bluuebunny/crossref_metadata_2025_split huggingface dataset:
Relationship between phenotype and genotype in growth hormone insensitivity syndrome
Authors: Woods KA , Clark AJL , Amselem S , Savage MO 
Published: April 2008

Woods KA, Clark AJL, Amselem S, Savage MO. Relationship between phenotype and genotype in growth hormone insensitivity syndrome. Acta Pædiatr 1999; Suppl 428: 158–62. Stockholm. ISSN 0803–5326Growth hormone insensitivity syndrome (GHIS) of genetic origin is associated with many different mutations of the growth hormone receptor (GHR) gene and a recently described genetic defect of the insulin‐like growth factor I (IGF‐I) gene. Phenotypic and biochemical features were examined in a cohort of 82 patients with GHIS from 23 countries. The mean age of these patients was 8.3 years, their mean height SDS was ‐6.09 and their median IGF‐binding protein‐3 (IGFBP‐3) SDS was ‐8.5. In total, 19 of the 82 patients (23%) were growth hormone‐binding protein (GHBP)‐positive (> 10%). The mean heights in GHBP‐negative and GHBP‐positive patients were ‐6.45 SDS and ‐4.89 SDS, respectively (p < 0.001). Sixteen different GHR gene mutations were identified in 27 patients with GHIS. All of these patients had homozygous mutations, except one who had a compound heterozygous mutation. There was no relationship between the type or site within the GHR gene of the mutation and the height SDS or IGFBP‐3 SDS of the patients. GHIS is associated with a wide variation in the severity of clinical and biochemical phenotypes. This variation cannot clearly be accounted for by defects in the GHR gene alone. Other genes or environmental factors must contribute to the control of growth in patients with GHIS. □Growth hormone, growth hormone insensitivity, growth hormone receptor gene
Truncated growth hormone receptor isoforms
Authors: Ross RJM 
Published: April 2008

Ross RJM. Truncated growth hormone receptor isoforms. Acta Pædiatr 1999; Suppl 428: 164–6. Stockholm. ISSN 0803–5326Truncated forms of the growth hormone receptor (GHR) that lack the majority of the cytoplasmic domain have been identified in a number of human tissues. In vitro, these truncated receptors act as dominant‐negative inhibitors of the growth hormone (GH) signal and also generate large amounts of growth hormone binding protein (GHBP). Mutations that lead to high levels of expression of the truncated GHR are associated with short stature and GH insensitivity. Thus, truncated GHRs may be important as a physiological regulator of GH signalling in addition to providing a mechanism for the production of GHBR □Cirrhosis, growth hormone, growth hormone insensitivity, growth hormone receptor, growth hormone resistance, truncated growth hormone receptor
Serum levels of insulin‐like growth factor binding proteins in Ecuadorean children with growth hormone insensitivity
Authors: Burren CP , Wanek D , Mohan S , Cohen P , Guevara‐Aguirre J , Rosenfeld RG 
Published: April 2008

Burren CP, Wanek D, Mohan S, Cohen P, Guevara‐Aguirre J, Rosenfeld RG. Serum levels of insulin‐like growth factor binding proteins in Ecuadorean children with growth hormone insensitivity. Acta Pædiatr 1999; Suppl 428: 185–91. Stockholm. ISSN 0803–5326Although insulin‐like growth factor binding proteins (IGFBPs) are known to be important modulators of the action of insulin‐like growth factors (IGFs), regulation of their production in vivo is not completely understood. Serum concentrations of IGFBP‐3, ‐4 and ‐5 and acid‐labile subunit (ALS) were therefore examined in 20 children with growth hormone (GH) insensitivity before and after 6 months of therapy with recombinant human IGF‐I (80 or 120 ug/kg twice daily). The IGFBP concentrations in these children were compared with those in 62 GH‐deficient children receiving GH therapy for 3 months. Serum levels of IGFBP‐3, ‐4 and ‐5 and ALS all increased significantly (p < 0.0001) in GH‐deficient children in response to GH therapy, whereas no significant increases occurred in the children with GH insensitivity. These findings indicate that GH is responsible for the regulation of serum levels of IGFBP‐3, ‐4 and ‐5 and ALS, and that IGF‐I does not directly regulate the concentrations of these circulating IGFBPs. □Growth hormone, growth hormone insensitivity, insulin‐like growth factor I, insulin‐like growth factor binding protein
Partial growth hormone insensitivity ‐ idiopathic short stature is not always idiopathic
Authors: Saenger P 
Published: April 2008

Saenger P. Partial growth hormone insensitivity ‐ idiopathic short stature is not always idiopathic. Acta Pædiatr 1999; Suppl 428: 194–8. Stockholm. ISSN 0803–5326Heterozygous growth hormone receptor (GHR) gene defects are not a common cause of idiopathic short stature. Although some of these GHR mutations may result in relative insensitivity to growth hormone (GH) in other studies, obligate heterozygotes did not present any clinical manifestations. Although patients with GH insensitivity and elevated GH binding protein (GHBP) levels have been described, it may be a reasonable approach to screen children who have growth failure, low levels of insulin‐like growth factor‐I (IGF‐I) and IGF‐binding protein‐3, and low levels of GHBP. Whether the sensitivity of this screening approach can be increased by administering pharmacological doses of GH for a few days and measuring the resultant increase in serum IGF‐I concentration remains to be determined by ongoing studies. □Growth hormone insensitivity, growth hormone receptor, short stature
Recurrent abdominal pain due to buckshots in the appendix
Authors: Zampieri Nicola , Zuin Veronica , Ottolenghi Alberto , Camoglio Francesco Saverio 
Published: April 2008

AbstractIngestion of foreign bodies is a common paediatric problem, with more than 100 000 cases occurring each year. The majority of these objects are radiopaque. This paper reports a case of elective appendectomy in a patient with unknown ingestion of buckshots affected by recurrent abdominal pain. Plain abdominal films and ultrasound scans showed that the foreign bodies were located in the right lower abdominal quadrant, more specifically in the appendix.Conclusion: Foreign bodies in the appendiceal lumen may cause inflammation, perforation and peritonitis. Surgery seems to be the only effective therapeutic approach to foreign bodies in the appendix.
Enhanced Tree Recruitment Following Logging in Two Forest Reserves in Ghana
Authors: Swaine Michael D. , Agyeman Victor K. 
Published: April 2008

ABSTRACTWe tested if logging enhances the recruitment of tree species by comparing young tree density in areas disturbed by logging with areas unaffected by logging 6 mo after logging in two Forest Reserves in Ghana. Analysis of 46 commercial timber species showed significantly higher postlogging recruitment in felling gaps and skid trails than in areas unaffected by logging. New seedlings substantially exceeded those lost due to logging operations. Species richness was significantly greater in areas disturbed by logging.
Tap water quality and performance of point‐of‐use treatment devices in Cairo, Egypt
Authors: Smith Edward , El Komos Sally 
Published: April 2008

AbstractTap water quality was examined in six sampling events over a 2‐year period in a residential community of Greater Cairo, Egypt. The sampling sites chosen had a granular activated carbon (GAC), reverse osmosis (RO) or distillation point‐of‐use (POU) treatment device so that the performance of these units for standard water quality parameters could be evaluated. Tap water satisfied Egyptian and international drinking water standards and guidelines for the majority of samples analysed. Exceptions were the violation of international limits for lead in 10 samples, and total trihalomethane (TTHM) levels that occasionally exceeded drinking water limits. Only the RO and distillation units achieved removal of total dissolved solids (TDS), alkalinity and hardness. However, GAC units are considerably less costly in the local market. All three POU units exhibited potential reduction of chemical contaminants such as trihalomethanes (THMs), improved taste via chlorine removal and improvement in clarity. Realization of these benefits, however, is conditioned upon proper operation and maintenance of the device.
Impact of changing diet regimes on Steller sea lion body condition
Authors: Atkinson Shannon , Calkins Donald , Burkanov Vladimir , Castellini Michael , Hennen Daniel , Inglis Susan 
Published: April 2008

AbstractA leading theory for the cause of the decline of Steller sea lions is nutritional stress, which led to chronic high juvenile mortality and possibly episodic adult mortality. Nutritional stress may have resulted from either poor quality or low abundance of prey. The objective of this study was to determine whether we could predict shifts in body condition (i.e., body mass or body fat content) over different seasons associated with a change in diet (i.e., toward lower quality prey). Captive Steller sea lions (n= 3) were fed three different diet regimes, where Diet 1 approximated the diet in the Kodiak area in the 1970s prior to the documented decline in that area, Diet 2 approximated the species composition in the Kodiak area after the decline had begun, and Diet 3 approximated the diet in southeast Alaska where the Steller sea lion population has been increasing for over 25 yr. All the animals used in this study were still growing and gained mass regardless of diet. Body fat (%) varied between 13% and 28%, but was not consistently high or low for any diet regime or season. Mean intake (in kg) of Diet 2 was significantly greater for all sea lions during all seasons. All animals did, however, tend to gain less body mass on Diets 2 and 3, as well as during the breeding and postbreeding seasons. They also tended to gain more mass during the winter and on Diet 1, though these differences were not statistically significant. Thus, changing seasonal physiology of Steller sea lions appears to have more impact on body condition than quality of prey, provided sufficient quantity of prey is available. Steller sea lions are opportunistic predators and are evidently able to thrive on a variety of prey. Our results indicate that Steller sea lions are capable of compensating for prey of low quality.
Spatial‐temporal patterns in intra‐annual gray whale foraging: Characterizing interactions between predators and prey in Clayquot Sound, British Columbia, Canada
Authors: Nelson T. A. , Duffus D. A. , Robertson C. , Feyrer L. J. 
Published: April 2008

AbstractIn Clayquot Sound, British Columbia, gray whales (Eschrichtius robustus) forage primarily on mysids (FamilyMysideae) and also on crab larvae (FamilyPorcellanidae) that are constrained to specific habitat, which relate to bathymetric depths. In this paper we characterize the interactions of gray whales and their prey by analyzing fine scale spatial‐temporal patterns in foraging gray whale distribution within a season. Kernel density estimators are applied to two seasons (1998 and 2002) of high‐resolution data on foraging by gray whales. By partitioning data from each foraging season into several time periods (12 in 1998 and 11 in 2002), using a temporal autocorrelation function, and generating kernel density estimated surfaces for each time period, it is possible to identify discrete areas of increasing and declining foraging effort. Our results indicate that gray whales forage on mysids throughout a season and opportunistically forage on crab larvae. The episodic crab larvae feeding may reduce, but not eliminate, pressure to mysid populations enabling mysids to reassemble swarms and continue to support gray whale foraging in the latter part of the season. Results suggest that when managing marine environments, gray whale populations require multiple and connected habitats for summer foraging.
Transthyretin Accelerates Vascular Aβ Deposition in a Mouse Model of Alzheimer's Disease
Authors: Wati Henny , Kawarabayashi Takeshi , Matsubara Etsuro , Kasai Ayumi , Hirasawa Takae , Kubota Takeo , Harigaya Yasuo , Shoji Mikio , Maeda Shuichiro 
Published: April 2008

AbstractTransthyretin (TTR) binds amyloid‐β (Aβ) and prevents Aβ fibril formation in vitro. It was reported that the lack of neurodegeneration in a transgenic mouse model of Alzheimer's disease (AD) (Tg2576 mouse) was associated with increased TTR level in the hippocampus, and that chronic infusion of anti‐TTR antibody into the hippocampus of Tg2576 mice led to increased local Aβ deposits, tau hyperphosphorylation and apoptosis. TTR is, therefore, speculated to prevent Aβ pathology in AD. However, a role for TTR in Aβ deposition is not yet known. To investigate the relationship between TTR and Aβ deposition, we generated a mouse line carrying a null mutation at the endogenous TTR locus and the human mutant amyloid precursor protein cDNA responsible for familial AD (Tg2576/TTR−/− mouse) by crossing Tg2576 mice with TTR‐deficient mice. We asked whether Aβ deposition was accelerated in Tg2576/TTR−/− mice relative to the heterozygous mutant Tg2576 (Tg2576/TTR+/−) mice. Contrary to our expectations, the degree of total and vascular Aβ burdens in the aged Tg2576/TTR−/− mice was significantly reduced relative to the age‐matched Tg2576/TTR+/− mice. Our experiments present, for the first time, compelling evidence that TTR does not suppress but rather accelerates vascular Aβ deposition in the mouse model of AD.
Transfusion‐associated circulatory overload
Authors: Popovsky M. A. 
Published: April 2008

Transfusion‐associated circulatory overload (TACO) is cardiogenic pulmonary oedema due to infusion of rapid or large volume blood product. TACO is a frequent, serious, but under‐recognized complication of haemotherapy. Presenting symptoms include dyspnoea, cyanosis, tachycardia and increased blood pressure. Pedal oedema, headache, chest tightness and dry cough are additional manifestations. Chest radiographs reveal pulmonary oedema and cardiomegaly. Vulnerable patients are the very young and persons over 60 years. While rapid infusion or massive transfusion are frequently the precipitating factors, relatively small volumes (1–2 units) are sufficient to trigger the congestive heart failure. Both haeme and non‐haeme fluids account for the positive fluid balance. Fresh‐frozen plasma (FFP) and autologous red blood cells have been implicated as well. Consequences include longer length of intensive care unit and hospital stay. The fatality rate has been reported to be 1–3%, but this may understate the true rate. The incidence has been reported to be 1–8% in orthopaedic surgical populations. In general hospital populations a range of 1 : 708–1 : 4075 red blood cell transfusions is associated with TACO. In the intensive care setting, an incidence of 1 : 356 components has been demonstrated. TACO is frequently confused with transfusion‐related acute lung injury (TRALI). In some cases, TRALI and TACO may co‐exist. A potentially important diagnostic tool is brain natriuretic peptide. Brain natriuretic peptide is elevated in TACO and a post‐transfusion‐to‐pre‐transfusion ratio of 1·5 is indicative of the diagnosis. The test has a sensitivity of 81% and a specificity of 89%. Treatment includes supplementary oxygen, diuretics, placing the patient in a sitting position and therapeutic phlebotomy in 250‐ml increments. While rapid infusion is believed to be a contributing factor, optimal infusion rates for the non‐emergency situation have not been determined. TACO has been observed with flow rates between 0·9 and 48·1 ml/min. Preventive measures include use of evidence‐based transfusion and controlled‐rate infusion. Measures that insure the use of standardized blood components, such as derived through apheresis, are likely to favourably impact the incidence of this complication.
Dysthymia in male adolescents is associated with increased risk of later hospitalization for psychotic disorders: a historical‐prospective cohort study
Authors: Weiser Mark , Lubin Gad , Caspi Asaf , Rabinowitz Jonathan , Shmushkevitz Mordechai , Yoffe Rinat , Werbeloff Nomi , Halperin Demian , Davidson Michael 
Published: April 2008

AbstractAim: Retrospective studies indicate that patients with psychotic disorders and schizophrenia often suffer from depressive symptoms before the onset of psychosis. In a historical‐prospective design, we studied the association between dysthymia in adolescence and later hospitalization for psychotic disorders and schizophrenia.Methods: The Israeli Draft Board screens the entire, unselected population of 16–17 years old male adolescents for psychiatric disorders. These adolescents were followed for hospitalization for psychotic disorders and schizophrenia using the Israeli National Psychiatric Hospitalization Case Registry. Of 275 705 male adolescents screened, 1267 (0.5%) were hospitalized for psychotic disorders (International Classification of Diseases [ICD]‐10 20.0–29.9), and 757 (0.3%) were hospitalized for schizophrenia (ICD‐10 20.0–20.9) over the next 1–10 years.Results: Of 275 705 male adolescents screened, 513 (0.2%) were diagnosed as suffering from dysthymia by the Draft Board. Of these adolescents, 10/513 (2.0%) were later hospitalized for psychotic disorders (including schizophrenia, HR = 3.967, 95%CI (confidence intervals): 2.129–7.390), and 4/513 (0.8%) were later hospitalized for schizophrenia (HR = 2.664, 95%CI: 0.997–7.116).Conclusions: In this population‐based cohort of male adolescents, dysthymia was associated with increased risk for future psychotic disorders. Dysthymia in some adolescents might be a prodromal symptom, while in others it might be a risk factor for later psychosis. Clinicians assessing dysthymic adolescents should be aware that these symptoms might be part of the prodrome.
Positive schizotypy is not associated with speech abnormality
Authors: Weinstein Sara , McKay Rachel , Ngan Elton T. 
Published: April 2008

AbstractAim: This study examined whether speech abnormalities typical of formal thought disorder in schizophrenia vary with the degree of positive schizotypy in the healthy population. We hypothesized that participants with high levels of positive schizotypy would show greater abnormality in speech relative to those with low levels of positive schizotypy.Methods: Participants (n = 107) were prescreened with a positive schizotypy scale. Those meeting criteria for either high (n = 23) or low (n = 27) schizotypy provided speech samples which were assessed with a clinical though disorder rating scale (Thought and Language Index) for the presence of abnormality.Results: No significant differences were found in positive (P = 0.25) or negative (P = 0.21) speech abnormality between the high and low schizotypy groups.Conclusion: Although schizotypy is normally distributed in the general population, speech abnormality is not. Thus, the presence of aberrations in speech may predict risk of psychosis. Potential implications for risk assessment are discussed.
Integrating primary care and early intervention in psychosis services: a general practitioner perspective
Authors: Gavin Blanaid , Cullen Walter , Foley Sharon , McWilliams Stephen , Turner Niall , O'Callaghan Eadbhard , Bury Gerard 
Published: April 2008

AbstractAims: Earlier detection and treatment of psychosis is associated with improved health outcomes. While the role of specialist services to facilitate early diagnosis and treatment has been extensively described internationally, little data on their impact on general practice has been reported. A new specialist service for psychosis – the ‘Dublin East Treatment and Early Care Team (DETECT)’– has recently been established. This study aimed to describe general practitioners' (GPs) attitudes towards working within the catchment area of an early intervention service.Methods: A purposive sample of GPs practising in DETECT's catchment area was identified from the Irish Medical Directory and invited to participate in a semi‐structured interview. The sampling parameters were solo/practice and area of practice. Participants were provided with information regarding the new service and a range of educational material. Each interview was reviewed by two researchers who identified dominant themes. The study was approved by the Research Ethics Committee of the Irish College of GPs.Results: 16 GPs were interviewed. The DETECT early intervention model was identified as reducing the challenges of managing psychosis in primary care including the practical difficulties of accessing psychiatric assessment and the pervasive effect of stigma. Participants viewed communication between primary and specialist care as essential to the success of early intervention services.Conclusions: General Practice has an important role in early detection of psychosis and accessing timely psychiatric evaluations of suspected psychosis. Increasing awareness among GPs and ensuring the early intervention model is responsive to primary care can support this role.
The radioprotective properties of fungal melanin are a function of its chemical composition, stable radical presence and spatial arrangement
Authors: Dadachova Ekaterina , Bryan Ruth A. , Howell Robertha C. , Schweitzer Andrew D. , Aisen Philip , Nosanchuk Joshua D. , Casadevall Arturo 
Published: April 2008

SummaryMelanized microorganisms are often found in environments with very high background radiation levels such as in nuclear reactor cooling pools and the destroyed reactor in Chernobyl. These findings and the laboratory observations of the resistance of melanized fungi to ionizing radiation suggest a role for this pigment in radioprotection. We hypothesized that the radioprotective properties of melanin in microorganisms result from a combination of physical shielding and quenching of cytotoxic free radicals. We have investigated the radioprotective properties of melanin by subjecting the human pathogenic fungi Cryptococcus neoformans and Histoplasma capsulatum in their melanized and non‐melanized forms to sublethal and lethal doses of radiation of up to 8 kGy. The contribution of chemical composition, free radical presence, spatial arrangement, and Compton scattering to the radioprotective properties of melanin was investigated by high‐performance liquid chromatography, electron spin resonance, transmission electron microscopy, and autoradiographic techniques. Melanin protected fungi against ionizing radiation and its radioprotective properties were a function of its chemical composition, free radical quenching, and spherical spatial arrangement.
GRADUATE UNEMPLOYMENT IN THE FACE OF SKILLS SHORTAGES: A LABOUR MARKET PARADOX1
Authors: Pauw K. , Oosthuizen M. , Van Der Westhuizen C. 
Published: April 2008

AbstractAnalysts agree that South Africa's unemployment is structural in the sense that the unemployed generally possess lower skills than what is required by the economy. In the context of increasing demand for skilled workers due to technological changes and the need to become globally more competitive, graduates would be expected to find employment without difficulty. However, against expectations unemployment has been increasing among young people with tertiary qualifications since 1995. This paper investigates the nature of this phenomenon. Evidence suggests that learners are inadequately prepared for both tertiary studies and entry into the labour market. Lack of, or inadequate career guidance means that they do not choose fields of study and types of qualifications with good employment prospects. In addition, lack of soft skills and workplace experience mean that employers are reluctant to employ graduates, preferring more experienced people instead.