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At least 1,153 records · Page 64Linked to original sources
PubMedDate not supplied

[Cloverleaf cranial anomaly. Report of 2 cases].

Two cases of cloverleaf anomaly are presented. The first one was associated to complete spina bifida and flexion of elbows and knees, and the second to syndactyly of 3rd and 4th fingers of both hands; short, broad and swerved thumbs; rudimentary bilateral preaxial polydactyly, pes varus with broad first metatarsus. Authors agree with the opinion that this anomaly is a sign which may occur in disorders with early craniosynostosis and emphasise the importance of the identification of the underlying disorder because, knowing its pattern of inheritance, a proper genetic advice may be rendered. The neurosurgical procedure can be useful for cosmetic purposes and for encephalitic decompression, but the results are somewhat unsatisfactory because of the severity of the defect.

Abnormalities, Multiple↗
PubMedDate not supplied

[Poland's syndrome: presentation of two cases diagnosed during the neonatal period (author's transl)].

Two cases of Poland syndrome, diagnosed during the neonatal period, are reported. The children exhibited the following malformations: absence of the costosternal head of the pectoralis major, brachysyndactyly, hypoplasia of the upper limb. There were also other associated anomalies such as: Sprengel deformity in one case, hypoplasia of the lower limb and absence of a toe on the same site, in the other case. The authors point out the possibility of associating other multiple abnormalities and they examine the various pathogenic hypothesis presented in the literature.

Ear↗
PubMed1982

[Syndrome of inappropriate antidiuretic hormone secretion. A report of two cases with hyponatremia and hypouricemia].

Two cases of Schwartz-Bartter syndrome are reported. Both were due to malignant anaplasic tumours of the APUD type with multiple abnormal endocrine secretion, and both were accompanied with hypouricaemia of uncertain significance. The authors believe that the association of hypernatraemia with hypouricaemia should alert clinicians to the possibility of a syndrome of inappropriate antidiuretic hormone secretion (SIADH) of malignant origin.

Apudoma↗
PubMed1983

Wasp sting anaphylaxis.

Profuse hemostatic defects were demonstrable 14 hr after wasp sting anaphylaxis. The patient's plasma contained an agent or agents that interfered with the action of thrombin, impeding the release of fibrinopeptide A from fibrinogen and the hydrolysis of the synthetic amide H-D-prolyl-L-phenylalanyl-L-arginine p-nitroanilide. This inhibitor could not be equated with known plasma inhibitors of thrombin nor with heparin. Additionally, the titers of nearly all other known clotting factors were reduced as compared to levels obtained after the patient's recovery. Of particular interest were profound reductions in the titers of proaccelerin (factor V) and high molecular weight kininogen. A normal titer of Hageman factor (factor XII) argued against participation of contact-activated mechanisms in the induction of the multiple abnormalities observed. Attempts to demonstrate the release of procoagulant or anticoagulant substances from the patient's convalescent blood, plasma, serum, or leukocytes upon challenge with wasp venom were unsuccessful. The observations reported confirm and extend information concerning hemostatic abnormalities in anaphylaxis, and point out the need to examine further this puzzling association.

Adult↗
PubMedDate not supplied

CT evaluation of the lumbosacral spine.

The biologic cost-effectiveness of computed tomography (CT) versus myelography is so favorable to CT that it is now the method of choice for evaluating patients with less clear-cut clinical findings. CT is now used to detect lesions formerly difficult to diagnose, such as subluxation, arthrosis, facet osteophytes, and stenosis of the vertebral canal, as well as herniated disks and lateral disks. The findings in over 1,000 patients examined by CT for lumbosacral spinal pathology are documented. Associated or multiple abnormalities were present in about 60% of cases, with bulging or herniated disks occurring in 45% and 44%, respectively. Postsurgical arachnoiditis was seen in 43% of 64 patients studied for recurrence of symptoms after surgery.

Humans↗
PubMed1984

Plasma cysteine, cystine, and glutathione in cirrhosis.

Plasma contains three forms of cyst(e)ine: cysteine, cystine, and protein-bound cysteine. The former is a thiol and the latter two are disulfides. The levels of all three types of cyst(e)ine, as well as the cysteinyl tripeptide glutathione, were measured in the plasma of 14 normal and 10 cirrhotic individuals. All subjects ate mixed foods. Some cirrhotic patients were studied during nasogastric hyperalimentation with Vivonex (Norwich Eaton Pharmaceuticals, Norwich, N.Y.) as well as during total parenteral nutrition with FreAmine III (American McGaw, Irvine, Calif.); neither formula contains cyst(e)ine. Regardless of the nature of the diet, cirrhotic patients had significantly subnormal values for cysteine, glutathione, and albumin. In addition, the following significant changes were found to be diet-dependent: (a) elevated methionine during Vivonex, (b) subnormal taurine during mixed foods and total parenteral nutrition, (c) depressed protein-bound cysteine during total parenteral nutrition, (d) depressed cyst(e)ine thiol/disulfide ratio during mixed foods, and (e) depressed total thiol during Vivonex and total parenteral nutrition. The data indicate multiple abnormalities in sulfur metabolism in cirrhosis.

Adult↗
PubMed1984

Endometriosis and corpus luteum function. Is there a relationship?

More than 100 years after the first description of endometriosis, the pathophysiology of the disorder still remains an enigma. In addition to infertility, an increased frequency of clinically apparent spontaneous abortions (32% vs. 8-15% in the normal population and 19% in the infertile one) has been found in women with endometriosis and secondary infertility. Treatment of endometriosis with conservative surgery, danazol or both results in a frequency of spontaneous abortion within the range of the normal population's. Although the factors involved in the pathophysiology of endometriosis are probably multiple, abnormal corpus luteum function is a common mechanism that might explain both the infertility and the spontaneous abortions. Several studies suggested a relationship between endometriosis and corpus luteum function, which may be mediated by prostaglandins. However, not all the data have been supportive. We developed a hypothetical scheme (modified from Drake) that outlines possible mechanisms of endometriosis mediated by the adverse effects of increased prostaglandins. Further investigation of this scheme may provide new information about the pathophysiology of endometriosis.

Abortion, Spontaneous↗
PubMed1984

[Anatomical study of a human case of total celosomia].

The authors studied a human specimen delivered at 36 gestational weeks and presenting with a caelosomia. The various abnormalities could be classified as: superior caelosomia: ectocardia, diaphragmatic hernia; middle caelosomia: liver outside the abdominal cavity, mesenterium commune O, meso-hepato-cave; inferior caelosomia: cloacal extrophia. In addition to the forementioned abnormalities, a lumbosacral meningocele and multicystic kidneys were found. All these abnormalities are exceptionally found all together in one human specimen and this monster might be classified in the total caelosomia group.

Abdomen↗
PubMed1978

Pulmonary hypoplasia, multiple ankyloses, and camptodactyly: one syndrome or some related forms?

Four perinatally dying infants with multiple congenital malformations, including pulmonary hypoplasia, multiple ankyloses, abnormalities of the face and camptodactyly are presented. The differences both for severity of pulmonary hypoplasia and for the type of associated malformations suggest that this complex of abnormalities is not a single syndrome but a complex of related entities. These entities and some other genetical syndromes may form a "community of malformations" involving facial, skeletal (arthrogryposis, camptodactyly) and placental abnormalities.

Abnormalities, Multiple↗
PubMed1980

[A new case of pentasomy X].

Cytogenetic investigations of children with psychomotor retardation gave evidence of pentasomia X in a twelve-month-old girl. The chromosome analysis made on the basis of lymphocyte cultures showed a 49,XXXXX caryotype; up to four X-chromatin masses were found. Total ridge count (TRC) was diminished to the very low value of 15. The clinical symptoms of our case were compared with the others published in earlier papers. In accordance with the other authors we found a low birth weight, oligophrenia, multiple abnormalities of the craniofacial skeleton (hypertelorism, epicanthus, broad root of the nose, oblique axis of the eyelids), and some minor deformities of the fingers and toes. Less common signs of the syndrome are malformations of the heart and probably the hemiatrophy, especially of the face, a rather pronounced finding in our case.

Chromosome Aberrations↗
PubMed1982

[Echocardiographic study on systolic left ventricular posterior wall motion in patient with atrial septal defect].

Systolic motion of the left ventricular posterior wall (LVPW) was studied by M-mode and long-axis two-dimensional echocardiography in 35 patients (pts) with secundum type of atrial septal defect (ASD), comparing with that of 19 surgically closed ASD (post ASD), 27 with hypertrophic cardiomyopathy (HCM), 15 with old anteroseptal myocardial infarction (a-s MI) and 28 normal subjects. The results obtained were as follows: 1) Excursion of LVPW (PWE) was significantly increased in the pts with ASD compared with normal subjects (P less than 0.001), but there was no significant difference in PWE between the pts with ASD and the pts with HCM or a-s MI. 2) Mean systolic posterior wall velocity (MPWVs) was significantly decreased in the pts with ASD compared with the pts with HCM (p less than 0.05). However, no significant difference could be found in MPWVs between the pts with ASD and a-s MI or normal subjects. 3) End-systolic thickening of LVPW was significantly increased in the pts with ASD compared with normal subjects (p less than 0.05), the pts with a-s MI (p less than 0.05) and the pts with post ASD (p less than 0.01), except for the pts with HCM. There was a significant difference in % end-systolic thickness of lVPW between the pts with ASD and the pts with a-s MI or post ASD (p less than 0:05). 4) Mid-systolic thickening and % mid-systolic thickening of LVPW were significantly increased in the pts with ASD compared with normal subjects, the pts with a-s MI, the pts with post ASD and the pts with HCM (p less than 0.01). This characteristic mid-systolic bulging of LVPW in the pts with ASD was coincident with early-systolic anterior motion of IVS. 5) Basal portion of LVPW indicated the marked inward contraction during end-systole in 30 of 35 pts (86%) with ASD. In these 30 pts, association of mitral valve (MV) prolapse was observed. 6) Following surgical closure of ASD in 19 pts, MV prolapse disappeared following normalization of excessive endsystolic contraction of the LVPW in 16 pts (functional MV prolapse). In 3 pts, however, posterior MV showed multiple abnormal echoes, indicating MV prolapse or mitral regurgitation (organic MV prolapse). In conclusion, these results suggested that mid-systolic bulging of LVPW in ASD is compensatory reaction for systolic anterior IVS motion, and that mechanism of MV prolapse in ASD is related to abnormal left ventricular geometry due to excessive inward contraction of basal portion of LVPW during end-systole.

Adult↗