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1.
Mov Disord ; 39(6): 1054-1059, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38470080

ABSTRACT

BACKGROUND: Isolated Rapid Eye Movement (REM) sleep Behavior Disorder (iRBD) requires quantitative tools to detect incipient Parkinson's disease (PD). METHODS: A motor battery was designed and compared with the Movement Disorder Society-Unified Parkinson's Disease Rating Scale part III (MDS-UPDRS-III) in people with iRBD and controls. This included two keyboard-based tests (BRadykinesia Akinesia INcoordination tap test and Distal Finger Tapping) and two dual tasking tests (walking and finger tapping). RESULTS: We included 33 iRBD patients and 29 controls. The iRBD group performed both keyboard-based tapping tests more slowly (P < 0.001, P = 0.020) and less rhythmically (P < 0.001, P = 0.006) than controls. Unlike controls, the iRBD group increased their walking duration (P < 0.001) and had a smaller amplitude (P = 0.001) and slower (P = 0.007) finger tapping with dual task. The combination of the most salient motor markers showed 90.3% sensitivity for 89.3% specificity (area under the ROC curve [AUC], 0.94), which was higher than the MDS-UPDRS-III (minus action tremor) (69.7% sensitivity, 72.4% specificity; AUC, 0.81) for detecting motor dysfunction. CONCLUSION: Speed, rhythm, and dual task motor deterioration might be accurate indicators of incipient PD in iRBD. © 2024 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.


Subject(s)
Parkinson Disease , REM Sleep Behavior Disorder , Humans , REM Sleep Behavior Disorder/physiopathology , REM Sleep Behavior Disorder/diagnosis , Male , Female , Aged , Middle Aged , Parkinson Disease/physiopathology , Parkinson Disease/complications , Psychomotor Performance/physiology , Walking/physiology , Severity of Illness Index
2.
Vet Rec ; 154(8): 228-33, 2004 Feb 21.
Article in English | MEDLINE | ID: mdl-15005447

ABSTRACT

Ultrasonographic measurements were made at least once a month during 14 gestations in seven Tursiops truncatus and 12 gestations in five Tursiops aduncus (bottlenosed dolphins). The 121 measurements of the fetal biparietal diameter and 139 measurements of the fetal thoracic diameter in T truncatus and the 97 measurements of the biparietal diameter and 97 measurements of the thoracic diameter in Taduncus were used to establish regression lines for the increases in the diameter of the head and thorax of the fetus with time. From these relationships an easy-to-use computer program was developed to predict the date of birth of the two species of bottlenosed dolphin, and its predictions were compared with the actual dates of birth of other calves of both species. The births occurred within the range of predicted dates, and even when only a few measurements were available, the program provided accurate predictions.


Subject(s)
Delivery, Obstetric/veterinary , Dolphins , Fetus/anatomy & histology , Pregnancy, Animal/physiology , Ultrasonography, Prenatal/veterinary , Animals , Female , Predictive Value of Tests , Pregnancy , Reference Values , Ultrasonography, Prenatal/standards
3.
Clin Radiol ; 56(5): 416-9, 2001 May.
Article in English | MEDLINE | ID: mdl-11384142

ABSTRACT

AIM: This study was undertaken to investigate variations in the vascularity and grey-scale sonographic features of cervical lymph nodes with their size. MATERIALS AND METHODS: High resolution grey-scale sonography and power Doppler sonography were performed in 1133 cervical nodes in 109 volunteers who had a sonographic examination of the neck. Standardized parameters were used in power Doppler sonography. RESULTS: About 90% of lymph nodes with a maximum transverse diameter greater than 5 mm showed vascularity and an echogenic hilus. Smaller nodes were less likely to show vascularity and an echogenic hilus. As the size of the lymph nodes increased, the intranodal blood flow velocity increased significantly (P < 0.05), whereas there was no significant variation in the vascular resistance(P> 0.05). CONCLUSIONS: The findings provide a baseline for grey-scale and power Doppler sonography of normal cervical lymph nodes. Sonologists will find varying vascularity and grey-scale appearances when encountering nodes of different sizes.Ying, M.et al. (2001). Clinical Radiology, 56, 416-419.


Subject(s)
Lymph Nodes/diagnostic imaging , Adult , Aged , Analysis of Variance , Blood Flow Velocity , Chi-Square Distribution , Female , Humans , Lymph Nodes/blood supply , Male , Middle Aged , Neck , Ultrasonography, Doppler, Color , Vascular Resistance
4.
Reproduction ; 121(1): 123-9, 2001 Jan.
Article in English | MEDLINE | ID: mdl-11226035

ABSTRACT

The ovarian interstitial tissue of the wood mouse (Apodemus sylvaticus) is extensively developed. The effect of equine chorionic gonadotrophin (eCG) and human chorionic gonadotrophin (hCG) on ovarian interstitial tissue was investigated in wood mice from a laboratory stock. The tissue was assessed by measuring the relative size of the cells, cell nucleus diameter and (in adults) nuclear shape. Hormone-treated wood mice had larger interstitial cells and larger cell nuclei than untreated animals. In addition, the cell nuclei of adult hormone-treated wood mice had a smooth round or oval outline, whereas those of untreated animals had an irregular outline with spiky projections. Electron microscopy showed that the irregular spiky outline of the cell nuclei in untreated wood mice was caused by distortions of the nuclear membrane by a large number of intracellular lipid droplets; the droplets were less abundant in the hormone-treated animals. These experiments indicate that the cells of the interstitial tissue of the wood mouse are under the control of gonadotrophins, and that these cells are likely to be a site of the synthesis and release of steroid hormones. The methods used in this study to assess the state of the cells could be applied to animals from the field to investigate the role of interstitial tissue in the reproductive biology of wood mice.


Subject(s)
Chorionic Gonadotropin/pharmacology , Muridae , Ovary/drug effects , Aging , Animals , Cell Nucleus/drug effects , Cell Nucleus/ultrastructure , Female , Microscopy, Electron , Nuclear Envelope/drug effects , Nuclear Envelope/ultrastructure , Ovary/ultrastructure
5.
Reproduction ; 121(3): 419-28, 2001 Mar.
Article in English | MEDLINE | ID: mdl-11226068

ABSTRACT

Routine ultrasonographic examination of the reproductive tract was performed for periods of up to 10 years in ten female bottlenose dolphins (Tursiops truncatus aduncas) in Hong Kong. The ovaries could be reliably and repeatedly identified, lying close to the body surface, in the angle formed by the rectus abdominus and hypaxialis lumborum muscles, and were most easily located by scanning in the transverse plane from the proximal end of the genital slit towards the head. The ovaries are ovoid, with a relatively hypoechoic cortex around a central echogenic mesovarium. The echogenicity of the ovarian parenchyma appeared to increase with increasing age. This may be the result of age-related changes, such as increased fat deposition or fibrosis, or of ovarian 'scars' from multiple ovulations. Small antral follicles, developing follicles and corpora lutea can be identified within the ovarian cortex. Owing to its shape and lack of a definitive border, plus the close relationship to the intestines, the contents of which may obstruct the ultrasound beam, the non-pregnant uterus was not so easily visualized. The endometrium was poorly differentiated and difficult to see. To date, examination of the uterus using ultrasonography has provided little information about endometrial changes during the ovarian cycle in this group of dolphins. Real-time diagnostic ultrasonography provides a means to image the morphology of the reproductive organs in live female dolphins directly and provides a valuable means of assessing reproductive events in this species.


Subject(s)
Dolphins/anatomy & histology , Ovary/diagnostic imaging , Reproduction , Uterus/diagnostic imaging , Aging , Animals , Corpus Luteum/diagnostic imaging , Female , Gestational Age , Ovarian Follicle/diagnostic imaging , Ovulation , Pregnancy , Ultrasonography
6.
Curr Biol ; 10(23): 1515-8, 2000 Nov 30.
Article in English | MEDLINE | ID: mdl-11114519

ABSTRACT

Dendritic cells (DCs) are uniquely capable of presenting antigen to naive T cells, either eliciting immunity [1] or ensuring self-tolerance [2]. This property identifies DCs as potential candidates for enhancing responses to foreign [3] and tumour antigens [4], and as targets for immune intervention in the treatment of autoimmunity and allograft rejection [1]. Realisation of their therapeutic potential would be greatly facilitated by a fuller understanding of the function of DC-specific genes, a goal that has frequently proven elusive because of the paucity of stable lines of DCs that retain their unique properties, and the inherent resistance of primary DCs to genetic modification. Protocols for the genetic manipulation of embryonic stem (ES) cells are, by contrast, well established [5], as is their capacity to differentiate into a wide variety of cell types in vitro, including many of hematopoietic origin [6]. Here, we report the establishment, from mouse ES cells, of long-term cultures of immature DCs that share many characteristics with macrophages, but acquire, upon maturation, the allostimulatory capacity and surface phenotype of classical DCs, including expression of CD11c, major histocompatibility complex (MHC) class II and co-stimulatory molecules. This novel source should prove valuable for the generation of primary, untransformed DCs in which candidate genes have been overexpressed or functionally ablated, while providing insights into the earliest stages of DC ontogeny.


Subject(s)
Cell Differentiation , Dendritic Cells/cytology , Embryo, Mammalian/cytology , Stem Cells/cytology , Animals , Antigen Presentation , Antigens, CD/metabolism , B7-2 Antigen , CD40 Antigens/metabolism , Cell Line , Cells, Cultured , Histocompatibility Antigens Class II/metabolism , Integrin alphaXbeta2/metabolism , Lymphocyte Activation , Lymphocyte Culture Test, Mixed , Membrane Glycoproteins/metabolism , Mice , Reverse Transcriptase Polymerase Chain Reaction
7.
J Ultrasound Med ; 19(8): 511-7, 2000 Aug.
Article in English | MEDLINE | ID: mdl-10944036

ABSTRACT

This study was undertaken to investigate the vascular patterns and resistance of normal cervical nodes by power Doppler sonography. In 101 subjects who had a sonographic examination of the neck, 1050 lymph nodes were detected. Only central vascularity was found in normal cervical nodes. The degree of vascularity in submental and submandibular nodes was higher than that in other regional nodes. Submental nodes had a higher vascular resistance in association with a lower blood flow velocity than other regional nodes. No significant difference was found in blood flow velocities and vascular resistance between male and female subjects. The vascular resistance increased significantly with age. This study provides a baseline for vascularity within normal cervical nodes, as seen by power Doppler sonography.


Subject(s)
Lymph Nodes/blood supply , Ultrasonography, Doppler , Adult , Aged , Blood Flow Velocity/physiology , Female , Follow-Up Studies , Humans , Lymph Nodes/diagnostic imaging , Male , Middle Aged , Neck/blood supply , Neck/diagnostic imaging , Reference Values , Vascular Resistance/physiology
8.
J Reprod Fertil ; 119(2): 233-40, 2000 Jul.
Article in English | MEDLINE | ID: mdl-10864835

ABSTRACT

Eight male bottlenose dolphins, Tursiops truncatus aduncas, underwent examination of the reproductive organs to investigate the use of real-time B-mode ultrasonography in assessment of reproductive status and to establish normal ultrasonographic appearances. Ultrasonography allowed repeatable examinations which were well tolerated by all animals. Ultrasonography was used to examine the testes, epididymides, vasa deferentia, penis, bulbourethral and bulbocavernosal muscles; the prostate was not convincingly distinguished from surrounding muscles. Testicular echopatterns and size differed among individuals. Three distinct testicular echopatterns were discerned and could be used to differentiate males of different reproductive status. Ultrasonographic appearance of the testes provides useful data in assessing the reproductive status of male dolphins.


Subject(s)
Dolphins/anatomy & histology , Genitalia, Male/diagnostic imaging , Sexual Maturation/physiology , Animals , Dolphins/physiology , Epididymis/diagnostic imaging , Male , Muscles/diagnostic imaging , Penis/diagnostic imaging , Testis/diagnostic imaging , Ultrasonography , Vas Deferens/diagnostic imaging
9.
Curr Biol ; 10(1): 31-4, 2000 Jan 13.
Article in English | MEDLINE | ID: mdl-10660300

ABSTRACT

Yeast artificial mini-chromosomes have helped to define the features of chromosome architecture important for accurate segregation and replication and have been used to identify genes important for chromosome stability and as large-fragment cloning vectors. Artificial chromosomes have been developed in human cells but they do not have defined, experimentally predictable structures. Fragments of human chromosomes have also been introduced into mice and in one case passed through the germ line. In these experiments, however, the structure and sequence organization of the fragments was not defined. Structurally defined mammalian mini-chromosome vectors should allow large tracts of DNA to be introduced into the vertebrate germ line for biotechnological purposes and for investigations of features of chromosome structure that influence gene expression. Here, we have determined the structure and sequence organization of an engineered mammalian mini-chromosome, ST1, and shown that it is stably maintained in vertebrate somatic cells and that it can be transmitted through the mouse germ line.


Subject(s)
Genetic Vectors/genetics , Germ-Line Mutation , Mice/genetics , Animals , Cell Line , Chimera/genetics , Chromosomes/genetics , Chromosomes/ultrastructure , DNA, Recombinant/genetics , Embryo Transfer , Female , Fibroblasts/metabolism , Humans , Male , Mice, Inbred C57BL , Stem Cell Transplantation
10.
Int J Psychiatry Clin Pract ; 4(2): 139-42, 2000.
Article in English | MEDLINE | ID: mdl-24921450

ABSTRACT

INTRODUCTION: Few controlled data exist on the treatment of substancehaloperidol induced psychotic disorders. Our aim was to investigate the effects of risperidone and haloperidol. METHOD: 30 patients who met DSM-IV criteria for cannabis-induced psychotic disorder were randomly allocated to receive either risperidone or haloperidol in a 4-week randomized controlled double-blind clinical trial. RESULTS: There were no significant outcome differences between the two groups on any of the primary outcome measures, the Brief Psychiatric Rating Scale, Clinical Global Impression scale or the Global Assessment of Functioning Scale. No extrapyramidal side-effects (EPS), as measured by either the Simpson Angus Scale or the Barnes Akathisia Scale, emerged in the risperidone group; this was however not statistically different to the haloperidol group due to the low rate of EPS in that group. There were no significant differences between the two groups on the secondary outcome measures, use of lorazepam or biperidin. CONCLUSION: Risperidone appears to be as effective as haloperidol in the treatment of cannabis-induced psychotic disorder. (Int J Psych Clin Pract 2000; 4:139-142).

11.
Ultrasound Med Biol ; 25(8): 1169-75, 1999 Oct.
Article in English | MEDLINE | ID: mdl-10576259

ABSTRACT

The short axis to long axis (S/L) ratio is commonly used to assess cervical lymphadenopathy; however, the cut-off value used has been limited to 0.5. The accuracy of the combination of S/L ratio and nodal size has not been documented previously. We evaluated 1143 normal cervical nodes from 95 healthy subjects, and 1441 nodes from 290 patients with proven cervical lymphadenopathy. The optimum cut-off value of the S/L ratio was determined in different regions of the neck: submental (0.5), submandibular (0.7), parotid (0.5), upper cervical (0.4), middle cervical (0.3) and posterior triangle (0.4). In the submandibular and parotid regions, the combination of the S/L ratio and short axis shows substantial improvement in diagnostic accuracy when compared to the S/L ratio alone.


Subject(s)
Lymph Nodes/diagnostic imaging , Lymphatic Diseases/diagnostic imaging , Adolescent , Adult , Aged , Aged, 80 and over , Child , Female , Humans , Male , Middle Aged , Neck , Predictive Value of Tests , ROC Curve , Reference Values , Sensitivity and Specificity , Ultrasonography
12.
Ultrasound Med Biol ; 25(2): 233-40, 1999 Feb.
Article in English | MEDLINE | ID: mdl-10320312

ABSTRACT

The purpose of this study was to investigate the blood flow characteristics in the superior thyroid artery (STA) in normal females of prepubertal, reproductive, and postmenopausal age. The study was performed in 29 prepubertal girls, 27 females of reproductive age, and 26 postmenopausal women. The peak systolic velocity (PSV) and the pulsatility index (PI) of the STA were measured repeatedly during one menstrual cycle in females of reproductive age, and measured once in each prepubertal and postmenopausal subject. Different waveforms were observed in females of prepubertal, reproductive, and postmenopausal age. The PSV of the STA increased progressively in females from prepubertal to postmenopausal phases. The PI of the STA in all of the prepubertal girls was lower than that of adult females in different phases of the menstrual cycle. In adult females, the PI in the follicular phase was significantly higher than those in the ovulatory and luteal phases. In all of the postmenopausal women, the PI was comparable to that in older prepubertal subjects and in adult females during the ovulatory and luteal phases. The results suggest that oestrogen may affect thyroid blood flow during the normal menstrual cycle. Growth and progressive change of arterial structure are suggested to affect the thyroid blood flow in prepubertal and postmenopausal states.


Subject(s)
Menstrual Cycle/physiology , Postmenopause/physiology , Thyroid Gland/blood supply , Adult , Arteries/diagnostic imaging , Blood Flow Velocity/physiology , Child , Child, Preschool , Female , Humans , Middle Aged , Pulsatile Flow/physiology , Regional Blood Flow/physiology , Thyroid Gland/diagnostic imaging , Ultrasonography, Doppler
13.
Ultrasound Med Biol ; 24(8): 1097-105, 1998 Oct.
Article in English | MEDLINE | ID: mdl-9833577

ABSTRACT

This study was undertaken to evaluate the diagnostic accuracy of comparison of the echogenicity of the thyroid gland with the sternomastoid muscle in diagnosis of thyroid disorders. Fifty healthy subjects underwent a thyroid ultrasound, and 80 patients with archived thyroid ultrasound examinations (50 thyrotoxicosis and 30 thyroiditis) were reviewed. Images were measured for the image density of the thyroid gland and the sternomastoid muscle, using a transmission densitometer. Healthy thyroid was relatively hyperechoic when compared with the sternomastoid muscle (100%). Of the thyrotoxic patients, 70% showed a relatively hyperechoic thyroid compared to 47% of the thyroiditis patients. Mean image density difference in healthy thyroid, thyrotoxicosis and thyroiditis ranged from 0.1 to 1, -0.42 to 0.83, and -0.55 to 0.58, respectively. In conclusion, the relative echogenicity of the thyroid gland when compared with the sternomastoid muscle may be useful to differentiate healthy thyroid from thyrotoxicosis and thyroiditis, but does not help to distinguish thyrotoxicosis from thyroiditis. An image density difference of less than 0.1 may be considered to be abnormal, whereas a value greater than 0.83 may be considered to be normal.


Subject(s)
Neck Muscles/diagnostic imaging , Thyroiditis/diagnostic imaging , Thyrotoxicosis/diagnostic imaging , Adolescent , Adult , Aged , Female , Humans , Male , Middle Aged , Reproducibility of Results , Thyroid Gland/diagnostic imaging , Ultrasonography
14.
Ultrasound Med Biol ; 24(1): 15-20, 1998 Jan.
Article in English | MEDLINE | ID: mdl-9483767

ABSTRACT

The purpose of this study was to investigate the relationship between thyroid activity and the menstrual cycle by measuring the Doppler parameters of the superior thyroid arteries in women of reproductive age. The study was performed in 27 healthy Chinese women aged between 19 and 28 y for one menstrual cycle, and 25 age-matched healthy Chinese men for 3 weeks for comparison. In women, the peak systolic velocity increased from the follicular phase to the luteal phase, and the pulsatility index decreased from the follicular phase to the ovulatory phase and increased slightly in the luteal phase. In men, alterations in the pattern of thyroid blood flow were not observed; however, the average values of Doppler parameters during the study period in women were similar to those in men. The gender difference in the pattern of flow characteristics in the superior thyroid artery suggests effects of estrogen on thyroid function.


Subject(s)
Blood Flow Velocity/physiology , Menstrual Cycle/physiology , Thyroid Gland/blood supply , Thyroid Gland/diagnostic imaging , Ultrasonography, Doppler, Color , Adolescent , Adult , Analysis of Variance , Female , Hong Kong , Humans , Male , Pulsatile Flow , Reference Values , Sex Factors
15.
Proc Natl Acad Sci U S A ; 94(11): 5709-12, 1997 May 27.
Article in English | MEDLINE | ID: mdl-9159137

ABSTRACT

By explanting tissues isolated microsurgically from implanting strain 129 mouse blastocysts individually on STO feeder cells we have established that embryonic stem (ES) cells originate from the epiblast (primitive ectoderm). Isolated early epiblasts yielded ES cell lines at a substantially higher frequency than intact blastocysts regardless of whether they were explanted whole or as strictly single-cell suspensions. When explanted from delayed-implanting 129 blastocysts, epiblasts gave lines consistently in 100% of cases. If primary embryonic fibroblasts rather than STO cells were used as feeders, germline-competent ES cell lines were obtained readily from epiblasts of delayed-implanting blastocysts of several hitherto refractory strains, particularly when recombinant leukemia inhibitory factor was included in the medium during the initial period of culture. Because lines were obtained from the nonpermissive CBA/Ca strain at a rate of up to 56%, this approach to the derivation of germline-competent ES cell lines may not only prove generic for the mouse but also worth pursuing in other species of mammal.


Subject(s)
Blastocyst/physiology , Chimera , Stem Cells/physiology , Animals , Blastocyst/cytology , Cells, Cultured , Crosses, Genetic , Culture Techniques/methods , Female , Karyotyping , Male , Mice , Mice, Inbred C57BL , Mice, Inbred CBA , Mice, Inbred Strains , Mice, Transgenic , Pseudopregnancy , Reproducibility of Results , Sex Characteristics , Stem Cells/cytology
16.
Int J Dev Biol ; 41(2): 235-43, 1997 Apr.
Article in English | MEDLINE | ID: mdl-9184330

ABSTRACT

Remarkably little is known about mammalian embryonic stem (ES) cells despite their very widespread use in studies on gene disruption and transgenesis. As yet, it is only in the mouse that lines of ES cells which retain the ability to form gametes following reintroduction into the early conceptus have been obtained. Even in this species, most strains have so far proved refractory to the derivation of such cell lines. Apart from persisting ignorance as to how the various procedures that have been claimed to improve success actually do so, even the tissue of origin of ES remains uncertain. Furthermore, it is doubtful whether retention of pluripotency or expression of so-called "stem cell" marker molecules provide an adequate basis for classifying cells as genuine ES cells. This is because epiblast cells, their presumed precursors, lose the capacity to colonize the preimplantation conceptus well before they become restricted in the types of cell they can form or cease to express such marker molecules. In addition, it has yet to be established whether heterogeneity of cells within individual ES cell lines arises entirely during culture or is at least partly attributable to lack of homogeneity among their precursors. Finally, it has yet to be explained why ES chimeras evidently differ from those obtained by combining cells from different conceptuses in showing greater variation between tissues in the level of chimerism.


Subject(s)
Embryo, Mammalian/cytology , Stem Cells , Animals , Blastocyst/cytology , Cells, Cultured , Chimera , Mice
17.
J Ultrasound Med ; 15(6): 431-6, 1996 Jun.
Article in English | MEDLINE | ID: mdl-8738986

ABSTRACT

In 100 normal subjects who had a sonographic examination of the neck, 1211 lymph nodes were detected. In all the subjects, at least five lymph nodes were seen. The distribution, number, echogenicity, shape, presence or absence of echogenic hilus, and the sharpness of nodal borders of normal cervical lymph nodes were determined. The usefulness of these sonographic features in understanding the normal distribution and characteristics of the nodes in the Chinese population is discussed. The relationship between the shape and size of lymph node also was assessed.


Subject(s)
Lymph Nodes/diagnostic imaging , Adolescent , Adult , Aged , China , Female , Humans , Male , Middle Aged , Neck/diagnostic imaging , Ultrasonography
18.
J Med Genet ; 31(5): 383-7, 1994 May.
Article in English | MEDLINE | ID: mdl-8064816

ABSTRACT

The susceptibility of females to anencephaly is well established and has been suggested to result from a slower rate of growth and development of female embryos during cranial neurulation. We have tested this hypothesis by measuring the rates of growth and development, both in utero and in vitro, of male and female embryos of the curly tail (ct) mutant mouse strain, in which cranial neural tube defects occur primarily in females. Embryonic growth was assessed by increase in protein content, while development progression was judged from increase in somite number and morphological score. Embryos were sexed by use of the polymerase chain reaction to amplify a DNA sequence specific to the Y chromosome, and by sex chromatin analysis. We find that, during neurulation (between 8.5 and 10.5 days of gestation), males are advanced in growth and development relative to their female litter mates, but that the rates of growth and development do not differ between the sexes during this period. We conclude that rate of embryonic growth and development is unlikely to determine susceptibility to cranial neural tube defects. It seems more likely that male and female embryos differ in some specific aspect(s) of the neurulation process that increases the susceptibility of females to development of anencephaly.


Subject(s)
Embryonic and Fetal Development/physiology , Nervous System/embryology , Neural Tube Defects/embryology , Sex Characteristics , Animals , Female , Male , Mice , Mice, Neurologic Mutants , Neural Tube Defects/epidemiology , Regression Analysis , Sex Distribution
19.
Development ; 119(1): 113-21, 1993 Sep.
Article in English | MEDLINE | ID: mdl-8275849

ABSTRACT

The mouse mutations splotch (Sp) and curly tail (ct) both produce spinal neural tube defects with closely similar morphology, but achieve this by different embryonic mechanisms. To determine whether the mutants may interact during development, we constructed mice carrying both mutations. Double heterozygotes exhibited tail defects in 10% of cases, although the single heterozygotes do not express this phenotype. Backcrosses of double heterozygotes to ct/ct produced offspring with an elevated incidence of neural tube defects, both spina bifida and tail defects, compared with a control backcross in which Sp was not involved. Use of the deletion allele Sp2H permitted embryos carrying a splotch mutation to be recognised by polymerase chain reaction assay. This experiment showed that only embryos carrying Sp2H develop spina bifida in the backcross with ct/ct, suggesting that the genotype Sp2H/+, ct/ct is usually lethal around the time of birth as a result of severe disturbance of neurulation. The interaction between Sp and ct was investigated further by examining embryos in the backcross for developmental markers of the Sp/Sp and ct/ct genotypes. Sp/Sp embryos characteristically lack neural crest derivatives, such as dorsal root ganglia, and die on day 13 of gestation. Double mutant embryos from the backcross did not exhibit either of these characteristics suggesting that homozygosity for ct does not cause Sp/+ embryos to develop as if they were of genotype Sp/Sp. The angle of ventral curvature of the posterior neuropore region is enhanced in affected ct/ct embryos whereas it was found to be reduced in Sp/Sp embryos compared with their normal littermates.(ABSTRACT TRUNCATED AT 250 WORDS)


Subject(s)
Mutation/genetics , Nervous System/embryology , Neural Crest/physiology , Neural Tube Defects/genetics , Animals , Breeding , Ganglia, Spinal/embryology , Genotype , Mice , Mice, Mutant Strains
20.
Toxicol In Vitro ; 7(6): 679-84, 1993 Nov.
Article in English | MEDLINE | ID: mdl-20732267

ABSTRACT

The method of whole embryo culture permits a variety of experimental manipulations to be performed on the mammalian embryo. When used in conjunction with mouse mutants, this technique can provide information on the pathogenetic mechanisms underlying the development of birth defects. To illustrate this approach, we review in vitro studies on the development of embryos homozygous for the mutation curly tail (ct). These studies have involved making repeated observations on individual embryos, performing surgical manipulations, applying environmental influences and metabolic labelling. As a result of this work, we have now partially elucidated the developmental sequence of events that precedes the appearance of spina bifida in the ct mutant.

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