Metabolic Bone Disease in Children With Transfusion-Dependent Thalassemia

Objective: This study aimed to detect metabolic bone disease and endocrinopathies in a cohort of patients with transfusion-dependent thalassemia (TDT). Methods: This prospective study was conducted between March 2020 - August 2021. Children with TDT older than 5 years, receiving regular blood transfusion, underwent comprehensive endocrine and metabolic bone disease evaluation, which included screening for short stature, delayed puberty, diabetes mellitus, hypothyroidism, adrenal insufficiency and hypoparathyroidism. Children older than 10 years also underwent. X-ray of thoracolumbar spine, and dual energy X-ray absorptiometry (DXA) scanning. Results: Out of 37 patients (19 males), with mean (SD) age 15 (6) years, hypogonadism was the commonest endocrine deficiency seen in 15 (62%), followed by short stature, abnormal glucose metabolism, subclinical adrenal insufficiency, hypothyroidism, and hypoparathyroidism. Vitamin D insufficiency/deficiency was seen in 12 (60%) and hypocalcemia in 2 patients. Low bone mass was seen in 8, and osteoporosis, as evidenced by vertebral fractures, in 4 patients. Of the four patients with vertebral fracture, three were aged ?18 years, one was symptomatic, two each had grade 1 and grade 2 fractures, one had multiple vertebral fractures, and all four had hypogonadism and multiple endocrine deficiencies. Conclusion: Vertebral fractures occur even in the second decade among patients with TDT, and are often associated with endocrinopathies, most commonly hypogonadism. Early screening and prevention of vertebral fractures is necessary.

A study to evaluate the prognostic significance of thrombocytopenia among critically ill children

Background: Pediatric critical care differs from Adult critical care not only in age but also in the outcomes. There are no studies regarding thrombocytopenia in the pediatric population. Therefore, in the current study, our objective was to study the prevalence and, the severity of thrombocytopenia, clinical features, and prognostic significance of low platelet count as an independent predictor of mortality and prolonged hospital and ICU stay.Methods: This was a prospective observational study conducted at tertiary care paediatric intensive care unit in India. Children between 1 month to 18 years admitted to the Pediatrics intensive care unit with thrombocytopenia due to any cause at admission were involved in the study. Detailed history was documented. Haemoglobin levels, total leucocyte counts, platelet counts, and platelet indices were recorded on the first and fourth day of admission. Outcomes were analysed in term of survivors and non-survivors and duration of ICU and hospital stay.Results: The study group consisted of 150 children with mean age of 8.458(' 5.604) years. Majority of children in the study group had severe thrombocytopenia 77 (51.3%). Moderate and mild thrombocytopenia was seen in 35(23.3%) and 38(25.4%) children respectively. Infection (50.66%) was the most common cause of thrombocytopenia, followed by sepsis (10.66%). Sepsis (27.5%) was observed to be the most common cause of mortality. Rise in platelet count on the fourth day among survivors, and no survivors were observed in 79.1% and 15.9% respectively.' Failure of the rise in platelet count on the fourth day of admission was significantly associated with mortality (p value=0.001). The severity of thrombocytopenia does not correlate with duration of hospital and ICU stay.Conclusions: Platelet counts and indices at the time of admission to a critical care unit have limited use as a prognostic marker for predicting mortality in children.

Pulmonary function tests in ? thalassemia major and its correlation with serum ferritin levels

Background: Extensive studies are conducted on heart, liver and endocrine abnormalities in thalassemia owing to their direct effect on survival, however, lung dysfunction has never been focused upon and is one of the least understood complications in ? thalassemia. There's a vacuum for data on pulmonary function tests in ? thalassemia major in literature from India. Authors aimed to study pulmonary function and type of abnormality in cases with ? thalassemia major above the age of 8yrs and to correlate the result with age and serum ferritin levels.Methods: Demographic data, hemoglobin value, serum ferritin levels, chelation details and transfusion requirement were analyzed. Spirometry was performed using COSMED pulmonary function test (PFT).Results: Among the 34 subjects studied, 21 were boys, and 13 were girls. Mean serum ferritin levels of the group was 3610.82'2679.51ng/mL and did not show a significant correlation with age, years of transfusion, and years of chelation. Forced vital capacity (FVC), forced expiratory volume in 1st second (FEV1) % values were lower in boys when compared to girls. PFT showed a restrictive pattern in the study group (FEV1/FVC=>0.7) with significant involvement in 73.5% of cases (FEV1<80%). A statistically significant negative correlation was observed between age and FEV1% (r=-0.577, p=<0.01) highlighting the importance of duration of iron overload. However, there was no significant linear correlation between restrictive lung disease and serum ferritin level (r=-0.06, p=0.75).Conclusions: Restrictive pattern was the most common abnormality, and it did not correlate with serum ferritin. Pulmonary function monitoring would help in identifying children with significant morbidity and help in initiating an early intervention to improve the quality of life.

Pediatric Melioidosis in Southern India.

Melioidosis in children is increasingly detected from the coastal region of Southern India during monsoon. We present 11 cases of melioidosis, ranging from localized to disseminated, treated successfully, barring one death. It calls for awareness and upgrading laboratory facilities for better diagnosis and management of pediatric melioidosis.

Case report on an infant presenting with hypoglycemia, and milky serum

A 4-month-old male baby who presented in a moribund condition with seizures was found to have hepatomegaly, hypoglycemia and milky serum. Serum triglycerides were markedly elevated (3168 mg/dL) with cholesterol being 257 mg/dL and high density lipoprotein levels were low (19 mg/dL). The possibility of glycogen storage disease type I was considered in the diagnosis. Infants with glycogen storage disease type I may present like sepsis. The association of hepatomegaly, hypoglycemia and abnormal lipid profile stated above should alert the physician to consider glycogen storage disease type I in the diagnosis.

Oxidative stress in sepsis in children.

BACKGROUND & OBJECTIVE: Information on oxidative damage during sepsis in children is not available, we undertook this study to assess the levels of certain antioxidants in blood of children with sepsis. METHODS: Study group had 38 children with sepsis (<5 yr) and 39 age-and sex-matched controls admitted to a tertiary care hospital. Red cell glutathione (GSH), superoxide dismutase (SOD) and thiobarbituric acid reactive substance (TBARS) and plasma vitamin C were estimated by standard techniques. RESULTS: There was no significant change in erythrocyte GSH, SOD and TBARS levels in sepsis when compared to controls. This may be due to the adaptive response of the body to combat the oxidative stress. However, plasma vitamin C levels were significantly reduced in patients aged one year one month to five years which may be due to active phagocytosis and due to its role as a free radical scavenger. INTERPRETATION & CONCLUSION: Our findings show that children affected by sepsis probably adapt to the free radical toxicity induced by this condition. Further studies need to be done on a larger sample to confirm the findings.

Vaginal endodermal sinus tumor.

Malignant germ cell tumors are rare tumors of childhood accounting less than 3% of pediatric malignancies, and endodermal sinus tumor (EST) is the most common histological subtype. The vagina is an extremely rare site for germ cell tumors (GCT). A one-year female was admitted with history of bleeding per vagina. She had pallor and a mass was palpable anteriorly on rectal examination. Magnetic Resonance Imaging (MRI) showed a tumor mass at the junction of cervix and vagina and biopsy was suggestive of a vaginal EST. The serum alpha fetoprotein (AFP) was elevated. She underwent vaginohysterectomy. The tumor was excised in toto and patient received four courses of cisplatin, etoposide and bleomycin. At one year of follow up, patient was symptom free and serum AFP remained at normal level. EST of the vagina is a rare, highly malignant GCT that exclusively involves children less than 3 years of age. It is both locally aggressive and capable of metastasis. Even though more conservative surgery is advised to maintain sexual and reproductive function, at times, radical surgery is mandatory depending on the infiltration of the tumor to the surrounding structures. Simple tumor excision is not sufficient, as residual cells induce recurrence and make chemotherapy ineffective. The serum AFP level is a useful marker for diagnosis and monitoring the recurrence of vaginal EST in infants.