PTPN11 Mutations in LEOPARD Syndrome: Report of Four Cases in Taiwan

Background/PurposeLEOPARD syndrome (LS) is a rare, autosomal dominant disorder. The typical clinical presentation includes multiple lentigines and cardiac defects. Mutation analysis of the PTPN11 gene is feasible. We report four cases of LS, which were confirmed by molecular genetic study.MethodsThe clinical features and mutations of the four patients were summarized.ResultsThe diagnosis of all four patients was made when lentigines appeared during childhood. Three cases had hypertrophic cardiomyopathy. No electrocardiographic conduction abnormality was noted in any of the cases. Three patients had hypertelorism and three had short stature. Two patients, identical twins, presented with the atypical phenotype of tongue protrusion and hepatosplenomegaly at birth. Twin B had mild mental retardation. Case 4 had moderate hearing impairment. Point mutation of the PTPN11 gene was found in all patients.ConclusionLS has typical skin manifestations. All patients should undergo a comprehensive examination, especially echocardiography and electrocardiography. The diagnosis can be confirmed by genetic study

Search for eccentric black hole coalescences during the third observing run of LIGO and Virgo

Despite the growing number of confident binary black hole coalescences observed through gravitational waves so far, the astrophysical origin of these binaries remains uncertain. Orbital eccentricity is one of the clearest tracers of binary formation channels. Identifying binary eccentricity, however, remains challenging due to the limited availability of gravitational waveforms that include effects of eccentricity. Here, we present observational results for a waveform-independent search sensitive to eccentric black hole coalescences, covering the third observing run (O3) of the LIGO and Virgo detectors. We identified no new high-significance candidates beyond those that were already identified with searches focusing on quasi-circular binaries. We determine the sensitivity of our search to high-mass (total mass M>70 M⊙) binaries covering eccentricities up to 0.3 at 15 Hz orbital frequency, and use this to compare model predictions to search results. Assuming all detections are indeed quasi-circular, for our fiducial population model, we place an upper limit for the merger rate density of high-mass binaries with eccentricities 0<e≤0.3 at 0.33 Gpc−3 yr−1 at 90\% confidence level

Ultralight vector dark matter search using data from the KAGRA O3GK run

Among the various candidates for dark matter (DM), ultralight vector DM can be probed by laser interferometric gravitational wave detectors through the measurement of oscillating length changes in the arm cavities. In this context, KAGRA has a unique feature due to differing compositions of its mirrors, enhancing the signal of vector DM in the length change in the auxiliary channels. Here we present the result of a search for U(1)B−L gauge boson DM using the KAGRA data from auxiliary length channels during the first joint observation run together with GEO600. By applying our search pipeline, which takes into account the stochastic nature of ultralight DM, upper bounds on the coupling strength between the U(1)B−L gauge boson and ordinary matter are obtained for a range of DM masses. While our constraints are less stringent than those derived from previous experiments, this study demonstrates the applicability of our method to the lower-mass vector DM search, which is made difficult in this measurement by the short observation time compared to the auto-correlation time scale of DM

Parental mental health and child development from six to thirty-six months in a birth cohort study in Taiwan

This study investigated the reciprocity between parental mental health and the different stages of child development at 6, 18, and 36 months. As the pilot of a birth cohort study, this study comprised 2048 children and their parents who were randomly selected and invited to participate. The development of these children and the mental health of their parents were followed at 6, 18, and 36 months postpartum. Child development was assessed using the Taiwan Birth Cohort Study instrument, and parental health was assessed using the Taiwanese version of the 36-Item Short Form Health Survey. Complete responses for all three stages were received from 844 families. Our results showed that parental mental health had a direct effect on language and social development; however, this effect did not become significant until 36 months. The reciprocity between child development and parental mental health and proper intervention are vital.Peer Reviewe

Hypophosphatasia in Taiwan: Report of Two Cases

Hypophosphatasia is a rare inherited metabolic disease characterized by rickets with reduced plasma and tissue alkaline phosphatase activity. It may be present in infancy, childhood, or adulthood. Various clinical manifestations reflect different forms of alkaline phosphatase gene expression. In this report, we present two cases of hypophosphatasia, one of the infantile and the other of the adult form. The infantile case presented with failure to thrive, hypotonia, and radiologic rickets at 4 months old. The adult case had repeated fractures and marked loss of bone density demonstrated by radiographs. Both cases showed extremely low levels of alkaline phosphatase. To the best of our knowledge, they are the first reported patients with hypophosphatasia from the Taiwanese population

Early Adiposity Rebound and Obesity in Children with Congenital Hypothyroidism

Earlier adiposity rebound (AR) is correlated with obesity. Our goal is to examine rates of obesity and AR in congenital hypothyroidism (CHT) and analyze the risk factors of obesity. Methods: We retrospectively reviewed the cases with abnormal newborn screens of thyroid-stimulating hormone (TSH) from 1990 to 2005 and enrolled permanent CHT patients who continued to receive treatment after the 3rd year of life. We determined subgroups of obesity/being overweight and normal body mass index (BMI) by the latest BMI at 6–7 years of age. BMI at each age and the age of AR were compared with the general population in Taiwan. The statistical correlation of obesity with the age and BMI at both AR and first peak, and thyroid function was calculated. Results: A total of 90 cases of CHT were enrolled. The prevalence of obesity/being overweight was 32.2%. The age of AR was 4.94 ± 1.81 and 4.58 ± 1.86 years old in boys and girls, respectively. The age of AR in the girls with CHT was earlier than in girls in general, but no statistical significance was found in boys with CHT compared to the general population. Obesity was correlated with earlier age of AR, higher BMI at first peak and AR, and lower T4 after treatment, but not with the age of first peak of BMI, T4/TSH at diagnosis and AR, and TSH after treatment. Conclusion: Children with CHT have a higher risk of obesity due to earlier age of AR. We recommend that supervision and intervention on weight control should be provided to prevent the occurrence of obesity later