Severe haemophilia carries an increased risk of life-threatening intracranial haemorrhages. Studies in adult survivors show a relatively high percentage of anterior pituitary hypofunction reported as the most frequent complication. We report the case of isolated growth hormone deficiency in a boy with severe haemophilia A. He experienced several intracranial haemorrhages in early childhood. At the age of seven years, growth hormone deficiency was diagnosed. The MRI scan of the pituitary gland was normal, but many focal changes in brain tissue were found. The function of pituitary-dependent hormonal axes beyond GH/IGF1 axis was sufficient. Therapy with rhGH was introduced and continued for over nine years. Growth velocity increased and the height normalised appropriately to parental height. We did not observe any complications besides sporadic subcutaneous bleedings. Patients with haemophilia should be considered as a high-risk group for hypopituitarism. Subcutaneous rhGH injections can be safe even in severe haemophilia.
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http://dx.doi.org/10.5114/pedm.2020.95619 | DOI Listing |
BMC Pediatr
January 2025
Geriatric Mental Health Research Center, Department of Psychiatry, School of Medicine, Iran University of Medical Sciences, Tehran, Iran.
Background: This case report describes a unique presentation of sphingosine-1-phosphate lyase insufficiency syndrome (SPLIS) caused by a rare SGPL1 variant, highlighting the diagnostic and management challenges associated with this condition.
Case Presentation: A 2-year-old Iranian female presented with steroid-resistant nephrotic syndrome (NS), primary adrenal insufficiency (AI), growth delay, seizures, and hyperpigmentation. Laboratory evaluation revealed hypoalbuminemia, significant proteinuria, hyperkalemia, and elevated adrenocorticotropic hormone (ACTH) levels.
ESMO Open
January 2025
Abramson Cancer Center, University of Pennsylvania, Philadelphia, USA.
Background: Concomitant intake of proton pump inhibitors (PPIs) may create drug-drug interactions, potentially impacting efficacy of anticancer agents. In the phase III PALLAS trial, the addition of palbociclib capsules to standard adjuvant endocrine therapy in patients with hormone receptor-positive, human epidermal growth factor receptor 2-negative early breast cancer did not improve invasive disease-free survival (iDFS). We explored whether concomitant use of PPIs affected survival outcomes in patients treated with palbociclib in PALLAS.
View Article and Find Full Text PDFESMO Open
January 2025
UPMC Hillman Cancer Center, University of Pittsburgh Medical Center, Pittsburgh, USA.
Background: Randomized controlled trials have shown inconsistent overall survival (OS) benefit among the three cyclin-dependent kinase 4/6 inhibitors (CDK4/6i) as first-line (1L) treatment of patients with hormone receptor-positive (HR+)/human epidermal growth factor receptor 2-negative (HER2-) metastatic breast cancer (mBC). Several real-world studies compared CDK4/6i effectiveness, with inconsistent findings. This study compared overall survival (OS) of patients with HR+/HER2- mBC receiving 1L palbociclib, ribociclib, or abemaciclib, in combination with an aromatase inhibitor (AI), in US clinical practice.
View Article and Find Full Text PDFESMO Open
January 2025
Clinical Trial Unit, Istituto Nazionale Tumori-IRCCS-Fondazione G. Pascale, Naples, Italy. Electronic address:
Background: The Hormonal Bone Effects (HOBOE) study tested whether adjuvant triptorelin plus either letrozole (L) or zoledronic acid (Z) plus L (ZL) was more effective than tamoxifen (T) in premenopausal patients with hormone receptor-positive (HR+) early breast cancer (BC). Here we report the long-term follow-up analysis.
Patients And Methods: HOBOE (ClinicalTrials.
Poult Sci
December 2024
State Key Laboratory of Swine and Poultry Breeding Industry, Key Laboratory of Livestock and Poultry Multi-omics, Ministry of Agriculture and Rural Affairs, and Farm Animal Genetic Resources Exploration and Innovation Key Laboratory of Sichuan Province, College of Animal Science and Technology, Sichuan Agricultural University, Chengdu, China. Electronic address:
For commercial laying hens, the continuous high-intensity ovulation process leads to a significant accumulation of reactive oxygen species (ROS) in the granulosa cells, inducing oxidative stress, which accelerates ovarian aging and shortens the peak laying period. The molecular mechanisms underlying this process remain poorly understood. Therefore, we modeled the processes of oxidative stress and antioxidant in chicken granulosa cells.
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