Likelihood of meeting defined VATER/VACTERL phenotype in infants with esophageal atresia with or without tracheoesophageal fistula

Esophageal atresia (EA) with or without tracheoesophageal fistula (TEF) is a foregut defect that is a major component of the VATER/VACTERL association. The specific diagnostic criteria for the VATER/VACTERL association phenotype have changed over time. The current definition is presence of at least three of the following: V ertebral defects, A nal atresia, C ardiac defects, TE fistula, or R enal and L imb anomalies in the absence of a specific genetic diagnosis. Using the Texas Birth Defect Registry, 1,175 cases of EA+/?TEF (174 EA; 1,001 EA + TEF) were evaluated against strict definitions of VATER/VACTERL. Nine (5.2%) cases of EA alone and 164 (16.3%) cases of EA + TEF met criteria for a diagnosis of VATER; and 20 (11.5%) and 223 (22.2%), respectively, met criteria for VACTERL. Trisomy 21, Trisomy 18, 22q11 deletion, and CHARGE were the most common syndromic diagnoses. About 88.5% (154) cases of EA and 77.8% (778) cases of EA + TEF were likely not to meet the criteria for VACTERL. EA+/?TEF is more likely to be an isolated defect or part of a multiple malformation syndrome in a pattern other than VACTERL, than be part of the defined association. This study reinforces the need to consider broader evaluation for alternate diagnoses in the presence of these defects.     

Angioembolisation in Maxillofacial Trauma: An Initial Experience in a Tertiary Care Center

Purpose

To analyze the safety, efficacy and outcome of angio-embolization in the management of refractory oro-nasal bleeding in patients of severe maxillofacial trauma.

Materials and Methods

It was a retrospective analysis of 21 patients who were managed by angio-embolisation to control refractory oro-nasal bleeding in severe maxillofacial trauma from December 2010 to December 2013. The patient population included 19 males and 2 females and the age ranged from 16 to 55 years (mean age of 29.6 years). Gelfoam pledgets and coils were used as embolising agents in branches of external carotid arteries. Embolising coils were preferably used to block actively bleeding vessels on angiography.

Results

Road traffic accidents were the etiology in 17 patients and fall from height (two), assault (one) and gunshot injury (one) in the rest. Twelve (52 %) patients showed active contrast extravasation on angiography. Active arterial bleeding was observed from branches of internal maxillary [11], facial [2] and lingual arteries [4]. Gel foam embolisation alone was done in 16 patients, coil embolisation alone in two patients and both coil and gel foam embolisation in three patients. The procedures were technically successful in twenty (95 %) patients. None of the patients had procedure related complications. Nine patients (42 %) succumbed to their associated injuries later, in which five patients had severe head injuries and four patients had history of hemorrhagic shock and cardiac arrest prior to the procedure.

Conclusion

Angio-embolisation is a safe and effective technique in managing intractable bleeding in maxillofacial injuries.

     

SCN8A heterozygous variants are associated with anoxic‐epileptic seizures

Anoxic‐epileptic seizures (AES) are rare outcomes of common childhood reflex anoxic syncope that trigger a true epileptic seizure. The term AES was coined by Stephenson in 1983, to differentiate these events from convulsive syncopes and the more common reflex anoxic syncopes. A genetic susceptibility for AES has been postulated; but, its molecular basis has up to now been elusive. We report here two illustrative cases and show the association of de novo SCN8A variants and AES. One of them had focal or generalized seizures and autonomic symptoms triggered by orthostatism; the second had breath‐holding spells triggered by pain or exercise leading to tonic–clonic seizures; both had repeatedly normal EEGs and a family history of reflex syncope. The data of three additional AES patients further suggest, for the first time, a link between SCN8A pathogenic variants and AES. The neurodevelopment of four patients was abnormal. Four of the five SCN8A mutations observed here were previously described in patients with seizure disorders. Seizures responded particularly well to sodium channel blockers. Our observation enriches the spectrum of seizures linked with SCN8A pathogenic variants.     

Evaluation of Severe Maternal Outcomes to Assess Quality of Maternal Health Care at a Tertiary Center

Background

Maternal mortality and near-miss index reflect the quality of care provided by a health facility. The World Health Organization recently published near-miss approach where strict near- miss criteria based on markers of organ dysfunction are defined.

Objectives

The aim of the study was to determine the frequency of severe maternal complications, maternal near-miss cases and maternal deaths, to analyze causes of near-miss and maternal mortality and to determine the values of maternal near-miss indicators.

Methods

This was a prospective observational study conducted at a tertiary care centre in North India from January 2012 – March 2013. WHO's near-miss approach was implemented for evaluation of severe maternal outcomes and to assess the quality of maternal health care.

Results

The number of women attending our facility with severe maternal complications was low (205 in 6,767 live births); as a result maternal near-miss ratio (MNMR) was low; 3.98/1,000 live births; Overall Maternal near-miss mortality ratio (MNM:1MD) was also low, 3.37:1, because of strict criterion of labeling near-miss and delay in referral to the hospital. Hypertensive disorder (37.5 %) was the commonest underlying cause for maternal mortality.

Conclusion

Basic implementation of WHO near-miss approach helped in the systematic identification and evidence-based management of severe maternal complications thereby improving the quality of maternal health in a developing country.

     

Safety of research bronchoscopy in critically ill patients

Objective

Bronchoscopy and bronchoalveolar lavage (BAL) are common procedures in intensive care units; however, no contemporaneous safety and outcomes data have been reported, particularly for critically ill patients.

Design

This is a retrospective analysis of prospectively collected data from teaching hospital adult intensive care units.

Interventions

One hundred mechanically ventilated patients with severe sepsis, septic shock, acute lung injury (ALI), and/or acute respiratory distress syndrome underwent bronchoscopy with unilateral BAL. Data collected included demographics, presence of sepsis or ALI, Pao₂ to Fio₂ ratio, positive end-expiratory pressure, Acute Physiology and Chronic Health Evaluation score, Sequential Organ Failure Assessment score, and peri- or postprocedural complications.

Results

Men comprised 51% of the patients; 81% of the patients were black, and 15% were white. The mean age was 52 (SD, ± 16) years. The mean Acute Physiology and Chronic Health Evaluation score was 22 (± 7.5), whereas the median Sequential Organ Failure Assessment score was 9 (interquartile range, 5-12). Ten patients (10%) had complications during or immediately after the procedure. Hypoxemia during or immediately after the BAL was the most common complication. Ninety percent of the complications were related to transient hypoxemia, whereas bradycardia and hypotension each occurred in 1 patient. Age, female sex, and higher positive end-expiratory pressure were associated with complications.

Conclusions

Bronchoscopy with BAL in critically ill patients with sepsis and ALI is well tolerated with low risk of complications, primarily related to manageable hypoxemia.     

A comparative efficacy of amitriptyline, gabapentin, and pregabalin in neuropathic cancer pain: a prospective randomized double-blind placebo-controlled study

Neuropathic pain is difficult to diagnose and difficult to treat with certainty. So the aim of the study was to evaluate comparative clinical efficacy of pregabaline with amitriptyline and gabapentin in neuropathic cancer pain. A total of 120 patients with cancer having severe neuropathic cancer pain were enrolled in the study after taking approval from Institutional Ethics Committee and divided in to 4 groups: group AT-amitriptyline, group GB-gabapentin, group PG-pregabalin, and group PL-placebo. Oral morphine was used for rescue analgesic for continued pain. Pain score (Visual Analogue scale) and secondary outcome measures such as intensity of lancinating, dysesthesia, and burning on numerical rating scale, Global satisfaction score (GSS), Eastern Co-operative Oncology Group scoring (ECOG), and adverse effects were assessed. At the end of study there was significant decrease in pain score in group PG as compared to the other groups; group AT (P = .003), group GB (P = .042), and group PL (P = .024). Percentage of patients with lancinating pain and dysesthesia were significantly less in group PG as compared to groups GB and PL. All the patients in group PL needed rescue morphine. After 4 visits, maximum improvement in ECOG scoring and GSS scoring was observed in group PG patients. Our results suggested that all antineuropathic drugs are effective in relieving cancer-related neuropathic pain. There was statistically and clinically significant morphine sparing effect of pregabaline in relieving neuropathic cancer pain and neuropathic symptoms as compared to other antineuropathic drugs.