Stereospecific anomalies in the structure of five completely sequenced yeast chromosomes

Using an original computer program we analysed complete nucleotide sequences of chromosomes I, II, III, VI and IX in yeast cells. As a general rule, we found large stereospecific anomalies near genes with a presumed high expression level (a full catalogue of such anomalies for 5 genes with highest CAI in each chromosome is presented). As a rule, they are also present at mobile genetic elements. Many large stereospecific anomalies are situated next to the sites of specific anomalies of general nucleotide composition-regions devoid of specific dinucleotides. We have noticed many "trains" (lines) of different stereospecific anomalies, possibly showing areas of cooperative binding of different regulatory and structural proteins to DNA. In several, but not all, analysed chromosomes we found a new class of especially large stereospecific anomalies related to repetitive DNA of small length (less than or around 100 nucleotides).     

Modification of IgH PCR clonal analysis by the addition of sucrose and cresol red directly to PCR reaction mixes

We present the findings of a "new" sublethal MCA syndrome in three siblings, one female and two boys, the only children of healthy, non-consanguineous parents. In addition to prenatal growth retardation and early demise, they presented the same pattern of multiple malformations: relative microcephaly with bird-headed face, microphthalmos/coloboma iris/cloudy corneae, genital anomalies with hypospadias and cryptorchidism in the two males. Associated anomalies included: cardiac defects (2/3), unilateral cleft lip/cleft palate (1/3), anal stenosis (2/3) and unilateral renal agenesis (1/3).     

Identification of Blastomyces dermatitidis in the stool of a dog with acute pulmonary blastomycosis

Cloacal anomalies are extremely rare and have variable presentations. Prenatal diagnosis can be difficult especially if they present in late gestation. Here we present two cases diagnosed in the late third trimester and review the literature regarding prenatal diagnosis of cloacal anomalies.     

A case of split notochord syndrome: presence of dorsal enteric diverticulum adjacent to the dorsal enteric fistula

Like umblical enteric remnants (eg, umblical sinus and omphalomesenteric fistula), enteric remnants can be seen on the dorsal aspect of the body (dorsal enteric sinus, dorsal enteric fistula IDEF], dorsal enteric diverticulum) in conjunction with complete cleft of the vertebral column. Complete cleft of the vertebral column associated with gastrointestinal tract and central nervous system anomalies is known as "split notochord syndrome" (SNS). The authors present an unreported variant of SNS having dorsal enteric diverticulum adjacent to the DEF. The patient died 17 days after surgical repair.     

Evaluating techniques of myocardial preservation for aortic valve replacement: operative risk

The authors observed two cases of hyperprolinaemia (one of type I and the other of type II) which were asymptomatic. The anomalies described up to the present time in association with hyperprolinaemia are inconstant, nonspecific, and extremely heterogeneous. This suggests that the relationship between hyperprolinaemia and other anomalies is purely coincidental, and that a therapeutic approach by diet is unjustified.     

Vater or Vacterl syndrome (author's transl)

Analysis of malformations in 65 newborns with limb anomalies, 39 with esophageal atresia with tracheoesophageal fistula, and 41 with anal atresia confirmed the nonrandom tendency for the defects of the VATER or VACTERL syndrome to associate together. 11 new patients with 4 or more of these anomalies were compared with 41 previously reported cases. There was good agreement with reference to the frequency of the major malformations noted in the VACTERL association. While anal atresia was not so common in our patients, cardiac anomalies and radial limb dysplasia occurred somewhat more frequently. In accordance with previous findings we also emphasize a single umbilical artery as one of the malformations in the spectrum of the VACTERL association (V = vertebral defects and vascular anomalies). Because of the high incidence of rib anomalies in our patients and in earlier cases with complete medical records it is suggested that the scope of the VACTERL association should be enlarged by this malformation. Thus the R in VACTERL would stand not only for renal defects but als for rib anomalies. Furthermore, the spectrum of anomalies could be extended by auricular defects (A = anal atresia and auricular defects). When one of these VACTERL components is found attention should be drawn to the possibility of the presence of the other associated anomalies. The developmentally correlated malformations seen in the VACTERL syndrome are generally sporadically observed. At the present time the etiology is unknown but heterogeneity is suggested. Although a causal relationship between maternal intake of progesteron/estrogen during the vulnerable period of embryogenesis and the VACTERL syndrome has been suggested, none of the mothers of our patients were exposed to these hormones during early pregnancy. Cytogenetic investigation in one patient and his mother showed a so-called marker chromosome 9 (C9qh+ variant) which is difficult to interpret at the present time.     

How to appoint a senior house officer

A considerable body of evidence exists to suggest that genes play a dominant role in the etiology of the dental anomalies reviewed. It has been postulated that some kind of genetically controlled interrelationship may exist for some of these coincidental dental anomalies, as evidenced by their frequency of association. It has also been speculated that a "common genetic defect" may give rise to different phenotypic manifestations, including missing, malformed, and even ectopic and malpositioned teeth. The maxillary teeth that develop in the critical marginal areas of the dental lamina, namely the lateral incisors, canines and second premolars, seem most susceptible. Such dental anomalies may be symptoms of an inheritable developmental disturbance of tooth structures. Knowing that these dental anomalies can be inherited, a familial history and early clinical or radiographic detection of one anomaly, could alert parents and clinicians to the high likelihood of detection of other defects in the same individual and similar defects in other family members. Early diagnosis is important so that interceptive pediatric and orthodontic opportunities in relation to missing, malformed and ectopically erupting teeth are not overlooked. Further family studies are necessary to reveal the mode of inheritance of some of these dental anomalies and twin studies comparing monozygous and dizygous twins would enable an estimation of the extent of their inheritance.     

Congenital malformations. 1,238 cases of malformed infants in a 25-year (1950 to 1974) continuous series of 49,665 deliveries. Epidemiological and statistical study

In a study carried on 25 years and about 50 000 births, the authors analyse 1 238 malformed children, with two purposes: 1. to determine a maternal population with high risk of malformations, in order to have a better survey and to look for many anomalies before the birth: 2. to make a "portrait" of the malformed child in order to suspect the existence of congenital anomalies during the obligatory examination in neo-natal time.     

Epididymitis in infants--a possibility]

Usually, acute scrotum in infants is due to torsion, but there are reasons to believe that primary inflammation occurs more often than supposed. Urethrovasal reflux is the primary mechanism, and it is often associated with urogenital anomalies among infants and dysfunctional voiding among young boys. Colour Doppler ultrasound, scintigraphy and surgical exploration are the tools for differentiating epididymitis from torsion. We present a six months' old child with epididymitis, who was investigated because of suspected torsion. The investigations showed bacteruria, but no anomalies.     

An index for paresis and defective healing--an easily applied method for objectively determining therapeutic results in facial paresis (author's transl)

Residuals of facial paralysis consist of a great variety of cosmetic and functional anomalies which differ in quality and/or quantity. An internationally standardized evaluation of such defects is mandatory for the assessment of the results of different therapeutic procedures. In the present study, a system has been developed to record the results of facial paralysis following therapy. Such a system does not require specialized training, instrumentation or require significant time for completion. A clearly-defined "Yes-No" evaluation criteria is established which creates a high interscorer reliability. The usefulness of this scoring system was tested by three examiners on 42 patients following facial nerve surgery, with an obtained interscorer reliability of 93%.     

The impact of routine obstetric ultrasonographic screening in a low-risk population

OBJECTIVES: Our goal was to develop a framework for evaluating the current controversy regarding routine obstetric ultrasonography in a population of low-risk pregnancies. STUDY DESIGN: A retrospective chart review was performed for all low-risk pregnancies from a single obstetric practice during 1990 to 1994, to determine the accuracy of screening ultrasonography for fetal anomalies. All patients received a routine ultrasonographic examination at 18 to 20 weeks' gestation. Neonatal records for all patients were evaluated for the presence of both major and minor anomalies. The data were analyzed with attention to the classification of anomalies (all anomalies vs major anomalies, detectable vs nondetectable). RESULTS: A total of 860 fetuses in 854 pregnancies were evaluated. Anomalies were present in 5.35% (46/860); these were major anomalies in 1.16% (10/860) and minor anomalies in 4.19% (36/860). The sensitivity, specificity, and positive and negative predictive values for the diagnosis of all anomalies were 8.7%, 99.9%, 80%, and 95.7%, respectively. However, if only major anomalies detectable by ultrasonography are included, these values become 75%, 100%, 100%, and 99.9%, respectively. There was one false-positive diagnosis not affecting outcome, a small ventriculoseptal cardiac defect. Postnatal ascertainment of anomalies was excellent, as determined by an incidence of ventriculoseptal defects of 1 in 120. CONCLUSION: Distinguishing between major and minor anomalies and between ultrasonographically detectable versus nondetectable anomalies is essential in the evaluation of the diagnostic accuracy of screening ultrasonography. Any comparisons of studies examining the effectiveness of prenatal screening for congenital anomalies with ultrasonography should use the same outcome: major anomalies identifiable by ultrasonography.     

Postoperative prognosis of congenital cardiac anomalies

Congenital cardiac anomalies cannot be merely classified as "less", "more", and "very" complex. However, postoperative prognosis is also determined by: the wide variability in severity of certain anomalies; their frequent association with other cardiac or non-cardiac malformations; age at the time of surgery; the era, mode and quality of initial and subsequent treatment. Chosen examples will illustrate how recent progress has altered prognosis. The role of early, specific and multidisciplinary care in an appropriate center is emphasized.     

Epithelial anomalies in chronic pancreatitis as a risk factor of pancreatic cancer

BACKGROUND/AIMS: The relationship between chronic pancreatitis and the development of pancreatic cancer is still a matter of dispute. Our aim was to determine the frequency of hyperplastic, metaplastic and dysplastic epithelial anomalies in the course of chronic pancreatitis and the potential steps in their development to malignancy. METHODOLOGY: The study was based on biopsy material of 70 patients with clinically diagnosed advanced chronic pancreatitis, who underwent partial or total pancreatectomy, as well as other operations. The patients were assigned to 2 groups: Group I (n = 41) with calcifying chronic pancreatitis; Group II (n = 29) with other forms of the disease. Histological sections were stained with hematoxylin-eosin, Mallory-azan, Gomori's silver method, and glycosaminoglycans (PAS and Alcian blue staining). Special interest was focused on the type and incidence of epithelial ductal and acinar cell anomalies, and on the degree of parenchymal scarring. RESULTS: Hyperplasia of the ductal epithelium was present in 31.4%, focal squamous metaplasia in 21.4%, mucous metaplasia in 11.1%, cellular dysplasia in 8.6%, dysplastic acinar cell nodules in 21.4%, and "tubular complexes" in 30.0% of all cases. The differences in the frequency of these changes, except for ductal epithelial hyperplasia, were not statistically significant in two comparable groups. Advanced pancreatic fibrosis was associated with epithelial anomalies in 65.7% of all cases. CONCLUSIONS: From the morphological point of view, the adequate prerequisites for the consideration of advanced forms of chronic pancreatitis, independent of type, as a risk factor of pancreatic cancer exist, necessitating the surgical removal of pathological lesions.     

Microstructural Investigations of the White and Deformed Layers Close to the Turned Surface of Ti-6Al-4V

In the aircraft industry, along with geometrical and dimensional integrity, the surface integrity of manufactured parts is a necessity. In fact, severe anomalies generated during machining may have a substantial impact on the lifetime of the parts. Nevertheless, these anomalies are not well known in terms of microstructures such as the white layer in titanium alloys. Based on this observation, the present paper deals with microstructural investigations performed on Ti-6Al-4V white and deformed layers generated during turning with a round uncoated carbide insert. The aim of this study is to characterize these anomalies in terms of microstructure and phases. In particular, this study provides a better understanding of metallurgical transformations in the sublayer of machined surfaces through qualitative models.

     

Congenital anomalies associated with hypospadias

We did a retrospective survey on 200 patients with hypospadias to determine what other congenital anomalies were present. The 56 patients with associated anomalies included 16 who had abnormal excretory urograms and 10 of these 16 patients had defects requiring surgical correction.     

Unusual anorectal anomalies. A clinical contribution

Anorectal malformations (ARM) include a spectrum of anomalies which have been subdivided as "high", "intermediate" and "low"; a fourth group, defined as "miscellaneous", collects the forms which are most rarely observed. It is important, for a specialist, to know the last ones under the diagnostic and/or therapeutic profile. In this paper, the various problems observed in five cases of ARM considered particularly rare are analysed: a case of anorectal agenesia with recto-cloacal fistula and short uro-genital sinus; a rectal atresia with normal anal canal; a case of anorectal stenosis; an incomplete anal membrane; an anal agenesia with scrotal fistula.     

A record-linkage study on risk factors for cause-specific infant mortality

Infant death certificates were linked with birth certificates for infants born to residents of Tohoku, Tokai and Kyushu regions in 1989 (n = 409, 679, or about one-third of all births in Japan), to examine the effects of variables, as reported on birth certificates, on cause-specific infant mortality. "Certain conditions originating in the perinatal period" and "congenital anomalies" accounted for nearly 90 percent of neonatal deaths, while "congenital anomalies", "injuries and poisoning" and "sudden infant death" were responsible for about 65 percent of postneonatal deaths. Mortality rates for almost all causes of infant deaths, except injuries and poisonings, increased as birth weight decreased not only in the neonatal period but also in the postneonatal period. This suggests that low birth weight places some infants at higher risk of death, and conditions that lead to low birth weight independently contribute to the risk of infant death. Cox's proportional hazards linear model was used to assess the effects of variables on infant mortalities by causes of death. An extremely strong birth weight effect was noted for "certain conditions originating in the perinatal period" and "congenital anomalies". Being a male infant and late order of birth in multiparity were other risk factors for deaths from "congenital anomalies", while being a male infant, resident of Tohoku region and maternal stillbirth experience related to deaths from "certain conditions originating in the perinatal period". Elevated risks of sudden infant death syndrome (SIDS), of which mortality rate in Japan was considerably lower than those in most developed Western countries, i.e. 0.23 per 1,000 live births in 1989, were associated with low birth weight, being a male infant, low maternal age, late order of birth in multiparity and illegitimacy. Low maternal age, late order of birth in multiparity and illegitimacy, also, related significantly to increased risk of infant deaths for "injuries and poisoning". These results suggest the independent contributions of socioeconomic factors to infant mortality, especially postneonatal mortality, from SIDS, "injuries and poisonings".     

Skeletal and cardiac malformations with thrombocytopenia: a new syndrome?

We describe a female patient with multiple anomalies suggestive of a new syndrome. Manifestations include: VSD and ASD, mild developmental delay, conductive hearing loss, minor facial anomalies, thrombocytopenia, and radiological findings (including carpal fusion). Some of these manifestations may be present in the Keutel syndrome, IVIC syndrome, and the 10qter deletion syndrome. However, none of these syndromes can explain the spectrum of anomalies seen in our patient.     

First branchial cleft anomalies: report of 12 cases

First branchial cleft anomalies account for only 1-8% of all branchial anomalies. Several classification systems have been proposed to aid in the diagnosis of these defects. We present a series of 12 patients with first branchial cleft anomalies classified according to anatomic criteria. The preferred treatment is complete excision. For patients with acutely inflamed masses, surgery should be performed only after resolution of the infection has been achieved with adequate drainage in combination with antibiotic therapy.