Familial segregation of simple and complex chromosomal rearrangements]

We report our observations about familial segregations of chromosomal aberrations: the simple forms and complex rearrangements. Congenital malformations and mental retardation, can be present both in unbalanced and in balanced translocations. Various hypotheses have been proposed to explain this phenomenon: in particular a possible "position effect" or genic mutation or genomic imprinting. In our study we have used both standard techniques and techniques with high resolution banding to investigate if the rearrangements were balanced or not. Molecular study and gene dosage have been used when possible, to define the correlation with the clinic phenotype.     

Hispanic rhinoplasty in the United States,with emphasis on the Mexican American nose

Because an increasing number of Hispanic patients are seeking nasal surgical treatment, a critical analysis of 25 consecutive Hispanic rhinoplasties was performed. After a review of the patient data and preoperative photographs, a new classification was developed, based on the type of deformity rather than geographical origins (as previously used). A treatment paradigm is offered for each type of deformity. Type I involves a high radix, a high dorsum, and a nearly normal tip and is often referred to as a Castilian nose. Treatment consists of a closed functional reduction rhinoplasty, with dorsal reduction and minor tip changes. Type II involves a low radix, a normal dorsum, and a dependent tip and is a new designation. Treatment consists of a finesse rhinoplasty with a radix graft, minimal dorsal changes, use of a columellar strut for support, and open tip suturing. Type III involves a broad base, thick skin, and a wide tip deformity, with its worst expression in the mestizo nose. Treatment consists of a balanced rhinoplasty with minimal dorsal alteration but maximal lobular reduction and an open-structure tip graft. The following conclusions with respect to Hispanic rhinoplasty in the United States are important: (1) an enormous anatomical diversity of deformities is present, in contrast to Asian and black noses; (2) three distinct types of deformities have been identified, each of which requires a different surgical approach; (3) a wide variety of surgical techniques are necessary, in contrast to other ethnic noses; (4) conservative dorsal reduction is essential for type II and III noses; and (5) limitations imposed by the skin envelope are far less than presupposed, and the results are better than generally recognized. As the Hispanic population grows and becomes more prosperous, plastic surgeons in the United States can expect to encounter an increasing number of Hispanic patients requesting rhinoplasty.     

NEURAL METHODS OF CALIBRATION OF SENSORS FOR GAS MEASUREMENTS AND AROMA IDENTIFICATION SYSTEM

The article presents the neural methods of calibration of gas sensors for use in an artificial electronic nose for gas measurements. Different neural network solutions will be presented and compared. They include the classical multilayer perceptron, neuro-fuzzy networks and support vector machines. The other aspect illustrated in the article is the introductory preprocessing of the measured sensor signals in order to attain the highest possible efficiency of the gas measuring system. The theoretical considerations will be supported by the numerical experiments concerning the application of the electronic nose. The first practical aspect is concerned with the application of the developed system for classification problems and will be illustrated in the examples of the recognition of the biocomponents in the gasoline and the recognition of smells of cosmetic cream at the aging process. The second one belongs to the estimation problem and is concerned with the determination of the concentration of the particular gas components in the mixture of gases.

PRACTICAL APPLICATIONS

The results presented in the article may find practical application for calibration of the electronic nose in gas measurements. The electronic nose is widely used for smell recognition. It may find practical application in the petroleum, cosmetics or food industry for the assessment of the quality of their products. Military application is also of great interest.     

Diced cartilage grafts in rhinoplasty surgery

The use of diced cartilage grafts in rhinoplasty surgery was recently revived by Erol with the publication of his technique for "Turkish delight" grafts (i.e., diced cartilage grafts wrapped in Surgicel). The present study details the authors' experience with 50 consecutive diced cartilage grafts used in three configurations during a prospective study of 50 primary and secondary aesthetic rhinoplasty procedures performed by the senior author (Daniel). Part I consists of 22 diced cartilage grafts wrapped in Surgicel and placed in the radix (n = 14), radix/upper dorsum (n = 4), and full-length dorsum (n = 4). All grafts were performed adhering meticulously to Erol's technique without modification. This portion of the study was halted abruptly at 4 months because of the unexpected absorption and clinical failure of all diced cartilage grafts wrapped in Surgicel. Subsequently, five patients had revision surgery, and biopsy specimens were taken at the prior grafting site and analyzed histologically. After this clinical failure, part II of the study began, consisting of 20 patients who had diced cartilage grafts wrapped in fascia. The range of applications was comparable: radix (n = 12), radix/dorsum (n = 3), and full-length dorsum (n = 5). Because of our prior practice of overcorrecting by 20 percent with diced cartilage grafts wrapped in Surgicel, we had excessive amounts of material in six of our initial diced cartilage wrapped in fascia radix grafts, but no subsequent grafts. The overcorrections were easily reduced at 6 weeks to 11 months postoperatively using a pituitary rongeur under local anesthesia, and the material was sent for histologic analysis. Minimum 1-year follow-up of all 20 cases has shown maintenance of the grafts without evidence of absorption. Part III of this study comprised eight patients who had diced cartilage grafts without a fascial covering placed throughout the nose, including on the sides of osseocartilaginous rib grafts to the dorsum. At 14 months, there was no evidence that any of these grafts had been absorbed. Histologic analysis of the biopsy specimens from the diced cartilage grafts wrapped in Surgicel showed evidence of fibrosis and lymphocytic infiltrates with small amounts of Surgicel visible on birefringent microscopy. Remnants of cartilage were present but were metabolically inactive on the basis of negative glial fibrillary acidic protein staining. Control specimens of fresh septal cartilage and banked septal cartilage were remarkably similar to each other and demonstrated normal cartilage architecture and cellular activity. The diced cartilage grafts wrapped in fascia showed coalescence of the diced cartilage into a single cartilage mass, with viable cartilage cells and normal metabolic activity on the basis of glial fibrillary acidic protein staining. All of the diced cartilage grafts wrapped in Surgicel absorbed and failed to correct the clinical problem for which they were performed. All of the diced cartilage grafts wrapped in fascia and pure diced cartilage grafts did correct the clinical deformities and appear to have survived completely. The diced cartilage grafts wrapped in fascia placed along the dorsum were distinctly palpable throughout the postoperative period, as was one prior case with a 6-year follow-up. The authors' clinical experience confirms the experimental studies of Yilmaz et al. that question the use of Surgicel for wrapping diced cartilage grafts in clinical rhinoplasty surgery.     

Analysis of the African American female nose

The African American nose has been broadly classified as ethnic yet it differs significantly in morphology from that of other ethnic groups with which it is categorized. The objectives of this study were to (1) establish an objective protocol for analysis of the African American female nose using anthropometric measurements, and (2) determine whether subjective subcategorization schemes are a reliable replacement for anthropometry. African American women (n = 107) between the ages of 18 and 30 years consented to participate in this study. Photographs and 14 standard anthropometric measurements were taken of the face and nasal region, including nose length, nose width, special upper face height, intercanthal distance, mouth width, nasal bridge inclination, nasal tip protrusion, ala thickness, nasal root width, nasal bridge length, tangential length of ala, length of columella, nasofrontal angle, and nasolabial angle. Nasal indices including nose width-nose height index, nasal tip protrusion-nose height index, and nasal tip protrusion-nasal width index were calculated. In addition, photographic analysis was performed to evaluate nostril shape, nasal base shape, and nasal dorsal height. Proportional relationships and subcategorization schemes were evaluated. A new method of nasal analysis for the African American woman uses the proportional relationships of the anthropometric measurements. Proportional relationships included a columellar to lobule ratio of 1.5:1, a nasolabial angle of 86 degrees, and an alar width to intercanthal distance ratio of 5:4. The nasal dorsal height classification scheme was the most reliable for subjective analysis. The degree of variability found within this group of young African American women is illustrated by the following indices and their respective ranges: nose width-nose height index mean, 79.7 (range, 57 to 102); nasal tip protrusion-nose height index mean, 33.8 (range, 23 to 46); and nasal tip protrusion-nose width index mean, 42.8 (range, 32 to 61). The guidelines provided are a baseline from which to begin analysis and evaluation.     

De novo microdeletion on an inherited Robertsonian translocation chromosome: a cause for dysmorphism in the apparently balanced translocation carrier.

Robertsonian translocations are usually ascertained through abnormal children, making proposed phenotypic effects of apparently balanced translocations difficult to study in an unbiased way. From molecular genetic studies, though, some apparently balanced rearrangements are now known to be associated with phenotypic abnormalities resulting from uniparental disomy. Molecular explanations for other cases in which abnormality is seen in a balanced translocation carrier are being sought. In the present paper, an infant is described who has retarded growth, developmental delay, gross muscular hypotonia, slender habitus, frontal bossing, micrognathia, hooked nose, abundant wispy hair, and blue sclerae. Cytogenetically, she appeared to be a carrier of a balanced, paternally derived 14;21 Robertsonian translocation. Analysis of DNA polymorphisms showed that she had no paternal allele at the D14S13 locus (14q32). Study of additional DNA markers within 14q32 revealed that her previously undescribed phenotype results from an interstitial microdeletion within 14q32. Fluorescent in situ hybridization was used to show that this microdeletion had occurred de novo on the Robertsonian translocation chromosome. These observations may reactivate old suspicions of a causal association between Robertsonian translocations and de novo rearrangements in offspring; a systematic search for similar subcytogenetic rearrangements in other families, in which there are phenotypically abnormal children with apparently balanced translocations, may be fruitful. The clinical and molecular genetic data presented also define a new contiguous gene syndrome due to interstitial 14q32 deletion.     

The 11q;22q translocation: A European collaborative analysis of 43 cases

Summary Translocation between the long arms of chromosomes 11 and 22 is usually detected in offspring with an unbalanced karyotype following a 3:1 disjunction resulting in partial trisomy. Since by the end of 1976 it was suspected that this translocation might be more frequent than one would deduce from published reports, it was decided to call for a collaborative effort in Europe to collect unpublished cases. In response, 42 cases were collected in Europe, and one case from New Zealand was added. The following countries were represented with the number of cases indicated in parentheses: Czechoslovakia (2), Denmark (4), Finland (3), France (6), Germany (1), Italy (5), The Netherlands (9), Sweden (6), United Kingdom (4), Yugoslavia (2). The wide geographical distribution indicates a multifocal origin of the translocation. Among the unpublished cases, 31 were ascertained as unbalanced carriers [47,XX or XY,+der(22),t(11;22)] and 12 as balanced balanced carriers [46,XX and XY,t(11;22)]. Among the published cases, 10 were ascertained in unbalanced and 3 in balanced carriers. The breakpoints of the translocations indicated by the contributors varied, the most frequently reported being 11q23;22q11 (25 cases), followed by q25;q13 (10 cases). While the first one seems more likely, it was not possible to decide whether the breakpoints were the same in all cases.All 32 probands with unbalanced karyotypes had inherited the translocation, 31 from the mother and only 1 from the father. This ratio became 43:1 when the published cases were added. A segregation analysis revealed that in families ascertained through probands with unbalanced karyotypes there was a ratio of carriers to normal (all karyotyped) 54:55, not a significant difference. The formal maximum (minimum) recurrence risk for this unbalanced translocation was calculated to be 5.6% (2.7%). When the ascertainment was through a balanced proband, the maximum risk was 2.7%. The risk was calculated as 5.7% for female and 4.3% for male carriers. The mean family size was 1.67 for the offspring of female carriers and 0.78 for the offspring of male carriers. This significant difference suggests that heterozygosity for the translocation reduces fertility in males. Indeed, several of the probands with balanced karyotypes were ascertained because of sub- or infertility. Only 2 de novo translocations were found among the 59 probands, and both, were among the 12 cases ascertained as balanced carriers. The source, quality, and quantity of the clinical data for the subjects with unbalanced karyotypes were variable, and no definite conclusions were possible about phenotypes. The following signs were recorded in 10 or more of the 45 cases: low birth weight, delayed psychomotor development, hypotonia, microcephaly, craniofacial asymmetry, malformed ears with pits and tags, cleft palate, micro-/retrognathia, large beaked nose, strabismus, congenital heart disease, cryptorchidism, and congenital dislocation of the hip joints. Many signs were similar to those considered typical of trisomy 11q, and the phenotype coincided almost completely with the presumptive phenotype of complete trisomy 22. No cases with coloboma was recorded, while other signs of the cat-eye syndrome were found in several probands. This might indicate that individuals with the cat-eye syndrome and carriers of the unbalanced 11/22 translocation have the same segment of 22 in triplicate plus or minus another chromosome segment.     

板党多糖对小鼠实验性糖尿病的改善作用

目的：探讨板党多糖对小鼠糖尿痛的改善作用及其机制。方法：采用四氧嘧啶（Alloxan）建立糖尿病小鼠模型,观察板党多糖对糖尿病小鼠血糖（FBG）、胰岛素（INS）水平,血清中超氧化物歧化酶（SOD）、谷胱甘肽过氧化物酶（GSH-Px）活性及丙二醛（MDA）含量的影响以及脾脏、胸腺系数的变化。结果：板党多糖能明显降低糖尿病小鼠的FBG和INS水平（P〈0．05,P〈0．01）,增强SOD及GSH—Px的活性,减少MDA的含量（P〈0．01）,升高脾脏、胸腺系数（P〈0．05）。结论：板党多糖具有降血糖,改善胰岛素抵抗的作用。     

Effects of temperature and wind on facial temperature, heart rate, and sensation.

Skin temperature measurements of the face have shown that the cheek cools faster than the nose and the nose faster than the forehead. The cooling effect of wind is maximum at wind speeds between 4.5 and 6.7 m/s. Cold winds produce significant bradycardia, which is, however, much more pronounced during the expiratory phase of respiration. A significant correlation was noted between cooling of face and the reflex bradycardia observed. Similarly, a very significant correlation was noted between drop in skin temperature and subjective evaluation of cold discomfort. Consequently, the drop in skin temperature, reflex bradycardia, and subjective evaluation are parameters which are directly affected by cold wind and can be used as adequate indicators of the degree of discomfort. When comparing the present results with the windchill index, it was found that in the zone described as "dangerously cold" the index fits well with the physiological measurements. In the zone described as "bitterly cold," the index by comparison with actual skin temperature measurements and subjective evaluation underestimates the cooling effects of combined temperature and wind by approximately 10 degrees C.     

天门冬水提液及其纳米中药对衰老模型小鼠NOS、NO、LPF的影响

目的:探讨中药天门冬及其纳米化后对D-半乳糖衰老模型小鼠血清和肝的抗氧化作用.方法:采用D-半乳糖致衰老小鼠分别ig相同剂量的天门冬水提液及其纳米中药15 d,测定衰老小鼠血清中一氧化氮合酶(NOS)的活性,一氧化氮(NO)含量及肝组织中脂褐素(LP下)的含量.结果:天门冬水提波及其纳米中药均能显著增强小鼠血清中NOS的活性(P＜0.01),提高N0含量(P＜0.05),降低LPF含量(P＜0.05),且纳米中药的药效强于天门冬水提液的药效(P＜0.05).结论:天门冬水提液及其纳米中药均有抗氧化作用,且纳米中药比水提液药效更好.     

Karyotypes ofMegaselia scalaris (Diptera) wild-type and translocation strains

Making use of somatic pairing of homologous chromosome arms and of balanced translocations as cytogenetic markers, the three chromosome pairs of the phorid flyMegaselia scalaris have been identified and described. From measurements of the compliments a standard karyotype was constructed. Identification of the chromosomes allows cytogenetic, phenotypic and molecular markers to be assigned to specific chromosomes. Sex linkage of t(1;2) and t(2;3) translocations define chromosome 2 as the normal sex determining chromosome pair in our translocation strains, and therefore also, probably, in the wild-type strain from which they were derived. No differences between X and Y with respect to size of arms or C-bands were detected.     

Air entry in infant resuscitation: oral or nasal routes?

Wilson-Davis, S. L., S. L. Tonkin, and T. R. Gunn. Air entry in infant resuscitation: oral ornasal routes?. J. Appl. Physiol.82(1): 152-155, 1997.The current recommendation for resuscitation of infants is to blow air into both the nose and mouth.We have observed that mothers cannot cover both the nose and mouth oftheir infants. We compared postmortem tracheal and esophageal air entryby using the nose, combined nose and mouth, and mouth routes in eightinfants. Air entry into the trachea occurred at lower pressures(P < 0.05) via a nose mask than via a combined nose and mouth mask or via a mouth mask. Air entry into thetrachea occurred at lower pressures (P < 0.05) via the nose route in the neutral and extended neck positionscompared with the flexed position. We were unable to demonstrate aneffect of the route of air entry on esophageal air entry. The findings indicate that the nasal route of air entry is more effective than thecombined nose and mouth or mouth routes and that neck flexion impedesair entry. We recommend that parents are taught to blow air into theirinfants' noses if the infant stops breathing.

     

The effect of otolith and semicircular canal convergence on the VOR during eccentric rotation

VOR gain modulation was systematically investigated in the Rhesus monkey (M. mulatta) during centric and variable eccentric (up to 50 cm) sinusoidal rotation (4 Hz, 0.75 degree) with the nose facing in- or outward to test convergence of otolith and semicircular canal afferences. Earth-stationary lit LED-targets were placed at different distances (12-180 cm) from the monkey. Results were compared to biological demands. During centric rotation at 4 Hz when smooth pursuit mechanisms do not play a role, VOR gain--as expected--was approximately 1 without dependence on target distance. Phase of VOR and centrifuge were shifted by about 180 degrees as was predicted. If the monkey was rotated eccentrically with the nose facing outward the expected gain enhancement for close targets was obtained. Maximal experimental VOR gain during 4 Hz rotation was 4.4 which was close to demand at 50 cm eccentricity and 15 cm target distance (predicted gain: 4.6). If the nose points inward three situations have to be distinguished from simulation: (1) target behind the axis of rotation--VOR gain decrement should occur; (2) target on the axis of rotation--"inverse VOR suppression"; (3) target between monkey and axis of rotation--phase reversal. Experimentally, VOR gain decrement was obtained (situation 1). VOR gain was minimal (but not zero) for targets around the axis of rotation (situation 2). Situation 3 has not been investigated in detail so far.     

天门冬纳米制剂对小鼠抗氧化系统的影响

目的:探讨中药天门冬及其纳米制剂对小鼠心肌线粒体中超氧化物歧化酶(SOD)活性,丙二醛(MDA)含量,肝组织中谷胱甘肽过氧化物酶(GSH-Px)活性的影响,观察纳米制剂能否更有效地改善机体的抗氧化能力.方法:采用D-半乳糖致衰老小鼠分别ig相同剂量的天门冬水提液及其纳米中药15 d,测定衰老小鼠心肌线粒体中SOD活性、MDA含量及肝组织中GSH-Px活性.结果:天门冬水提液及其纳米中药均能显著增强天门冬及其纳米中药均可提高小鼠心肌线粒体中SOD的活性(P<0.01),肝组织GSH-Px活性(P<0.01),降低心肌线粒体中MDA(P<0.05),且纳米中药的药效强于天门冬水提液的药效(P<0.01).结论:天门冬纳米制剂抗氧化能力优于天门冬超声波水提液.     

Extracts of Rehmanniae radix, Ginseng radix and Scutellariae radix improve glucose-stimulated insulin secretion and β-cell proliferation through IRS2 induction

Recent studies have revealed that beta-cell dysfunction is an important factor in developing type 2 diabetes. beta-cell dysfunction is related to impairment of the insulin/IGF-1 signaling cascade through insulin receptor substrate-2 (IRS2). The induction of IRS2 in beta-cells plays an important role in potentiating beta-cell function and mass. In this study, we investigated whether herbs used for treating diabetes in Chinese medicine-Galla rhois, Rehmanniae radix, Machilus bark, Ginseng radix, Polygonatum radix, and Scutellariae radix-improved IRS2 induction in rat islets, glucose-stimulated insulin secretion and beta-cell survival. R. radix, Ginseng radix and S. radix significantly enhanced glucose-stimulated insulin secretion compared to the control, i.e., by 49, 67 and 58%, respectively. These herbs induced the expression of IRS2, pancreas duodenum homeobox-1 (PDX-1), and glucokinase. The increased level of glucokinase could explain the enhancement of glucose-stimulated insulin secretion with these extracts. Increased PDX-1 expression was associated with beta-cell proliferation, which was consistent with the cell viability assay. In conclusion, R. radix, Ginseng radix and S. radix had an insulinotropic action similar to that of exendin-4.     

Automatic drought stress detection in grapevines without using conventional threshold values

Aims

Because the water status of grapevines strongly affects the quality of the grapes and resulting wine, automated and early drought stress detection is important. Plant measurements are very promising for detecting drought stress, but strongly depend on microclimatic changes. Therefore, conventional stress detection methods require threshold values which define when plants start sensing drought stress. There is however no unique method to define these values. In this study, we propose two techniques that overcome this limitation.

Methods

Two statistical methods were used to automatically distinguish between drought and microclimate effects, based on a short preceding full-irrigated period to extract plant behaviour under normal conditions: Unfold Principal Component Analysis (UPCA) and Functional Unfold Principal Component Analysis (FUPCA). Both techniques aimed at detecting when measured sap flow rate or stem diameter variations in grapevine deviated from their normal behaviour due to drought stress.

Results

The models based on sap flow rate had some difficulties to detect stress on days with low atmospheric demands, while those based on stem diameter variations did not show this limitation, but ceased detecting stress when the stem diameter levelled off after a period of severe shrinkage. Nevertheless, stress was successfully detected with both approaches days before visible symptoms appeared.

Conclusions

UPCA and FUPCA based on plant indicators are therefore very promising for early stress detection.     

Using GEFs to deorphanize odorant receptors

Odorant perception is initiated when odorants activate uniquecombinations of odorant receptors (ORs) expressed in the ciliaof olfactory sensory neurons in the nose (Buck and Axel 1991;Malnic et al. 1999). One of the greatest challenges in the olfactoryscience is to correlate ORs with their ligands (to deorphanizethe ORs). The determination of OR–ligand pairs shouldreveal how the OR family is used to generate diverse odorantperceptions (Keller et al. 2007, Menashi et al. 2007). However,these studies are complicated     

Nasal support and lining: the marriage of beauty and blood supply

Assured of a robust blood supply by its narrow pedicle centered on the septal branch of the superior labial artery, the pivoting septal flap provides nasal support from the radix to the most distal nasal tip and from the tip to the columella base--plus a large bonus of lining tissues for the nasal vault and vestibules. Lining flaps from such intranasal tissues are thin, vascular, and flexible. They allow the use of primary cartilage grafts and the establishment of a subsurface architecture in the shape of a nose. When visualized through a conforming forehead flap, the normal landmarks and highlights are restored. In cases of total nasal amputation, a pivoting septal flap permits the fabrication of dorsal nasal support weeks before lining and cover flaps are assembled.     

Distortion of olfactory perception: diagnosis and treatment

Clinically, olfaction can fail in any of three ways: (i) decreased sensitivity (hyposmia, anosmia) and two types of distortion (dysosmia); (ii) distorted quality of an odorant stimulation (troposmia); (iii) perceived odor when no odorant is present (phantosmia, hallucination). The distortions are usually much more upsetting to a person's quality of life than a simple loss. An ipsilatersal loss of olfactory sensitivity is often identified in the nostril with any type of olfactory distortion. The pathophysiology of a stimulated distortion (troposmia) is likely a decreased number of functioning olfactory primary neurons so that an incomplete characterization of the odorant is made. In phantosmia, two possible causations include an abnormal signal or inhibition from the primary olfactory neurons or peripheral olfactory or trigeminal signals that "trigger" a central process. The clinician's goal is to carefully define the problem (e.g. taste versus smell, real versus perceived, one versus two nostrils), to perform the appropriate examination and testing and to provide therapy if possible. Treatment includes assurance with no active therapy (because many of these will naturally resolve), topical medications, systemic medications, anesthesia to parts of the nose and, rarely, referral for surgical excision of olfactory neurons. Endoscopic transnasal operations have the advantage of treating phantosmia and sometimes allowing a return of olfactory ability after the operation.     

Power curves in rhinomanometry

In diagnostic evaluation of the nose and allergology, the transnasal pressure delta p and the volume flow V is measured during breathing. It is shown that information is lost when measurements are represented form of a rhinomanogram. It is proposed using the measurements to derive the power during breathing and the mean volume flow of a breathing cycle. At a variable amplitude of breathing, the respiration power can be represented as a function of the mean air flow. For this purpose the software of available rhinomanometers merely has to be modified.