Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) describes a group of developmental disorders affecting the lungs with its pulmonary vasculature. Mutations in the FOXF1 gene have been reported in most cases, and extrapulmonary findings were described.We present two patients with ACDMPV and FOXF1 mutations that illustrate the variability in presentation and outcome of their disease. Patient 1 was a full-term infant with imperforate anus and pulmonary hypertension. He required Extracorporeal Membrane Oxygenation on day of life (DOL) 3, and passed away on DOL 13 after no clinical improvement. Postmortem findings were consistent with ACDMPV. FOXF1 testing revealed a heterozygous pathogenic frameshift de novo mutation, c.1057_1078dup, p.(Gly360Valfs*58). Patient 2 is a 6-month-old female, with a small omphalocele. She had intermittent retractions at 1 week of age. She was admitted with pulmonary hypertension at 7 weeks of age. Lung biopsy confirmed ACDMPV. FOXF1 testing revealed a de novo, heterozygous likely pathogenic missense mutation c.253T>C, p.(Phe85Leu]).Our two patients had different presentations, ages of onset, and progression of their disease.Our second patient had patchy lung involvement on biopsy, which may explain the relatively delayed onset and longer survival. ACDMPV is an important consideration for full-term infants with worsening pulmonary hypertension early in life. K E Y W O R D S alveolar capillary dysplasia with misalignment of pulmonary veins, FOXF1, pulmonary hypertension
The study concludes that this "octa shot" is an effective palliative radiotherapy schedule. With a decreased duration of hospital stay, it is also favorable for outpatients.
BACKGROUND Sepsis is a life-threatening condition caused by a dysregulated host response to infection. About 2 million cases of sepsis occur annually in United States. The clinical features include signs of infection with organ dysfunction. Magnesium (Mg) is a vital cation for immune system in fighting against infection via inflammatory response and nitric oxide production. Studies have shown that hypomagnesemia is a potential risk factor of infections thereby resulting in sepsis. The present study was undertaken to evaluate the serum magnesium level, its manifestation and outcome among sepsis patients. METHODS The study included 100 patients of sepsis admitted over a period of 18 months. Various data such as clinical history, examination, serum magnesium level and other necessary parameters of the patients included in the study were analysed using simple statistical methods. RESULTS The mean age of the study population was 62.300 ± 11.4623 years. 63% were male and 37% female. Among study population, 39%, 46% and 15% patients were diagnosed as hypomagnesaemic, normomagnesaemic and hypermagnesaemic respectively. The mortality rate was 76%, 18% and 5% among hypomagnesaemic, normomagnesaemic and hypermagnesaemic patients respectively. Significantly greater mortality and high SOFA score were observed among hypomagnesaemic group. CONCLUSIONS The incidence of hypomagnesemia is common in sepsis patients. It is mandatory to monitor serum magnesium levels in sepsis patients in order to prevent the serious manifestations of hypomagnesemia thereby influencing the final outcome.
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