Non-analgesic benefits of combined thoracic epidural analgesia with general anesthesia in on-pump pediatric cardiac surgery: A prospective observational study.

Background: The use of thoracic epidural analgesia in infants and children could attenuate the stress response and thereby improve the outcomes associated with cardiac surgery. Methods: This study is a prospective observational study conducted on 118 patients admitted for cardiac surgery. All patients received thoracic epidural analgesia. Laboratory investigations including inflammatory markers, markers for different organ functions, and intensive care unit parameters were collected at different time points (preoperative, immediate postoperative, on day 1, and day 2). Results: Inflammatory markers such as IL6, IL8, and metabolic response as measured by serum cortisol and blood sugar were significantly high in the immediate postoperative period, which later stabilized in the next 48 h. There was also a sharp increase in the anti-inflammatory marker IL-10 in an immediate postoperative period, which settled later on but continued to be higher than baseline in the next 48 h. All these markers showed lower values when compared to published literature. The baseline renal oxygen saturation using near infrared spectroscopy (NIRS) value in our study was 59.3 + 19, which increased to 76.4 + 12.7 on day 2. Serum neutrophil gelatinase associated lipocalin (NGAL) remained well below normal levels in the perioperative period. PF (pO2/FiO2) ratio and pO2 consistently improved postoperatively with the maximum on day 2. The median mechanical ventilation (MV) duration was 18 h, and the mean length of stay that included intensive care unit stay was 12 days. No epidural-related adverse events were noted. Conclusions: Apart from good analgesia, patients receiving thoracic epidural analgesia displayed a reduction in perioperative stress, superior postoperative glycemic control, reduction in inflammatory markers, postoperative acute kidney injury, and pulmonary complications.

Neu-Laxova's Syndrome: A Case Report of a Fetus with Novel Mutation in PHGDH Gene and a Literature Review.

Neu-Laxova's syndrome (NLS) is a rare group of congenital malformations comprising intrauterine growth retardation (IUGR), central nervous system malformations, microcephaly, facial anomalies, ichthyosis, generalized edema, limb abnormalities, polyhydramnios, and perinatal death. We hereby report a fetus at 25 weeks' gestation with IUGR, facial and limb anomalies, and smooth brain detected on antenatal ultrasound and magnetic resonance imaging of fetus and confirmed by autopsy. Next-generation sequencing analysis identified a novel homozygous missense mutation in PHGDH gene. Only 35 cases of NLS with genetic etiology have been reported. This is the first case report of mutation in PHGDH from India.

Spectrum of fetal limb anomalies.

PURPOSE: Antenatal detection of limb anomalies is not uncommon, and pregnancies are usually terminated in view of the expected physical handicap. The aim of this retrospective observational study is to delineate the spectrum of fetal limb anomalies and provide evidence in support of complete postnatal evaluation in establishing recurrence risk. METHODS: We present 54 cases of limb malformations detected antenatally and discuss the spectrum of abnormalities, the utility of fetal autopsy, and genetic testing to establish recurrence risk in subsequent pregnancies. RESULTS: 16/54 cases were isolated radial ray anomalies. There were five cases of amniotic band syndrome, five limb body wall complex cases, three VACTERL (vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities) associations, one case of sirenomelia, two cases of limb pelvis hypoplasia, and one case of OEIS (Omphalocele Exstrophy Imperforate anus and spinal defects). Four fetuses with non-isolated radial ray anomaly had trisomy 18. One case with bilateral radial ray defect had a mutation in the FANC-E gene confirming fanconi anemia. Twelve cases were unclassified. CONCLUSION: Autopsy is the most important investigation in fetuses with limb anomalies. We suggest chromosomal microarray (CMA) as a first-tier test after autopsy. However, in cases of bilaterally symmetrical limb anomalies, in case of previous similarly affected child, or history of consanguinity, whole exome sequencing (WES) can be offered as the primary investigation, followed by CMA if WES is normal.

Grade 4 very severe hypertriglyceridaemia at diagnosis in a child with acute lymphoblastic leukaemia.

Dyslipidaemia is seen in nearly all cases of acute lymphoblastic leukaemia (ALL) at diagnosis, with mild hypertriglyceridaemia (HTG) in 61% and reduced high-density lipoprotein in 98% cases. HTG irrespective of severity is due to metabolic derangements associated with tumour cells turnover in haematological malignancies and is generally self-limiting. Very severe HTG with overt lipaemic serum is extremely rare at presentation in ALL. HTG is complicated by thrombosis, osteonecrosis and pancreatitis during induction chemotherapy for ALL with steroids and L-asparginase. A careful monitoring is required during induction chemotherapy in ALL when severe HTG is present at diagnosis. We present a female toddler with ALL, who presented with very severe HTG and grossly lipaemic serum. Her very severe HTG decreased to mildly raised HTG at the end of first week of induction chemotherapy. There was no further complication noticed during induction therapy.

Isolated congenital absence of bilateral femur: A rare case report with antenatal diagnosis and postnatal follow-up.

We report a rare case of isolated congenital absence of the bilateral femur diagnosed antenatally in an 18-19 weeks fetus on a level II scan. The bilateral femur bones were not visualized with normal bilateral tibia and fibula. The fetus was followed with a routine growth scan at 32-33 weeks along with a fetal MRI, which showed similar findings. The antenatal findings were confirmed clinically as well as with a postnatal follow-up X-Ray (infantogram) of the baby. Trio whole-exome sequencing was performed for the child as well as both the parents, which did not reveal any clinically significant variant that could explain the patient's phenotype.

Vitamin D, body mass composition and metabolic risk factors in healthy young Indians.

BACKGROUND: Studies have linked vitamin D to risk factors for cardiovascular disease. Obesity is a potential confounder in these studies. This study examined the relationship of 25 (OH) cholecalciferol (25[OH] D3) with insulin resistance, blood glucose, and lipid profile in lean male adults. METHOD: We enrolled two hundred and thirty four military recruits before beginning of military training. Demographic and anthropometric data were collected from them. The participants underwent body mass composition analysis by dual energy X ray absorptiometry. Fasting samples were collected for measurement of blood glucose, lipid profile, 25(OH) D3, serum parathormone (PTH) and insulin. RESULTS: Vitamin D deficiency and insufficiency was found in 47.7% (107/224) and 31.6% (71/224) of participants, respectively. Using Pearson's correlation coefficient 25(OH) cholecalciferol and fasting blood glucose (FBG) were inversely correlated (p = 0.023). However, similar relation was not found between 25(OH) D3 and total cholesterol, triglycerides, high-density lipoprotein-cholesterol, low-density lipoprotein-cholesterol, homeostatic model assessment of insulin resistance and levels of PTH. On body composition analysis, there was no correlation of 25(OH) cholecalciferol with body mass index or fat mass index. CONCLUSION: This study showed that in lean young male population, 25(OH) cholecalciferol and FBG are inversely correlated but no association of 25(OH) D3 with other cardiometabolic risk factors could be demonstrated.

Hemiatrophy of brain: antenatal ultrasonography and MRI/postnatal MRI diagnosis with the introduction of "shifted falx sign".

Dyke-Davidoff-Masson syndrome (DDMS) is an uncommon congenital/pediatric disorder diagnosed only with the help of imaging. Clinical features associated with it are hemiparesis, seizures, facial asymmetry, and mental retardation. We here present a case of DDMS diagnosed antenatally at 29 weeks gestational age during routine antenatal ultrasound examination. The patient was further evaluated and followed using both ultrasound and magnetic resonance imaging during antenatal and postnatal periods. The infant had unilateral hemiatrophy with the absence of anterior and middle cerebral arteries. We hereby also want to coin the term "shifted falx sign" as a diagnostic indicator for DDMS for the first time. To our knowledge, this is the earliest antenatally sonologically diagnosed case of the said pathology.

Transient evoked otoacoustic emissions.

OBJECTIVE: The purpose of this study was to collect parametric measures of TEOAEs in normal hearing children of various age-groups and to establish a normative baseline for Transient Evoked Otoacoustic Emissions (TEOAEs). METHODS: Sixty subjects were investigated in three age-groups: neonates, 0-1 month; infants, 1 month-1 year; and children, 1-6 years. Each group comprised of 20 subjects. All the subjects underwent medical examination by a pediatrician and an ENT surgeon. Screening for hearing was done by immittance testing, behavior observation and conditioned play audiometry. The TEOAEs were analyzed for the parameters of amplitude, cross-correlation (wave reproducibility) and signal-to-noise ratio (SNR). RESULTS: There was no difference between the mean amplitudes of the right and left ears in the groups. The females in the neonates group had higher emission amplitudes than the males. The mean amplitude of the subjects in the neonates group was significantly higher than the subjects in the infants or children groups. The cross correlation (wave reproducibility) was constant across the age. The mean SNR for all the subjects were well above 3 dB at frequencies 1.5 k, 2 k, 3 k and 4 kHz. The neonates group showed the lowest SNR ranging between 3.47 to 9.62 dB. The infants group showed the highest SNR ranging between 6.13 to 13.11 dB. CONCLUSION: The TEOAEs response measures of SNR and cross correlation, at frequency bands 1.5, 2, 3 and 4 kHz, may provide more reliable outcomes than TEOAEs amplitude. Subjects in the age range of 0-1 month show lower SNRs than those in higher age ranges. The values can be used as normative data for screening and diagnostic purposes in the pediatric population.