<abstract><title style='display:none'>Abstract</title>MODY (Maturity Onset Diabetes of the Young) is a type of diabetes resulting from a pathogenic effect of gene mutations. Up to date, 13 MODY genes are known. Gene HNF1A is one of the most common causes of MODY diabetes (HNF1A-MODY; MODY3). This gene is polymorphic and more than 1200 pathogenic and non-pathogenic HNF1A variants were described in its UTRs, exons and introns. For HNF1A-MODY, not just gene but also phenotype heterogeneity is typical. Although there are some clinical instructions, HNF1A-MODY patients often do not meet every diagnostic criteria or they are still misdiagnosed as type 1 and type 2 diabetics. There is a constant effort to find suitable biomarkers to help with in distinguishing of MODY3 from Type 1 Diabetes (T1D) and Type 2 Diabetes (T2D). DNA sequencing is still necessary for unambiguous confirmation of clinical suspicion of MODY. NGS (Next Generation Sequencing) methods brought discoveries of multiple new gene variants and new instructions for their pathogenicity classification were required. The most actual problem is classification of variants with uncertain significance (VUS) which is a stumbling-block for clinical interpretation. Since MODY is a hereditary disease, DNA analysis of family members is helpful or even crucial. This review is updated summary about HNF1A-MODY genetics, pathophysiology, clinics functional studies and variant classification.</abstract>

Novel insights into genetics and clinics of the HNF1A-MODY

<abstract><title style='display:none'>Abstract</title>Pheochromocytomas are rare tumors originating in the adrenal medulla. They may be sporadic or in the context of a hereditary syndrome. A considerable number of pheochromocytomas carry germline or somatic gene mutations, which are inherited in the autosomal dominant way. All patients should undergo genetic testing. Symptoms are due to catecholamines over production or to a mass effect. Diagnosis is confirmed by raised plasma or urine metanephrines or normetanephrines. Radiology assists in the tumor location and any local invasion or metastasis. All the patients should have preoperative preparation with α-blockers and/or other medications to control hypertension, arrhythmia, and volume expansion. Surgery is the definitive treatment. Follow up should be life-long.</abstract>

Pheochromocytoma

<abstract><title style='display:none'>Abstract</title> The maintenance of the body weight at a stable level is a major determinant in keeping the higher animals and mammals survive. Th e body weight depends on the balance between the energy intake and energy expenditure. Increased food intake over the energy expenditure of prolonged time period results in an obesity. Th e obesity has become an important worldwide health problem, even at low levels. The obesity has an evil effect on the health and is associated with a shorter life expectancy. A complex of central and peripheral physiological signals is involved in the control of the food intake. Centrally, the food intake is controlled by the hypothalamus, the brainstem, and endocannabinoids and peripherally by the satiety and adiposity signals. Comprehension of the signals that control food intake and energy balance may open a new therapeutic approaches directed against the obesity and its associated complications, as is the insulin resistance and others. In conclusion, the present review summarizes the current knowledge about the complex system of the peripheral and central regulatory mechanisms of food intake and their potential therapeutic implications in the treatment of obesity.</abstract>

Physiology Department, Faculty of Medicine, MAHSA University, Malaysia

Physiology Department, Faculty of Medicine, Minia University,

Central and peripheral control of food intake

<abstract><title style='display:none'>Abstract</title><bold>Objective.</bold> We conducted an extensive review of the literature and tried to cite the most recent recommendations concerning the pheochromocytoma (PHEO).<bold>Methods.</bold> Pub Med and Google Scholar databases were searched systematically for studies concerning pheochromocytomas (intra-adrenal paragangliomas) from 1980 until 2016. Bibliographies were searched to find additional articles.<bold>Results.</bold> More than four times elevation of plasma fractionated metanephrines or elevated 24-h urinary fractionated metanephrines are keys to diagnosing pheochromocytoma. If the results are equivocal then we perform the clonidine test. If we have not done it already, we preferably do a CT scan and/or an MRI scan. The patient needs pre-treatment with α1-blockers at least 10–14 days before operation. Alternatives or sometimes adjuncts are Calcium Channels Blockers and/or β-Blockers. Several familial syndromes are associated with PHEO and genetic testing should be considered.<bold>Conclusions.</bold> The biggest problem for pheochromocytoma is to suspect it in the first place. Elevated metanephrines establish the diagnosis. With the proper preoperative preparation the risks during operation and the postoperative period are minimal. If there is a risk of the hereditable mutation, it is strongly suggested that all the patients with pheochromocytoma need clinical genetic testing.</abstract>

Pheochromocytoma, diagnosis and treatment: Review of the literature

<abstract>
<title style='display:none'>Abstract</title>
Polycystic ovary syndrome (PCOS) is the most common endocrine disorder in women associated with cardiovascular disease and obesity. The possible benefits of omega-3 supplementation in this syndrome have been discussed much. This study is aimed to verify, based on the scientific data published, if there are any benefits in the omega-3 supplementation in the treatment of PCOS and to indicate its possible dosages for the treatment of polycystic ovary. The work consists of a systematic review of clinical trials and cohort of the MEDLINE/PubMed database from 2009 to October 2019. All studies that analyzed the omega-3 supplementation in women with PCOS were included. Cross-sectional studies, review articles, systematic reviews, meta-analysis, duplicates, studies in animals or cell culture, studies with omega-3 supplementation via food or associated with other supplementations were not included, except those involving vitamin E. In total, 21 articles were selected. Despite the heterogeneity of the studies selected, indirect benefits were observed mainly regarding the glycemic profile, such as insulin resistance reduction, lipid profile modulation (i.e. decrease in total cholesterol, triglycerides, and elevation of high-density lipoprotein), and the regulation of the androgenic profile. As for the anthropometric profile, the studies were scarce and most of them had no significant meaning. Regarding the antioxidant profile and inflammatory biomarkers, the findings differ among studies, but promising results were observed with different doses over 12 weeks of use, such as C-reactive protein (CRP) reduction. Thus, omega-3 fatty acids promote indirect benefits in the treating of women with PCOS. However, to reveal well-defined standards for dosage and supplementation time, further studies are needed.
</abstract>

Omega-3 supplementation in the treatment of polycystic ovary syndrome (PCOS) – a review of clinical trials and cohort

<abstract><title style='display:none'>Abstract</title><bold>Objective.</bold> There is no reliable treatment for men with idiopathic infertility, but the relationship between severe sperm production and the ratio of estrogen to testosterone levels has been shown. Aromatase is an enzyme that plays an important role in converting testosterone to estradiol and androstenedione to estrogen. Aromatase inhibitors can increase testosterone and androgen production without increasing the amount of estrogen in circulation. The aim of this study was to evaluate the effect of aromatase inhibitor letrozole on the male infertility.<bold>Method.</bold> This pre- and post-quasi-experimental clinical trial was carried out on 41 men with an infertility diagnosis. The basic hormonal profile included FSH, LH, testosterone, and estradiol. The ratio of testosterone to serum estradiol was also calculated and recorded. The sperm analysis was performed before the treatment and the seminal parameters were evaluated and recorded. Patients were then treated with letrozole 2.5 mg daily for 4 months. At the end of 4th months, the hormonal profile was studied and seminal analysis performed and recorded.<bold>Results.</bold> The levels of FSH, LH, testosterone, and estradiol, and the ratio of testosterone to estradiol increased significantly after letrozole treatment. The sperm concentration, sperm motility, and sperm forward motion significantly increased after letrozole treatment. Sperm morphology only lightly altered.<bold>Conclusion.</bold> The ratio of testosterone to estradiol levels in infertile men treated with aromatase inhibitor improved and caused changes in sperm parameters. Letrozole may be used to improve sperm parameters in infertile men with low serum testosterone to estradiol ratio.</abstract>

Effect of letrozole on spermogram parameters and hormonal profile in infertile men: A clinical trial study

<abstract>
<title style='display:none'>Abstract</title>
<bold>Objective.</bold> Glucose and glutamine supply as well as serine synthesis and endoplasmic reticulum (ER) stress are important factors of glioblastoma growth. Previous studies showed that the knockdown of ERN1 (ER to nucleus signaling 1) suppressed glioblastoma cell proliferation and modified the sensitivity of numerous gene expressions to nutrient deprivations. The present study is aimed to investigate the impact of glucose and glutamine deprivations on the expression of serine synthesis genes in U87MG glioblastoma cells in relation to ERN1 knockdown with the intent to reveal the role of ERN1 signaling pathway on the ER stress-dependent regulation of these gene expressions. Clarification of the regulatory mechanisms of serine synthesis is a great significance for glioblastoma therapy.
<bold>Methods.</bold> The control U87MG glioblastoma cells (transfected by empty vector) and ERN1 knockdown cells (transfected by dominant-negative ERN1) were exposed under glucose and glutamine deprivation conditions for 16 h. RNA was extracted from cells and reverse transcribed. The expression level of <italic>PHGDH</italic> (phosphoglycerate dehydrogenase), <italic>PSAT1</italic> (phosphoserine amino-transferase 1), <italic>PSPH</italic> (phosphoserine phosphatase), <italic>ATF4</italic> (activating transcription factor 4), and <italic>SHMT1</italic> (serine hydroxymethyltransferase 1) genes was studied by real-time qPCR and normalized to ACTB.
<bold>Results.</bold> It was found that the expression level of genes responsible for serine synthesis such as <italic>PHGDH</italic>, <italic>PSAT1</italic>, <italic>PSPH</italic>, and transcription factor <italic>ATF4</italic> was up-regulated in U87MG glioblastoma cells under glucose and glutamine deprivations. Furthermore, inhibition of ERN1 significantly enhances the impact of glucose and especially glutamine deprivations on these gene expressions. At the same time, the expression of the <italic>SHMT1</italic> gene, which is responsible for serine conversion to glycine, was down-regulated in both nutrient deprivation conditions with more significant changes in ERN1 knockdown glioblastoma cells.
<bold>Conclusion.</bold> Taken together, the results of present study indicate that the expression of genes responsible for serine synthesis is sensitive to glucose and glutamine deprivations in gene-specific manner and that suppression of ERN1 signaling significantly modifies the impact of both glucose and glutamine deprivations on <italic>PHGDH</italic>, <italic>PSAT1</italic>, <italic>PSPH</italic>, <italic>ATF4</italic>, and <italic>SHMT1</italic> gene expressions and reflects the ERN1-mediated genome reprograming introduced by nutrient deprivation condition.
</abstract>

Inhibition of signaling protein ERN1 increases the sensitivity of serine synthesis gene expressions to glucose and glutamine deprivations in U87MG glioblastoma cells

<abstract>
<title style='display:none'>Abstract</title>
<bold>Objective.</bold> Abnormal lipid profile and obesity increase the risk of polycystic ovary syndrome (PCOS). PCOS patients may have a greater risk of infertility, metabolic syndrome (MetS) and cardiovascular disease (CVD) due to abnormal lipid profile and obesity. The aim of the study was to find the association between abnormal lipid profile and obesity in patients with PCOS.
<bold>Methods.</bold> In this case-control study, a total of 102 female subjects (51 diagnosed PCOS and 51 age-matched healthy controls) were enrolled, aged between 20–40 years. Biochemical parameters such as total cholesterol (TC), triglycerides (TG), low-density lipoprotein-cholesterol (LDL-C), high-density lipoprotein-cholesterol (HDL-C), very low-density lipoprotein-cholesterol (VLDL-C), luteinizing hormone (LH), and follicle-stimulating hormone (FSH) were estimated. Anthropometric parameters such as body mass index (BMI), waist circumference (WC), hip circumference (HC), and waist-to-hip ratio (WHR) were recorded. A p&lt;0.05 was considered statistically significant.
<bold>Results.</bold> Mean of BMI, WC, WHR, LH, FSH, TC, TG, LDL-C, and VLDL-C was found significantly elevated in patients with PCOS as compared to controls (p&lt;0.01). However, the mean of HDL-C was found significantly reduced in patients with PCOS as compared to controls (p&lt;0.01). BMI has shown a significant positive correlation with WC (r=0.562, p&lt;0.01) and WHR (r=0.580, p&lt;0.01) among PCOS patients. LH has shown a significant positive correlation with FSH (r=0.572, p&lt;0.01) among PCOS patients. TC has shown a significant positive correlation with TG (r=0.687, p&lt;0.01), LDL-C (r=0.917, p&lt;0.01), and VLDL-C (r=0.726, p&lt;0.01) among PCOS patients.
<bold>Conclusion.</bold> The results showed that abnormal lipid profile and obesity have a significant association with PCOS patients. Regular monitoring and treatment of PCOS patients are required to reduce the risk of infertility, MetS, and CVD.
</abstract>

Association of lipid profile and obesity in patients with polycystic ovary syndrome

<abstract>
<title style='display:none'>Abstract</title>
Oxytocin plays an important role in brain development and is associated with various neurotransmitter systems in the brain. Abnormalities in the production, secretion, and distribution of oxytocin in the brain, at least during some stages of the development, are critical for the pathogenesis of neuropsychiatric diseases, particularly in the autism spectrum disorder. The etiology of autism includes changes in local sensory and dopaminergic areas of the brain, which are also supplied by the hypothalamic sources of oxytocin. It is very important to understand their mutual relationship. In this review, the relationship of oxytocin with several components of the dopaminergic system, gamma-aminobutyric acid (GABA) inhibitory neurotransmission and their alterations in the autism spectrum disorder is discussed. Special attention has been paid to the results describing a reduced expression of inhibitory GABAergic markers in the brain in the context of dopaminergic areas in various models of autism. It is presumed that the altered GABAergic neurotransmission, due to the absence or dysfunction of oxytocin at certain developmental stages, disinhibits the dopaminergic signaling and contributes to the autism symptoms.
</abstract>

Oxytocin, GABA, and dopamine interplay in autism

<abstract>
<title style='display:none'>Abstract</title>
Diabetes mellitus type 3 refers to diabetes secondary to an existing disease or condition of the exocrine pancreas and is an uncommon cause of diabetes occurring due to pancreatogenic pathology. It accounts for 15–20% of diabetic patients in Indian and Southeast Asian continents. This is case report of a rare case of type 3 diabetes mellitus (T3DM) presenting with diabetic ketoacidosis (DKA). The patient was admitted for DKA along with complaint of hyperglycemia, blood glucose of 405 mg/dl with HbA1c level of 13.7%. Computed tomography evidence revealed chronic calcific pancreatitis with intraductal calculi and dilated pancreatic duct.
</abstract>

Persistent chronic calcific pancreatitis with intraductal calculi associated with secondary diabetes mellitus type 3 and diabetic ketoacidosis – A case report

<abstract><title style='display:none'>Abstract</title>
<sec><title style='display:none'>Objective.</title>
The objective of the study was to determine if there would be statistically significant differences or trends among apolipoprotein E genotypes (2/2, 2/3, 2/4, 3/3, 3/4, and 4/4) for each member of the cluster of seven associated with type 2 diabetes (T2D). The cluster of seven includes abdominal obesity, hypertension, platelet hyperaggregability, hyperglycemia, dyslipidemia (decreased plasma levels of high-density lipoprotein cholesterol (HDL-C) and increased plasma levels of triglycerides)), increased low-density lipoprotein (LDL) oxidation, and increased inflammation.
</sec>
<sec><title style='display:none'>Methods.</title>
Forty-six patients with well-controlled T2D participated in the study. Abdominal obesity (assessed by waist circumference), hypertension (measured by manual sphygmomanometry), platelet hyperaggregability (measured by bleeding time), hyperglycemia (by enzymatic kit and spectrophotometry), decreased plasma levels of HDL-C and increased plasma levels of triglycerides (by enzymatic kit and spectrophotometry), increased LDL oxidation (measured by LDL conjugated dienes using spectrophotometry) and increased inflammation measured by C-reactive protein (CRP) (by EIA kit) were determined.
</sec>
<sec><title style='display:none'>Results. </title>
All genotypes, except 2/2 were found in the population studied. Abdominal obesity did not vary significantly across the five genotypes. However, glucose levels trended progressively higher going from 2/3 to 2/4 to 3/4 to 4/4. Systolic blood pressure was higher in 3/4 compared to 2/4 and trended higher in 3/4 compared to 3/3. Diastolic blood pressure trended higher in 3/3 vs 2/4 and significantly higher in 3/4 compared to 2/4. Triglycerides trended higher in 3/4 vs 3/3 while HDL-C came close to trending downward in 4/4 compared to 2/4. Bleeding time was unaffected by genotype. Plasma LDL conjugated dienes trended higher in 3/4 vs 2/4 and were significantly higher in 3/4 vs 3/3. CRP trended higher in 4/4 vs 2/3.
</sec>
<sec><title style='display:none'>Conclusion.</title>
We can conclude that those with at least one 4 allele in the presence of another allele being 2, 3 or 4 is potentially (in the case of trends) deleterious or is deleterious in terms of hyperglycemia, hypertension (systolic and diastolic blood pressure), dyslipidemia, LDL conjugated dienes and CRP levels.
</sec>
</abstract>

Relationships of apolipoprotein E genotypes with a cluster of seven in persons with type 2 diabetes

<abstract><title style='display:none'>Abstract</title>
Advanced glycation end products (AGEs) are a diverse group of compounds that are formed as a result of the non-enzymatic reaction between a reducing sugar such as glucose and the free NH2 groups of an amino acid in a protein or other biomolecule. The chemical reaction, by which these products are generated, is known as the Maillard reaction and occurs as a part of the body’s normal metabolism. Such a reaction is enhanced during diabetes due to hyperglycemia, but it can also occur during the preparation, processing, and preservation of certain foods. Therefore, AGEs can also be obtained from the diet (d-AGE) and contribute to an increase of the total serum pool of these compounds. They have been implicated in a wide variety of pathological processes, mainly because of their ability to induce inflammatory responses and oxidative stress increase. They are extensively accumulated as a part of the normal aging, especially in tissues rich in long half-life proteins, which can compromise the physiology of these tissues. d-AGEs are abundant in diets rich in processed fats and sugars. This review is addressed to the current knowledge on these products and their impact on the immunomodulation of various mechanisms that may contribute to exacerbation of the diabetes pathophysiology.
</abstract>

Advanced glycation end products of dietary origin and their association with inflammation in diabetes – A minireview

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