Aggressive giant cystic lymphatic malformation in a newborn

Lymphatic malformations are uncommon, benign and congenital malformations of the lymphatic system exhibiting lack of development of communication between the lymphatic and venous circulation. We report the unusual case of rapidly expanding giant lymphatic malformation of the torso, bilateral axillae and left upper extremity of a newborn. As the first-line treatment, aspiration and sclerotherapy with bleomycin were performed. The sclerotherapy failed to cause regression of the mass, and rapid expansion of the malformation necessitated surgery. Partial resection of the mass was performed. Clinical symptoms of respiratory distress resolved in the early postoperative period, and the patient became hemodynamically stable. However, intrathoracic invasion of the mass developed, leading to restriction of thoracic expansion, ending in death. In conclusion, surgical treatment of giant lymphatic malformations remains challenging

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and striking condition characterized by complete absence of the nose with or without ocular defects. We report here that missense mutations in the epigenetic regulator SMCHD1 mapping to the extended ATPase domain of the encoded protein cause BAMS in all 14 cases studied. All mutations were de novo where parental DNA was available. Biochemical tests and in vivo assays in Xenopus laevis embryos suggest that these mutations may behave as gain-of-function alleles. This finding is in contrast to the loss-of-function mutations in SMCHD1 that have been associated with facioscapulohumeral muscular dystrophy (FSHD) type 2. Our results establish SMCHD1 as a key player in nasal development and provide biochemical insight into its enzymatic function that may be exploited for development of therapeutics for FSHD

Relationship of breast arterial calcification and radiotherapy

Objective: The purpose of this research is to compare the pre and post-radiotherapy mammograms of patients who had breast-conserving surgery (BCS) and radiotherapy to see how radiotherapy affects breast arterial calcifications (BAC). Methods: The study retrospectively compared the mammography examinations at least 24 months after radiotherapy and pre-radiotherapy mammography examinations of 123 female patients diagnosed with breast cancer and treated with BCS and radiotherapy between December 2001 and July 2011. Results: Breast arterial calcifications (BAC) increased statistically significantly in 25 patients who underwent radiotherapy after BCS. Conclusion: Our results indicate that BAC increases significantly after RT, especially in breasts treated with radiotherapy, with age being also a risk factor for BAC development

Congenital Maxillomandibular Syngnathia

Complex zygomaticomandibular syngnathia is an extremely rare condition with an unknown etiology. The main goal of the surgery is to release the ankylosis, establish good functioning mandible, and prevent reankylosis, if possible. In our case, we offer a new solution to have an adequate oral opening and to prevent reankylosis. After the release of bony syngnathia, we placed a distractor between mandibular segment and maxillozygomatic complex. To our best knowledge, this is the only syngnathia case in the literature treated using distraction techniques. There is a major improvement in the patient's status. Distraction may broaden our horizons in this rare and difficult-to-treat deformity

Three-Layer Oronasal Fistula Repair With Sandwiched Mastoid Fascia Graft

Oronasal fistula can cause speech problems, hearing loss, velopharyngeal insufficiency, and social problems related with fetor oris and oronasal fluid leakage. The purpose of this study was to achieve 3-layer closure with autogenous mastoid fascia graft in a group of patients with recalcitrant oronasal fistulas