Australian guidelines for the management of children with achondroplasia.

Achondroplasia is the most common form of skeletal dysplasia. In addition to altered growth, children and young people with achondroplasia may experience medical complications, develop and function differently to others and require psychosocial support. International, European and American consensus guidelines have been developed for the management of achondroplasia.

Thrombocytosis as an Initial Presentation of Plasma Cell Neoplasm: A Case Report.

Plasma cell neoplasms are usually associated with normal or decreased platelet count. The association of thrombocytosis and multiple myeloma is exceedingly rare, with only six such cases reported in the literature until now. Differentiating clonal from secondary causes of thrombocytosis can be extremely difficult, yet the distinction has important therapeutic implications.

Perioperative management of oral anticoagulation in patients undergoing implantation of subcutaneous implantable cardioverter-defibrillator.

Background: The perioperative anticoagulation management during subcutaneous implantable cardioverter-defibrillator (S-ICD) implantation is still evolving.

Objective: The purpose of this study was to assess whether it is safe to perform S-ICD implantation with uninterrupted warfarin.

Methods: This is a single-center retrospective review of patients undergoing S-ICD implantation between October 1, 2012 and June 30, 2017.

Lipoprotein lipase deficiency presenting with neonatal perianal abscesses.

Lipoprotein lipase (LPL), a member of the triglyceride lipase gene family, is synthesised by parenchymal cells of the heart, skeletal muscle and adipose tissues before being transported to luminal surfaces of vascular endothelial cells to exert its main physiological function to hydrolyse plasma lipoproteins. LPL deficiency is a rare autosomal recessive disorder, resulting in severe hypertriglyceridaemia from birth. The effect of marked hypertriglyceridaemia on the immune function in children has not been described.

Autograft versus nonirradiated allograft tissue for anterior cruciate ligament reconstruction: a systematic review.

Background: An autograft has traditionally been the gold standard for anterior cruciate ligament reconstruction (ACLR), but the use of allograft tissue has increased in recent years. While numerous studies have demonstrated that irradiated allografts are associated with increased failure rates, some report excellent results after ACLR with nonirradiated allografts. The purpose of this systematic review was to determine whether the use of nonirradiated allograft tissue is associated with poorer outcomes when compared with autografts.

Successful large-volume cerebrospinal fluid aspiration for an accidental overdose of intrathecal cytarabine.

Intrathecal therapy with cytarabine is widely used in the treatment of acute lymphocytic leukemia. We report the first case of accidental intrathecal cytarabine overdose in an adult patient. Overdose of intrathecal chemotherapy has been reported to cause severe neurological damage including seizures, coma and death.

Inguinal lymph node metastasis of colon cancer.

We present a case of adenocarcinoma of colon with unusual metastasis to inguinal lymph nodes. Our patient is a young male with bilateral inguinal lymphadenopathy, bone pains, and jaundice who presented as carcinoma of unknown primary. He was diagnosed as widely metastatic adenocarcinoma of colon for which he received chemotherapy and has had a good response to the treatment.

A review of an unfavorable subset of breast cancer: estrogen receptor positive progesterone receptor negative.

Estrogen receptor (ER)(+) progesterone receptor (PR)(-) tumors are a distinct subset of breast cancers characterized by aggressive behavior and tamoxifen resistance in spite of being ER(+). They are categorized as luminal B tumors and have greater genomic instability and a higher proliferation rate. High growth factor (GF) signaling and membranous ER activity contribute to the aggressive behavior of these tumors.