Goltz Syndrome Combined with Triple X Syndrome, a Case Report.

Goltz syndrome is a rare X-linked dominant multisystem disorder that presents with ectoderm and mesoderm-derived symptoms. Skin manifestations including congenital patchy skin aplasia, congenital nodular fat herniation, congenital hypo- or hyperpigmentation along Blaschko's lines, telangiectasia, and congenital ridged dysplastic nails are typical in this disorder. Almost all cases of Goltz syndrome correspond to female newborns and that hemizygosis makes the syndrome fetal in males. Triple X syndrome is a relatively common congenital disorder that presents with mild to no symptoms in the developmental and psychiatric realm. The patient reported here was born with multisystem anomaly affecting the eyes, craniofacial region, cardiovascular system, skin, and limbs. A G-banding chromosomal study revealed 47, XXX. She was diagnosed with Goltz syndrome owing to her distinctive skin manifestations. The congenital cervical skin defect healed with conservative treatment. The facial cleft, cleft lip-palate, and syndactyly were successfully treated with multiple surgical treatments. The combination of triple X syndrome and Goltz syndrome is very rare. We describe the expression of presenting with both syndromes simultaneously.

Clinical characteristics of adolescent cases with Type A insulin resistance syndrome caused by heterozygous mutations in the ß-subunit of the insulin receptor (INSR) gene.

BACKGROUND: Type A insulin resistance (IR) is a rare form of severe congenital IR that is frequently caused by heterozygous mutations in the insulin receptor (INSR) gene. Although Type A IR requires appropriate intervention from the early stages of diabetes, proper diagnosis of this disease is challenging, and accumulation of cases with detailed clinical profiles and genotypes is required. METHODS: Herein we report on six peripubertal patients with clinically diagnosed Type A IR, including four patients with an identified INSR mutation. To clarify the clinical features of Type A IR due to INSR mutation, we validated the clinical characteristics of Type A IR patients with identified INSR mutations by comparing them with mutation-negative patients. RESULTS: Four heterozygous missense mutations within the ß-subunit of INSR were detected: Gly1146Arg, Arg1158Trp, Arg1201Trp, and one novel Arg1201Pro mutation. There were no obvious differences in clinical phenotypes, except for normal lipid metabolism and autosomal dominant inheritance, between Type A IR due to INSR mutations and Type A IR due to other factors. However, our analysis revealed that the extent of growth retardation during the fetal period is correlated with the severity of insulin signaling impairment. CONCLUSIONS: The present study details the clinical features of four patients with genetically proven Type A IR. Further accumulation of genetically proven cases and long-term treatment prognoses following early diagnosis are required to further elucidate the dynamics of this disease.

Time-resolved two-dimensional profiles of electron density and temperature of laser-produced tin plasmas for extreme-ultraviolet lithography light sources.

Time-resolved two-dimensional (2D) profiles of electron density (n e) and electron temperature (T e) of extreme ultraviolet (EUV) lithography light source plasmas were obtained from the ion components of collective Thomson scattering (CTS) spectra. The highest EUV conversion efficiency (CE) of 4% from double pulse lasers irradiating a Sn droplet was obtained by changing their delay time. The 2D-CTS results clarified that for the highest CE condition, a hollow-like density profile was formed, i.e., the high density region existed not on the central axis but in a part with a certain radius. The 2D profile of the in-band EUV emissivity (ηEUV) was theoretically calculated using the CTS results and atomic model (Hullac code), which reproduced a directly measured EUV image reasonably well. The CTS results strongly indicated the necessity of optimizing 2D plasma profiles to improve the CE in the future.

SOX2 nonsense mutation in a patient clinically diagnosed with non-syndromic hypogonadotropic hypogonadism.

Hypogonadotropic hypogonadism (HH) is a genetically heterogeneous condition that occurs either as an isolated disorder or as a component of congenital malformation syndromes. SOX2 is a causative gene of syndromic HH characterized by anophthalmia, microphthalmia, or coloboma and other neurological defects such as epilepsy. To date, the causal relationship between SOX2 abnormalities and non-syndromic HH remains speculative. Here, we identified a nonsense mutation of SOX2 in a male patient clinically diagnosed with non-syndromic HH. The patient had epilepsy but no additional clinical features. Ophthalmological examination revealed no abnormalities except for decreased thickness of the retinal nerve fiber layer. Audiometry showed mild sensorineural hearing impairment of both ears. Hormonal evaluation suggested isolated gonadotropin deficiency. Next-generation sequencing-based mutation screening of 13 major causative genes for HH identified a p.Lys35∗ mutation in SOX2 and excluded pathogenic mutations in other tested genes. The p.Lys35∗ mutation appeared to encode a non-functioning SOX2 protein that lacks 283 of 317 amino acids. The SOX2 mutation was absent in the maternal DNA sample, while a paternal sample was unavailable for sequence analysis. These results expand the clinical consequences of SOX2 haploinsufficiency to include non-syndromic HH. Systematic mutation screening using a next-generation sequencer and detailed evaluation of nonspecific ocular/neurological features may help identify SOX2 mutation-positive individuals among HH patients.

Suspected panosteitis in a crossbred calf.

A male crossbred calf developed a limp and pain upon deep pressure on the right hind limb and the right forelimb. The radiographic findings of affected limbs and pathological findings of bone biopsy were similar to those observed in canine panosteitis. This is the first case of suspected panosteitis reported in cattle.

Panostéite suspectée chez un veau de race croisée. Un veau mâle de race croisée a développé une boiterie et de la douleur à l'application d'une pression profonde sur la jambe arrière droite et la jambe avant droite. Les résultats de la radiographie des membres touchés et les résultats pathologiques d'une biopsie osseuse étaient semblables à ceux observés dans la panostéite canine. Il s'agit du premier cas de panostéite suspectée chez le bétail.(Traduit par Isabelle Vallières).

Influence of sickness condition on diurnal rhythms of heart rate and heart rate variability in cows.

Parameters of heart rate variability would explain changes in heart rate during the disease status in cows and to evaluate whether such changes might provide a more sensitive and quantitative indicator of these conditions than crude indices. For this purpose, we recorded electrocardiograms for 24 hr using a Holter-type electrocardiograph and applied power spectral analysis of heart rate variability in both five clinically healthy and four hospitalized cows. The significant findings of the current investigation were that the diurnal variations of autonomic nervous function are abolished in cows that are sick. This abnormal rhythm was induced by predominant parasympathetic inhibition in these cows. Therefore, the heart rate variability may be a useful indicator of sickness condition in cows.

An evaluation of the effect of age and the peri-parturient period on bone metabolism in dairy cows as measured by serum bone-specific alkaline phosphatase activity and urinary deoxypyridinoline concentration.

Various biochemical markers help to evaluate the state of bone turnover in humans and could be used during the peri-parturient period in dairy cows when calcium (Ca) metabolism changes dramatically. To investigate this, the peri-partum characteristics of serum bone-specific alkaline phosphatase (BAP) and urinary deoxypyridinoline (DPD) were investigated. Both serum BAP activity and urinary DPD concentrations were increased and demonstrated wide variability in younger animals, and these findings were consistent with other bone turnover markers. Around the time of parturition, serum Ca concentration and serum BAP activity in multiparous cows were significantly lower than in primiparous cows, but urinary DPD concentration was unchanged. The use of BAP as a bone formation marker appears to be valuable for evaluating bone remodelling status in cows, but the specificity of the test needs to be confirmed. The DPD/BAP ratio around parturition demonstrated a clear difference in bone turnover status between the two parity groups with multiparous cows demonstrating increased signs of bone resorption compared with primiparous cows, corresponding to the Ca requirement for milk production. In future studies, the applicability of the ratio of bone resorption marker to bone formation marker should be evaluated for bone turnover assessment.

The Reform of Japan ’ s Long-term Care Insurance Policy and the References / 中国卫生经济

Through the reforming of public long-term care insurance, Japan has solved difficulties on the elderly care and provided positive experiences for the establishment of long-term care in China. The background , history and contents of long-term care insurance system are introduced. The establishment effects of the system are analyzed based on comparative method , reasonable suggestions of establishing long-term care insurance system in China are proposed combined with the national condition.

Changes in circulating adiponectin and metabolic hormone concentrations during periparturient and lactation periods in Holstein dairy cows.

Although our previous report demonstrated that adiponectin and AdipoR1 gene expressions changed among different lactation stages in the bovine mammary gland, its in vivo kinetics remain unclear in ruminant animals. In this study, we investigated the changes in circulating concentrations of adiponectin, as well as other metabolic hormones and metabolites, (i) during the periparturient period and (ii) among different lactation stages, in Holstein dairy cows. In experiment 1, serum adiponectin concentrations increased after parturition. Serum insulin concentrations were lower in the postpartum than prepartum period, whereas serum growth hormone (GH) concentrations increased in the postpartum period. Serum nonesterified fatty acids (NEFA) levels were increased during the postpartum period and were dependent on the parity. In experiment 2, there was no significant difference in plasma adiponectin concentrations among lactational stages. Plasma insulin concentrations tended to be lower in early lactation while plasma GH levels tended to be higher. Plasma NEFA concentrations were significantly lower in mid- and late-lactation stages than non-lactation stages. These findings indicate that elevation of serum adiponectin might be involved in energy metabolism just around parturition, and might exert its action through regulation of receptor expression levels in target tissues in each lactational stage in Holstein dairy cows.

Long-term survival of a cow with cervical ectopia cordis.

This study investigated the long-term survival of a calf with cervical ectopia cordis that grew normally, became pregnant, and calved normally. The cow showed normal cardiac function and absence of peripheral circulation abnormalities. This paper documents antemortem characteristics of the affected cow.

Serum osteocalcin in dairy cows: age-related changes and periparturient variation.

We evaluated age-related changes in serum osteocalcin concentrations in non-periparturient cows and variations in serum osteocalcin concentration in periparturient primiparous and multiparous cows. The serum osteocalcin levels were evaluated in 144 non-periparturient Holstein dairy cows aged 11 days to 10 years; these levels were the highest in the youngest cows, appeared to steadily decrease with age until the time of the first calving, and were subsequently maintained at low levels. Between 14 days before calving and 21 days after calving, the serum osteocalcin levels were significantly higher in the primiparous cows than in the multiparous cows. A comparison between age-matched non-periparturient and periparturient cows showed that serum osteocalcin levels were significantly lowered during late gestation in both primiparous and multiparous cows. These results suggest that serum osteocalcin measurement might be useful for the detection of mineral imbalances at the time of parturition in cows.

Estrus synchronization with pseudopregnant gilts induced by a single treatment of estradiol dipropionate.

The aims of this study were to determine whether a single treatment of estradiol dipropionate (EDP) could induce pseudopregnancy in gilts and to determine the effectiveness of PGF(2alpha) treatment on estrus synchronization in EDP-induced pseudopregnant gilts. In experiment 1, gilts were treated with 20 mg of EDP (n=11) or vehicle (n=5) on Day 12 (Day 0=onset of estrus). Establishment of pseudopregnancy was defined as a lack of estrus and maintenance of the plasma progesterone concentration above 1 ng/ml between Days 12 and 36. Nine of 11 gilts (82%) treated with EDP became pseudopregnant. The plasma estradiol-17beta level was significantly higher in the EDP-treated gilts than in the control gilts until Day 29. In experiment 2, PGF(2alpha) was administered twice with a 24-h interval from Day 36 in pseudopregnant gilts (n=6) or Day 10 in cyclic gilts (control; n=5). Estrus after PGF(2alpha) treatment was observed in 83% of the pseudopregnant gilts. The interval from the day of the first PGF(2alpha) treatment to the onset of estrus and the peak of the LH surge was significantly shorter in the pseudopregnant gilts than in the control gilts. In experiment 3, six pseudopregnant gilts were bred by artificial insemination at the estrus after PGF(2alpha) treatment. The farrowing rate and average litter size did not differ between the PGF(2alpha)-treated pseudopregnant and cyclic gilts. These results indicate that a single treatment of EDP on Day 12 of the estrous cycle can induce pseudopregnancy in pigs and that a convenient protocol for administering PGF(2alpha) to EDP-induced pseudopregnant pigs is available for estrus synchronization programs in cyclic pigs.

Peripheral concentrations of inhibin A, ovarian steroids, and gonadotropins associated with follicular development throughout the estrous cycle of the sow.

We investigated changes in peripheral concentrations of inhibin A, total inhibin, steroids, and gonadotropins throughout the intact estrous cycle of the sow in relation to ovarian changes determined by daily transrectal ultrasonography. All visible follicles of 3 mm or more in diameter were classified as small (> or =3 and <6 mm) or large (> or =6 mm). Follicular recruitment was identified in two periods of the cycle: one from the late luteal to the follicular phase, characterized by an increase in the number of small follicles followed by the appearance of large follicles; and another during the early luteal phase, consisting only of increased numbers of small follicles. Plasma concentrations of inhibin A increased (P<0.05), coinciding with the two periods of follicle emergence. Estradiol (E(2)) levels increased (P<0.05) during the follicular phase, but not during the early luteal phase. An inverse relationship (P<0.01) between the patterns of inhibin and FSH concentrations was noted around the two periods of follicle emergence, but there was no relationship (P> or =0.1) between the patterns of plasma E(2) and FSH during the early luteal phase. In conclusion, measurement of plasma inhibin A levels combined with ultrasonographic examination of the ovaries revealed two periods of synchronous follicular growth during the sow's estrous cycle. The results strongly suggest that inhibin A functions as a negative feedback regulator of FSH secretion throughout the estrous cycle, whereas E(2) appears to influence FSH secretion only during the follicular phase.

Measurement of porcine luteinizing hormone concentration in blood by time-resolved fluoroimmunoassay.

We validated a time-resolved fluoroimmunoassay (TR-FIA) using the lanthanide element europium as a non-radiological tracer for measuring luteinizing hormone (LH) in porcine peripheral blood. The dose-response curve of the reference standard ranged from 0.2048 to 50 ng/ml. Good parallelism was noted between the LH standard and plasma sample. The profile of LH throughout the estrous cycle, assessed by daily blood sampling, was consistent with the previous findings obtained by radioimmunoassays (RIAs). Moreover, the secretory patterns of pulsatile LH in the follicular phase and the preovulatory LH surge were also similar to those obtained in previous RIAs. We conclude that TR-FIA can be used to measure LH levels in porcine blood, with practical and convenient applications.

Parathyroid hormone-related protein (PTHrP) and Ca levels in the milk of lactating cows.

To investigate the roles of mammary PTHrP in calcium uptake and/or release in the mammary gland of cows, plasma PTHrP and Ca levels, and their arterial-venous differences were examined in a Jersey cow during the periparturient period. Levels of Ca in both abdominal aorta and abdominal subcutaneous vein blood slightly decreased around the parturition and at 24 days after the parturition, however, no remarkable arterial-venous differences were observed. Plasma PTHrP levels in both arterial and venous samples were below the detection limit (0.57 pmol/l) during the experimental period. Milk PTHrP and Ca levels were measured in 9 Holstein dairy cows. Although plasma PTHrP levels in all arterial and venous samples were also below the detection limit, milk PTHrP and Ca levels were remarkably high, ranging from 14,900 pmol/l to 41,200 pmol/l and from 772 mg/l to 1,200 mg/l, respectively. In addition, a significant positive correlation (P<0.01) was observed between milk PTHrP and Ca levels. These results suggested that mammary PTHrP is closely related to Ca concentration in the milk.

Expression of bovine parathyroid hormone/parathyroid hormone- related protein (PTH/PTHrP) receptor mRNA in the mammary gland of cows.

To examine the PTH/PTHrP receptor in the mammary gland, molecular cloning of bovine PTH/PTHrP receptor and measurement of its mRNA expression were carried out in cows during the periparturient period. The PTH/PTHrP receptor gene was partially cloned, and expression of bovine PTH/PTHrP receptor mRNA was detected in various tissues of the cow. In the mammary gland, PTH/PTHrP receptor mRNA expression was constantly low during the periparturient period, whereas PTHrP mRNA expression dramatically increased after parturition. This suggested that expression of PTH/PTHrP receptor mRNA in the mammary gland is not affected by lactation in cows.

Cerebral infarction after high-dose intravenous immunoglobulin therapy for Kawasaki disease.

A 3-year-old boy with Kawasaki disease developed a cerebral infarction after high-dose intravenous immunoglobulin. Aspirin did not prevent the stroke. Based on the numerous reports of thrombosis due to high-dose immunoglobulin in older individuals, we conclude that it is necessary to be aware of this complication when treating children with Kawasaki disease.

Expression of parathyroid hormone-related protein (PTHrP) mRNA in mammary gland of periparturient cows.

The expression of parathyroid hormone-related protein (PTHrP) mRNA was examined in mammary gland with or without lactation, and during periparturient period in a Holstein cow and a Jersey cow. In the lactating mammary gland, PTHrP was detected in alveolar epithelial cells and the lumen by immunohistochemical analysis. The relative expression levels of PTHrP mRNA in mammary gland from lactating cows were significantly higher than those from non-lactating cows (P<0.05). During periparturient period, relative PTHrP mRNA level was remarkably low before the parturition in a Jersey and a Holstein cow, however, both levels were gradually increased and reached a peak level at 5-6 weeks after the parturition. In addition, the peak level in a Jersey cow was approximately 3-fold higher than that in a Holstein cow. From these results, PTHrP was synthesized and secreted in alveolar epithelial cells in mammary gland and increased subsequently with the lactation, suggesting a possible mechanism for the regulation of local calcium homeostasis.