What is Genomic Imprinting?
Discussion Silver-Russell syndrome (SRS) is a rare genetic syndrome first characterized by Silver in 1953 and Russell in 1954. Patients with SRS have characteristic growth patterns and clinical findings, although within an individual patient there are phenotypical differences. Patients are born small-for-gestational age (SGA) but have a relative macrocephaly. There is postnatal growth failure and difficulty feeding, with a very low body mass index. Body asymmetry (e.g. hemihypertrophy) and facial features (i.e. protruding forehead, triangular facies, micrognathia, dental anomalies, downturned mouth corners, and ear anomalies) are characteristic features. Patients need multidisciplinary specialist care. SGA and feeding difficulties make patients often difficult to manage. Patients have lower muscle mass and excess calories quickly go to excess fat mass if patients are overfed. Gastroenterology, nutrition, speech therapy and psychology often manage these problems. Short stature can be marked (
We report a unique case of FS presenting initially with primary amenorrhea at 16 years, without previous or concomitant renal damage. Only subsequently she developed an extremely late-onset nephropathy. Genetic analysis revealed the IVS9 + 5 G>A mutation in intron 9 of the WT1 gene. This clinical presentation and review of WT1 literature highlights the importance of considering FS in the differential diagnosis of patients with 46,XY disorders of Sexual development, even without nephropathy. Furthermore, the identification WT1 gene mutation prior to evident renal dysfunction indicates an immediate and close surveillance ...
Authors: Scheffer-Rath ME, Boot AM Abstract Vitamin D is important for skeletal growth, bone mineralization and dental health. Vitamin D deficiency is reported in many countries, may have several causes and can cause rickets in children. A guideline with recommendations of vitamin D supplementation to prevent nutritional rickets was published recently. The vitamin D receptor is present in many cells of the body including cells of the immune system. Many studies have been published on associations between vitamin D deficiency and extra skeletal effects, mainly without proof of causality in intervention studies. This...
Authors: Henry RK Abstract Glucose dysregulation (GD), a feature of growth hormone excess, in the setting of acromegaly is well known by clinicians. However, less well known is that GD may be a feature of growth hormone deficiency. The fact that either ends of the spectrum of growth hormone (excess or deficiency) can be associated with diabetes mellitus is unique and clinicians should especially recognize that impaired glucose tolerance and even diabetes mellitus may develop in individuals predisposed to having growth hormone deficiency. PMID: 32780951 [PubMed - in process]
Authors: Blumenfeld O, Hampe CS, Shulman L, Chen R, Laron Z Abstract Recent epidemiological surveys performed in Australia, USA and Israel demonstrate that Rotavirus vaccination correlates with an attenuated prevalence and/or incidence of early childhood diabetes (T1D). Other studies failed to confirm the above. PMID: 32780950 [PubMed - in process]
Publication date: 5 December 2020Source: Journal of Ethnopharmacology, Volume 263Author(s): Xiaoning Chen, Ravindran Kalathil Veena, Haridas Ramya, Kainoor Krishnankutty Janardhanan, Varughese George
Publication date: Available online 12 August 2020Source: Current Therapeutic ResearchAuthor(s): Tilahun Tewabe, Amare Belachew
Conclusions: There were significant differences with respect to clinical characteristics and comorbidity prevalence according to metformin use among Korean type 2 diabetes patients. Long-term follow-up of these patients is necessary to observe how this difference will affect clinical outcomes for these patients. PMID: 32774367 [PubMed]
Authors: Plunk EC, Richards SM Abstract The epigenome of an individual can be altered by endogenous hormones, environment, age, diet, and exposure to endocrine disrupting chemicals (EDCs), and the effects of these modifications can be seen across generations. Epigenetic modifications to the genome can alter the phenotype of the individual without altering the DNA sequence itself. Epigenetic modifications include DNA methylation, histone modification, and aberrant microRNA (miRNA) expression; they begin during germ cell development and embryogenesis and continue until death. Hormone modulation occurs during the agei...
Authors: Antinozzi C, Sgrò P, Di Luigi L Abstract Among metabolic diseases, carbohydrate metabolism disorders are the most widespread. The most common glucose pathological conditions are acquired and may increase the risk of type 2 diabetes, obesity, heart diseases, stroke, and kidney insufficiency. Phosphodiesterase type 5 inhibitors (PDE5i) have long been used as an effective therapeutic option for the treatment of erectile dysfunction (ED). Different studies have demonstrated that PDE5i, by sensitizing insulin target tissues to insulin, play an important role in controlling the action of insulin and gluco...
Conclusion: Our cumulative results suggested that hyperoside inhibits the proliferation of SV40-MES13 cells through the suppression of the ERK/CREB/miRNA-34a signaling pathway, which provides new insight to the current investigation on therapeutic strategies for diabetic nephropathy. PMID: 32774360 [PubMed]
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