Bilateral occurrence of pheochromocytoma in patients with the multiple endocrine neoplasia syndrome type 2A (Sipple's syndrome)

Two kindreds with the multiple endocrine neoplasia type 2A syndrome were studied. Of one of these we examined 150 members, 20 of whom were treated with thyroidectomy for medullary carcinoma and nine with bilateral adrenalectomy for pheochromocytoma. Of the second kindred 59 members were examined, seven of whom were thyroidectomized and seven treated with bilateral adrenalectomy. Pheochromocytomas were invariably found on both sides, even in four cases in which the adrenals on one side appeared to be completely normal, not only at preoperative roentgenologic examination but also on inspection during the operation. The microscopic finding of micronodules and a cluster of abnormal medullary cells identical with those found in pheochromocytomas in one of the apparently normal adrenals represents a first stage in the development of diffuse medullary hyperplasia as well as nodular hyperplasia. This is in accordance with the fact that in the MEN type 2A syndrome pheochromocytomas are always multicentric and multiple in origin. On the basis of these findings we conclude that all patients with the MEN 2A syndrome who show symptoms and signs of active pheochromocytoma should be subjected to bilateral adrenalectomy, even when one or both of the adrenals appear to be normal at roentgenologic investigation.     

Prevalence of Rotator Cuff Repairs with and Without Concomitant Subacromial Decompressions Has Not Changed

Background

Recent research from the American Board of Orthopaedic Surgery database indicates a decreasing rate of subacromial decompression (SAD) performed with rotator cuff repair (RCR) by younger orthopedic surgeons.

Questions/Purposes

The purpose of this study was to determine the rate of RCR with and without SAD and whether the rate of RCR with SAD decreased over time. Further, we set out to determine if there was significant variation in the rate of RCR with SAD by state.

Methods

Rates of RCR with and without open or arthroscopic SAD from 2010 to 2012 were determined based upon de-identified data from a national health insurance carrier. Data were normalized per 10,000 insured patients for comparative analysis.

Results

Rates of RCR with concomitant SAD were higher than RCR without SAD in each year analyzed. In patients 50 years old and older, this same significant difference was also seen for each year. The rate of RCR with or without SAD did not decrease over the 3-year time period. The rate of RCR performed concomitantly with SAD was significantly higher than RCR performed without SAD in all patient age groups combined. There was wide variation in the rate of RCR with or without concurrent SAD across states.

Conclusion

Disproving our hypothesis, the overall rate of RCR with or without SAD did not decrease over the period from 2010 to 2012. There was wide variation in the rate of RCR by state; however, this variation was not seen in the incidence of SAD performed concomitant with the RCR.

     

Pulsatile masses surrounding vascular prostheses: real-time US color flow imaging

A prospective evaluation of color flow mapping and real-time ultrasound was performed to determine if pseudoaneurysms could be distinguished from other causes of masses surrounding vascular grafts of the lower extremities. Twelve palpable pulsatile masses were imaged. Diagnoses were confirmed at angiography (n = 11), computed tomography (n = 7), aspiration biopsy (n = 5), and operative intervention (n = 6). A swirling pattern of blood flow was seen in six of seven cases of pseudoaneurysm. Lack of flow signals was noted in four of the five collections representing hematoma (n = 2) or infection (n = 2). The seventh case was later shown to be an infected, thrombosed pseudoaneurysm. The single false-positive diagnosis was made early in the series when the flow signals detected were due to transmitted arterial pulsations. The authors conclude that color Doppler flow imaging is useful in the differential diagnosis of pulsatile masses associated with prosthetic grafts. Prosthetic graft pseudoaneurysms have a specific appearance of swirling blood flow arising from a wide neck and are distinguishable from traumatic or iatrogenic pseudoaneurysms of the native vascular tree.     

Pulmonary histiocytosis X: comparison of radiographic and CT findings

The authors retrospectively evaluated radiographs, computed tomographic (CT) scans, and results of pulmonary function tests (when available) for 17 patients with biopsy-proved pulmonary histiocytosis X. In 11 patients, high-resolution CT was used. In 12 patients, CT demonstrated cystic air spaces, usually less than 10 mm in diameter. In three of these 12, cysts were the only abnormality, but in six others, nodules (usually less than 5 mm in diameter) were also present. Two patients had only nodules and one, only emphysema. CT showed that many lesions that appeared reticular on plain radiographs were actually cysts. CT showed no central or peripheral concentration of lesions, but it did reveal that many small nodules were distributed in the centers of secondary lobules around small airways. CT findings correlated better with the diffusing capacity (rho = -0.71) than did the plain radiographic findings (rho = -0.57). Thus, CT was better than radiography at showing the morphology and distribution of lung abnormalities.     

Does prophylactic sotalol and magnesium decrease the incidence of atrial fibrillation following coronary artery bypass surgery: a propensity-matched analysis

Background  

Atrial fibrillation can occur in up to 40% of patients undergoing coronary surgery.     

DCC gene network in the prefrontal cortex is associated with total brain volume in childhood

BackgroundGenetic variation in the guidance cue DCC gene is linked to psychopathologies involving dysfunction in the prefrontal cortex. We created an expression-based polygenic risk score (ePRS) based on the DCC coexpression gene network in the prefrontal cortex, hypothesizing that it would be associated with individual differences in total brain volume.MethodsWe filtered single nucleotide polymorphisms (SNPs) from genes coexpressed with DCC in the prefrontal cortex obtained from an adult postmortem donors database (BrainEAC) for genes enriched in children 1.5 to 11 years old (BrainSpan). The SNPs were weighted by their effect size in predicting gene expression in the prefrontal cortex, multiplied by their allele number based on an individual’s genotype data, and then summarized into an ePRS. We evaluated associations between the DCC ePRS and total brain volume in children in 2 community-based cohorts: the Maternal Adversity, Vulnerability and Neurodevelopment (MAVAN) and University of California, Irvine (UCI) projects. For comparison, we calculated a conventional PRS based on a genome-wide association study of total brain volume.ResultsHigher ePRS was associated with higher total brain volume in children 8 to 10 years old (β = 0.212, p = 0.043; n = 88). The conventional PRS at several different thresholds did not predict total brain volume in this cohort. A replication analysis in an independent cohort of newborns from the UCI study showed an association between the ePRS and newborn total brain volume (β = 0.101, p = 0.048; n = 80). The genes included in the ePRS demonstrated high levels of coexpression throughout the lifespan and are primarily involved in regulating cellular function.LimitationsThe relatively small sample size and age differences between the main and replication cohorts were limitations.ConclusionOur findings suggest that the DCC coexpression network in the prefrontal cortex is critically involved in whole brain development during the first decade of life. Genes comprising the ePRS are involved in gene translation control and cell adhesion, and their expression in the prefrontal cortex at different stages of life provides a snapshot of their dynamic recruitment.     

Cochlear implantation in patients with substantial residual hearing

OBJECTIVES: Cochlear implantation is an effective means for providing auditory rehabilitation in adult patients with severe to profound sensorineural hearing loss. It has been hypothesized that patients with substantial, preoperative residual hearing would be excellent cochlear implant candidates because of surviving neural populations and a lack of auditory deprivation. The purpose of this study is to describe the outcomes of patients with substantial residual hearing who have undergone cochlear implantation. STUDY DESIGN: Retrospective chart review of patients with substantial preoperative residual hearing who underwent cochlear implantation. METHODS: Chart reviews were completed for patients with substantial residual hearing who underwent cochlear implantation (City University of New York Sentence Test [CUNY] > 60%, Hearing in Noise Test sentences presented in quiet [HINTQ] > 50%, or Consonant-Nucleus-Consonant [CNC] > 20% in the ear to be implanted). Preoperative and postoperative measures of audiologic performance as well as complications were assessed. RESULTS: All 12 patients who met inclusion criteria ultimately surpassed their preoperative aided performance level after implantation and gained significant benefit from their cochlear implant. At 6 months postimplantation, mean CUNY, HINTQ, and CNC scores were 93%, 78%, and 48% in the implant ear alone, respectively. However, progress was slower than expected for many patients, and at least one patient took 1 year to surpass his preoperative performance level. There were no complications from surgery in this selected group of patients. CONCLUSIONS: Patients with some degree of residual hearing do benefit from cochlear implantation. However, there may be an initial decline in performance as compared with preoperative levels. This decline is overcome in time in this patient population. These patients need to be counseled accordingly.