Phosphate bound to calcareous sediments hampers skeletal development of juvenile coral

To test the hypothesis that terrestrial runoff affects the functions of calcareous sediments in coral reefs and hampers the development of corals, we analysed calcareous sediments with different levels of bound phosphate, collected from reef areas of Okinawajima, Japan. We confirmed that phosphate bound to calcareous sediments was readily released into ambient seawater, resulting in much higher concentrations of phosphorous in seawater from heavily polluted areas (4.3–19.0 µM as compared with less than 0.096 µM in natural ambient seawater). Additionally, we examined the effect of phosphate released from calcareous sediments on the development of Acropora digitifera coral juveniles. We found that high phosphate concentrations in seawater clearly inhibit the skeletal formation of coral juveniles. Our results demonstrate that calcareous sediments in reef areas play a crucial role in mediating the impact of terrestrial runoff on corals by storing and releasing phosphate in seawater.

The Developmental Phenotype of the Great Toe in Fibrodysplasia Ossificans Progressiva

Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder in which extensive heterotopic ossification (HO) begins to form during early childhood and progresses throughout life. Although HO does not occur during embryonic development, children who carry the ACVR1R206H mutation that causes most cases of FOP characteristically exhibit malformation of their great toes at birth, indicating that the mutation acts during embryonic development to alter skeletal formation. Despite the high prevalence of the great toe malformation in the FOP population, it has received relatively little attention due to its clinically benign nature. In this study, we examined radiographs from a cohort of 41 FOP patients ranging from 2 months to 48 years of age to provide a detailed analysis of the developmental features, progression, and variability of the great toe malformation of FOP, which include absent skeletal structures, malformed epiphyses, ectopic ossification centers, malformed first metatarsals and phalangeal fusion.

THE THE TERATOGENIC EFFECTS OF ETHANOLIC EXTRACT OF BINTANGUR LEAVES (CALOPHYLLUM SOULATTRI BURM. F) ON FEMALE WHITE RATS

Objectives: Drugs can cause undesired effects on the fetus during pregnancy, especially embryonic/organogenesis which could lead to defects in the fetus because some types of drugs can penetrate the placenta and will undergo biotransformation into a highly reactive compound that has the potential to become a teratogenic compound. The aim of this research was to examine the teratogenic effect of bintangur leaves (Calophyllum soulattri Burm. F) ethanol extract to Sprague Dawley strain white rats. Methods: The white rats are divided into four treatment groups: Control group was given carboxymethyl cellulose Na 1%, comparison group was given trimethoprim 360 mg/kg BW, C. soulattri leaves ethanol extract (CLE) 100 mg/kg BW, and CLE 500 mg/kg BW. The treatment was administrated since organogenesis period. Cesarian section was performed to pregnant rat at the 20th day to separate the fetuses. Observation covered body weight of pregnant rats, fetal biometric, morphological malformation, and skeletal formation. Results: CLE 100 mg/kg BW and 500 mg/kg BW did not cause any change in the number of a living fetus, body weight, and length of fetuses like the comparison group. Both doses of CLE shown have a normal skeletal formation. Resorption was found in the comparison group and CLE 100 mg/kg BW with the percentage was 65.21% and 6.67%. It was found that there is no significant difference (p<0.05) between both doses of CLE compared to control group. Conclusion: From the results, it is concluded that CLE did not have the teratogenic effect.

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

The analysis of individuals with ciliary chondrodysplasias can shed light on sensitive mechanisms controlling ciliogenesis and cell signalling that are essential to embryonic development and survival. Here we identify TCTEX1D2 mutations causing Jeune asphyxiating thoracic dystrophy with partially penetrant inheritance. Loss of TCTEX1D2 impairs retrograde intraflagellar transport (IFT) in humans and the protist Chlamydomonas, accompanied by destabilization of the retrograde IFT dynein motor. We thus define TCTEX1D2 as an integral component of the evolutionarily conserved retrograde IFT machinery. In complex with several IFT dynein light chains, it is required for correct vertebrate skeletal formation but may be functionally redundant under certain conditions.

Bilateral Radial Ulnar Synostosis and Vertebral Anomalies in a Child with aDe Novo16p13.3 Interstitial Deletion

We describe an 8-year-old boy with developmental delay, clinical bilateral radial ulnar synostosis, Klippel-Feil anomaly, and other vertebral deformities who was found to have ade novodeletion of 114.5kb at 16p13.3. The deletion contains five genes and three miRNAs. The genes areE4F1, DNASE1L2, ECI1, RNPS1, andABCA3; miRNAs are MIR3677, MIR940, and MIR4717. The specific deletion has never been previously reported. We describe the phenotype of the boy and review the genes in the deleted region. None of the regulatory elements have any known linkage to skeletal formation and/or maintenance. We believe this deletion is causative given that it wasde novoand that this patient cannot be easily explained as having any other specific recognizable pattern of human malformation.