Gemigliptin: Newer Promising Gliptin for Type 2 Diabetes Mellitus.

The dipeptidyl peptidase-4 (DPP-4) inhibitors have facilitated the management of type 2 diabetes mellitus (T2DM) owing to their superior efficacy and safety with low incidence of adverse effects. Gemigliptin is a new member of this family of drugs, and studies have revealed certain advantages of gemigliptin use compared to its previous congeners. Besides, this drug has also been studied for the treatment of T2DM as monotherapy, in combination with metformin or other oral antidiabetic drugs and in T2DM with moderate-to-severe renal failure. In this review, we explore the published data highlighting the pharmacology, efficacy, and safety of gemigliptin along with its recommendations for use in patients with T2DM.

Van Wyk-Grumbach Syndrome with Kocher-Debré-Sémélaigne Syndrome: Case Report of a Rare Association.

BACKGROUND: Van Wyk-Grumbach syndrome (VWGS) is a rare presentation of juvenile hypothyroidism which manifests in females as chronic autoimmune hypothyroidism, isosexual pseudoprecocious puberty, and multicystic ovaries. It uniquely presents with short stature and delayed bone age unlike other causes of precocious puberty. Kocher-Debré-Sémélaigne (KDSS) is a rare presentation of juvenile hypothyroidism manifesting as calf muscle pseudohypertrophy, delayed contraction and relaxation of reflexes, and percussion myxedema. OBJECTIVES: To diagnose the rare association of VWGS and KDSS and to conduct a follow-up of the patient on replacement therapy. METHODS: We present a case of a 9-year-old female child who presented to the endocrine department with complaints of intermittent vaginal bleeding, short stature, and difficulty in walking. On evaluation she was found to be having autoimmune hypothyroidism, FSH-dominated isosexual pseudoprecocious puberty, delayed bone age, secondary pituitary macroadenoma, delayed relaxation of deep tendon reflexes, and pseudohypertrophy of calf muscles. The diagnosis of VWGS associated with KDSS was made. The patient was initially put on 25 µg thyroxine replacement, which was titrated accordingly, and was followed up after 6 months and 1 year. RESULTS: All the features of the syndrome improved after 12 months of adequate thyroxine replacement. CONCLUSIONS: VWGS and KDSS are rare presentations of juvenile hypothyroidism, and their association is even rarer. Early diagnosis and prompt replacement therapy can avoid unnecessary investigations and surgical interventions.

Thyroid functions and serum lipid profile in metabolic syndrome.

BACKGROUND: Thyroid hormones are known to affect energy metabolism. Many patients of metabolic syndrome have subclinical or clinical hypothyroidism and vice versa. To study the correlation of thyroid profile and serum lipid profile with metabolic syndrome. METHOD: It is a hospital based cross sectional case-control study carried out in tertiary care health center, we studied thyroid functions test and serum lipid profile in 100 metabolic syndrome patients according to IDF criteria and a similar number of age, gender and ethnicity matched healthy controls. RESULT: We found that serum HDL was significantly lower (p < 0.001) in cases (41.28 ± 8.81) as compared to controls (54.00 ± 6.31). It was also found that serum LDL, VLDL, triglyceride levels and total cholesterol were found to be significantly higher (p < 0.001) in cases than controls. Serum TSH levels of subjects in cases group (3.33 ± 0.78) were significantly higher (p < 0.001) than that of controls (2.30 ± 0.91) and significantly lower levels of T4 (p < 0.001) in the patients of metabolic syndrome (117.45) than in controls (134.64) while higher levels of T3, although statistically insignificant in the patients of metabolic syndrome. CONCLUSION: Thyroid hormones up-regulate metabolic pathways relevant to resting energy expenditure, hence, obesity and thyroid functions are often correlated.

Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES) Type 1 in an Indian Family.

Blepharophimosis ptosis epicanthus inversus (BPES) is a relatively rare congenital disorder, which usually presents with classical eye manifestations. In some cases, it is associated with premature ovarian failure (POF). BPES is of two types, type I and type II. Type I is associated with POF along with eyelid malformations, while Type 2 has only eyelid malformations. Here, we report a family of BPES, in whom two sisters presented with secondary amenorrhea. On eye examination, they have blepharophimosis, ptosis, epicanthus inversus and telecanthus. Investigations revealed hypergonadotropic hypogonadism. Their father also has similar eye manifestations. Diagnosis of BPES type I was made and both were started on hormone replacement therapy. To make timely diagnosis of BPES, every patient with POF should specifically be checked for eye manifestations.

Cerebrotendinous xanthomatosis (a rare lipid storage disorder): a case report.

BACKGROUND: Cerebrotendinous xanthomatosis is a very rare autosomal recessive lipid storage disorder affecting bile acid biosynthesis. It is manifested by subtle neurological and non-neurological symptoms due to abnormal tissue lipid deposition. Diagnosis is usually delayed but early diagnosis and replacement therapy can prevent devastating neurological sequelae. CASE PRESENTATION: We present a case of a 25-year-old Asian Indian woman who presented with gait difficulty, fusiform swellings of bilateral tendo-Achilles and infrapatellar tendons, along with history of bilateral cataract surgery 1 year earlier. The diagnosis was made on the basis of clinical, biochemical, imaging, and histopathological analysis and replacement therapy was started. CONCLUSIONS: The peculiarity of the present case is the absence of any neurological manifestations which are usually the early clues to the diagnosis of cerebrotendinous xanthomatosis. The present case report emphasizes the fact that early age bilateral cataracts along with bilateral tendo-Achilles xanthomas can be early pointers toward the diagnosis of cerebrotendinous xanthomatosis.

Study on Diastolic Dysfunction in Newly Diagnosed Type 2 Diabetes Mellitus and its Correlation with Glycosylated Haemoglobin (HbA1C).

INTRODUCTION: Left ventricular diastolic dysfunction (LVDD) represents the first stage of diabetic cardiomyopathy preceding changes in systolic function, reinforcing the importance of early examination of ventricular function in individuals with diabetes mellitus (DM). This cross-sectional study was conducted to determine the incidence of asymptomatic LVDD in newly diagnosed normotensive cases of type 2 diabetes subjects, and its relation to glycosylated haemoglobin (HbA1C), age at the time of diagnosis, body mass index (BMI) and serum total cholesterol. AIM AND OBJECTIVE: To study the incidence of left ventricular diastolic dysfunction (LVDD) and its correlation with HbA1C in normotensive, newly diagnosed type 2 diabetic patients. MATERIALS AND METHODS: This cross-sectional study was done in western U.P. on 100 patients of newly diagnosed (within 1 month) type 2 DM between patients 30 and 60 years of age, visiting the Medicine and Endocrinology outpatient Department of LLRM Medical College, Meerut. Patients with established type 2 diabetes and already taking antidiabetic treatment, cardiac diseases like valvular heart disease, ischemic and hypertensive heart disease, congestive heart failure, cardiomyopathy, renal failure, chronic pulmonary disease, severe anaemia and haemoglobinopathies were excluded from the study. These patients were informed about the study and informed consent was obtained before proceeding with the investigations. Patients selected were evaluated with relevant investigations like fasting and post prandial blood sugar, HbA1C level, lipid profile and 2D echocardiography to assess LVDD. These selected patients were divided in 2 groups; one with left ventricular diastolic dysfunction (LVDD) and second group of subjects without LVDD. Various parameters like HbA1C, age, body mass index and serum cholesterol were evaluated between these 2 groups. Statistical analysis was performed using Student t-test, Chi-square and Fisher Exact-test. RESULTS: Out of 100 patients 65 were males and 35 females. Mean age of the population was 50.08 ± 6.32 years. Overall incidence of LVDD was 41%. Grade 1 LVDD was most common. Mean HbA1C level of LVDD group was found higher as compared to those without LVDD. CONCLUSION: LVDD is very common at the time of diagnosis of type 2 DM even in normotensive patients independent of confounding effect of hypertension, ischemia and BMI. HbA1C and age, were found to be strong indicators of LVDD in newly diagnosed cases of Type 2 DM.

Assessment of insulin sensitivity/resistance.

Insulin resistance is one pretty troublesome entity which very commonly aggravates metabolic syndrome. Many methods and indices are available for the estimation of insulin resistance. It is essential to test and validate their reliability before they can be used as an investigation in patients. At present, hyperinsulinemic euglycemic clamp and intravenous glucose tolerance test are the most reliable methods available for estimating insulin resistance and are being used as a reference standard. Some simple methods, from which indices can be derived, have been validated e.g. homeostasis model assessment (HOMA), quantitative insulin sensitivity check index (QUICKI). For the clinical uses HOMA-insulin resistance, QUIKI, and Matsuda are suitable, while HES, McAuley, Belfiore, Cederholm, Avignon and Stumvoll index are suitable for epidemiological/research purposes. With increasing number of these available indices of IR, it may be difficult for clinicians to select the most appropriate index for their studies. This review provides guidelines that must be considered before performing such studies.

Diabetes mellitus: Trends in northern India.

Diabetes mellitus is becoming a global health issue with more than 80% diabetics living in developing countries. India accounts for 62.4 million diabetics (2011). Indian Council of Medical Research India Diabetes Study (ICMR-INDIAB) study showed highest weighted prevalence rate in the north India among all studied regions. Diabetes in north India has many peculiarities in all aspects from risk factors to control programmers. North Indians are becoming more prone for diabetes and dyslipidemia because rapid westernization of living style and diet due rapid migration to metropolitan cities for employment. North Indian diabetes is plagued with gender bias against females, poor quality of health services, myths, and lack of disease awareness compounded with small number of prevention and awareness programmers that too are immature to counteract the growing pandemic.

Pituitary stalk interruption syndrome: Case report of three cases with review of literature.

Pickardt syndrome (Pickardt-Fahlbusch syndrome) is a rare congenital syndrome characterized by tertiary hypothyroidism caused by the interruption of the portal veins between hypothalamus and adenohypophysis. Typical features of this syndrome are tertiary hypothyroidism with low thyroid stimulating hormone, hyperprolactinemia and other pituitary hormone deficiencies. Pituitary stalk interruption syndrome is characterized by a triad of thin or interrupted pituitary stalk, aplasia or hypoplasia of the anterior pituitary and absent or ectopic posterior pituitary (EPP) seen on magnetic resonance imaging (MRI). It is a congenital anomaly of pituitary whose exact prevalence is unknown. In some cases, it is restricted to EPP or pituitary stalk interruption. We are presenting the case history along with MRI finding of three children's who presented with short stature and delayed puberty.