RESUMEN
OBJECTIVE: To determine the prevalence of short stature, delayed puberty, hypothyroidism, and diabetes mellitus in multiply transfused patients of beta thalassemia major and their correlation with serum ferritin. METHODS: A descriptive observational study was conducted in a tertiary care center in Indore, Madhya Pradesh from 2014 to 2016. All children with thalassemia major of the age group 8 to 18 y attending outpatient department or admitted in ward were included in the study. Detailed clinical history, demographic data, compliance to transfusion and chelation therapy, and growth parameters were recorded. Blood samples to look for endocrinopathies and serum ferritin were assessed. Tanner staging was done to assess for delayed puberty. RESULTS: Mean age of study participants (n = 50) was 15.98 ± 3.4 y. Short stature (n = 44; 88%), delayed puberty (n = 33; 71.7%), hypothyroidism (n = 6; 16%), and diabetes mellitus (n = 5; 10%) were the endocrinal abnormalities found. Mean serum ferritin level was 3122 ± 2117 ng/mL. Serum ferritin had significant positive correlation with serum TSH (thyroid stimulating hormone), fasting blood sugars, postprandial blood sugar, and delayed puberty. CONCLUSION: Evaluation of endocrinopatines must be carried out in thalassemia major patients regularly by pediatricians to detect and treat endocrinal complications. Importance of chelation therapy must be emphasized frequently to parents and patients.
Asunto(s)
Diabetes Mellitus , Hipotiroidismo , Pubertad Tardía , Talasemia beta , Adolescente , Glucemia , Niño , Ferritinas , Humanos , Hipotiroidismo/epidemiología , Hipotiroidismo/etiología , India/epidemiología , Pubertad Tardía/complicaciones , Tirotropina , Talasemia beta/complicaciones , Talasemia beta/epidemiología , Talasemia beta/terapiaRESUMEN
Acute intermittent porphyria (AIP) and ichthyosis vulgaris both are autosomal dominant disorders with incomplete penetrance caused by the deficiency of porphobilinogen deaminase enzyme and filaggrin protein, respectively. We report a rare case of a 9-year-old boy having two genetic diseases with an unclear association. An acute attack of AIP is characterized by gastrointestinal symptoms and neuropsychiatric manifestations. Although rare in the first decade of life, the presence of reddish urine with a typical presentation such as abdominal pain, hypertension, seizure, and paresthesias lead us to the diagnosis of AIP. The precipitating factor in the present case was prolonged fasting in Ramadan.
RESUMEN
CONTEXT: The ultimate goal of a blood transfusion service is the provision of safe and adequate supply free from transfusion-transmitted infections (TTIs). TTIs not only threaten the recipient's safety, but they also increase disease burden. Seroprevalence of TTIs in healthy blood donors indirectly reflects the prevalence of these infections in the general healthy population. AIM AND OBJECTIVES: To study the seroprevalence of human immunodeficiency virus (HIV), hepatitis B virus (HBV), and hepatitis C virus (HCV) in healthy donors at a tertiary care hospital-based blood bank. To know the yearly and age-group prevalence of these TTIs as compared with other studies across India. SETTINGS AND DESIGN: This is 5 years observational cross-section study conducted in a tertiary hospital-based teaching institute of Central India (Malwa region). MATERIALS AND METHODS: The results of serological testing of TTIs and donor variables were analyzed during 2011-2015. STATISTICAL ANALYSIS USED: Chi-square test and Chi-square for trend analysis on TTIs prevalence. RESULTS: A total of 58,998 donors were screened for TTIs with dominance of male donation (99.7%). The overall cumulative seroprevalence was 1.14% in our study. The seroprevalence of HIV, HBV, and HCV was 0.09%, 0.98%, and 0.07%, respectively. We found a statistically significant increasing trend for HCV seropositivity during the study. CONCLUSION: Our study reflects an increasing trend of HCV seroprevalence over time. Thus, efforts are needed to increase the awareness and to educate the population in reducing risk factors for HCV infection.