X-linked myotubular myopathy in a family of two infant siblings: A case report and review.

X-linked myotubular myopathy (XLMTM) is a severe type of congenital skeletal muscle disorder usually presenting at birth requiring extensive resuscitation. While having phenotypic variability, its diagnosis carries a poor prognosis due to high rates of hospitalization and mortality by early infancy. Management of patients with XLMTM should therefore be guided by shared decision-making with parents, considering the severity and progression of the disease, quality of life, and demands on caregivers. We describe a family unit of two half-siblings presenting with the severe neonatal form of XLMTM, with varying prognosis and outcomes. Furthermore, a novel maternally-derived c.343-1G > A variant in intron-5 of the MTM1 gene was identified in this family. Hereby, we propose an algorithm for the management of XLMTM, outlining important considerations during the antenatal and postnatal follow-up period.

Serial tissue Doppler imaging in the evaluation of bronchopulmonary dysplasia-associated pulmonary hypertension among extremely preterm infants: a prospective observational study.

Objectives: To evaluate serial tissue Doppler cardiac imaging (TDI) in the evolution of bronchopulmonary dysplasia-associated pulmonary hypertension (BPD-PH) among extremely preterm infants. Design: Prospective observational study. Setting: Single-center, tertiary-level neonatal intensive care unit. Patients: Infant born <28 weeks gestation. Main outcome measures: Utility of TDI in the early diagnosis and prediction of BPD-PH and optimal timing for screening of BPD-PH. Results: A total of 79 infants were included. Of them, 17 (23%) had BPD-PH. The mean gestational age was 25.9 ± 1.1 weeks, and mean birth weight was 830 ± 174 g. The BPD-PH group had a high incidence of hemodynamically significant patent ductus arteriosus (83% vs. 56%, p < 0.018), longer oxygen days (96.16 ± 68.09 vs. 59.35 ± 52.1, p < 0.008), and prolonged hospital stay (133.8 ± 45.9 vs. 106.5 ± 37.9 days, p < 0.005). The left ventricular eccentricity index (0.99 ± 0.1 vs. 1.1 ± 0.7, p < 0.01) and the ratio of acceleration time to right ventricular ejection time showed a statistically significant trend from 33 weeks (0.24 ± 0.05 vs. 0.28 ± 0.05, p < 0.05). At 33 weeks, the BPD-PH group showed prolonged isovolumetric contraction time (27.84 ± 5.5 vs. 22.77 ± 4, p < 0.001), prolonged isovolumetric relaxation time (40.3 ± 7.1 vs. 34.9 ± 5.3, p < 0.003), and abnormal myocardial performance index (0.39 ± 0.05 vs. 0.32 ± 0.03, p < 0.001). These differences persisted at 36 weeks after conceptional gestational age. Conclusions: TDI parameters are sensitive in the early evolution of BPD-PH. Diagnostic accuracy can be increased by combining the TDI parameters with conventional echocardiographic parameters. BPD-PH can be recognizable as early as 33-34 weeks of gestation.

Acute aortic thrombosis following umbilical artery catheterisation in extremely low birthweight infants: walking the tight rope of management.

Umbilical artery catheterisation (UAC) is crucial in the management of clinically sick infants. One of its dreaded complications is aortic thrombus formation which accounts for significant morbidity and mortality. We present the case of a premature infant born at 32 weeks of gestation and with a birth weight of 960 gm, who developed signs of acute lower limb ischaemia following UAC cannulation. Ultrasound Doppler scan confirmed large aortic thrombus involving iliac arteries. Heparin infusion was started with clinical improvement over the next 12 hours and eventual complete resolution of clot size. This case underscores the importance of prompt detection of acute aortic thrombosis and cautions the use of heparin infusion in preterm infants can be lifesaving. Management can be challenging as risk of bleeding from anticoagulation and thrombolytic therapy can be catastrophic in extreme low birthweight premature infants and need to weigh with risk of severe intravascular haemorrhage.

Case report: Congenital palatal teratoma (epignathus) leading to neonatal airway obstruction.

INTRODUCTION AND IMPORTANCE: Congenital teratomas arising from the oropharynx, also known as epignathus, are exceedingly rare tumours occurring in 1:35,000-200,000 live births. Although histologically benign, these tumours are often difficult to diagnose antenatally and can cause life-threatening airway obstruction in the newborn. CASE PRESENTATION: We present a case of a full-term female infant presenting at birth with respiratory distress and stridor. Clinical examination and magnetic resonance imaging showed a large multilobulated nasopharyngeal mass causing severe airway compromise. The infant underwent excision biopsy with partial debulking of the tumour surrounding the airway, and was successfully extubated thereafter to room air. Histopathological examination confirmed the diagnosis of mature teratoma. CLINICAL DISCUSSION: The pathophysiology of epignathus is thought to be aberrant proliferation of pluripotent cells in the notochord during early embryogenesis. Antenatally, elevated maternal alpha-fetoprotein or polyhydramnios may be clue to diagnosis. The mainstay of treatment is airway clearance with surgical resection, which can be curative or at least minimizes the risk of malignancy. CONCLUSION: This case highlights the importance of early recognition and multidisciplinary management of the neonatal airway, in order to improve outcome.

Use of web-based game in neonatal resuscitation - is it effective?

BACKGROUND: Knowledge and skills decline within months post simulation-based training in neonatal resuscitation. To empower 'Millennial' learners to take control of their own learning, a single-player, unguided web-based Neonatal Resuscitation Game was designed. The present study investigates the effectiveness of the game on retention of resuscitation knowledge and skills. METHODS: The study evaluated 162 healthcare professionals who attended simulation-based training in neonatal resuscitation. Following standard simulation-based training, participants were assigned to either a gaming group (Gamers) with access to the web-based Neonatal Resuscitation Game or a control group (Controls) with no access to the game. Although Gamers were given access, game utilization was completely voluntary and at will. Some Gamers chose to utilize the web-based game (Players) and others did not (Non-players). Knowledge and skills in neonatal resuscitation were assessed upon completion of training and 6 months post-training using a multiple-choice question test and a manikin-based skills test. Changes in scores were compared statistically between Gamers vs Controls, Players vs Controls, and Players vs Controls + Non-players using two-sample t-tests. RESULTS: At the final assessment, declines in knowledge scores were seen in all groups. Mean change from baseline in knowledge and skill performance scores at 6 months, adjusted for baseline skill performance and MCQ test scores, did not differ significantly between Players vs Controls and Players vs Controls + Non-players. CONCLUSION: The web-based game in its current format may not be effective in facilitating retention of knowledge and technical skills in neonatal resuscitation.

Maternal Pseudo-Bartter Syndrome Associated with Severe Perinatal Brain Injury.

BACKGROUND: Maternal electrolyte imbalance is rarely reported as causative factor of severe perinatal brain injury. CASE CHARACTERISTICS: This case outlines a unique maternal and neonatal pseudo-Bartter syndrome presented with metabolic alkalosis and hypochloremia due to maternal severe vomiting. OBSERVATION: Neonatal MRI brain revealed extensive brain hemorrhages with porencephalic cysts. Subsequent investigation workup points towards maternal severe metabolic alkalosis as its cause. MESSAGE: Careful medical attention should be paid to pregnant women with excessive vomiting to ensure a healthy outcome for both the mother and the baby.

Hyperinsulinemic Hypoglycemia in Infancy: Current Concepts in Diagnosis and Management.

PURPOSE: Molecular basis of various forms of hyperinsulinemic hypoglycemia, involving defects in key genes regulating insulin secretion, are being increasingly reported. However, the management of medically unresponsive hyperinsulinism still remains a challenge as current facilities for genetic diagnosis and appropriate imaging are limited only to very few centers in the world. We aim to provide an overview of spectrum of clinical presentation, diagnosis and management of hyperinsulinism. METHODS: We searched the Cochrane library, MEDLINE and EMBASE databases, and reference lists of identified studies. CONCLUSION: Analysis of blood samples, collected at the time of hypoglycemic episodes, for intermediary metabolites and hormones is critical for diagnosis and treatment. Increased awareness among clinicians about infants at-risk of hypoglycemia, and recent advances in genetic diagnosis have made remarkable contribution to the diagnosis and management of hyperinsulinism. Newer drugs like lanreotide a long acting somatostatin analogue and sirolimus (mammalian target of rapamycin (mTOR) inhibitor) appears promising as patients with diffuse disease can be treated successfully without subtotal pancreatectomy, minimizing the long-term sequelae of diabetes and pancreatic insufficiency. Newer insights in understanding the molecular and histological basis and improvements in imaging and surgical techniques will modify the approach to patients with congenital hyperinsulinism.

Passive RFID tag based heart rate monitoring from an ECG signal.

In this paper, we propose a monitoring system that employs a passive RFID tag to transmit heart rate using an ECG signal as its source. This system operates without a battery and has been constructed with easily available commercial components. Here, an RFID tag is used as an on-off keying device, wherein it is normally transmitting, but turns off every time a heart beat is detected. Heart beats ranging from 30BPM through 300BPM are successfully measured using our device. It is shown that the system is capable of providing accurate heart rate measurements up to a distance of ten feet with a standard deviation of less than one beat per minute without a local power source. The proposed system is also found to be resilient in the presence of an additional RFID tag.

Radial artery pseudoaneurysm in a neonate with hemophilia A.

BACKGROUND: Pseudoaneurysm formation is a rare complication of arterial puncture. CASE CHARACTERISTICS: 3-week-old male developed an enlarging mass over the anterior aspect of left wrist following radial arterial puncture. OBSERVATION: Doppler ultrasonography revealed mass to be left radial arterial pseudoaneurysm. Subsequent presentation of ecchymoses and investigations confirmed factor VIII deficiency (Hemophilia A). OUTCOME: Pseudoaneurysm removed with primary end to end anastomosis. Patient is presently on regular factor VIII replacement therapy. MESSAGE: Hemophilia A can present as pseudoaneurysm in neonatal period.