Excess of mental retardation and/or congenital malformation in reciprocal translocations in man

Summary In this report the Leuven experience (1970–1984) on reciprocal translocations is summarized. A total of 153 unrelated index patients, carriers of different types of reciprocal translocations, and their families were investigated. Familial reciprocal, apparently balanced translocations were found in 75 unrelated families bringing the total numbers of translocation carrier parents and their offspring to 132 and 445, respectively. In 61.5% of the patients the reciprocal translocation was detected after the birth of a malformed child with unbalanced karyotype or through investigation because of recurrent spontaneous abortions, stillbirths, or infertility. In 41 patients (28 familial and 13 de novo), however, the reciprocal balanced translocation was found to be associated with mental retardation and/or congenital malformations (MR/CM) which is significantly higher than expected. This excess of MR/CM in de novo and familial balanced translocation carriers is illustrated and discussed.     

Case report on a Japanese monkey with congenital malformation of the limbs

The case of an extremely limb-malformed Japanese monkey born in the Miyajima troop in 1970 is described. The limb defect is almost symmetrical on both sides. The forelimb lacks its hand, and the hindlimb appears as if it were only a small wart. No marked chromosomal abnormalities for this malformed monkey could be found.     

MRI as a diagnostic technique in examination of the shoulder joint

The paper presents the results of examination of 95 patients with shoulder joint abnormality to define the capacities of MR imaging in the evaluation of the anatomic structures of this joint. It details the MR anatomic features of the shoulder joint. Some conditions should be adhered to while performing MRI of the joint, namely: to obtain high-quality images by correctly choosing pulse sequences and scanning planes and to know the anatomic variants of the structure of the shoulder joint.     

Observations on autotoxic effects on seed germination and seedling growth in Cirsium palustre from a spring area in Jutland, Denmark

Ethanol extracts from fresh leaves of Cirsium palustre (L.) Scop. were tested for inhibitory effects on the germination of own seeds, and dried leaves were ground and incorporated in soil to determine if growth of own seedlings was affected. Leaf extracts strongly inhibited seed germination, and leaf residues seedling growth. Inhibition was apparently not mediated by effects on pH or by nutrient deficiency.     

Morphological observations on the congenital malformation of limbs in the Japanese monkey

Congenital malformation of limbs is found in many troops of the Japanese monkey. The author morphologically examined more than ten monkeys with such malformations by means of palpation and Röntgenographing. Anatomical dissection was performed on two of these monkeys. Malformation manifests a considerable variety of forms, from the reduction or absence of fingers to almost total lack of limbs, and is prone to occur in the region of the third finger, the center of malformation, occasionally showing a “split” or “cleft” hand or foot. The latter tendency is more conspicuous in the hand than in the foot. In a word, most of the malformations are characterized by congenital amputation, though the degree varies considerably. The occurrence of supernumerary digits was not found and fusion between fingers was rare. One of the most interesting anatomical results found may be the continuation or fusion between muscles which are normally opposed to each other in action. The occurrence of malformation is more frequent in the male than in the female, and in the hand than in the foot. Little is known about the causes of such malformations, except that they do not occur, at least, according to dominant inheritance.     

Distal phocomelia of the forearm in a thirteenth-century skeleton from Poland.

The skeleton of a 35- to 40-year-old male (A.D. 1250 to 1300) with distal phocomelia (intercalary transverse) of the right forearm and severe (90-100 degrees) right-sided scoliosis is examined. Congenital malformation of the the right forearm resulted in absence of the radius and ulna, and attachment of the upper arm and hand to the trunk. Lesser abnormalities consist of a-hypoplastic right scapula and misshapened ribs and sternum. This rare deformity reflects the variability and antiquity of congenital malformations of the upper limb.     

Predicting the shapes of bones at a joint: application to the shoulder

This paper presents a novel method to explore the intrinsic morphological correlation between the bones of a shoulder joint (humerus and scapula). To model this correlation, canonical correlation analysis (CCA) is used. We also propose a technique to predict a three-dimensional (3D) bone shape from its adjoining segment at a joint based on partial least squares regression (PLS). The high dimensional 3D surface information of a bone is represented by a few variables using principal component analysis, which also captures the pattern of variability of the shapes in our datasets. Our results show that the humerus set and scapula set have highly linear morphological relationship and that the correlation information can be used as a classifier. In this study, primate shoulder bone datasets were categorised into two clusters: great apes (including humans) and monkeys. A leave one out experiment was performed to test the robustness of this prediction method. The prediction behaviour using this method shows statistically significantly better results than using the mean shape from the training set.     

Macroscopic and microscopic anatomy of the shoulder joint and the limbus glenoidalis

Macroscopical and histological examinations were carried out in order to investigate the anatomy of the limbus glenoidalis, with respect to its surrounding structures such as tendons and ligaments. Basically the crosscut limbus glenoidalis has a triangular shape, however, especially in its anterior part, it has a meniscoid or labiate form. Histologically the limbus glenoidalis consists exclusively of connective tissue, rich in cells and fibers. It originates from the fibrocartilaginous rim of the glenoid surface, which merges into the hyalin cartilage. The bundles of fibers have a circular arrangement with radially and reticularly interwoven structures near the tendons of the biceps and triceps muscle.     

Unusual pathological condition in the lower extremities of a skeleton from ancient Israel.

We report here an unusual pathology in a 1,500-year-old skeleton recovered from Bet Guvrin, Israel. The pathological changes in the lower extremities and the diagnostic difficulties are presented. We attribute this condition to Madura foot, found primarily in tropical and subtropical regions, although other diagnoses are possible and are noted. We discuss its appearance in the region in light of the historical context.