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. The Australian focused guidelines presented here are designed to complement those existing guidelines. They aim to provide core care recommendations for families and clinicians, consolidate key resources for the management of children with achondroplasia, facilitate communication between specialist, local teams and families and support delivery of high-quality care regardless of setting and geographical location. The guidelines include a series of consensus statements, developed using a modified Delphi process. These statements are supported by the best available evidence assessed using the National Health and Medicine Research Council's criteria for Level of Evidence and their Grading of Recommendations Assessment, Development and Evaluation (GRADE). Additionally, age specific guides are presented that focus on the key domains of growth, medical, development, psychosocial and community. The guidelines are intended for use by health professionals and children and young people with achondroplasia and their families living in Australia.

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. We report the case of a woman presenting with thrombocytosis that led to the diagnosis of multiple myeloma. The possible etiological link between both these entities is also discussed.

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. One hundred thirty-seven patients underwent successful S-ICD implantation during the study period. The most common indication for implantation was primary prevention of sudden cardiac death. In 24 (17.5%) patients, warfarin was continued without any interruption (warfarin group). In 113 (82.5%) patients, no warfarin was used in the perioperative period (nonwarfarin group). The incidence of clinically significant lateral pocket hematoma was compared in the 2 groups. RESULTS: The mean international normalized ratio was 1.83 ± 0.47 in the warfarin group and 1.09 ± 0.18 in the nonwarfarin group. A total of 8 patients developed a hematoma at the lateral pocket. No patient developed a hematoma at the parasternal pockets. Six patients (25%) in the warfarin group and 2 (1.5%) in the nonwarfarin group developed a significant lateral pocket hematoma (P = .001). The mean length of stay was longer in the warfarin group (1.23 ± 0.46 days) than in the nonwarfarin group (1.02 ± 0.18 days) (P = .0008). An international normalized ratio of >1.8 predicted the risk of hematoma. The concomitant use of dual antiplatelet therapy did not increase the risk of hematoma. None of the patients with a hematoma developed infection or required hematoma evacuation. CONCLUSION: Uninterrupted warfarin in the perioperative period during S-ICD implantation is associated with an increased risk of significant lateral pocket hematoma that results in prolonged hospital stay.

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. We present a case of a neonate with LPL deficiency and grossly elevated plasma triglyceride levels, presenting with recurrent and recalcitrant perianal abscesses suggestive of underlying immunodeficiency. With reduced levels of plasma triglycerides, the recurrent perianal infections resolved. This case report reviews evidence for potential deleterious effects of hypertriglyceridaemia on immune function, however, underlying mechanisms are poorly understood. Whether hypertriglyceridaemia contributes to immune dysfunction in this context is unknown. If there is a pathophysiological link, this may have implications for hypertriglyceridaemia management.

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. HYPOTHESIS: Patients undergoing ACLR with autografts versus nonirradiated allografts will demonstrate no significant differences in graft failure risk, laxity on postoperative physical examination, or differences in patient-oriented outcome scores. STUDY DESIGN: Systematic review. METHODS: A systematic review was performed to identify prospective or retrospective comparative studies (evidence level 1, 2, or 3) of autografts versus nonirradiated allografts for ACLR. Outcome data included graft failure based on clinical findings and instrumented laxity, postoperative laxity on physical examination, and patient-reported outcome scores. Studies were excluded if they did not specify whether the allograft had been irradiated. Quality assessment and data extraction were performed by 2 examiners. RESULTS: Nine studies comparing autografts and nonirradiated allografts were included. Six of the 9 studies compared bone-patellar tendon-bone (BPTB) autografts with BPTB allografts. Two studies compared hamstring tendon autografts to hamstring tendon allografts, and 1 study compared hamstring tendon autografts to tibialis anterior allografts. The mean patient age in 7 of 9 studies ranged from 24.5 to 32 years, with 1 study including only patients older than 40 years and another not reporting patient age. The mean follow-up duration was 24 to 94 months. Six of 9 studies reported clinical graft failure rates, 8 of 9 reported postoperative instrumented laxity measurements, 7 of 9 reported postoperative physical examination findings, and all studies reported patient-reported outcome scores. This review demonstrated no statistically significant difference between autografts and nonirradiated allografts in any outcome measure. CONCLUSION: No significant differences were found in graft failure rate, postoperative laxity, or patient-reported outcome scores when comparing ACLR with autografts to nonirradiated allografts in this systematic review. These findings apply to patients in their late 20s and early 30s. Caution is advised when considering extrapolation of these findings to younger, more active cohorts.

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. Methotrexate levels can help guide intrathecal dosing of methotrexate, but no such test is commercially available for cytarabine. There are no standardized treatment recommendations for the management of this medical emergency. Intrathecal methotrexate overdose has been variously treated with cerebrospinal fluid drainage or exchange. Ventriculo-lumbar perfusion, steroids and leucovorin have also been used. It seems crucial to quickly remove as much drug as possible from the cerebrospinal fluid. Our patient was successfully treated with large-volume cerebrospinal fluid aspiration through an Ommaya reservoir. She did not suffer any significant immediate or late complications at 4 months of follow-up.

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. The absence of PR is attributable to low serum estrogen, low levels of nuclear ER, and features of molecular crosstalk between GFs and membranous ER. PR expression is also downregulated by expression of mutated epidermal growth factor receptor (EGFRvIII). This subset of patients has greater expression of human epidermal growth factor receptor (HER)-1 and HER-2 and active GF signaling mediated by the phosphoinositide 3-kinase-Akt-mammalian target of rapamycin pathway. Currently, aromatase inhibitors, fulvestrant, and chemotherapy may be the favored treatment approaches for this subset of patients. Overcoming tamoxifen resistance with targeted therapies such as gefitinib is being evaluated and strategies involving short courses of tamoxifen have been postulated for prevention of recurrence of this subtype. Understanding the interplay between molecular endocrinology and tumor biology has provided experimental therapeutic insights, and continued work in this area holds the promise of future advances in prognosis.

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.