Effect of Early Corticosteroid Therapy for Landau-Kleffner Syndrome

Four children treated for seizures between 1980 and 1986 were diagnosed as having Landau-Kleffner syndrome (acquired aphasia with convulsive disorder), following the onset of aphasia. They received early and prolonged ACTH or corticosteroid therapy, with high initial doses. In all four cases the EEG promptly became normal, with subsequent long-lasting remission of the aphasia and improvement of seizure control. Three to six years after discontinuation of hormone therapy the children are off medication and free from seizures and language disability.     

New findings in a patient with Dubowitz syndrome: velopharyngeal insufficiency and hypoparathyroidism

We report on a boy with Dubowitz syndrome and hypoparathyroidism from which he recovered, only to redevelop it at 6 years. He also had a submucous cleft palate and cineradiographic studies showed velopharyngeal insufficiency. Although a submucous cleft palate is a well-known manifestation of Dubowitz syndrome, velopharyngeal insufficiency has not been previously described.     

A benign congenital myopathy in an inbred Samaritan family.

We describe a novel form of myopathy in a mother and her two daughters from an inbred Samaritan family. The patients displayed severe neonatal hypotonia, lethargy and dysmorphic features. Motor milestones were delayed; however, the hypotonia and muscle weakness gradually improved during the first 2 years of life and independent walking was achieved by 18 months. The mother at the age of 23 years shows myopathic facies and minimal proximal weakness. Her intelligence is normal. Her muscle biopsy revealed central nuclei and disruption of the intermyofibrillary network with moth eaten and spiral fibers. Mutations in SMN, MTM1 and the myotonic dystrophy genes were excluded. We suggest this is a new benign form of congenital myopathy. Inheritance is probably autosomal recessive.     

Eating Nutritiously on the Road

Progress in making sports medicine a specialty has been spotty because the filed lacks definition and full-tome physicians.     

Phosphorylation of Ribosomal Protein S6 Mediates Mammalian Target of Rapamycin Complex 1–Induced Parathyroid Cell Proliferation in Secondary Hyperparathyroidism

Secondary hyperparathyroidism is characterized by increased serum parathyroid hormone (PTH) level and parathyroid cell proliferation. However, the molecular pathways mediating the increased parathyroid cell proliferation remain undefined. Here, we found that the mTOR pathway was activated in the parathyroid of rats with secondary hyperparathyroidism induced by either chronic hypocalcemia or uremia, which was measured by increased phosphorylation of ribosomal protein S6 (rpS6), a downstream target of the mTOR pathway. This activation correlated with increased parathyroid cell proliferation. Inhibition of mTOR complex 1 by rapamycin decreased or prevented parathyroid cell proliferation in secondary hyperparathyroidism rats and in vitro in uremic rat parathyroid glands in organ culture. Knockin rpS6^p−/− mice, in which rpS6 cannot be phosphorylated because of substitution of all five phosphorylatable serines with alanines, had impaired PTH secretion after experimental uremia- or folic acid–induced AKI. Uremic rpS6^p−/− mice had no increase in parathyroid cell proliferation compared with a marked increase in uremic wild–type mice. These results underscore the importance of mTOR activation and rpS6 phosphorylation for the pathogenesis of secondary hyperparathyroidism and indicate that mTORC1 is a significant regulator of parathyroid cell proliferation through rpS6.     

Resolution of epileptic encephalopathy following treatment with transdermal nicotine

We report resolution of an epileptic encephalopathy by administration of transdermal nicotine patches in an adolescent with severe nonlesional refractory frontal lobe epilepsy. The 18.5‐year‐old female patient had refractory epilepsy from the age of 11. Recurrent electroencephalography (EEG) recordings showed mostly generalized activity, albeit with right frontal predominance. Almost all antiepileptic medications failed to provide benefit. She developed an encephalopathic state with cognitive decline. The nonlesional frontal lobe epilepsy and a family history of a cousin with nocturnal epilepsy with frontal origin suggested genetic etiology. Transdermal nicotine patches brought complete resolution of the seizures, normalization of the EEG, and a significant improvement in her thinking process and speech organization. Sequencing of the CHRNB2 and CHRNA4 genes did not detect a mutation. Transdermal nicotine patches should be considered in severe pharmacoresistant frontal lobe epilepsy.     

The risks of radiation therapy and lymphedema in shoulder surgery

BackgroundRadiation therapy has proven efficacy for cancer treatment but is not without short- and long-term side effects, including radiation-induced lymphedema. There has been limited evidence on the secondary effects of prior radiation therapy on shoulder surgery. The purpose of this study is to evaluate the short-term outcomes of shoulder arthroplasty and rotator cuff repair (RCR) in patients who have undergone ipsilateral radiation therapy and/or have preoperative upper extremity lymphedema.MethodsDuke Enterprise Data Unified Content Explorer was used to query for patients who underwent RCR at our institution. Patients with radiation therapy for breast or lung cancer prior to ipsilateral RCR or shoulder arthroplasty were included. Patients with less than 2 years of follow-up were excluded. Data variables included primary tumor type, dates of cancer diagnoses, radiation treatment, axillary lymph node dissection (aLND), presence of lymphedema, index shoulder operations, most recent follow-up, and surgical and medical complications within the 90-day postoperative period. Additional oncologic variables included total Gray (Gy) delivered.ResultsTwenty-one patients underwent radiation therapy and subsequent shoulder arthroplasty or RCR (13 RCR, 3 total shoulder arthroplasty, 5 reverse shoulder arthroplasty). There were 20 females and 1 male with an average age of 65.6 years (47-82) and average clinical follow-up of 4.4 years (2.0-7.4). Oncologic diagnoses included lung (4.8%) and breast (95.2%) cancer. Average radiation dose delivered was 53.3 Gy (38.5-64) in the cohort. The average time from last external beam radiation therapy to shoulder surgery was 4.3 years (0.3-18.0). One of 13 (7.7%) 90-day postoperative complications was reported in the RCR cohort: a superficial vein thrombosis. One of 8 (12.5%) 90-day complications was reported in the arthroplasty cohort: a clinically suspected but radiographically absent acromial stress fracture in a reverse shoulder arthroplasty that did not require operative intervention. Overall, there were no revisions, reoperations, or shoulder-related unplanned inpatient 90-day readmissions. Among 10 patients with prior aLND, 3 (30%) (2 RCR, 1 arthroplasty) experienced new or worsening upper extremity lymphedema within the immediate postoperative period.ConclusionA minority of patients having undergone prior radiation therapy and aLND who subsequently underwent ipsilateral shoulder surgery experienced worsening subjective upper extremity lymphedema. Although 10% of these radiation therapy patients experienced minor complications within 90 days of their shoulder surgery, none were severe enough to merit inpatient admission or revision surgery.