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Current status and unanswered questions on the use of Denosumab in giant cell tumor of bone
Denosumab is a monoclonal antibody to RANK ligand approved for use in giant cell tumour (GCT) of bone. Due to its efficacy, Denosumab is recommended...
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Genetics of Congenital Heart Disease: Past and Present
Congenital heart disease is the most common congenital anomaly, representing an important cause of infant morbidity and mortality. Congenital heart...
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Case Report: The risks associated with chronic theophylline therapy and measures designed to improve monitoring and management
BackgroundSymptoms of theophylline toxicity and factors that augment the risk of develo** it are well documented in the literature. However these...
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Two patients with small chromosome 22q11.21 alterations and central nervous system abnormalities
BackgroundCentral nervous system features have been rarely described to be associated with the small deletion or duplication of chromosome 22q11.21.
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TRPM6 and Hypomagnesaemia/Hypocalcaemia
Magnesium (Mg2+) is an abundant intra- as well as extracellular divalent cation. It is essential for multiple intracellular processes. Its major...
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A catalog of hemizygous variation in 127 22q11 deletion patients
The 22q11.2 deletion syndrome is the most common microdeletion disorder, with wide phenotypic variability. To investigate variation within the...
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Fat-Soluble and Antioxidant Vitamins and Minerals: Their Roles in Placentation
Vitamins and minerals, often termed as micronutrients, serve essential roles in cellular metabolism, maintenance, and growth throughout life....
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A phase I combination dose-escalation study of eribulin mesylate and gemcitabine in patients with advanced solid tumours: a study of the Princess Margaret Consortium
Background:Eribulin mesylate is a synthetic microtubule inhibitor that showed cytotoxic synergy in combination with gemcitabine preclinically. This...
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Clinical Management of Viral Encephalitis
Viral encephalitis has devastating impacts on patients, families, carers and health systems throughout the world. There are a great number of viral...
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Effects of Polycan on calcium bioavailability in two different rat models of osteoporosis
This study evaluated the effects of Polycan, a β -glucan produced by Aureobasidium pullulans SM-2001, on calcium (Ca) bioavailability in an...
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Bone Metastases
Bone is a common site of secondary involvement in advanced cancers. Around 70 % of patients with advanced breast and prostate cancers and up to 30–40...
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Retrospective Analysis of TREC Based Newborn Screening Results and Clinical Phenotypes in Infants with the 22q11 Deletion Syndrome
PurposePopulation-based newborn screening using T-cell receptor excision circles (TREC) identifies infants with severe T-lymphopenia, seen in severe...
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Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH
BackgroundConventional karyoty** (550 bands resolution) is able to identify chromosomal aberrations >5-10 Mb, which represent a known cause of...
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Understanding the Benefits of Bariatric Surgery on Gut Physiology: Implications for Obesity, Type 2 Diabetes, and Cardiovascular Disease
Seminal discoveries in the bariatric surgery field have revealed a remarkable link between gastrointestinal physiology and obesity, a link that...
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European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study
Pseudohypoparathyroidism is a rare endocrine disorder that can be caused by genetic (mainly maternally inherited inactivating point mutations,...
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Intergenerational and intrafamilial phenotypic variability in 22q11.2 Deletion syndrome subjects
Background22q11.2 deletion syndrome (22q11.2DS) is a common microdeletion syndrome, which occurs in approximately 1:4000 births. Familial autosomal...
