Growth Hormone Deficiency in a Case of Crouzon Syndrome with Hydrocephalus

Crouzon syndrome is one of the most common craniofacial syndromes and is inherited as autosomal dominant with variable expression. We report an 11 and a half-year-old boy with Crouzon syndrome with severe growth retardation. He had hydrocephalus since infancy and recently suffered from frequent dizziness. His bone age was only 5 years according to the Greulich and Pyle atlas. Magnetic resonance imaging showed shallow orbits, obstructive hydrocephalus, and cerebellar tonsil herniation. Growth hormone provocative tests revealed a reduced peak growth hormone response in both insulin and clonidine tests. Severe iron deficiency anemia was noted at the same time. Molecular analysis identified a common mutation point of Cys278Phe for Crouzon syndrome in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene. Since growth retardation is not a common feature of Crouzon syndrome, we reviewed the literature for the incidence of hydrocephalus in Crouzon syndrome and the association with growth hormone deficiency

Clonal dissemination of invasive and colonizing clonal complex 1 of serotype VI group B Streptococcus in central Taiwan

Background/PurposeThe aim of this study was to investigate clinical presentation, serotype distribution and genetic correlation of group B streptococcus (GBS) diseases. Since serotype VI prevalence far exceeded that reported in prior studies, genetic relationship of isolates was further analyzed.MethodsGBS isolates obtaining from patients with invasive diseases and pregnant women with colonization between June 2007 and December 2010 were analyzed. All isolates were tested for serotypes by multiplex PCR assay and pulsed-field gel electrophoresis (PFGE). Serotype VI isolates were further analyzed by multilocus sequence typing (MLST).ResultsA total of 134 GBS isolates were recovered from blood of 126 patients with invasive disease (94.0%) and anogenital swabs of 8 pregnant women (6.0%). Most common serotype was Ib (21.6%), followed by V (20.1%), VI (18.7%), III (15.7%), II (11.9 %), Ia (11.2%), and IX (0.7%). Serotype VI was also the leading type in infants with early onset disease (EOD; 3/8, 37.5%) and colonizing pregnant women (3/8, 37.5%). PFGE distinguished 33 pulsotypes, reflecting genetic diversity among GBS isolates. Among 25 serotype VI isolates tested, 14 were ST-1, seven were ST-679, three were ST-678, one was ST-681, and distributed into four PFGE pulsotypes. ST-678, ST-679, and ST-681 were novel sequence types; ST-678 and ST-679 are single-locus variants of ST-1 that belongs to clonal complex (CC) 1.ConclusionCC1 dissemination of serotype VI GBS thus emerges as an important invasive pathogen in infants and nonpregnant adults in central Taiwan. Serotype prevalence of GBS must be continuously monitored geographically to guide prevention strategy of GBS vaccines

Stress, Symptom, Symptom Distress, and Symptom Self-Management in Localized Prostate Cancer

Prostate cancer is the most commonly diagnosed cancer and second leading cause of death in American men. Patients with localized prostate cancer may experience unique and multidimensional symptoms that are distressful from treatment and thereafter. This cross-sectional correlational study aimed to investigate the relationships among stress, symptoms, symptom distress, and symptom self-management and identify the effective strategies of symptom self-management in men with localized prostate cancer following prostatectomy or radiation therapy.Eight saliva samples and 3 questionnaires (Perceived Stress Scale, Symptom Indexes, and Strategy and Effectiveness of Symptom Self-Management) were obtained from each participant between 1 and 3 months following their first prostate cancer treatment. The sample consisted of 53 men with localized prostate cancer. Mean salivary cortisol concentrations for the entire sample ranged from 0.3 to 0.08 ug/dL. Cortisol was secreted in a circadian rhythm with heightened activity in the early morning and lowered activity late in the day. The circadian pattern of cortisol secretion was similar in both the prostatectomy and radiation therapy groups, although the values were slightly different. Two areas Under the Curve (AUC) of salivary cortisol were calculated. Three cortisol circadian rhythms were identified, but the majority of the sample had a typical negative consistent circadian rhythm.Patients with localized prostate cancer who underwent radical prostatectomy or radiation therapy had low perceived stress. Perceived stress was positively correlated with AUCg, noon salivary cortisol concentrations, and afternoon salivary cortisol concentrations. Subjects reported a moderate degree of symptoms and symptom distress on urinary, bowel, and sexual dysfunction 1-3 months following treatments. The most effective strategies of urinary symptom management were pad and kegel exercise; the most effective strategy of bowel symptom management was rest or endure; the most effective strategies of sexual dysfunction management included express their feelings or find alternative ways to express their affection. The symptom self-management strategies were significantly and positively correlated with symptom self-management effectiveness.Symptom distress and AUCg were significant and strong predictors of symptom self-management. Findings can help health care providers develop effective strategies for symptom self-management that enhance health related quality of life among men with localized prostate cancer

Integrated mitochondrial function and cancer-related fatigue in men with prostate cancer undergoing radiation therapy

Introduction: Fatigue experienced by cancer patients is one of the most common symptoms with the greatest adverse effect on quality of life, but arguably the least understood. The purpose of this study was to explore changes in integrated mitochondrial function and fatigue in non-metastatic prostate cancer patients receiving localized radiation therapy (XRT). Materials and methods: We proposed a mitochondria' bioenergetics mechanism of radiation-induced fatigue linking impaired oxidative phosphorylation (OXPIIOS) through complex III and decreased adenosine triphosphate (ATP) production as consequences of XRT. Integrated mitochondria' function was measured as mitochondria' OXPHOS from patients' peripheral blood mononuclear cells. Fatigue was measured using the revised Piper Fatigue Scale. Data were collected before (day 0) and at day 21 of XRT. Results: At day 21 of XRT, fatigue symptom intensified in 15 prostate cancer patients (P<0.05). Mitochondrial OXPHOS complex III-linked and uncoupled complex III rates were significantly decreased in mononuclear cells at day 21 during XRT compared to that before XRT (P<0.05). Additionally, increased fatigue appeared to be associated with decreased OXPHOS complex Ill-linked respiration in patients undergoing XRT. Conclusion: Fatigue was associated with OXPHOS complex III-linked oxidation and a defect in oxidation starting at complex III in mononuclear cell mitochondria was revealed at day 21 of XRT in 15 prostate cancer patients. Complex III is a potential target for pharmacological and, in particular, nutraceutical interventions, eg, Q10, for design of interventions for CRF.National Institute of Nursing Research, National Institutes of Health [K01 NR015246]; Oncology Nursing Society Foundation, Pittsburg, PA [RES125833]; Center for Mitochondrial Disease, Case Western Reserve UniversityOpen access journalThis item from the UA Faculty Publications collection is made available by the University of Arizona with support from the University of Arizona Libraries. If you have questions, please contact us at [email protected]

Symptoms predicting health-related quality of life in prostate cancer patients treated with localized radiation therapy

Objective: Patient-reported health-related quality-of-life (HRQOL) measures can provide guidance for treatment decision making, symptom management, and discharge planning. HRQOL is often influenced by the distress experienced by patients from disease or treatment-related symptoms. This study aimed to identify symptoms that can predict changes in HRQOL in men undergoing external beam radiation therapy (EBRT) for nonmetastatic prostate cancer (NMPC). Methods: Fifty-one men with NMPC scheduled for EBRT were assessed at the baseline, at the midpoint of EBRT, and at the end of EBRT. All participants received 38–42 daily doses of EBRT (five times a week), depending on the stage of their disease. Validated questionnaires were administered to evaluate depressive symptoms, urinary and sexual functions, bowel issues, symptom-related distress, fatigue, and HRQOL. Pearson correlations, repeated-measures ANOVA, and multiple regressions examined the relationships among variables. Results: Intensification of symptoms and increased symptom-related distress, with a corresponding decline in HRQOL, were observed during EBRT in men with NMPC. Changes in symptoms and symptom distress were associated with changes in HRQOL at the midpoint of EBRT (r=–0.37 to –0.6, P=0.05) and at the end of EBRT (r=–0.3 to –0.47, P=0.01) compared with the baseline. The regression model comprising age, body mass index, Gleason score, T category, androgen-deprivation therapy use, radiation dose received, symptoms (urinary/sexual/bowel problems, fatigue), and overall symptom distress explained 70% of the variance in predicting HRQOL. Urinary problems and fatigue significantly predicted the decline in HRQOL during EBRT. Conclusion: Identifying specific symptoms that can influence HRQOL during EBRT for NMPC can provide feasible interventional targets to improve treatment outcomes

Artificial Neural Network for Photonic Crystal Band Structure Prediction in Different Geometric Parameters and Refractive Indexes

In this study, an artificial neural network that can predict the band structure of 2-D photonic crystals is developed. Three kinds of photonic crystals in a square lattice, triangular lattice, and honeycomb lattice and two kinds of materials with different refractive indices are investigated. Using the length of the wave vectors in the reduced Brillouin zone, band number, r/a ratio, and the refractive indices as the dataset, the desired ANN is trained to predict the eigenfrequencies of the photonic modes and depict the photonic band structures with a correlation coefficient greater than 0.99. By increasing the number of neurons in the hidden layer, the correlation coefficient can be further increased over 0.999

Novel SOX9 Gene Mutation in Campomelic Dysplasia with Autosomal Sex Reversal

Campomelic dysplasia (CD; OMIM #114290) is an autosomal dominant, frequently lethal dysplasia syndrome whose primary features include angular bowing and shortening of the limbs, and sex reversal in the majority of affected XY individuals. Most CD cases have heterozygous de novo mutations in the coding region of the transcription factor gene SOX9 (SRY-related high-mobility group [HMG] box 9) in chromosome 17q. Here, we report a novel mutation of SOX9 in a female neonate with CD with autosomal sex reversal. Respiratory distress and cyanosis were noted at birth, and endotracheal intubation with mechanical ventilation was performed due to respiratory failure. The presenting phenotypes included dysmorphic face with macrocephaly prominent forehead, low nasal bridge, cleft palate and micrognathia. Skeletal deformities characteristic of CD were observed, including narrow thoracic cage, hypoplastic scapulae, scoliosis and short limbs with anterolateral femoral and tibial bowing. The karyotype was 46,XY despite female external genitalia. SOX9 gene analysis revealed frameshift mutation (at nucleotide position 1095G →AT) in the open reading frame, resulting in a frameshift with 211 new amino acids