Evaluation of Jump Into Action: a program to reduce the risk of non-insulin dependent diabetes mellitus in school children on the Texas-Mexico border.

Jump Into Action, a school-based non-insulin dependent diabetes mellitus (NIDDM) prevention program, encourages students to eat low-fat foods and exercise regularly to reduce their risks for developing NIDDM. A study was conducted in a school district with a predominately Hispanic enrollment to assess the effectiveness of Jump Into Action in improving fifth-graders' knowledge, self-efficacy, and behaviors regarding NIDDM prevention. Jump Into Action was found effective in increasing knowledge and self-efficacy regarding NIDDM prevention and improving dietary and exercise-related behaviors. These gains were sustained from posttest to follow-up four weeks later.

Determinants in the morphogenesis of muscle tendon insertions.

The factors that normally determine the location and insertion of a muscle were explored in human experiments of nature with early problems in morphogenesis. Monozygotic conjoined twins for whom there could be no genetic determinants for muscle attachments at the sites of juncture served as one model; these attachments had to follow general principles of morphogenesis. A second type of problem involved absence of bone that presumably antedated muscle and tendon development (e.g., genetically determined radial aplasia). A third category included mechanical alteration of early limb position that may have occurred prior to the development of muscle attachments (e.g., early amnion rupture sequence). The dissection findings from all three types imply a general hierachy of muscle tendon attachments. Tendons appear to attach preferentially to bone. In the absence of the bone to which they would normally attach, they will attach to the next closest bone. If no such bone is available, tendons may attach to other tendons; and if no tendons is available, occasionally they will attach to the fascia of another muscle. If there is no connective tissue attachment site, there will be no muscle, implying a need for function in the development and preservation of muscle.

Compression-related defects from early amnion rupture: evidence for mechanical teratogenesis.

The features of 27 cases of limb/body wall deficiency (formerly termed cyllosomus and pleurosomus) were evaluated and the anomalies were interpreted as being band-related defects and/or compression-related defects. The latter included limb deficiency, body wall deficiency, neural tube defects, scoliosis, postural deformations, growth deficiency, and short umbilical cord. It is hypothesized that the single event of early amnion rupture can explain both the band-related defects and the compression-related defects. Experimental animal studies are in accord with this hypothesis; amnion puncture of rat fetuses during early gestation produces a comparable array of defects. The term amnion rupture sequence is suggested to describe the overall pattern of malformation that results from amnion rupture whether these defects are band related, compression related, or a combination of the two. There is considerable variation in the phenotype of amnion rupture sequence, with limb/body wall deficiency representing the more severe end of the spectrum. It is important to recognize and correctly diagnose amnion rupture sequence because it is usually a sporadic event.

Limb reduction anomalies and early in utero limb compression.

Seven instances of limb reduction defects are reported with a presumed common underlying etiologic theme of early in utero limb compression, deduced as being due to a bicornuate uterus in four instances, a large fibroid in one instance, and early amnion rupture with transient amniotic fluid loss in two instances. Similar types of limb reduction defects have been experimentally produced as a consequence of early withdrawal of amniotic fluid with resultant compression of the developing limbs, leading to vascular disruption. A similar mechanism is hypothesized to have caused these seven instances of limb reduction defects.

Monozygotic twinning and structural defects.

An excess of structural defects occurs in monozygotic twins compared in dizygotic twins or singletons. The excess is composed of three categories of defects. The first includes defects which are part of the MZ twinning, such as conjoined twins and some amorphous twins. In addition, all early embryonic malformations and malformation complexes such as sirenomelia mc. holoprosencephaly mc. and anencephaly mc are increased in MZ twins. The reason for this association is considered to be the common etiology for both the MZ twinning and the early malformation problem. MZ twins provide an excellent model for appreciating the spectra of particular malformation complexes, since the twins often have different gradations in severity of the same type of structural defect. The finding of both discordant and concordant MZ twins with Goldenhar, de Lange, and Rubinstein-Taybi syndromes suggests that these "syndromes" might be early malformation complexes. The other two categories are considered secondary to the MZ twinning process. The most unique category results from any vascular interchange between the MZ twins. Depending on their nature, vascular connections may give rise to reverse flow with acardiac status in one twin during early development, or to vascular disruptions from a deceased co-twin with intravascular coagulation causing embolization in the surviving co-twin. The latter defects may include microcephaly, porencephalic cysts, hydranencephaly, intestinal atresia, aplasia cutis, and limb amputation. Unequal growth may occur as a result of artery to vein placental anastomoses. The final category is deformations due to crowding in utero during late gestation. These do not differ from those in DZ twins.

Postaxial acrofacial dysostosis syndrome.

Three patients with a postaxial acrofacial syndrome are presented; the features of these and three other previously described examples are set forth. The facies can be strikingly similar to that of the Treacher Collins syndrome. The limb deficiencies are postaxial, with absence or incomplete development of the fifth digital rays in both the upper and lower limbs. Accessory nipples have been found in most of the patients. The nature of the limb deficiencies and the accessory nipples help to distinguish this condition from Nager AFD. All of the children have normal intelligence and development; most show normal growth. All of the six cases have occurred sporadically.

Autosomal dominant microcephaly.

Four families with autosomal dominant microcephaly are reported. Although the phenotype is nondistinctive, several patients had receding or small foreheads, upslanted palpebral fissures, or prominent ears. The degree of intellectual dysfunction is not as severe as that recorded in autosomal recessive microcephaly. It would appear that autosomal dominant microcephaly is more common than previously recorded, and that head circumference measurements of siblings and parents of affected patients should become a part of the initial investigation.

The amniotic band disruption complex: timing of amniotic rupture and variable spectra of consequent defects.

Seventy-nine patients with the amniotic band disruption complex, including 54 infants with multiple system involvement and 25 with affected limbs alone, were evaluated. No two cases of the disorder were exactly alike. Defects varied from simple digital band constrictions to major craniofacial and visceral defects; fetal death may also occur. Amniotic rupture appeared to cause injury through three basic mechanisms: (1) interruption of normal morphogenesis; (2) crowing of fetal parts; and (3) disruption of previously differentiated structure. Comparison of 35 cases in which the timing of amniotic rupture could be estimated suggests that early amniotic rupture results in multiply affected infants who are frequently aborted or stillborn, whereas later rupture results primarily in limb involvement. Our findings indicate that both the spectrum of the developmental pathology and the nature of fetal outcome are determined by the timing of amniotic rupture. Appreciation of the mechanism which explains the disparate appearances of infants with the amniotic band disruption complex will allow more acurate diagnosis and appropriate counseling with respect to the sporadic nature of the disorder.

Urethral obstruction malformation complex: a cause of abdominal muscle deficiency and the "prune belly".

Abdominal muscle deficiency with a "prune belly" abdomen as been a major feature of the so-called prune belly syndrome, which has been regarded as a specific entity, although the etiology and developmental pathology are not understood. We present evidence that abdominal muscle deficiency is an etiologically nonspecific anatomic defect which is secondary to fetal abdominal distention of various causes. One of the more common causes is urethral obstruction with consequent early bladder distention, causing abdominal distention and other anomalies, a constellation of findings which we have termed the urethral obstruction malformation complex. This interpretation of the etiology of most cases of prune belly syndrome accounts for the male predominance, the observed variability in severity, and the lack of a defined mode of inheritance. Recurrence risk figures need to be redefined for each specific obstructing lesion of the urethra. The possibility of early prenatal diagnosis and management of fetuses with urethral obstruction needs further study.