Bilateral Retinoblastoma: A Dominantly Inherited Affection

Ten survivors of sporadic bilateral retinoblastoma had 14 offspring, of whom eight were affected, seven of them in both eyes. Other reports from the literature raise the total of similar unselected cases to 19 survivors with a total of 39 offspring, of whom 17 were affected in both eyes and three in one eye.The high incidence of the bilateral affection in dominantly inherited retinoblastoma—as recorded in the literature—and in the offspring of survivors from sporadic bilateral retinoblastoma, as reported in the present study, establish all cases of bilateral retinoblastoma as a dominant disorder either in transmission or as a new mutation. This disorder, though fully or almost fully penetrant, is not always fully expressed. A small proportion, probably about 5 to 10% of all cases of the much more common sporadic unilateral affection, are in fact incompletely expressed germinal mutations for bilateral retinoblastoma. There is some evidence that histological appearances may distinguish these potentially transmissible unilateral tumours from the mass of unilateral retinoblastoma which have no genetic significance.     

A case of bilateral tibial hemimelia type VIIa

Congenital absence of tibia is a rare anomaly, and may be total or partial, unilateral or bilateral. Total absence is more frequent than partial, unilateral absence occurs more often than bilateral, with right limb more commonly affected than the left. In partial defect, almost always the distal end of the bone is affected, and of the bilateral cases, there may be total absence on both sides, or total on one side and partial on the other. Males are slightly more commonly affected than the females. Though, the family history is usually negative for congenital abnormalities and other diseases, there is a considerable chance of occurrence of congenital defect of the tibia or of other abnormalities, in near or remote relatives. We report a case of newborn having bilateral tibial hemimelia type VIIa.     

Bilateral lower limb amputee rehabilitation. A retrospective review.

We retrospectively reviewed 61 cases of bilateral lower limb amputations in patients admitted to a regional amputee rehabilitation program. Of the 61 cases, 41 were analyzed as to functional outcome on discharge, at 1 month, and at 3 months; 20 were not included owing to transfers to acute care or loss to follow-up. There were 41 men and 20 women, the average age was 61.5 years, and 47 patients (77%) were discharged to home. There were 25 bilateral below-knee, 14 above-knee and below-knee, 12 bilateral above-knee, 5 below-knee and partial-foot, 3 above-knee and partial-foot, and 2 bilateral partial-foot amputations. The average length of stay for all levels was 24.2 days. Most of the patients at the time of discharge achieved a level of limited household walking with the exception of those with bilateral above-knee amputations. A significant improvement in function was noted for all patients at 3-month follow-up, with most patients achieving household ambulation level, but 10 remained independent at wheelchair level for mobility.     

A neuro-synaptic model of the auditory masking and unmasking process

A model of bilateral information processing in the auditory system was presented on the basis of the interaction of postsynaptic potentials intra- and internuclei in order to analyze the mechanism of binaural unmasking as well as monaural masking. The system was composed of a bilateral pair of auditory nuclei, which were organized in two parallel afferent systems as well as an efferent system. In the model, bilateral inputs were processed in three stages, i.e., the detection of interaural differences by the first afferent system, the equalization of relative neural timing by the efferent system, and the cancellation of specific spectral components by the second afferent system. Assuming the masking process to be forward and backward inhibitions on the auditory memory of signal by the ones of noise, the unmasking process could be explained as a result of disinhibition by the cancellation of bilateral masker inputs.This study was supported in part by a Grant-in-Aid for Scientific Research (No. 59870082) from the Japanese Ministry of Education, Science, and Culture     

Preoperative diagnosis of bilateral renal oncocytoma by needle aspiration cytology. A case report

The cytohistologic and ultrastructural findings in a case of bilateral renal oncocytoma diagnosed by needle aspiration cytology are presented. This case appears to be the first reported example in which the preoperative needle aspiration cytologic diagnosis of bilateral renal oncocytoma was made due to the presence of characteristic tumor cells that were seen singly or in small clusters with rounded polygonal shapes and abundant eosinophilic granular cytoplasm. The preoperative diagnosis of bilateral oncocytoma permitted a timely decision as to the appropriate management in this case.     

Disrupted Functional Connectivity of the Anterior Cingulate Cortex in Cirrhotic Patients without Overt Hepatic Encephalopathy: A Resting State fMRI Study

Background

To evaluate the changes of functional connectivity of the anterior cingulate cortex (ACC) in patients with cirrhosis without overt hepatic encephalopathy (HE) using resting state functional MRI.

Methodology/Principal Findings

Participants included 67 cirrhotic patients (27 minimal hepatic encephalopathy (MHE) and 40 cirrhotic patients without MHE (non-HE)), and 40 age- and gender- matched healthy controls. rsfMRI were performed on 3 Telsa scanners. The pregenual ACC resting-state networks (RSNs) were characterized by using a standard seed-based whole-brain correlation method and compared between cirrhotic patients and healthy controls. Pearson correlation analysis was performed between the ACC RSNs and venous blood ammonia levels, neuropsychological tests (number connection test type A [NCT-A] and digit symbol test [DST]) scores in cirrhotic patients. All thresholds were set at P<0.05, with false discovery rate corrected. Compared with controls, non-HE and MHE patients showed significantly decreased functional connectivity in the bilateral ACC, bilateral middle frontal cortex (MFC), bilateral middle cingulate cortex (MCC), bilateral superior temporal gyri (STG)/middle temporal gyri (MTG), bilateral thalami, bilateral putamen and bilateral insula, and increased functional connectivity of bilateral precuneus and left temporo-occipital lobe and bilateral lingual gyri. Compared with non-HE patients, MHE showed the decreased functional connectivity of right MCC, bilateral STG/MTG and right putamen. This indicates decreased ACC functional connectivity predominated with the increasing severity of HE. NCT-A scores negatively correlated with ACC functional connectivity in the bilateral MCC, right temporal lobe, and DST scores positively correlated with functional connectivity in the bilateral ACC and the right putamen. No correlation was found between venous blood ammonia levels and functional connectivity in ACC in cirrhotic patients.

Conclusions/Significance

Disrupted functional connectivity in ACC was found in cirrhotic patients which further deteriorated with the increasing severity of HE and correlated cognitive dysfunction in cirrhotic patients.     

A case of lower mesodermal defects sequence

Here, we describe a stillborn fetus who had lower mesodermal defects sequence associated with craniorachischisis, anencephaly, bilateral pulmonary hypoplasia.     

Does Human Migration Affect International Trade? A Complex-Network Perspective

This paper explores the relationships between international human migration and merchandise trade using a complex-network approach. We firstly compare the topological structure of worldwide networks of human migration and bilateral trade over the period 1960–2000. Next, we ask whether pairs of countries that are more central in the migration network trade more. We show that: (i) the networks of international migration and trade are strongly correlated, and such correlation can be mostly explained by country economic/demographic size and geographical distance; (ii) centrality in the international-migration network boosts bilateral trade; (iii) intensive forms of country centrality are more trade enhancing than their extensive counterparts. Our findings suggest that bilateral trade between any two countries is not only affected by the presence of migrants from either countries, but also by their relative embeddedness in the complex web of corridors making up the network of international human migration.     

A pedigree with bilateral preaxial polydactyly from India

Preaxial polydactyly in 15 males and 5 females of 6 generations display a bilateral duplication of the big toe in a pedigree from Andhra Pradesh, India, with reduced penetrance and variable expressivity.     

A case of macrocephaly-cutis marmorata telangiectatica congenita and review of neuroradiologic features

Macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) is characterized by macrocephaly, cutis marmorata, capillary malformations, toe syndactily, joint laxity and pre-natal overgrowth. Cerebral abnormalities might also be seen. We reported cerebral magnetic resonance imaging (MRI) findings of a case with M-CMTC, who had giant atrial septal aneurysm and atrial septal defect. Cerebral alterations determined by MRI were bilateral prominent lateral ventricles, bilateral cortical dysplasia, cavum septi pellucidum cyst and calvarial hemangioma. At 17th day of his life he suddenly developed cardiorespiratory arrest and died.     

A fast bilateral filter with application to artefact reduction

Elastography in medical ultrasound is an imaging technique that displays information about tissue stiffness. However, elastography suffers from artefact noise that may come from two dominant sources: decorrelation error and amplitude modulation error. In order to reduce artefact and improve the quality of ultrasonic elastography, a fast bilateral filter is proposed in this study based on local histogram. The presented filter is derived from a conventional bilateral filter, and a local histogram is introduced to speed up the filter. The proposed algorithm can reduce artefact noise and, at the same time, maintain the tissue structure. Both simulation and phantom testing show that the proposed method can improve the quality of ultrasonic elastography in terms of tissue elastographic signal-to-noise ratio and elastographic contrast-to-noise ratio values.     

A Meta-Analysis of Unilateral versus Bilateral Pedicle Screw Fixation in Minimally Invasive Lumbar Interbody Fusion

Study Design

Meta-analysis.

Background

Bilateral pedicle screw fixation (PS) after lumbar interbody fusion is a widely accepted method of managing various spinal diseases. Recently, unilateral PS fixation has been reported as effective as bilateral PS fixation. This meta-analysis aimed to comparatively assess the efficacy and safety of unilateral PS fixation and bilateral PS fixation in the minimally invasive (MIS) lumbar interbody fusion for one-level degenerative lumbar spine disease.

Methods

MEDLINE/PubMed, EMBASE, BIOSIS Previews, and Cochrane Library were searched through March 30, 2014. Randomized controlled trials (RCTs) and controlled clinical trials (CCTs) on unilateral versus bilateral PS fixation in MIS lumbar interbody fusion that met the inclusion criteria and the methodological quality standard were retrieved and reviewed. Data on participant characteristics, interventions, follow-up period, and outcomes were extracted from the included studies and analyzed by Review Manager 5.2.

Results

Six studies (5 RCTs and 1 CCT) involving 298 patients were selected. There were no significant differences between unilateral and bilateral PS fixation procedures in fusion rate, complications, visual analogue score (VAS) for leg pain, VAS for back pain, Oswestry disability index (ODI). Both fixation procedures had similar length of hospital stay (MD = 0.38, 95% CI = −0.83 to 1.58; P = 0.54). In contrast, bilateral PS fixation was associated with significantly more intra-operative blood loss (P = 0.002) and significantly longer operation time (P = 0.02) as compared with unilateral PS fixation.

Conclusions

Unilateral PS fixation appears as effective and safe as bilateral PS fixation in MIS lumbar interbody fusion but requires less operative time and causes less blood loss, thus offering a simple alternative approach for one-level lumbar degenerative disease.     

Simultaneous bilateral posteromedial tibial epiphysis stress fractures in a healthy young man: A case report

We present a compelling case of simultaneous, bilateral tibial stress fractures occurring in a unique epiphyseal and posterior location, with unclear aetiology. An overweight, Caucasian male in his late 20s developed synchronous bilateral medial knee pain following an intense 10-day training regimen. His radiographies were normal, but MRI revealed almost identical bilateral stress fracture lines in the posteromedial tibial epiphyses. Bone mineral densitometry and a full metabolic and hormonal panel were performed to further investigate potential underlying metabolic bone disease. He was found to have normal bone mineral densitometry and low Vitamin D serum values. Symptomatology greatly improved with activity modification. There were no further complaints and complications at 12 months’ follow-up. Diagnosis can be challenging and the treating physician should be acquainted with the basic science of stress fractures and main discriminating clinical, biochemical and radiological characteristics from insufficiency fractures, to avoid pitfalls in treatment decision.     

Binaural Fusion and Listening Effort in Children Who Use Bilateral Cochlear Implants: A Psychoacoustic and Pupillometric Study

Bilateral cochlear implants aim to provide hearing to both ears for children who are deaf and promote binaural/spatial hearing. Benefits are limited by mismatched devices and unilaterally-driven development which could compromise the normal integration of left and right ear input. We thus asked whether children hear a fused image (ie. 1 vs 2 sounds) from their bilateral implants and if this “binaural fusion” reduces listening effort. Binaural fusion was assessed by asking 25 deaf children with cochlear implants and 24 peers with normal hearing whether they heard one or two sounds when listening to bilaterally presented acoustic click-trains/electric pulses (250 Hz trains of 36 ms presented at 1 Hz). Reaction times and pupillary changes were recorded simultaneously to measure listening effort. Bilaterally implanted children heard one image of bilateral input less frequently than normal hearing peers, particularly when intensity levels on each side were balanced. Binaural fusion declined as brainstem asymmetries increased and age at implantation decreased. Children implanted later had access to acoustic input prior to implantation due to progressive deterioration of hearing. Increases in both pupil diameter and reaction time occurred as perception of binaural fusion decreased. Results indicate that, without binaural level cues, children have difficulty fusing input from their bilateral implants to perceive one sound which costs them increased listening effort. Brainstem asymmetries exacerbate this issue. By contrast, later implantation, reflecting longer access to bilateral acoustic hearing, may have supported development of auditory pathways underlying binaural fusion. Improved integration of bilateral cochlear implant signals for children is required to improve their binaural hearing.     

A New Clinical Prediction Criterion Accurately Determines A Subset of Patients with Bilateral Primary Aldosteronism Before Adrenal Venous Sampling

Objective: Adrenal venous sampling (AVS) is the only available method to distinguish bilateral from unilateral primary aldosteronism (PA). AVS has several drawbacks, so it is reasonable to avoid this procedure when the results would not affect clinical management. Our objective was to identify a clinical criterion that can reliably predict nonlateralized AVS as a surrogate for bilateral PA that is not treated surgically.Methods: A retrospective diagnostic cross-sectional study conducted at Slovenian national endocrine referral center included 69 consecutive patients (mean age 56 ± 8 years, 21 females) with PA who underwent AVS. PA was confirmed with the saline infusion test (SIT). AVS was performed sequentially during continuous adrenocorticotrophic hormone (ACTH) infusion. The main outcome measures were variables associated with nonlateralized AVS to derive a clinical prediction rule.Results: Sixty-seven (97%) patients had a successful AVS and were included in the statistical analysis. A total of 39 (58%) patients had nonlateralized AVS. The combined criterion of serum potassium ≥3.5 mmol/L, post-SIT aldosterone <18 ng/dL, and either no or bilateral tumor found on computed tomography (CT) imaging had perfect estimated specificity (and thus 100% positive predictive value) for bilateral PA, saving an estimated 16% of the patients (11/67) from unnecessary AVS. The best overall classification accuracy (50/67 = 75%) was achieved using the post-SIT aldosterone level <18 ng/dL alone, which yielded 74% sensitivity and 75% specificity for predicting nonlateralized AVS.Conclusions: Our clinical prediction criterion appears to accurately determine a subset of patients with bilateral PA who could avoid unnecessary AVS and immediately commence with medical treatment.Abbreviations:ACTH = adrenocorticotrophic hormoneARR = aldosterone-to-renin ratioAVS = adrenal venous samplingBP = blood pressureCT = computed tomographyeGFR = estimated glomerular filtration rateMR = magnetic resonancePA = primary aldosteronismPRA = plasma renin activityROC = receiver operating characteristicSIT = saline infusion test     

A partially duplicated vena cava inferior: clinical, macroscopic and embryologic anatomy

Anomalies of the inferior vena cava (IVC) can become unexpected obstacles during anterior surgery exposures of the lumbar spine. Starting from a recently observed case of a partially bilateral IVC, the literature, both clinical and anatomical, was reviewed with particular respect to the requirements of spine surgery. Based on extensive radiological (especially phlebographic), surgical, and anatomical investigations, the frequency of left sided or bilateral IVC can be figured out at about 2%. The embryogenesis of the variation is contested. Our observations comprising 45 human embryos confirm the conception according to which the infrarenal segment of IVC originates from the sacrocardinal (and not from the supracardinal) vein.     

Hemorrhagic Shock As the Initial Manifestation of Pheochromocytoma: Report of A Sequential Management Strategy

ObjectiveTo describe a patient presenting with hemorrhagic shock attributable to bleeding pheochromocytomas and the sequential management strategy used for treating this patient.MethodsWe summarize the clinical presentation,diagnostic work-up, surgical management, and pathologicfeatures of our patient and review the pertinent literature.ResultsA 38-year-old man with multiple endocrineneoplasia type 2A and bilateral pheochromocytomas presented initially with nearly fatal retroperitoneal and intraperitoneal hemorrhage rather than the characteristic hypertensive paroxysms. After lifesaving operative interventionand a 5-month period of rehabilitation and convalescence,the patient underwent bilateral retroperitoneoscopic adrenalectomy as definitive treatment. Thus, the abdomen thathad been operated on multiple times because of hemorrhage was left undisturbed, and the patient had a successfulrecovery.ConclusionNear-fatalintraperitonealhemorrhageis a very rare initial manifestation of pheochromocytoma.Our current patient with bilateral pheochromocytomaspresented in this dramatic manner. This case shows that a sequential management strategy of damage-control surgical treatment followed by future resection of the tumorsafter appropriate a-adrenergic blockade is a safe and effective therapeutic option. (Endocr Pract. 2012;18:e81-e84)     

A novel insertion-induced frameshift mutation of the SLC26A4 gene in a Korean family with Pendred syndrome

Pendred syndrome (PS) is an autosomal recessive disorder characterized by congenital bilateral sensorineural hearing loss, goiter, and incomplete iodide organification. Patients with PS also have structural anomalies of the inner ear such as enlarged vestibular aqueducts (EVA) and Mondini's malformation. The goiter, which is a major clinical manifestation of PS, usually develops around adolescence. PS is caused by biallelic mutations of the SLC26A4 gene, while nonsyndromic bilateral EVA is associated with zero or one SLC26A4 mutant allele. We report here a Korean family including a young female with PS who had goiter and progressive, fluctuating sensorineural hearing loss that could be partially recovered by oral steroid treatment. Genetic investigation revealed compound heterozygous mutations for p.R677AfsX11, a novel frameshift mutation, and p.H723R in the SLC26A4 gene. Our findings provide detailed information regarding the distribution of mutant alleles for PS and may serve as a foundation for studies to comprehend the genetic portion of syndromic hearing loss.