Indian pediatrics最新文献

Objective: To analyze the utility of cord blood thyroid stimulating hormone (CBTSH) for improving the universal newborn screening (UNBS) strategy, and  to generate regional normative data.

Methods: Data of UNBS using CBTSH and cord blood free thyroxine (CBfT4) over two years (01 April 2022 to 31 March 2024) in all inborn deliveries was analyzed using descriptive statistics.

Results: Out of 2218 neonates delivered to 2094 mothers, data was available for 2116 newborns (54.4% males; 68.2% term gestation; 27%, 3.5%, and 0.9% late, early and extreme preemies, respectively; 61% appropriate-for-gestational age). The mean (SD) CBTSH was 7 (5.3) mIU/L (3rd-97th percentiles: 2.6-18.8 mIU/ml); higher in extreme preterms, extremely low birth weight (< 1000 g) and sick babies. Mean (SD) cord blood free thyroxine (CBfT4) was 0.99 (0.2) ng/dL (3rd-97th percentiles: 0.7-1.4 ng/dL), lower in extreme preterms. 58 newborns (recall rate 2.7%) had CBTSH > 20 mIU/L (all had normal CBfT4) and were recalled: 5 did not return, 52/53 were normal on retesting. Only 2/58 newborns had CBTSH > 40 mIU/L: one had confirmed CH. With CBTSH cutoff > 40 mIU/L, recall rate could have been reduced to 0.09%.

Conclusion: We propose simplified screening strategies of "retest and recall", and using three CBTSH categories, i.e., (a) < 20 mIU/L: normal, discharge; (b) 20-40 mIU/L: test CBfT4, if < 0.7 ng/dL, do confirmatory venous TSH & fT4 at 72 h age (before discharge); (c) > 40 mIU/L: confirmatory venous TSH & fT4 at 72 h (before discharge): if venous TSH < 20 mIU/L: normal; TSH 20-40 mIU/L or fT4 < 0.7 ng/dL: recall and retest at 7-10 days age. If confirmatory venous TSH is high or fT4 is low, start replacement. This would improve decision-making and minimize burden of unnecessary recalls while ensuring early identification.

Objective: To study the changes in cerebral hemodynamics and cerebral perfusion pressure (CPP) in children with convulsive status epilepticus (SE) by bedside transcranial doppler (TCD).

Methods: Transcranial doppler of bilateral middle cerebral artery (MCA) was performed in 42 antiepileptic drug naïve convulsive SE patients (1-12 years) within 30 min of seizure termination and in 42 hemodynamically stable patients with non-neurological symptoms without any pre-existing cardiovascular and renal pathologies. The mean flow velocity (Fvm), diastolic flow velocity (Fvd) and peak systolic velocity (PSV) were measured, and CPP was calculated.

Results: Mean (SD) Fvd, PSV, Fvm, and CPP in the right MCA in study group was 57.85 (3.57) cm/s, 139.90 (7.07) cm/s 85.19 (3.30) cm/s and 68.40 (4.91) mm Hg, respectively, and corresponding values in left MCA were 58.04 (3.35) cm/s, 139.90 (6.96) cm/s, 85.30 (3.20) cm/s, and 68.50 (4.93) mmHg. Alterations of Fvd, PSV, and Fvm and CPP were statistically significant in the study group compared to comparator group.

Conclusion: Bedside TCD within 30 min of seizure termination in SE patients can detect alterations in cerebral flow velocities risking cerebral hypoperfusion.

Objective: To compare the phenotypic, biochemical, and genotypic characteristics of hereditary FGF23-mediated hypophosphatemic rickets (FGF23-M-HR) and non-FGF23-mediated hypophosphatemic rickets (non-FGF23-M-HR).

Methods: Clinical, biochemical, and radiological data of genetically proven FGF23-M-HR and non-FGF23-M-HR cases from a single center in western India were compared.

Results: Thirteen probands (6 familial; 11 females) with FGF23-M-HR with median (IQR) age of symptom onset 2.0 (1.25, 26) years and age at diagnosis 10 (3, 30) years, were included. All, but one, presented with rickets and short stature. There were 12 (7 novel) unique PHEX mutations and one homozygous novel DMP1 mutation. FGF23-M-HR had significantly higher parathormone levels (81.9 vs. 25.1 pg/mL), lower 1,25 (OH)₂ D (54.9 vs. 103 ng/mL), and lower urinary calcium/creatinine ratio (0.006 vs. 0.38). Parathormone > 65.3 pg/mL has 100% specificity for diagnosing FGF23-M-HR.

Conclusion: Parathormone, urinary calcium/creatinine ratio, and 1,25 (OH)₂ D levels can differentiate FGF23-M-HR from non-FGF23-M-HR.

Objectives: To study the clinical profile and outcomes of children with unilateral multicystic dysplastic kidney (MCDK).

Methods: We assessed the clinical features and extrarenal manifestations in children with unilateral MCDK. These children were followed up to ascertain involution, compensatory hypertrophy and progression of chronic kidney disease (CKD) stage.

Results: We enrolled 106 children with unilateral MCDK which was detected antenatally in 98 (92.4%), while evaluating for urinary tract infection in three (2.8%), and incidentally in five (4.7%) children. Abnormalities in the contralateral kidney and extrarenal manifestations at initial presentation were detected in 30 (28.3%) and 15 (14.2%), respectively. At a median (IQR) follow-up of 60 (32, 87) months, 34 (32.1%) children demonstrated complete involution of the MCDK, while 72 (67.9%) showed compensatory hypertrophy in the contralateral kidney. The median age at involution of MCDK was 48.5 (33, 86.5) months. Twenty-two (20.7%) children had non-regression of MCDK, and two (1.9%) underwent nephrectomy. Eight (7.5%) children developed hypertension and two children were detected to have proteinuria. One child, each, progressed to CKD stage 2 and stage 3a; and another child (0.9%) progressed to end stage kidney disease. None of the patients developed malignant transformation.

Conclusions: Majority of cases (92.4%) of MCDK had been detected antenatally. The rate of involution was 32.1% at a median follow-up of 60 months. Although, 28.3% of cases of MCDK had abnormalities in the contralateral kidney, progression of CKD to a higher stage occurred only in three (2.8%) cases.

Objective: To compare the clinical and biochemical parameters and outcomes in children with acute encephalitis syndrome (AES) with and without hyponatremia.

Methods: A prospective observational study conducted at a tertiary care teaching hospital included children aged 6 months to 12 years with AES defined as acute fever (< 7 days) and neurological symptoms such as new-onset seizures or altered mental status lasting more than 12 h. AES was categorized as neurological or systemic AES. Serum electrolyte samples were collected upon admission and daily for three days to assess the occurrence of hyponatremia (serum sodium < 135 mmol/L). Outcomes were assessed one-month after discharge using the Pediatric Modified Rankin Scale (mRS).

Results: Out of 200 children with AES, 49 (24.5%) had hyponatremia. Hyponatremia was significantly associated with hepatomegaly (P = 0.002), elevated blood urea (P = 0.033), elevated serum creatinine (P = 0.038), decreased serum albumin (P = 0.013) and decreased serum calcium (P = 0.002). Children with hyponatremia experienced significantly greater mortality (P = 0.020) and a longer hospital stay (P = 0.047). Multivariate analysis revealed significant associations between hyponatremia and hepatomegaly (OR 2.22) and mortality (OR 3.17). Hyponatremia and poor outcomes were more common in children with neurological AES compared to systemic AES syndrome.

Conclusion: Hyponatremia was found in one-fourth of cases of AES and had a significant association with mortality and longer hospital stay.