome suggests autosomal regulation of the intrinsic coagulation pathway.

Adolescent↗
PubMed1996

Aberrant mammary tissue and nephrourinary malignancy.

Polythelia (supernumerary nipple) provides a clue to congenital and hereditary malformations of the kidney and the urinary collecting system. It is also regarded as a cutaneous paraneoplastic marker because of the significant association with urogenital malignancies. A 38-year-old man with sporadic left supernumerary nipple without evidence of ear, facies, or gonadal defects or lateral displacement of the nipples was routinely examined for the presence of renal anomalies. Investigation revealed left polycystic kidney disease with adenocarcinoma in the upper pole. The nephrocutaneous defects and renal malignancy showed a peculiar ipsilaterality. The overlap between polythelia, polycystic kidney disease with adenocarcinoma in the upper pole. The nephrocutaneous defects and renal malignancy showed a peculiar ipsilaterality. The overlap between polythelia, polycystic kidney, and renal adenocarcinoma may provide a further clue to the embryonal origin of this cancer.

Adenocarcinoma↗
PubMed1987

Otolaryngological manifestations of the Stickler syndrome.

The Stickler syndrome is a dominantly inherited, connective tissue disorder associated with retinal detachments, joint and skeletal abnormalities, and characteristic facies. We wished to evaluate patients with this disorder to ascertain the frequency of otolaryngological manifestations. Fourteen patients, 4-17 years of age, were evaluated when admitted for retinal detachment. Findings included: midface hypoplasia in all patients; mandibular hypoplasia in 11 patients; palatal anomalies in 10 patients (frank cleft in 6, submucous cleft in two, highly arched palate in two); and hearing loss in 6 patients (mixed loss in 3, sensorineural loss in 3). Hearing loss appeared more commonly in the higher frequencies; no apparent correlation was found between the presence of hearing loss and orofacial anomalies. Our experience suggests that the Stickler syndrome is not rare. Craniofacial dysmorphic features and otologic findings are sufficiently frequent to warrant otolaryngological evaluation.

Abnormalities, Multiple↗
PubMed1991

Temporal bone pathology of two infants with Larsen's syndrome.

Two infants who had multiple joint dislocations, unusual facies, and bony abnormalities, typical of the syndrome first reported by Larsen et al. (J. Pediatr., 37 (1950) 574-581) are described. This report expands Larsen's syndrome to include the following findings of temporal bone pathology. Case 1 (one year and 8 months old) showed dislocation of the malleus and incus, an abnormal foot plate, mesenchyme remaining in the attic and mesotympanum, poor development of the mastoid air cells, and poor development of the labyrinth. Case 2 (3 years and 6 months old) showed dislocation of the malleus and incus, mesenchyme remaining in the attic and mesotympanum, and an abnormal stapes. These histological findings suggest that a maldevelopment similar to that which occurs in the skeletal system occurs in the temporal bones as well as in the face and extremities including many joints.

Abnormalities, Multiple↗
PubMed1996

Otolaryngologic manifestations of multiple pterygium syndrome.

Escobar Syndrome, or Multiple Pterygium Syndrome (MPS), is a rare syndrome with multiple congenital anomalies involving the head and neck area and limbs. Affected individuals have multiple pterygia, camptodactyly and/or syndactyly as the main features of this syndrome. Patients with MPS have a characteristic facies, including ptosis, antimongoloid slant of the palpebral fissures, hypertelorism, micrognathia, neck pterygia, and a sad flat, emotionless look to the face. We present a case of MPS recently treated at our institution for the purpose of further describing the clinical features of this syndrome, emphasizing the otolaryngologic manifestations. Increased awareness of MPS will facilitate appropriate management of this syndrome.

Abnormalities, Multiple↗