Clinical and molecular features of idiopathic hypogonadotropic hypogonadism in Taiwan: A single center experience.

BACKGROUND: Idiopathic (isolated) hypogonadotropic hypogonadism (IHH) is a rare disease that can be classified as Kallmann syndrome (KS) or normosmic IHH (nIHH). This study investigated the phenotype and genotype of IHH in Taiwanese patients. METHODS: Twenty-six unrelated IHH patients were included in this study and their clinical, hormonal, and radiological findings were analyzed retrospectively. Whole exome sequencing (WES) was performed to identify the etiology. RESULTS: The 26 patients (M:F = 19:7) were divided into a KS group (n = 11) and a nIHH group (n = 15). The diagnosis was earlier in boys than in girls. Fifteen patients were found to have pathogenic/likely pathogenic (P/LP) variants of IHH-associated genes, and the mutation detection rate was 58%. CHD7, FGFR1, and ANOS1 were the most common genetic etiologies identified in this group. Two patients with nIHH were found to have de novo SOX11 mutations and Coffin-Siris syndrome features. After treatment, the height outcomes and secondary sexual characteristics were significantly improved. There were no obvious differences between the genetically resolved (GR), variants of uncertain significance (VUS) and genetically unresolved groups (GUR). CONCLUSION: Whole exome sequencing is useful in patients with IHH, and we identified the SOX11 gene as a causal factor in this study. We described the clinical, hormonal, and molecular characteristics, and the treatment outcomes, of Taiwanese patients with IHH, which should aid therapeutic planning and further research.

Syntheses, structural modulation, and slow magnetic relaxation of three dysprosium(III) complexes with mononuclear, dinuclear, and one-dimensional structures.

Three mononuclear, dinuclear and one-dimensional dysprosium(III) complexes based on 3-azotriazolyl-2,6-dihydroxybenzoic acid (H4ATB) of [Dy(H3ATB)3]·3H2O (1), [Dy2(H2ATB)2(H2DHB)2(H2O)4]·2CH3CN·5H2O (2), and [Dy2(H2ATB)2(DCB)(DMF)2(H2O)2]·4DMF (3) were synthesized and structurally characterized by X-ray single crystal diffraction (H3DHB = 2,6-dihydroxybenzoic acid, H2DCB = 1,4-dicarboxybenzene). Complex 1 was used as a precursor to synthesize complexes 2 and 3, and 2 was further used to synthesize 3. Complex 1 is a mononuclear complex, in which the Dy(III) ion is in a nine-coordinated structure surrounded by three tridentate chelate H3ATB- ligands. Complex 2 displays a dinuclear structure bridged by two µ2 carboxyl groups of two H2DHB- ligands and two µ1,1-O atoms from the phenolic hydroxyl groups of two H2ATB2- ligands. Complex 3 shows a one-dimensional structure formed by two bridging DCB2- ligands. The magnetic measurements were performed on three complexes 1-3, and they showed different magnetic behavior. Complex 1 shows a field-induced slow magnetic relaxation. Complexes 2 and 3 display distinct slow magnetic relaxation under zero dc field with energy barriers (Ueff) of 26(2) cm-1 and 11(1) cm-1, respectively. The magnetic behavior of three complexes 1-3 was investigated by ab initio calculations.

High temperature anionic Fe(III) spin crossover behavior in a mixed-valence Fe(II)/Fe(III) complex.

Two ion-pair Fe(iii) complexes (PPh4)[FeIII(HATD)2]·2H2O (1, H3ATD = azotetrazolyl-2,7-dihydroxynaphthalene) and [FeII(phen)3][FeIII(HATD)2]2·3DMA·3.5H2O (2, phen = 1,10-phenanthroline, DMA = N,N-dimethylformamide) were synthesized by employing the tridentate ligand H3ATD. Crystal structure analyses reveal that complexes 1 and 2 consist of FeIII ions in an octahedral environment where a FeIII ion is coordinated by two HATD2- ligands forming the [FeIII(HATD)2]- core. The shortest cationanion distance between the phosphorus ion of the (PPh4)+ cation and the ferric ion of the [FeIII(HATD)2]- anion is 13.190 Å in complex 1, whereas that between the ferrous ion of the [FeII(Phen)3]2+ cation and the ferric ion of the [FeIII(HATD)2]- anion is 7.821 Å in complex 2. C-HC and C-HO hydrogen interactions between the [FeII(phen)3]2+ cation and the [FeIII(HATD)2]- anion are observed in 2. Face-to-face π-π stacking interactions between naphthalene rings with the separated interplanar center to center distances of 3.421-3.680 Å were observed, which result in a one-dimensional supramolecular chain in complexes 1 and 2. Magnetic measurements show that complex 1 is in the low-spin (LS) state below 500 K, whereas 2 undergoes a high temperature spin crossover (SCO) between 360 and 500 K. Magneto-structural relationship studies reveal that π-stacking, hydrogen interactions and Coulomb interactions between the [FeIII(HATD)2]- anion and the [FeII(phen)3]2+ cation play a crucial role in the high temperature Fe(iii) SCO behaviour of complex 2.

Exceptional temperature-dependent coordination sites from acylamide groups.

Herein, through altering the reaction temperature, the coordination mode of the acylamide ligand is well controlled with or without the oxygen coordination site. The resulting two new coordination polymers have the formulas Cd3(L)2(bdc)3·4(H2O) (1) and Cd(L)(bdc)·2(H2O) (2) (L = N(1),N(4)-bis(pyridin-3-ylmethyl)terephthalamide, H2bdc = terephthalic acid).

[Improving comprehensiveness of information given to pediatric cardiac surgery patients prior to surgery].

BACKGROUND: Cardiac surgery for critical pediatric patients places significant demands on hospital equipment and facilities. Parents of these patients are often under enormous stress due to insufficient knowledge regarding cardiac surgery and postoperative care procedures. This project used appropriate preoperative consultation given by nursing staffs to decrease stress and anxiety in parents of pediatric cardiac surgery patients. PURPOSE: This project worked to enhance the completion rate of preoperative instructions for pediatric cardiac surgery patients and ensure their parents received comprehensive information and knowledge. RESOLUTION: The authors developed a standardized procedure for patient instruction and evaluation. Participants received instructions in the forms of a video presentation and printed handouts. Also, an educational training program was held and the implementation of preoperative patient instructions was made a routine task during nursing handover to enhance the completion rate. RESULTS: The completion rate of patient preoperative instructions to pediatric cardiac surgery rose from 78% to 98%; The cognitive degree of participating parents rose from 52% to 96%. CONCLUSIONS: This intervention effectively increased the completion rate of preoperative instructions for pediatric patients scheduled for cardiac surgery and improved clinical pediatric nursing care practicability and efficiency.

Quantitative assessment of image quality in 64-slice-computed tomography of coronary arteries in subjects undergoing screening for coronary artery disease.

Accurate and consistent visualization of the entire coronary system with high-grade imaging quality is crucial for routine applications of multi-detector-computed tomography (MDCT) coronary angiography. To determine the imaging quality of 64-slice-MDCT coronary angiography, we respectively explored the quantitative parameters of imaging quality in 105 consecutive subjects (71 men, 34 women; aged 58.66 +/- 10.62 years) who underwent 64-slice-MDCT coronary angiography to screen for coronary disease. The interobserver agreement for semi-quantitative image quality, visible length, signal-to-noise ratio (SNR) and contrast-to-noise ratio (CNR) of the coronary arteries was good. The SNR and CNR of the proximal segments of the coronary arteries were superior to that of the distal segments of coronary arteries (p < 0.001). The visible length of the stenosed right coronary artery was significantly shorter than that of the non-stenosed right coronary artery (p = 0.03). The SNR and CNR of the stenosed and non-stenosed coronary arteries revealed no significant difference (p > 0.05). Body weight and body mass index were inversely related to the SNR and CNR of the aorta (p < 0.001). In conclusion, 64-slice-MDCT coronary angiography can provide excellent imaging quality of coronary arteries in subjects undergoing screening for coronary disease, although the SNR and CNR were relatively low at the distal segments of coronary arteries.

[A project to reduce rejection of newborn screening blood specimens for congenital metabolic diseases].

Defective blood specimens used to screen congenital metabolic diseases in newborns cause specimens to be rejected and necessitate that a heel stick be performed again. Such results in delayed diagnoses and family complaints. The purpose of this project was to reduce the incidence of blood specimen rejection. The project was carried out from March 1, 2006 to February 28, 2007. Project team members identified the causes of specimen problems using onsite observation, document review and quizzes on specimen collection knowledge. Three causes were found, including incorrect blood collection procedures, lack of pre-job training and continuing education, and disorganized blood collection work station. Five strategies were proposed to reduce the rejection of blood specimens: (1) establish standard operating procedures for blood specimen collection done to screen for congenital metabolic diseases; (2) design blood specimen collection training courses; (3) make a list of common errors encountered in blood specimen collection; (4) designate a specific person to organize the work station and (5) maintain an accurate monthly record of specimens rejected. After the completion of the project, the objective was achieved. The percentage of the rejected specimens fell from 19.5% to 3.8% per month and nurse scores on specimen collection knowledge increased from 68 to 92. In order to ensure the correctness of blood specimen collection, appropriate pre-job training and periodical on-job training courses for staff are further suggested.