Search Results
Department of General Surgery, Tangdu Hospital, Air Force Medical University, Xi’an, Shaanxi, People’s Republic of China
Search for other papers by Lijuan Yuan in
Google Scholar
PubMed
Search for other papers by Xihui Chen in
Google Scholar
PubMed
Search for other papers by Ziyu Liu in
Google Scholar
PubMed
Search for other papers by Dan Wu in
Google Scholar
PubMed
Search for other papers by Jianguo Lu in
Google Scholar
PubMed
Search for other papers by Guoqiang Bao in
Google Scholar
PubMed
Search for other papers by Sijia Zhang in
Google Scholar
PubMed
Search for other papers by Lifeng Wang in
Google Scholar
PubMed
Search for other papers by Yuanming Wu in
Google Scholar
PubMed
Primary hypertrophic osteoarthropathy (PHO) is a rare familial disorder with reduced penetrance for females. The genetic mutations associated with PHO have been identified in HPGD and SLCO2A1, which involved in prostaglandin E2 metabolism. Here, we report 5 PHO patients from four non-consanguineous families. Two heterozygous mutations in solute carrier organic anion transporter family member 2A1 (SLCO2A1) were identified in two brothers by whole-exome sequencing. Three heterozygous mutations and one homozygous mutation were identified in other three PHO families by Sanger sequencing. However, there was no mutation in HPGD. These findings confirmed that homozygous or compound heterozygous mutations of SLCO2A1 were the pathogenic cause of PHO. A female individual shared the same mutations in SLCO2A1 with her PHO brother but did not have any typical PHO symptoms. The influence of sex hormones on the pathogenesis of PHO and its implication were discussed.
Search for other papers by Kaisu Luiro in
Google Scholar
PubMed
Search for other papers by Kristiina Aittomäki in
Google Scholar
PubMed
Search for other papers by Pekka Jousilahti in
Google Scholar
PubMed
Department of Obstetrics and Gynecology, University of Oulu and Oulu University Hospital, Medical Research Center, PEDEGO Research Unit, Oulu, Finland
Search for other papers by Juha S Tapanainen in
Google Scholar
PubMed
Objective
To study the use of hormone therapy (HT), morbidity and reproductive outcomes of women with primary ovarian insufficiency (POI) due to FSH-resistant ovaries (FSHRO).
Design
A prospective follow-up study in a university-based tertiary clinic setting.
Methods
Twenty-six women with an inactivating A189V FSH receptor mutation were investigated by means of a health questionnaire and clinical examination. Twenty-two returned the health questionnaire and 14 were clinically examined. Main outcome measures in the health questionnaire were reported as HT, morbidity, medication and infertility treatment outcomes. In the clinical study, risk factors for cardiovascular disease (CVD) and metabolic syndrome (MetS) were compared to age-matched controls from a national population survey (FINRISK). Average number of controls was 326 per FSHRO subject (range 178–430). Bone mineral density and whole-body composition were analyzed with DXA. Psychological and sexual well-being was assessed with Beck Depression Inventory (BDI21), Generalized Anxiety Disorder 7 (GAD-7) and Female Sexual Function Index (FSFI) questionnaires.
Results
HT was initiated late (median 18 years of age) compared with normal puberty and the median time of use was shorter (20–22 years) than the normal fertile period. Osteopenia was detected in 9/14 of the FSHRO women despite HT. No major risk factors for CVD or diabetes were found.
Conclusions
HT of 20 years seems to be associated with a similar cardiovascular and metabolic risk factor profile as in the population control group. However, optimal bone health may require an early-onset and longer period of HT, which would better correspond to the natural fertile period.
Search for other papers by Ravikumar Shah in
Google Scholar
PubMed
Search for other papers by Anurag R Lila in
Google Scholar
PubMed
Search for other papers by Ramteke-Swati Jadhav in
Google Scholar
PubMed
Search for other papers by Virendra Patil in
Google Scholar
PubMed
Search for other papers by Abhishek Mahajan in
Google Scholar
PubMed
Search for other papers by Sushil Sonawane in
Google Scholar
PubMed
Search for other papers by Puja Thadani in
Google Scholar
PubMed
Search for other papers by Anil Dcruz in
Google Scholar
PubMed
Search for other papers by Prathamesh Pai in
Google Scholar
PubMed
Search for other papers by Munita Bal in
Google Scholar
PubMed
Search for other papers by Subhada Kane in
Google Scholar
PubMed
Search for other papers by Nalini Shah in
Google Scholar
PubMed
Search for other papers by Tushar Bandgar in
Google Scholar
PubMed
Tumor-induced osteomalacia in the head and neck region remains a challenging diagnosis to manage. Literature pertaining to management and outcome details remains sparse. We describe two cohorts: cohort 1 included seven patients from a single center in Western India with tumors located in paranasal sinuses (n = 3), intracranial (n = 2) and maxilla (n = 2). The unique features from our series is the management of persistent disease with radiation therapy (n = 2) and peptide receptor radionuclide therapy (PRRT) (n = 1). Cohort two has 163 patients identified from 109 publications for systematic review. Paranasal sinuses, mandible, intracranial disease, maxilla and oral cavity, in descending order, are reportedly common tumor sites. Within this cohort, mean age was 46 ± 14 years at presentation with 44.1% having local symptoms. Duration of symptoms varied from 1 to 240 months. Pre-surgery mean serum phosphorus was 1.4 ± 0.4 mg/dL and median FGF-23 levels were 3.6 (IQR:1.8–6.8) times of normal upper limit of normal. Majority (97.5%) were managed primarily with surgical excision; however, primary radiotherapy (n = 2) and surgery combined with radiotherapy (n = 2) were also reported. Twenty patients had persistent disease while nine patients had recurrence, more commonly noted with intracranial and oral cavity tumors. Surgery was the most common second mode of treatment employed succeeded by radiotherapy. Four patients had metastatic disease. The most common histopathological diagnosis reported is PMT mixed connective tissue, while the newer terminology ‘PMT mixed epithelial and connective tissue type’ has been described in 15 patients.
Search for other papers by Stephen A Martin in
Google Scholar
PubMed
Search for other papers by Kenneth A Philbrick in
Google Scholar
PubMed
Search for other papers by Carmen P Wong in
Google Scholar
PubMed
Search for other papers by Dawn A Olson in
Google Scholar
PubMed
Search for other papers by Adam J Branscum in
Google Scholar
PubMed
Search for other papers by Donald B Jump in
Google Scholar
PubMed
Search for other papers by Charles K Marik in
Google Scholar
PubMed
Search for other papers by Jonathan M DenHerder in
Google Scholar
PubMed
Search for other papers by Jennifer L Sargent in
Google Scholar
PubMed
Center for Healthy Aging Research, Oregon State University, Corvallis, Oregon, USA
Search for other papers by Russell T Turner in
Google Scholar
PubMed
Center for Healthy Aging Research, Oregon State University, Corvallis, Oregon, USA
Search for other papers by Urszula T Iwaniec in
Google Scholar
PubMed
Mice are a commonly used model to investigate aging-related bone loss but, in contrast to humans, mice exhibit cancellous bone loss prior to skeletal maturity. The mechanisms mediating premature bone loss are not well established. However, our previous work in female mice suggests housing temperature is a critical factor. Premature cancellous bone loss was prevented in female C57BL/6J mice by housing the animals at thermoneutral temperature (where basal rate of energy production is at equilibrium with heat loss). In the present study, we determined if the protective effects of thermoneutral housing extend to males. Male C57BL/6J mice were housed at standard room temperature (22°C) or thermoneutral (32°C) conditions from 5 (rapidly growing) to 16 (slowly growing) weeks of age. Mice housed at room temperature exhibited reductions in cancellous bone volume fraction in distal femur metaphysis and fifth lumbar vertebra; these effects were abolished at thermoneutral conditions. Mice housed at thermoneutral temperature had higher levels of bone formation in distal femur (based on histomorphometry) and globally (serum osteocalcin), and lower global levels of bone resorption (serum C-terminal telopeptide of type I collagen) compared to mice housed at room temperature. Thermoneutral housing had no impact on bone marrow adiposity but resulted in higher abdominal white adipose tissue and serum leptin. The overall magnitude of room temperature housing-induced cancellous bone loss did not differ between male (current study) and female (published data) mice. These findings highlight housing temperature as a critical experimental variable in studies using mice of either sex to investigate aging-related changes in bone metabolism.
Search for other papers by Elin Kahlert in
Google Scholar
PubMed
Endokrinologikum Goettingen, Goettingen, Germany
Search for other papers by Martina Blaschke in
Google Scholar
PubMed
Search for other papers by Knut Brockmann in
Google Scholar
PubMed
Search for other papers by Clemens Freiberg in
Google Scholar
PubMed
Search for other papers by Onno E Janssen in
Google Scholar
PubMed
Search for other papers by Nikolaus Stahnke in
Google Scholar
PubMed
Search for other papers by Domenika Strik in
Google Scholar
PubMed
Search for other papers by Martin Merkel in
Google Scholar
PubMed
Search for other papers by Alexander Mann in
Google Scholar
PubMed
Search for other papers by Klaus-Peter Liesenkötter in
Google Scholar
PubMed
Endokrinologikum Goettingen, Goettingen, Germany
Search for other papers by Heide Siggelkow in
Google Scholar
PubMed
Objective
Turner syndrome (TS) is characterized by the complete or partial loss of the second sex chromosome and associated with a wide range of clinical manifestations. We aimed to assess the medical care of adult patients with TS in Germany.
Design
Retrospective multicenter observational study.
Methods
Data were collected from medical records of 258 women with TS treated between 2001 and 2017 in five non-university endocrinologic centers in Germany.
Results
Mean age was 29.8 ± 11.6 years, mean height 152 ± 7.7 cm, and mean BMI 26.6 ± 6.3 kg/m2. The karyotype was known in 50% of patients. Information on cholesterol state, liver enzymes, and thyroid status was available in 81–98% of women with TS; autoimmune thyroiditis was diagnosed in 37%. Echocardiography was performed in 42% and cardiac MRI in 8.5%, resulting in a diagnosis of cardiovascular disorder in 28%. Data on growth hormone therapy were available for 40 patients (15%) and data concerning menarche in 157 patients (61%).
Conclusion
In 258 women with TS, retrospective analysis of healthcare data indicated that medical management was focused on endocrine manifestations. Further significant clinical features including cardiovascular disease, renal malformation, liver involvement, autoimmune diseases, hearing loss, and osteoporosis were only marginally if at all considered. Based on this evaluation and in accordance with recent guidelines, we compiled a documentation form facilitating the transition from pediatric to adult care and further medical management of TS patients. The foundation of Turner Centers in March 2019 will improve the treatment of TS women in Germany.
Musculoskeletal Research Laboratory and Bone Quality and Health Assessment Centre, Department of Orthopedics & Traumatology, The Chinese University of Hong Kong, Hong Kong SAR, Hong Kong
Search for other papers by Qianqian Pang in
Google Scholar
PubMed
Department of Endocrinology, The First Affiliated Hospital of Shanxi Medical University, Taiyuan, Shanxi, China
Search for other papers by Yuping Xu in
Google Scholar
PubMed
Search for other papers by Xuan Qi in
Google Scholar
PubMed
Search for other papers by Yan Jiang in
Google Scholar
PubMed
Search for other papers by Ou Wang in
Google Scholar
PubMed
Search for other papers by Mei Li in
Google Scholar
PubMed
Search for other papers by Xiaoping Xing in
Google Scholar
PubMed
Search for other papers by Ling Qin in
Google Scholar
PubMed
Search for other papers by Weibo Xia in
Google Scholar
PubMed
Background
Primary hypertrophic osteoarthropathy (PHO) is a rare genetic multi-organic disease characterized by digital clubbing, periostosis and pachydermia. Two genes, HPGD and SLCO2A1, which encodes 15-hydroxyprostaglandin dehydrogenase (15-PGDH) and prostaglandin transporter (PGT), respectively, have been reported to be related to PHO. Deficiency of aforementioned two genes leads to failure of prostaglandin E2 (PGE2) degradation and thereby elevated levels of PGE2. PGE2 plays an important role in tumorigenesis. Studies revealed a tumor suppressor activity of 15-PGDH in tumors, such as lung, bladder and breast cancers. However, to date, no HPGD-mutated PHO patients presenting concomitant tumor has been documented. In the present study, we reported the first case of HPGD-mutated PHO patient with soft tissue giant tumors at lower legs and evaluated the efficacy of selective COX-2 inhibitor (etoricoxib) treatment in the patient.
Methods
In this study, we summarized the clinical data, collected the serum and urine samples for biochemical test and analyzed the HPGD gene in our patient.
Results
A common HPGD mutation c.310_311delCT was identified in the patient. In addition to typical clinical features (digital clubbing, periostosis and pachydermia), the patient demonstrated a new clinical manifestation, a giant soft tissue tumor on the left lower leg which has not been reported in HPGD-mutated PHO patient before. After 6-month treatment with etoricoxib, the patient showed decreased PGE2 levels and improved PHO-related symptoms. Though the soft tissue tumor persisted, it seemed to be controlled under the etoricoxib treatment.
Conclusion
This finding expanded the clinical spectrum of PHO and provided unique insights into the HPGD-mutated PHO.
Search for other papers by Ulla Schmidt in
Google Scholar
PubMed
Search for other papers by Birte Nygaard in
Google Scholar
PubMed
Search for other papers by Ebbe Winther Jensen in
Google Scholar
PubMed
Search for other papers by Jan Kvetny in
Google Scholar
PubMed
Search for other papers by Anne Jarløv in
Google Scholar
PubMed
Endocrine Unit, Department of Medicine, Endocrine Unit, Faculty of Health Sciences, Department of Medicine O, Herlev University Hospital, Herlev Ringvej, DK-2730 Herlev, Denmark
Search for other papers by Jens Faber in
Google Scholar
PubMed
Background
A recent randomized controlled trial suggests that hypothyroid subjects may find levothyroxine (l-T4) and levotriiodothyronine combination therapy to be superior to l-T4 monotherapy in terms of quality of life, suggesting that the brain registered increased T3 availability during the combination therapy.
Hypothesis
Peripheral tissue might also be stimulated during T4/T3 combination therapy compared with T4 monotherapy.
Methods
Serum levels of sex hormone-binding globulin (SHBG), pro-collagen-1-N-terminal peptide (PINP), and N-terminal pro-brain natriuretic peptide (NT-proBNP) (representing hepatocyte, osteoblast, and cardiomyocyte stimulation respectively) were measured in 26 hypothyroid subjects in a double-blind, randomized, crossover trial, which compared the replacement therapy with T4/T3 in combination (50 μg T4 was substituted with 20 μg T3) to T4 alone (once daily regimens). This was performed to obtain unaltered serum TSH levels during the trial and between the two treatment groups. Blood sampling was performed 24 h after the last intake of thyroid hormone medication.
Results
TSH remained unaltered between the groups ((median) 0.83 vs 1.18 mU/l in T4/T3 combination and T4 monotherapy respectively; P=0.534). SHBG increased from (median) 75 nmol/l at baseline to 83 nmol/l in the T4/T3 group (P=0.015) but remained unaltered in the T4 group (67 nmol/l); thus, it was higher in the T4/T3 vs T4 group (P=0.041). PINP levels were higher in the T4/T3 therapy (48 vs 40 μg/l (P<0.001)). NT-proBNP did not differ between the groups.
Conclusions
T4/T3 combination therapy in hypothyroidism seems to have more metabolic effects than the T4 monotherapy.
Search for other papers by Eva Novoa in
Google Scholar
PubMed
Search for other papers by Marcel Gärtner in
Google Scholar
PubMed
Search for other papers by Christoph Henzen in
Google Scholar
PubMed
Objective
The study aimed to assess the possible systemic effects of intratympanic dexamethasone (IT-Dex) on the hypothalamic–pituitary–adrenal (HPA) axis, inflammation, and bone metabolism.
Design
A prospective cohort study including 30 adult patients of a tertiary referral ENT clinic treated with 9.6 mg IT-Dex over a period of 10 days was carried out.
Methods
Effects on plasma and salivary cortisol concentrations (basal and after low-dose (1 μg) ACTH stimulation), peripheral white blood cell count, and biomarkers for bone turnover were measured before (day 0) and after IT-Dex (day 16). Additional measurements for bone turnover were performed 5 months after therapy. Clinical information and medication with possible dexamethasone interaction were recorded.
Results
IT-Dex was well tolerated, and no effect was detected on the HPA axis (stimulated plasma and salivary cortisol concentration on day 0: 758±184 and 44.5±22.0 nmol/l; day 16: 718±154 and 39.8±12.4 nmol/l; P=0.58 and 0.24 respectively). Concentrations of osteocalcin (OC) and bone-specific alkaline phosphatase (BSAP) did not differ after dexamethasone (OC on days 0 and 16 respectively: 24.1±10.5 and 23.6±8.8 μg/l; BSAP on day 0, 16, and after 5 months respectively: 11.5±4.2, 10.3±3.4, and 12.6±5.06 μg/l); similarly, there was no difference in the peripheral white blood cell count (5.7×1012/l and 6.1×1012/l on days 0 and 16 respectively).
Conclusions
IT-Dex therapy did not interfere with endogenous cortisol secretion or bone metabolism.
Search for other papers by Lu Liu in
Google Scholar
PubMed
Search for other papers by Chunyan Li in
Google Scholar
PubMed
Search for other papers by Peng Yang in
Google Scholar
PubMed
Search for other papers by Jian Zhu in
Google Scholar
PubMed
Search for other papers by Dongmei Gan in
Google Scholar
PubMed
Search for other papers by Le Bu in
Google Scholar
PubMed
Search for other papers by Manna Zhang in
Google Scholar
PubMed
Search for other papers by Chunjun Sheng in
Google Scholar
PubMed
Search for other papers by Hong Li in
Google Scholar
PubMed
Search for other papers by Shen Qu in
Google Scholar
PubMed
Alendronate (ALN) is a commonly used drug for the treatment of osteoporosis. Atypical femur fractures (AFFs) have been associated with long-term use of ALN and have recently become the subject of considerable attention as ALN use increases. This meta-analysis aimed to determine the relationship between ALN and AFF. The Embase, PubMed, and Cochrane library databases were searched for relevant studies published before November 6, 2014. Studies clearly reporting the relationship between ALN and AFF were selected for our analysis. From these results, the relationship between ALN and AFF was analyzed. Weighted mean differences were calculated using a random-effects model. Five studies were included in this meta-analysis. The results revealed that the use of ALN will not increase the risk of AFF in short term (P>0.05), but there will be a risk of AFF (P<0.05) with long-term (>5 years) use of ALN. These findings indicate that long-term use of ALN is a risk factor for AFF and that more attention should be paid to the clinical applications of ALN.
Search for other papers by Veronica Kieffer in
Google Scholar
PubMed
Search for other papers by Kate Davies in
Google Scholar
PubMed
Search for other papers by Christine Gibson in
Google Scholar
PubMed
Search for other papers by Morag Middleton in
Google Scholar
PubMed
Search for other papers by Jean Munday in
Google Scholar
PubMed
Search for other papers by Shashana Shalet in
Google Scholar
PubMed
Search for other papers by Lisa Shepherd in
Google Scholar
PubMed
Search for other papers by Phillip Yeoh in
Google Scholar
PubMed
This competency framework was developed by a working group of endocrine specialist nurses with the support of the Society for Endocrinology to enhance the clinical care that adults with an endocrine disorder receive. Nurses should be able to demonstrate that they are functioning at an optimal level in order for patients to receive appropriate care. By formulating a competency framework from which an adult endocrine nurse specialist can work, it is envisaged that their development as professional practitioners can be enhanced. This is the second edition of the Competency Framework for Adult Endocrine Nursing. It introduces four new competencies on benign adrenal tumours, hypo- and hyperparathyroidism, osteoporosis and polycystic ovary syndrome. The authors and the Society for Endocrinology welcome constructive feedback on the document, both nationally and internationally, in anticipation that further developments and ideas can be incorporated into future versions.
