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INTRODUCTION: Primary hyperparathyroidism (PHPT) is a common endocrine disease with a variable presentation. There is a recent increase in the number of asymptomatic cases due to the use of multichannel automated analyzers.
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Hiperparatireoidismo Primário , Humanos , Índia/epidemiologia , Estudos Retrospectivos , Hiperparatireoidismo Primário/epidemiologia , Hiperparatireoidismo Primário/diagnóstico , Feminino , Masculino , Pessoa de Meia-Idade , Doenças Assintomáticas , Adulto , Idoso , Hormônio Paratireóideo/sangueRESUMO
Context: Porcine sequence corticotropin (PSC) stimulation test (PSCST) is a reliable, cost-effective alternative to the short Synacthen test. Long-acting PSC is widely available as a 300 IU multidose vial (60 IU per 1 ml). Aims: To compare the efficacy of lower doses of PSC that can be given directly from the multidose vial without reconstitution, with standard dose in assessing the hypothalamic pituitary adrenal (HPA) axis in healthy individuals. Settings and Design: Prospective study comparing different doses of PSC. Methods and Material: In 13 healthy volunteers, serum Cortisol was estimated at 30 and 60 minutes after intramuscular administration of 24IU/250 µg standard dose (0.4 ml) and lower doses of PSC (18 IU/0.3 ml/;12 IU/0.2 ml; and 6 IU/0.1 ml), with a gap of 4 weeks between each dose. Statistical Analysis Used: Mean ± SD was used to express quantitative variables. ANOVA and paired T-test were used for statistical analysis. Results: The mean ± SD of peak Cortisol levels after PSCST with all doses of PSC were >18 ug/dl. The means of peak Cortisol responses to different doses of PSC among subjects were comparable. In a subject, there was no significant dose effect and interaction (dose x time) effect indicating that the different doses were comparable (both at 30 and 60 minutes) (p = 0.735). Conclusions: All tested lower doses of PSC obtained from the multidose vial without reconstitution, including the lowest dose (6 IU/62.5 µg) tested, were comparable in efficacy to the standard dose (24IU/250 µg) in assessing the adequacy of HPA axis in healthy individuals.
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Inadequate glycaemic control post-discharge is the root cause of readmission in people with diabetes mellitus (DM) and is often linked to improper discharge planning (DP). A structured DP plays a crucial role in ensuring continuing home care and avoiding readmissions. DP should help patients in self-care and provide appropriate guidance to maintain optimal glycaemic control. There is a scarcity of reports and recommendations on the proper DP for people with DM on insulin therapy. The present review provides important consideration based on experts' opinions from the National Insulin and Incretin summit (NIIS), focusing on the effective treatment strategies at the time of discharge, especially for insulin therapy. A review of literature from PubMed and Embase was conducted. The consensus was derived, and recommendations were made on effective DP for patients with DM. Recommendations were drawn at the NIIS for post-discharge treatment for medical and surgical cases, stress-induced hyperglycaemia, elderly, pregnant women, and coronavirus disease 2019 (COVID-19) cases. The committee also recommended a comprehensive checklist to assist the physicians during discharge.
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COVID-19 , Diabetes Mellitus , Hiperglicemia , Gravidez , Humanos , Feminino , Idoso , Alta do Paciente , Hiperglicemia/tratamento farmacológico , Assistência ao Convalescente , Pacientes Internados , Diabetes Mellitus/tratamento farmacológico , Insulina/uso terapêuticoRESUMO
BACKGROUND: SRD5A2 deficiency leads to incomplete masculinization of individuals with a 46 XY karyotype. A definitive diagnosis in early infancy facilitates decisions concerning choice of sex of rearing and management. AIM: To review the clinical presentation, diagnosis, treatment and outcome of children with 46 XY DSD due to SRD5A2 deficiency at a Paediatric Gender Clinic. STUDY DESIGN AND METHODS: Retrospective review of cases of SRD5A2 deficiency (2000-15) managed with a standard protocol at a multidisciplinary clinic. Demographic data, clinical presentation, physical findings, investigations (hormonal profile, imaging, genitoscopy), psychological evaluation (child, family), medical and surgical management, outcome and follow up were collated and analyzed. RESULTS: There were 12 cases aged 3 days-14 years at presentation, 3 had parental consanguinity. Eight were reared as males and 4 as females. Specialist referral was sought for hypospadias (5), atypical genitalia (5) or incongruent pubertal masculinization (2). All had chordee, symmetrical inguinoscrotal gonads, rugose labioscrotum and proximal hypospadias (perineoscrotal -9, perineal -3). Both pubertal cases had significant masculinization and no gynecomastia. The median testosterone/dihydrotestosterone ratio was 22.1(IQR-8.6-55.7). Despite a classical phenotype, four (2 prepubertal, 2 pubertal) had a ratio <10. Genitoscopy showed urogenital sinus remnant (4) and hypoplastic verumontanum (5). Sex reassignment was done in 4. Surgical management was staged and completed by 4 years in those with infantile presentation. Besides correction of chordee and urethroplasty in 11, other procedures included orchidopexy (5), excision of a urogenital sinus remnant (4) and correction of penoscrotal transposition (4). The urethroplasty was single staged in 3. All operated cases were followed up (mean age at last follow up - 10.63 years, mean follow up period - 7.25 years). The overall cosmetic result was satisfactory, but the phallic structure remained relatively small across prepubertal period. Uroflowmetry curves were normal in 9. All showed penile tumescence/erection and two peripubertal cases had typical secondary sexual characters. All cases, including those with sex reassignment, have a well-adjusted male psyche. DISCUSSION AND CONCLUSION: The diagnosis, management and longitudinal follow up of cases of SRD5A2 deficiency at a multidisciplinary gender clinic is presented. Diagnostic dilemmas with low T/DHT ratios remained in a third of cases. Most were diagnosed in infancy and assigned a male sex of rearing, all underwent staged masculinizing genitoplasty. Those with sex reassignment also fared well with comprehensive management after family counseling.
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Transtornos do Desenvolvimento Sexual , Hipospadia , Humanos , Feminino , Masculino , Hipospadia/genética , Desenvolvimento Sexual , Transtornos do Desenvolvimento Sexual/diagnóstico , Transtornos do Desenvolvimento Sexual/genética , Transtornos do Desenvolvimento Sexual/cirurgia , Identidade de Gênero , Pênis , Virilismo , Proteínas de Membrana , 3-Oxo-5-alfa-Esteroide 4-Desidrogenase/genéticaRESUMO
INTRODUCTION: This systematic review aims to present the current evidence base with respect to the initiation and intensification of insulin therapy with glargine 100 U/mL (Gla-100) compared to other insulins in people with type 2 diabetes mellitus (T2DM). METHODS: A systematic literature search of PubMed (MEDLINE), EMBASE, and the Cochrane Central Register of controlled clinical trials databases was performed to identify studies published up to September 30, 2020 that compared the effects of Gla-100 to that of other insulin regimens in people with T2DM. Relevant information pertaining to the predefined outcomes of interest was extracted. Glycated hemoglobin (HbA1c) change and response rates along with overall hypoglycemia incidence were the primary efficacy and safety outcomes of interest. RESULTS: Seventy-nine studies (63 interventional and 16 non-interventional) in which Gla-100 was either initiated in previously insulin-naïve patients (n = 57) or used in an intensified regimen (n = 22) were identified and evaluated. In insulin-naïve patients, most studies demonstrated that Gla-100 was significantly better compared with premixed insulins and similar compared with neutral protamine Hagedorn (NPH) insulin, second-generation basal insulins, co-formulations, and other first-generation basal insulins in terms of the primary efficacy parameters. Overall hypoglycemia risk with Gla-100 was significantly lower compared with NPH, premixed, coformulation, and other first-generation basal insulins and significantly higher compared with second-generation basal insulins. In studies with intensified regimens, efficacy outcomes with Gla-100 were significantly better compared with insulin detemir (IDet); similar compared with NPH, second-generation basal insulins, co-formulations; and with premixed insulins. In these studies, overall hypoglycemia risk with Gla-100 was significantly lower compared with IDet and comparable to NPH, premixed insulins, co-formulations, and second-generation basal insulins. In addition, most intensification studies also revealed a significantly lower risk of nocturnal hypoglycemia with Gla-100-based regimens versus NPH and premixed insulins and a significantly greater risk compared to second-generation basal insulins. CONCLUSIONS: The evidence presented in this review suggests that Gla-100 is an effective option for both insulin initiation and intensification strategies used in the management of T2DM.
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BACKGROUND AND AIMS: Diabetic foot ulcer (DFU) is a debilitating complication of type 2 DM. Complexity of foot examination often precludes proper clinical assessment of the foot during routine evaluation. We assessed the utility of novel device, vibratip, both singly and in combination with standard bedside tools for assessment of loss of protective sensation. METHODS: 75 patients admitted with DFU were included in the study. Clinical examination of the contralateral foot was done - temperature perception, vibration, pinprick sensation, Achilles tendon reflex and Neuropathy disability score were assessed. Testing using 10 g Monofilament, Vibratip and biothesiometer were also done. Considering the biothesiometer as the reference standard, three bedside tests (Vibratip, 10 g monofilament and 128 Hz tuning fork) were compared against it singly and in combinations. RESULTS: When compared against biothesiometer, vibratip performed significantly well with a positive predictive value of 90.3% and specificity of 84.2%. Sensitivity, however, was only 50%. On combining bedside tests, the best combination strategy was seen with vibratip and 10 g monofilament, which improved the sensitivity to 62.5%. Combining all three bedside tests further improved sensitivity to 64.3%. CONCLUSION: All the patients with an at-risk foot may not be identified with vibratip alone. Nevertheless, an abnormal result is almost always associated with loss of protective sensation, and such persons should be suitably educated. LIMITATIONS: Due to small size of the study population, it is not possible to generalize the findings to all patients with diabetes mellitus. A larger study would be required to provide more confirmatory findings.
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Diabetes Mellitus Tipo 1/complicações , Diabetes Mellitus Tipo 2/complicações , Pé Diabético/diagnóstico , Neuropatias Diabéticas/diagnóstico , Sensação , Vibração , Pé Diabético/etiologia , Neuropatias Diabéticas/etiologia , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , PrognósticoRESUMO
BACKGROUND: The primary aim of treating congenital adrenal hyperplasia (CAH) due to 21 hydroxylase deficiency is to replace the deficient glucocorticoids and mineralocorticoids, to minimize the excess androgen production and to facilitate normal growth. Children with CAH require daily treatment lifelong and increased dosage plan during acute stress, in order to obtain the benefit of optimal outcome from the ongoing treatment schedule. This emphasizes the need for the parents of affected children to be empowered with adequate knowledge regarding such lifesaving therapy. AIMS & OBJECTIVES: This study was aimed to assess their knowledge regarding corticosteroid therapy. Materials and methods. Caretakers of children with CAH were recruited by using purposive sampling technique. Data was collected by using structured interview technique. RESULTS: It was observed that only 10% of study group had adequate knowledge about therapy and the majority of them were from rural areas, lacking in awareness of essential steps of management. CONCLUSION: It was concluded that these caretakers need to be given appropriately planned education regarding corticosteroids, drug actions, and the need for enhanced steroid dosage during stress situations. They should also be given relevant instructional materials to read for improving their knowledge about their child's disorder.
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AIM: To develop an evidence-based expert group opinion on the role of insulin motivation to overcome insulin distress during different stages of insulin therapy and to propose a practitioner's toolkit for insulin motivation in the management of diabetes mellitus (DM). BACKGROUND: Insulin distress, an emotional response of the patient to the suggested use of insulin, acts as a major barrier to insulin therapy in the management of DM. Addressing patient-, physician- and drug-related factors is important to overcome insulin distress. Strengthening of communication between physicians and patients with diabetes and enhancing the patients' coping skills are prerequisites to create a sense of comfort with the use of insulin. Insulin motivation is key to achieving targeted goals in diabetes care. A group of endocrinologists came together at an international meeting held in India to develop tool kits that would aid a practitioner in implementing insulin motivation strategies at different stages of the journey through insulin therapy, including pre-initiation, initiation, titration and intensification. During the meeting, emphasis was placed on the challenges and limitations faced by both physicians and patients with diabetes during each stage of the journey through insulinization. REVIEW RESULTS: After review of evidence and discussions, the expert group provided recommendations on strategies for improved insulin acceptance, empowering behavior change in patients with DM, approaches for motivating patients to initiate and maintain insulin therapy and best practices for insulin motivation at the pre-initiation, initiation, titration and intensification stages of insulin therapy. CONCLUSIONS: In the management of DM, bringing in positive behavioral change by motivating the patient to improve treatment adherence helps overcome insulin distress and achieve treatment goals.
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CONTEXT: Our literature search revealed that the use of porcine sequence corticotropin has not been validated against tetracosactide hexaacetate in a healthy population. AIMS: To study the efficacy of using porcine sequence corticotropin in comparison with tetracosactide hexaacetate in the evaluation of hypothalamo pituitary adrenal (HPA) axis. MATERIALS AND METHODS: Fifteen healthy volunteers were enrolled. Serum cortisol was measured at 0 minute in all subjects and at 30 and 60 minutes after tetracosactide hexaacetate 250 µg intravenously. Four weeks later, serum cortisol level was measured at 0 minute and at 30 and 60 minutes following 24 units of porcine sequence corticotropin given intramuscularly. RESULTS: Mean serum cortisol values with tetracosactide were 30.3 (±7.83) µg/dl and 31.27 (±7.36) µg/dl at 30 and 60 minutes, respectively. The mean cortisol values with porcine sequence corticotropin were 26.33 (±5.47) µg/dl and 31.59 (±6.40) µg/dl at 30 and 60 minutes, respectively. All subjects had a response qualified as normal or adequate at 30 minutes itself. Mean peak serum cortisol response was 32.65 (±7.76) µg/dl in tetracosactide group and 31.59 (±6.4) µg/dl in porcine sequence corticotropin group, and the responses in two groups were comparable (P = 0.686). There were no immediate side effects in both groups, with a lower cost of procedure in the porcine corticotropin group. CONCLUSION: Our study established the efficacy of porcine sequence corticotropin in testing the adequacy of HPA axis in healthy individuals. Our study also revealed that, the intactness of the HPA axis could be confirmed as early as 30 minutes in healthy individuals.
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BACKGROUND: Primary hyperparathyroidism (PHPT) is a common endocrine disease with a variable clinical presentation. PHPT is usually symptomatic at presentation in majority of the patients, especially in developing countries. As the accessibility to investigations, advanced imaging methods and surgical procedures are improving, the clinical profile of the patients with PHPT has undergone a palpable change compared to the earlier description. Hence we decided to look for a change in clinical, imaging and surgical outcomes of PHPT patients from South India. METHODS: We collected the data on clinical presentation, biochemistry, radiological features and operative findings of patients with PHPT treated in our hospital from 2011-2015. Cases of PHPT were identified from the laboratory values using the biochemical criteria, after the exclusion of secondary and tertiary hyperparathyroidism cases. RESULTS: Our study identified 54 patients (19 males and 35 females) with age ranging from 16 to 71 years. A Significant proportion(38.9%) of the patients were asymptomatic. Musculoskeletal symptoms (40.7%), renal manifestations (27.7%) and gastrointestinal system involvement (27.7%) constituted the other common modes of presentation. CNS involvement was seen in 3 patients. A palpable nodule in the neck was detected in 4 patients. Interestingly 4 patients were managed for parathyroid crisis at presentation. Biochemical features included hypercalcaemia (100%) and hypophosphatemia (59%) with a mean intact PTH level of 602.0±721.3 pg/ml. Sensitivity of Ultrasonography and Tc99M Sestamibi was 72% and 70.6% respectively for detecting a parathyroid adenoma. Sensitivity of C11 methionine PET-CT was 71.4% in those patients who were negative for other imaging modalities. Forty three patients (79.6%) underwent minimally invasive parathyroidectomy. CONCLUSION: In South India we have a notable change in the clinical presentation of PHPT from a symptomatic to an asymptomatic state. C11 Methionine PET - CT is an emerging modality for preoperative localisation especially when other imaging modalities are negative and when a minimally invasive parathyroidectomy is desired.
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INTRODUCTION: Endogenous hyperinsulinemic hypoglycemia (EHH) is a condition in which the insulin levels are inappropriately high in the presence of low plasma glucose. MATERIALS AND METHODS: We did a retrospective analysis of case records of those patients admitted and evaluated for EHH from June 2004 to June 2016 in our center, excluding those that were diagnosed with reactive hypoglycemia. We collected data regarding demographics, clinical presentation, laboratory results, localization techniques, and treatment administered. RESULTS: Sixteen patients who were admitted for evaluation based on history suggestive of repeated hypoglycemic episodes were included in the study. All but one pregnant patient was subjected to a supervised fast in the hospital. All patients developed hypoglycemia (defined using Whipple's triad) within the first 24 h. Three patients had autoimmune hypoglycemia which differed significantly from insulinoma-mediated hypoglycemia in certain clinical and laboratory parameters. They were older in age with marked fluctuations in the 24 h glucose profile ranging from frank hypoglycemia to frank hyperglycemia. The insulin levels were markedly elevated in this group of patients along with a significantly elevated insulin C peptide molar ratio (ICMR) when compared with patients with insulinoma-mediated hypoglycemia. CONCLUSIONS: Although insulinoma is the most common cause of EHH, autoimmune hypoglycemia should be considered as a differential diagnosis, particularly in older individuals with plasma glucose values increasing to the hyperglycemic range. Degree of elevation of insulin levels and ICMR may provide additional clues. Overall, the survival and prognosis of patients with EHH are excellent.
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Paralisia Periódica Hipopotassêmica/complicações , Paralisia Periódica Hipopotassêmica/diagnóstico , Doenças da Glândula Tireoide/complicações , Doenças da Glândula Tireoide/diagnóstico , Antagonistas Adrenérgicos beta/uso terapêutico , Adulto , Diagnóstico Diferencial , Feminino , Humanos , Paralisia Periódica Hipopotassêmica/tratamento farmacológico , Masculino , Pessoa de Meia-Idade , Potássio/uso terapêutico , Doenças da Glândula Tireoide/tratamento farmacológico , Testes de Função TireóideaRESUMO
The prevalence of cardiovascular risk factors among patients with type 1 diabetes is underestimated. This study was conducted to assess the cardiovascular risk by comparing arterial stiffness in type 1 diabetes with that of controls. Thirty-one type 1 diabetes patients and 31 age- and gender-matched controls were included. The brachial-ankle pulse wave velocity (ba-PWV) was measured using Periscope, a noninvasive device. The ba-PWV was found to be significantly elevated among the patients with diabetes (1177.09 ± 180.1 cm/s) when compared with the controls (1057.99 ± 95.8 cm/s) (P = .003). The ba-PWV showed positive correlation with age (r = .43, P = .014), heart rate (r = .49, P = .005), blood pressure (r = .65, P < .001), and LDL (r = .46, P = .008) among patients with diabetes. Linear regression analysis revealed that diabetes, age, systolic blood pressure (SBP), and BMI were independently associated with ba-PWV (R (2) = .589). On subdividing the diabetes cohort into quintiles for LDL and SBP, a substantial increase in ba-PWV was seen at LDL > 102 mg/dl (1187.8 cm/s to 1364.9 cm/s, P = .09) and SBP > 130 mmHg (1176.1 cm/s to 1369.4 cm/s, P = .03). Arterial stiffness as assessed by ba-PWV is significantly increased among patients with type 1 diabetes compared to healthy controls, independent of traditional cardiovascular risk factors. Early screening for arterial stiffness using a cheap and effective method among patients with SBP > 130 mmHg and LDL > 102 mg/dl may help identify those with heightened cardiovascular risk.
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Doenças Cardiovasculares/epidemiologia , Diabetes Mellitus Tipo 1/epidemiologia , Rigidez Vascular/fisiologia , Adolescente , Adulto , Índice Tornozelo-Braço , Doenças Cardiovasculares/etiologia , Doenças Cardiovasculares/fisiopatologia , Estudos de Casos e Controles , Estudos de Coortes , Diabetes Mellitus Tipo 1/complicações , Diabetes Mellitus Tipo 1/fisiopatologia , Feminino , Humanos , Incidência , Masculino , Análise de Onda de Pulso , Adulto JovemRESUMO
BACKGROUND: The A1chieve, a multicentric (28 countries), 24-week, non-interventional study evaluated the safety and effectiveness of insulin detemir, biphasic insulin aspart and insulin aspart in people with T2DM (n = 66,726) in routine clinical care across four continents. MATERIALS AND METHODS: Data was collected at baseline, at 12 weeks and at 24 weeks. This short communication presents the results for patients enrolled from Karnataka, India. RESULTS: A total of 2243 patients were enrolled in the study. Four different insulin analogue regimens were used in the study. Patients had started on or were switched to biphasic insulin aspart (n = 1855), insulin detemir (n = 211), insulin aspart (n = 111), basal insulin plus insulin aspart (n = 16) and other insulin combinations (n = 40). At baseline glycaemic control was poor for both insulin naïve (mean HbA1c: 9.2%) and insulin user (mean HbA1c: 9.0%) groups. After 24 weeks of treatment, both the groups showed improvement in HbA1c (insulin naïve: -1.4%, insulin users: -1.7%). SADRs including major hypoglycaemic events or episodes did not occur in any of the study patients. CONCLUSION: Starting or switching to insulin analogues was associated with improvement in glycaemic control with a low rate of hypoglycaemia.
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We report a 2-month-old child with galactosemia and falsely high glucose readings with a glucometer using mutant variant of quinoprotein glucose dehydrogenase (MutQ-GDH) chemistry. Potentially fatal hypoglycemia could have been induced in the child if insulin infusion had been initiated as per glycemic management protocol. Even though, the product information with the glucometer carries warning regarding interference by high galactose levels, the awareness regarding this interaction is generally poor in many practice settings. Although, false readings have been reported with glucose dehydrogenase pyrroloquinoline quinone (GDH-PQQ) glucometers, to our knowledge this is the first case report of a falsely high glucose reading due to high galactose in a proven case of galactosemia with a glucometer using the MutQ-GDH chemistry (a modified GDH-PQQ chemistry). Our experience has prompted us to write this case report and we suggest avoiding these glucometers in neonates and infants when a metabolic disease is suspected.
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A 6 years male child was referred to our Endocrinology clinic with complaints of failure to thrive and he displayed the characteristic features of Russell Silver Syndrome which included short stature, relative macrocephaly, triangular facies and bilateral clinodactyly. He had a birth weight of 2.14 kg and an expected target height of 170 cm. He was subjected to a hormonal analysis which revealed a normal thyroid profile, but low serum markers of growth namely IGF-1=68 ng/ml (52-297 ng/ml) and basal growth hormone (GH) (1.5 µg/l). No defects were detected on MRI of the sella. Therefore a growth hormone stimulation test with Clonidine was performed which confirmed complete GH deficiency (at 0 min=0.16 µg/l, 60 min=0.27 µg/l, 120 min=4.73 µg/l). He was commenced on rhGH therapy at 8 years of age (height=102 cm, SDS=-4.53), due to financial restraints. Following initiation of GH therapy (1.5 IU/day) for 19 months, a height gain of 15 cm was obtained (Height=117 cm, SDS=-3.05). Bone age at 9 yr. was between 7-8 years.
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AIMS AND OBJECTIVES: To estimate serum vitamin B12 levels in type 1 diabetes and to evaluate the influence of duration of diabetes, diabetic control, and age on B 12 levels. IMPORTANCE OF STUDY: Vitamin B12 deficiency is known to be associated with autoimmune disorders. However, currently there is very limited and controversial data regarding the prevalence of B12 deficiency in type 1 diabetes in South Indian population. If our study demonstrates the presence of low serum B12 levels in type1 diabetes in our population, a recommendation for regular screening and supplementation of vitamin B12 could be considered in these patients. MATERIALS AND METHODS: This was a cross- sectional study. Ninety type 1 diabetic patients (44 males and 46 females) were randomly selected based on inclusion/ exclusion criteria from the diabetes registry at Bangalore Diabetes Centre. Serum vitamin B12 level and parameters for diabetic controls were estimated using fully automated methods. All statistical analysis was carried out using SPSS version 16. RESULTS: The study showed that 45.5% of the diabetics had low B12 using the manufacturer's cut - off of 180 pg/mL and 54% had low B12 using the published cut - off of 148 pmol/l (200pg/mL). There was no significant difference in B12 levels between males and females (mean difference = - 14.3: P > 0.05). The study did not demonstrate any significant correlation between vitamin B12 levels and age, duration of diabetes, and diabetes control (the r values being - 0.18, - 0.11, and - 0.08 respectively and the P-value > 0.05). CONCLUSION: Results of our study shows the presence of low serum B12 levels in type 1 diabetics. These findings merits further research on a larger population to investigate into the cause of deficiency and the benefit of B12 supplementation in these patients.
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Although the importance of the pituitary gland for growth was recognized in late 19(th) century, Growth hormone (GH) therapy was made available for severely GH-deficient children and adolescents only in late 1950s. Use of GH for other conditions was limited because of the limited supply of human pituitary-derived hormone. With unlimited availability of recombinant human GH (rhGH), the scenario of GH treatment has been changed enormously. Currently there is ever increasing list of indications of GH treatment in children, adolescents, and adults.
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Berardinelli Seip congenital lipodystrophy (BSCL) is a rare metabolic disorder characterized by severe generalized lipodystrophy, insulin resistance, and dyslipedemia since infancy, and onset of overt diabetes mellitus in adolescence. Here we report a 5-month-old infant with clinical and metabolic manifestations of Berardinelli Seip syndrome including overt diabetes mellitus and stroke, which are very rare at this age.
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BACKGROUND: There are currently approximately 40.9 million patients with diabetes mellitus in India and this number is expected to rise to about 69.9 million by the year 2025. This high burden of diabetes is likely to be associated with an increase in associated complications. MATERIALS AND METHODS: A total of 23 (15 male and 8 female) patients with type 2 diabetes of 10-15 years duration and their age and gender matched controls (n=23) were recruited. All subjects underwent detailed clinical proforma, questionnaire related to autonomic symptoms, anthropometry, peripheral neural examination and tests of autonomic nervous system including both conventional and newer methods (heart rate and blood pressure variability). RESULTS: Conventional tests of cardiac parasympathetic and sympathetic activity were significantly lower in patients with diabetes compared to the controls (P<0.05). The diabetic patients group had significantly lower high frequency and low-frequency HRV when expressed in absolute units (P<0.05) and total power (P<0.01) compared to the controls. CONCLUSION: Data from the current study demonstrated that diabetics had both cardiac sympathetic and cardiac parasympathetic nervous system involvement. The presence of symptoms and involvement of both components of the autonomic nervous system suggest that dysfunction has been present for a while in these diabetics. There is a strong need for earlier and regular evaluation of autonomic nervous system in type 2 diabetics to prevent further complications.