Acrodysostosis: A case report.

Acrodysostosis is a rare syndrome characterised by peripheral dysostosis (gross shortening of hands and feet), mental retardation, hypoplasia of nose and hypoplasia of maxilla. An 11 year old female child presented to Civil Hospital Ahmedabad with complaints of short stubby fingers. On detailed general examination, patient had dysmorphic facial features, depressed nasal bridge, upturned nose, gingival hyperplasia and dental malocclusion with skeletal survey suggestive of hypoplastic nasal bone, shortening of metacarpal, metatarsal bone & phalangeal bones and early fusion of epiphysis of distal end of radius and ulna ; all pointing towards the diagnosis of acrodysostosis. Any patient presenting with short stature, a short stubby fingers, and acrodysostosis should be suspected. No specific therapy is available

A study of thyroid function in children with Beta thalassemia major.

One of the most common endocrine disorder in beta-thalassemia major is Hypothyroidism. The aim of this study was to evaluate thyroid function status in β-thalassemia major patients above the age of 7 years. Materials & Methods: This cross sectional study was carried out on beta thalassemia major patients registered at Thalassemia Centre of civil hospital, Ahmedabad. A questionnaire was filled out to evaluate the demographic information, information about transfusions and chelation therapy. Growth parameters were evaluated. We assessed serum fT4, fT3 and TSH levels in all patients above 7 years with consent and those who were found to have hypothyroidism were subjected to further management. Results: 97 patients (7-14 years age) (46 males and 51 females) were enrolled in this study. Hypothyroidism was found in 18 patients (15.3%); 5 patients with primary overt Hypothyroidism, and 13 patients with subclinical primary Hypothyroidism were detected. Out of 18patients, 8 patients were male and 10 patients were female.11 patients were above 11 year of age and 6 patients between 9-11 year of age and 1 patient below 9 year. Short stature was found in 62(63.9%) patients. Correlation of Hypothyroidism with serum ferritin level and short stature was significant. Regular transfusion and chelation therapy were associated with ferritin level. Conclusion: High prevalence of Hypothyroidism among thalassemia patients signifies the importance of regular screening for evaluation of endocrine function in these patients, especially after 7 year of age and when ferritin levels are high

A study of physical growth parameters in patients of Thalassemia major.

Introduction: Thalassemia is the most common genetic disorder all over the world as per WHO and so pose a major public health burden in this millennium affecting the growth and the general well being of a large number of children. Aims & Objectives: To analyze physical growth in patients of thalassemia major and to determine association between pre blood transfusion haemoglobin levels and serum ferritin with the growth parameters. Materials and Methods: Cross sectional study including 72 children with B-thalassemia major under the age of 12 years coming to civil hospital for regular blood transfusion. Height and weight of the child were measured using standard techniques every time the child came for blood transfusion along with pre transfusion haemoglobin. Serum ferritin was repeated every 3months.The effect of serum ferritin and pre transfusion haemoglobin on physical growth was studied. Results: Out of total 72 patients, there was a slight preponderance of males (54.1%) compared with females (46.9%).Of total 31 short statured, 15(48.3%) were females and 16(41.7%) were males. 20 out of total 31(64.5%) short statured patients had serum ferritin >2000ng/ml. The patients with a mean transfusion haemoglobin <9g/dl were 40 (55.5%), out of which 20 patients have short stature (64.5% of the total short stature). Conclusion: Regular blood transfusions can maintain pre transfusion haemoglobin levels, but if serum ferritin levels are higher than the desired levels, patients’ physical growth can be affected. Thus, along with maintaining haemoglobin levels, it is important to have effective iron chelation therapy to minimize retardation of growth in patients with transfusion-dependent thalassemia. Thalassemia patients requiring regular blood transfusions need better strategies for removing excess iron

Study of association between Vitamin D levels and HbA1C levels in children with diabetes mellitus type 1.

Aims and Objectives: To evaluate the association between diabetes mellitus type 1(T1DM) and vitamin D deficiency, to compare vitamin D deficiency and glycemic control in paediatric patients with diabetes. Materials and Methods: It’s a cross-sectional study done at civil hospital, Ahmedabad over a period of 10 months from October 2016 to July 2017. A total of 45 patients having DM type 1 in age groups between 1 to 12 years of age were included in the study. Vitamin D and HbA1C levels were done in all the patients. Patients with malnutrition, liver disease and end stage renal disease were excluded from the study. Results: The incidence of vitamin D deficiency in 75.5% among patients with T1DM. 59% of the vitamin D deficient group showed poor control with HbA1C levels >9%

5. Study of etiology and outcome in newborns presented with respiratory distress.

Background: Almost 15% of total term babies and 29% of preterm babies present with respiratory distress. Respiratory distress contributes to a major portion of mortality among them. This study was conducted with the aim of analysing the etiology and outcome of respiratory distress in newborns at a tertiary care centre so as to focus on interventions to decrease the burden of the disease and also decrease the neonatal mortality. Materials & Methodology: In this prospective study 106 newborns, delivered at Civil Hospital Ahmedabad over a period of two months (December’19 and January’20) having respiratory distress were included in the study . Cases were investigated for the cause of respiratory distress and followed up for the outcome. Results: Among 106 newborns studied, 38(35%) neonates had Transient Tachypnea of newborn, 28(25%) were diagnosed to have respiratory distress syndrome, 12(11%) neonates had Meconium Aspiration Syndrome, 12(11%) neonates had birth asphyxia, 14(13.2%) neonates had sepsis, rest 6(5.5%) neonates had congenital anomalies related to respiratory tract. Meconium Aspiration Syndrome was found to be more common in term and post term neonates. 70% of newborns with meconium aspiration syndrome were complicated by Persistent pulmonary hypertension of newborn. Case fatality rate was maximum in Respiratory distress syndrome 10 ( 35%) followed by congenital anomalies 2 (33%) , meconium aspiration syndrome 3 (25%) , Birth Asphyxia 2 (16.7%) and sepsis 2 (14.7%). Conclusion: Transient Tachypnea of newborn accounts for 35% of newborns presented with respiratory distress and has good outcome without any mortality in our study. Whereas Respiratory distress syndrome is 2nd most common cause which accounts for significant amount of mortality (35%) which is, to some extent preventable

A Study of Clinical Spectrum of Dengue Fever in A Tertiary Care Centre.

Introduction: Dengue viruses, of the family Flaviviridae, are the most common cause of arboviral, disease in the world. We report a clinico-epidemiological study of the dengue fever from paediatric department of civil hospital Ahmedabad. This study was designed to document the presenting features, laboratory results and outcome of dengue infection in children. Methodology: A prospective study was carried from October 2014-october 2015 and total of 126 patients were studied from age group between 1 month to 12 years. A detailed history, careful clinical examination and laboratory investigations were done in all the patients. Results and Conclusions: We documented Leucopenia as an early marker than thrombocytopenia and were seen in more numbers (47%) in our study which was not found in the previous studies. Most common symptom was fever with body ache (73%). Majority of patients had platelet count between 50000-1 lakh. 55% had tested positive for dengue IgM and 44.4% had tested positive for dengue NS1. Wide variety of complications like hepatitis (20.6%), myocarditis (14.2%), dengue shock (11.1%), encephalitis (4.7%), Dengue haemorrhagic fever (4.7%), ARDS (2.3%) were seen, which might indicate a change in serotype and epidemiology of the Dengue. Interestingly Bradycardia was seen in increased frequency subsequent to myocarditis with simultaneously raised CPK-MB levels. There were increased cases of coinfections like malaria, enteric, hepatitis, UTI, not seen previously .Out of 126 patients 6 patients expired

Swine flu outbreak 2015-Paediatric Experience in a Tertiary Care Centre.

Background & Aim: To study and analyse the clinical profile and outcome of children admitted with Influenza A positive cases at our Tertiary Care Centre in 2015. Materials & Methods: Prospective study conducted in a tertiary care centre (Civil Hospital) B. J. Medical College, Ahmedabad from Jan 2015 to March 2015. 340 Children presenting with clinical features compatible with category C were admitted and 199 patients having laboratory confirmed influenza A (H1N1) were included in our study. Details regarding clinical features, examination findings, investigations, complications and treatment were recorded and analysed in a systemic manner. Results: Study showed that highest incidence of influenza A was seen in 1-3 years age group (41.7%) Male-female ratio was 1.18:1 indicating similar affection of both sexes. Maximum patients presented within first 3 days of illness (53.2%) with fever (82.9%) followed by dry cough (74.6%) and sore throat (52.7%) as presenting symptoms. Leucopenia (79.4%) was the most common laboratory finding and lobar pneumonia (81.1%) was the most common radiological finding followed by bronchopneumonia (18.9%). Conjunctivitis (20.1%) and otitis media (6.03%) were the common complications. Mortality rate in our set up was 6.5% (13 out of 199); with maximum from 1-3 year age group (46.1%), most common cause being ARDS (46.1%). Conclusion: The outbreak of influenza A (H1N1) 2015 predominantly affected young population with significant morbidity and mortality. With the efforts of healthcare authorities worldwide, we have still not lost the race against fighting this virus