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The lateral arm fasciocutaneous free flap is a versatile donor site of sensate soft tissue for reconstruction and augmentation of the head and neck. The lateral arm flap can be quickly harvested without interference to the head and neck team and with minimal morbidity to the patient. For these reasons, this flap has become our soft-tissue flap of choice.
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The likelihood of a paternally expressing imprinted gene in chromosome region 6(q23-24) has been highlighted by cases of transient neonatal diabetes mellitus (TNDM) in which paternal uniparental disomy (UPD) for chromosome 6 or paternal duplication 6(q23-qter) was detected. We present the case of a 38-year-old man with moderate to severe intellectual delay, short stature, small hands and feet, eye abnormality, small mouth, and obesity (without hyperphagia) beginning in mid-childhood. The perinatal and neonatal histories were normal. The patient had a duplication within 6q. Fluorescence in situ hybrisation studies were performed with single and dual hybridisations using a chromosome 6 library probe, short and long arm subregional probes, 6q23-24, 6q25.3-6qter locus-specific probes, and a 6q telomere probe. The hybridisation results defined an inverted duplication of 6q24.3 to 6q27. DNA studies with microsatellite markers from 6p and 6q showed regular biparental inheritance of chromosome 6 and confirmed that the duplication was paternal in origin. Our patient appears to be the first one known to have paternal duplication of chromosome area 6(q24-q27) who did not have TNDM as an infant. He has remained nondiabetic, although obesity, without hyperphagia, has been a constant problem since its onset in mid-childhood.
Maternal cigarette smoking during the first trimester of pregnancy is associated with an increased risk of having a child with an oral cleft. Compounds present in cigarette smoke undergo bioactivation and/or detoxication. Phase I of this process results in the formation of reactive epoxides, which can form DNA adducts initiating and promoting mutagenesis, carcinogenesis, or teratogenesis. Microsomal epoxide hydrolase (mEH; gene symbol EPHX1) catalyzes hydrolysis of epoxides. Phase II involves attachment of a moiety (e.g., glutathione) to the compound mediated by a variety of enzymes, including glutathione S-transferase, generally resulting in a decreased reactivity. Recent studies suggest an association between the EPHX1 codon 113 polymorphism or homozygous null GSTM1 allele and the risk of carcinogenesis, emphysema, phenytoin-associated oral clefting, and the risk of spontaneous abortion. This study explores the association between EPHX1 codon 113 and homozygous null GSTM1 genotypes and oral clefting among infants whose mothers smoked during pregnancy. Case infants were diagnosed with isolated cleft lip with or without cleft palate (CL/P). EPHX1 codon 113 allelotyping was performed on 195 samples (85 cases, 110 controls) by PCR/RFLP analysis. 130 samples (79 cases, 51 controls) were tested for the GSTM1 homozygous null genotype using PCR. Using the odds ratio as a measure of association, we did not observe elevated risks of CL/P associated with either allelic comparison. This suggests that when mothers smoke periconceptionally, their infants having these alleles at either (or both) loci were not at substantially increased risk for CL/P compared to infants with the wild-type alleles.
This paper reports on a family with popliteal pterygium syndrome (PPS), which was ascertained through a baby with most of the major signs of the syndrome. The mother, who had a repaired cleft palate and toe syndactyly, had been aware that her syndactyly was familial, but her unpreparedness for the birth of a child with PPS led to interest in, and a subsequent review of, the differnetial diagnosis and the variable expression of the clinical manifestations of this syndrome. Upon review, some earlier reported cases were excluded as PPS, and certain ascertainment and reporting biases that could affect such an analysis were considered.
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The oral-facial-digital syndromes (OFDS) comprise a group of heterogeneous genetic disorders. Considerable clinical overlap exists within the nine described types [Toriello, Clin Dysmorph 2:95-105, 1993], and with other entities such as Pallister-Hall (PH) syndrome and hydrolethalus syndrome, leading to difficulties in the classification of OFDS. We report on two brothers with findings overlapping OFDS II, VI, and Pallister-Hall syndrome who had congenital absence of the pituitary gland. This may represent a new type of OFDS or, alternatively, an example of phenotypic variability within the OFDS. It also emphasizes that agenesis of the pituitary gland can occur in a variety of syndromes with midline defects.
We describe a girl with an unusual form of ectodermal dysplasia. She was mildly mentally retarded, had normal height, weight, and head circumference, a large scalp defect, a peculiar face with large palpebral fissures, a broad nasal bridge and constantly open mouth, abnormally-modeled ears, syndactyly of fingers/toes, mild hypohidrosis, and severe onychogryposis. Her hair was short, abundant, and stiff, her eyebrows were sparse, and her skin was dry. Analysis of the literature showed that this type of association of ectodermal dysplasia and other defects has not been previously described.
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A translocation with centric fusion between the Nos. 13 and 17 acrocentric chromosomes was described in a malformed female piglet and three phenotypically normal littermates by the G-banding staining technique. Since the translocation was heterozygous, the chromosome number was 37. The differences between the translocation of the present cases and those previously reported in the domestic swine species, as well as in some wild pigs, are mentioned.
Because of their high susceptibility to chilling injury, permeabilized Drosophila embryos can not be cryobiologically preserved by slow freezing at rates low enough to prevent the formation of intraembryonic ice. Calculations indicated that to outrun the chilling injury they must be cooled and warmed rapidly at an estimated 20,000 degrees C/min or faster. Ordinarily, such cooling rates would inevitably produce lethal intracellular ice. To prevent this, embryos must contain and be surrounded by sufficiently high concentrations of glass-promoting solutes to induce vitrification on cooling and prevent devitrification on warming. Like Steponkus et al. (Nature 345, 170, 1990) we have used ethylene glycol as the solute and have exposed permeabilized 12-h embryos to it in two steps. (Permeabilization was effected by exposing dechorionated embryos to a mixture of 0.3% 1-butanol in n-heptane for 90 or 110 s.) The two steps were (i) a 30-min exposure to 2 M ethylene glycol at 23 degrees C and (ii) a 5-min exposure to 8.5 M ethylene glycol [+/- 10% polyvinylpyrrolidone (PVP)] at 5 degrees C. The volumetric response to the first step indicates that full permeation of the 2 M glycol has been approached by 30 min. The point of the second step is to raise the intraembryonic concentration of ethylene glycol to near 8.5 M ethylene glycol by osmotic dehydration. Survival based on hatching is some 45% at this point. When 12-h embryos in 8.5 M glycol containing 10% PVP are then cooled to -205 degrees C at approximately 100,000 degrees C/min and warmed at about that rate, an average of about 12% survive (hatch), although in about half the runs 15-29% survive. Survivals in the absence of PVP are usually poorer but have been as high as 40%. Currently, 5% of the surviving larvae develop to adult flies (Steponkus et al. reported 18% hatching and 3% development to adult). Embryos that develop but do not hatch show readily detectable abnormalities in mouth parts and dorsal closure. Very high warming rates are much more critical to survival than are very high cooling rates; for example, none survive when warming is 2000 degrees C/min. The deleterious effect of slow warming is exerted between -80 and -40 degrees C. The lack of reciprocity between the effects of time spent cooling and time spent warming argues against ascribing death to chilling injury. Rather, it and other data argue for ascribing death to the devitrification during warming of cytoplasm that vitrified during cooling.(ABSTRACT TRUNCATED AT 250 WORDS)
An in situ bioassay using mouthpart deformities in Chironomus riparius larvae was developed to monitor sediment toxicity. Second-instar larvae, along with a standardized amount of food and sediment taken from the study locations, were enclosed in cages that were placed on the sediment surface of rivers. Mouthpart deformities were screened after larval molting to the fourth instar (exposure time: 7-10 days). Mouthpart deformities of caged and field larvae (when present) were related to the estimated sediment toxicity. By summing toxicant concentrations and normalizing them to the organic matter and clay contents, a significant relationship between toxicity levels and mouthpart deformities in the mentum was revealed. Results suggest that the pattern of observed deformities was indicative of site toxicity rather than a characteristic of the laboratory larval population used. The main advantage of the proposed in situ bioassay is the possibility to assess the incidence of deformities at sites where C. riparius does not occur naturally.
C-CAM is a cell surface glycoprotein that is involved in cell adhesion and may play a role in histogenesis and organogenesis. It is a member of the carcinoembryonic antigen (CEA) gene family, which is a subfamily of the immunoglobulin gene superfamily. We have analyzed the expression of C-CAM during normal and disturbed craniofacial development in the mouse by immunohistochemistry and in situ hybridization. Developmental disturbances were induced by retinoic acid (RA) treatment of pregnant mice. Normal and malformed fetuses were examined on days 14, 15, 16, 17 and 18 of gestation. The expression of C-CAM was detected first at day 16. With age, the signal became gradually stronger. C-CAM was detected in the epithelia of both ectodermal and mesodermal origin, including oral and respiratory epithelia, epithelia of the developing vessels, glands and their ducts. In the RA-treated fetuses, the expression of C-CAM was higher in the epithelium of the oral cavity than in that of the nasal cavity, with a distinct borderline between differentiating nasal and oral epithelium of the palatal shelves. However, the submucosal nasal glands and ducts showed higher expression than oral glands in both normal and RA-treated mice. The expression of C-CAM did not differ significantly between control and RA-treated animals. The presence of C-CAM in all proliferating craniofacial epithelia indicates that this molecule may play an important role in development.
A family with 7 persons affected with whistling-face-syndrome in 3 successive generations is described. The clinical variability of the syndrome within one family is demonstrated by means of examining particular characteristics of four daughters in the family. Six affected persons are female; the only male carrier died in early infancy because of the severity of symptoms. The known autosomal dominant inheritance combined with clinical variability and bias towards female manifestation is present in this family.
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