Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare and lethal developmental disorder of the lung defined by a constellation of characteristic histopathological features. Non-pulmonary anomalies involving organs of gastrointestinal, cardiovascular, and genitourinary systems have been identified in approximately 80% of patients with ACD/MPV. We have collected DNA and pathological samples from more than 90 infants with ACD/MPV and their family members. Since the publication of our initial report of four point mutations and ten deletions, we have identified an additional thirty eight novel nonsynonymous mutations of FOXF1 (nine nonsense, seven frameshift, one inframe deletion, twenty missense, and one no stop). This report represents an up to date list of all known FOXF1 mutations to the best of our knowledge. Majority of the cases are sporadic whereas four familial cases with three showing maternal inheritance, consistent with paternal imprinting of the gene. Twenty five mutations (60%) are located within the putative DNA binding domain, indicating its plausible role in gene regulation. Five mutations map to the second exon. We identified two additional genic and eight genomic deletions upstream to FOXF1. These results corroborate and extend our previous observations and further establish involvement of FOXF1 in ACD/MPV and lung organogenesis.

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Laparoscopic cholecystectomy has become the surgical procedure of choice for individuals with symptomatic gallbladder disease. The procedure has gained popularity among surgeons and patients because of inconspicuous abdominal incisions/scars, less postoperative pain, shorter hospitalization, and reduced medical costs. Bile duct, vascular, and gastrointestinal iatrogenic injuries are major complications. We describe the case of a 50-year-old woman who died of CO2 embolism during elective laparoscopic cholecystectomy for symptomatic cholelithiasis. With the patient under general anesthesia, a 1.5 cm incision was made just below the umbilicus, and a pneumoperitoneum was created by CO2 insufflation with a pneumoperitoneum (modified Veress) needle. Immediately, she experienced a cardiopulmonary arrest and could not be resuscitated. At autopsy, air bubbles were admixed with blood in the epicardial veins and leptomeningeal blood vessels. A triangular 0.1 cm perforation in the left common iliac vein had been created by the pneumoperitoneum needle. A pneumoperitoneum is required for laparoscopy and CO2 is the most commonly used gas. Carbon dioxide is highly soluble in blood and fairly innocuous to the peritoneum. Small amounts absorbed into the circulation cause slight increases in arterial and alveolar CO2 and in central venous pressure. When CO2 enters the venous circulation through iatrogenically opened vascular channels, catastrophic and potentially fatal hemodynamic and respiratory compromise may result.