Interleukin 1 gene polymorphism and susceptibility to disease

The Interleukin 1 (IL-1) family plays a central role in the generation and regulation of inflammatory responses, in both innate and adaptive immunity. Although the IL-1 molecules are traditionally considered to be classical proinflammatory cytokines, their functions are not restricted to inflammation, and they have also been shown to play a key role in a wide range of additional physiological and pathological functions, including learning modulation, sleep, pregnancy, depression, appetite, hematopoiesis, metabolism, and many others. Since their effect as cytokines and regulators of inflammation is so pleiotropic, any shift of the biological balance between agonistic and antagonistic signals has the potential to cause disease. Here, we consider the genetic influence of interleukin-1 gene polymorphism in the context of susceptibility to human diseases. We review known single nucleotide polymorphisms (SNP) of IL-1 genes linked to human diseases, and suggest how exploring biological effects of IL-1 gene cluster polymorphism may lead to new directions in understanding and diagnostic of disease and effective treatment.     

The weight of fatherhood: identifying mechanisms to explain paternal perinatal weight gain

Men appear to gain weight during the transition to parenthood, and fathers are heavier than non-fathers. Paternal perinatal weight gain may set weight trajectories in midlife and have long-term health implications. Since men do not undergo the physical demands of pregnancy and breastfeeding, the specific mechanisms underlying weight gain in new fathers warrant investigation. This review aims to stimulate research on paternal perinatal weight gain by suggesting testable potential mechanisms that (1) show change across the transition to parenthood and (2) play a role in weight and body composition. We identify seven mechanisms, within three categories: behavioural mechanisms (sleep, physical activity, and diet), hormonal mechanisms (testosterone and cortisol), and psychological mechanisms (depression and stress). We also discuss direct effects of partner pregnancy influences (e.g., ‘couvade syndrome’) on men’s body weight. In presenting each mechanism, we discuss how it may be affected by the transition to parenthood, and then review its role in body composition and weight. Next, we describe bidirectional and interactive effects, discuss timing, and present three broad research questions to propel theoretical development.     

Relationship between serum magnesium, parathyroid hormone, and vascular calcification in patients on dialysis: a literature review.

Secondary hyperparathyroidism is present in most patients with end-stage renal disease and has been linked to uremic bone disease, vascular calcification, and mortality. Current literature suggests an association between hypomagnesemia and cardiovascular disease in the general population. We reviewed all published studies on the relationship between serum magnesium and parathyroid hormone and the relationship between serum Mg and vascular calcification in dialysis patients. Of these, 10 of 12 studies of patients on hemodialysis and 4 of 5 studies of patients on peritoneal dialysis showed a significantinverse relationship between serum Mg and serum intact parathyroid hormone. Hyperparathyroidism develops in peritoneal dialysis patients dialyzed with a solution containing normal calcium (1.25 mmol/L) and low Mg (0.25 mmol/L), even though serum calcium is maintained at a normal level. Four of the hemodialysis studies and one of the peritoneal dialysis studies indicated that there is an inverse relationship between serum Mg and vascular calcification in these patients. Potential benefits have been attributed to magnesium carbonate as a phosphate binder and it may possibly be an effective, less toxic, less expensive phosphate binder. We believe that the role of Mg in secondary hyperparathyroidism and vascular calcification merits further investigation.     

Cerebral fat embolism: Use of MR spectroscopy for accurate diagnosis

Cerebral fat embolism (CFE) is an uncommon but serious complication following orthopedic procedures. It usually presents with altered mental status, and can be a part of fat embolism syndrome (FES) if associated with cutaneous and respiratory manifestations. Because of the presence of other common factors affecting the mental status, particularly in the postoperative period, the diagnosis of CFE can be challenging. Magnetic resonance imaging (MRI) of brain typically shows multiple lesions distributed predominantly in the subcortical region, which appear as hyperintense lesions on T2 and diffusion weighted images. Although the location offers a clue, the MRI findings are not specific for CFE. Watershed infarcts, hypoxic encephalopathy, disseminated infections, demyelinating disorders, diffuse axonal injury can also show similar changes on MRI of brain. The presence of fat in these hyperintense lesions, identified by MR spectroscopy as raised lipid peaks will help in accurate diagnosis of CFE. Normal brain tissue or conditions producing similar MRI changes will not show any lipid peak on MR spectroscopy. We present a case of CFE initially misdiagnosed as brain stem stroke based on clinical presentation and cranial computed tomography (CT) scan, and later, MR spectroscopy elucidated the accurate diagnosis.     

Management peculiarities of costovertebral hydatidosis

BackgroundCostovertebral hydatidosis is a rarely reported clinical and radiological entity, estimated at less than 1% of thoracic hydatid locations. Its management is still not codified.ObjectiveThe aim of our study was to specify the management peculiarities of costovertebral hydatidosis.MethodsBetween January 2000 and December 2018, 14 patients were managed for costovertebral hydatidosis in a thoracic surgery department.ResultsThe mean age of our patients was 48 years. The history of a prior hydatid disease was found in 7 patients. Imaging features were suggestive in 13 cases. They showed: involvement of the spinal canal (6 cases), of the soft tissues (5 cases) and spinal cord compression (3 cases). Costovertebral resection of the hydatid lesions was complete in 12 cases. Four patients presented postoperative complications.ConclusionCostovertebral hydatid involvement, may threaten the functional and vital prognosis. Therefore, early diagnosis and management are mandatory, before the occurrence of irreversible neurological impairment. Surgical resection remains the treatment of choice and must be complete whenever possible. Relapse is frequent, hence the importance of a regular follow-up.