Experience with inhaled nitric oxide therapy in hypoxic respiratory failure of the newborn

BACKGROUND: Respiratory diseases are the commonest cause of morbidity and mortality in newborns. Inhaled nitric oxide (iNO) has been shown to be effective in the management of persistent pulmonory hypertension of newborn (PPHN). OBJECTIVES: To retrospectively analyse data to determine the effectiveness of inhaled nitric oxide (iNO) in the management of newborns with PPHN in terms of survival and changes in oxygenation status. METHODS: Neo-natal data since inception of iNO therapy at the unit (past six years) was reviewed. Pertinent demographic and clinical information was collected from medical records of newborns that received inhaled nitric oxide therapy during their stay. Details of underlying illnesses, other therapeutic modalities, arterial blood gas, ventilatory and nitric oxide parameters were assessed and analysed to ascertain efficacy of iNO. RESULTS: A total of 36 babies (gestational age ranging from 24-41 weeks) received iNO during this period; two were excluded from final analysis. Overall survival rate was 80 percent. There was a statistically significant increase in systemic oxygenation (PaO2) from 41.1 +/- 2.1 mmHg to 128.5 +/- 13.2 mmHg and a decline in oxygenation index (OI) from 49.4 +/- 5.9 to 17.3 +/- 2.5, when assessed after four hours (P < 0.001). Mean duration of iNO therapy was 63 +/- 7.3 hours and the maximum methaemoglobin levels were noted to be 2.1 percent. CONCLUSIONS: Inhaled nitric oxide appears to be an effective rescue therapy for the management of PPHN associated with hypoxic respiratory failure. It is safe and well tolerated with no evidence of clinical or biochemical side effects.     

N-acetyl transferase 2 polymorphism and advanced stages of endometriosis in South Indian women

Aylamine-N-acetyl transferase is a phase II detoxification enzyme encoded by the gene NAT2. Single nucleotide polymorphism (SNP) changes from the wild type NAT2 *4 allele result in allelic variants *5, *6 and *7. Homozygotes for the NAT2 *4 wild type are fast acetylators; heterozygotes with one wild-type allele and a variant NAT2 *5, *6 or *7 allele have reduced enzyme activity and individuals with two variant alleles are slow acetylators. Previous studies have implicated NAT2 as a susceptibility factor in endometriosis. This study investigated the NAT2 allele frequencies and genotype distributions in 252 unrelated women with endometriosis and 264 controls of South Indian origin. No differences were found between the frequencies of fast and slow acetylators in cases (34.9% and 65.1%) and controls (33.3% and 66.7%). Two NAT2 genotypes *7/*7 (1.2%) and *5/*6/*7 (1.6%) were detected in endometriosis cases only. Four new combinations, 6D (481 + 590 mutation), 7C (590 + 857), 7D (590 + 803 + 857) and 7E (481 + 590 + 803 + 857) were detected, which have not been reported earlier. Similar genotype and phenotype results were obtained in 33 affected sister-pairs. The case-control data from this study suggest there is no association between endometriosis and NAT2 in South Indian women; however, two new variant genotypes and seven SNP combinations were also identified in cases only, which suggests that the gene may still have some as yet undetermined role in the disease.     

Pseudohypoparathyroidism presenting with bony deformities resembling rickets

Pseudohypoparathyroidism (PHP), characterized by hypocalcemia, hyperphosphatemia and elevated parathormone level, may rarely be associated with bony deformities resembling rickets. The authors report two siblings with clinical and radiological features suggestive of rickets unresponsive to treatment with vitamin D. Low serum calcium, elevated serum phosphate, normal renal functions, raised tubular maximum of phosphate and high serum parathormone were suggestive of PHP. Treatment with 1-hydroxyvitamin D and calcium carbonate led to decrease in bone pain, increase in height and weight and resolution of radiological features. PHP should be suspected in patients with bony deformities, hypocalcemia, elevated blood phosphate levels and normal renal functions.     

Idiopathic granulomatous hepatitis

A 12-year-old male child reported with history of fever for last seven years. Hepatosplenomegaly, hepatic and bone marrow granulomas were the main features. Idiopathic Granulomatous Hepatitis (IGH), a rare syndrome amenable to immunosuppressive therapy was diagnosed.     

Long-term effects of cerebellar retraction in the microsurgical resection of vestibular schwannomas

OBJECTIVE: To determine the long-term effects, if any, of the greater cerebellar retraction that is required for retrosigmoid vestibular schwannoma versus resection as compared with the minimal, if any, cerebellar retraction required for translabyrinthine versus resection. STUDY DESIGN: Retrospective case control. METHODS: All patients who underwent retrosigmoid versus resection between 1988 to 2000 by one surgeon were identified. These patients were contacted and asked to complete the Dizziness Handicap Inventory (DHI). These patients were then matched to patients who underwent translabyrinthine versus resection according to age at surgery, age at time of study, sex, and size of tumor. Total DHI and subcategory DHI scores were compared using the Student t test. RESULTS: Thirty-three patients underwent the retrosigmoid approach, and 27 were contacted for completion of the survey, with a 81.3% response rate. Forty-six patients who underwent translabyrinthine versus resection were matched to the retrosigmoid group. Thirty-six were contacted and completed the survey for a 75% response rate. Twenty-seven patients that most closely matched the retrosigmoid group comprised the translabyrinthine group used for comparison. Minimal differences were seen between the two groups. Mean total DHI score for the retrosigmoid group was 17.6, which was not significantly different from the mean score of 16.8 seen in the translabyrinthine group (P =.888). When comparing small tumors (<1.5 cm), total DHI scores were not found to be significantly different (P =.859). We observed similar findings in those with intermediate-sized tumors (1.5-3 cm). CONCLUSION: The significantly greater cerebellar retraction that is necessary for retrosigmoid versus resection does not result in greater long-term balance and disability as compared with those patients who have undergone the translabyrinthine approach.     

Teflon-induced granuloma: a source of false positive positron emission tomography and computerized tomography interpretation

Patients diagnosed with malignancy often undergo combined positron emission tomography (PET) and computerized tomography (CT) to investigate possible metastases. This report presents a case in which, in the investigation of suspected pulmonary malignancy, combined PET and CT images suggested a malignant lesion at the level of the vocal fold. Biopsy of the lesion, however, confirmed the clinical diagnosis of a Teflon granuloma. The case highlights the potential for a false positive report during scanning of patients who have had vocal fold injection.