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1

The Syndrome of Perisylvian Polymicrogyria with Congenital Arthrogryposis  

PubMed Central

Background Bilateral perisylvian polymicrogyria (BPP) is a well-recognized malformation of cortical development commonly associated with epilepsy, cognitive impairment, and oromotor apraxia. Reports have suggested the association of BPP with arthrogryposis multiplex congenita. We sought to investigate the clinical, electrophysiological, and neuroradiological features of this combined syndrome to determine if there are unique features that distinguish BPP with arthrogryposis from BPP alone. Methods Cases of BPP with congenital arthrogryposis were identified from a large research database of individuals with polymicrogyria. Clinical features (including oromotor function, seizures, and joint contractures), MR brain imaging, and results of neuromuscular testing were reviewed. Results Ten cases of BPP with congenital arthrogryposis were identified. Most cases had some degree of oromotor apraxia. Only a few had seizures, but a majority of cases were still young children. Electrophysiological studies provided evidence for lower motor neuron or peripheral nervous system involvement. On brain imaging, bilateral polymicrogyria (PMG) centered along the Sylvian fissures was seen, with variable extension frontally or parietally; no other cortical malformations were present. We did not identify obvious neuroimaging features that distinguish this syndrome from that of BPP without arthrogryposis. Conclusions The clinical and neuroimaging features of the syndrome of BPP with congenital arthrogryposis appear similar to those seen in cases of isolated BPP without joint contractures, but electrophysiological studies often demonstrate coexistent lower motor neuron or peripheral nervous system pathology. These findings suggest that BPP with arthrogryposis may have a genetic etiology with effects at two levels of the neuraxis. PMID:19751967

Poduri, Annapurna; Chitsazzadeh, Vida; D’Arrigo, Stefano; Fedrizzi, Ermellina; Pantaleoni, Chiara; Riva, Daria; Busse, Claudia; Küster, Helmut; Duplessis, Adre; Gaitanis, John; Sahin, Mustafa; Garganta, Cheryl; Topcu, Meral; Dies, Kira A.; Barry, Brenda J.; Partlow, Jennifer; Barkovich, A. James; Walsh, Christopher A.; Chang, Bernard S.

2009-01-01

2

A Locus for Bilateral Perisylvian Polymicrogyria Maps to Xq28  

PubMed Central

Polymicrogyria (PMG) is one of a large group of human cortical malformations that collectively account for a significant percentage of patients with epilepsy, congenital neurological deficits, and intellectual disability. PMG is characterized by an excess of small gyri and abnormal cortical lamination. The most common distribution is bilateral, symmetrical, and maximal, in the region surrounding the sylvian fissures, and is known as “bilateral perisylvian polymicrogyria” (BPP). Most cases are sporadic, although several families have been observed with multiple affected members, usually following an X-linked inheritance pattern. Here we report the first genetic locus for BPP mapped by linkage analysis in five families. Linkage places the critical region for BPP at Xq28 (LOD score 3.08 in Xq28, distal to DXS8103 by multipoint analysis). We suggest that this region contains a gene that is necessary for correct neuronal organization and that the identification of this gene will both enhance our understanding of normal cortical development and accelerate the identification of other genes responsible for PMG. PMID:11822025

Villard, Laurent; Nguyen, Karine; Cardoso, Carlos; Martin, Christa Lese; Weiss, Ann M.; Sifry-Platt, Mara; Grix, Arthur W.; Graham, Jr., John M.; Winter, Robin M.; Leventer, Richard J.; Dobyns, William B.

2002-01-01

3

Worster-Drought syndrome, a mild tetraplegic perisylvian cerebral palsy. Review of 47 cases.  

PubMed

A retrospective case-note analysis was undertaken of 47 children with a congenital upper motor neurone bulbar palsy (excluding pure speech dyspraxia) to clarify the phenotype of Worster-Drought syndrome (WDS) and to record its associated features and complications. The results revealed that the study children had significant bulbar problems (with 80% still needing a modified diet and a similar number using augmentative communication methods at last review). There were also high rates of predictable bulbar complications (86% had dribbling, 60% had glue ear, gastro-oesophageal reflux in 40%, history of poor nutrition in 40% and aspiration in 40%). Most of the children had additional complex impairments (91% had mild pyramidal tetraplegia, 81% learning difficulties, 60% congenital defects, 41% neuropsychiatric problems and 28% epilepsy). Over half of the children had significant medical problems in the first year, but mean age at diagnosis was 6 years. There were no obvious causes in pregnancy or birth. Six children had a family history of WDS and 32% (12/37) had abnormal neuroimaging including five with bilateral perisylvian polymicrogyria. In our experience, WDS is not uncommon, is relatively easily diagnosed and is crucial not to miss as the management of these children's multiple impairments is complex and requires a careful team approach. WDS falls clearly within the cerebral palsies as a syndrome that includes motor impairment arising from static damage to the brain in early life. The common presence of cognitive, behavioural and seizure impairments strongly supports the cerebral cortical (presumably perisylvian) localization. Its core elements are a suprabulbar paresis, a mild spastic tetraplegia and a significant excess of cognitive and behavioural impairments and epilepsy. The complete overlap in phenotype between WDS and the bilateral perisylvian syndrome leads us to propose that they are the same condition. WDS is startlingly absent from epidemiological studies of the cerebral palsies and rarely diagnosed, presumably because of lack of clinical awareness of the condition and lack of major gross motor impairments. PMID:11004132

Clark, M; Carr, L; Reilly, S; Neville, B G

2000-10-01

4

A Japanese patient with Kabuki syndrome and unilateral perisylvian cortical dysplasia.  

PubMed

Kabuki syndrome is a rare multiple anomaly syndrome characterized by a peculiar face, skeletal and dermatoglyphic anomalies, postnatal growth retardation and mental retardation. We report a case of Kabuki syndrome with unilateral perisylvian cortical dysplasia. This two-year old boy was referred to our hospital at 3-months of age for his growth retardation and muscle hypotonia. Because of his peculiar face, brachydactyly V and fingertip pad, we diagnosed him as having Kabuki syndrome. His MRI revealed cortical dysplasia along the left sylvian fissure. However, neither epileptic seizures nor epileptiform discharges on electroencephalogram were observed. Cortical dysplasia is a relatively rare brain malformation among the central nervous system anomalies accompanying with this syndrome. We have to take into consideration the likely onset of epilepsy in this patient because it is one of the most frequent neurological consequences of cortical dysplasia. PMID:20444562

Yoshioka, Seiichiro; Takano, Tomoyuki; Matsuwake, Kumiko; Sokoda, Tatsuyuki; Takeuchi, Yoshihiro

2011-02-01

5

Am. J. Hum. Genet. 70:1003–1008, 2002 Report A Locus for Bilateral Perisylvian Polymicrogyria Maps to Xq28  

E-print Network

Polymicrogyria (PMG) is one of a large group of human cortical malformations that collectively account for a significant percentage of patients with epilepsy, congenital neurological deficits, and intellectual disability. PMG is characterized by an excess of small gyri and abnormal cortical lamination. The most common distribution is bilateral, symmetrical, and maximal, in the region surrounding the sylvian fissures, and is known as “bilateral perisylvian polymicrogyria ” (BPP). Most cases are sporadic, although several families have been observed with multiple affected members, usually following an X-linked inheritance pattern. Here we report the first genetic locus for BPP mapped by linkage analysis in five families. Linkage places the critical region for BPP at Xq28 (LOD score 3.08 in Xq28, distal to DXS8103 by multipoint analysis). We suggest that this region contains a gene that is necessary for correct neuronal organization and that the identification of this gene will both enhance our understanding of normal cortical development and accelerate the identification of other genes responsible for PMG. Polymicrogyria (PMG) is a malformation of cortical development in which the brain surface is irregular and the normal gyral pattern is replaced by multiple small, partly fused gyri separated by shallow sulci. Microscopic examination shows a simplified four-layered or unlayered

Laurent Villard; Karine Nguyen; Carlos Cardoso; Christa Lese Martin; Ann M. Weiss; Mara Sifry-platt; Arthur W. Grix; John M. Graham; Robin M. Winter; Richard J. Leventer; William B. Dobyns; Human Genetics; Neurology

6

Bilateral cheiro-oral syndrome  

Microsoft Academic Search

Eight cases of pure bilateral cheiro-oral syndrome (COS) are reported. The location and etiology of lesion were well defined in six cases, including pontine infarct in three, and brainstem hemorrhage, unilateral thalamic infarct and bilateral subdural hematoma in one patient each respectively. Neuroimaging and neurophysiological studies were normal in another two patients. Taken together with the previous five reported cases

W. H Chen; M. Y Lan; Y. Y Chang; J. S Liu; M. S Chou; S. S Chen

1997-01-01

7

Bilateral symmetrical frontoparietal polymicrogyria.  

PubMed

A patient with bilateral symmetrical frontoparietal polymicrogyria is reported. Severe developmental delay, mental retardation, spastic tetraplegia, and seizures were the main clinical features. Magnetic resonance imaging revealed bilateral thick cortex with irregular gyri and festoon-like grey-white matter junction in the frontoparietal areas. Bilateral frontoparietal polymicrogyria might represent either a severe form of a spectrum of malformations involving the frontoparietal area or a further variety of the congenital bilateral symmetrical polymicrogyria syndromes in addition to bilateral frontal polymicrogyria, bilateral perisylvian syndrome, and bilateral parasagittal parieto-occipital polymicrogyria. PMID:12374591

Sztriha, László; Nork, Michael

2002-01-01

8

Fetal alcohol syndrome and bilateral tibial exostoses  

Microsoft Academic Search

Maternal exposure to alcohol during pregnancy has been associated with fetal malformations referred to as the fetal alcohol syndrome. This paper describes, for the first time, the presence of bilateral tibial exostoses in a child with FAS.

E. M. Azouz; G. Kavianian; V. M. Der Kaloustian

1993-01-01

9

Bilateral Compartment Syndrome Complicating Prolonged Lithotomy Position  

Microsoft Academic Search

Summary A case of bilateral compartment syndrome after prolonged Lloyd-Davies lithotomy position is described. The diagnosis was made early, despite effective extradural bupivacaine- fentanyl analgesia. The aetiology, diagnosis, pathology and treatment of compartment syn- drome are described. Complications of the syndrome may be life-threatening and perma- nently disabling. The anaesthetist should be aware of the potential complications of the operative

J. TUCKEY

1997-01-01

10

Gorlin syndrome and bilateral ovarian fibroma  

PubMed Central

INTRODUCTION Gorlin syndrome (GS), also known as nevoid basal cell carcinoma syndrome (NBCCS), is a rare hereditary, autosomal dominant disease that affects various systems. Its prevalence is estimated at 1/57,000 to 1/256,000 of the population. It is characterized by basal cell carcinomas, multiple odontogenic keratocysts, skeletal abnormalities and ovarian fibroma, among other disorders. PRESENTATION OF CASE To report the case of a young patient with Gorlin syndrome and bilateral ovarian fibroma. DISCUSSION A 20-year old patient with Gorlin syndrome presented with facial asymmetry, broad nasal root, dental abnormalities, micrognathism, convergent strabismus, multiple pigmented lesions on the trunk and face, pectus excavatum, kyphoscoliosis and a palpable mass in the abdomen occupying the entire pelvic region. CONCLUSION Gorlin–Goltz syndrome is a hereditary pathology that includes numerous clinical manifestations. Diagnosis is clinical and genetic confirmation is unnecessary. PMID:22771908

Pirschner, Fernanda; Bastos, Pollyana Marçal; Contarato, George Luiz; Bimbato, Anna Carolina Bon Lima; Filho, Antônio Chambô

2012-01-01

11

Bilateral ovarian fibroma associated with Gorlin syndrome  

PubMed Central

Gorlin syndrome (GS), also known as nevoid basal cell carcinoma syndrome (NBCCS), is a rare inherited multisystem disorder. This paper presents a 22-years-old Iranian woman with this syndrome whose past history was multiple keratocysts of maxillary bone. She was referred to gynecology clinic with the chief complaint of irregular menses and vaginal spotting. On examination, frontal bossing and hypertelorism were detected. Physical examination of genitalia disclosed bilateral adnexal masses. Pelvic ultrasound showed two solid, echogenous and calcified masses measuring 100*50*10 & 60*50*45 mm in the left and right ovaries, respectively. The patient underwent right oophorectomy and ovarian mass resection with preservation of intact ovarian tissue on the left side. On frozen and permanent histological sections, bilateral and calcified ovarian fibromas were diagnosed. Surprisingly, during the last follow-up one year after the surgery, we found that our patient was expecting a baby. It can be concluded that in the presence of bilateral and calcified ovarian fibromas, the possibility of GS should be considered. Accurate diagnosis is only possible with close attention to the familial and past medical history and physical examination. In these patients, careful follow up for detecting malignancies and other complications is highly recommended. PMID:21772861

Aram, Shahnaz; Moghaddam, Noushin Afshar

2009-01-01

12

Anton's Syndrome due to Bilateral Ischemic Occipital Lobe Strokes  

PubMed Central

We present a case of a patient with Anton's syndrome (i.e., visual anosognosia with confabulations), who developed bilateral occipital lobe infarct. Bilateral occipital brain damage results in blindness, and patients start to confabulate to fill in the missing sensory input. In addition, the patient occasionally becomes agitated and talks to himself, which indicates that, besides Anton's syndrome, he might have had Charles Bonnet syndrome, characterized by both visual loss and hallucinations. Anton syndrome, is not so frequent condition and is most commonly caused by ischemic stroke. In this particular case, the patient had successive bilateral occipital ischemia as a result of massive stenoses of head and neck arteries. PMID:25530893

Zuki?, Sanela; Sinanovi?, Osman; Hodži?, Renata; Mujagi?, Svjetlana; Smajlovi?, Edina

2014-01-01

13

Progressive bilateral anterior sacral meningoceles in Marfan syndrome  

Microsoft Academic Search

Anterior sacral meningoceles (ASM) in Marfan syndrome are rare. They may cause constipation, urinary frequency, dysmenorrhea, and low back pain or numbness. This report describes bilateral ASM at the level of S1, S2 and S3 in a woman with Marfan syndrome who was admitted to the gynaecology department for evaluation of left lower abdominal pain. The magnetic resonance appearance of

R. J. Scheck; T. Schramm; K.-P. Gloning; T. Vogl; E. Ostermayer

1995-01-01

14

Bilateral symptomatic supernumerary muscle belly syndrome.  

PubMed

A 32-year-old woman with a longstanding history of bilateral forearm pain had been unable to open her fingers and use her left arm (treated as reflex sympathetic dystrophy) since the age of 14. On physical examination there was fullness and tenderness of the distal volar forearms bilaterally; the quadriga test (when the patient was asked to make a tight fist quickly, with one finger fully extended passively) elicited burning pain. Operation confirmed that she had anomalous reversed forearm muscles bilaterally, and these were successfully resected. PMID:14649693

Abe, Yukio; Watson, H Kirk; Babigian, Alan

2003-01-01

15

Recurrent Bilateral Occipital Infarct with Cortical Blindness and Anton Syndrome  

PubMed Central

Bilateral cortical blindness and Anton syndrome, are most commonly caused by ischaemic stroke. In this condition, patients have loss of vision but deny their blindness despite objective evidence of visual loss. We report a case of a patient with multiple cardiovascular risk factors who developed recurrent bilateral occipital lobe infarct with Anton syndrome. A suspicion of this condition should be raised when the patient has denial of blindness in the presence of clinical and radiological evidence of occipital lobe injury. Management of this condition should focus on the underlying cause, in which our patient requires secondary stroke prevention and rehabilitation. PMID:24744933

Kwong Yew, Kiu; Abdul halim, Sanihah; Tharakan, John

2014-01-01

16

Recurrent bilateral occipital infarct with cortical blindness and anton syndrome.  

PubMed

Bilateral cortical blindness and Anton syndrome, are most commonly caused by ischaemic stroke. In this condition, patients have loss of vision but deny their blindness despite objective evidence of visual loss. We report a case of a patient with multiple cardiovascular risk factors who developed recurrent bilateral occipital lobe infarct with Anton syndrome. A suspicion of this condition should be raised when the patient has denial of blindness in the presence of clinical and radiological evidence of occipital lobe injury. Management of this condition should focus on the underlying cause, in which our patient requires secondary stroke prevention and rehabilitation. PMID:24744933

Kwong Yew, Kiu; Abdul Halim, Sanihah; Liza-Sharmini, Ahmad Tajudin; Tharakan, John

2014-01-01

17

Bilateral Swyer-James (Macleod’s) syndrome  

Microsoft Academic Search

Swyer James syndrome (SJS) is a rare disorder. It is generally discovered on a chest radiograph as increased translucency\\u000a involving one hemithorax with diminished vascular markings. We present a 5-year-old girl admitted for the treatment of recurrent\\u000a bronchiolitis. She was diagnosed as having Swyer James syndrome from the results of CT scan and ventilation perfusion scintigraphy,\\u000a which revealed unsuspected bilateral

Çitak Funda Erkasar; Çitak Elvan Çaglar; Demirel Koray; Karabacak Nese Ilgin

2002-01-01

18

Gorlin syndrome with bilateral polydactyly: a rare case report.  

PubMed

Gorlin's syndrome is a rare disorder transmitted as an autosomal dominant trait. It is characterized by multiple disorders involving multiple systems. We present a case of 11-year-old male child presenting with multiple odontogenic keratocyst to the dental clinic. Retrograde diagnosis of Gorlin-Goltz syndrome was made after clinical and radiological investigation. How to cite this article: Acharya S, Panda S, Dhull KS, Sahoo SR, Ray P. Gorlin Syndrome with Bilateral Polydactyly: A Rare Case Report. Int J Clin Pediatr Dent 2013;6(3):208-212. PMID:25206225

Acharya, Sonu; Panda, Swagatika; Singh Dhull, Kanika; Sahoo, Sujit Ranjan; Ray, Prayas

2013-09-01

19

Gorlin Syndrome with Bilateral Polydactyly: A Rare Case Report  

PubMed Central

ABSTRACT Gorlin's syndrome is a rare disorder transmitted as an autosomal dominant trait. It is characterized by multiple disorders involving multiple systems. We present a case of 11-year-old male child presenting with multiple odontogenic keratocyst to the dental clinic. Retrograde diagnosis of Gorlin-Goltz syndrome was made after clinical and radiological investigation. How to cite this article: Acharya S, Panda S, Dhull KS, Sahoo SR, Ray P. Gorlin Syndrome with Bilateral Polydactyly: A Rare Case Report. Int J Clin Pediatr Dent 2013;6(3):208-212. PMID:25206225

Acharya, Sonu; Panda, Swagatika; Sahoo, Sujit Ranjan; Ray, Prayas

2013-01-01

20

Bilateral carpal tunnel syndrome with anomalous palmaris profundus tendons.  

PubMed

This report presents the case of a 44-year-old man who presented with elective bilateral carpal tunnel decompression. At the operation, he was found to have bilateral palmaris profundus tendons within the carpal tunnel, impinging on the median nerve. In releasing both carpal tunnels, the patient's symptoms were alleviated and there was regain of full function. There have been very few documented cases of these anomalous tendons implicated in carpal tunnel syndrome and this case highlights how such anatomical variations are important in the surgical approach to carpal tunnel decompression. PMID:23088639

Razik, Aisha; Avisar, Erez; Sorene, Elliot

2012-12-01

21

Bilateral acute lupus pneumonitis in a case of rhupus syndrome.  

PubMed

Rhupus syndrome, the overlap of rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE), is an extremely uncommon condition. Organ damages found due to SLE are usually mild in rhupus. Lupus pneumonitis in rhupus syndrome has not been reported worldwide. We are reporting a 23-year-old female with bilateral symmetric erosive arthritis, oral ulcer, alopecia, polyserositis, anemia, leucopenia, positive RA-factor, anti nuclear antibody (ANA) and anti ds-DNA. She presented with acute onset dyspnea, high fever, chest pain, tachycardia, tachypnea, hypoxia and respiratory alkalosis. High resolution computed tomography (HRCT)-thorax showed bilateral, basal consolidation with air bronchogram. Repeated sputum and single broncho alveolar lavage (BAL) fluid examination revealed no organism or Hemosiderin-laden macrophage. The diagnosis of rhupus was confirmed by combined manifestations of RA and SLE, and the diagnosis of acute lupus pneumonitis was established by clinico-radiological picture and by excluding other possibilities. PMID:22919171

Sarkar, Supriya; Saha, Kaushik

2012-07-01

22

Bilateral total hip arthroplasty in siblings with Stickler Syndrome.  

PubMed

Stickler Syndrome is an infrequent autosomal dominant connective tissue disorder. The most prevalent mutation affects type II collagen gene and results in abnormalities in cartilage, vitreous and nucleus pulposus. Orthopaedic manifestations include joint hyper- mobility and pain with early development of secondary osteoarthritis. The condition has a predilection for the femoral head and patients usually present in their third to fourth decade with secondary hip arthritis. We report on two siblings with Stickler Syndrome who presented with hip osteoarthritis in their third decade of life and underwent staged bilateral total hip arthroplasties (THA). The patients experienced pain relief and improved quality of life after surgery. PMID:19197843

Banerjee, D; Anderson, J A; Taveras, N A; González Della Valle, A

2007-01-01

23

Severe bilateral carpal tunnel syndrome in juvenile chronic arthritis.  

PubMed

Carpal tunnel syndrome, although rare, is known to occur in children mainly because of genetic or metabolic disorders. The clinical findings are variable and include symptoms of burning pain, tingling, numbness, and weakness or atrophy in the hands of the patients. It is usually diagnosed by demonstration of prolonged distal latency times during the electrodiagnostic studies. Reported here is a patient with juvenile chronic arthritis and a diagnosis of severe bilateral carpal tunnel syndrome, the first patient reported in the literature, to the best of the authors' knowledge. PMID:14643400

Unal, Oya; Ozçakar, Levent; Cetin, Alp; Kaymak, Bayram

2003-10-01

24

Giant median nerve in bilateral carpal tunnel syndrome  

PubMed Central

We introduce a middle age healthy man with sequential bilateral carpal tunnel syndrome. At the surgery, we encountered a wide median nerve in both wrists. Although enlargement of median nerve in carpal tunnel has been well documented, 25 mm width of the nerve is a rare scene, underscoring that leaving the nerve under the unyielding pressure would lead to a fibrous atrophic median nerve. PMID:23960323

Chabok, Hosein Ahmadzadeh

2013-01-01

25

Bilateral Wünderlich Syndrome Caused by Spontaneous Rupture of Renal Angiomyolipomas  

PubMed Central

Wünderlich syndrome (WS) is a urological emergency characterized by retroperitoneal hemorrhage. In most cases, bleeding occurs from a renal angiomyolipoma (AML) and may be the first manifestation of the disease. We report a female patient with bilateral WS due to the metachronous rupture of renal AMLs. Because the patient was stable and the tumor was not malignant, treatment was conservative. Follow-up revealed the full recovery of kidney function and the resolution of the hematoma.

Sotošek, Stanislav; Marki?, Dean; Španjol, Josip; Krpina, Kristian; Kneževi?, Siniša; Mari?i?, Anton

2015-01-01

26

Congenital Bilateral Perislyvian Syndrome: Case Report and Review of Literature  

PubMed Central

Congenital bilateral Perislyvian syndrome (CBPS) is a rare structural malformation of the brain in which the underlying anomaly is polymicrogyria. Polymicrogyria is a malformation of cortical development that is characterized by abnormal arrangement and excessive folding of cerebral cortical cell layers, often with fusion of the gyral surfaces, which can be focal or regional or involve the whole cortical mantle. Clinical manifestations depend upon the anatomical region of the brain involved. We report a case of 7-year-old male child with magnetic resonance imaging findings of CBPS. PMID:24404535

Gowda, Anand K.; Mane, Ranoji Shivaji; Kumar, Ashok

2013-01-01

27

Non-syndrome patient with bilateral supernumerary teeth: Case report and 9-year follow-up  

PubMed Central

The presence of supernumerary teeth, also known as hyperdontia, is the condition of having teeth in addition to the regular number of teeth. The occurrence of multiple supernumerary teeth is often found in association with syndromes such as Gardner syndrome, Anderson-Fabry disease, Ellis-van Creveld syndrome, Ehlers-Danlos syndrome, incontinentia pigmenti, and Tricho-rhino-phalangeal syndrome. Only a few examples of nonsyndromic multiple supernumerary teeth have been reported in literature. In this report, we present the unusual case and 9-year follow up of a non-syndrome female patient with bilateral supernumerary teeth that occurred with an interval of several years. PMID:23408107

Akgun, Ozlem Marti; Sabuncuoglu, Fidan; Altug, Ayberk; Altun, Ceyhan

2013-01-01

28

Simultaneous bilateral laparoscopic adrenalectomy for pheochromocytoma in multiple endocrine neoplasia (MEN) syndrome: Case report with review literature  

PubMed Central

INTRODUCTION Laparoscopic adrenalectomy has gained favour as a preferred surgical approach in the multiple endocrine neoplasia (MEN) type 2 patients. Currently, there is limited literature on bilateral simultaneous laparoscopic adrenalectomy in MEN 2 syndrome. We reported two cases of bilateral pheochromocytoma associated with MEN 2 syndrome cured by simultaneous bilateral laparoscopic adrenalectomy. PRESENTATION OF CASE First patient presented with big lips since childhood and episodic abdominal pain. On investigations, he was diagnosed with features of MEN 2B syndrome. Second patient was hypertensive and presented with abdominal pain. On evaluation she had features of MEN 2A syndrome. DISCUSSION Minimally invasive approach was preferred in both cases. Bilateral simultaneous adrenalectomies were uneventfully done with acceptable operative time and blood loss with rapid perioperative recovery. These cases highlighted the feasibility of laparoscopic simultaneous bilateral adrenalectomy for pheochromocytomas in MEN 2 syndrome. CONCLUSION Laparoscopic simultaneous bilateral adrenalectomy is a safe feasible and preferable technique for pheochromocytomas associated with MEN 2 syndrome. PMID:24981168

Yadav, Kaushal; Bakshi, Ganesh; Prakash, Gagan; Tamhankar, Anup; Verma, Kamlesh

2014-01-01

29

Bilateral popliteal artery aneurysms in a young man with Loeys-Dietz syndrome.  

PubMed

Loeys-Dietz syndrome is a recently described genetic connective tissue disorder. The syndrome is associated with multiple nonvascular phenotypic anomalies but also aggressive arteriopathy, which has so far principally been shown to cause aortic root dilatation with subsequent dissection and rupture. We report the first ever case of a young man diagnosed with Loeys-Dietz syndrome with asymptomatic large bilateral popliteal artery aneurysms. We have successfully resected these aneurysms and revascularized with synthetic graft. PMID:22406093

Stephenson, Matthew Alexander; Vlachakis, Ioannis; Valenti, Domenico

2012-08-01

30

Bilateral compartment syndrome of the anterior thigh following functional fitness exercises: a case report.  

PubMed

We present a case of delayed, acute bilateral exertional compartment syndrome of the anterior thigh induced by callisthenic exercise. Symptoms consisted of pain out of proportion to examination findings, inability to ambulate, and severe pain with knee flexion. Treatment consisted of bilateral thigh fasciotomies and supportive therapy for concomitant rhabdomyolysis. Full strength, range of motion, and return to all military duties were achieved by 4 months postinjury. PMID:22934383

McDonald, Lucas S; Mitchell, Ronald J; Deaton, Travis G

2012-08-01

31

Bilateral anterior tarsal tunnel syndrome variant secondary to extensor hallucis brevis muscle hypertrophy in a ballet dancer: a case report.  

PubMed

We present a case of bilateral anterior tarsal tunnel syndrome secondary EHB hypertrophy in a dancer, with successful treatment with bilateral EHB muscle excisions for decompression. The bilateral presentation of this case with the treatment of EHB muscle excision is the first of its type reported in the literature. PMID:25457672

Tennant, Joshua N; Rungprai, Chamnanni; Phisitkul, Phinit

2014-12-01

32

Reversible cerebral vasoconstriction syndrome and bilateral vertebral artery dissection presenting in a patient after cesarean section  

PubMed Central

Reversible cerebral vasoconstriction syndrome (RCVS) is characterized by sudden-onset thunderclap headache and focal neurologic deficits. Once thought to be a rare syndrome, more advanced non-invasive imaging has led to an increase in RCVS diagnosis. Unilateral vertebral artery dissection has been described in fewer than 40% of cases of RCVS. Bilateral vertebral artery dissection has rarely been reported. We describe the case of a patient with RCVS and bilateral vertebral artery dissection presenting with an intramedullary infarct treated successfully with medical management and careful close follow-up. This rare coexistence should be recognized as the treatment differs. PMID:23354867

Mitchell, Lex A; Santarelli, Justin G; Singh, Inder Paul; Do, Huy M

2013-01-01

33

Exercise-induced bilateral anterior tibial compartment syndrome without pain  

Microsoft Academic Search

We report the case of a 41 year old man who complained of a severe bilateral deficit of the anterior tibial compartment two hours after prolonged exercise. On admission there was no spontaneous or evoked pain, no objective sensory deficit but total loss of dorsiflexion of feet and toes. Electrophysiological investigation showed no voluntary or evoked electrical activity in tibial

G. Ciacci; A. Federico; F. Giannini; M. Mondelli; F. Reale; A. Rossi

1986-01-01

34

Single Bilateral Dexamethasone Implant in Addition to Panretinal Photocoagulation and Oral Azathioprine Treatment in IRVAN Syndrome  

PubMed Central

The idiopathic retinal vasculitis, aneurysms and neuroretinitis (IRVAN) syndrome is a disease characterized by multiple retinal macroaneurysms, neuroretinitis and peripheral capillary nonperfusion. Visual loss may result from either ischemia-related complications or macular involvement. Treatment is not always rewarding. We report a case with stage 2 IRVAN syndrome who was successfully treated with a single bilateral intravitreal dexamethasone implant in addition to panretinal photocoagulation and systemic azathioprine treatment. PMID:25802506

Saatci, Ali Osman; Ayhan, Ziya; Take?, Ömer; Yaman, Aylin; Bajin, F. Meltem Söylev

2015-01-01

35

Genetics of adrenal tumors associated with Cushing's syndrome: a new classification for bilateral adrenocortical hyperplasias  

Microsoft Academic Search

Adrenocortical causes of Cushing's syndrome include the following: common cortisol-producing adenomas, which are usually isolated (without associated tumors) and sporadic (without a family history); rare, but often clinically devastating, adrenocortical carcinomas; and a spectrum of adrenocorticotropin-independent, and almost always bilateral, hyperplasias, which are not rare, and are the most recently recognized cause. The majority of benign lesions of the adrenal

Sosipatros A Boikos; Constantine A Stratakis

2007-01-01

36

Metachronous Bilateral Posterior Tibial Artery Aneurysms in Ehlers-Danlos Syndrome Type IV  

SciTech Connect

Ehlers-Danlos syndrome type IV is a life-threatening genetic connective tissue disorder. We report a 24-year-old woman with EDS-IV who presented with metachronous bilateral aneurysms/pseudoaneurysms of the posterior tibial arteries 15 months apart. Both were treated successfully with transarterial coil embolization from a distal posterior tibial approach.

Hagspiel, Klaus D., E-mail: kdh2n@virginia.edu [University of Virginia, Department of Radiology (United States); Bonatti, Hugo [Vanderbilt University, Department of Surgery (United States); Sabri, Saher [University of Virginia, Department of Radiology (United States); Arslan, Bulent [Moffitt Cancer Center (United States); Harthun, Nancy L. [Johns Hopkins University, Division of Vascular Surgery, Department of Surgery (United States)

2011-04-15

37

Cerebellar Ataxia with Bilateral Vestibulopathy: Description of a Syndrome and Its Characteristic Clinical Sign  

ERIC Educational Resources Information Center

We report four patients with the syndrome of cerebellar ataxia with bilateral vestibulopathy (CABV) and, using search coil oculography, we validate its characteristic clinical sign, namely impairment of the visually enhanced vestibulo-ocular reflex (VVOR) or doll's head reflex. In our four patients, CABV began in the sixth decade of life; they are…

Migliaccio, Americo A.; Halmagyi, G. Michael; McGarvie, Leigh A.; Cremer, Phillip D.

2004-01-01

38

A case of congenital jejunal atresia associated with bilateral athelia and choanal atresia: new syndrome spectrum.  

PubMed

We present a case of bilateral choanal atresia, cleft of the posterior palate. Cardiac, respiratory and central nervous system examinations were normal. An examination of the chest revealed aplasia of the bilateral absence of the bilateral nipple-areola complex. Skin, soft tissue and bilateral pectoral muscles of the chest wall were normal. The patient did not have scalp nodules or abnormal ears. Four hours after birth, an X-ray examination showed the distended intestinal loops, suggesting small bowel obstruction. Exploration was performed and congenital jejunal atresia was surgically identified. A primary anastomosis was performed. At 3 years of age, the patient had mild mental and growth retardation. Chromosome analysis was normal (46,XX). Magnetic resonance imaging showed no abnormal finding in the spinal cord; however, mild atrophy of the left cerebrum was pointed out. An abdominal echo examination showed no abnormal findings in the kidney. These associations may represent a previously undescribed syndrome spectrum. PMID:16317306

Uchida, Keiichi; Konishi, Naomi; Inoue, Mikihiro; Otake, Kohei; Kusunoki, Masato

2006-01-01

39

Bilateral multifocal posterior pole lesions in Reiter syndrome  

PubMed Central

Reactive arthritis is associated with conjunctivitis or iritis. Rarely reactive arthritis is accompanied by permanent visual loss from macular infarction or foveal scarring. We present the case of a rheumatologist who had a sudden onset of skin lesions, arthritis of several joints and bilateral visual loss. Most of these manifestations resolved after a course of oral corticosteroids. However he was left with decreased vision in the left eye and multiple lesions in the fovea over a follow-up of 2?years. PMID:23576664

Mansour, Ahmad M; Jaroudi, Mahmoud O; Medawar, Walid A; Tabbarah, Zuhayr A

2013-01-01

40

A Rare Case of Cushing's Syndrome Due to Bilateral Adrenocortical Adenomas.  

PubMed

We report a rare case of Cushing's syndrome caused by bilateral cortisol-secreting adenomas in a 63-year-old man. Our preoperative diagnosis was based on endocrinological results and imaging findings. Laparoscopic adrenalectomy has become a standard technique for adrenal tumors; however, bilateral adrenalectomy results in postoperative adrenal insufficiency, necessitating lifelong steroid replacement. To preserve adrenal function, the left adrenal gland was completely resected, whereas the right adrenal gland was partially resected laparoscopically. Hydrocortisone supplementation was initiated at a dose of 30 mg/day and was slowly tapered. However, symptoms of adrenal insufficiency developed, and adrenal steroid secretion did not respond to exogenous adrenocorticotropic hormone. Bilateral cortisol-secreting tumors rarely cause Cushing's syndrome. The present study comprised few patients, and the utilized surgical procedures (i.e., total/partial adrenalectomy or bilateral total adrenalectomy) were not uniform. Few cases of bilateral adrenal-preserving surgery have been reported. However, our patient developed adrenal insufficiency after the oral cortisone supplementation was tapered. This report demonstrates that partial adrenalectomy does not necessarily preserve normal adrenocortical function. Therefore, careful postoperative observation is necessary for patients undergoing a partial adrenalectomy. PMID:25504201

Yasuda, Atsushi; Seki, Toshiro; Ito, Kazuko; Takagi, Atsushi; Watanabe, Daisuke; Nakamura, Naoya; Hanai, Kazuya; Terachi, Toshiro; Maekawa, Takashi; Sasano, Hironobu; Fukagawa, Masafumi

2014-01-01

41

A case of Muir-Torre syndrome with multiple cancers of bilateral eyelids and breast.  

PubMed

We report a case of Muir-Torre syndrome (MTS) with a very rare combination of cancers, involving bilateral eyelid cancers and breast cancer. A 71-year-old female with a history of breast cancer from 18 years prior presented with bilateral eyelid tumors. One of her siblings had lung cancer, and another had pancreatic cancer. She underwent excisional biopsy of the eyelid tumors and histopathology revealed sebaceous carcinoma of the right eyelid and basal cell carcinoma of the left. She was diagnosed with MTS: a skin cancer associated with visceral malignancy. Immunohistochemical tests for mutS homolog 2 showed a lack of expression in both eyelid carcinomas. PMID:23730114

Kamisasanuki, Taro; Uchino, Eisuke; Fukushima, Jun-Ichi; Yoshikawa, Hiroshi; Ishibashi, Tatsuro; Sakamoto, Taiji

2013-06-01

42

A Case of Muir-Torre Syndrome with Multiple Cancers of Bilateral Eyelids and Breast  

PubMed Central

We report a case of Muir-Torre syndrome (MTS) with a very rare combination of cancers, involving bilateral eyelid cancers and breast cancer. A 71-year-old female with a history of breast cancer from 18 years prior presented with bilateral eyelid tumors. One of her siblings had lung cancer, and another had pancreatic cancer. She underwent excisional biopsy of the eyelid tumors and histopathology revealed sebaceous carcinoma of the right eyelid and basal cell carcinoma of the left. She was diagnosed with MTS: a skin cancer associated with visceral malignancy. Immunohistochemical tests for mutS homolog 2 showed a lack of expression in both eyelid carcinomas. PMID:23730114

Kamisasanuki, Taro; Uchino, Eisuke; Fukushima, Jun-ichi; Yoshikawa, Hiroshi; Ishibashi, Tatsuro

2013-01-01

43

Klüver-bucy syndrome with isolated bilateral hippocampal atrophy following status epilepticus.  

PubMed

Klüver-Bucy syndrome may result from affection of various location of brain. We report a case of Klüver-Bucy syndrome associated with isolated bilateral hippocampal atrophy without any abnormal lesion in other areas following status epilepticus. A 31-year-old man who had no significant medical history presented with status epilepticus after encephalitis of unknown etiology. He had been recovered from status epilepticus three weeks later, but afterwards he developed Klüver-Bucy syndrome: hyperphagia, hypersexuality, hypermetamorphosis, anterograde amnesia and dysosmia. Initial brain MRI showed T2 hyperintensity and swelling of isolated bilateral hippocampus, especially CA1 region without any abnormal lesion in other areas. One month later, follow-up brain MRI showed isolated bilateral hippocampal atrophy. This is a meaningful case report because this case differs from other reports of Klüver-Bucy syndrome in humans in that the anatomic abnormalities revealed by MRI were very selective. We report this case because this case is very educative for above reason. Moreover, this report would give us additional information of the relationship between human behavior and limbic system. PMID:24649454

Park, Hong-Kyun; Kim, Kyeong-Joon; Moon, Hye-Jin; Kim, Seon-Jeong; Yun, Chang-Ho; Park, Seong-Ho

2012-03-01

44

Cleft palate and bilateral congenital cataract: a familial observation: a new syndrome?  

PubMed

We report a family with a rare association of congenital bilateral cataract and cleft palate that has not to our knowledge been previously reported. The lineage has unveiled abnormalities over four generations affecting 21 people with congenital bilateral cataract, with or without cleft palate. The transmission seems autosomal dominant. Four brothers and sisters presented with this defect, and a fifth sister is healthy. The mother has facial dimorphism, congenital bilateral cataract, submucous cleft palate, clinodactyly, and scoliosis. The propositus' karyotype was normal. Array comparative genomic hybridisation (CGH) analysis showed an interstitial amplification in Xp21.1, found in the mother, in all the affected siblings but one, and in the healthy girl. Thisl association is not rare and has been reported in over 50 syndromes but rarely in familial observations. Based on the genetic-clinical discordance we wonder about the deleterious impact of the Xp21.1 amplification that might be a copy number polymorphism. PMID:22153181

François-Fiquet, Caroline; Wavreille, Olivier; Poli Merol, Marie-Laurence; Doco-Fenzy, Martine

2012-10-01

45

46,XY female sex reversal syndrome with bilateral gonadoblastoma and dysgerminoma  

PubMed Central

Sex reversal syndrome is a rare congenital condition of complete or disordered gonadal development leading to discordance between the genetic, gonadal and phenotypic sexes, including 46,XX and 46,XY. The gonadoblastoma on the Y-chromosome (GBY) region is associated with an increased risk of developing type II germ cell tumors/cancer. The present study reports a unique case of a phenotypically normal female (age 17 years), presenting with primary amenorrhea and later diagnosed with 46,XY female sex reversal syndrome. Following bilateral gonadectomy, bilateral gonadoblastoma and dysgerminoma were diagnosed. Thus, estrogen replacement therapy was administered periodically to promote the development of secondary sexual characteristics and menstruation, and to prevent osteoporosis. A four year follow-up showed no tumor recurrence and a regular menstrual cycle in this patient. PMID:25187804

DU, XUE; ZHANG, XUHONG; LI, YONGMEI; HAN, YUKUN

2014-01-01

46

Bilateral lung transplantation in a patient with Vascular Ehlers-Danlos syndrome.  

PubMed

We describe the case of a 29-year-old woman with end-stage chronic obstructive pulmonary disease secondary to vascular Ehlers-Danlos syndrome. Because of critical deterioration, respiratory arrest, and complete lung failure, she required urgent implantation of a venovenous extracorporeal membrane oxygenator as a bridge to lung transplantation. After 6 days of extracorporeal life support, a successful bilateral sequential lung transplantation was performed. This is the first case of lung transplantation in a patient with a diagnosis of chronic obstructive pulmonary disease secondary to Ehlers-Danlos syndrome. PMID:24792277

García Sáez, Diana; Mohite, Prashant N; Zych, Bartlomiej; Sabashnikov, Anton; Moza, Ajay; Carby, Martin; Simon, André R

2014-05-01

47

Bilateral De Quervain Syndrome after Aromatase Inhibitor Administration: A Case Report and Review of the Literature  

PubMed Central

Aromatase inhibitors are widely used as one of the main treatment options of both early and advanced hormone receptor-positive breast cancer in postmenopausal women. Unfortunately, musculoskeletal symptoms are often presented in patients treated with aromatase inhibitors (AIs), and, although the pathogenesis is unknown, postulated mechanisms have been described. Herein, to our knowledge, we present the first report of bilateral De Quervain syndrome related with AIs therapy with a review of the relevant literature. PMID:22567020

Papadimitriou, Konstantinos; Kountourakis, Panteleimon; Morakis, Emmanouil; Vassiliou, Vassilios; Barbounis, Vasileios; Ardavanis, Alexandros

2012-01-01

48

Chronic bilateral common carotid artery occlusion: a model for ocular ischemic syndrome in the rat  

Microsoft Academic Search

Background  Ocular ischemic syndrome is a devastating eye disease caused by severe carotid artery stenosis. The reduction of blood flow\\u000a produced by bilateral common carotid artery occlusion (BCCAO) of rats for 7 days induces events related to gliosis with no\\u000a evident histological damage. However, retinal degeneration and cellular death occur after 90 days of BCCAO. Our purpose has\\u000a been to investigate

Daniel Lavinsky; Nice Sarmento Arterni; Matilde Achaval; Carlos Alexandre Netto

2006-01-01

49

Adrenocorticotropic Hormone-Independent Cushing Syndrome with Bilateral Cortisol-Secreting Adenomas  

PubMed Central

A 48-year-old woman was incidentally found to have bilateral adrenal masses, 2.8 cm in diameter on the right, and 2.3 cm and 1.7 cm in diameter on the left, by abdominal computed tomography. The patient had a medical history of hypertension, which was not being controlled by carvedilol, at a dose of 25 mg daily. She presented with signs and symptoms that suggested Cushing Syndrome. We diagnosed adrenocorticotropic hormone (ACTH)-independent Cushing Syndrome based on the results of basal and dynamic hormone tests. Adrenal vein sampling (AVS) was performed to localize a functioning adrenal cortical mass. AVS results were consistent with hypersecretion of cortisol from both adrenal glands, with a cortisol lateralization ratio of 1.1. Upon bilateral laparoscopic adrenalectomy, bilateral ACTH-independent adrenal adenomas were found. The patient's signs and symptoms of Cushing Syndrome improved after surgery just as the blood pressure was normalized. After surgery, the patient was started on glucocorticoid and mineralocorticoid replacement therapy. PMID:24396667

Ku, Eu Jeong; Hong, A Ram; Kim, Ye An; Bae, Jae Hyun; Chang, Mee Soo

2013-01-01

50

A case of Cushing's syndrome due to bilateral cortisol-secreting adenomas with unilateral DHEAS oversecretion.  

PubMed

A 39-year-old Japanese woman presented with typical clinical symptoms of Cushing's syndrome, including amenorrhea and hirsutism, for 2 years. The results of her initial endocrine evaluation were consistent with ACTH-independent Cushing's syndrome due to bilateral adrenal masses (diameters of 3.1 cm and 2.4 cm on the left and right, respectively). Serum dehydroepiandrosterone levels were 6,901 ng/mL (normal range 230-2,660 ng/mL). Bilateral laparoscopic adrenalectomies were performed (left adrenalectomy first and right adrenalectomy 3 months later). Following the left adrenalectomy, the results of the endocrine evaluations were still consistent with a diagnosis of ACTH-independent Cushing's syndrome. Serum dehydroepiandrosterone sulphate levels, however, were below the normal range (143 ng/mL). Unexpectedly, the patient's menstruation resumed 2.5 months after the left adrenalectomy. Pathological examination of the resected glands showed bilateral adrenocortical adenomas, one on the left with a diameter of 3 cm, and two on the right with diameters of 0.7 cm and 1.3 cm. Immunohistochemical analysis revealed side chain cleavage, 17?-hydroxylase, 3?-hydroxysteroid dehydrogenase, and 21-hydroxylase immunoreactivity in each adenoma. Dehydroepiandrosterone-sulfotransferase immunoreactivity was pronounced in the left adenoma, less pronounced in one of the right adenoma and weak in the other right adenoma. These results were consistent with clinical endocrine findings. Ours is the first case of a patient with bilateral cortisol-secreting adenomas with unilateral oversecretion of dehydroepiandrosterone sulphate. Resumption of menstruation after the correction of the dehydroepiandrosterone-sulphate excess, despite persistent cortisol excess, indicates the importance of adrenal androgens for the regulation of the menstrual cycle. PMID:25736067

Monno, Satoshi; Tachikawa, Takamitsu; Maekawa, Takashi; Sasano, Hironobu

2015-03-30

51

Hearing rehabilitation with single-stage bilateral vibroplasty in a child with Franceschetti syndrome.  

PubMed

Hearing is of utmost importance for normal speech and social development. Even children who have mild or unilateral permanent hearing loss may experience difficulties with understanding speech, as well as problems with educational and psycho-social development. The increasing advantages of middle-ear implant technologies are opening new perspectives for restoring hearing. Active middle-ear implants can be used in children and adolescents with hearing loss. In addition to the well-documented results for improving speech intelligibility and quality of hearing in sensorineural hearing loss active middle-ear implants are now successfully used in patients with conductive and mixed hearing loss. In this article we present a case of successful, single-stage vibroplasty, on the right side with the fixation of the FMT on the stapes and PORP CLiP vibroplasty on the left side in a 6-year-old girl with bilateral mixed hearing loss and multiple dyslalia associated with Franceschetti syndrome (mandibulofacial dysostosis). CT revealed bilateral middle-ear malformations as well as an atretic right and stenotic left external auditory canal. Due to craniofacial dysmorphia airway and (post)operative, management is significantly more difficult in patients with a Franceschetti syndrome which in this case favoured a single-stage bilateral procedure. No intra- or postoperative surgical complications were reported. The middle-ear implants were activated 4 weeks after surgery. In the audiological examination 6 months after surgery, the child showed 100% speech intelligibility with activated implants on each side. PMID:24504491

Sargsyan, Sona; Rahne, Torsten; Kösling, Sabrina; Eichler, Gerburg; Plontke, Stefan K

2014-05-01

52

Bilateral and Simultaneous Central Retinal Vein Occlusion in a Patient with Obstructive Sleep Apnea Syndrome  

PubMed Central

Purpose To describe a case of bilateral and simultaneous central retinal vein occlusion (RVO) in a young patient diagnosed with obstructive sleep apnea syndrome (OSAS). Case Report A 38-year-old man with morbid obesity and daytime sleepiness presented with a history of bilateral vision loss. His visual acuity (VA) was hand movements, and fundus examination (FE) revealed bilateral central RVO. General medical examination revealed untreated hypertension and type II respiratory failure. Laboratory tests for thrombophilia showed increased hematocrit (59%) and high levels of fibrinogen and C-reactive protein. Other causes of congenital and acquired hypercoagulability were ruled out. Pathologic polysomnography led to the diagnosis of OSAS. The patient was treated with antihypertensive drugs and continuous positive air pressure. In addition, he received intravitreal ranibizumab. At 10 months after presentation, his VA was no light perception in the right eye and hand movements in the left eye. FE revealed bilateral retinal and optic nerve atrophy, and the occurrence of a nonarteritic anterior ischemic neuropathy in the right eye was considered. PMID:24987364

Govetto, Andrea; Domínguez, Ramón; Rojas, Laura; Pereiro, María; Lorente, Ramón

2014-01-01

53

A delayed presentation of bilateral leg compartment syndrome following non-stop dancing.  

PubMed

We present the case of a young man with a 48?h delayed presentation of bilateral lower limb acute compartment syndrome (ACS) affecting the anterior compartments following an extended period of dancing at a music festival. On making the diagnosis of ACS, the patient was immediately taken to theatre for fasciotomies and compartmental decompression. Repeat look fasciotomies revealed further necrosis to the muscles of the anterior compartments bilaterally and, effectively, all the muscle bellies within the anterior compartments were excised. The patient has been left with a significant functional deficit and disability. This case highlights the importance of timely diagnosis of ACS as delay in presentation can impact significantly on subsequent functional outcome and quality of life. PMID:25786817

Jefferies, James Gordon; Carter, Tom; White, Tim Oliver

2015-01-01

54

Bilateral incipient germ cell tumours of the testis in the incomplete testicular feminization syndrome.  

PubMed

The presence of bilateral incipient germ cell tumours in the testes of two cases of the incomplete testicular feminization syndrome (TFS) is reported and found to resemble that occurring in the testes of infertile men. Both the nature and nomenclature of the lesion is discussed, as is its relevance in the early diagnosis and improved therapy of testicular tumours, which occur frequently in TFS. Suggestions are made for a more complete postpubertal surveillance in these patients, including assay of tumour markers and bilateral biopsies in cases of complete TFS. In this condition the removal of the testes is usually delayed until the twenties when total feminization is achieved, thus increasing the chances of tumour development. PMID:7286914

Nogales, F F; Toro, M; Ortega, I; Fulwood, H R

1981-09-01

55

Bilateral polymicrogyria: always think in chromosome 22q11.2 deletion syndromes.  

PubMed

Polymicrogyria (PMG) is a malformation of cortical development due to an abnormal organisation. It is a heterogeneous disorder associated with genetic and acquired events, namely 22q11.2 deletion syndrome also known as DiGeorge syndrome (DGS) /velocardiofacial syndrome (VCFS) among others. This association has been known since 1996 and more than 30 cases have been described. Neurological features include motor and cognitive impairment, epilepsy, microcephaly and spasticity. The authors present an 8-month old infant with minor dysmorphic features, microcephaly, global psychomotor retardation and epilepsy. Brain MRI revealed diffuse bilateral PMG. The 22q11.2 deletion was confirmed by fluorescent in situ hybridisation (FISH). The child had no other manifestation of DGS/VCFS. paediatricians, neuropaediatricians, development specialists and geneticists should be aware that in the presence of PMG, especially when bilateral, 22q11.2 deletion should be investigated, even in the absence of the typical features of DGS/VCFS. On the other hand, in children with 22q11.2 deletion, brain malformations should be ruled out. PMID:22674744

Castro, Ana; Rodrigues, Nádia; Pereira, Marco; Gonçalves, Cláudia

2011-01-01

56

A non-syndrome case with bilateral supernumerary canines: report of a rare case.  

PubMed

Supernumerary teeth are described as the teeth formed in excess of the normal dental formula. Prevalence of supernumerary teeth varies between 0.1% and 3.8% in general Caucasian population. They have been reported in both the primary and the permanent dentition. Supernumerary teeth may occur in any region of the dental arch. However, a supernumerary tooth in the canine region is a rare condition and to our knowledge, a non-syndrome case with bilateral supplemental maxillary canines did not exist in the literature. It was the aim of this report to evaluate this rare case in view of both oral radiology and orthodontics. PMID:16120884

Türkkahraman, H; Yilmaz, H H; Cetin, E

2005-09-01

57

Monolateral purple urine bag syndrome in a patient with bilateral nephrostomy tubes.  

PubMed

Purple urine bag syndrome (PUBS) is a constellation of findings resulting in purple discoloration of the urine and/or urine drainage bag(s) occurring in patients with long-term urinary indwelling catheters. Other causative factors may include constipation, female gender, the presence of bacteria containing sulphatase and phosphatase enzymes, and alkaline urine. While the contributing factors for PUBS are linked with high morbidity, PUBS itself is a benign condition. A case study of monolateral PUBS in a patient with bilateral nephrostomy tubes (NTs) is presented. PMID:25112022

Sheehan, Michael

2014-01-01

58

Deafness due to bilateral endolymphatic sac tumours in a case of von Hippel-Lindau syndrome.  

PubMed Central

A case of bilateral endolymphatic sac tumours is reported. In a patient with von Hippel-Lindau syndrome, tumour growth in the right cerebellopontine angle caused deafness. The tumour was removed and classified as a metastasis from a thyroid carcinoma. However, on thyroidectomy no primary neoplasm could be found. Eight years later a similar tumour was operated on in the left petrosal bone. Histological appearance, immunocytochemical findings, and the clinical context gave evidence that the tumours had to be reclassified as endolymphatic sac tumours--extremely rare entities. The report supports the hypothesis, suggested by the few earlier case reports, that endolymphatic sac tumours could be one of the inherent tumour manifestations in von Hippel-Lindau syndrome. Images PMID:8795608

Kempermann, G; Neumann, H P; Scheremet, R; Volk, B; Mann, W; Gilsbach, J; Laszig, R

1996-01-01

59

Bilateral Upper Extremity DVT in a 43-Year-Old Man: Is It Thoracic Outlet Syndrome?!  

PubMed Central

Recurrent deep venous thrombosis, involving bilateral upper extremities, is an extremely rare phenomenon. We are presenting a 43-year-old man who was diagnosed with left upper extremity deep vein thrombosis (UEDVT) and was treated with anticoagulation and surgical decompression in 2004. 9 years later, he presented with right arm swelling and was diagnosed with right UEDVT using US venous Doppler. Venogram showed compression of the subclavian vein by the first rib, diagnosing thoracic outlet syndrome (TOS). He was treated with anticoagulation and local venolysis and later by surgical decompression of the subclavian vein. Bilateral UEDVT, as mentioned above, is an extremely rare condition that is uncommonly caused by TOS. To our knowledge, we are reporting the first case of bilateral UEDVT due to TOS. Diagnosis usually starts with US venous Doppler to detect the thrombosis, followed by the gold standard venogram to locate the area of obstruction and lyse the thrombus if needed. The ultimate treatment for TOS remains surgical decompression of the vascular bundle at the thoracic outlet. PMID:25140182

Sanghavi, Devang; Chalise, Shyam

2014-01-01

60

Bilateral Burkitt Lymphoma of the Ovaries: A Report of a Case in a Child with Williams Syndrome  

PubMed Central

A 10-year-old female with Williams Syndrome (WS) presented with a two-month history of fatigue, weight loss, and bilateral ovarian masses. Histologic, immunophenotypic, and cytogenetic studies confirmed the diagnosis of Burkitt lymphoma (BL). While there is no established association between the two disorders, this is the third case in the literature of Burkitt lymphoma in a patient with Williams Syndrome. PMID:21687537

Onimoe, Grace Ifeyinwa; Kahwash, Samir; Termuhlen, Amanda; Gross, Thomas G.; Varga, Elizabeth; Rose, Melissa J.

2011-01-01

61

Protein S Deficiency, Activated Protein C Resistance and Sticky Platelet Syndrome in a Young Woman with Bilateral Strokes  

Microsoft Academic Search

Background: Coagulation disorders are common in young adults (age less than 55 years) with ischemic stroke. Objectives: To describe a young woman with bilateral strokes of undetermined etiology who had three significant hemostatic disturbances. These were protein S deficiency, Factor V Leiden heterozygosity, and sticky platelet syndrome. The Factor V Leiden mutation was also present in one of her children.

Seemant Chaturvedi; Jeffery S. Dzieczkowski

1999-01-01

62

Unilateral or bilateral vagotomy induces ovulation in both ovaries of rats with polycystic ovarian syndrome  

PubMed Central

Background Injecting estradiol valerate (EV) to pre-pubertal or adult female rat results in effects similar to those observed in women with polycystic ovarian syndrome (PCOS). One of the mechanisms involved in PCOS development is the hyperactivity of the sympathetic nervous system. In EV-induced PCOS rats, the unilateral sectioning of the superior ovarian nerve (SON) restores ovulation of the innervated ovary. This suggests that, in addition to the sympathetic innervation, other neural mechanisms are involved in the development/maintenance of PCOS. The aims of present study were analyze if the vagus nerve is one of the neural pathways participating in PCOS development. Methods Ten-day old rats were injected with EV dissolved in corn oil. At 24-days of age sham-surgery, unilateral, or bilateral sectioning of the vagus nerve (vagotomy) was performed on these rats. The animals were sacrificed at 90–92 days of age, when they presented vaginal estrous preceded by a pro-estrus smear. Results In EV-induced PCOS rats, unilateral or bilateral vagotomy restored ovulation in both ovaries. Follicle-stimulating hormone (FSH) levels in PCOS rats with unilateral or bilateral vagotomy were lower than in control rats. Conclusions This result suggests that in EV-induced PCOS rats the vagus nerve is a neural pathway participating in maintaining PCOS. The vagus nerve innervates the ovaries directly and indirectly through its synapsis in the celiac-superior-mesenteric ganglion, where the somas of neurons originating in the SON are located. Then, it is possible that vagotomy effects in EV-induced PCOS rats may be explained as a lack of communication between the central nervous system and the ovaries. PMID:23866168

2013-01-01

63

Bilateral hypertrophic olivary nucleus degeneration on magnetic resonance imaging in children with Leigh and Leigh-like syndrome  

PubMed Central

Objective: Bilateral hypertrophic olivary degeneration on brain MRI has been reported in a few metabolic, genetic and neurodegenerative disorders, including mitochondrial disorders. In this report, we sought to analyse whether bilateral symmetrical inferior olivary nucleus hypertrophy is specifically associated with mitochondrial disorders in children. Methods: This retrospective study included 125 children (mean age, 7.6?±?5 years; male:female, 2.6:1) diagnosed with various metabolic and genetic disorders during 2005–2012. The routine MRI sequences (T1 weighted, T2 weighted and fluid-attenuated inversion–recovery sequences) were analysed for the presence of bilateral symmetrical olivary hypertrophy and central tegmental tract or dentate nuclei signal changes. The other imaging findings and the final diagnoses were noted. Results: The cohort included patients with Leigh and Leigh-like syndrome (n?=?25), other mitochondrial diseases (n?=?25), Wilson disease (n?=?40), Type 1 glutaric aciduria (n?=?14), maple syrup urine disease (n?=?13), giant axonal neuropathy (n?=?5) and L-2 hydroxy glutaric aciduria (n?=?3). Bilateral inferior olivary nucleus hypertrophy was noted in 10 patients, all of whom belonged to the Leigh and Leigh-like syndrome group. Conclusion: Bilateral hypertrophic olivary degeneration on MRI is relatively often, but not routinely, seen in children with Leigh and Leigh-like syndrome. Early detection of this finding by radiologists and physicians may facilitate targeted metabolic testing in these children. Advances in knowledge: This article highlights the occurrence of bilateral hypertrophic olivary nucleus degeneration on MRI in children with Leigh and Leigh-like syndrome, compared with other metabolic disorders. PMID:24470583

Taly, A B; Sonam, K; Govindaraju, C; Arvinda, H R; Gayathri, N; Bharath, M M Srinivas; Ranjith, D; Nagappa, M; Sinha, S; Khan, N A; Thangaraj, K

2014-01-01

64

Bilateral dysgerminoma in a patient with a previous diagnosis of Swyer syndrome.  

PubMed

A 16-year-old girl was referred to our center by her general physician because of primary amenorrhea. Her family history revealed an older sister with Swyer syndrome and gonadectomy at another institution. After thorough evaluation she received the same diagnosis, but unlike her sister, she refused gonadectomy. Four years later she presented with abdominal discomfort and a complex pelvic mass. She underwent exploratory laparotomy and histological examination revealed bilateral dysgerminoma without capsular invasion. The tumor was classified as stage IB. After surgery she underwent adjuvant chemotherapy with three cycles of BEP (bleomycin + etoposide + cisplatin). The present case emphasizes the importance of familial screening with a karyotype study in pure gonadal dysgenesis to prevent gonadal malignancy. PMID:22176344

Moreira, Ana Isabel Duarte Mendonça; Silva, José Carlos; Ferreira, Maria Soledade; Lanhoso, António

2012-02-01

65

Written production in a case of locked-in syndrome with bilateral corticopontic degeneration.  

PubMed

Patients in locked-in syndrome show normal or near normal mental abilities that contrast with the limited motor capacity that hinders voluntary communication. However, eye movements and blinking are usually preserved and can be used to establish a communication system. We report an exceptional case of locked-in syndrome. The aetiology was basilar thrombosis consecutive to a cervical manipulation. In addition, brain MRI performed 23 years later showed a ventral pontine stroke with bilateral corticopontic degeneration. In this study the patient was able to produce written output using a chin-controlled Morse system decoded by a computer. A detailed linguistic analysis of text written over 20 years by the patient was carried out. The data demonstrate that improvements in language performance can be observed even in patients with brain lesions in areas associated with high-level cognitive processes. The data show a decrease of typing, grammatical and lexical errors over time, use of less frequent words, and an increase of more complex linguistic structures. This paper adds to previous findings confirming the value of daily practice and rehabilitation to enhance quality of life in this group of patients. PMID:25347464

Gayraud, F; Martinie, B; Bentot, E; Lepilliez, A; Tell, L; Cotton, F; Rode, G

2014-10-27

66

Unbalanced der(5)t(5;20) translocation associated with Megalencephaly, perisylvian Polymicrogyria, Polydactyly and Hydrocephalus  

PubMed Central

The combination of megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus (MPPH) is a rare syndrome of unknown cause. We observed two first cousins affected by an MPPH-like phenotype with a submicroscopic chromosome 5q35 deletion as a result of an unbalanced der(5)t(5;20)(q35.2;q13.3) translocation, including the NSD1 Sotos syndrome locus. We describe the phenotype and the deletion breakpoints of the two MPPH-like patients and compare these with five unrelated MPPH and Sotos patients harboring a 5q35 microdeletion. Mapping of the breakpoints in the two cousins was performed by MLPA, FISH, high density SNP-arrays and Q-PCR for the 5q35 deletion and 20q13 duplication. The 5q35 deletion area of the two cousins almost completely overlaps with earlier described patients with an atypical Sotos microdeletion, except for the DRD1 gene. The five unrelated MPPH patients neither showed submicroscopic chromosomal aberrations nor DRD1 mutations. We reviewed the brain MRI of 10 Sotos patients and did not detect polymicrogyria in any of them. In our two cousins, the MPPH-like phenotype is probably caused by the contribution of genes on both chromosome 5q35 and 20q13. Some patients with MPPH may harbor a submicroscopic chromosomal aberration and therefore high-resolution array analysis should be part of the diagnostic workup. PMID:20503325

Verkerk, Annemieke J.M.H.; Schot, Rachel; van Waterschoot, Laura; Douben, Hannie; Poddighe, Pino J.; Lequin, Maarten H.; de Vries, Linda S.; Terhal, Paulien; Hahnemann, Johanne M.D.; de Coo, Irenaeus F.M.; de Wit, Marie-Claire Y.; Wafelman, Leontien S.; Garavelli, Livia; Dobyns, William B.; Van der Spek, Peter J.; de Klein, Annelies; Mancini, Grazia M.S.

2010-01-01

67

Bilateral alien hand syndrome in cerebrovascular disease: CT, MR, CT angiography, and 99mTc-HMPAO-SPECT findings.  

PubMed

We report a 65-year-old man with a right cerebral infarction that occurred 15 years ago and a residual left hemiparesis that began with progressive contralateral hemiparesis. During the hospitalization, the patient developed a bilateral alien hand syndrome. Urgent CT, MR, CT angiography, and brain perfusion SPECT were performed that revealed an old right cerebral infarction and a new ischemic lesion in left parietal lobe and adjacent brain territories. PMID:25546190

Serrano-Vicente, Justo; Duran-Barquero, Carmen; Garcia-Bernardo, Lucia; Dominguez-Grande, Maria Luz; Infante-Torre, Jose Rafael; Rayo-Madrid, Juan Ignacio

2015-03-01

68

[ACTH-independent Cushing's syndrome due to bilateral macronodular adrenal hyperplasia with empty sella turcica and anterior panhypopituitarism].  

PubMed

A case is presented of Cushing's syndrome due to macronodular bilateral adrenal hyperplasia which is ACTH-independent as was demonstrated by the undetectable basal and after stimulation with metoprolol ACTH plasma levels. High cortisol levels is associated in this patient with empty sella turcica and anterior panhypopituitarism with confirm the exclusive adrenal origin of the hormone hypersecretion and the lack of treatment success with hypophysis ablation in this process. PMID:1315980

Menéndez Torre, E L; López Carballo, M T; Rodríguez Erdozain, R; Urbieta Echezarreta, M; Lafita Tejedor, J; Forga Llenas, L

1992-03-01

69

Bilateral large-cell calcifying Sertoli cell tumor of the testes with Peutz-Jeghers syndrome: a case report.  

PubMed

A 13-year-old boy with Peutz-Jeghers syndrome (PJs), gynecomastia, and bilateral multifocal testicular tumors is described. Histology of the testicular tissue disclosed large-cell calcifying Sertoli cell tumors. Females with PJs are known to be at increased risk of developing gonadal tumors. This case and a review of other reported cases suggest that males with PJs are also at risk for developing gonadal tumors. PMID:7899185

Dreyer, L; Jacyk, W K; du Plessis, D J

1994-12-01

70

Impact and Timing of Bilateral Adrenalectomy for Refractory ACTH-Dependent Cushing’s Syndrome  

PubMed Central

Introduction In patients with refractory ACTH-dependent Cushing’s syndrome (CS), we evaluated steroidogenesis inhibition (SI) and bilateral adrenalectomy (BA) to predict which patients might benefit most from each treatment modality. Methods Clinical data from patients treated 1970-2012 were retrospectively reviewed by treatment group (SI or SI+BA). Validated severity scales were used to calculate metabolic (M) score (hypokalemia, hyperglycemia, hypertension, proximal muscle weakness) and adverse events (AE) score (thrombosis, fracture, infection). Results 65 patients (16 pituitary, 49 ectopic) were treated with SI+BA (n=21,32%) or SI alone (n=44,68%). Presenting M scores and source of ACTH excess (ectopic vs. pituitary) were similar. Both groups improved metabolically after treatment. 39% of AEs in the SI+BA group occurred within 12 months of presentation. 24(55%) SI patients died (median survival 24.0 months); steroid excess contributed to 71%. Six SI+BA patients died (29%), including all 3 patients with recurrent CS after BA. Minor perioperative complications occurred in 7 patients (33%). Conclusions Post-treatment M and AE scores improved for all patients and 70% of AEs occurred in SI+BA patients within 12 months of presentation, emphasizing the importance of early surgical intervention. These data argue for the safety and efficacy of early BA in selected patients with uncontrollable CS. PMID:24383115

Morris, Lilah F.; Harris, Rachel S.; Milton, Denái R.; Waguespack, Steven G.; Habra, Mouhammed A.; Jimenez, Camilo; Vassilopoulou-Sellin, Rena; Lee, Jeffrey E.; Perrier, Nancy D.; Grubbs, Elizabeth G.

2014-01-01

71

Changes in leg pain after bilateral fasciotomy to treat chronic compartment syndrome: a case series study  

PubMed Central

Background Intracompartmental pressure (ICP) as the diagnostic gold standard in the management of chronic compartment syndrome (CCS) is debated. We present a diagnostic protocol in which the decision to operate can be based upon clinical findings alone. The aim of this study was to examine whether patients who underwent surgery for CCS based on clinical findings experienced significant long-term pain relief. Methods A standardized clinical examination, including skin sensitivity, was performed in patients with bilateral leg pain and/or cramps. Before and after a symptom-provoking step test, ICPs were measured. The primary outcome was self-reported leg pain measured on a visual analogue scale. Secondary outcomes were satisfaction with the treatment result and health-related quality of life (HRQL) measured with the SF-8 questionnaire. Postoperative data were collected after 2 years. Results Follow-up was completed for 37 of 40 patients. ICP was increased in 80.5% of the compartments examined before surgery, but did not correlate with the degree of leg pain. The remaining compartments were diagnosed as CCS based on clinical findings, despite ICPs below the threshold. Leg cramps occurred in 32 of 37 (86.5%) patients during physical activity and at night. Leg pain improved from a score of 8.0?±?1.5 to 2.3?±?2.1, P?

2013-01-01

72

Antiphospholipid Antibody Syndrome Associated with Graves’ Disease Presenting As Inferior Vena Cava Thrombosis with Bilateral Lower Limb DVT  

PubMed Central

We report a case of a 60-year-old lady who presented with bilateral lower limb swelling and a thyroid swelling with clinical features consistent with thyrotoxicosis. Investigations revealed the presence of a thrombus in bilateral external, internal iliac veins, and inferior vena cava extending up to its infrahepatic part. Hormone profile and radioiodine uptake scan confirmed the diagnosis of Graves’ disease. Further workup revealed the presence of antiphospholipid antibodies (confirmed after a repeat test at 12 weeks). The patient was treated with antithyroid drugs and anticoagulants. The patient improved with normalization of thyroid function and partial recanalization of the infrahepatic part of inferior vena cava. Hyperthyroidism has been implicated as a potential hypercoagulable state; however, the association of Graves’ disease with antiphospholipid antibody syndrome is limited to isolated case reports. This case highlights a new mechanism underlying hypercoagulability associated with Graves’ disease. PMID:24812529

Jain, Ankur

2014-01-01

73

Bilateral lid/brow elevation procedure for severe ptosis in Kearns-Sayre syndrome, a mitochondrial cytopathy  

PubMed Central

Background The purpose of this work was to determine the effectiveness and possible complications encountered with bilateral fascia lata lid suspension used to correct blepharoptosis in patients with Kearns-Sayre syndrome. Methods This was a retrospective study of seven patients with Kearns-Sayre syndrome who had a minimum of 1 year of follow-up. A bilateral fascia lata sling was used to correct the ptosis. Preoperative and postoperative measurements of the vertical lid fissure width (VFW) and marginal reflex distance (MRD) were performed. The Student’s t-test was used to analyze the results. Results The mean preoperative VFW and MRD measurements were 4±2.45 mm and 0.14±0.92 mm, respectively. The mean postoperative VFW and MRD measurements were 7.71±1.85 mm, and 2.86±1.69 mm, respectively. All preoperative and postoperative values were considered to be statistically significant (P<0.01). Adequate elevation of the lids was obtained in all patients, both functionally and aesthetically. All of the patients showed a mild symmetric postoperative inferior version lagophthalmos, and one patient developed corneal ulceration and scarring due to corneal exposure and a weak Bell’s phenomenon. Conclusion The surgical technique described to correct the blepharoptosis found in patients with Kearns-Sayre syndrome was found to be efficient and relatively safe. The correction should be conservative to decrease the risk of postoperative corneal damage that occurred in one patient. PMID:25565765

Sebastiá, Roberto; Fallico, Ester; Fallico, Matteo; Fortuna, Eduardo; Lessa, Sergio; Neto, Guilherme Herzog

2015-01-01

74

Short-term results of bilateral S2–S4 sacral neuromodulation for the treatment of refractory interstitial cystitis, painful baldder syndrome, and chronic pelvic pain  

Microsoft Academic Search

We evaluated the efficacy of bilateral caudal epidural sacral neuromodulation for the treatment of refractory chronic pelvic\\u000a pain (CPP), painful bladder syndrome, and interstitial cystitis (IC). Thirty consecutive patients (21 female, 9 male) with\\u000a severe refractory symptoms underwent bilateral S2–S4 sacral neuromodulation for CPP\\/IC. Patients were evaluated with the O’Leary\\u000a IC symptom and problem index (ICSI, ICPI), the short form

Nasim Zabihi; Arthur Mourtzinos; Mary Grey Maher; Shlomo Raz; Larissa V. Rodríguez

2008-01-01

75

Pure sensory syndromes and post-stroke pain secondary to bilateral thalamic lacunar infarcts: a case report  

PubMed Central

Introduction Patients often complain about sensory symptoms that appear to the doctor as harmless, and reassurances are often given. Sensory strokes may easily be ignored. Case presentation A 48-year-old Caucasian woman with insulin-dependent diabetes and hyperlipidemia experienced symptoms that progressed within hours to a complete left-sided hemisensory syndrome. This was caused by a lacunar infarct in the ventral posterior tier nuclei of the right thalamus. A few days later she gradually developed an almost identical, but incomplete hemisensory syndrome on the opposite side caused by a corresponding lacune in the left thalamus. Severe persistent and paroxysmal pain on both sides of the body became disabling. Conclusion Small strokes only affecting the somatosensory system should not be underestimated. Neuropathic pain may result. Probably unique in the present case is the demonstration of bilateral thalamic pain secondary to two almost identical thalamic infarcts. Small vessel disease (microatheroma or lipohyalinosis) was the most likely cause of the lacunes. One can only speculate if there was an occlusion in two separate thalamic perforators, or in a single dominant artery supplying the bilateral thalami. PMID:23095785

2012-01-01

76

Staged, Open, No-Ischemia Nephron-Sparing Surgery for Bilateral-Multiple Kidney Tumors in a Patient with Birt-Hogg-Dubé Syndrome  

PubMed Central

Hereditary kidney cancer patients with bilateral multiple kidney tumors represent challenges in the era of rapidly growing minimal invasive treatment techniques. Birt-Hogg-Dubé Syndrome (BHDS) is an autosomal dominant genodermatosis characterized by a triad of benign skin tumors (fibrofolliculomas, trichodiscomas, acrochordons) together with an increased risk of developing malignant renal tumors and pulmonary disease such as pneumothoraces and multiple lung cysts. The morbidity and mortality of the affected patients is determined by the presence of the kidney tumors, which tend to be multifocal and bilateral, as observed in other hereditary kidney cancer syndromes like von Hippel-Lindau disease, familial leiomyomatosis, and hereditary papillary renal cell carcinoma. Herein, a patient with BHDS, presenting with synchronous bilateral multiple kidney tumors, is reported. The report describes the management of kidney tumors with two-stage open nephron-sparing surgery in which the nonvascular clamping technique was utilized. PMID:22611408

Tefekli, Ahmet; Akkaya, Ay?e Deniz; Peker, Kamil; Gümü?, Terman; Vural, Metin; Cezayirli, Fatin; Musaoglu, Ahmet; Esen, Tar?k

2012-01-01

77

Good visual outcome in an immunocompromised patient with bilateral acute retinal necrosis syndrome: A case report  

PubMed Central

Acute retinal necrosis (ARN) is an uncommon necrotizing, fulminant retinopathy caused by the herpes simplex virus types 1 or 2 or by the varicella zoster vírus with visually devastating consequences. Generally it occurs in patients who are systemically healthy, but occasionally occurs in immunocompromised host. We report a case of bilateral ARN in a patient with AIDS with a good final visual outcome. PMID:25278806

Marrocos de Aragão, Ricardo E.; Barreira, Ieda M.A.; Arrais, Barbara L.A.; Pereira, Leidiane A.; Ramos, Carine S.

2013-01-01

78

Bilateral Optic Neuritis in Pediatric Systemic Lupus Erythematosus with Antiphospholipid Antibody Syndrome  

Microsoft Academic Search

Bilateral optic neuritis is an extremely uncommon complication of pediatric systemic lupus erythematosus and sporadic cases\\u000a are reported in the literature. The authors describe an 11-yr-old girl who presented with fever and progressively increasing\\u000a pallor for 4 months, headache for 7 days, severe anemia and hepatosplenomegaly. Soon after admission, she developed rapid\\u000a deterioration of vision, worsening to no perception of light with

Soumya Patra; Sriram Krishnamurthy; Anju Seth; Sarita Beri; Satinder Aneja

2011-01-01

79

Temporal dynamics of perisylvian activation during language processing in children and adults  

Microsoft Academic Search

The perisylvian region of the human cortex is known to play a major role in language processing. Especially the superior temporal cortex (STC) and the inferior frontal cortex (IFC) have been investigated with respect to their particular involvement in language comprehension. In the present research, the timing of recruitment of these language-related brain areas in both hemispheres was examined as

Jens Brauer; Jane Neumann; Angela D. Friederici

2008-01-01

80

Bilateral granulosa cell tumors: a novel malignant manifestation of multiple endocrine neoplasia 1 syndrome found in a patient with a rare menin in-frame deletion  

PubMed Central

Introduction Multiple endocrine neoplasia 1 (MEN1) is a cancer syndrome resulting from mutations of the MEN1 gene. The syndrome is characterized by neoplasia of the parathyroid and pituitary glands, and malignant tumors of the endocrine pancreas. Other manifestations include benign lipomas, angiofibromas, and carcinoid tumors commonly originating in the colon, thymus, and lung. This is the first report of MEN1 syndrome manifesting as bilateral granulosa cell ovarian tumors, and which is associated with a rare intronic mutation of the MEN1 gene. Case report A 41-year-old woman presented with abdominal pain, increasing abdominal girth, and dysmenorrhea. Ultrasound demonstrated enlarged ovaries and uterine fibroids. After an exploratory laparotomy, she subsequently underwent bilateral salpingo–oophorectomy with hysterectomy where the pathology revealed bilateral cystic granulosa cell tumors of the ovaries. Additional workup including computed tomography imaging discovered a thymic mass, which the pathology showed was malignant, along with a pancreatic mass suspicious for a neuroendocrine tumor. Hyperparathyroidism was also discovered and was found to be secondary to a parathyroid adenoma. Genetic testing revealed an exceedingly rare mutation in the MEN1 gene (c.654 + 1 G>A). Discussion Mutations of the menin gene leading to MEN1 syndrome are classically nonsense or missense mutations producing a dysfunctional protein product. Recently, researchers described a novel mutation of MEN1 (c.654 + 1 G>A) in a male proband meeting the criteria for clinical MEN1 syndrome. Functional analysis performed on the stable mutant protein showed selective disruption of the transforming growth factor beta signaling pathway, yet it maintained its wild-type ability to inhibit nuclear factor kappa B and to suppress JunD transcriptional activity. Conclusion To our knowledge, this is the first report of MEN1 syndrome associated with bilateral granulosa cell malignancy. We postulate that this presentation may be due to the novel menin gene mutation recently described. PMID:25733923

Hall, Michael J; Innocent, Julie; Rybak, Christina; Veloski, Colleen; Scott, Walter J; Wu, Hong; Ridge, John A; Hoffman, John P; Borghaei, Hossein; Turaka, Aruna; Daly, Mary B

2015-01-01

81

[A report of two familial cases of Michel syndrome (bilateral agenesis of the inner ear)].  

PubMed

In two siblings, wearing conventional hearing aid, presenting profound but not total congenital deafness, with no particular antecedents, the imaging destined to confirm the indication of a cochlear implant revealed a total bilateral agenesis of the inner ear. In one of the children, this imaging was confirmed by an exploration of the middle ear performed during a tonsillectomy that was otherwise necessary. We will summarize the literature concerning Michel's Disease, exceptional in its princeps form, and we will discuss the manner of action of conventional devices in these cases which are a priori without any sensorial element. PMID:9765708

Ghazli, K; Merite-Drancy, A; Marsot-Dupuch, K; Meyer, B; Jeunesse, Y; Chouard, C H

1998-02-01

82

A rare differential diagnosis to occupational neck pain: bilateral stylohyoid syndrome  

Microsoft Academic Search

Chronic neck pain is widely prevalent and a common source of disability in the working-age population. Etiology of chronic neck pain includes neck sprain, mechanical or muscular neck pain, myofascial pain syndrome, postural neck pain as well as pain due to degenerative changes. We report the case of a 42 year old secretary, complaining about a longer history of neck

Gertrud Kirchhoff; Chlodwig Kirchhoff; Sonja Buhmann; Karl-Georg Kanz; Miriam Lenz; Tobias Vogel; Rainer Maria Kichhoff

2006-01-01

83

Varicocele-Caused Progressive Damage in Bilateral Testis and Sertoli Cell-Only Syndrome in Homolateral Testis in Rats  

PubMed Central

Background We aimed to investigate whether varicocele (VC) in rats can cause Sertoli cell-only syndrome (SCOS). Material/Methods Forty adolescent SD rats were randomly divided into 4 groups: 4-weeks control group, 4-weeks experimental group, 12-weeks control group, and 12-weeks experimental group. Left varicocele models were introduced by partially ligating left kidney veins for the experimental groups, and the sham surgery groups as controls were executed with exactly the same surgery as in the experimental groups except for the ligation. Rats in control and experimental groups for 4 and 12 weeks were killed after laparotomy at 4 and 12 weeks, respectively, the testes were taken out and fixed in fixative containing 4% polyformaldehyde, then were stained by hematoxylin and eosin (HE). The density and viability of sperm were analyzed by computer-aided sperm analysis. Results Compared with rats in 4-weeks and 12-weeks control group, histological structures of bilateral testes in both experimental groups were impaired, most of them showing as focal focuses. The pathological changes of testes in rats of the 12-weeks experimental group were bilateral, and included atrophy of seminiferous tubules, turbulence of spermatogenic cells in seminiferous tubules, defluvium of most spermatogenic cells, abortion of spermatogenesis, and degradation of spermatogenic epithelia. One rat in the 12-weeks experimental group was shown having SCOS, with the spermatogenic cells in seminiferous tubules completely flaked, degraded, or absent, and only Sertoli cells lined the seminiferous tubules. Conclusions Laboratory VC caused progressive impairment of homolateral testes, and SCOS could be induced when the damage was severe. Our results indicate that asthenozoospermia, azoospermia, and SCOS can be prevented by the earlier treatment of VC. PMID:25313556

Liu, Jianjun; Ding, Degang; Liu, Jie

2014-01-01

84

Arthroscopic treatment of bilateral snapping scapula syndrome: a case report and review of the literature.  

PubMed

Snapping scapula syndrome represents a rare entity in shoulder surgery. Clinically, it presents as shoulder pain and loud crepitus during shoulder movement. Moreover, glenohumeral bursitis can cause additional pain. Snapping scapula syndrome is caused by an increased angulation of the superomedial part of the scapula combined with bursitis. Other common causes such as subscapular osteochondroma or rib fracture non-unions were excluded. We report a 24-year-old female patient with persisting shoulder pain and disturbing crepitus during movement of the left shoulder. Radiographic examination revealed increased angulation of the superomedial scapula on both sides and MRI, bursitis of the left shoulder. The patient was successfully treated with minimally invasive arthroscopic trimming of the prominent osseous formation at the left scapula combined with bursectomy. Additionally, specific pain-adapted physiotherapeutic exercises of both shoulders were performed. The patient had a pain-free shoulder movement without crepitus on both sides at the 6th month follow-up. PMID:25803260

Freche, Sven; Juch, Franziska; Nusselt, Thomas; Delank, Karl Stefan; Hagel, Alexander

2015-01-01

85

POST?SURGICAL REHABILITATION FOLLOWING FASCIOTOMIES FOR BILATERAL CHRONIC EXERTIONAL COMPARTMENT SYNDROME IN A SPECIAL FORCES SOLDIER: A CASE REPORT  

PubMed Central

Background and Purpose: The etiology of Chronic Exertional Compartment Syndrome (CECS) is still unclear. The most commonly accepted theory suggests that it is a transient but debilitating process where there is an abnormally increased intracompartmental pressure during exercise/exertion due to non?compliant expansion of the osteofascial tissues. This most commonly occurs in the lower leg. Surgical intervention is often performed for symptom relief. However, there has been limited scientifically?based publication on post?surgical rehabilitation, especially with regard to return to function in the military population. The purpose of this case report is to demonstrate the utilization of a recommended post?operative protocol in a Special Forces Soldier. Case Description: The subject presented as a 25?year?old US Army Special Forces Soldier, who failed 8 weeks of conservative management for the diagnosis of CECS and subsequently underwent bilateral lower leg fasciotomies of the anterior and lateral compartments. Outcomes: Following recommended protocol guidelines he was progressed rapidly and within three months deployed without restriction or complications in a demanding combat zone. Discussion: This case report illustrates that following clearly defined, scientifically?based rehabilitation guidelines helped in addressing all of the involved structures and musculoskeletal dysfunctions that presented following the surgical intervention for CECS in a unique subject. Level of Evidence: 5 PMID:24175149

Miller, Joseph

2013-01-01

86

Bilateral polymicrogyria as the indicative feature in a child with a 22q11.2 deletion.  

PubMed

Polymicrogyria (PMG) is a brain malformation due to abnormal cortical organisation. It is a heterogeneous disorder associated with 22q11.2 deletion syndrome (also known as velocardiofacial (VCF) syndrome) amongst others. Since this association was first recognised in 1996, over 30 patients with PMG and 22q11.2 deletion have been described. In 22q11.2 deletion syndrome, PMG is mainly located in the perisylvian areas; it frequently has an asymmetrical presentation with a striking predisposition for the right hemisphere. Neurological features of perisylvian PMG include developmental delay/mental retardation, seizures, microcephaly, spasticity and oromotor dysfunction. Thus in children diagnosed with 22q11.2 deletion syndrome, a finding of PMG has important prognostic value. We present a seven-month old boy with microcephaly, short stature and developmental delay. A cerebral MRI showed slightly enlarged ventricles and symmetrical perisylvian polymicrogyria. A 22q11.2 deletion was revealed by array-based comparative genomic hybridization. Remarkably the boy had no other manifestations of VCF syndrome. Paediatricians, child neurologists and clinical geneticists should be aware that the presence of PMG (especially in the perisylvian areas) needs investigating for 22q11.2 deletion, even if other more common VCF syndrome features are absent. PMID:20553986

Gerkes, Erica H; Hordijk, Roel; Dijkhuizen, Trijnie; Sival, Deborah A; Meiners, Linda C; Sikkema-Raddatz, Birgit; van Ravenswaaij-Arts, Conny M A

2010-01-01

87

Multiple bilateral supernumerary mandibular premolars in a non-syndromic patient with associated orthokeratised odontogenic cyst- A case report and review of literature  

PubMed Central

Multiple supernumerary teeth are very rare, accounting for less than 1% of cases. They are commonly associated with syndromes like Gardner's syndrome and cleidocranial dysostosis and cleft lip and palate. Non-syndromic multiple supernumerary teeth have a predilection to occur in the mandibular premolar region. Orthokeratinized odontogenic cyst (OOC) is a relatively uncommon developmental cyst comprising about 10% of the cases that had been previously implied as odontogenic keratocysts. More than half of the cases of OOC are associated with impacted tooth; but not a single case of OOC associated with supernumerary teeth is reported. Hence, the purpose of this article is to report the first case of multiple supernumerary mandibular premolars associated with OOC in a 35-year-old male and to review the literature associated with multiple bilateral supernumerary mandibular premolars. PMID:23230374

Kasat, Vikrant O.; Saluja, Harish; Kalburge, Jitendra V.; Kini, Yogesh; Nikam, Atul; Laddha, Ruchi

2012-01-01

88

Long-term study of subclinical Cushing's syndrome shows high prevalence of extra-adrenal malignancy in patients with functioning bilateral adrenal tumors.  

PubMed

Subclinical Cushing's syndrome (SCS) is characterized by subtle autonomous cortisol secretion from adrenal tumors without specific signs and symptoms of hypercortisolism. Patients with SCS have a high prevalence of "lifestyle-related diseases," such as hypertension, diabetes mellitus, dyslipidemia, and osteoporosis. Long-term follow-up of SCS patients is reportedly indispensable for establishing indications for surgical treatment of SCS. We performed a follow-up survey of 27 patients with SCS (median: 5.3 years) and compared those who had undergone surgical treatment (n=15) with those who had not (n=12). The mean diameter of tumors was 31 mm; 16 (59%) patients had unilateral lesions and 11 (41%) carried bilateral ones. In 67% and 60% of the treatment group, respectively, hypertension and diabetes mellitus improved. We also noticed that eight of 11 (73%) SCS patients with bilateral adrenal tumors had extra-adrenal malignancies in various tissues. Interestingly, among nine SCS patients who had malignancies, eight showed bilateral adrenal uptake in (131)I-aldosterol scintigraphy. The results imply that surgical treatment can reduce cardiovascular risks in SCS patients. Screening for malignancy may be necessary in patients with bilateral adrenal tumors suspected of autonomous hypersecretion of cortisol from both sides. PMID:25223468

Kawate, Hisaya; Kohno, Michiko; Matsuda, Yayoi; Akehi, Yuko; Tanabe, Makito; Horiuchi, Toshihiro; Ohnaka, Keizo; Nomura, Masatoshi; Yanase, Toshihiko; Takayanagi, Ryoichi

2014-12-25

89

Bilateral vestibular loss.  

PubMed

Bilateral vestibular loss is a rare cause of visual disturbance (oscillopsia) and imbalance. When severe, the most common cause is iatrogenic-gentamicin ototoxicity. Bilateral loss is easily diagnosed at the bedside with the dynamic illegible E test. If this test is omitted, it can easily be misdiagnosed as a cerebellar syndrome. Treatment is largely supportive. Care should be taken to avoid medications that suppress vestibular function, and to encourage activity. PMID:24057822

Hain, Timothy C; Cherchi, Marcello; Yacovino, Dario A

2013-07-01

90

Short-term results of bilateral S2-S4 sacral neuromodulation for the treatment of refractory interstitial cystitis, painful bladder syndrome, and chronic pelvic pain.  

PubMed

We evaluated the efficacy of bilateral caudal epidural sacral neuromodulation for the treatment of refractory chronic pelvic pain (CPP), painful bladder syndrome, and interstitial cystitis (IC). Thirty consecutive patients (21 female, 9 male) with severe refractory symptoms underwent bilateral S2-S4 sacral neuromodulation for CPP/IC. Patients were evaluated with the O'Leary IC symptom and problem index (ICSI, ICPI), the short form of the Urogenital Distress Inventory (UDI-6), and the RAND 36-item health survey (SF-36) preoperatively and 6 months postoperatively. The mean and minimum follow-up were 15 and 6 months, respectively. Of the 30 patients, 23 (77%) had a successful trial stimulation and were permanently implanted. Among these patients, the ICSI and ICPI scores improved by 35 (p = 0.005) and 38% (p = 0.007), respectively. The pain score improved by 40% (p = 0.04) and the UDI-6 score by 26% (p = 0.05). On average, patients reported a 42% improvement in their symptoms. SF-36 scores did not improve significantly. In refractory patients, bilateral caudal epidural sacral neuromodulation is another possible mode of treatment, which appears to improve both pelvic pain and voiding symptoms. PMID:17925994

Zabihi, Nasim; Mourtzinos, Arthur; Maher, Mary Grey; Raz, Shlomo; Rodríguez, Larissa V

2008-04-01

91

A novel mutation of the PTEN gene in a Japanese patient with Cowden syndrome and bilateral breast cancer  

Microsoft Academic Search

Cowden syndrome (CS), also known as multiple hamartoma syndrome, is an autosomal dominant cancer syndrome associated with a high risk of breast and thyroid cancers. The phosphatase and tensin homolog gene (PTEN) encodes a lipid phosphatase that contains a PTPase domain and a C2 domain and plays a role as a tumor suppressor that negatively regulates the cell-survival signaling pathway

Genshu Tate; Takao Suzuki; Yutaka Endo; Toshiyuki Mitsuya

2008-01-01

92

[Bilateral tumors of the eyebrows].  

PubMed

We report about a 5-year-old boy who presented in our clinic with bilateral, slowly progressive solid tumors of the eyebrows. Histological examination of the excised tumors revealed the typical diversified picture of pilomatrixoma with basophilic and shadow cells. The bilateral or multiple manifestation of pilomatrixoma is uncommon and can be associated with myotonic dystrophy, sarcoidosis or Gardner's syndrome. PMID:20393727

Süsskind, D; Rohrbach, J M; Besch, D; Jaissle, G B

2010-06-01

93

Parallel versus Serial Processing Dependencies in the Perisylvian Speech Network: A Granger Analysis of Intracranial EEG Data  

ERIC Educational Resources Information Center

In this work, we apply Granger causality analysis to high spatiotemporal resolution intracranial EEG (iEEG) data to examine how different components of the left perisylvian language network interact during spoken language perception. The specific focus is on the characterization of serial versus parallel processing dependencies in the dominant…

Gow, David W., Jr.; Keller, Corey J.; Eskandar, Emad; Meng, Nate; Cash, Sydney S.

2009-01-01

94

Am. J. Hum. Genet. 70:10031008, 2002 A Locus for Bilateral Perisylvian Polymicrogyria Maps to Xq28  

E-print Network

for Child Health, London; and 8 Children's Neuroscience Center and Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Melbourne, Australia Polymicrogyria (PMG) is one of a large group, 2001; accepted for publication January 2, 2002; electronically published January 29, 2002. Address

Cossart, Rosa

95

Auditory verbal hallucinations and brain dysconnectivity in the perisylvian language network: a multimodal investigation.  

PubMed

Neuroimaging studies of schizophrenia have indicated that the development of auditory verbal hallucinations (AVHs) is associated with altered structural and functional connectivity within the perisylvian language network. However, these studies focussed mainly on either structural or functional alterations in patients with chronic schizophrenia. Therefore, they were unable to examine the relationship between the 2 types of measures and could not establish whether the observed alterations would be expressed in the early stage of the illness. We used diffusion tensor imaging and functional magnetic resonance imaging to examine white matter integrity and functional connectivity within the left perisylvian language network of 46 individuals with an at risk mental state for psychosis or a first episode of the illness, including 28 who had developed AVH group and 18 who had not (nonauditory verbal hallucination [nAVH] group), and 22 healthy controls. Inferences were made at P < .05 (corrected). The nAVH group relative to healthy controls showed a reduction of both white matter integrity and functional connectivity as well as a disruption of the normal structure-function relationship along the fronto-temporal pathway. For all measures, the AVH group showed intermediate values between healthy controls and the nAVH group. These findings seem to suggest that, in the early stage of the disorder, a significant impairment of fronto-temporal connectivity is evident in patients who do not experience AVHs. This is consistent with the hypothesis that, whilst mild disruption of connectivity might still enable the emergence of AVHs, more severe alterations may prevent the occurrence of the hallucinatory experience. PMID:24361862

Benetti, Stefania; Pettersson-Yeo, William; Allen, Paul; Catani, Marco; Williams, Steven; Barsaglini, Alessio; Kambeitz-Ilankovic, Lana M; McGuire, Philip; Mechelli, Andrea

2015-01-01

96

Segregation of lexical and sub-lexical reading processes in the left perisylvian cortex.  

PubMed

A fundamental issue in cognitive neuroscience is the existence of two major, sub-lexical and lexical, reading processes and their possible segregation in the left posterior perisylvian cortex. Using cortical electrostimulation mapping, we identified the cortical areas involved on reading either orthographically irregular words (lexical, "direct" process) or pronounceable pseudowords (sublexical, "indirect" process) in 14 right-handed neurosurgical patients while video-recording behavioral effects. Intraoperative neuronavigation system and Montreal Neurological Institute (MNI) stereotactic coordinates were used to identify the localization of stimulation sites. Fifty-one reading interference areas were found that affected either words (14 areas), or pseudo-words (11 areas), or both (26 areas). Forty-one (80%) corresponded to the impairment of the phonological level of reading processes. Reading processes involved discrete, highly localized perisylvian cortical areas with individual variability. MNI coordinates throughout the group exhibited a clear segregation according to the tested reading route; specific pseudo-word reading interferences were concentrated in a restricted inferior and anterior subpart of the left supramarginal gyrus (barycentre x?=?-68.1; y?=?-25.9; z?=?30.2; Brodmann's area 40) while specific word reading areas were located almost exclusively alongside the left superior temporal gyrus. Although half of the reading interferences found were nonspecific, the finding of specific lexical or sublexical interferences is new evidence that lexical and sublexical processes of reading could be partially supported by distinct cortical sub-regions despite their anatomical proximity. These data are in line with many brain activation studies that showed that left superior temporal and inferior parietal regions had a crucial role respectively in word and pseudoword reading and were core regions for dyslexia. PMID:23226349

Roux, Franck-Emmanuel; Durand, Jean-Baptiste; Jucla, Mélanie; Réhault, Emilie; Reddy, Marion; Démonet, Jean-François

2012-01-01

97

A rare interstitial duplication of 8q22.1-8q24.3 associated with syndromic bilateral cleft lip/palate.  

PubMed

We present a rare case of 8q interstitial duplication derived from maternal balanced translocations in a patient with bilateral cleft lip and palate in syndromic form associated with other congenital malformations. G-banding cytogenetic analysis revealed a chromosomal abnormality in the form of the karyotype 46,XX der(22)t(8;22)(q22.1;p11.1)mat. Chromosome microarray analysis evidenced a 49?Mb duplicated segment of chromosome 8q with no pathogenic imbalances on chromosome 22. Two siblings also carry the balanced translocation. We have compared this case with other "pure" trisomies of 8q patients reported in the literature and with genome wide association studies recently published. This work highlights the involvement of chromosome 8q in orofacial clefts. PMID:25506438

Rezek, Regina Ferreira; Rodrigues Abbas, Ana Angélica; Forte Mazzeu, Juliana; Duarte Miranda, Siliana Maria; Velloso-Rodrigues, Cibele

2014-01-01

98

A Rare Interstitial Duplication of 8q22.1–8q24.3 Associated with Syndromic Bilateral Cleft Lip/Palate  

PubMed Central

We present a rare case of 8q interstitial duplication derived from maternal balanced translocations in a patient with bilateral cleft lip and palate in syndromic form associated with other congenital malformations. G-banding cytogenetic analysis revealed a chromosomal abnormality in the form of the karyotype 46,XX der(22)t(8;22)(q22.1;p11.1)mat. Chromosome microarray analysis evidenced a 49?Mb duplicated segment of chromosome 8q with no pathogenic imbalances on chromosome 22. Two siblings also carry the balanced translocation. We have compared this case with other “pure” trisomies of 8q patients reported in the literature and with genome wide association studies recently published. This work highlights the involvement of chromosome 8q in orofacial clefts. PMID:25506438

Rezek, Regina Ferreira; Rodrigues Abbas, Ana Angélica; Forte Mazzeu, Juliana; Duarte Miranda, Siliana Maria; Velloso-Rodrigues, Cibele

2014-01-01

99

Complete bilateral ophthalmoplegia with unilateral facial palsy in a child with anti-GQ1b syndrome.  

PubMed

The classical phenotype of Miller Fisher syndrome is characterized by ophthalmoplegia, ataxia and areflexia. However, less extensive forms have been described. The authors report a 14-y-old boy with positive anti-GQ1b antibodies with unusual clinical findings. He presented with headache, double vision and vomiting for 7 d. Examination revealed complete opththalmoplegia, right lower-motor-neuron facial palsy, no limb weakness or cerebellar signs and normal fundus. CSF examination and MRI brain were normal. Electrophysiological studies showed normal limb nerve conduction studies, low CMAP amplitude of right facial nerve, abnormal blink reflex and negative repetitive-nerve-stimulation test. Anti-GQ1b antibodies were positive. The child was managed conservatively with gradual complete recovery. The patients with positive anti-GQ1b antibodies who do not demonstrate the full complement of the Miller Fisher syndrome triad have been reported previously. However, unilateral facial palsy has not been reported previously. This report further expands the phenotypic spectrum of anti-GQ1b syndrome. PMID:24997143

Kauser, Hina; Jain, Puneet; Sharma, Suvasini; Aneja, Satinder

2015-02-01

100

Functional organization of perisylvian activation during presentation of sentences in preverbal infants  

PubMed Central

We examined the functional organization of cerebral activity in 3-month-old infants when they were listening to their mother language. Short sentences were presented in a slow event-related functional MRI paradigm. We then parsed the infant's network of perisylvian responsive regions into functionally distinct regions based on their speed of activation and sensitivity to sentence repetition. An adult-like structure of functional MRI response delays was observed along the superior temporal regions, suggesting a hierarchical processing scheme. The fastest responses were recorded in the vicinity of Heschl's gyrus, whereas responses became increasingly slower toward the posterior part of the superior temporal gyrus and toward the temporal poles and inferior frontal regions (Broca's area). Activation in the latter region increased when the sentence was repeated after a 14-s delay, suggesting the early involvement of Broca's area in verbal memory. The fact that Broca's area is active in infants before the babbling stage implies that activity in this region is not the consequence of sophisticated motor learning but, on the contrary, that this region may drive, through interactions with the perceptual system, the learning of the complex motor sequences required for future speech production. Our results point to a complex, hierarchical organization of the human brain in the first months of life, which may play a crucial role in language acquisition in our species. PMID:16968771

Dehaene-Lambertz, Ghislaine; Hertz-Pannier, Lucie; Dubois, Jessica; Mériaux, Sébastien; Roche, Alexis; Sigman, Mariano; Dehaene, Stanislas

2006-01-01

101

The relationship between the fluoroangiographic aspect of the optic disk and the visual field in patients with the exfoliation syndrome with and without intraocular hypertension. Part I: Bilateral cases.  

PubMed

95 eyes of patients with bilateral exfoliation syndrome (ES) were examined with fluoroangiography. The visual field and the intraocular pressure were tested in the same eyes. The relationship between visual field defects, fluoroangiographic changes of the optic disk and intraocular hypertension is discussed. The results show that when hypertension and defects of perfusion are present in the same eye the visual field defect is always present and it is more severe. PMID:2853923

Cambiaggi, A; Marras, A

1988-01-01

102

A Case Report of Bilateral Mirror Clubfeet and Bilateral Hand Polydactyly  

PubMed Central

We report a rare case of a patient with bilateral mirror clubfeet and bilateral hand polydactyly. The patient presented to our orthopaedic clinic with bilateral mirror clubfeet, each with eight toes, and bilateral hands with six fingers and a hypoplastic thumb. The pattern does not fit any described syndrome such as Martin or Laurin-Sandrow syndrome. Treatments by an orthopaedic pediatric surgeon and an orthopaedic pediatric hand surgeon are described. The patient achieved excellent functional and cosmetic outcomes at four year follow-up. PMID:25328478

Nguyen, Mai P; Lawler, Ericka A; Morcuende, Jose A

2014-01-01

103

A new syndrome sheds light on old medical & rehabilitative dilemmas: paraparesis due to rhabdomyolysis and bilaterally symmetric compartment syndrome in four patients. Cases study.  

PubMed

Via our description of a seemingly heterogeneous group of four patients who presented to our rehabilitation facility with a rather unusual clinical presentation of compartment syndrome with development of a flaccid paraparesis and rhabdomyolysis immediately after awakening from a prolonged sleep episode in an unusual posture - which might, in fact, be a 'new syndrome' - we have also come to address an important issue linking our group of patients - specifically, the complexities which present to a rehabilitative facility in the cases of unusual and unclear diagnoses. Eventually, all four of our patients remained severely disabled. All had suffered sensorimotor axonal demyelinative polyneuropathies and two patients had subclinical hypothyroidism. Prior to the prolonged sleep episode, they had all consumed alcohol and drugs. Using these four rather demanding diagnostic rehabilitative cases we address the ever-important issue of timely mutual communication and patience. For when a rehabilitative facility is confronted with patients whose diagnoses are not clear, the scope of the long-term comprehensive rehabilitation management faces some major obstacles with respect to how the rehabilitative team can succeed in designing a 'tailor-made' rehabilitation program for these patients, which often-times proves to be a rather tricky task requiring innovative and creative efforts on the parts of all those involved in the care of the patient. Quite a challenging task, indeed, yet one genuinely necessary to attempt to achieve so that the patient, family and, of course, the 'payer agency/provider' can all prepare themselves, realistically so as to obtain the best overall rehabilitative outcome for these patients. We conclude that what is most necessary for these unique patients is patience. PMID:21273651

Goldin, Diana; Shemesh, Frida; Eljashev-Shimshon, Rachel; Ohry, Avi

2010-01-01

104

Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy.  

PubMed Central

We have recently observed a large pedigree with a new rare autosomal dominant spastic paraparesis. In three subsequent generations, 13 affected individuals presented with bilateral cataracts, gastroesophageal reflux with persistent vomiting, and spastic paraparesis with amyotrophy. Bilateral cataracts occurred in all affected individuals, with the exception of one patient who presented with a chorioretinal dystrophy, whereas clinical signs of spastic paraparesis showed a variable expressivity. Using a genomewide mapping approach, we mapped the disorder to the long arm of chromosome 10 on band q23.3-q24.2, in a 12-cM chromosomal region where additional neurologic disorders have been localized. The spectrum of phenotypic manifestations in this family is reminiscent of a smaller pedigree, reported recently, confirming the possibility of a new syndrome. Finally, the anticipation of symptoms suggests that an unstable trinucleotide repeat may be responsible for the condition. PMID:9973297

Seri, M; Cusano, R; Forabosco, P; Cinti, R; Caroli, F; Picco, P; Bini, R; Morra, V B; De Michele, G; Lerone, M; Silengo, M; Pela, I; Borrone, C; Romeo, G; Devoto, M

1999-01-01

105

Bilateral odontogenic keratocyst of the mandible.  

PubMed

Odontogenic keratocyst (OKC) is a cyst of dental origin with an aggressive clinical behavior, having high recurrence rate. Multiple cysts are associated with bifid-rib basal cell nevus syndrome (Gorlin syndrome). We present a case of bilateral odontogenic keratocyst in a cleft lip patient. PMID:25018611

Ram, Hari; Mohammad, Shadab; Husain, Nuzhat; Gupta, Shalini; Kumar, Ajay

2014-09-01

106

Bilateral pallidotomy for treatment of Parkinson's disease induced corticobulbar syndrome and psychic akinesia avoidable by globus pallidus lesion combined with contralateral stimulation  

PubMed Central

OBJECTIVE—Posteroventral pallidotomy (PVP) has proved to be an effective method for the treatment of Parkinson's disease. However, data on bilateral procedures are still limited. To assess the effects of bilateral globus pallidus (GPi) lesion and to compare it with a combination of unilateral GPi lesion plus contralateral GPi stimulation (PVP+PVS), an open blind randomised trial was designed.?METHODS—A prospective series of patients with severe Parkinson's disease refractory to medical treatment, and severe drug induced dyskinesias, were randomised either to simultaneous bilateral PVP or simultaneous PVP+PVS. All patients were assessed with the core assessment programme for intracerebral transplantation (CAPIT), and a comprehensive neuropsychological and neuropsychiatric battery both before surgery and 3 months later.?RESULTS—The severe adverse effects found in the first three patients subjected to bilateral PVP led to discontinuation of the protocol. All three patients developed depression and apathy. Speech, salivation, and swallowing, as well as freezing, walking, and falling, dramatically worsened. By contrast, all three patients undergoing PVP+PVS had a significant motor improvement.?CONCLUSION—Bilateral simultaneous lesions within the GPi may produce severe motor and psychiatric complications. On the other hand, a combination of PVP+ PVS significantly improves parkinsonian symptoms not associated with the side effects elicited by bilateral lesions.?? PMID:11606671

Merello, M; Starkstein, S; Nouzeilles, M; Kuzis, G; Leiguarda, R

2001-01-01

107

A case presentation of bilateral simultaneous Bell's palsy.  

PubMed

Bilateral simultaneous facial paralysis is an extremely rare clinical entity. Unlike the unilateral form, bilateral facial paralysis seldom falls into Bell's category. It is most often a special finding in a symptom complex of a systemic disease; many of them are potentially life-threatening, and therefore the condition warrants urgent medical intervention. Lyme disease, Guillian-Barre syndrome, Bell's palsy, leukemia, sarcoidosis, bacterial meningitis, syphilis, leprosy, Moebius syndrome, infectious mononucleosis, and skull fracture are the most common cause of bilateral facial paralysis. Here we present a 16-year-old patient with bilateral simultaneous Bell's palsy. PMID:12884223

Kilic, Rahmi; Ozdek, Ali; Felek, Sevim; Safak, M Asim; Samim, Erdal

2003-01-01

108

Moxifloxacin and bilateral acute iris transillumination  

PubMed Central

Recent publications have alerted clinicians to a syndrome of uveitic transilluminating iris depigmentation associated with systemic fluoroquinolones and other antibiotics. Bilateral acute iris transillumination, which is associated with loss of the iris pigment epithelium and results in iris transillumination, differs from the previously described bilateral acute depigmentation of the iris, which is associated with atrophy of the iris stroma without transillumination. We present a case of fluoroquinolone-associated uveitis with anterior segment optical coherence tomography imaging to highlight some observations about this syndrome. We interpret pharmacokinetic data to help explain why oral, but not topical, moxifloxacin may cause fluoroquinolone-associated uveitis. PMID:23514193

2013-01-01

109

A de novo 4.4-Mb microdeletion in 2p24.3 ? p24.2 in a girl with bilateral hearing impairment, microcephaly, digit abnormalities and Feingold syndrome.  

PubMed

We report a 26-month-old girl with profound hearing impairment, microcephaly, psychomotor retardation, short palpebral fissures, hypertelorism, epicanthic folds, a broad nasal bridge, anteverted nostrils, large low-set ears, micrognathia, brachymesophalangy of the second and the fifth fingers, clinodactyly of bilateral fifth fingers and a wide interdigital space between the first and the second toes, carrying a 4.4-Mb de novo microdeletion of chromosome 2p24.3 ? p24.2. This region contains the genes of FAM84A, NBAS, DDX1, MYCNOS and MYCN, of which haploinsufficiency or mutations of the MYCN gene is associated with Feingold syndrome. Brain magnetic resonance imaging revealed cochlear nerve hypoplasia and internal auditory canal stenosis. Temporal bone computed tomography showed abnormal dilation of bilateral vestibular and lateral semicircular canals. The present case provides evidence that haploinsufficiency of MYCN in 2p24.3 deletion in humans can cause structural and functional abnormalities of the inner ear. PMID:22842076

Chen, Chih-Ping; Lin, Shuan-Pei; Chern, Schu-Rern; Wu, Peih-Shan; Chang, Shuenn-Dyh; Ng, Shu-Hang; Liu, Yu-Peng; Su, Jun-Wei; Wang, Wayseen

2012-11-01

110

Coexistence of bilateral first and second branchial arch anomalies.  

PubMed

Branchial arch anomalies are one of the most common congenital anomalies that are usually unilateral and bilateral presentation is rare. The simultaneous presence of bilateral second branchial arch anomalies along with bilateral first arch anomalies is extremely rare, with only three such cases reported in the literature. We present two non-syndromic cases of coexisting bilateral first and second arch anomalies. Developmental anomalies of the branchial apparatus account for 17% of all paediatric cervical masses and are the most common type of congenital cervical mass. They usually present in the paediatric age group. About 96-97% of these anomalies are unilateral. Bilateral presentation is seen in 2-3% having a strong familial association. Congenital syndromes also have been associated with first and second branchial arch anomalies. Thorough clinical examination and investigations should be done to rule out these syndromes. PMID:23580675

Thakur, J S; Shekar, Vidya; Saluja, Manika; Mohindroo, N K

2013-01-01

111

Coexistence of bilateral first and second branchial arch anomalies  

PubMed Central

Branchial arch anomalies are one of the most common congenital anomalies that are usually unilateral and bilateral presentation is rare. The simultaneous presence of bilateral second branchial arch anomalies along with bilateral first arch anomalies is extremely rare, with only three such cases reported in the literature. We present two non-syndromic cases of coexisting bilateral first and second arch anomalies. Developmental anomalies of the branchial apparatus account for 17% of all paediatric cervical masses and are the most common type of congenital cervical mass. They usually present in the paediatric age group. About 96–97% of these anomalies are unilateral. Bilateral presentation is seen in 2–3% having a strong familial association. Congenital syndromes also have been associated with first and second branchial arch anomalies. Thorough clinical examination and investigations should be done to rule out these syndromes. PMID:23580675

Thakur, J S; Shekar, Vidya; Saluja, Manika; Mohindroo, N K

2013-01-01

112

Bilateral Visual Loss as Presenting Symptom of Posterior Reversible Encephalopathy Syndrome in a Patient with HIV/Tuberculosis Coinfection: A Case Report  

PubMed Central

Posterior reversible encephalopathy syndrome (PRES) is a neurotoxic state accompanied by a unique brain imaging pattern. This cliniconeuroradiological entity usually presents with visual disturbances (cortical blindness, homonymous hemianopia, visual neglect, and blurred vision) along with neurotoxic manifestations. Only a few cases of PRES have previously been reported in patients with advanced HIV disease. The authors describe a case of posterior reversible encephalopathy syndrome (PRES) in a patient with advanced HIV/TBC infection who developed a neurotoxic state following TB and ART therapy initiation. They present a comprehensive review of the literature and discuss the pathogenetic hypotheses. PMID:23243537

Guerriero, S.; Ciracì, L,; Centoducati, T.; Pignatelli, F.; Lamargese, V.; Salvati, A.; Dicuonzo, F.

2012-01-01

113

Bilateral Molariform Mandibular Second Premolars  

PubMed Central

Macrodontia is a rare dental anomaly that refers to teeth that appear larger than normal. Generalised macrodontia can be associated with certain medical conditions and syndromes. This case report presents clinical and radiographic findings of isolated bilateral macrodontia in a 14-year-old child. The patient was referred to the clinic with local crowding of maxillary and mandibular teeth. Radiographic findings revealed the presence of impacted macrodont mandibular second premolar on one side and erupted macrodontic premolar on the other side and their distinct morphological appearance, characterized by large, multitubercular, and molariform crowns and tapering, single roots. PMID:25685564

Acharya, Sonu; Kumar Mandal, Pradip; Ghosh, Chiranjit

2015-01-01

114

Somato-Motor Haptic Processing in Posterior Inner Perisylvian Region (SII/pIC) of the Macaque Monkey  

PubMed Central

The posterior inner perisylvian region including the secondary somatosensory cortex (area SII) and the adjacent region of posterior insular cortex (pIC) has been implicated in haptic processing by integrating somato-motor information during hand-manipulation, both in humans and in non-human primates. However, motor-related properties during hand-manipulation are still largely unknown. To investigate a motor-related activity in the hand region of SII/pIC, two macaque monkeys were trained to perform a hand-manipulation task, requiring 3 different grip types (precision grip, finger exploration, side grip) both in light and in dark conditions. Our results showed that 70% (n?=?33/48) of task related neurons within SII/pIC were only activated during monkeys’ active hand-manipulation. Of those 33 neurons, 15 (45%) began to discharge before hand-target contact, while the remaining neurons were tonically active after contact. Thirty-percent (n?=?15/48) of studied neurons responded to both passive somatosensory stimulation and to the motor task. A consistent percentage of task-related neurons in SII/pIC was selectively activated during finger exploration (FE) and precision grasping (PG) execution, suggesting they play a pivotal role in control skilled finger movements. Furthermore, hand-manipulation-related neurons also responded when visual feedback was absent in the dark. Altogether, our results suggest that somato-motor neurons in SII/pIC likely contribute to haptic processing from the initial to the final phase of grasping and object manipulation. Such motor-related activity could also provide the somato-motor binding principle enabling the translation of diachronic somatosensory inputs into a coherent image of the explored object. PMID:23936121

Ishida, Hiroaki; Fornia, Luca; Grandi, Laura Clara; Umiltà, Maria Alessandra; Gallese, Vittorio

2013-01-01

115

Bilateral taurodontism in primary dentition with hypodontia.  

PubMed

Taurodontism is a rare dental anomaly in which there is an enlarged pulp chamber at the expense of roots with apical displacement of the pulpal floor, giving it a rectangular shape. It is caused by the failure of Hertwig's epithelial root sheath to invaginate at the proper horizontal level. Taurodontism has been reported as an intraoral feature of several syndromes like Down syndrome, Klinefelter syndrome, Smith-Magenis syndrome, Hurler syndrome, etc. Association of taurodontism with hypodontia in permanent dentition has also been reported. Taurodontism in primary dentition and its association with hypodontia is very rarely reported in the literature. The present case illustrates bilateral taurodontism of primary mandibular molars with hypodontia in maxilla. PMID:23345504

Surendar, Marappan Natarajan; Pandey, Ramesh Kumar; Khanna, Richa

2013-01-01

116

Gonadoblastoma bilateral y disgerminoma asociados en un síndrome de Swyer  

Microsoft Academic Search

Swyer syndrome is a pure gonadal dysgenesis with female phenotype and 46 XY karyotype. Affected individuals have dysgenetic and non-functioning gonads. The risk of gonadal neoplasia is high at between 25% and 30%. The most frequently reported malignancies are gonadoblastoma and disgerminoma. We report a case of bilateral gonadoblastoma and dysgerminoma in a female patient with this syndrome.

Rosa María Martínez Cabañero; María Carmen Serna Torrijos; Raquel Villar Jiménez; Teresa Gómez García; Juan Pablo García de la Torre; Gaspar González de Merlo

2010-01-01

117

Bilateral Occipital Condyle Fracture  

PubMed Central

Occipital condyle fractures are a rare finding in trauma victims. Bilateral fractures are even more unusual and have typically been reported in autopsy studies. We treated two patients with bilateral occipital condyle fractures who had only minor symptoms. Anderson and Montesano's classification,1 possible cranial nerve palsies, diagnosis, and treatment of this rare fracture are discussed. ImagesFigure 1Figure 2 PMID:17167657

Schrödel, Markus H.; Kestlmeier, Ralph; Trappe, Anna E.

2002-01-01

118

Bilateral assymetric epidural hematoma  

PubMed Central

Background: Acute bilateral extradural hematoma is a rare presentation of head trauma injury. In sporadic cases, they represent 0.5–10% of all extradural hematomas. However, higher mortality rates have been reported in previous series. Case Description: The authors described the case of a 28-year-old male presenting head injury, comatose, Glasgow Coma Scale of 6, anisocoric pupils without puppilary light reflex. Computed tomography showed asymmetric bilateral epidural hematomas, effacement of the lateral ventricles and sulci, midline shift and a bilateral skull fracture reaching the vertex. Surgical evacuation was performed with simultaneous hematoma drainage. Patient was discharged on the 29th postoperative day with no neurological deficit. Conclusion: The correct approach on bilateral epidural hematomas depends on the volume, moment of diagnosis, and neurological deficit level. Simultaneous drainage of bilateral hematomas has been demonstrated to be an effective technique for it, which soon decreases the intracranial pressure and promotes an efficient resolution to the neurological damage. PMID:25657867

Pereira, Edmundo Luis Rodrigues; Rodrigues, Daniella Brito; Lima, Lorena Oliveira; Sawada, Luis Armando; Hermes, Mário de Nazareth

2015-01-01

119

Bilateral and symmetrical tinea mammae  

E-print Network

present a case of bilateral tinea mammae, which has not beenLetter Bilateral and symmetrical tinea mammae Murat Y?lmaz,bilateral symmetrical tinea infection on the breast area. Reported unilateral tinea mammae

Yilmaz, Murat; Kavak, Ayse; Yamaner, Nalan Jale

2013-01-01

120

Changes of symptom and EEG in mal de debarquement syndrome patients after repetitive transcranial magnetic stimulation over bilateral prefrontal cortex: a pilot study.  

PubMed

Mal de debarquement syndrome (MdDS) is a chronic disorder of imbalance characterized by a feeling of rocking and swaying. The medical treatment for MdDS is still limited. Motivated by our previous pilot study that demonstrates the promising clinical efficacy of repetitive transcranial stimulation (rTMS) in MdDS patients, a novel rTMS paradigm, i.e., 1 Hz stimulation over ipsilateral dorsal lateral prefrontal cortex (DLPFC) with respect to the dominant hand followed by 10 Hz stimulation over contralateral DLPFC, was proposed and conducted in MdDS in the present study. To evaluate the potential efficacy, we examined the changes before and after rTMS in both subjective reported symptom using visual analogue scale (VAS) and direct brain activity in resting state electroencephalography (rsEEG). To disentangle activity from distinct brain substrates and/or local networks in rsEEG signals, a group-wise independent component analysis was employed and the corresponding spectral power changes were examined in the identified components. In general, reduction in rocking sensation was reported in five of ten subjects (with dramatic reductions (changes > 30) in three subjects) after rTMS using the present paradigm, while no changes and slight increases in rocking sensation were reported in the remaining subjects. In rsEEG, significant elevated spectral powers in low frequency bands (i.e., theta and alpha) over broad areas of occipital, parietal, motor, and prefrontal cortices were induced by rTMS, reflecting the enhancement of cortical inhibition over these areas. Meanwhile, the significant correlations between changes in rsEEG and VAS scores were detected in the high frequency bands (i.e., high alpha and beta) over posterior parietal and left visual areas, reflecting the suppression of spatial information processing. Therefore, the present findings demonstrate the promising clinical efficacy of a new rTMS paradigm for MdDS, and suggest its merit for further studies in more patients. PMID:25570942

Guofa Shou; Han Yuan; Urbano, Diamond; Yoon-Hee Cha; Lei Ding

2014-01-01

121

A case presentation of bilateral simultaneous Bell’s palsy  

Microsoft Academic Search

Bilateral simultaneous facial paralysis is an extremely rare clinical entity. Unlike the unilateral form, bilateral facial paralysis seldom falls into Bell’s category. It is most often a special finding in a symptom complex of a systemic disease; many of them are potentially life-threatening, and therefore the condition warrants urgent medical intervention. Lyme disease, Guillian-Barre syndrome, Bell’s palsy, leukemia, sarcoidosis, bacterial

Rahmi Kilic; Ali Ozdek; Sevim Felek; M. Asim Safak; Erdal Samim

2003-01-01

122

Bilateral lateral periodontal cyst.  

PubMed

The bilateral lateral periodontal cyst is a rare nasological entity, which despite clinical and radiological presentation is being diagnosed by histological characteristics. It is asymptomatic in nature and is observed in routine radiography. The aim and objective of this article is to present a rare case of bilateral lateral periodontal cyst in a 14-year-old child. The clinical and radiographical findings, along with its management have been discussed. Enucleation of bilateral cyst without extraction of the adjacent tooth was performed. Lesion samples were sent for histopathological analysis. The histopathological analysis revealed a thin, non keratinised stratified squamous epithelium resembling reduced enamel epithelium. Epithelial plaques were also seen. A clinicopathological correlation incorporating the surgical, radiographical and gold standard histopathological findings was obtained to suggest the final diagnosis of the bilateral lateral periodontal cyst. PMID:23667246

Govil, Somya; Gupta, Vishesh; Misra, Neeta; Misra, Pradyumna

2013-01-01

123

Echinoderms have bilateral tendencies.  

PubMed

Echinoderms take many forms of symmetry. Pentameral symmetry is the major form and the other forms are derived from it. However, the ancestors of echinoderms, which originated from Cambrian period, were believed to be bilaterians. Echinoderm larvae are bilateral during their early development. During embryonic development of starfish and sea urchins, the position and the developmental sequence of each arm are fixed, implying an auxological anterior/posterior axis. Starfish also possess the Hox gene cluster, which controls symmetrical development. Overall, echinoderms are thought to have a bilateral developmental mechanism and process. In this article, we focused on adult starfish behaviors to corroborate its bilateral tendency. We weighed their central disk and each arm to measure the position of the center of gravity. We then studied their turning-over behavior, crawling behavior and fleeing behavior statistically to obtain the center of frequency of each behavior. By joining the center of gravity and each center of frequency, we obtained three behavioral symmetric planes. These behavioral bilateral tendencies might be related to the A/P axis during the embryonic development of the starfish. It is very likely that the adult starfish is, to some extent, bilaterian because it displays some bilateral propensity and has a definite behavioral symmetric plane. The remainder of bilateral symmetry may have benefited echinoderms during their evolution from the Cambrian period to the present. PMID:22247765

Ji, Chengcheng; Wu, Liang; Zhao, Wenchan; Wang, Sishuo; Lv, Jianhao

2012-01-01

124

Sirenomelia: the mermaid syndrome  

Microsoft Academic Search

Sirenomelia, or mermaid syndrome, is the extreme form of caudal regression syndrome. We present another case of this fascinating anomaly with fused lower limbs, absent external genitalia, and absent genitourinary system. The patient could not be salvaged because of bilateral renal agenesis. Detailed autopsy findings and a review of the literature are presented.

I. V. Meisheri; V. S. Waigankar; M. P. Patel; A. Naregal; S. Ramesh; P. Muthal

1996-01-01

125

Melkersson-rosenthal syndrome.  

PubMed

Melkersson - Rosenthal syndrome was described by Melkersson and Rosenthal separately in the year 1928 and 1931 respectively. It is supposed to be a rare syndrome of bilateral alternating recurrent facial paralysis alongwith fissured tongue and oedema of the lips, face and eyelids. A case of Melkersson - Rosenthal syndrome is reported with all the classic findings which is a rarity. In this case there was alternating facial paralysis to begin with followed by bilateral paralysis third time, along with oedema of lips and face, fissured tongue, and dialation of sig-moid colon with absence of haustrations. PMID:23119566

Sharma, D R; Resident, S; Mohan, C; Minnas, R S; Mohindroo, N K; Sharma, M L

1999-10-01

126

Bilateral Parotid Tuberculosis  

PubMed Central

Tuberculosis of parotid is a rare clinical entity, and cases of bilateral tubercular parotitis are even rarer. We present a case of bilateral primary parotid tuberculosis in a 49-year-old female. The patient received anti-tuberculosis treatment for six months, resulting in complete resolution of the disease. We also review the theories related to the pathogenesis of tubercular parotitis, and propose a novel hypothesis about greater involvement of parotid gland as compared to other salivary glands in primary tuberculosis. PMID:21887065

Thakur, JS; Thakur, A; Mohindroo, NK; Mohindroo, S; Sharma, DR

2011-01-01

127

Bilateral parotid tuberculosis.  

PubMed

Tuberculosis of parotid is a rare clinical entity, and cases of bilateral tubercular parotitis are even rarer. We present a case of bilateral primary parotid tuberculosis in a 49-year-old female. The patient received anti-tuberculosis treatment for six months, resulting in complete resolution of the disease. We also review the theories related to the pathogenesis of tubercular parotitis, and propose a novel hypothesis about greater involvement of parotid gland as compared to other salivary glands in primary tuberculosis. PMID:21887065

Thakur, Js; Thakur, A; Mohindroo, Nk; Mohindroo, S; Sharma, Dr

2011-07-01

128

Mermaid and Potter's Syndrome Occurring Simultaneously  

Microsoft Academic Search

We herein report a case of a female embryo who died in utero and at autopsy she was found to have bilateral renal agenesis with the extrarenal manifestations of Potter's syndrome together with mermaid syndrome which is a rare combination. From all the anomalies of the upper urinary tract bilateral renal agenesis seems to have a cardinal role in the

E. N. Liatsikos; P. Perimenis; K. Dandinis; E. Kaladelfou; G. A. Barbalias

1999-01-01

129

Bilateral coronary arteriovenous fistulas  

Microsoft Academic Search

A 14-year-old girl with bilateral coronary arteriovenous fistulas (CAVFs) draining into the right ventricle (RV) is presented. Selective coronary angiography revealed involvement of both right and left coronary arteries in the fistulous formation, but communication into the RV was single.

Joseph Joy; Thomas Titus; C. G. Venkitachalam; K. G. Balakrishnan

1990-01-01

130

Bilateral pisotriquetral loose bodies  

PubMed Central

Case reports detailing diagnosis and effective treatment of pisotriquetral loose bodies are scarce. This article describes an even rarer case of bilateral pisotriquetral joint loose bodies, explores the relative diagnostic roles of magnetic resonance imaging versus computed tomography, and outlines effective strategies used for the management of this condition drawn from the literature and our own experience. PMID:22507708

Williams, GR; Holland, P; Beazley, J; Hyder, N

2012-01-01

131

Bilateral frontoparietal polymicrogyria: Clinical and radiological features in 10 families with linkage to chromosome 16  

Microsoft Academic Search

Polymicrogyria is a common malformation of cortical development characterized by an excessive number of small gyri and abnormal cortical lamination. Multiple syndromes of region-specific bilateral symmetric polymicrogyria have been reported. We previously have described two families with bilateral frontoparietal polymicrogyria (BFPP), an autosomal recessive syndrome that we mapped to a locus on chromosome 16q12-21. Here, we extend our observations to

Bernard S. Chang; Xianhua Piao; Adria Bodell; Lina Basel-Vanagaite; Rachel Straussberg; William B. Dobyns; Bassam Qasrawi; Robin M. Winter; A. Micheil Innes; Thomas Voit; P. Ellen Grant; A. James Barkovich; Christopher A. Walsh

2003-01-01

132

Bilateral Pseudoexfoliation Deposits on Intraocular Lens Implants  

PubMed Central

We present a rare case of bilateral pseudoexfoliative deposits on both intraocular lens (IOL) implants in an 83-year-old woman with no other associated pathology, 5 years after cataract surgery. Pseudoexfoliation syndrome is the most common cause of secondary open-angle glaucoma worldwide and these deposits are usually found on the natural lens. The fact that pseudoexfoliative deposits have been found on IOL implants implies the need for a thorough examination in pseudophakic patients, for it could be the only sign of secondary glaucoma. PMID:25713742

Bonafonte Marquez, Elena; Bonafonte Royo, Sergio

2015-01-01

133

Rotational vertebral artery syndrome  

Microsoft Academic Search

Whether the rotational vertebral artery syndrome (RVAS), consisting of attacks of vertigo, nystagmus and tinnitus elicited\\u000a by head-rotation induced compression of the dominant vertebral artery (VA), reflects ischemic dysfunction of uni- or bilateral\\u000a peripheral or central vestibular structures, is still debated. We report on a patient with bilateral high-grade carotid stenoses,\\u000a in whom rightward headrotation led to RVAS symptoms including

Sarah Marti; Stefan Hegemann; Hans-Christian von Büdingen; Ralf W. Baumgartner; Dominik Straumann

2008-01-01

134

A 52-Year-Old Male with Bilaterally Duplicated Collecting Systems with Obstructing Ureteral Stones: A Case Report  

PubMed Central

Collecting system duplication is marked by a variety of clinical syndromes. Bilateral and obstructed duplicated systems, particularly with asymmetric levels of duplication, are rare and typically due to ureteric bud development anomalies. The infrequency with which this condition exists makes it a formidable challenge for physicians and patients. To our knowledge, we present the first case report of bilateral obstruction of bilaterally duplicated collecting systems. In our case, a 52-year-old male complaining of low back pain, constipation, urinary urgency and hematuria was found to have bilateral obstructing stones as well as asymmetrical bilateral collecting system duplication. We discuss the natural history of this condition, its consequences and identification. PMID:24917767

Scantling, Dane; Ross, Curtis; Altman, Howard

2013-01-01

135

Bilateral Adrenal Incidentalomas: A Case Report and Review of Diagnostic Challenges  

PubMed Central

Incidentally discovered adrenal masses (incidentalomas) are common and present challenges both in diagnosis and management. When incidentally discovered adrenal masses are bilateral, a refined diagnostic approach is warranted since bilateral disease is more likely to be pathologic. We review a case of a 34-year-old man with incidentally discovered bilateral adrenal nodules. A comprehensive diagnostic strategy led to the diagnosis of bilateral pheochromocytoma caused by von Hippel-Lindau syndrome. He was successfully treated with bilateral laparoscopic adrenalectomy and has recovered well. While the initial diagnostic approach is similar to the unilateral incidentaloma, additional testing and/or genetic testing should be considered in the case of the bilateral adrenal mass. PMID:23401807

Carlson, Anders L.; Marney, Annis M.; Anderson, Scott R.; Gilbert, Matthew P.

2013-01-01

136

CHARGE syndrome  

PubMed Central

CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness). In 1998, an expert group defined the major (the classical 4C's: Choanal atresia, Coloboma, Characteristic ears and Cranial nerve anomalies) and minor criteria of CHARGE syndrome. Individuals with all four major characteristics or three major and three minor characteristics are highly likely to have CHARGE syndrome. However, there have been individuals genetically identified with CHARGE syndrome without the classical choanal atresia and coloboma. The reported incidence of CHARGE syndrome ranges from 0.1–1.2/10,000 and depends on professional recognition. Coloboma mainly affects the retina. Major and minor congenital heart defects (the commonest cyanotic heart defect is tetralogy of Fallot) occur in 75–80% of patients. Choanal atresia may be membranous or bony; bilateral or unilateral. Mental retardation is variable with intelligence quotients (IQ) ranging from normal to profound retardation. Under-development of the external genitalia is a common finding in males but it is less apparent in females. Ear abnormalities include a classical finding of unusually shaped ears and hearing loss (conductive and/or nerve deafness that ranges from mild to severe deafness). Multiple cranial nerve dysfunctions are common. A behavioral phenotype for CHARGE syndrome is emerging. Mutations in the CHD7 gene (member of the chromodomain helicase DNA protein family) are detected in over 75% of patients with CHARGE syndrome. Children with CHARGE syndrome require intensive medical management as well as numerous surgical interventions. They also need multidisciplinary follow up. Some of the hidden issues of CHARGE syndrome are often forgotten, one being the feeding adaptation of these children, which needs an early aggressive approach from a feeding team. As the child develops, challenging behaviors become more common and require adaptation of educational and therapeutic services, including behavioral and pharmacological interventions. PMID:16959034

Blake, Kim D; Prasad, Chitra

2006-01-01

137

A 12-year-old african american girl with subacute bilateral ophthalmoplegia.  

PubMed

A twelve-year-old African-American female presented with two week history of progressively worsening headache and fatigue, and vision difficulties for the past week. The physical examination was normal. The neurological evaluation was normal, except for cranial nerves (CN) testing, which showed bilateral restriction of adduction (CN III) and up gaze (CN IV) motions, vertical nystagmus, and left side facial paresis of central origin (CN VII). The bilateral exotropia and ophthalmoplegia are characteristics of WEBINO (Wall-Eyed Bilateral Intranuclear Ophthalmoplegia) syndrome, associated to a brain stem structural lesion. The following causes were evaluated and ruled out: tumor, infection, ischemic stroke, non-infectious inflammation. Pediatric Acquired Demyelinating Syndromes were then considered. Neuromyelitis Optica was ruled out in the absence of neuritis and normal spinal cord MRI. The differential diagnosis between Clinically Isolated Syndrome and Acute Demyelinating Encephalomyelitis, causing an isolated brain stem syndrome, is discussed. PMID:25149958

Bar, Amir; Urbine, Jacqueline; Bahora, Yasmine; Berkenstock, Meghan; Vodzak, Jennifer; Guruprasad, Hamalatha; Sinha, Manisha; Abed, Thair; Legido, Agustín

2014-06-01

138

Thoracic Outlet Syndrome Following Breast Implant Rupture  

PubMed Central

Summary: We present a patient with bilateral breast implant rupture who developed severe locoregional silicone granulomatous lymphadenopathy. Poly Implant Prothese silicone implants had been used for bilateral breast augmentation 5 years prior. Extracapsular implant rupture and bilateral axillary lymphadenopathy indicated explantation, capsulectomy, and selective lymph node excision. Histology demonstrated silicone lymphadenopathy with no evidence of malignancy. Over the subsequent 12 months, she developed progressive locoregional lymphadenopathy involving bilateral cervical, axillary, and internal mammary groups, resulting in bilateral thoracic outlet syndrome. We report the unusual presentation, progression, and the ultimate surgical management of this patient. PMID:25878942

Caplash, Yugesh; Giri, Pratyush; Kearney, Daniel; Wagstaff, Marcus

2015-01-01

139

Glycopyrrolate induced bilateral angle closure glaucoma after cervical spine surgery.  

PubMed

To report a case of bilateral acute angle closure glaucoma (AACG) that occurred after cervical spine surgery with the use of glycopyrolate. A 59-year-old male who presented with severe bilateral bifrontal headache and eye pain that started 12 h postextubation from a cervical spine surgery. Neostigmine 0.05 mg/kg (4.5 mg) and glycopyrrolate 0.01 mg/kg (0.9 mg) were used as muscle relaxant reversals at the end of the surgery. Ophthalmic examination revealed he had bilateral AACG with plateau iris syndrome that was treated medically along with laser iridotomies. Thorough examination of anterior chamber should be performed preoperatively on all patients undergoing surgeries in the prone position and receiving mydriatic agents under general anesthesia. PMID:23741140

Jaroudi, Mahmoud; Fadi, Maalouf; Farah, Fadi; El Mollayess, Georges M

2013-01-01

140

Idiopathic Bilateral Bloody Tearing  

PubMed Central

Bloody tear is a rare and distinct clinic phenomenon. We report a case presenting with the complaint of recurrent episodes of bilateral bloody tearing. A 16-year-old girl presented to our clinic with complaint of bloody tearing in both eyes for 3 months. Bloody tearing was not associated with her menses. A blood-stained discharge from the punctum was not observed during the compression of both nasolacrimal ducts. Nasolacrimal passage was not obstructed. Imaging studies such as dacryocystography and gradient-echo magnetic resonance imaging (MRI) of nasolacrimal canal were normal. Intranasal endoscopic evaluation was normal. We collected samples from bloody tears two times and pathological examination was performed. Pathological analysis showed lots of squamous cells and no endometrial cells; dysplastic cells were found. Further evaluations for underlying causes were unremarkable. No abnormalities were found in ophthalmologic, radiologic, and pathologic investigations. This condition is likely a rare abnormality and the least recognized aetiology for the idiopathic phenomenon. PMID:25685572

Beyazy?ld?z, Emrullah; Özdamar, Yasemin; Beyazy?ld?z, Özlem; Yerli, Hasan

2015-01-01

141

Idiopathic bilateral lipid keratopathy.  

PubMed Central

A 52-year-old Mexican man presented with asymptomatic, bilaterally symmetrical lipid infiltrates of the cornea and adjacent limbus. No evidence of previous ocular disease or systemic disorder of lipid metabolism could be detected. Penetrating keratoplasty of the right eye was required. The cornea was rigid and thick, with posterior bulging into the anterior chamber. Light microscopy revealed deep corneal lipid granules, foamy histiocytes, vascularisation, and chronic non-granulomatous inflammation. Transmission electron microscopy showed extracellular lipid spaces and numerous intracytoplasmic lipid vacuoles in histiocytes, keratocytes, conjunctival epithelium, and the endothelium of blood vessels in the corneal stroma and adjacent limbal conjunctiva. Histochemical analysis revealed the presence of neutral fats, free fatty acids, cholesterol, and phospholipids. Images PMID:3395592

Alfonso, E.; Arrellanes, L.; Boruchoff, S. A.; Ormerod, L. D.; Albert, D. M.

1988-01-01

142

Bilateral cochlear implantation—9-year results  

Microsoft Academic Search

The topic about the patients benefit of bilateral cochlear implantation still causes a controversial discussion. We report about our experience of bilateral cochlear implantation and the importance of bilateral cochlear implantation in meningitis deafened patients.

W. D. Baumgartner; A. Jappel; K. Frei; M. Stach; J. Eckl-Dorna; J. Hamzavi

2004-01-01

143

Association of Cryptogenic Organizing Pneumonia in Bilateral Anterior Uveitis  

PubMed Central

Two female patients with histories of cancer who showed cryptogenic organizing pneumonia (COP) complications and bilateral anterior uveitis with hypopyon were examined. Both patients had suffered from COP and received intermitted systemic corticosteroid administration (SCA). The first patient, a 65-year-old woman with a history of breast cancer, showed bilateral uveitis with hypopyon. The topical corticosteroid treatment was ineffective. After SCA for the treatment of COP was started, the hypopyon gradually dissipated. Upon termination of SCA, uveitis relapses were controlled by renewed SCA. The other patient, a 69-year-old woman with a history of ovarian cancer, showed bilateral anterior uveitis with hypopyon. Her intraocular outcome did not improve by the topical corticosteroid administration, but SCA that was applied to treat COP led to remission of uveitis. Imaging examinations, biochemical analysis, symptoms or HLA-B27 antigen screenings in either patient did not explain the development of uveitis. Bilateral anterior uveitis is commonly related to autoimmune disease or systemic syndrome. We report two cases with COP that developed bilateral anterior uveitis with hypopyon resistant to topical administration but responsive to systemic administration of corticosteroid. These findings suggest that COP can be associated with the etiology of anterior uveitis. PMID:25520652

Fujimoto, Kaori; Hiraoka, Miki; Inatomi, Shuichiro; Ohguro, Hiroshi

2014-01-01

144

BILATERAL WASTEWATER LAND TREATMENT RESEARCH  

EPA Science Inventory

Diplomatic relations between the United States and China, established in 1979, opened the door for development of 1985 bilateral environmental research and technology transfer between the USEPA's Robert S. Kerr Environmental Research Laboratory, Ada, Oklahoma, and China's Beijing...

145

Bilateral internal laryngoceles mimicking asthma.  

PubMed

Laryngocele is an air-filled, abnormal dilation of the laryngeal saccule that extends upward within the false vocal fold, in communication with the laryngeal lumen. A case of 43-year-old male with bilateral internal laryngoceles, who has been treated as asthma for 4 years, is presented. The patient had dyspnea, cough, and excessive phlegm for a month and a late onset stridor. Flexible nasopharyngolaryngoscopy showed bilateral cystic enlargements of the false vocal folds and true vocal folds could not be visualized. Laryngeal CT without contrast enhancement showed bilateral internal laryngoceles. Submucosal total excision of bilateral cystic masses including parts of false vocal folds was performed. The symptoms resolved immediately after surgery. Although the incidence of internal laryngocele is rare, it should be remembered in the differential diagnosis of upper airway problems and diagnostic flexible nasopharnygolaryngoscopy is routinely indicated for airway evaluation in at-risk patients. PMID:24174956

Aksoy, Elif A; Elsürer, Ca?da?; Serin, Gediz M; Unal, O Faruk

2013-05-01

146

Bilateral synchronous male breast cancer  

PubMed Central

Bilateral synchronous breast cancer is extremely rare. A 75-year-old man presented with a right breast mass, which ulcerated and a lump in the left breast. Right breast examination revealed a breast ulcer 7×10cm with everted edges and complete nipple destruction. The left breast showed a hard lump measuring 4×5cm in the nipple-areolar area, unattached to skin, or underlying structure. There was no palpable axillary lymph node bilaterally. A wedge biopsy of right breast ulcer and excision of the left breast lump confirmed bilateral invasive ductal carcinoma - Grade 2 tumor in both breasts. He had bilateral simple mastectomy and chemotherapy; defaulted for 18 months during treatment, and re-presented with bilateral tumor recurrence. The importance of this case report is to create more awareness that breast cancer can occur in males just as in females, though the incidence is rare in males. Early presentation and compliance with treatment modality provide a better outcome. PMID:25737181

Nwashilli, Nnamdi J.; Ugiagbe, Ezekiel E.

2015-01-01

147

Bilateral Multiple Level Lateral Meningocoele  

PubMed Central

Lateral meningocoele is a very rare disorder characterized by extensions of the dura and arachnoid through an enlarged neural foramen. We report a case of a 23-year-old female with deformity of spine who presented with low back pain and no neurological deficits. A whole spine magnetic resonance imaging showed multiple well-defined cystic masses involving dorsal, lumbar, and sacral spinal levels bilaterally, with dural ectasia and neural foraminal widening suggestive of bilateral multiple level lateral meningocoele. The patient is being managed conservatively and is on regular follow-up. PMID:23607071

Kumar, B. E. Panil; Hegde, Kishor V.; Kumari, G. Lalitha; Agrawal, Amit

2013-01-01

148

[Bilateral nodular hyperplasia of the adrenal glands; diagnostic problems].  

PubMed

Bilateral adrenal nodular hyperplasia (BAND) is rarely presented as a cause of Cushing Syndrome. The pathogenicity of the disease is unknown and it does not present either symptoms or specific signs, furthermore, its steroid dynamic is atypical and the morphologic tests are not conclusive. The clinical stories of six BAND-diagnosed patients in our Department have been reviewed with the aim of unifying the criteria of the preoperative diagnosis with regard to treatment, comparing our results with literature's wider series. The results from both studies demonstrate an hypophyseal dependence together with some others showing a adrenal autonomy. Thus, our conclusions perpetuate the pathogenic question about BAND (whether is an adrenal primary disfunction or a secondary effect caused by hypophyseal ACTH hypersecretion?) and we point out the usefulness of radioisotopic gammagraphy and abdominal-TAC, since usually they show the bilaterality of the injury at adrenal level. PMID:2203116

Vaquero, P M; de la Morena, L H; Gamboa, R A; Pallardo, L F; Corchado, M S; San Martín, L; Cano, R L; Mejía, A

1990-04-01

149

Nontraumatic fat embolism syndrome in sickle cell anemia  

Microsoft Academic Search

A 14-year-old girl with sickle cell disease and nephrotic syndrome developed bone pain, followed by pulmonary edema, seizures, coma, and bilateral flaccid paralysis. Fat embolism syndrome was diagnosed by cranial magnetic resonance imaging and an exchange transfusion was performed. Within 3 months, all symptoms had resolved. It is concluded that fat embolism syndrome must be considered as a possible cause

Darlene P. Horton; Donna M. Ferriero; William C. Mentzer

1995-01-01

150

Telepresence index for bilateral teleoperations.  

PubMed

This paper proposes a performance index called telepresence index for bilateral teleoperation, which can be used both for the performance evaluation of bilateral control architectures and for design purposes. This index is intended to represent a comprehensive performance objective consisting of transparency and kinematic correspondence, which are two major performance objectives of bilateral teleoperation. In order to quantify the performance objective, telepresence index has employed the error vector magnitude, which enables a seamless combination of magnitude and phase errors and the accommodation of time delay. In comparison with existing performance indices, it was observed that telepresence index possesses the comprehensiveness of performance objectives, magnitude/phase integrity, and the capacity to include time delay, which the others lack in one way or another. The index was applied to evaluate the performances of two widely known control architectures: PD-type bilateral control and Ueda's ideal control. In all cases, telepresence index has been compared favorably with the other indices in terms of clarity, convenience, and accuracy, thereby demonstrating its superiority. PMID:21824852

Chang, Pyung Hun; Kim, Jonghyun

2012-02-01

151

Bilateral and symmetrical tinea mammae.  

PubMed

Tinea corporis has rarely been reported in some locations such as on the breast skin as unilaterally. Herein, we present a case of bilateral tinea mammae, which has not been reported before in English language literature to our knowledge. PMID:24050298

Yilmaz, Murat; Kavak, Ayse; Yamaner, Nalan Jale

2013-09-01

152

Prenatal diagnosis of Bruck syndrome.  

PubMed

Bruck syndrome is an autosomal recessive connective tissue disorder combining features of osteogenesis imperfecta and arthrogryposis multiplex congenita. There are only few reports describing this rare syndrome of multiple fractures and joint contractures that is thought to be a subtype of osteogenesis imperfecta. We report the first case of prenatal diagnosis of this syndrome in a fetus at 23 weeks of gestation. Ultrasound findings included brachycephaly, retrognathia marked shortening and bowing of both femurs, bilateral fixed flexion of the elbows, bilateral fixed extension of the wrists and partially fixed flexion of the knees. The parents opted for termination of pregnancy. Macroscopic and radiologic examination of the aborted fetus confirmed the prenatal diagnosis, whereas morphological studies of the bone tissue found no hard evidence of osteogenesis imperfecta, probably due to the early stage of pregnancy and the heterogeneity of the syndrome itself. PMID:16034828

Berg, C; Geipel, A; Noack, F; Smrcek, J; Krapp, M; Germer, U; Bender, G; Gembruch, U

2005-07-01

153

Note: Unshielded bilateral magnetoencephalography system using two-dimensional gradiometers  

NASA Astrophysics Data System (ADS)

Magnetoencephalography (MEG) noninvasively measures neuronal activity with high temporal resolution. The aim of this study was to develop a new type of MEG system that can measure bilateral MEG waveforms without a magnetically shielded room, which is an obstacle to reducing both the cost and size of an MEG system. An unshielded bilateral MEG system was developed using four two-dimensional (2D) gradiometers and two symmetric cryostats. The 2D gradiometer, which is based on a low-Tc superconducting quantum interference device and wire-wound pickup coil detects a magnetic-field gradient in two orthogonal directions, or ?/?x(?2Bz/?z2), and reduces environmental magnetic-field noise by more than 50 dB. The cryostats can be symmetrically positioned in three directions: vertical, horizontal, and rotational. This makes it possible to detect bilateral neuronal activity in the cerebral cortex simultaneously. Bilateral auditory-evoked fields (AEF) of 18 elderly subjects were measured in an unshielded hospital environment using the MEG system. As a result, both the ipsilateral and the contralateral AEF component N100m, which is the magnetic counterpart of electric N100 in electroencephalography and appears about 100 ms after the onset of an auditory stimulus, were successfully detected for all the subjects. Moreover, the ipsilateral P50m and the contralateral P50m were also detected for 12 (67%) and 16 (89%) subjects, respectively. Experimental results demonstrate that the unshielded bilateral MEG system can detect MEG waveforms, which are associated with brain dysfunction such as epilepsy, Alzheimer's disease, and Down syndrome.

Seki, Yusuke; Kandori, Akihiko; Ogata, Kuniomi; Miyashita, Tsuyoshi; Kumagai, Yukio; Ohnuma, Mitsuru; Konaka, Kuni; Naritomi, Hiroaki

2010-09-01

154

Foix-Chavany-Marie syndrome in a 17-year-old female with congenital cytomegalovirus infection.  

PubMed

Foix-Chavany-Marie syndrome is characterized by bilateral facio-glosso-pharyngo-masticatory paralysis of voluntary movement due to bilateral anterior opercular lesions. We describe the case of a 17-year-old female affected by Foix-Chavany-Marie syndrome and congenital cytomegalovirus infection, evaluating the possible etiopathogenetic correlation between cerebral cortical dysplasia and intrauterine infections. PMID:25429223

Conforti, Renata; Capasso, Raffaella; Capaldo, Guglielmo; Dato, Clemente; Saracino, Dario; Di Iorio, Giuseppe; Melone, Mariarosa A

2014-01-01

155

Foix-Chavany-Marie syndrome in a 17-year-old female with congenital cytomegalovirus infection  

PubMed Central

Foix-Chavany-Marie syndrome is characterized by bilateral facio-glosso-pharyngo-masticatory paralysis of voluntary movement due to bilateral anterior opercular lesions. We describe the case of a 17-year-old female affected by Foix-Chavany-Marie syndrome and congenital cytomegalovirus infection, evaluating the possible etiopathogenetic correlation between cerebral cortical dysplasia and intrauterine infections. PMID:25429223

Conforti, Renata; Capasso, Raffaella; Capaldo, Guglielmo; Dato, Clemente; Saracino, Dario; Di Iorio, Giuseppe; Melone, Mariarosa A

2014-01-01

156

Bilateral retrocaval ureters with IVC duplication  

Microsoft Academic Search

We report a rare case of bilateral retrocaval ureters associated with duplicated inferior renal cava. A 69-year-old woman was sent to our emergency room for abdominal pain. Multidetector CT scan with multiplanar reconstruction revealed duplicated inferior renal cava and the bilateral ureters were positioned behind the duplicated inferior vena cava. To our knowledge, coexistence of bilateral retrocaval ureters and duplicated

Chen-Te Chou; Albert D. Yang; Yu-Cheng Hong; Hwa-Koon Wu

157

Laparoscopic Cortical Sparing Adrenalectomy for Pediatric Bilateral Pheochromocytoma: Anesthetic Management  

PubMed Central

Introduction: Pheochromocytoma is a catecholamine-secreting tumor, which is seen rarely in children. These tumors predominantly secrete norepinephrine and epinephrine. They might be familial and associated with hereditary tumors such as Von Hippel-Lindau syndrome and multiple endocrine neoplasia type II. Case Presentation: The child might present with a spectrum of clinical manifestation including hypertension, headache, visual disturbances, and behavioral problems. A meticulous preoperative preparation is essential for a stable intraoperative and postoperative outcome Conclusions: We described successful perioperative management of a child who underwent bilateral laparoscopic cortical sparing adrenalectomy and a repeated surgery for the residual tumor removal. PMID:24790902

Rajappa, Geetha Chamanhalli; Anandaswamy, Tejesh Channasandra

2014-01-01

158

Saethre-Chotzen Syndrome Presenting with Incomplete Renal Fanconi Syndrome  

Microsoft Academic Search

Here we report on a patient with findings of acrocephaly, craniosynostosis, low frontal hairline, ptosis of eyelids, deviated nasal septum, broad great toes, moderate hallux valgus, bilateral symmetrical complete soft tissue syndactyly of toes 2 and 3, and partial soft tissue syndactyly of toes 4 and 5 consistent with the diagnosis of Saethre-Chotzen syndrome. Additionally, the patient had some unusual

Cagatay Oktenli; Mutlu Saglam; Emre Zafer; Davut Gül

2002-01-01

159

Novel neuropathologic findings in the Haddad syndrome  

Microsoft Academic Search

Haddad syndrome (congenital central hypoventilation syndrome and Hirschsprung’s disease) is a rare disorder for which in-depth\\u000a neuropathologic analysis is lacking. We report the brain findings in a full-term male infant with Haddad syndrome who died\\u000a at 27 days of life. Bilateral hypoplasia of the superior temporal lobe and gyral anomalies in the frontal cortex were present.\\u000a Immunohistochemistry with an antibody to

Nestor D. Tomycz; Robin L. Haynes; Edith F. Schmidt; Kate Ackerson; Hannah C. Kinney

2010-01-01

160

Bilateral cervical ribs in a Dobermann Pinscher.  

PubMed

An 11-year-old intact female Doberman Pinscher was presented with the complaint of non-ambulatory tetraparesis. Clinical and neurological examination revealed a caudal cervical spinal cord disfunction (C6-T2 spinal cord segments). Magnetic resonance imaging and computed tomographic (CT) findings of the cervical spine were consistent with caudal cervical spondylomyelopathy (CSM). During the diagnostic work-up for the cervical spine, bilateral bone anomalies involving the seventh cervical vertebra and the first ribs were found on radiographs and CT examination. The rib anomalies found in this dog appear similar to cervical ribs widely described in human medicine. In people, cervical ribs are associated with a high rate of stillbirth, early childhood cancer, and can cause the thoracic outlet syndrome, characterized by neurovascular compression at level of superior aperture of the chest. In dogs, only some sporadic anatomopathological descriptions of cervical ribs exist. In this report the radiographic and CT findings of these particular vertebral and rib anomalies along with their relationships with adjacent vasculature and musculature are shown intravitam in a dog. Specific radiographic and CT findings described in this report may help in reaching a presumptive diagnosis of this anomaly. Finally, their clinical and evolutionary significance are discussed. PMID:25650786

Ricciardi, M; De Simone, A; Gernone, F; Giannuzzi, P

2015-03-17

161

Bilateral ectopic pregnancy following ICSI.  

PubMed

Bilateral tubal ectopic pregnancy is a rare clinical condition with an estimated prevalence of 1/200,000 spontaneous pregnancies. There is paucity of data on the prevalence of this rare condition following intracytoplasmic sperm injection and embryo transfer (ICSI-ET) cycles. We report two patients with bilateral tubal ectopic pregnancy following ICSI-ET. Both patients had normal, reassuring ?-human chorionic gonadotropin dynamics during follow-up; the diagnosis was performed when no gestational sac was noted at the first planned antenatal visit. Of the two patients, one was treated medically and the other surgically with laparoscopic salpingotomy and salpingectomy for the right and left sides, respectively. Both patients thereafter conceived and delivered healthy infants following subsequent ICSI-ET attempts. PMID:24969072

Polat, Mehtap; Boynukal?n, Fazilet Kübra; Yaral?, ?rem; Yaral?, Hakan

2014-01-01

162

Tumors of bilateral streak gonads in patients with disorders of sex development containing y chromosome material.  

PubMed

The presence of Y chromosome material in patients with disorders of sex development (DSD) has been associated with a high risk of gonadoblastoma. Therefore, gonadectomy is recommended in females with bilateral streak gonads and Y chromosome material. The aim of this study was to present our experience with prophylactic gonadectomy in those patients and evaluate their risk of gonadal tumors. We reviewed the charts of 11 female patients who had bilateral gonadectomy (by laparoscopically in 9 patients, by laparotomy in 2 patients) between 1991 and 2012 at our hospital. Seven patients with Turner syndrome (TS) who carry a Y mosaic karyotype in peripheral blood, 3 patients with Swyer syndrome and one patient with Frasier syndrome were included. All patients had an unambiguous female phenotype. Age at surgery and follow-up ranged from 2 to 23 (mean 11) and 0.5 to 20 (mean 8) yr, respectively. Pathologic examination revealed gonadal tumors in 6 of 11 patients (56%), including 4 with TS, the youngest of which was 2 yr old, one with Swyer syndrome and one with Frasier syndrome. A gonadoblastoma was detected in 8 gonads, and an association of dysgerminoma with gonadoblastoma was detected in 2 gonads. Imaging studies showed no metastasis, and the postoperative course was uneventful in all patients. In our series of DSD patients with bilateral streak gonads and Y chromosome material, the risk of gonadal tumor was high. Considering the early occurrence of gonadoblastoma and its high potential for malignant transformation, early prophylactic gonadectomy is strongly recommended. PMID:25110393

Matsumoto, Fumi; Shimada, Kenji; Ida, Shinobu

2014-07-01

163

Tumors of Bilateral Streak Gonads in Patients with Disorders of Sex Development Containing Y Chromosome Material  

PubMed Central

Abstract The presence of Y chromosome material in patients with disorders of sex development (DSD) has been associated with a high risk of gonadoblastoma. Therefore, gonadectomy is recommended in females with bilateral streak gonads and Y chromosome material. The aim of this study was to present our experience with prophylactic gonadectomy in those patients and evaluate their risk of gonadal tumors. We reviewed the charts of 11 female patients who had bilateral gonadectomy (by laparoscopically in 9 patients, by laparotomy in 2 patients) between 1991 and 2012 at our hospital. Seven patients with Turner syndrome (TS) who carry a Y mosaic karyotype in peripheral blood, 3 patients with Swyer syndrome and one patient with Frasier syndrome were included. All patients had an unambiguous female phenotype. Age at surgery and follow-up ranged from 2 to 23 (mean 11) and 0.5 to 20 (mean 8) yr, respectively. Pathologic examination revealed gonadal tumors in 6 of 11 patients (56%), including 4 with TS, the youngest of which was 2 yr old, one with Swyer syndrome and one with Frasier syndrome. A gonadoblastoma was detected in 8 gonads, and an association of dysgerminoma with gonadoblastoma was detected in 2 gonads. Imaging studies showed no metastasis, and the postoperative course was uneventful in all patients. In our series of DSD patients with bilateral streak gonads and Y chromosome material, the risk of gonadal tumor was high. Considering the early occurrence of gonadoblastoma and its high potential for malignant transformation, early prophylactic gonadectomy is strongly recommended. PMID:25110393

Matsumoto, Fumi; Shimada, Kenji; Ida, Shinobu

2014-01-01

164

Prostatic carcinoma bilateral iris metastases  

PubMed Central

We described a patient with bilateral iris metastases resulted from prostatic cancer. Slit lamp and ultrasonography examination of the both eye demonstrated tumor of the iris, as an amelanotic vascular mass located on the superior temporal quadrant. On open biopsy revealed undifferentiated tissue that stained strongly positive for prostate carcinoma, confirming the diagnosis of metastasis prostate adenocarcinoma. Early diagnostic procedures are essential for the causal therapy of prostate carcinoma as the primary neoplasm. PMID:22642599

Sarenac, Tatjana S.; Janicijevic-Petrovic, Mirjana A.; Sreckovic, Suncica B.; Radovanovic, Milan R.; Vulovic, Dejan D.; Janicijevic, Katarina M.

2012-01-01

165

Bilateral intra parotid tubercular lymphadenitis.  

PubMed

Tubercular parotitis is an extremely rare clinical condition which is difficult to diagnose. The rarity of this condition can be seen from the evidence of only a few reported cases in the litera-ture. Tubercular infection is quiet common in this part of the world, but Tubercular Parotitis is still a rarity. A case of Bilateral tubercular parotitis diagnosed by FNAC, showing tubercular involvement of the intra parotid lymph node is presented due to its rarity. PMID:23119565

Sharma, D R; Resident, S R; Mohan, C; Mohindroo, N K; Sharma, M L

1999-10-01

166

Compensation Following Bilateral Vestibular Damage  

PubMed Central

Bilateral loss of vestibular inputs affects far fewer patients than unilateral inner ear damage, and thus has been understudied. In both animal subjects and human patients, bilateral vestibular hypofunction (BVH) produces a variety of clinical problems, including impaired balance control, inability to maintain stable blood pressure during postural changes, difficulty in visual targeting of images, and disturbances in spatial memory and navigational performance. Experiments in animals have shown that non-labyrinthine inputs to the vestibular nuclei are rapidly amplified following the onset of BVH, which may explain the recovery of postural stability and orthostatic tolerance that occurs within 10?days. However, the loss of the vestibulo-ocular reflex and degraded spatial cognition appear to be permanent in animals with BVH. Current concepts of the compensatory mechanisms in humans with BVH are largely inferential, as there is a lack of data from patients early in the disease process. Translation of animal studies of compensation for BVH into therapeutic strategies and subsequent application in the clinic is the most likely route to improve treatment. In addition to physical therapy, two types of prosthetic devices have been proposed to treat individuals with bilateral loss of vestibular inputs: those that provide tactile stimulation to indicate body position in space, and those that deliver electrical stimuli to branches of the vestibular nerve in accordance with head movements. The relative efficacy of these two treatment paradigms, and whether they can be combined to facilitate recovery, is yet to be ascertained. PMID:22207864

McCall, Andrew A.; Yates, Bill J.

2011-01-01

167

Spontaneous bilateral fracture of patella.  

PubMed

Bilateral patellae fractures represent a rare entity, accounting for approximately 2.9% of all lesions interesting in this anatomical district. In most cases found in the published work, they are described as stress fractures or as complications of chronic diseases such as osteoporosis, renal failure and secondary hyperparathyroidism. Although many pathogenetic mechanisms have been supposed, none have been proved for certain. Insufficiency fractures of the patellae are rare events and no data has been published on their incidence. We present a case of bilateral fracture of the patellae due to an indirect trauma occurring in an 85-year-old patient affected by Parkinson's disease, osteoporosis and diffuse degenerative osteoarthritis. X-ray of the knees (anteroposterior and lateral) and magnetic resonance imaging evaluation confirmed the fractures. The patient was treated conservatively. She had a good result, returning to her previous autonomous ambulation. This case is unusual because there was no direct trauma to the knees because of bilaterality, but confirmed previous observations about insufficiency fractures of patellae in the presence of comorbidity. Insufficiency fractures of patellae can be an insidious condition in elderly people. Prepatellar pain, a common symptom in the relapse phase of degenerative arthritis of the knee, should not be underestimated, particularly in patients with diseases influencing metabolism of bone and with an elevated risk of fall. A periodical clinical and instrumental follow up should be done in these patient. Moreover, we underline the necessity of a multidisciplinary approach. PMID:18713190

Moretti, Biagio; Speciale, Domenico; Garofalo, Raffaele; Moretti, Lorenzo; Patella, Silvio; Patella, Vittorio

2008-03-01

168

Giant Bilateral Adrenal Myelolipoma with Congenital Adrenal Hyperplasia  

PubMed Central

Myelolipomas are rare and benign neoplasms, predominant of the adrenal glands, consisting of adipose and mature hematopoietic tissue, commonly discovered incidentally with increased use of radiologic imaging. Few cases of giant bilateral adrenal masses are reported, especially in the setting of congenital adrenal hyperplasia (CAH). We report the case of a 39-year-old male with a history of CAH secondary to 21-? hydroxylase deficiency on steroids since childhood, self-discontinued during adolescence, presenting with abdominal distension, fatigue, decreased libido, and easy bruising. Imaging revealed giant bilateral adrenal masses. He subsequently underwent bilateral adrenalectomy found to be myelolipomas measuring 30 × 25 × 20?cm on the left and weighing 4.1?kg and 25 × 20 × 13?cm on the right and weighing 2.7?kg. Adrenal myelolipomas are found to coexist with many other conditions such as Cushing's syndrome, Addison's disease, and CAH. We discuss the association with high adrenocorticotropic hormone (ACTH) states and review the studies involving ACTH as proponent leading to myelolipomas. Massive growth of these tumors, as in our case, can produce compression and hemorrhagic symptoms. We believe it is possible that self-discontinuation of steroids, in the setting of CAH, may have resulted in the growth of his adrenal masses. PMID:25140269

Al-Bahri, S.; Tariq, A.; Lowentritt, B.; Nasrallah, D. V.

2014-01-01

169

Giant bilateral adrenal myelolipoma with congenital adrenal hyperplasia.  

PubMed

Myelolipomas are rare and benign neoplasms, predominant of the adrenal glands, consisting of adipose and mature hematopoietic tissue, commonly discovered incidentally with increased use of radiologic imaging. Few cases of giant bilateral adrenal masses are reported, especially in the setting of congenital adrenal hyperplasia (CAH). We report the case of a 39-year-old male with a history of CAH secondary to 21-? hydroxylase deficiency on steroids since childhood, self-discontinued during adolescence, presenting with abdominal distension, fatigue, decreased libido, and easy bruising. Imaging revealed giant bilateral adrenal masses. He subsequently underwent bilateral adrenalectomy found to be myelolipomas measuring 30 × 25 × 20?cm on the left and weighing 4.1?kg and 25 × 20 × 13?cm on the right and weighing 2.7?kg. Adrenal myelolipomas are found to coexist with many other conditions such as Cushing's syndrome, Addison's disease, and CAH. We discuss the association with high adrenocorticotropic hormone (ACTH) states and review the studies involving ACTH as proponent leading to myelolipomas. Massive growth of these tumors, as in our case, can produce compression and hemorrhagic symptoms. We believe it is possible that self-discontinuation of steroids, in the setting of CAH, may have resulted in the growth of his adrenal masses. PMID:25140269

Al-Bahri, S; Tariq, A; Lowentritt, B; Nasrallah, D V

2014-01-01

170

Meckel syndrome.  

PubMed Central

Meckel syndrome (MKS) is a lethal syndrome with a central nervous system malformation, usually occipital meningoencephalocele, bilaterally large multicystic kidneys with fibrotic changes of the liver, and polydactyly in most cases. Additional anomalies are frequent. A common characteristic of the parenchymal changes of many organs is a proliferation of the stromal connective tissue and increase and dilatation of the associated epithelial ducts. Autosomal recessive inheritance is well confirmed and the gene locus has been mapped to chromosome 17q21-24 by genome wide linkage study. The locus was later refined to within a less than 1 cM region (17q22), in which most of the Finnish MKS patients share a common chromosomal haplotype suggesting one major and relatively old mutation. However, in most of the non-Finnish MKS families studied, this linkage could not be confirmed. The linkage studies provide evidence that more than one locus is involved in bringing about the combination of CNS malformations, cystic kidneys, and polydactyly, maybe even in typical cases of MKS. Prenatal diagnosis of MKS by vaginal ultrasound scan is possible from 11-12 weeks of pregnancy, especially in families where there is a known risk. In those families where linkage to 17q22 is established, prenatal diagnosis by DNA analysis is possible. Images PMID:9643292

Salonen, R; Paavola, P

1998-01-01

171

An unusual presentation of Kabuki syndrome: clinical overlap with CHARGE syndrome.  

PubMed

Kabuki syndrome is a rare genetic disorder characterized by intellectual disability and multiple congenital anomalies, including short stature, peculiar facial appearance, skeletal anomalies, a variety of visceral malformations and abnormal dermatoglyphic patterns. We describe a case of Kabuki syndrome presenting with atypical features, consisting of bilateral microphthalmia, coloboma, anal atresia and panhypopituitarism, showing considerable phenotypic overlap with CHARGE syndrome. This report demonstrates that clinical follow-up and molecular genetic testing can be useful for establishing the correct diagnosis. PMID:24862881

Verhagen, Judith M A; Oostdijk, Wilma; Terwisscha van Scheltinga, Cecilia E J; Schalij-Delfos, Nicoline E; van Bever, Yolande

2014-09-01

172

Asymmetric pigmentary glaucoma in a patient with Marfan’s syndrome  

Microsoft Academic Search

Background: No relation- ship between Marfan's syndrome and pigmentary glaucoma has previously been described in the ophthalmic literature. We describe the case of a patient with Marfan's syndrome who had bilateral pigment dispersion syn- drome and asymmetrical glaucoma. Methods: A 34-year-old man with Marfan's syndrome developed pig- ment dispersion bilaterally. In the right eye, elevated intra-ocular pres- sure was associated

Aoife Doyle; Pascale Hamard; Michel Puech; Yves Lachkar

2005-01-01

173

Annular and central heavy pigment deposition on the posterior lens capsule in the Pigment dispersion syndrome  

Microsoft Academic Search

Purpose To report annular and central heavy pigment deposition on the posterior lens capsule in a case of pigment dispersion syndrome.\\u000a Methods Case report. Results A 36-year-old female with bilateral pigment dispersion syndrome presented with progressive decrease in visual acuity in the\\u000a right eye over the past 1–2 years. Clinical examination revealed the typical findings of pigment dispersion syndrome including\\u000a bilateral

Burak Turgut; Peykan Türkçüo?lu; Nurettin Deniz; Onur Çatak

2008-01-01

174

Bilateral Impedance Control For Telemanipulators  

NASA Technical Reports Server (NTRS)

Telemanipulator system includes master robot manipulated by human operator, and slave robot performing tasks at remote location. Two robots electronically coupled so slave robot moves in response to commands from master robot. Teleoperation greatly enhanced if forces acting on slave robot fed back to operator, giving operator feeling he or she manipulates remote environment directly. Main advantage of bilateral impedance control: enables arbitrary specification of desired performance characteristics for telemanipulator system. Relationship between force and position modulated at both ends of system to suit requirements of task.

Moore, Christopher L.

1993-01-01

175

Bilateral retrocaval ureters with IVC duplication  

Microsoft Academic Search

We report a rare case of bilateral retrocaval ureters associated with duplicated inferior renal cava. A 69-year-old woman\\u000a was sent to our emergency room for abdominal pain. Multidetector computed tomogram with multiplanar reconstruction revealed\\u000a duplicated inferior renal cavae and the bilateral ureters were positioned behind the duplicated inferior vena cava. To our\\u000a knowledge, coexistence of bilateral retrocaval ureters and duplicated

C. T. Chou; A. D. Yang; Y. C. Hong; H. K. Wu

2006-01-01

176

Bilateral retrocaval ureters with IVC duplication.  

PubMed

We report a rare case of bilateral retrocaval ureters associated with duplicated inferior renal cava. A 69-year-old woman was sent to our emergency room for abdominal pain. Multidetector computed tomogram with multiplanar reconstruction revealed duplicated inferior renal cavae and the bilateral ureters were positioned behind the duplicated inferior vena cava. To our knowledge, coexistence of bilateral retrocaval ureters and duplicated inferior renal cavae has not been reported in the literature. PMID:16534551

Chou, C T; Yang, A D; Hong, Y C; Wu, H K

2006-01-01

177

Bilateral Clavicle Fracture in Two Newborn Infants  

PubMed Central

Background The fracture of clavicle is the most frequently observed bone fracture as birth trauma and it is usually unilateral. It is seen following shoulder dystocia deliveries or breech presentation of macrosomic newborns. Case Presentation We report two macrosomic newborns with bilateral clavicle fracture and brachial plexus palsy due to birth trauma. Chest X-rays confirmed bilateral fracture of clavicles. Both patients were recovered without any sequel. Conclusion Bilateral clavicular fracture should be considered in any neonate with bilateral absent Moro reflexes. PMID:23056849

Kanik, Ali; Sutcuoglu, Sumer; Aydinlioglu, Halil; Erdemir, Aydin; Arun Ozer, Esra

2011-01-01

178

Sequential bilateral retinal artery occlusion  

PubMed Central

An 86 year old woman experienced a sequential bilateral loss of vision over a period of less than 24 hours. Clinical findings and complementary studies suggested a bilateral atherogenic embolic event. Initially, she presented a superior branch retinal artery occlusion in her right eye followed by a central retinal artery occlusion with cilioretinal artery sparing in her left eye. Some conservative maneuvers performed did not improve visual acuity in the left eye. Supra-aortic Doppler ultrasonography revealed mild right internal carotid artery stenosis and moderate left internal carotid artery stenosis with a small, smooth, and homogeneous plaque. The transthoracic echocardiography showed a severe calcification of the mitral valve with a mild-moderate rim of stenosis. Central retinal artery occlusion and branch retinal artery occlusion are characterized by painless monocular loss of vision. Clinical approach and management attempt to treat the acute event, find the source of the vascular occlusion, and prevent further vascular events from occurring. Giant cell arteritis is a potentially treatable cause of central retinal artery occlusion and should be excluded in every single patient over 50 years old. PMID:24748768

Padrón-Pérez, Noel; Aronés, Janny Rosario; Muñoz, Silvia; Arias-Barquet, Luis; Arruga, Jorge

2014-01-01

179

PASSIVE FEEDFORWARD APPROACH TO BILATERAL TELEOPERATED MANIPULATORS  

E-print Network

PASSIVE FEEDFORWARD APPROACH TO BILATERAL TELEOPERATED MANIPULATORS #3; Perry Y. Li + and Dongjun bilateral teleoperated manipulator system which ensures that the closed loop system is energetically passive, and that the coupling between the system and any strictly passive environment is stable. The control objective

Li, Perry Y.

180

Research Article Transitioning From Bimodal to Bilateral  

E-print Network

AJA Research Article Transitioning From Bimodal to Bilateral Cochlear Implant Listening: Speech of bilateral stimulation is becoming common for cochlear implant (CI) recipients with either (a) a CI in one differences. Key Words: cochlear implant, hearing aid, speech recognition, localization, bimodal devices

Litovsky, Ruth

181

Recursive approximation of the bilateral filter.  

PubMed

This paper presents a complete proof that the bilateral filter can be implemented recursively, as long as: 1) the spatial filter can be implemented recursively and 2) the range filter can be decomposed into a recursive product. As a result, an O(ND) solution can be obtained for bilateral filtering, where N is the image size and D is the dimensionality. PMID:25700449

Yang, Qingxiong

2015-06-01

182

Implante coclear bilateral Reporte de un caso  

Microsoft Academic Search

In the United States and Europe, several Otology groups have done bilateral cochlear implants on the past few years. The outcome of the bilateral cochlear implants, published in the literature report, advantages in those patients who improved the ability to localize sound and to reach higher levels of language discrimination, also a better understanding of speech in a noisy environment

Santiago GutiØrrez Maldonado; Javier JimØnez Duarte; Constanza Acevedo Zambrano

183

CT demonstration of bilateral adrenal hemorrhage  

SciTech Connect

Bilateral adrenal hemorrhage with subsequent adrenal insufficiency is a recognized complication of anticoagulant therapy. Because the clinical manifestations are often nonspecific, the antemortem diagnosis of adrenal hemorrhage has been a difficult clinical problem. Computed tomography (CT) provides detailed images of the adrenal glands that are not possible with conventional imaging methods. The CT findings of bilateral adrenal hemorrhage in an anticoagulated patient are reported.

Ling, D.; Korobkin, M.; Silverman, P.M.; Dunnick, N.R.

1983-08-01

184

HERITABILITY ESTIMATE FOR BILATERAL OVULATION IN HEIFERS  

Technology Transfer Automated Retrieval System (TEKTRAN)

Recent studies have reported that cows giving birth to twin calves as a result of bilateral ovulations have lower incidences of dystocia and higher calf survival than twins born from the same uterine horn. Therefore, the objective of this study was to determine if bilateral ovulation in heifers is g...

185

Non Syndromic Familial Bilateral Decidious Taurodontism – A First Case Report  

PubMed Central

Taurodontism is anatomical and morphological alteration in the shape of the tooth. In taurodontism the crowns appear larger and the roots shorter compared to the normal anatomy of the respective tooth. The incidence of taurodontism in deciduous is very low and is also not very common in permanent dentition. The endodontic treatment protocol of taurodontic tooth is challenging. Taurodontic tooth requires a very cautious approach in identifying the root canal orientation and presence of any extra or lateral canals. PMID:25654041

Panigrahi, Rajat G.; K. T., Srilatha; Bhuyan, Ruchi; Bhuyan, Sanat K.

2014-01-01

186

Bilateral cochlear implants in children R. Litovskya,*, P. Johnstonea  

E-print Network

Bilateral cochlear implants in children R. Litovskya,*, P. Johnstonea , A. Parkinsonb , R. Petersc of listening with bilateral cochlear implants (CIs) improves the ability of children to hear speech in noise reserved. Keywords: Bilateral; Cochlear; Implantation; Pediatric; Binaural; Experience 1. Introduction

Litovsky, Ruth

187

Simultaneous Bilateral Cochlear Implantation in Adults: A Multicenter Clinical Study  

E-print Network

Simultaneous Bilateral Cochlear Implantation in Adults: A Multicenter Clinical Study Ruth Litovsky- neous" bilateral cochlear implantation (both im- plants placed during a single surgical procedure sensori- neural hearing loss. Performance with the bilateral cochlear implants, using the same speech

Litovsky, Ruth

188

Electrophysiological evidence of “nerve entrapment syndromes” and subclinical peripheral neuropathy in progressive systemic sclerosis (scleroderma)  

Microsoft Academic Search

We report the electrophysiological findings and the management of 5 subjects with progressive systemic sclerosis (PSS) and clinical evidence of nerve entrapment. Three had carpal tunnel syndrome (CTS), 1 bilateral CTS and right tarsal tunnel syndrome (TTS) and 1 Guyon's canal syndrome. Only 1 patient (with CTS) showed significant clinical improvement after surgical decompression; the other 4 demonstrated a slight

Mauro Mondelli; Clara Romano; Pietro Della Porta; Alessandro Rossi

1995-01-01

189

Bilateral pheochromocytomas in a child who had hemihypertrophy and alteration in the VHL gene.  

PubMed

The association of hypertrophy with neoplasm is well-known. Pheochromocytoma is a rare neoplasm in children. Isolated hemihypertrophy and hemihypertrophy linked to other genetic disorders have rarely been associated with the development of pheochromocytoma, with only two cases reported to date. We report a novel case of a 4-year-old male with bilateral adrenal pheochromocytomas and lower extremity hemihypertrophy in the setting of von Hippel-Lindau syndrome. PMID:23327821

Amini, Zarlasht; Babovic-Vuksanovic, Dusica; Lteif, Aida

2013-01-01

190

An Unusual Case of Bilateral Maxillary and Mandibular Para Premolar: A Case Report  

PubMed Central

The presence of supernumerary teeth is not uncommon in the general population. They occur more frequently in patients with a family history of such teeth. It is rare to find multiple supernumeraries in individuals with no other associated disease or syndrome. There have been very few documented cases of bilateral maxillary and mandibular supernumeraries in the premolar region. An unusual case of a 35-year-old man with six para premolars and complete dentition is presented. PMID:24396358

Chanagay, Sunil Kumar Vishwanath; Singh, Vikram; Bantwal, Sunil Rao; Muniyappa, Manjunatha

2013-01-01

191

A Girl With Bilateral Temporomandibular Joint Pain, Generalized Arthralgias, and Inability to Walk  

Microsoft Academic Search

The authors present the case of a 6.5-year-old girl with bilateral temporomandibular joint (TMJ) pain, generalized arthralgias, inability to walk, and absence of deep tendon reflexes in the context of Guillain—Barrè syndrome. TMJ pain was the sole manifestation for 3 days, before other typical symptoms appeared, an issue that initially led to an improper diagnosis. A thorough clinical examination along

Evgenia Sklirou; Mersini Mavrikou; Konstantinos A. Voudris; Lela Stamoyannou

2010-01-01

192

Fanconi syndrome  

MedlinePLUS

De Toni-Fanconi syndrome ... Fanconi syndrome can be caused by faulty genes, or it may result later in life due to kidney damage. Sometimes the cause of Fanconi syndrome is unknown. Common causes of Fanconi syndrome in ...

193

Aicardi Syndrome  

MedlinePLUS

NINDS Aicardi Syndrome Information Page Table of Contents (click to jump to sections) What is Aicardi Syndrome? Is there any treatment? ... being done? Clinical Trials Organizations What is Aicardi Syndrome? Aicardi syndrome is a rare genetic disorder that ...

194

Isaac's Syndrome  

MedlinePLUS

NINDS Isaacs' Syndrome Information Page Synonym(s): Neuromyotonia Table of Contents (click to jump to sections) What is Isaacs' Syndrome? ... is being done? Clinical Trials Organizations What is Isaacs' Syndrome? Issacs' syndrome (also known as neuromyotonia, Isaacs- ...

195

Tourette Syndrome  

MedlinePLUS

What Is Tourette Syndrome? Tourette syndrome is a condition that affects a person's central nervous system and causes tics. Tics are ... few months or a year. Continue Who Gets Tourette Syndrome? Tourette syndrome can affect people of all ...

196

Heterochronic bilateral ectopic pregnancy after ovulation induction*  

PubMed Central

Ectopic pregnancy is identified with the widely-applied assisted reproductive technology (ART). Bilateral ectopic pregnancy is a rare form of ectopic pregnancy which is difficult to be diagnosed at the pre-operation stage. In this paper, we presented an unusual case of heterochronic bilateral ectopic pregnancy after stimulated intrauterine insemination (IUI), where there has been a delay of 22 d between the diagnoses of the two ectopic pregnancies. Literature was reviewed on the occurrence of bilateral ectopic pregnancy during the past four years in the MEDLINE database. We found 16 cases of bilateral ectopic pregnancy reported since 2008, and analyzed the characteristics of those cases of bilateral ectopic pregnancy. We emphasize that ovulation induction and other ARTs may increase the risk of bilateral ectopic pregnancy. Because of the difficulty in identification of bilateral ectopic pregnancy by ultrasonography, the clinician should be aware that the treatment of one ectopic pregnancy does not preclude the occurrence of a second ectopic pregnancy in the same patient and should pay attention to the intra-operation inspection of both side fallopian tubes in any ectopic pregnancy case. PMID:25091994

Zhu, Bo; Xu, Gu-feng; Liu, Yi-feng; Qu, Fan; Yao, Wei-miao; Zhu, Yi-min; Gao, Hui-juan; Zhang, Dan

2014-01-01

197

Sturge–Weber syndrome – A case report  

PubMed Central

Sturge–Weber syndrome (SWS), also called as encephalotrigeminal angiomatosis is an uncommon congenital neurological disorder & frequent among the neurocutaneous syndromes specifically with vascular predominance. This disorder is characterized by facial capillary malformation & other neurological condition. The oral manifestations are gingival hemangiomatosis restricting to either side in upper and lower jaw, sometimes bilateral. We report a case of SWS with oral, ocular and neurological features.

Shaikh, Shahid M.; Goswami, Mousumi; Singh, Sanjay; Singh, Darrel

2015-01-01

198

The guided bilateral filter: when the joint/cross bilateral filter becomes robust.  

PubMed

The bilateral filter and its variants, such as the joint/cross bilateral filter, are well-known edge-preserving image smoothing tools used in many applications. The reason of this success is its simple definition and the possibility of many adaptations. The bilateral filter is known to be related to robust estimation. This link is lost by the ad hoc introduction of the guide image in the joint/cross bilateral filter. We here propose a new way to derive the joint/cross bilateral filter as a particular case of a more generic filter, which we name the guided bilateral filter. This new filter is iterative, generic, inherits the robustness properties of the robust bilateral filter, and uses a guide image. The link with robust estimation allows us to relate the filter parameters with the statistics of input images. A scheme based on graduated nonconvexity is proposed, which allows converging to an interesting local minimum even when the cost function is nonconvex. With this scheme, the guided bilateral filter can handle non-Gaussian noise on the image to be filtered. A complementary scheme is also proposed to handle non-Gaussian noise on the guide image even if both are strongly correlated. This allows the guided bilateral filter to handle situations with more noise than the joint/cross bilateral filter can work with and leads to high peak signal-to-noise ratio values as shown experimentally. PMID:25585418

Caraffa, Laurent; Tarel, Jean-Philippe; Charbonnier, Pierre

2015-04-01

199

Impaired threat prioritisation after selective bilateral amygdala lesions.  

PubMed

The amygdala is proposed to process threat-related information in non-human animals. In humans, empirical evidence from lesion studies has provided the strongest evidence for a role in emotional face recognition and social judgement. Here we use a face-in-the-crowd (FITC) task which in healthy control individuals reveals prioritised threat processing, evident in faster serial search for angry compared to happy target faces. We investigate AM and BG, two individuals with bilateral amygdala lesions due to Urbach-Wiethe syndrome, and 16 control individuals. In lesion patients we show a reversal of a threat detection advantage indicating a profound impairment in prioritising threat information. This is the first direct demonstration that human amygdala lesions impair prioritisation of threatening faces, providing evidence that this structure has a causal role in responding to imminent danger. PMID:25282058

Bach, Dominik R; Hurlemann, Rene; Dolan, Raymond J

2015-02-01

200

Impaired threat prioritisation after selective bilateral amygdala lesions  

PubMed Central

The amygdala is proposed to process threat-related information in non-human animals. In humans, empirical evidence from lesion studies has provided the strongest evidence for a role in emotional face recognition and social judgement. Here we use a face-in-the-crowd (FITC) task which in healthy control individuals reveals prioritised threat processing, evident in faster serial search for angry compared to happy target faces. We investigate AM and BG, two individuals with bilateral amygdala lesions due to Urbach–Wiethe syndrome, and 16 control individuals. In lesion patients we show a reversal of a threat detection advantage indicating a profound impairment in prioritising threat information. This is the first direct demonstration that human amygdala lesions impair prioritisation of threatening faces, providing evidence that this structure has a causal role in responding to imminent danger. PMID:25282058

Bach, Dominik R.; Hurlemann, Rene; Dolan, Raymond J.

2015-01-01

201

Bilateral (opercular and paracentral lobular) polymicrogyria and neurofibromatosis type 1.  

PubMed

Anecdotal cases of polymicrogyria (PMG; a malformation of cortical development consisting of an excessive number of small gyri with abnormal lamination) in patients with neurofibromatosis type 1 (NF1) have been described; however, the cases were unilateral and had negative NF1 genetic testing. We describe an 11-year-old girl with NF1 manifesting as a complex epileptic syndrome, including partial seizures secondarily generalized and status epilepticus, who had in association, bilateral, asymmetrical (opercular and paracentral lobular) PMG. She had a 1-bp deletion (c.1862delC) in exon 12b of the NF1 gene. It is notable that, given the key role played by the NF1 gene product, neurofibromin, in normal brain development, and the relatively high frequency of other brain findings in NF1, there are not more NF1 cases with brain malformations manifesting as PMG. PMID:21344624

Ruggieri, Martino; Mastrangelo, Mario; Spalice, Alberto; Mariani, Rosanna; Torrente, Isabella; Polizzi, Agata; Bottillo, Irene; Di Biase, Claudio; Iannetti, Paola

2011-03-01

202

Bilateral Medial Medullary Stroke: A Challenge in Early Diagnosis  

PubMed Central

Bilateral medial medullary stroke is a very rare type of stroke, with catastrophic consequences. Early diagnosis is crucial. Here, I present a young patient with acute vertigo, progressive generalized weakness, dysarthria, and respiratory failure, who initially was misdiagnosed with acute vestibular syndrome. Initial brain magnetic resonance imaging (MRI) that was done in the acute phase was read as normal. Other possibilities were excluded by lumbar puncture and MRI of cervical spine. MR of C-spine showed lesion at medial medulla; therefore a second MRI of brain was requested, showed characteristic “heart appearance” shape at diffusion weighted (DWI), and confirmed bilateral medial medullary stroke. Retrospectively, a vague-defined hyperintense linear DWI signal at midline was noted in the first brain MRI. Because of the symmetric and midline pattern of this abnormal signal and similarity to an artifact, some radiologists or neurologists may miss this type of stroke. Radiologists and neurologists must recognize clinical and MRI findings of this rare type of stroke, which early treatment could make a difference in patient outcome. The abnormal DWI signal in early stages of this type of stroke may not be a typical “heart appearance” shape, and other variants such as small dot or linear DWI signal at midline must be recognized as early signs of stroke. Also, MRI of cervical spine may be helpful if there is attention to brainstem as well. PMID:24198988

Torabi, Amir M.

2013-01-01

203

Bilateral cataract surgery: A controlled clinical trial  

Microsoft Academic Search

Purpose  To evaluate the efficacy and safety of simultaneous bilateral cataract surgery with respect to patient satisfaction, outcomes,\\u000a and complication rates.\\u000a \\u000a \\u000a \\u000a Methods  We conducted a prospective study of consecutive patients who had simultaneous bilateral cataract surgery on the same day or\\u000a separate bilateral cataract surgery with an interval of 2 days between operations. The changes in refraction, visual acuity,\\u000a degree of anisometropia,

J. K. Chung; Song Hee Park; Woo Jin Lee; Sung Jin Lee

2009-01-01

204

Fibromuscular Dysplasia Presenting with Bilateral Renal Infarction  

SciTech Connect

Fibromuscular dysplasia (FMD) describes a group of conditions which cause nonatheromatous arterial stenoses, most commonly of the renal and carotid arteries, typically in young women. We report a rare case of bilateral segmental renal infarction secondary to FMD in a young male patient. His initial presentation with loin pain and pyrexia resulted in a delay in the definitive diagnosis of FMD. He was successfully treated with bilateral balloon angioplasty. The delayed diagnosis in this patient until the condition had progressed to bilateral renal infarcts highlights the need for prompt investigation and diagnosis of suspected cases of FMD.

Doody, O., E-mail: orla_doody@hotmail.co [Alfred Hospital, Department of Radiology (Australia); Adam, W. R. [University of Melbourne and Goulburn Valley Health, School of Rural Health (Australia); Foley, P. T.; Lyon, S. M. [Alfred Hospital, Department of Radiology (Australia)

2009-03-15

205

Bilateral symmetry across Aphrodite Terra  

NASA Technical Reports Server (NTRS)

There are three main highland areas on Venus: Beta Regio, Ishtar Terra and Aphrodite Terra. The latter is least known and the least mapped, yet existing analyses of Aphrodite Terra based on available Pioneer-Venus orbiter data suggest that it may be the site of extensive rifting. Some of the highest resolution (30 km) PV data (SAR) included most of the western half of Aphrodite Terra. Recent analysis of the SAR data together with Arecibo range-doppler topographic profiling (10 X 100 km horizontal and 10 m vertical resolution) across parts of Aphrodite, further characterized the nature of possible tectonic processes in the equatorial highlands. The existence of distinct topographic and radar morphologic linear discontinuities across the nearly east-west strike of Aphrodite Terra is indicated. Another prominent set of linear features is distinctly parallel to and orthogonal to the ground tracks of the PV spacecraft and are not included because of the possibility that they are artifacts. Study of the northwest trending cross-strike discontinuities (CSD's) and the nature of topographic and morphologic features along their strike suggest the presence of bilateral topographic and morphologic symmetry about the long axis of Aphrodite Terra.

Crumpler, L. S.; Head, J. W.; Campbell, D. B.

1987-01-01

206

Iliac Vein Compression Syndrome due to Bladder Distention Caused by Urethral Calculi  

PubMed Central

We report a rare case of iliac vein compression syndrome caused by urethral calculus. A 71-year-old man had a history of urethral stenosis. He complained of bilateral leg edema and dysuria for 1 week. Physical examination revealed bilateral distention of the superficial epigastric veins, so obstruction of both common iliac veins or the inferior vena cava was suspected. Plain abdominal computed tomography showed a calculus in the pendulous urethra, distention of the bladder (as well as the right renal pelvis and ureter), and compression of the bilateral common iliac veins by the distended bladder. Iliac vein compression syndrome was diagnosed. Bilateral iliac vein compression due to bladder distention (secondary to neurogenic bladder, benign prostatic hyperplasia, or urethral calculus as in this case) is an infrequent cause of acute bilateral leg edema. Detecting distention of the superficial epigastric veins provides a clue for diagnosis of this syndrome. PMID:25802794

Ikegami, Akiko; Kondo, Takeshi; Tsukamoto, Tomoko; Ohira, Yoshiyuki; Ikusaka, Masatomi

2015-01-01

207

[The Marinescu-Sjögren syndrome].  

PubMed

The patient, 54 years old, has an evolutive bilateral congenital cataract, with lens opacities, initially placed in posterior cortex and which developed to a total cataract. The patient also present oligophrenia, spinocerebral ataxia and trophic disturbances with kyphoscoliosis and extremities deforms. We insist on the research of the trophic and neurological disturbances at the patients with congenital cataract for the elucidation of some etiopathogenic aspects in the degenerative syndrome described by Marinescu. PMID:1845442

P?nescu, C

1991-01-01

208

Cowden Syndrome Presenting as Breast Cancer: Imaging and Clinical Features  

PubMed Central

Cowden syndrome is an uncommon, autosomal dominant disease which is characterized by multiple hamartomas of the skin, mucous membrane, brain, breast, thyroid, and gastrointestinal tract. The diagnosis of Cowden syndrome implicates an increased risk of developing breast cancer. We report a case of a 22-year-old woman with Cowden syndrome that presented as breast cancer with concomitant bilateral exuberant benign masses in both breasts. PMID:25246819

Seo, Mirinae; Ahn, Hye Shin; Moon, Hyeong-Gon

2014-01-01

209

Bilateral, Zero-Impedance Static Semiconductor Switch  

NASA Technical Reports Server (NTRS)

Static semiconductor switching circuit eliminates the undesirable features of electromechanical relays and conventional semiconductor switching circuits. There is a net zero voltage drop at the terminals and thus a zero impedance for bilateral currents there.

Doughman, C. L.

1968-01-01

210

Hereditary breast cancer and family cancer syndromes  

Microsoft Academic Search

Hereditary breast cancer (HBC) shows extant clinical and genetic heterogeneity. Clinically one finds the onset of breast cancer at an early age, an excess of bilaterality, and patterns of multiple primary cancer such as combinations of breast and ovarian carcinoma in the hereditary breast-ovarian cancer (HBOC) syndrome. In addition to HBOC, one sees a variety of putative breast cancer-prone genotypes

Henry T. Lynch; Jane Lynch; Theresa Conway; Patrice Watson; Jean Feunteum; Gilbert Lenoir; Steven Narod; Robert Fitzgibbons

1994-01-01

211

Goldenhar syndrome: a report of 3 cases.  

PubMed

We report here 3 cases with the classic signs of Goldenhar syndrome in the form of multiple accessory tragi, bilateral ocular dermoids, mandibular hypoplasia (micrognathia), and facial microsomia. One of the patients also had vitiligo, which is yet to be reported as an association. PMID:23723509

Gaurkar, Sudarshan P; Gupta, Khushboo D; Parmar, Kirti S; Shah, Bela J

2013-05-01

212

Goldenhar Syndrome: A Report of 3 Cases  

PubMed Central

We report here 3 cases with the classic signs of Goldenhar syndrome in the form of multiple accessory tragi, bilateral ocular dermoids, mandibular hypoplasia (micrognathia), and facial microsomia. One of the patients also had vitiligo, which is yet to be reported as an association. PMID:23723509

Gaurkar, Sudarshan P; Gupta, Khushboo D; Parmar, Kirti S; Shah, Bela J

2013-01-01

213

XX male syndrome in a cryptorchid stallion.  

PubMed

A bilateral cryptorchid stallion with mild development of mammary glands was identified as an XX male by karyotyping. Necropsy revealed underdeveloped accessory sex organs and hypoplastic, inguinally located testes that were deficient of spermatogonia. Evaluation of routine hormonal profiles (without karyotyping) would have failed to diagnose this syndrome. PMID:7928556

Constant, S B; Larsen, R E; Asbury, A C; Buoen, L C; Mayo, M

1994-07-01

214

Zoster sine herpete with bilateral ocular involvement  

Microsoft Academic Search

PURPOSE: To report a case of zoster sine herpete with bilateral ocular involvement.METHOD: Case report.RESULTS: A 65-year-old man showed bilateral iridocyclitis with sectoral iris atrophy and elevated intraocular pressure unresponsive to steroid treatment. No cutaneous eruption was manifest on the forehead. A target region of varicella-zoster virus DNA sequence was amplified from the aqueous sample from the left eye by

Makoto Nakamura; Masumi Tanabe; Yuko Yamada; Atsushi Azumi

2000-01-01

215

Fatal bilateral pneumothoraces complicating subclavian vein catheterization.  

PubMed

Bilateral pneumothoraces complicating attempted bilateral subclavian vein catheterization culminated in the iatrogenic death of the patient. Complications of subclavian vein catheterization are reviewed briefly. This procedure should be limited to patients in whom its use is clearly indicated and should be performed only by individuals who are experienced in the anatomy of the region, who are trained in the technique of subclavian puncture, and who have the means and ability to perform immediate tube thoracostomy should pneumothorax occur. PMID:404118

Maggs, P R; Schwaber, J R

1977-04-01

216

Bilateral control of teleoperators with time delay  

NASA Technical Reports Server (NTRS)

The authors present a novel control law for teleoperators which overcomes the instability caused by time delay. By using passivity and scattering theory, a criterion is developed which shows why existing bilateral control systems are unstable for certain environments, and why the proposed bilateral control law is stable for any environment and any time delay. The control law was implemented on a single-axis force-reflecting hand controller, and preliminary results are shown.

Anderson, Robert J.; Spong, Mark W.

1988-01-01

217

[Bilateral floating forearm: a case report].  

PubMed

The combination of elbow dislocation and perilunate dislocation is rare. The prognosis of this condition depends mainly on that of the wrist. While some cases of floating forearm have been reported, no bilateral affection has -of yet- to our knowledge, been published. The authors report a case of a young patient who presented with bilateral floating forearm after a fall from a height. The treatment was surgical at the wrist. The functional result is similar to cases reported in the literature. PMID:21507701

Zejjari, H; Louaste, J; Chkoura, M; Rachid, K

2011-04-01

218

Bilateral Candida albicans dacryocystitis with facial cellulitis.  

PubMed

Candida albicans rarely infects the lacrimal drainage system. This paper describes a case of bilateral C. albicans dacryocystitis following midfacial trauma. The patient presented with recurrent facial cellulitis and a fistula opening onto the cheek. The condition was controlled only after bilateral dacryocystorhinostomy along with amphotericin B therapy. This appears to be the first reported case in which the lacrimal sacs acted as a reservoir for microorganisms causing recurrent facial cellulitis. PMID:7127203

Codère, F; Anderson, R L

1982-08-01

219

Eosinophilic granuloma: bilateral temporal bone involvement.  

PubMed

Eosinophilic granuloma is an uncommon condition that is characterized by unifocal or multifocal osteolytic lesions that often affect the skull. Unilateral lesions of the temporal bone are not uncommon, but bilateral temporal bone lesions are rare. In fact, to the best of our knowledge, fewer than 20 such cases have been reported during the past 40 years. We report a new case of bilateral temporal bone eosinophilic granuloma, and we review the disease process and its treatment. PMID:17703812

Barton, Chester P; Horlbeck, Drew

2007-06-01

220

Pigmentary dispersion syndrome induced by a posterior chamber phakic refractive lens  

Microsoft Academic Search

PURPOSE: To report a case of bilateral pigmentary dispersion syndrome (PDS) induced by the implantation of posterior chamber phakic refractive lenses (PRLs).METHOD: Case report.RESULTS: Following bilateral implantation of posterior chamber phakic refractive lenses in 38-year-old woman, unilateral elevated intraocular pressure (IOP) developed within months that was attributable to pigment dispersion within the anterior chamber. Findings consistent with PDS included bilateral

James D Brandt; Michael E Mockovak; Arturo Chayet

2001-01-01

221

Swyer-James Syndrome—Unilateral Hyperlucent Lung SyndromeA Case Report and Review  

Microsoft Academic Search

Swyer-James syndrome is a pulmonary condition acquired following bronchiolitis obliterans early in life. Clinically characterized by repeated bouts of pulmonary infections, Swyer-James syndrome is characterized radiographically by a unilateral small, hyperlucent lung that demonstrates diminished arterial supply to the involved lung, air-trapping, and bronchiectasis. Radioimaging procedures may reveal otherwise unsuspected bilateral involvement. A 14-year-old Caucasian female with classic findings of

Terri L. Daniel; John H. Woodring; H. David Wilson

1984-01-01

222

MRI of enlarged endolymphatic sacs in the large vestibular aqueduct syndrome  

Microsoft Academic Search

We studied ten inner ears of five patients with a bilateral large vestibular aqueduct syndrome, using CT and MRI. Although\\u000a the large vestibular aqueduct varied in size, a markedly dilated endolymphatic sac extending to the sigmoid sinus was demonstrated\\u000a bilaterally on MRI in all patients. The cause of hearing loss in this syndrome is unclear. However, it is suggested that

K. Okamoto; J. Ito; T. Furusawa; K. Sakai; S. Horikawa; S. Tokiguchi

1998-01-01

223

Usher syndrome  

Microsoft Academic Search

Keywords Included diseases Excluded diseases History Definition Frequency of the various Usher syndromes Usher Syndrome Type 1 (USH1) Usher syndrome Type 2 (USH2) Usher syndrome Type 3 (USH3) Sensorineural Deafness with RP Diagnosis methods Management including treatment Genetic counseling Unresolved questions References Annex Abstract Usher syndrome is defined as a genetically heterogeneous condition comprising 12 independent loci with nine known

Birgit Lorenz; John Marshall

224

Nongranulomatous anterior uveitis in a patient with Usher syndrome.  

PubMed

A 34-year-old female with Usher syndrome, but no family history of similar illness, presented with complaints of vision reduction, redness, and photophobia. Biomicroscopic examination showed mildly injected conjunctivae bilateral, small, round keratic precipitates; bilateral +2 cells with no flare reaction in the anterior chamber; and bilateral posterior subcapsular cataracts. No associated posterior synechiae, angle neovascularization, or iris changes were detected; normal intraocular pressures were obtained. Fundus examination demonstrated waxy pallor of both optic nerves, marked vasoconstriction in retinal vessels, and retinal bone spicule pigment formation, with a normal macula. Electroretinography confirmed the diagnosis of retinitis pigmentosa, optical coherent tomography was normal and otolaryngology consultation was conducted. To our knowledge, an association between Usher syndrome and bilateral nongranulomatous anterior uveitis has not been previously reported, and our purpose is to report this association. PMID:24371428

Alzuhairy, Sultan Abdulaziz S; Alfawaz, Abdullah

2013-10-01

225

COMPARISON OF BILATERAL VERSUS UNILATERAL VARICOCELECTOMY IN MEN WITH PALPABLE BILATERAL VARICOCELES  

Microsoft Academic Search

PurposeThe left varicocele is usually larger in men with bilateral varicoceles. We hypothesized that most of the benefit of varicocelectomy would derive from repair of the larger varicocele. To test this hypothesis we prospectively compared the effect of unilateral versus bilateral microsurgical varicocelectomy in men with large (grade III) or moderate (II) left varicocele associated with small but palpable (I)

DOUGLAS SCHERR; MARC GOLDSTEIN

1999-01-01

226

Bilateral renal cell carcinoma with bilateral synchronous adrenal gland metastases - a case report.  

PubMed

The authors reported a case of a 52-year-old patient with bilateral synchronous renal cell carcinoma synchronously disseminated in adrenal glands is presented. The patient underwent surgical treatment: radical nephrectomy on the right side, bilateral adrenectomie on the right and partial nephrectomy on the left side. Five years after surgery, patient is in complete remission. PMID:24670342

Hadzi-Djokic, J; Andrejevic, Vladan; Pejcic, T; Djurasic, L; Acimovic, M; Dzamic, Z

2014-02-01

227

A newborn with complex skeletal abnormalities, joint contractures, and bilateral corneal clouding with sclerocornea.  

PubMed

A newborn presented to genetics with complex skeletal abnormalities, joint contractures, and bilateral corneal clouding with sclerocornea. The patient survived for 8 months before succumbing to respiratory failure. Exome sequencing revealed a compound heterozygous mutation in theB3GALT6gene. Mutations in this gene have been associated with both Ehlers- Danlos syndrome, progeroid type 2 and spondyloepimetaphyseal dysplasia with joint laxity type 1. These diagnoses encompass the skeletal and joint findings. Our patient expands the phenotype of these diagnoses, as anterior segment eye anomalies have not been described with either syndrome, and he is much more profoundly affected. Interestingly, our patient fits the description of a rare genetic disease referred to as Al-Gazali syndrome, for which the genetic cause is unknown. PMID:25149931

Sellars, Elizabeth A; Bosanko, Katherine A; Lepard, Tiffany; Garnica, Adolfo; Schaefer, Gerald Bradley

2014-06-01

228

Bilateral pheochromocytoma as first manifestation of von Hippel-Lindau disease: a case report.  

PubMed

Von Hippel-Lindau syndrome is an autosomal dominant disorder that includes susceptibility to hemangioblastomas of the eyes and central nervous system, renal clear cell carcinoma, multiple pancreatic cysts, serous cystadenomas and pancreatic neuroendocrine tumors, pheochromocytoma, endolymphatic sac tumors, and cystadenomas of the epididymis and broad ligament. We present a 16-year-old male who had been followed for having bilateral adrenal, and in addition, extraadrenal multifocal pheochromocytoma for six years. At the age of 16, he presented with bilateral retinal hemangioblastomas, which led to the diagnosis of von Hippel-Lindau disease type 2A confirmed by genetic analysis. The patient's mother also had bilateral adrenal pheochromocytoma with no other von Hippel Lindau-associated tumor. In children, pheochromocytoma may be the only and/or initial manifestation of the disease with delayed manifestations of the syndrome in other organs. Von Hippel-Lindau disease is a complex multidisciplinary disorder that requires well-coordinated medical care. Surveillance of these patients and asymptomatic relatives may prevent morbidity and mortality and improve long- term prognosis. Molecular analysis of the von Hippel-Lindau gene is useful for early diagnosis of the disease in individuals who do not yet fulfill the clinical diagnostic criteria and is instrumental in the management and follow-up of the affected family. PMID:23427520

Catli, Gönül; Abaci, Ayhan; Neumann, H C Hartmut; Altincik, Ayça; Demir, Korcan; Böber, Ece

2012-01-01

229

Bilateral adrenal tumors from different histology: case report and literature review.  

PubMed

Bilateral adrenal tumors are very uncommon in clinical practice and all originate from the same histology. We presented here a case report and literature review of bilateral adrenal tumors from different histology: pheochromocytoma in one side and adrenocortical adenoma in the other side. The patient was a 37 years old female suffered from Cushing's syndrome form 3 years. One year ago she was diagnosed as ACTH-independent Cushing's syndrome and received Laparoscopic adrenalectomy for right adrenal tumor which diagnosed as a pheochromocytoma by the pathological reports. After the operation, patient's clinical manifestation was not change, then half-year later the lab test showed no improvement in the blood biochemical parameters. Finally, CT detected a mass in left adrenal gland. Thereafter, this patient received Laparoscopic adrenalectomy for left adrenal tumor. The tumor was diagnosed as adrenocortical adenoma by the pathologists. One week after operation, the blood biochemical parameters became normal. In conclusion, bilateral adrenal tumors from different histology are very rare, adrenalectomy for both side tumors and preserving the normal adrenal glands is necessary. PMID:25164113

Zhang, Yushi; Li, Hanzhong; Xiao, Jianchun; Zhou, Yi; Zhou, Zhien; Tong, Anli

2015-01-01

230

Williams syndrome  

MedlinePLUS

Williams-Beuren syndrome ... Williams syndrome is a rare condition caused by missing a copy of several genes. Parents may not have ... history of the condition. However, a person with Williams syndrome has a 50% chance of passing the disorder ...

231

Dravet Syndrome  

MedlinePLUS

NINDS Dravet Syndrome Information Page Synonym(s): Severe Myoclonic Epilepsy of Infancy (SMEI) Table of Contents (click to ... Dravet Syndrome? Dravet syndrome, also called severe myoclonic epilepsy of infancy (SMEI), is a severe form of ...

232

Metabolic Syndrome  

MedlinePLUS

... page from the NHLBI on Twitter. What Is Metabolic Syndrome? Metabolic (met-ah-BOL-ik) syndrome is the ... three metabolic risk factors to be diagnosed with metabolic syndrome. A large waistline. This also is called abdominal ...

233

Down Syndrome  

MedlinePLUS

... Information Clinical Trials Resources and Publications En Español Down Syndrome: Condition Information Skip sharing on social media links Share this: Page Content What is Down syndrome? Down syndrome describes a set of cognitive and ...

234

Dumping Syndrome  

MedlinePLUS

... Disease Organizations?? (PDF, 341 KB)????? Alternate Language URL Dumping Syndrome Page Content DUE TO UNFORESEEN CIRCUMSTANCES, PUBLICATION ... through Research For More Information Acknowledgments What is dumping syndrome? Dumping syndrome occurs when food, especially sugar, ...

235

Brown Syndrome  

MedlinePLUS

... Does Brown syndrome cause eye problems besides abnormal eye movements? Some children with Brown syndrome have poor binocular ... In the congenital form of Brown syndrome, the eye movement problem is usually constant and unlikely to resolve ...

236

Neglected surgically intervened bilateral congenital dislocation of knee in an adolescent  

PubMed Central

Neglected bilateral congenital dislocation of knee is unusual. A 12 year old boy presented with inability to walk due to buckling of the knee. The symptoms were present since the child learnt walking. He preferred not to walk. Bilateral supracondylar femoral osteotomy was done at the age of 6 years. Patient had a fixed flexion deformity of both knees, 30° in the right (range of flexion from 30° to 45°) and 45° fixed flexion deformity in left knee respectively (range of flexion from 45° to 65°) when presented to us. The radiological examination revealed bilateral congenital dislocation of knee (CDK). No syndromic association was observed. He was planned for staged treatment. In stage I, the knee joints were distracted by Ilizarov ring fixators and this was followed by open reduction of both the knee joints in stage II. A bilateral supracondylar extension osteotomy was done 18 months after the previous surgery (stage III). The final followup visit at 4 years the patient presented with range of motion 5-100° and 5-80° on the right and left knee respectively with good functional outcome. The case is reported in view of lack of treatment guidelines for long standing neglected CDK in an adolescent child. PMID:24600070

Kumar, Jaswant; Dhammi, Ish Kumar; Jain, Anil K

2014-01-01

237

Bilateral Facial Nerve Palsy: A Diagnostic Dilemma  

PubMed Central

Introduction. Bilateral facial nerve palsy (FNP) is a rare condition, representing less than 2% of all cases of FNP. Majority of these patients have underlying medical conditions, ranging from neurologic, infectious, neoplastic, traumatic, or metabolic disorders. Objective. The differential diagnosis of its causes is extensive and hence can present as a diagnostic challenge. Emergency physicians should be aware of these various diagnostic possibilities, some of which are potentially fatal. Case Report. We report a case of a 43-year-old female who presented to the emergency department with sequential bilateral facial nerve paralysis which could not be attributed to any particular etiology and, hence, presented a diagnostic dilemma. Conclusion. We reinforce the importance of considering the range of differential diagnosis in all cases presenting with bilateral FNP. These patients warrant admission and prompt laboratory and radiological investigation for evaluation of the underlying cause and specific further management as relevant. PMID:23326715

Pothiawala, Sohil; Lateef, Fatimah

2012-01-01

238

Bilateral Supernumerary Kidney: A Very Rare Presentation  

PubMed Central

To our knowledge, bilateral supernumerary kidney is a very rare renal abnormality and there are five cases presented in the literature. It is difficult to diagnose supernumerary kidney and clinicians have not detected most cases preoperatively. Laboratory and imaging studies were acquired and carefully examined. The normal laboratory tests were found. Emergency ultrasonography was performed and they revealed no signs of parenchymal abnormality in both kidneys. Serial imaging study including enhanced computed tomography (CT) was performed. An imaging study identified bilateral supernumerary kidney with expanded collecting systems. On each side, significant rotation anomaly was found. In addition, there were two different renal arteries originating from the aorta. This report presents radiological determinations of supernumerary kidney bilaterally in a young man. We think that CT commonly appears to be enough for the diagnosis of supernumerary kidneys.

Keskin, Suat; Batur, Abdussamet; Keskin, Zeynep; Koc, Abdulkadir; Firat Ozcan, Irfan

2014-01-01

239

Bilateral self-inflicted infectious dacryoadenitis.  

PubMed

The aim of this report is to present a case of a patient with bilateral lacrimal gland abscesses in the course of dacryoadenitis. A 45-year-old female patient with a long history of cocaine abuse presented with bilateral bacterial dacryoadenitis and upper lid inflammation with purulent discharge from a palpebral wound of the right upper lid. The diagnosis was confirmed with microbiology culture and an orbital CT scan, which revealed lacrimal gland abscesses. The patient admitted to vigorous eye scratching, which we believe was the mechanism responsible for the process. The infection resolved on targeted antibiotic therapy. This is the first reported case of bilateral infectious dacryoadenitis produced in a self-inflicted mechanism in a cocaine addict. PMID:25208047

Latasiewicz, Marta; Chang-Sotomayor, Meilin; Alonso-Caldarelli, Claudia; Farias-Plazas, Fabian; Leszczynska, Anna; Gonzalez-Candial, Miguel

2014-12-01

240

[Syndromes 21: Ellis-Van Creveld syndrome].  

PubMed

Patients with the Ellis-Van Creveld syndrome have a short stature. The extremities are often plump and markedly shortened, progressively from the trunk to the fingers and the toes. A bilateral postaxial sixth finger is frequent. The most striking and consistent finding in the mouth is fusion of the middle part of the upper lip to the labial sulcus, resulting in a so-called 'whistling deformity'. Congenitally missing teeth, particularly in the frontal region, are a constant finding too. Teeth are usually small and have conical crowns. Supernummer teeth have also been noted. The oral and maxillofacial surgeon will treat the hypertrophic upper frenulum; the dentist will treat the oligodontia of the frontal region and the conical crowns by means of laminated veneers and etch composite bridgework. PMID:11385805

Baart, J A; van Hagen, J M

2000-06-01

241

Bilateral control of teleoperators with time delay  

NASA Technical Reports Server (NTRS)

A control law for teleoperators is presented which overcomes the instability caused by time delay. By using passivity and scattering theory, a criterion is developed which shows why existing bilateral control systems are unstable for certain environments, and why the proposed bilateral control law is stable for any environment and any time delay. The control law has been implemented on a single-axis force-reflecting hand controller, and preliminary results are shown. To keep the presentation clear, a 1-DOF linear time-invariant teleoperator system is discussed. Nevertheless, the results can be extended without loss of generality to an n-DOF nonlinear teleoperation system.

Anderson, Robert J.; Spong, Mark W.

1989-01-01

242

Bilateral Hypertrophic Olivary Degeneration in Wilson Disease  

PubMed Central

Hypertrophic olivary degeneration resulting from lesions of the dento-rubro-olivary pathway, also called Guillain-Mollaret-triangle, has been described previously in a number of cases. Reports about bilateral hypertrophic olivary degeneration of the inferior olivary nuclei are very limited, and the magnetic resonance imaging findings of hypertrophic olivary degeneration in Wilson disease have not yet been described to the best of our knowledge. Herein, we present the first report of bilateral hypertrophic olivary degeneration diagnosed by magnetic resonance imaging in a patient suffering from Wilson disease. PMID:23482821

Guenther, Peter; Hoffmann, Karl-Titus

2013-01-01

243

Bilateral orbital varices: an approach to management.  

PubMed

The authors report a case of bilateral orbital varices in a 19-year-old man with a 7-year history of intermittent left proptosis and dystopia. CT demonstrated enhancing lesions with phleboliths and gadolinium-enhanced MRI showed characteristic hyperintense lesions. The asymptomatic right lesion was treated conservatively; the left lesion was excised following intralesional injection of cyanoacrylate. Bilaterality in orbital varices may not be obvious clinically and only diagnosed radiologically. A multidisciplinary approach involving the ophthalmologist and interventional radiologist using intraoperative fluoroscopy enabled accurate characterization, delineation, embolizationm, and excision of the lesion with good hemostatic control. PMID:19033851

Tsai, Andrew S H; Fong, Kee Siew; Lim, Winston; Al Jajeh, Issam; Chuah, Chin Tek; Rootman, Jack

2008-01-01

244

Generalized bilateral control of robot arms  

NASA Technical Reports Server (NTRS)

This paper summarizes the theory of a new form of bilateral or force-reflecting manual control of remote robot (slave) arms. The mathematics of workspace representation, command structure, kinematic and dynamic control coordination required for implementing the new form of generalized bilateral control through computer programs is presented. The paper concludes with a brief description of implementation organization of the new system using a six-degree-of-freedom backdrivable hand controller, a PUMA 560 robot arm and a distributed net of microcomputers organized in two groups: one at the remote work site and one at the control station.

Bejczy, A. K.; Lee, S.

1984-01-01

245

Bilateral vision loss responsive to corticosteroids.  

PubMed

A 48-year-old woman presented with painless bilateral vision loss that began in the left eye and responded to steroids, followed by vision loss in the right eye one day after completing her steroid taper. Diagnosis was complicated by a positive screening test for Leber hereditary optic neuropathy and a negative workup for demyelinating disease. Steroid-dependent optic neuropathies such as autoimmune optic neuropathy and chronic relapsing inflammatory optic neuropathy were considered in the differential. Seven months after initial presentation, the patient developed a new periventricular white matter lesion, lesions on her cervical and thoracic spinal cord, bilateral leg weakness, and sensory loss consistent with multiple sclerosis. PMID:23153758

Lee, Michele D; Song, Brian J; Odel, Jeffrey G; Sadun, Alfredo A

2013-01-01

246

Second-Side Surgery in Superior Canal Dehiscence Syndrome  

PubMed Central

Objective Bilateral superior canal (SC) dehiscence syndrome poses a challenge because bilateral SC dehiscence (SCD) plugging might be expected to result in oscillopsia and disability. Our aims were as follows: 1) to evaluate which symptoms prompted patients with bilateral SCD syndrome (SCDS) to seek second-side surgery, and 2) to determine the prevalence of disabling imbalance and oscillopsia after bilateral SC plugging. Study Design Prospective observational study. Setting Tertiary referral center. Patients Five patients with bilateral SCDS based on history, audiometric and physiologic testing, and computed tomographic findings. This includes all of our patients who have had second-side plugging surgery to date. Intervention(s) Bilateral sequential middle fossa craniotomy and plugging of SCs. Main Outcome Measure(s) Cochleovestibular symptoms, cervical and ocular vestibular-evoked myogenic potential testing, dizziness handicap inventory, short-form 36 Health Survey, dynamic visual acuity testing. Results The most common symptoms prompting second-side surgery were sound- and pressure-induced vertigo and autophony. Three of the 5 patients reported that symptoms shifted to the contralateral ear immediately after plugging the first side, whereas in 2 patients, contralateral symptoms developed several years after the first SC plugging. Two of 4 patients experienced ongoing oscillopsia after bilateral SCDS surgery; however, all patients reported relief from their SCD symptoms and were glad that they had pursued bilateral surgery. Conclusion In patients with bilateral SCDS, sound- and pressure-induced vertigo most commonly prompted second-side surgery. Despite some degree of oscillopsia after bilateral SCDS surgery, patients were very satisfied with second-side surgery, given their relief from other SCDS symptoms. PMID:22158019

Agrawal, Yuri; Minor, Lloyd B.; Schubert, Michael C.; Janky, Kristen L.; Davalos-Bichara, Marcela; Carey, John P.

2014-01-01

247

Lipodermoid in a patient with Emanuel syndrome.  

PubMed

We report an 8-month-old boy with Emanuel syndrome who also had the clinical features of Goldenhar syndrome. At birth, he was observed to have bilateral microtia with multiple auricular pits, retrognathia, and a unilateral lipodermoid. Further testing revealed cardiac defects. The finding of a lipodermoid in Emanuel syndrome demonstrates phenotypic overlap between Goldenhar and Emanuel syndromes and suggests a role for genetic analysis in all patients with clinical features that include ear anomalies and lipodermoids. Correct identification of patients with Emanuel syndrome is important for determining whether there is risk of long-term neurodevelopmental disability, and genetic testing can determine parental carrier status to aid in family planning. PMID:23528375

Glaser, Tanya S; Rauen, Katherine A; Jeng, Linda J B; de Alba Campomanes, Alejandra G

2013-04-01

248

Sparse MEG source imaging in Landau-Kleffner syndrome.  

PubMed

Epilepsy patients with Landau-Kleffner syndrome (LKS) usually have a normal brain structure, which makes it a challenge to identify the epileptogenic zone only based on magnetic resonance imaging (MRI) data. A sparse source imaging technique called variation based sparse cortical current density (VB-SCCD) imaging was adopted here to reconstruct cortical sources of magnetoencephalography (MEG) interictal spikes from an LKS patient. Realistic boundary element (BE) head and cortex models were built by segmenting structural MRI. 148-channel MEG was recorded for 10 minutes between seizures. Total 29 epileptiform spikes were selected for analysis. The primary cortical sources were observed locating at the left intra- and perisylvian cortex. Multiple extrasylvian sources were identified as the secondary sources. The spatio-temporal patterns of cortical sources provide more insights about the neuronal synchrony and propagation of epileptic discharges. Our observations were consistent with presurgical diagnosis for this patient and observation of aphasia in LKS. The present results suggest that the promising of VB-SCCD technique in assisting with presurgical planning and studying the neural network for LKS in determining the lateralization of epileptic origins. It can further be applied to non-invasively localize and/or lateralize eloquent cortex for language for epilepsy patients in general in the future. PMID:22255439

Zhu, Min; Zhang, Wenbo; Dickens, Deanna; Ding, Lei

2011-01-01

249

Chromatin and transcriptional regulators act in a cascade to establish a bilateral asymmetry of the C. elegans nervous system  

E-print Network

Neuroanatomical bilateral asymmetry is a widespread feature in both vertebrates and invertebrates. Although mostly bilaterally symmetric, the nervous system of Caenorhabditis elegans displays bilateral asymmetry. Bilateral ...

Nakano, Shunji, Ph. D. Massachusetts Institute of Technology

2011-01-01

250

Bilateral Synergy: A Framework for Post-Stroke Rehabilitation  

PubMed Central

Background Unilateral stroke produces debilitating deficits in voluntary control in the contralesional arm, and significant motor coordination deficits in the ipsilesional arm. In addition, patients tend to avoid bilateral arm patterns and during performance of activities of daily living. Nevertheless, upper extremity physical rehabilitation predominantly focuses on motor training activities with only the paretic arm. This can be limiting because of persistent deficits in the ipsilesional arm, and because of the tendency of patients to avoid spontaneous bilateral arm patterns. Proposition Rehabilitation should focus on bilateral training to advance recovery of function in both arms of stroke patients, as well as to facilitate spontaneous bilateral arm use. This paper reviews the rationale for this approach, citing evidence for significant hemisphere specific bilateral motor deficits in stroke patients, which affect both the contralesional and the ipsilesional arm. The rationale for, and advantages of, training both arms simultaneously through bilateral tasks is reviewed. Although bilateral training has been employed to treat stroke patients previously, this has tended to focus on bimanual ‘coupling’ as a rationale for performing parallel, but not cooperative bilateral tasks. Bilateral synergy provides a more functional framework for structuring post-stroke upper extremity rehabilitation. Conclusion Bilateral synergy may be causally linked to spontaneous bilateral arm use, suggesting that rehabilitation should be focused on bilateral cooperative tasks, such as bilateral object transport. Further research is required to determine whether this approach could be efficacious for patients with hemiparesis, and whether both left and right hemisphere strokes can benefit from such intervention. PMID:24729985

Sainburg, RL; Good, D; Przybyla, A

2014-01-01

251

Severe hyperkalemia and bilateral adrenal metastasis.  

PubMed

Adrenal metastases are a common finding in metastatic lung and breast cancer. Often there are no clinical symptoms suggesting them. In this paper, we present a case of a 66-year-old man with metastatic lung cancer suffering from severe hyperkaliemia due to hypoaldosteronism as a result of bilateral adrenal metastasis. PMID:20204181

Nagler, Michael; Müller, Beat; Briner, Verena; Winterhalder, Ralph

2009-01-01

252

Bilateral symmetry breaking in nonlinear circular cylinders  

E-print Network

nonlinear Fabry-Perot interferometer: an analytical study," Opt. Lett. 15, 14121414 (1990). 5. C. Par.P. Torres, J. Boyce, and R.Y. Chiao, "Bilateral symmetry breaking in a nonlinear Fabry-Perot cavity. Baets, "Symmetry breaking with coupled Fano resonances," Opt. Express 16, 30693076 (2008). 12. K

Lu, Ya Yan

253

Complex bilateral finlines: a new analysis  

Microsoft Academic Search

An electromagnetic application is developed to obtain the effective dielectric constant, the attenuation constant and the characteristic impedance of the arbitrary bilateral fin lines with semiconductor substrate and conductor thickness simultaneously at the first attempt. Also the concise Transverse Transmission Line-TTL-full wave method is used, in the analysis. New results of the complex propagation and of the characteristic impedance as

H. C. C. Fernandes; J. De Albuquerque Sales Neto

1998-01-01

254

Bilateral hand oedema related to acupuncture.  

PubMed

We report the case of bilateral hand swelling following acupuncture therapy for chronic low back pain. Despite thorough history, examination and laboratory testing no systemic cause for the swelling could be elicited. This case highlights the incomplete knowledge of acupuncture mechanisms and that limited acupuncture therapy can have significant adverse effects. PMID:10666550

McCartney, C J; Herriot, R; Chambers, W A

2000-02-01

255

Bilateral hand oedema related to acupuncture  

Microsoft Academic Search

We report the case of bilateral hand swelling following acupuncture therapy for chronic low back pain. Despite thorough history, examination and laboratory testing no systemic cause for the swelling could be elicited. This case highlights the incomplete knowledge of acupuncture mechanisms and that limited acupuncture therapy can have significant adverse effects.

Colin J. L. McCartney; Richard Herriot; W. Alastair Chambers

2000-01-01

256

Experiences with Bilateral Art: A Retrospective Study  

Microsoft Academic Search

Recent advances in neuroscience describe the effect of experience on neural architecture. Paralleling these advances in neuroscience, recent explorations in the field of art therapy speculate on the relationship between specific therapeutic interventions and neuroplasticity, which underlies the changes in neural architecture. One such intervention, bilateral art, purposefully engages both left and right hemispheres of the brain, as well as

Carole M. McNamee

2006-01-01

257

Bilateral adrenal lymphoma presenting as Addison's disease  

Microsoft Academic Search

We describe an unusual case of non-Hodgkin's lymphoma of the adrenals which presented as Addison's disease. Examination of tissue taken by computed tomography guided biopsy revealed a high grade B cell centroblastic lymphoma. The patient was treated with chemotherapy but died from invasive aspergillosis. Autopsy confirmed bilateral adrenal involvement by lymphoma.

A. Pagliuca; D. S. Gillett; J. R. Salisbury; R. N. Basu; G. J. Mufti

1989-01-01

258

Bilateral comparison of radiated emission measurements  

NASA Astrophysics Data System (ADS)

The objective of this study is to perform a proficiency testing by bilateral comparison of radiated emission measurements between accredited laboratories. The results show that both laboratories are in conformity with the criterion of acceptance proposed by a comparison, which is the uniformity between the measured values according to normalized error ratio.

Dias, M. S.; Barbosa, M. F.; Junior, A. G. F.; Filho, M. L. P.; Silva, L. C.; Andrade, A. S.

2015-01-01

259

Bilateral integration in the common chemical sense.  

PubMed

Human participants judged the pungency of various concentrations of carbon dioxide presented to one nostril, the other nostril, or both (dichorhinic stimulation). Perceived magnitude grew sharply with concentration over the range explored. The combinatorial rule of bilateral integration followed the Pythagorean theorem: the effective mass in a bilateral stimulus equalled the square root of the sum of squares of the mass entering each nostril. This simple rule implies a possible mutual inhibitory interaction between the two nostrils, but it also implies partial spatial summation of the sensory impact of bilaterally presented concentrations. When persons inhale a relatively strong irritant, such as the higher concentrations used here, they will exhibit a very brief reflex interruption of inhalation. An experiment on the threshold for the reflex implied that it too followed the Pythagorean rule of integration. This occurred for both males and females, though females displayed a lower threshold for the reflex, whether evoked unilaterally or bilaterally. This reflex may hold promise as an objective indicator of functional status of the nasal common chemical sense. PMID:7146140

Garcia Medina, M R; Cain, W S

1982-08-01

260

Bilateral hypoplasia of the internal carotid artery  

PubMed Central

Agenesis and hypoplasia of the internal carotid artery (ICA) are rare congenital anomalies, occurring in less than 0.01% of the population. We report a rare case of bilateral hypoplasia of the ICA in a patient with post-traumatic subarachnoid hemorrhage. We describe the embryological development of the cerebral vasculature and present a review of literature. PMID:22223934

Bhat, Dhananjaya I; Somanna, Sampath; Kovoor, Jerry ME

2011-01-01

261

Computed tomographic findings in bilateral adrenal tuberculosis  

SciTech Connect

The computed tomographic (CT) features of bilateral adrenal tuberculosis are reported in two cases that demonstrate two typical different clinical and morphological manifestations of the disease. The incidence and CT appearance of adrenal tuberculosis are discussed, with emphasis on differential diagnosis.

Wilms, G.E. (Katholicke Universiteit Leuven, Belgium); Baert, A.L.; Kint, E.J.; Pringot, J.H.; Goddeeris, P.G.

1983-03-01

262

Metabolic Syndrome  

MedlinePLUS

... you know? One in five Americans has the metabolic syndrome. WhO is At risk fOr the metAbOlic syndrOme? The syndrome runs in families and is more ... High blood pressure Most people who have the metabolic syndrome feel healthy and may not have any signs ...

263

Sporadic bilateral synchronous multicentric papillary renal cell carcinoma masquerading as bilateral multifocal pyelonephritis.  

PubMed

Pyelonephritis is defined as an inflammation of the kidney and renal pelvis. The diagnosis is usually clinical. Acute multifocal bacterial nephritis is a rare form of pyelonephritis that is more severe and sepsis is more common. We report a patient who presented with fever and right-sided abdominal pain associated with right flank tenderness, suggesting right acute pyelonephritis. Bilateral multifocal pyelonephritis was diagnosed on ultrasonography, radionuclide renal scintigraphy and computed tomography. However, owing to non-resolution of symptoms, a biopsy was performed, which showed bilateral papillary renal cell carcinoma (PRCC). PRCC is known to exhibit multicentricity. To our knowledge, a case of bilateral multicentric PRCC masquerading as bilateral multifocal pyelonephritis has not been reported in the English literature. This case highlights the need to be vigilant while treating patients with focal lesions of the kidney as an inflammatory condition lest a malignancy should be missed. PMID:24992402

Karthikeyan, V S; Dorairajan, L N; Kumar, S; Vijayakumar, A R; Ramesh, A; Ganesh Rajesh, N; Halanaik, D; Gupta, S

2014-07-01

264

Bilateral botryoid nephroblastoma: a rare cause of renal failure  

PubMed Central

The authors describe the case of a 16-month-old girl who presented with bilateral hydronephrosis and renal failure secondary to bilateral renal pelvic botryoid Wilms’ tumour (nephroblastoma). The term ‘botryoid’ describes an intrapelvic polypoid renal Wilms tumour, either extending from the renal parenchyma or primarily pelvis-based tumour. Both tumours filled the renal pelvis and extended down the proximal ureter, with no intraparenchymal tumour seen. Bilateral intralobar nephrogenic rests were present. Histological examination demonstrated triphasic nephroblastoma, with focal rhabdomyomatous differentiation of the stromal element bilaterally. Postchemotherapy, the patient underwent bilateral nephrectomy. Post complete resection of her bilateral disease, this patient has had an excellent outcome. This is only the third reported case of bilateral botryoid Wilms’ tumour. While the condition is extremely rare, it should be included in the differential diagnosis of a young child with bilateral renal pelvic masses. PMID:22962373

Conlon, Niamh; Teoh, Chia Wei; Pears, Jane; O’Sullivan, Maureen

2012-01-01

265

Symptomatic bilateral testicular metastasis from carcinoma of the prostate  

PubMed Central

A man in his late 70s, on hormonal treatment for prostatic adenocarcinoma, presented with bilateral enlarged and painful testes. Bilateral orchidectomy was undertaken and subsequent histological examination revealed both testes completely infiltrated with metastatic prostatic carcinoma. PMID:23563685

Upchurch, Emma Ann; Khan, Faisal; Okeke, Aloysius

2013-01-01

266

CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation  

Microsoft Academic Search

Microcephaly, mental retardation and congenital retinal folds along with other systemic features have previously been reported\\u000a as a separate clinical entity. The sporadic nature of the syndrome and lack of clear inheritance patterns pointed to a genetic\\u000a heterogeneity. Here, we report a genetic analysis of a female patient with microcephaly, congenital bilateral falciform retinal\\u000a folds, nystagmus, and mental retardation. Karyotyping

Arijit Mukhopadhyay; Jamie M. Kramer; Gerard Merkx; Dorien Lugtenberg; Dominique F. Smeets; Merel A. W. Oortveld; Ellen A. W. Blokland; Jyoti Agrawal; Annette Schenck; Hans van Bokhoven; Erik Huys; Eric F. Schoenmakers; C. Erik van Nouhuys; Frans P. M. Cremers

2010-01-01

267

Reproductive disturbances in multiple neuroendocrine tumor syndromes.  

PubMed

In the context of multiple neuroendocrine tumor syndromes, reproductive abnormalities may occur via a number of different mechanisms, such as hyperprolactinemia, increased GH/IGF-1 levels, hypogonadotropic hypogonadism, hypercortisolism, hyperandrogenism, hyperthyroidism, gonadotropin hypersecretion, as well as, tumorigenesis or functional disturbances in gonads or other reproductive organs. Precocious puberty and/or male feminization is a feature of McCune-Albright syndrome (MAS), neurofibromatosis type 1 (NF1), Carney complex (CNC), and Peutz-Jeghers syndrome (PJS), while sperm maturation and ovulation defects have been described in MAS and CNC. Although tumorigenesis of reproductive organs due to a multiple neuroendocrine tumor syndrome is very rare, certain lesions are characteristic and very unusual in the general population. Awareness leading to their recognition is important especially when other endocrine abnormalities coexist, as occasionally they may even be the first manifestation of a syndrome. Lesions such as certain types of ovarian cysts (MAS, CNC), pseudogynecomastia due to neurofibromas of the nipple-areola area (NF1), breast disease (CNC and Cowden disease (CD)), cysts and 'hypernephroid' tumors of the epididymis or bilateral papillary cystadenomas (mesosalpinx cysts) and endometrioid cystadenomas of the broad ligament (von Hippel-Lindau disease), testicular Sertoli calcifying tumors (CNC, PJS) monolateral or bilateral macroochidism and microlithiasis (MAS) may offer diagnostic clues. In addition, multiple neuroendocrine tumor syndromes may be complicated by reproductive malignancies including ovarian cancer in CNC, breast and endometrial cancer in CD, breast malignancies in NF1, and malignant sex-cord stromal tumors in PJS. PMID:19737912

Lytras, Aristides; Tolis, George

2009-12-01

268

Case report Bilateral multilocular cystic nephromas: a rare occurrence  

Microsoft Academic Search

We present a rare case of bilateral renal cystic tumours in an 18-month-old female child, which proved to be cystic nephromas on imaging and histopathology. Although unilateral cystic nephromas are known in children; the occurrence of bilateral tumours is rare. Cystic nephroma, also called multilocular cystic nephroma is a rare renal neoplasm. Bilateral cystic nephromas are much rarer. In fact,

K S SODHI; S SURI; R SAMUJH; K L N RAO; K VAIPHEI; A K SAXENA

269

Metachronous bilateral mucoepidermoid carcinoma of the parotid gland.  

PubMed

We report a very rare case of bilateral muco-epidermoid carcinoma of the parotid gland that underwent bilateral parotidectomy with neck dissections and radiotherapy. This case has done well for three years and suggests that metachronous bilateral mucoepidermoid carcinoma of the parotid gland, if treated as per the merits of each side, has a reasonable survival. PMID:23120553

Muthusami, John C; Gaikwad, Pranay; Raj, John P; Abraham, Deepak T; Thomas, Meera; Cornerstone, Veracious

2008-09-01

270

Wall-eyed bilateral internuclear ophthalmoplegia: review of pathogenesis, diagnosis, prognosis and management.  

PubMed

Wall-eyed bilateral internuclear ophthalmoplegia (WEBINO) is an uncommon disorder of ocular motility that possesses a unique spectrum of clinical findings, consisting of primary gaze exotropia, adduction impairment and nystagmus of the abducting eye. WEBINO is a variant of internuclear ophthalmoplegia (INO) sharing similar pathophysiology and aetiologies. Much of the literature published on internuclear ophthalmoplegia and its variants focuses on aetiology and pathophysiology, whereas there has been less information addressing prognosis and management. This review will provide current perspectives on the pathogenesis, prognosis and management of WEBINO syndrome. PMID:25308307

Wu, Yu-Tai; Cafiero-Chin, Malinda; Marques, Cathy

2015-01-01

271

Benign metachronous bilateral ovarian and mediastinal teratomas with an elevated alpha-fetoprotein.  

PubMed

Teratomas are a common form of non-seminomatous germ cell tumor histologically composed of tissues derived from multiple cell lines of the primary embryonic germ cell layers. There are few cases reported in the literature that describe multiple locations with recurrence of benign teratomas, none of which describe an elevated AFP. We describe a case of metachronous bilateral recurrent ovarian and mediastinal teratomas with a curiously elevated ?-fetoprotein. We may be describing a novel syndrome of recurrent metachronous teratomas. Because of the uncertainty of this case, the patient will require close follow-up over the next several years. PMID:25742836

Caposole, Michael Z; Aruca-Bustillo, Veronica; Mitchell, Mark; Nam, Brian

2015-03-01

272

Pathological gambling, delusional parasitosis and adipsia as a post-haemorrhagic syndrome: A case report  

Microsoft Academic Search

The authors describe the case of a 70-year-old male who developed a peculiar syndrome characterized by pathological gambling (PG), delusional parasitosis and adipsia with mild frontal symptoms. Onset of the syndrome followed a cerebral haematoma involving hypothalamic and bilateral ventromedial prefrontal areas. The potential manifestation of PG following a lesion in the above areas may contribute towards furthering the understanding

Gianluca Floris; Antonino Cannas; Monica Melis; Paolo Solla; Maria Giovanna Marrosu

2008-01-01

273

Surgical management of the adrenal glands in the multiple endocrine neoplasia type II syndrome  

Microsoft Academic Search

During a 30-year period (1951–1981), seventeen patients underwent bilateral adrenalectomy for established adrenal medullary disease with catecholamine excess. Fourteen patients had the MEN IIa syndrome and 3 had the MEN IIb syndrome. There was no major operative morbidity and no operative mortality.

Jon A. van Heerden; Glen W. Sizemore; J. Aidan Carney; Clive S. Grant; William H. ReMine; Sheldon G. Sheps

1984-01-01

274

Food-Dependent Cushing's Syndrome: Possible Involvement of Leptin in Cortisol Hypersecretion  

Microsoft Academic Search

Stimulation of cortisol secretion by food intake has been implicated in the pathogenesis of some cases of ACTH-independent Cushing's syndrome, via an aberrant response of the adrenal glands to gastric inhibitory polypeptide (GIP). We report here a novel case of food- dependent Cushing's syndrome in a patient with bilateral ma- cronodular adrenal hyperplasia. In this patient we were able to

FRANCOIS P. PRALONG; FULGENCIO GOMEZ; LOUIS GUILLOU; FRANCOIS MOSIMANN; SEBASTIANO FRANSCELLA; ROLF C. GAILLARD

2010-01-01

275

Syndrome of polydactyly, cleft lip, lingual hamartomas, renal hypoplasia, hearing loss, and psychomotor retardation: variant of the Mohr syndrome or a new syndrome?  

Microsoft Academic Search

Three sibs, the proband and two monozygotic twins, have a condition including mental retardation, postnatal somatic retardation, preaxial polydactyly of the feet, bifid third metacarpal, median cleft lip, fatty hamartomas on the dorsum of the tongue, conductive hearing loss, and unilateral or bilateral renal agenesis. This probably autosomal recessive syndrome could be a further example of the condition described by

J F Mattei; S Aymé

1983-01-01

276

MRI diagnosis of bilateral adrenal vein thrombosis.  

PubMed

We report a case of bilateral adrenal vein thrombosis in an adult female who had a history of breast cancer. The patient does not have clinical, serological or imaging evidence of metastatic disease 14 months from the initial diagnosis. Adrenal vein thrombosis is a rare entity. There have been no previous reports specifically stating an association between adrenal vein thrombosis and hypercoaguability, but there are many cases in the literature documenting venous thrombosis elsewhere within the body in patients with hypercoaguable states. Laboratory testing performed to exclude a hypercoaguable state, revealed heterozygosity for the Factor V Leiden mutation/activated protein C resistance and elevated factor VIII levels [3660 IU l(-1) (<1500)]. This is the first reported case of bilateral metachronous adrenal vein thrombosis in which MRI established the diagnosis. PMID:12893701

Ryan, M F; Murphy, J P; Jay, R; Callum, J; MacDonald, D

2003-08-01

277

Bilateral breast cancer after cured Hodgkin's disease  

SciTech Connect

Three patients developed bilateral breast cancer at 10 to 24 years after mantle irradiation for locally or systemically advanced Hodgkin's disease (HD). Four of the six cancers in the three patients were detected only by mammography. Pathologically, five of the cancers were intraductal carcinomas (four with an invasive component) with one being a lobular carcinoma. Five of the six lesions were Stage I pathologically without evidence of axillary nodal involvement. It is recommended that female patients with Hodgkin's disease who have received mantle irradiation as part of the therapy for their Hodgkin's disease and who are observed for 10 or more years after completion of mantle irradiation be considered at risk for the development of breast cancer. Such patients should be monitored appropriately by routine bilateral mammograms to increase the early detection of early stage lesions.

Anderson, N.; Lokich, J. (New England Baptist Hospital, Boston, MA (USA))

1990-01-15

278

Bilateral asymmetric supernumerary heads of biceps brachii  

PubMed Central

Anatomical variations of the biceps brachii have been described by various authors, but the occurrence of bilateral asymmetric supernumerary heads is rare and has not been reported. We found three accessory heads of the biceps brachii muscle on right arm and an anomalous third head of biceps brachii on left arm. The third, fourth, and fifth heads of right arm originated from the body of humerus at the insertion site of coracobrachialis and inserted into the distal part of biceps brachii short head in order. The third head of left arm originated from humerus at the insertion site of coracobrachialis and combined with the distal part of biceps brachii and continued to the proximal part of common biceps tendon. Understanding the existence of bilateral asymmetric supernumerary heads of biceps brachii may influence preoperative diagnosis and surgery on the upper limbs. PMID:22025976

Lee, Song Eun; Jung, Chaeyong; Ahn, Kyu Youn

2011-01-01

279

Bilateral psoas abscess in the emergency department.  

PubMed

We present the case of a 45-year-old female who presented multiple times to the emergency department with acute low back pain and was subsequently diagnosed with bilateral psoas muscle abscess. Psoas abscess is an uncommon cause of acute low back pain that is associated with high morbidity and mortality. The onset of symptoms is frequently insidious and the clinical presentation vague. Proper diagnosis requires vigilance of the physician to recognize signs in the history and physical examination that are suggestive of a potentially serious spinal condition and initiate further workup. While most patients with acute low back pain have a benign etiology, this case report demonstrates the challenge of diagnosing a patient with bilateral psoas abscess who had few known risk factors and symptoms typical of mechanical low back pain. PMID:20046252

Tomich, Eric B; Della-Giustina, David

2009-11-01

280

Bilateral Psoas Abscess in the Emergency Department  

PubMed Central

We present the case of a 45-year-old female who presented multiple times to the emergency department with acute low back pain and was subsequently diagnosed with bilateral psoas muscle abscess. Psoas abscess is an uncommon cause of acute low back pain that is associated with high morbidity and mortality. The onset of symptoms is frequently insidious and the clinical presentation vague. Proper diagnosis requires vigilance of the physician to recognize signs in the history and physical examination that are suggestive of a potentially serious spinal condition and initiate further workup. While most patients with acute low back pain have a benign etiology, this case report demonstrates the challenge of diagnosing a patient with bilateral psoas abscess who had few known risk factors and symptoms typical of mechanical low back pain. PMID:20046252

Tomich, Eric B.; Della-Giustina, David

2009-01-01

281

Bilateral pulmonary sequestration in the elderly adult  

PubMed Central

Pulmonary sequestration (PS) is a rare malformation consisting of aberrant lung tissue which is not affiliated with the normal bronchial system and is fed by an aberrant artery that derives from systemic arteries. However, PS is usually seen unilaterally but, only rarely, it is bilateral. Most patients with PS are diagnosed because of symptoms due to pulmonary infection or cardiac disease, while a small portion of patients are asymptomatic and diagnosed incidentally. In this report, we present an extremely rare case of asymptomatic bilateral PS which was diagnosed at advanced age. To our knowledge, this case represents the oldest patient in the literature, and the second case that was diagnosed in a patient over the age of 50. PMID:23088281

2012-01-01

282

Multiple cavitations in posterior reversible leukoencephalopathy syndrome associated with hemolytic-uremic syndrome.  

PubMed

We describe a 4-year-old boy with posterior reversible leukoencephalopathy syndrome associated with hemolytic-uremic syndrome. He exhibited bloody stool by Escherichia coli O157: H7 infection with acute renal failure. He subsequently presented high blood pressure, followed by visual disturbance and loss of consciousness. Brain MRI revealed bilateral occipital high intensities by T2-weighted images and high value by apparent diffusion coefficient map, thus we made a diagnosis of posterior reversible leukoencephaly syndrome associated with hemolytic-uremic syndrome. In spite of immediate blood pressure control, occipital lesions developed day by day, resulting in multiple subcortical cavitations. Although posterior reversible leukoencephalopathy syndrome is originally characterized by reversible vasogenic edema, this case rarely resulted in irreversible changes with cystic formation. We concluded that precipitating factors, i.e., clotting abnormalities, Shiga toxin, vasospasms and endothelial dysfunction might have synergistically induced irreversible brain infarcts, and caused unusual cavitations. PMID:21723058

Fujii, Katsunori; Matsuo, Kaoru; Takatani, Tomozumi; Uchikawa, Hideki; Kohno, Yoichi

2012-04-01

283

Cushing's Syndrome  

MedlinePLUS

... fail, surgical removal of the adrenal glands, called bilateral adrenalectomy, may replace drug therapy. Adrenal Tumors Surgery ... Development Research at NIDDK Research Resources Technology Advancement & Transfer Meetings & Events Health Information Health Topics La Información ...

284

Anti-aquaporin-4 antibody-positive dorsal midbrain syndrome.  

PubMed

Neuromyelitis optica spectrum disorders (NMOSD) can cause various ocular motor disorders in addition to optic neuritis. Ocular motor findings associated with NMOSD include spontaneous vertical and gaze-evoked nystagmus, wall-eyed bilateral internuclear ophthalmoplegia, and trochlear nerve palsy. The association between dorsal midbrain syndrome and anti-aquaporin-4 antibody seropositivity has not been reported. Here, we report a patient displaying typical dorsal midbrain syndrome and anti-aquaporin-4 antibody seropositivity. PMID:25013154

Lee, Juyoun; Jeong, Seong-Hae; Park, Sang Min; Sohn, Eun Hee; Lee, Ae Young; Kim, Jae-Moon; Jo, Hyun-Jin; Lee, Yeon-Hee; Kim, Ji-Soo

2015-04-01

285

Bilateral Filtering for Gray and Color Images  

Microsoft Academic Search

Proceedings of the 1998IEEE InternationalConference on Computer Vision, Bombay,IndiaBilateral filtering smooths images while preservingedges, by means of a nonlinear combination of nearbyimage values. The method is noniterative, local, and simple.It combines gray levels or colors based on both theirgeometric closeness and their photometric similarity, andprefers near values to distant values in both domain andrange. In contrast with filters that operate

Carlo Tomasi; Roberto Manduchi

1998-01-01

286

Bilateral motor unit synchronization is functionally organized  

Microsoft Academic Search

To elucidate the neural interactions underlying bimanual coordination, we investigated in 11 participants the bilateral coupling\\u000a of homologous muscles in an isometric force production task involving fatiguing elbow flexion and extension. We focused on\\u000a changes in motor unit (MU) synchronization as evident in EMG recordings of relevant muscles. In contrast to a related study\\u000a on leg muscles, the arm muscles

T. W. Boonstra; A. Daffertshofer; E. van As; S. van der Vlugt; P. J. Beek

2007-01-01

287

Ovarian Remnant with Bilateral Duplicate Ureters  

Microsoft Academic Search

A 27-year-old woman had a history of acute chronic pelvic pain. She had had a previous salpingo-oophorectomy for an endometrioma. A computerized tomographic scan showed a left adnexal mass. She was known to have bilateral duplicate ureters shown on intravenous pyelogram. She underwent laparoscopy and retroperitoneal dissection of endometriosis with excision of the mass from the pelvic sidewall. The final

Thomas L. Lyons; Allyson J. Adolph; Wendy K. Winer

2003-01-01

288

Bilateral Pregnancy Luteoma: A Case Report  

PubMed Central

Pregnancy luteoma is a non-neoplastic lesion of the ovary occurring during pregnancy and is usually discovered incidentally at the time of a cesarean section or during postpartum tubal ligation. An accurate diagnosis is important for the mother and the fetus as it can be confused with ovarian malignancy leading to unnecessary surgery. We report a case of a pregnant female who was discovered to have bilateral enlarged ovaries at the time of emergency cesarean section. PMID:25337317

Nanda, Annu; Gokhale, Uday A.; Pillai, G Rajasekharan

2014-01-01

289

Psychic akinesia following bilateral pallidal lesions.  

PubMed

After suffering a carbon monoxide intoxication, a thirty-nine-year-old patient presented a marked behavioral change, with a severe anterograde and retrograde amnesia, extreme placidity, bulimia, and hypersexuality. This picture lasted for twenty days. Placidity and anterograde amnesia persisted, while marked psychic akinesia and abnormal involuntary movements soon appeared. A CT scan disclosed bilateral low density lesions involving the pallidum. The patient showed marked improvement after treatment with bromocriptine. PMID:2681027

Starkstein, S E; Berthier, M L; Leiguarda, R

1989-01-01

290

[Diagnostic and therapeutic problems of bilateral carotid-cavernous sinus fistula].  

PubMed

Carotid-cavernous sinus fistula is an abnormal connection between the internal carotid artery, external one or their meningeal branches and the sinus cavernous. It can be the spontaneous or post-traumatic pathology. The main clinical syndrome is Dandy's triad: pulsating exophthalmia, chemosis, bruit in the region of orbit. These syndromes appear in the case of the most frequent direct carotid-cavernous sinus fistula (type-A in Barrow classification). Indirect carotid-cavernous sinus fistulas are significantly more uncommon and the symptoms can be atypical and less intensive. It makes difficulties in establishing the right diagnosis. The case report concerns the occurrence of bilateral carotid-cavernous sinus fistula, supplying by numerous arteries, with atypical clinical picture. PMID:24964514

Bilbin-Bukowska, Anna; Stepie?, Adam; Brzozowski, Krzysztof; Piasecki, Piotr; Skrobowska, Ewa

2014-05-01

291

[Clinical features of bilateral trigeminal neuralgia].  

PubMed

Among 238 patients with bilateral trigeminal neuralgia(TN)who visited our hospital between April 2007 and June 2014, 5(2%)were surgically treated by microvascular decompression(MVD). The initial symptom was on the right side in four and on both sides in one patient. Intervals between the initial and second onset on the other side(left)were two months, and four, six, and eight years. None of the patients showed involvement of the first branch of the trigeminal nerve. The patients with bilateral TN were younger than the 154 patients with unilateral TN who were treated surgically by MVD in this period(45 vs. 65 years), and the bilateral TN patients predominantly were women(4/5 vs. 99/154). In the surgical field, the trigeminal nerve and root entry zone were compressed more by veins in the bi lateral TN patients than in the unilateral TN(4/5 vs. 60/154, respectively)patients. We could not identify any differences in MRI CISS before versus after the onset of left trigeminal neuralgia, suggesting that compression is not the sole cause of the symptom. PMID:25672553

Yokosako, Suguru; Takahashi, Yuichi; Kikuchi, Asami; Yoshimura, Chika; Arai, Naoyuki; Ohbuchi, Hidenori; Hirota, Kengo; Hagiwara, Shinji; Tani, Shigeru; Sasahara, Atsushi; Kasuya, Hidetoshi

2015-02-01

292

Bilateral leg edema in an older woman.  

PubMed

Bilateral leg edema is a frequent symptom in older people and an important concern in geriatric medicine. Further evaluation is frequently not performed and simple therapy with diuretics is prescribed. Particularly in older patients, long-term use of diuretics can lead to severe electrolyte imbalances, volume depletion, and falls. In this case report we want to focus the physicians' attention on the necessity to determine the cause and show a correspondingly effective treatment for bilateral leg edema in older people. A thorough approach is required to recognize diseases and to avoid adverse drug events as geriatric patients often show an atypical presentation or minor symptoms. The cause of swollen legs is often multifactorial; therefore, the patient's individual history and an appropriate physical examination are important. Depending on the clinical symptoms, evaluation including basic laboratory tests, urinalysis, chest radiography, and echocardiogram may be indicated. The most probable cause of bilateral edema in older patients is chronic venous insufficiency. Heart failure is also a common cause. Other systemic causes such as renal disease or liver disease are much rarer. Antihypertensive and anti-inflammatory drugs can frequently cause leg edema, but the incidence of drug-induced leg swelling is unknown. With the help of this special case we tried to develop an approach to the diagnosis of symmetric leg edema in older patients, a problem frequently neglected in geriatric medicine. PMID:24271146

Thaler, H W; Pienaar, S; Wirnsberger, G; Roller-Wirnsberger, R E

2015-01-01

293

Bilateral orbital complications of paediatric rhinosinusitis  

PubMed Central

Background The spread of infection from the ethmoid sinuses to the orbit occurs directly through a congenital dehiscence of the lamina papyracea or via haematogenous spread through ophthalmic venous system. Hence orbital complications of paediatric rhinosinusitis are usually unilateral at presentation. Methods We describe three children with bilateral orbital cellulitis that occurred as a complication of rhinosinusitis without intracranial spread of the infection. The children ranged in the age group from 4 to 7 years. All these children had a prolonged hospital stay from 14 to 25 days and underwent multiple surgical procedures to drain the subperiosteal abscess. These children presented to the hospital with bilateral orbital cellulitis without significant past history. All of them on radiological evaluation showed subperiosteal abscess involving only one orbit. They were taken up for functional endoscopic sinus surgery and the subperiosteal abscess was drained endoscopically with partial removal of lamina papyracea. One case required second surgery despite good recovery for two days post first surgery. Result and conclusion Two cases had severe unilateral visual loss at presentation but both recovered dramatically after the surgery. All cases had uneventful recovery with no residual disability. The purpose of this article is to discuss the reasons for bilateral orbital complications of rhinosinusitis at initial presentation despite the previous hypothesis of unilateral involvement. PMID:24623951

Singh, S.K.; James, E.; Sabarigirish, K.; Swami, H.; Sood, Tarun

2013-01-01

294

Bilateral limbic system destruction in man  

PubMed Central

We report here a case study of a rare neurological patient with bilateral brain damage encompassing a substantial portion of the so-called “limbic system.” The patient, Roger, has been studied in our laboratory for over 14 years and the current article presents his complete neuroanatomical and neuropsychological profiles. The brain damage occurred in 1980 following an episode of herpes simplex encephalitis. The amount of destroyed neural tissue is extensive and includes bilateral damage to core limbic and paralimbic regions, including the hippocampus, amygdala, parahippocampal gyrus, temporal poles, orbitofrontal cortex, basal forebrain, anterior cingulate cortex, and insular cortex. The right hemisphere is more extensively affected than the left, although the lesions are largely bilateral. Despite the magnitude of his brain damage, Roger has a normal IQ, average to above average attention, working memory, and executive functioning skills, and very good speech and language abilities. In fact, his only obvious presenting deficits are a dense global amnesia and a severe anosmia and ageusia. Roger's case presents a rare opportunity to advance our understanding of the critical functions underlying the human limbic system, and the neuropsychological and neuroanatomical data presented here provide a critical foundation for such investigations. PMID:19763994

Feinstein, Justin S.; Rudrauf, David; Khalsa, Sahib S.; Cassell, Martin D.; Bruss, Joel; Grabowski, Thomas J.; Tranel, Daniel

2010-01-01

295

Bilateral elastofibroma dorsi: A case report  

PubMed Central

INTRODUCTION Elastofibroma dorsi(EFD) is slow-growing, benign, soft tissue tumor of unclear pathogenesis, typically located at the subscapular region of elderly people. It may be unilateral or bilateral. As it exhibits benign behavior, it should be surgically removed only in symptomatic patients. Magnetic resonance imaging (MRI) is a useful tool for assessment of EFD and can potentially help avoid the need for unnecessary biopsy and surgery. PRESENTATION OF CASE A 62-year-old woman presented with 2 years complaint of back pain, particularly aggravated with shoulder movements and swelling with bilateral elastofibroma dorsi. Both masses were totally excised with bilateral posterolateral subscapular incision. Symptoms were completely controlled and significant discomfort from the surgical procedure was completely resolved with in a few weeks interval from the operation. DISCUSSION The pathogenesis of the EFD still remains unclear. Elastofibroma dorsi has an unspecific clinical presentation and can be confused with other tumors of the periscapular region Imaging studies are useful for diagnosis. CONCLUSION Elastofibroma dorsi is benign soft tissue tumor mostly observed in the subscapular regions of elderly female patients. The surgery is indicated in symptomatic cases and must be confined to simple excision of the lesion. PMID:25437657

Sarici, Inanc Samil; Basbay, Elif; Mustu, Mehdi; Eskut, Burak; Kala, Ferhat; Agcaoglu, Orhan; Akici, Murat; Ozkurt, Enver

2014-01-01

296

High Performance, Three-Dimensional Bilateral Filtering  

SciTech Connect

Image smoothing is a fundamental operation in computer vision and image processing. This work has two main thrusts: (1) implementation of a bilateral filter suitable for use in smoothing, or denoising, 3D volumetric data; (2) implementation of the 3D bilateral filter in three different parallelization models, along with parallel performance studies on two modern HPC architectures. Our bilateral filter formulation is based upon the work of Tomasi [11], but extended to 3D for use on volumetric data. Our three parallel implementations use POSIX threads, the Message Passing Interface (MPI), and Unified Parallel C (UPC), a Partitioned Global Address Space (PGAS) language. Our parallel performance studies, which were conducted on a Cray XT4 supercomputer and aquad-socket, quad-core Opteron workstation, show our algorithm to have near-perfect scalability up to 120 processors. Parallel algorithms, such as the one we present here, will have an increasingly important role for use in production visual analysis systems as the underlying computational platforms transition from single- to multi-core architectures in the future.

Bethel, E. Wes

2008-06-05

297

Multilateral, regional and bilateral energy trade governance  

SciTech Connect

The current international energy trade governance system is fragmented and multi-layered. Streamlining it for greater legal cohesiveness and international political and economic cooperation would promote global energy security. The current article explores three levels of energy trade governance: multilateral, regional and bilateral. Most energy-rich countries are part of the multilateral trading system, which is institutionalized by the World Trade Organization (WTO). The article analyzes the multilateral energy trade governance system by focusing on the WTO and energy transportation issues. Regionally, the article focuses on five major regional agreements and their energy-related aspects and examines the various causes that explain the proliferation of regional trade agreements, their compatibility with WTO law, and then provides several examples of regional energy trade governance throughout the world. When it comes to bilateral energy trade governance, this article only addresses the European Union’s (EU) bilateral energy trade relations. The article explores ways in which gaps could be filled and overlaps eliminated whilst remaining true to the high-level normative framework, concentrating on those measures that would enhance EU energy security.

Leal-Arcas, Rafael; Grasso, Costantino; Rios, Juan Alemany (Queen Mary Univ. of London (United Kingdom))

2014-12-01

298

Unilateral versus bilateral clubfoot: an analysis of severity and correlation.  

PubMed

This study compares the severity of unilateral and bilateral clubfoot, and the correlation between right and left feet of bilateral cases. Sixty-six unilateral and 75 bilateral clubfoot patients were assessed for severity using the Pirani score at an average age of 12.9 days (SD 9 days). In bilateral cases, the severity of right and left feet was highly correlated (r=0.68). The odds of being very severe were 2.6 (95% confidence interval 1.3-5.1) times higher in bilateral cases (P=0.007). Bilateral and unilateral clubfeet present with differing severity. Right and left feet from bilateral cases are highly correlated. Researchers need to address these issues during study design and analysis. PMID:24869905

Gray, Kelly; Barnes, Elizabeth; Gibbons, Paul; Little, David; Burns, Joshua

2014-09-01

299

Becker's Nevus Syndrome  

PubMed Central

Becker's nevus is a cutaneous hamartoma characterized by circumscribed hyperpigmentation with hypertrichosis. Becker's nevus syndrome is an association of Becker's nevus with unilateral breast hypoplasia and muscle, skin, and/or skeletal abnormalities. We here report a case of a 15 year-old female who presented with bilateral Becker's nevus over her groins, thighs, vulva, and in front of the neck from the age of 5 years. She had associated mental retardation, delayed development of mile stones, delayed puberty, dwarfism, depressed nasal bridge, long slender digits, crowding of lateral toes, valgus deformity of first metatarsophalangeal joint, mitral valve prolapse, muddy conjunctiva with hypertrophic and hyperpigmented caruncle of both eyes, ichthyosis, brownish hair, and absence of axillary and pubic hair. On histopathological examination collagen hamartoma underneath the Becker's nevus was found. PMID:25071279

Dasegowda, Sathyanarayana B; Basavaraj, GB; Nischal, KC; Swaroop, MR; Umashankar, NP; Swamy, Suchetha S

2014-01-01

300

Management of Severe Bilateral Ureteropelvic Junction Obstruction in Neonates with Prenatally Diagnosed Bilateral Hydronephrosis  

PubMed Central

Purpose The management of prenatally detected bilateral ureteropelvic junction obstruction (UPJO) remains controversial. We attempted to develop a treatment plan for patients with severe bilateral UPJO. Materials and Methods We evaluated the records of 13 patients with prenatally diagnosed grade 3 or more bilateral hydronephrosis that led to the postnatal diagnosis of severe bilateral UPJO. Ultrasonography and 99mtechnetium mercaptoacetyltriglycine (99mTc-MAG3) renal scans were performed within 1 month. Four renal units had grade 3 and 22 had grade 4 hydronephrosis. All 13 patients were managed by unilateral pyeloplasty, and the patients' mean age was 3 months. At 1 month postoperatively, we decided whether delayed surgery in the opposite renal unit was necessary according to the findings of ultrasonography and 99mTc-MAG3 scans. Results Of 13 patients, 11 underwent initial pyeloplasty on renal units with more severe hydronephrosis or lower relative renal function (RRF) on 99mTc-MAG3 scans. The remaining 2 patients simultaneously underwent percutaneous nephrostomy on renal units with a lower RRF and initial pyeloplasty on renal units with a higher RRF. In 5 patients, contralateral hydronephrosis had spontaneously improved at 1 month postoperatively, and 8 patients underwent delayed contralateral pyeloplasty at 2 months postoperatively. Conclusions In children with severe bilateral UPJO, the non-operated renal units with grade 3 and some with grade 4 hydronephrosis improved spontaneously after unilateral pyeloplasty. Therefore, delayed pyeloplasty of the opposite side should be considered at 1 month following initial pyeloplasty. PMID:20856652

Kim, Jongwon; Hong, Sungwoo; Park, Chang Hoo; Park, Hongzoo

2010-01-01

301

Marfan Syndrome  

MedlinePLUS

... doctors discovered a connective tissue disorder known as Loeys-Dietz syndrome, which has several characteristics that overlap with those ... the two is different. A diagnostic test for Loeys-Dietz syndrome is available. What Types of Doctors Treat Marfan ...

302

Morquio syndrome  

MedlinePLUS

Morquio syndrome is an inherited disease of metabolism in which the body is missing or doesn't have ... Morquio syndrome is an autosomal recessive trait. If both parents carry the defective gene related to this condition, ...

303

Reye Syndrome  

MedlinePLUS

... What to Expect Reye Syndrome KidsHealth > Parents > Infections > Bacterial & Viral Infections > Reye Syndrome Print A A A ... include: frequent vomiting tiredness or sleepiness in babies, diarrhea and rapid breathing irritability or aggressive behavior Other ...

304

Myelodysplastic Syndromes  

MedlinePLUS

... with blood clotting. If you have a myelodysplastic syndrome, the stem cells do not mature into healthy ... lead to infection, anemia, or easy bleeding. Myelodysplastic syndromes often do not cause early symptoms and are ...

305

Down Syndrome  

MedlinePLUS

... Digestive System How the Body Works Main Page Down Syndrome KidsHealth > Kids > Health Problems > Birth Defects & Genetic Problems > ... skills. Continue Do a Lot of People Have Down Syndrome? About 1 out of every 800 babies born ...

306

Klinefelter Syndrome  

MedlinePLUS

... Information Clinical Trials Resources and Publications Klinefelter Syndrome (KS): Condition Information Skip sharing on social media links Share this: Page Content What is KS? The term "Klinefelter (pronounced KLAHYN-fel-ter ) syndrome," ...

307

Tourette Syndrome  

MedlinePLUS

If you have Tourette syndrome, you make unusual movements or sounds, called tics. You have little or no control over them. Common tics ... words, spin, or, rarely, blurt out swear words. Tourette syndrome is a disorder of the nervous system. ...

308

Sotos Syndrome  

MedlinePLUS

NINDS Sotos Syndrome Information Page Synonym(s): Cerebral Gigantism Table of Contents (click to jump to sections) What is Sotos Syndrome? Is there any treatment? What is the prognosis? What research is ...

309

Association of Nasal Nostril Stenosis with Bilateral Choanal Atresia: A Case Report  

PubMed Central

Introduction: Neonatal nasal airway obstruction induces various degrees of respiratory distress. The management of this disease, including surgical repair, will depend on the severity and location of the obstruction. We describe here a case of congenital nasal nostril stenosis that required surgical repair for stenting of both nares after coanal atresia repair. Case Report: A 2 days old female newborn referred to neonatal department of Tabriz Children’s Hospital affiliated to the University of Medical Sciences of Tabriz, Iran on the 3rd of December, 2011 immediately after birth with respiratory distress due to bilateral coanal atresia and nasal hypoplasia with very small nostrils. CT scan showed normal brain and bilateral choanal atresia with normal size Pyriform apertures. Conclusion: Nasal obstruction can lead to airway compromise and respiratory distress. Congenital bony nasal deformities are being recognized as an important cause of newborn airway obstruction. Nasal hypoplasia is seen in many craniofacial syndromes. Although our patient had hypoplastic nostrils with respiratory distress due to bilateral coanal atresia, correction of hypoplastic nostrils was necessary for completing the operation of choanal atresia. PMID:24505574

Abdollahifakhim, Shahin; Mousaviagdas, Mehrnoush

2014-01-01

310

Sotos syndrome: An interesting disorder with gigantism  

PubMed Central

We report the case of a 16-year-old boy diagnosed to have Sotos syndrome, with rare association of bilateral primary optic atrophy and epilepsy. He presented with accelerated linear growth, facial gestalt, distinctive facial features, seizures and progressive diminution of vision in both eyes. He had features of gigantism from early childhood. An MRI showed that brain and endocrine functions were normal. This case is of interest, as we have to be aware of this not so rare disorder. In addition to the classic features, there were two unusual associations with Sotos syndrome in the patient. PMID:19893668

Nalini, A.; Biswas, Arundhati

2008-01-01

311

Management of IRVAN syndrome with observation.  

PubMed

A 7-year-old girl with IRVAN (idiopathic retinal vasculitis, aneurysms, and neuroretinitis) syndrome was monitored for 9 years. The patient had symmetric multiple aneurysmal dilations, retinal vasculitis, and severe hard exudation in the macula bilaterally. Long-term visual acuity in her untreated right eye was 20/25. In the left eye, treated with laser panretinal photocoagulation and intravitreal vascular endothelial growth factor inhibitor therapy, visual acuity decreased to 20/200 from macular hard exudates and central fibrovascular tissue. Observation is a consideration in IRVAN syndrome if the vision remains good with hard exudation. PMID:24766157

Basha, Madhi; Brown, Gary C; Palombaro, Geremie; Shields, Carol L; Shields, Jerry A

2014-01-01

312

Ocular findings in arteriohepatic dysplasia (Alagille's syndrome).  

PubMed

The ocular findings in a father and two offspring with arteriohepatic dysplasia are reported in this paper. All three people had bilateral posterior embryotoxon, Axenfeld's anomaly and a pigmentary retinopathy. Other ocular findings were exotropia, an ectopic pupil, band keratopathy, choroidal folds, anomalous optic discs and infantile myopia. Persons with arteriohepatic dysplasia typically present with prolonged neonatal jaundice. Cognizance of the associated eye findings helps distinguish this syndrome from other types of familial intrahepatic cholestasis. PMID:6796244

Romanchuk, K G; Judisch, G F; LaBrecque, D R

1981-04-01

313

Hepatobiliary anomalies associated with polysplenia syndrome  

Microsoft Academic Search

The report of a 29-year-old woman with polysplenia syndrome, Crohn's disease, and bilateral cataracts is presented. The patient was noted to have a right-sided stomach and small bowel, Crohn's ileitis, and a left-sided colon. Results of roentgenography of the chest and echocardiography were consistent with a diagnosis of hypoplasia of the inferior vena cava with azygos continuation. The patient underwent

Michel Gagner; J. Lawrence Munson; Francis J. Scholz

1991-01-01

314

Imaging findings of Gorlin-Goltz syndrome  

PubMed Central

A 15-year-old girl was referred to a dentist complaining of parageusia, bad taste in the mouth, which started 9 months ago. Panoramic X-ray and non-enhanced computed tomography scan revealed multiple bilateral unilocular cysts in the mandible and maxilla, along with calcification of anterior part of the falx cerebri. She was eventually diagnosed with Gorlin-Goltz syndrome based on imaging and histopathologic finding of keratocystic odontogenic tumor. PMID:25610614

Hajalioghli, Parisa; Ghadirpour, Ali; Ataie-Oskuie, Reza; Kontzialis, Marinos

2015-01-01

315

Imaging findings of Gorlin-Goltz syndrome.  

PubMed

A 15-year-old girl was referred to a dentist complaining of parageusia, bad taste in the mouth, which started 9 months ago. Panoramic X-ray and non-enhanced computed tomography scan revealed multiple bilateral unilocular cysts in the mandible and maxilla, along with calcification of anterior part of the falx cerebri. She was eventually diagnosed with Gorlin-Goltz syndrome based on imaging and histopathologic finding of keratocystic odontogenic tumor. PMID:25610614

Hajalioghli, Parisa; Ghadirpour, Ali; Ataie-Oskuie, Reza; Kontzialis, Marinos; Nezami, Nariman

2015-01-01

316

Globus Pallidus Interna Deep Brain Stimulation in a Patient with Medically Intractable Meige Syndrome  

PubMed Central

Medical therapies in patients with Meige syndrome, including botulinum toxin injection, have been limited because of incomplete response or adverse side effects. We evaluated a patient with Meige syndrome who was successfully treated with deep brain stimulation (DBS) in the globus pallidus interna (GPi). This case report and other previous reports suggest that bilateral GPi DBS may be an effective treatment for medically refractory Meige syndrome, without significant adverse effects. PMID:25360233

Bae, Dae-Woong; Son, Byung-chul; Kim, Joong-Seok

2014-01-01

317

Down syndrome  

MedlinePLUS

Down syndrome is a genetic condition in which a person has 47 chromosomes instead of the usual 46. ... In most cases, Down syndrome occurs when there is an extra copy of chromosome 21. This form of Down syndrome is called Trisomy 21. ...

318

Aase syndrome  

MedlinePLUS

Aase-Smith syndrome; Hypoplastic anemia/Triphalangeal thumb syndrome ... Jones KL, ed. Aase syndrome. In: Smith's Recognizable Patterns Of Human Malformation. 6th ed. Saunders. 2005. Clinton C, Gazda HT. Diamond-Blackfan Anemia. 2009 Jun 25 [Updated 2013 Jul ...

319

Velocardiofacial Syndrome  

ERIC Educational Resources Information Center

Velocardiofacial syndrome (VCFS), also known as DiGeorge, conotruncal anomaly face, and Cayler syndromes, is caused by a microdeletion in the long arm of Chromosome 22. We review the history of the syndrome from the first clinical reports almost half a century ago to the current intriguing molecular findings associating genes from the…

Gothelf, Doron; Frisch, Amos; Michaelovsky, Elena; Weizman, Abraham; Shprintzen, Robert J.

2009-01-01

320

Rowell syndrome  

PubMed Central

Rowell syndrome is a rare disease consisting of erythema multiforme-like lesions associated with lupus erythematosus. The syndrome occurs mostly in middle-aged women. The authors describe the syndrome in a 15-year-old boy who responded well to systemic steroids and hydroxychloroquine. PMID:25506561

Bhat, Ramesh Y; Varma, Chaitanya; Bhatt, Sonia; Balachandran, C

2014-01-01

321

The Alström syndrome: ophthalmic histopathology and retinal ultrastructure  

Microsoft Academic Search

A case of pigmentary retinal degeneration causing blindness in early childhood, progressive neurosensory hearing loss, diabetes mellitus, acanthosis nigricans, hypogonadism with normal secondary sex characteristics, and kyphoscoliosis without polydactyly and with no mental retardation is reported. The results of endocrinological studies, karyotype analysis, and digital dermatoglyphics supported the clinical diagnosis of the Alström syndrome. The patient had small globes, bilateral

J Sebag; D M Albert; J L Craft

1984-01-01

322

Status epilepticus in a child with Sanjad Sakati syndrome  

PubMed Central

We report a 6-year-old boy who presented with status epilepticus, who had facial dysmorphism, growth and mental retardation. On investigation, he had hypocalcaemia, hypoparathyroidism and bilateral calcification of basal ganglia in cranial tomographs; features consistent with Sanjad Sakati syndrome. He was treated with intravenous calcium gluconate initially followed by oral calcium and calcitriol and recovered completely. PMID:23378547

Prasad, Rajniti; Kumari, Chhaya; Mishra, Om Prakash; Singh, Utpal Kant

2013-01-01

323

Segmental vitiligo in a patient with thoracic outlet syndrome.  

PubMed

Reported here is a 35-year-old man with findings of thoracic outlet syndrome and bilateral segmental vitiligo on C8-T1 dermatomes. The possible causal relationship between the two disorders under the common denominator of cervical sympathetic involvement is discussed for the first time in the literature. PMID:21800114

Kara, Murat; Y?lmaz, Sinan; Kara, Özgür; ?enol, Mehmet Güney; Özda?, Fatih; Özçakar, Levent

2012-09-01

324

Prune-belly anomalies in a girl with Down syndrome  

Microsoft Academic Search

We report the first case of a girl born to a diabetic mother who was found to have Down syndrome and prune-belly anomalies (bilateral gross hydronephrosis, megaureter, and megacystis with abdominal muscle deficiency). The girl also had an atrioventricular septal defect. Diagnoses were confirmed with a cytogenetic study and micturating cystourethrography. She died at 29 days of age with a sudden

Nafaa N. Al Harbi

2003-01-01

325

Dance Therapy with Physical Therapy for Children with Down Syndrome.  

ERIC Educational Resources Information Center

This study sought to investigate effects of a dance program on bilateral toe-standing balance and single-point static balance skills of a group of children with Down Syndrome. Thirteen experimental and 10 control group students between the ages of 3 and 13 years were assessed on toe-standing balance and single-point standing balance on the right…

Dupont, Blanche Burt; Schulmann, Diana

326

Prenatal diagnosis of bilateral ectrodactyly and radial agenesis associated with trisomy 10 mosaicism.  

PubMed

Ectrodactyly or split hand and foot malformations (SHFMs) are rare malformations of the limbs, characterized by median clefts of the hands and feet, syndactyly, and aplasia and/or hypoplasia of the phalanges. They represent a clinically and genetically heterogeneous disorder, with both sporadic and familial cases. Most of the genomic rearrangements identified to date in some forms of SHFM are autosomal dominant traits, involving various chromosome regions. Bilateral radial ray defects comprise also a large heterogenous group of disorders, including trisomy 18, Fanconi anemia, and thrombocytopenia-absent-radius syndrome, not commonly associated with ectrodactyly. The present paper describes a case of ectrodactyly associated with bilateral radial ray defects, diagnosed in the first trimester of pregnancy, in a fetus affected by trisomy 10. Only four cases of sporadic and isolated ectrodactyly, diagnosed by ultrasonography between 14 and 22 weeks' gestation, have been reported. To our knowledge, the present case is the first report of mosaic trisomy 10 associated with SHFM and radial aplasia. Trisomy 10 is a rare lethal chromosomal abnormality, most frequently found in abortion products. Only six liveborn mosaic trisomy 10 infants, with severe malformations, dead in early infancy, have been reported. A severe clinical syndrome can be defined, comprising ear abnormalities, cleft lip/palate, malformations of eyes, heart, and kidneys, and deformity of hands and feet and most often associated with death neonatally or in early infancy. PMID:23401811

Lévy, Jonathan; Jouannic, Jean-Marie; Saada, Julien; Dhombres, Ferdinand; Siffroi, Jean-Pierre; Portnoï, Marie-France

2013-01-01

327

Prenatal Diagnosis of Bilateral Ectrodactyly and Radial Agenesis Associated with Trisomy 10 Mosaicism  

PubMed Central

Ectrodactyly or split hand and foot malformations (SHFMs) are rare malformations of the limbs, characterized by median clefts of the hands and feet, syndactyly, and aplasia and/or hypoplasia of the phalanges. They represent a clinically and genetically heterogeneous disorder, with both sporadic and familial cases. Most of the genomic rearrangements identified to date in some forms of SHFM are autosomal dominant traits, involving various chromosome regions. Bilateral radial ray defects comprise also a large heterogenous group of disorders, including trisomy 18, Fanconi anemia, and thrombocytopenia-absent-radius syndrome, not commonly associated with ectrodactyly. The present paper describes a case of ectrodactyly associated with bilateral radial ray defects, diagnosed in the first trimester of pregnancy, in a fetus affected by trisomy 10. Only four cases of sporadic and isolated ectrodactyly, diagnosed by ultrasonography between 14 and 22 weeks' gestation, have been reported. To our knowledge, the present case is the first report of mosaic trisomy 10 associated with SHFM and radial aplasia. Trisomy 10 is a rare lethal chromosomal abnormality, most frequently found in abortion products. Only six liveborn mosaic trisomy 10 infants, with severe malformations, dead in early infancy, have been reported. A severe clinical syndrome can be defined, comprising ear abnormalities, cleft lip/palate, malformations of eyes, heart, and kidneys, and deformity of hands and feet and most often associated with death neonatally or in early infancy. PMID:23401811

Lévy, Jonathan; Jouannic, Jean-Marie; Saada, Julien; Dhombres, Ferdinand; Siffroi, Jean-Pierre; Portnoï, Marie-France

2013-01-01

328

A case of Ross syndrome presented with Horner and chronic cough  

PubMed Central

Ross syndrome is a rare sweating disorder associated with Adie's tonic pupil, decreased or diminished tendon reflex and unknown etiology. Although autonomic disturbances affecting sudomotor and vasomotor functions are seen commonly, they are rarely symptomatic. While Ross syndrome is typically characterized with dilated tonic pupil, it may be rarely manifested with miotic pupils (little old Adie's pupil), which can make diagnosis difficult. In this article, we aim to specify the atypical clinical manifestations of syndrome by means of Ross syndrome manifested by autonomic symptoms, Horner syndrome, chronic cough together with bilateral little old Adie's pupil. PMID:25288844

Baran, Aslihan; Balbaba, Mehmet; Demir, Caner F.; Özdemir, Hasan H.

2014-01-01

329

Wolfram syndrome maps to distal human chromosome 4p  

SciTech Connect

Wolfram syndrome (MIM 222300) is an autosomal recessive disorder defined by the occurrence of diabetes mellitus and progressive bilateral optic atrophy. Wolfram syndrome homozygotes develop widespread nervous system abnormalities; in particular, they exhibit severe behavioral difficulties that often lead to suicide attempts or psychiatric hospitalizations. The Wolfram syndrome gene also predisposes heterozygous carriers to psychiatric disorders. Since these heterozygotes are common in the general population, the Wolfram syndrome gene may contribute significantly to the overall burden of psychiatric illness. Based on a linkage analysis of 11 families segregating for this syndrome, using microsatellite repeat polymorphisms throughout the human genome, we found the Wolfram syndrome gene to be linked to markers on the short arm of human chromosome 4, with Zmax=6.46 at {theta}=0.02 for marker D4S431.

Polymeropoulos, M.H. [National Center for Human genome Research, Bethesda, MD (United States); Swift, R.; Swift, M. [New York Medical College, Hawthorne, NY (United States)

1994-09-01

330

A Neonate with CLOVES Syndrome  

PubMed Central

Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) syndrome is a recently delineated disorder that comprises vascular malformations (typically truncal), dysregulated adipose tissue, scoliosis, enlarged bony structures (typically of the legs) without progression, or distorting bony overgrowth. The name CLOVE was subsequently extended to CLOVES to emphasize the association with scoliosis/skeletal and spinal anomalies and seizures/central nervous system malformations. We herein report a very rare case of CLOVES syndrome with the findings of lipomatous overgrowth in the cheek (facial asymmetry), vascular malformation (hemangiomas), epidermal nevi (large port wine stains), and skeletal abnormalities (widened first interdigital space, dystrophia in the nail of the first digit of the right foot, and bilateral hypertrophy of the first digits of the feet). PMID:25400966

Akin, Mustafa Ali; Kurtoglu, Selim; Tubas, Filiz; Sarici, Serdar Umit

2014-01-01

331

A Neonate with CLOVES Syndrome.  

PubMed

Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) syndrome is a recently delineated disorder that comprises vascular malformations (typically truncal), dysregulated adipose tissue, scoliosis, enlarged bony structures (typically of the legs) without progression, or distorting bony overgrowth. The name CLOVE was subsequently extended to CLOVES to emphasize the association with scoliosis/skeletal and spinal anomalies and seizures/central nervous system malformations. We herein report a very rare case of CLOVES syndrome with the findings of lipomatous overgrowth in the cheek (facial asymmetry), vascular malformation (hemangiomas), epidermal nevi (large port wine stains), and skeletal abnormalities (widened first interdigital space, dystrophia in the nail of the first digit of the right foot, and bilateral hypertrophy of the first digits of the feet). PMID:25400966

Sarici, Dilek; Akin, Mustafa Ali; Kurtoglu, Selim; Tubas, Filiz; Sarici, Serdar Umit

2014-01-01

332

Mechanism of Highly Synchronized Bilateral Hippocampal Activity  

PubMed Central

In vivo studies of epileptiform discharges in the hippocampi of rodents have shown that bilateral seizure activity can sometimes be synchronized with very small delays (< 2 ms). This observed small time delay of epileptiform activity between the left and right CA3 regions is unexpected given the physiological propagation time across the hemispheres (> 6 ms). The goal of this study is to determine the mechanisms of this tight synchronization with in-vitro electrophysiology techniques and computer simulations. The hypothesis of a common source was first eliminated by using an in-vitro preparation containing both hippocampi with a functional ventral hippocampal commissure (VHC) and no other tissue. Next, the hypothesis that a noisy baseline could mask the underlying synchronous activity between the two hemispheres was ruled out by low noise in-vivo recordings and computer simulation of the noisy environment. Then we built a novel bilateral CA3 model to test the hypothesis that the phenomenon of very small left-to-right propagation delay of seizure activity is a product of epileptic cell network dynamics. We found that the commissural tract connectivity could decrease the delay between seizure events recorded from two sides while the activity propagated longitudinally along the CA3 layer thereby yielding delays much smaller than the propagation time between the two sides. The modeling results indicate that both recurrent and feedforward inhibition were required for shortening the bilateral propagation delay and depended critically on the length of the commissural fiber tract as well as the number of cells involved in seizure generation. These combined modeling/experimental studies indicate that it is possible to explain near perfect synchronization between the two hemispheres by taking into account the structure of the hippocampal network. PMID:24262205

Wang, Y.; Toprani, S.; Tang, Y.; Vrabec, T.; Durand, D.M.

2014-01-01

333

[Bilateral chorioretinitis after infection with Yersinia enterocolitica].  

PubMed

We report a case of severe, bilateral panuveitis with disseminated chorioretinis. With systemic steroid therapy the inflammation resolved within 4 weeks, resulting in chorioretinal scarring. Because the agglutination titer against Yersinia enterocolitica type 3 was increased to 6 times over normal, we consider Yersinia to be the most probable cause of the panuveitis. Concomitantly, serology revealed evidence for recent infection with mumps and shigella. Both can cause anterior uveitis. Therefore, we cannot exclude interactions, which may influence the clinical picture. After reviewing the literature we describe for the first time a case of chorioretinits and panuveitis associated with infection by Yersinia. PMID:1757029

Osusky, R; Kain, H L

1991-01-01

334

Very late relapse of bilateral retinoblastoma.  

PubMed

Retinoblastoma usually recurs within the first few years after treatment completion. We report a rare case of very late relapse in a 6-month-old girl who was diagnosed with bilateral retinoblastoma. The patient achieved first remission after treatment with neoadjuvant chemotherapy, enucleation of the right eye, local laser therapy of the left eye, and adjuvant chemotherapy. Extraocular relapse with multiple metastases occurred 13 years and 8 months after treatment. The patient is currently in second complete remission after receiving high-dose chemotherapy and autologous stem cell transplantation. In conclusion, long-term follow-up is needed for early detection of recurrent retinoblastoma. PMID:25757022

Choi, Jung Yoon; Kang, Hyoung Jin; Lee, Ji Won; Ju, Hee Young; Hong, Che Ry; Kim, Hyery; Yu, Young Suk; Park, Sung-Hye; Cheon, Jung-Eun; Park, Kyung Duk; Shin, Hee Young

2015-05-01

335

Bilateral clubfoot in three homozygous preterm triplets.  

PubMed

The etiology of congenital idiopathic talipes equinovarus deformity is unclear. Studies on populations, families, and twins have suggested a genetic component. However, the mode of inheritance does not fit classic patterns. The intrauterine posture and environmental and developmental causative factors have also been associated with the deformity. Neurologic, muscular, bony, connective tissue, and vascular structures can be affected. We present the case of monochorionic triplets with bilateral congenital idiopathic talipes equinovarus deformities. To the best of our knowledge, such a presentation has not been previously described and supports a genetic etiology of congenital idiopathic talipes equinovarus deformity. PMID:21616690

Pagnotta, Gaetano; Boccanera, Francesca; Rizzo, Giuseppe; Agostino, Rocco; Gougoulias, Nikolaos; Maffulli, Nicola

2011-01-01

336

Improvement of sudden bilateral hearing loss after vertebral artery stenting.  

PubMed

Bilateral deafness is a rare but possible symptom of vertebrobasilar ischemia. We report a case of sudden bilateral sensorineural hearing loss caused by bilateral vertebral artery (VA) occlusion which dramatically improved after stenting. A 54-year-old man was admitted with sudden onset of bilateral deafness, vertigo, and drowsy mental status. Brain diffusion-weighted MRI showed acute infarction involving both the posterior inferior cerebellar artery and left posterior cerebral artery territory. Cerebral angiography showed bilateral distal VA occlusion, and emergency intracranial stenting was performed in the left VA. After reperfusion therapy his symptoms gradually improved, including hearing impairment. Endovascular stenting may be helpful in a patient with sudden deafness caused by bilateral VA occlusion. PMID:25697296

Kim, Ji Hwa; Roh, Kyung Jin; Suh, Sang Hyun; Lee, Kyung-Yul

2015-01-01

337

Bilateral chylothorax: an unusual complication of cervical rib resection  

PubMed Central

Bilateral chylothorax is a rare cause of pleural effusions. Here we report an unusual acute presentation of bilateral chylothorax following thoracic outlet surgery. Unique to this case was the disparate characteristics of pleural fluid analyses with an exudate on the left and a transudate on the right. This report describes the recognition and management of bilateral chylothoraces, an uncommon but potentially serious complication of this frequently performed surgical procedure. PMID:25553240

Aslam, Imran; Johnson, Brian; Greenstone, Michael A.; Kastelik, Jack A.

2015-01-01

338

Bilateral Art: Integrating Art Therapy, Family Therapy, and Neuroscience  

Microsoft Academic Search

This paper describes the systemic use of a neurologically-based art therapy modality—bilateral art—that engages both dominant\\u000a and non-dominant hands in the process of creating images in response to opposing cognitions or feelings. It describes both\\u000a neuroscience and family therapy perspectives that argue for the use of bilateral art. A specific protocol for bilateral art\\u000a therapy is provided along with a

Carole M. McNamee

2005-01-01

339

Adrenal cortex-sparing surgery for bilateral multiple pheochromocytomas in a patient with von hippel-lindau disease.  

PubMed

Pheochromocytomas can be a part of familial neoplastic syndromes, in which case they tend to be multiple and involve both adrenal glands. Therefore, sparing adrenocortical function represents a major concern while dealing with these hereditary lesions. Herein, we describe the clinical characteristics and the management strategy of a patient with von Hippel-Lindau (VHL) disease who had multiple, bilateral pheochromocytomas as well as bilateral renal masses, pancreatic masses, and a paracaval mass. Only a portion of the left adrenal gland has remained in situ after two consecutive open surgeries and a percutaneous radiofrequency ablation which have been performed to treat the various components of this syndrome. No adrenal or extra-adrenal pheochromocytoma recurrences have been detected during a follow-up period of more than 2 years. Pancreatic and adrenal functions were normal throughout the postoperative period and never necessitated any replacement therapy. Adrenal cortex-sparing surgery is a valid option for VHL disease patients who present with synchronous bilateral adrenal pheochromocytomas. PMID:23093973

Esen, Tar?k; Acar, Omer; Tefekli, Ahmet; Musao?lu, Ahmet; Rozanes, Izzet; Emre, Ali

2012-01-01

340

Proteus Syndrome: Report of a Case with Developmental Glaucoma  

PubMed Central

The purpose of this study was to report developmental glaucoma and pseudopapilledema in a patient with Proteus syndrome. We defined the presence of developmental glaucoma, right pseudopapilledema and myopia in a 4.5-year-old patient with Proteus syndrome. Marked right hemihypertrophy, lipoma, macrodactyly, and asymmetry of the limbs were observed on systemic examination. A cavernoma was also detected in magnetic resonance imaging of the brain. The patient underwent bilateral goniotomy surgery due to glaucoma. The surgical outcomes were satisfactory in both eyes. In conclusions developmental glaucoma and pseudopapilledema might be associated with Proteus syndrome. PMID:24882963

Yuksel, Nursen; Sarman, Hakan; Bayramgurler, Dilek

2014-01-01

341

Carbamazepine-induced hypersensitivity syndrome in chronic schizophrenia.  

PubMed

Drug-induced hypersensitivity syndrome is a clinically important issue. We report a case of carbamazepine-induced hypersensitivity syndrome in a 35-year-old schizophrenia patient. This patient had no previous food or medication allergy history and presented a negative test result of HLA-B*1502 genotype. After 19 days exposure of carbamazepine, high fever up to 39.4 °C, leucopenia (1670/mm3), proteinuria and bilateral lung field infiltration were developed. These clinically significant physical conditions resolved after discontinuing carbamazepine. The importance of genetic susceptibility other than HLA-B*1502 should not be overlooked in drug-induced hypersensitivity syndrome. PMID:23153842

Pan, Chan-Wei; Yu, Chi-Hua; Liao, Ding-Lieh

2013-01-01

342

Argyll Robertson pupils in lymphocytic meningoradiculitis (Bannwarth's syndrome)  

Microsoft Academic Search

Sir: Lymphocytic meningoradiculitis or\\u000aBannwarth's syndrome is clinically characterised\\u000aby severe radicular pains with sensory\\u000aand motor impairment and cranial\\u000anerve palsies, especially unilateral or bilateral\\u000afacial weakness.'`4 The syndrome is\\u000aprobably a European variety of Lyme disease,\\u000a5 which is caused by a spirochete,\\u000aBorrelia burgdorferi,6 and transmitted by\\u000athe bite of a tick. In Bannwarth's syndrome\\u000aantibodies to

P. J. Koudstaal; M. Vermeulen; J. H. J. Wokke

1987-01-01

343

Laparoscopic Adrenalectomy in a Patient of Von Hippel Lindau Syndrome with Ventriculo-Peritoneal Shunt-Anaesthetic management  

PubMed Central

Von Hippel Lindau (VHL) syndrome has a predilection to manifest multiple haemangioblastomas in the retina and central nervous system. We report a rare case of raised intracranial pressure during bilateral laparoscopic adrenalectomy for pheochromocytoma in a patient of VHL syndrome who had a ventriculoperitoneal shunt. PMID:25386452

Mungasuvalli, Nagaraj Channappa; Chinnappa, Jithendra; Iyer, Sadasivan Shanker; Thammanna, Prathima Padavarahalli

2014-01-01

344

Bilateral synchronous spermatocytic seminoma: a rare case report  

PubMed Central

Testicular tumors are very common among man under the age of 45 years. The case of bilateral synchronous testicular seminoma is very rare. We present a case of bilateral synchronous testicular seminoma stage-I in a 42-year old Indian male who came to our hospital with chief complaints of dull ache in the abdomen and groin, bilateral scrotal swelling and heaviness, left-sided scrotal swelling since last four years, and right-sided since last two years. He underwent bilateral orchidectomy followed by radiotherapy. In this case we throw light on this rare condition and discuss the management. PMID:25309674

Yadav, Sankalp; Gupta, Nishant

2014-01-01

345

Bilateral clavicle osteomyelitis: A case report  

PubMed Central

INTRODUCTION Osteomyelitis of the clavicle is rare. Infection occurs from hematogenous spread or trauma. In adults infection is usually secondary due to an exogenous cause such as open fractures, surgery (iatrogenic) or spread from local tissue with infection. PRESENTATION OF CASE The case is presented here of a 50-year old female with bilateral clavicular fractures, who was operated on with open reduction and internal fixation. At the 6-month follow-up, she had complaints of bilateral osteomyelitis which was successfully treated with resection of the infected segment of the bone, and antibiotic impregnated collagen. DISCUSSION Predisposing factors include diabetes, intravenous drug abuse, tuberculosis or immune suppression. Management involves the removal of bone fixation, debridement of the bone and if there is a defect, coverage with a muscle flap is applied. CONCLUSION In cases of clavicular osteomyelitis where infection continues despite debridement and antibiotic therapy, excision of the sequestered clavicular section is a successful treatment approach and has been seen to improve quality of life without any functional loss. PMID:25460439

Saglam, Fevzi; Saglam, Seymanur; Gulabi, Deniz; Eceviz, Engin; Elmali, Nurzat; Yilmaz, Mustafa

2014-01-01

346

Influence of unilateral weight on bilateral cyclograms  

NASA Astrophysics Data System (ADS)

The paper presents the results of gait parameters as a function of unilateral weight. The object of the research was a woman walking on a stationary surface and carrying in his hand weights from 0 to 15 kg. Her movement was recorded by 6 cameras recording the location of 34 markers placed at appropriate points in the body. 3D reconstruction was performed for each of the reflecting markers. Tested signals were changes in the value the joint angles of ankle, knee and hip. On the basis of about 6 cycles of movement of each load, a model for the average gait cycle was developed. The result of the experiments are graphs of changes the joint angles as a function of time, bilateral cyclograms, synchronized bilateral cyclograms and regression lines. The conclusion of the study is to determine how one-sided load affects gait asymmetry. Simple and easy to interpret method of presentation of results were also shown. Studies were conducted using VICON system.

Pellicer Costa, Juan José; Dusza, Jacek J.

2014-11-01

347

Clinical, electrophysiological, and MRI findings in patients with cerebellar ataxia and a bilaterally pathological head-impulse test.  

PubMed

A significant number of patients with bilateral vestibulopathy suffer from cerebellar ataxia and central vestibular symptoms and vice versa. We examined 31 patients presenting with the combination of gait and stance ataxia, cerebellar ocular motor signs, and a bilaterally pathological head-impulse test (HIT). Tests included neuro-orthoptical examination, electromyography and neurography, caloric irrigation, pure-tone audiogram, vestibular-evoked myogenic potentials, and volumetric magnetic resonance imaging (MRI). Only 17 of 31 patients had a pathological caloric irrigation. Twenty-three patients had evidence of polyneuropathy (predominantly mixed sensorimotor involving axonal loss and demyelination) and twenty of hypoacusis (1 unilateral and 19 bilateral). Voxel-based morphometry comparing local gray matter brain volume between patients and controls revealed cerebellar atrophy involving both the vermis and the hemispheres. We conclude that there is a clinically relevant combination of cerebellar ataxia with cerebellar atrophy, bilaterally pathological HIT, polyneuropathy, and hypoacusis. This multisensory syndrome is most likely caused by a neurodegenerative disorder affecting different systems, leading to severe impairment of affected patients. PMID:21950985

Kirchner, Hanni; Kremmyda, Olympia; Hüfner, Katharina; Stephan, Thomas; Zingler, Vera; Brandt, Thomas; Jahn, Klaus; Strupp, Michael

2011-09-01

348

Exfoliation syndrome and exfoliation glaucoma.  

PubMed

Exfoliation syndrome abnormal deposition in the anterior segment of the eye of an unknown substance thought to be related to elastic fibres and basement membrane components is associated with accelerated cataract progression. increased frequency of intraoperative and postoperative complications and increased risk for glaucoma and. therefore, is a clinically important finding. A clear association has been shown with age. The syndrome occurs worldwide but its prevalence seems to vary from country to country. The best-known sign of exfoliation syndrome is deposits of greyish-white material on the anterior lens surface. Sometimes exfoliation material can also be seen at the pupillary border, on the anterior iris surface, corneal endothelium, and on the anterior vitreous face. When clinically detected, exfoliation syndrome is somewhat more often unilateral than bilateral. According to recent investigations clinically unilateral exfoliation syndrome is probably never truly unilateral but rather asymmetric, because exfoliation material has been detected ultrastructurally and immunohistochemically around iris blood vessels of the nonexfoliative fellow eyes. Indeed, electron microscopy identifies in various organs of patients with exfoliation syndrome fibrils similar to those seen in intraocular exfoliation deposits. Other clinical signs associated with exfoliation syndrome are pigment dispersion, transillumination defects of the iris and reduced response to mydriatics. In unilateral exfoliation syndrome, intraocular pressure (IOP) of the exfoliative eye is approximately 2 mmHg higher than IOP of the nonexfoliative fellow eye. Whether elevated IOP, vascular changes or exfoliation syndrome itself is the main factor causing optic nerve head damage and conversion of an exfoliative eye to glaucomatous, is not known. Glaucoma in the exfoliation syndrome has been shown to have a more serious clinical course than in primary open-angle glaucoma (POAG). At the time of diagnosis, IOP and its diurnal variation are generally higher and visual field defects tend to be greater in exfoliation glaucoma than in POAG. Because the decrease in lOP variation and lowering of the mean IOP level has been shown to improve visual field prognosis more in exfoliation glaucoma than in POAG, the glaucomatous process is considered to be more pressure-related in exfoliation glaucoma. Furthermore, progression of optic disc damage has been shown to be similar in exfoliation glaucoma and POAG when lOPs are lowered to a comparable level by the treatment. However, vascular disturbances in the posterior segment of the eye might after all be of equal importance in these two types of glaucoma; optic disc haemorrhages and venous occlusions have been reported to be as frequent in exfoliation glaucoma as in POAG. Perhaps in exfoliation glaucoma circullatory disturbances combined with high IOP lead to a particularly relentlessly progressing form of the disease. PMID:10749381

Vesti, E; Kivelä, T

2000-05-01

349

Intracranial Volume in 15 Children with Bilateral Coronal Craniosynostosis  

PubMed Central

Background: Intracranial volume (ICV) growth in patients with bilateral coronal craniosynostosis (BCS) is not well described. It is therefore important to evaluate the consequences of cranial surgery in children with this condition. The aim of the present study was to evaluate ICVs in patients operated on for BCS. Methods: A consecutive series of patients with BCS were operated on using spring-assisted cranioplasty, with computed tomography scans in 0.6-mm slices, were included. A MATLAB-based computer program capable of measuring ICV was used. Patients were compared with an age- and gender-matched control group of healthy children. Student’s t test was used for statistical analysis. Results: Fifteen patients (7 girls and 8 boys) with 43 computed tomography scans were identified. The diagnoses were 13 syndromic BCS (3 Apert, 1 Crouzon, 6 Muenke, and 3 Saethre-Chotzen) and 2 nonsyndromic BCS. The mean preoperative volume at the age of 5 months (n = 15) was 887?mL (range, 687–1082). Mean volume at follow-up at the age of 3 years (n = 13) was 1369?mL (range, 1196–1616). In comparison, the mean ICVs for controls at the ages of 5 months (n = 30) and 3 years (n = 26) were 854?mL and 1358?mL, respectively. The differences were not statistically significant (P > 0.05). Conclusions: Patients with BCS were operated on with spring-assisted cranioplasty seem to maintain their age-related ICV at 3 years of age when compared to normal children. PMID:25506526

Maltese, Giovanni; Wikberg, Emma; Bernhardt, Peter; Kölby, Lars; Tarnow, Peter E. W.

2014-01-01

350

Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome: report of a child with phenotypic overlap with ulnar-mammary syndrome and a new mutation in TP63.  

PubMed

We report on a new patient with clinical findings consistent with acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome. The child had sparse hair, extensive freckling, lacrimal duct stenosis, oligodontia, dystrophic nails, reduced sweating, and bilateral athelia. Examination of his hands showed ulnar ray hypoplasia with bilateral fifth finger brachydactyly and camptodactyly. He also had surgical repair of an imperforate anus. Mutation analysis of TP63 showed a single nucleotide substitution, c.G518A, predicting a novel missense mutation, p.V114M in exon 4. This is the third mutation to be reported in TP63 in ADULT syndrome. PMID:16114047

Slavotinek, Anne M; Tanaka, June; Winder, Alison; Vargervik, Karin; Haggstrom, Anita; Bamshad, Michael

2005-10-01

351

Gorlin Syndrome  

PubMed Central

Gorlin Syndrome, a rare genodermatosis, otherwise known as Nevoid basal cell carcinoma syndrome (NBCCS) is a multisystem disease affecting skin, nervous system, eyes, endocrine glands, and bones. It is characterized by multiple basal cell carcinomas, palmoplantar pits, jaw cysts, and bony deformities like kyphoscoliosis and frontal bossing. We would like to report a case of Gorlin syndrome with classical features, as this is a rare genodermatosis. PMID:23723494

Devi, Basanti; Behera, Binodini; Patro, Sibasish; Pattnaik, Subhransu S; Puhan, Manas R

2013-01-01

352

Simultaneous Bilateral Cochlear Implantation in Adults: A Multicenter Clinical Study  

PubMed Central

Objective To determine the efficacy of “simultaneous” bilateral cochlear implantation (both implants placed during a single surgical procedure) by comparing bilateral and unilateral implant use in a large number of adult subjects tested at multiple sites. Design Prospective study of 37 adults with postlinguistic onset of bilateral, severe to profound sensorineural hearing loss. Performance with the bilateral cochlear implants, using the same speech processor type and speech processing strategy, was compared with performance using the left implant alone and the right implant alone. Speech understanding in quiet (CNCs and HINT sentences) and in noise (BKB-SIN Test) were evaluated at several postactivation time intervals, with speech presented at 0° azimuth, and noise at either 0°, 90° right, or 90° left in the horizontal plane. APHAB questionnaire data were collected after each subject underwent a 3-wk “bilateral deprivation” period, during which they wore only the speech processor that produced the best score during unilateral testing, and also after a period of listening again with the bilateral implants. Results By 6-mo postactivation, a significant advantage for speech understanding in quiet was found in the bilateral listening mode compared with either unilateral listening modes. For speech understanding in noise, the largest and most robust bilateral benefit was when the subject was able to take advantage of the head shadow effect; i.e., results were significantly better for bilateral listening compared with the unilateral condition when the ear opposite to the side of the noise was added to create the bilateral condition. This bilateral benefit was seen on at least one of the two unilateral ear comparisons for nearly all (32/34) subjects. Bilateral benefit was also found for a few subjects in spatial configurations that evaluated binaural redundancy and binaural squelch effects. A subgroup of subjects who had asymmetrical unilateral implant performances were, overall, similar in performance to subjects with symmetrical hearing. The questionnaire data indicated that bilateral users perceive their own performance to be better with bilateral cochlear implants than when using a single device. Conclusions Findings with a large patient group are in agreement with previous reports on smaller groups, showing that, overall, bilateral implantation offers the majority of patients advantages when listening in simulated adverse conditions. PMID:17086081

Litovsky, Ruth; Parkinson, Aaron; Arcaroli, Jennifer; Sammeth, Carol

2009-01-01

353

Cushing syndrome  

MedlinePLUS

... Tumors elsewhere in the body that produce ACTH ( ectopic Cushing syndrome ) ... the condition will return. Survival for people with ectopic tumors depends on the tumor type. Untreated, Cushing ...

354

Nonlethal multiple pterygium syndrome: Escobar syndrome.  

PubMed

Nonlethal Escobar is a rare disorder that is a variant of multiple pterygium syndromes. It is a form of arthrogryposis multiplex congenita characterized by excessive webbing (pterygia), congenital contractures (arthrogryposis), and scoliosis. It is usually diagnosed in utero on fetal ultrasound and then confirmed in the neonatal period. A case of nonlethal neonatal Escobar is reported in a 35-week-and-6-day old infant who presented in utero with decreased fetal movement, oligohydramnios, and arthrogryposis. The etiologies from maternal causes were excluded prior to birth. Subsequent workup after birth led to a highly suspected diagnosis of nonlethal Escobar by the geneticist. The diagnosis was confirmed by a positive CHRNG gene sequence analysis after discharge. The infant demonstrated contractures and bilateral hip subluxation but was feeding well and was discharged home with outpatient follow-up. Treatment after discharge has been extensive secondary to difficulties associated with this disease. The clinical presentation of nonlethal Escobar, as well as diagnosis and treatment strategies, is provided with caregiving strategies. PMID:24472885

Bissinger, Robin L; Koch, Frances R

2014-02-01

355

Androgens in women before and after the menopause and post bilateral oophorectomy: clinical effects and indications for testosterone therapy.  

PubMed

In postmenopausal women, the ovaries produce significant amounts of androgens for many years after the menopause. Bilateral oophorectomy markedly reduces circulating testosterone (T) in both pre- and postmenopausal women. Oral estrogen therapy in postmenopausal women increases sex hormone-binding globulin and decreases T bioavailablity. Circulating androgens decrease with increasing age. The occurrence of an androgen deficiency syndrome associated with loss of libido and sense of well-being is disputed, but in several randomized controlled trials, transdermal T patches produced a significant improvement in hypoactive sexual desire disorder in postmenopausal women who had bilateral oophorectomy and in some women who had a natural menopause. T therapy is legitimate and is clinically indicated in such women. T therapy may have other benefits in postmenopausal women including an increase in lean body mass and bone mineral density. T therapy should become an integral part of hormone therapy in selected postmenopausal women in the future. PMID:22757734

Davey, Dennis A

2012-07-01

356

Down Syndrome What causes Down syndrome?  

E-print Network

04/13 Down Syndrome What causes Down syndrome? Individuals with Down syndrome usually have an extra chromosome 21. Down syndrome occurs in about 1 in every 700 to 1,000 births. The chance of giving birth to a baby with Down syndrome increases if the mother is over 35 years old. Down syndrome affects both males

Palmeri, Thomas

357

Subacute bilateral visual loss in methylmalonic acidemia.  

PubMed

A 23-year-old woman known to have methylmalonic acidemia (MMA) since birth suffered bilateral visual loss within 5 days. Multiple sclerosis, Leber hereditary optic neuropathy, vasculitis, infections (in particular treponema), and vitamin deficiency were ruled out. The optic nerve head changed from normal in appearance to atrophic. Treatment attempts with high-dose intravenous steroids and coenzyme Q10 combined with vitamin E were ineffective. The patient's underlying disease was metabolically well controlled by strict diet and carnitine supplementation. Toxic damage of both optic nerves due to MMA is the most likely mechanism. MRI showed moderate enhancement of both optic nerves. To our knowledge, this is the first report of a morphological correlate on MRI. PMID:21873889

Traber, Ghislaine; Baumgartner, Matthias R; Schwarz, Urs; Pangalu, Athina; Donath, Marc Y; Landau, Klara

2011-12-01

358

An Unusual Case of Bilateral Granulomatous Mastitis  

PubMed Central

Idiopathic granulomatous mastitis (IGM) is an uncommon benign disorder of the breast. At clinical examination, IGM is characterized by an inflammatory process of the breast, usually unilateral. Possible clinical findings are palpable mass with erythematous skin, pain, sterile abscesses, fistula and nipple retraction. Mammography and ultrasound findings are not specific for IGM. Magnetic resonance imaging (MRI) is a useful tool for the differential diagnosis; it is also necessary to delineate the exact extension of the disease and to plan the correct treatment. Final diagnosis is histological. We described an unusual case of IGM with bilateral involvement in a patient with history of pacemaker implantation and IGM typical clinical symptoms. Mammography, ultrasound, and MRI examinations were performed to identify the inflammatory disorder and to plan the correct therapy. Imaging features were correlated with final histological diagnosis of IGM. PMID:23781373

Pistolese, C. A.; Di Trapano, R.; Girardi, V.; Costanzo, E.; Di Poce, I.; Simonetti, G.

2013-01-01

359

A very rare bilateral adrenal tumor.  

PubMed

We report a case of very rare adrenal tumor. A 54-year-old patient was classified as affected by bilateral adrenal incidentaloma that surprisingly, on histology resulted solitary fibrous tumors. Solitary fibrous tumor (SFT) is an uncommon mesenchymal neoplasm. Only five cases of localization of SFT in adrenal gland are reported in the literature, while the frequency of retroperitoneum localization is more frequent, about 30 cases. Immunohistochemically, SFT can be positive for CD34 antigen, vimentin, CD99, and bcl-2 and usually negative for cytokeratins, chromogranin A, NSE, neurofilaments, synoptophysin, and S-100. Surgical excision remains the main treatment in fact the recurrence is locoregional and correlated with positive margins due to incomplete excision, while distant metastases are correlated with atypical or malignant features. PMID:24146413

Toniato, Antonio; Boschin, Isabella Merante; Pelizzo, Maria Rosa

2014-04-01

360

Chronic bilateral otomycosis caused by Aspergillus niger.  

PubMed

Aspergillus niger, an opportunistic filamentous fungus, was identified as the cause of chronic bilateral otomycosis in a 46-year-old female patient who was unresponsive to different drugs. The patient showed signs of erythema, otalgia, itching, otorrhoea and presence of greyish black coloured mass in both the ear canals. The direct microscopical examination of the ear debris in potassium hydroxide preparations, Giemsa, phase contrast and Gram revealed many thin, branched septate hyphae, condia and conidiophores morphologically indistinguishable from Aspergillus spp. The histopathological section of the ear wax mass by haematoxylin and eosin and periodic acid-Schiff techniques also showed similar fungal elements. The patient responded to 1% solution of mercurochrome. The use of mercurochrome in developing countries like India may be recommended to treat the fungal otitis in patients. We also emphasize that 'Narayan' stain should be routinely employed by microbiology and public health laboratories to study the morphology of pathogenic fungi. PMID:14998406

Mishra, G S; Mehta, Niral; Pal, M

2004-02-01

361

Laparoscopic repair of bilateral morgagni hernia.  

PubMed

Morgagni hernias are rare and comprise approximately 3% of the congenital diaphragmatic hernias that are observed in 1 in 4800 live births. A 50-year-old female patient who complained of nonspecific chest pain radiating to the right arm for approximately 1 year presented. Chest x-ray revealed a right-sided paracardiac mass diagnosed Morgagni hernia by computerized tomography of the thorax. Laparoscopic exploration showed that the retrosternal hernia was actually a bilateral one. After reducing the contents of the hernial sacs, the defects were closed as a single defect with hernia stapler starting from each end and an appropriate sized polyprolene mesh was closed over the repair site. The patient did not have any symptoms of recurrence after 3 months. Recent advances in video-endoscopic surgery made it possible to perform repairs of these hernias less traumatic and more comfortable to the patients than the conventional transabdominal or transthoracic methods. PMID:15287610

Tarim, Akin; Nursal, Tarik Zafer; Yildirim, Sedat; Ezer, Ali; Caliskan, Kenan; Törer, Nurkan

2004-04-01

362

Rhinoscleroma causing severe bilateral nasal obstruction.  

PubMed

Rhinoscleroma is a chronic, infectious and granulomatous disease of the respiratory tract. There is often a delay in diagnosis due to unfamiliarity with the disease and also because culture is not always positive. We report a case in a 26-year-old woman with granular mass obstructing bilateral nasal cavities and causing breathing difficulty. Histopathological examination showed characteristic Mikulicz histiocytes containing numerous Gram-negative intracellular rod-shaped bacilli consistent with the diagnosis of rhinoscleroma. The patient was treated with gemifloxacin and tetracycline and remains asymptomatic over a year follow-up period. It is important to consider rhinoscleroma in cases of chronic nasal obstruction. As culture is not always positive, histopathological examination may be crucial to the diagnosis. PMID:20563449

Moraes, Mário Augusto Pinto de; Magalhães, Albino Verçosa de; Marinho, Larissa Cardoso; Azevedo, Ana Emília Borges de; Carneiro, Fabiana Pirani; Raymundo, Igor Teixeira

2010-01-01

363

Bilateral mechanical rotational vertebral artery occlusion.  

PubMed

Rotational vertebral artery occlusion, or bow hunter's stroke, is reversible, positional symptomatic vertebrobasilar ischemia. The typical mechanism of action is obstruction of a dominant vertebral artery with contralateral head rotation in the setting of baseline ipsilateral vertebral artery stenosis or occlusion. Here we present a rare case of mechanical occlusion of bilateral patent vertebral arteries manifesting as near syncope with rightward head rotation. Diagnostic cerebral angiography showed dynamic right C5 vertebral occlusion and left C2 vertebral occlusion. The patient underwent right C4/5 transverse process decompression. Postoperative angiogram showed patent flow through the right vertebral artery in neutral position and with head turn with resultant resolution of symptoms. PMID:23465174

Dargon, Phong T; Liang, Conrad W; Kohal, Anmol; Dogan, Aclan; Barnwell, Stanley L; Landry, Gregory J

2013-10-01

364

Bilateral, perivulval cuticular pores in trichostrongylid nematodes.  

PubMed

A new hypodermal gland was discovered in female nematodes of the family Trichostrongylidae. Because the new structure appears to be associated with the vulva, it was named the perivulval pore. It is similar, based on light and scanning electron microscopy, to phasmids that are located laterally on the tails of nematodes of the class Secernentea. Like phasmids, perivulval pores are paired and bilateral, with cuticular ducts to the surface in the areas of the lateral chords. They are located slightly posterior to the vulva in Haemonchus contortus, Haemonchus placei, Haemonchus similis, Mecistocirrus digitatus, Mazamastrongylus pursglovei, Ostertagia ostertagi, and Cooperia oncophora, but in Trichostrongylus colubriformis they are slightly anterior to the vulva. Because of the location near the vulva and the similarity in structure to phasmids, which are, at least in part, secretory, the perivulval pores should be considered as a possible source of a female attractant for males. PMID:7623208

Lichtenfels, J R; Wergin, W P; Murphy, C; Pilitt, P A

1995-08-01

365

A Case Report of Bilateral Obturator Foramen Bypass  

Microsoft Academic Search

The obturator foramen bypass has been described as an alternative procedure to solve complicated vascular problems in the groin. This extra-anatomical bypass has been used successfully in cases of infection, mycotic aneurysms, traumatic ulcer, irradiation ulcer, and excessively scarred tissues in the femoral region. We describe a patient who required bilateral obturator foramen bypass due to bilateral infected femoral pseudoaneurysm

D. I. Kim; J. H. Joh

2005-01-01

366

Robust bilateral generalized predictive control for teleoperation systems  

Microsoft Academic Search

This paper presents a Generalized Predictive Control (GPC) extension, called Bilateral GPC (BGPC), for teleoperation systems in the presence of both communication delays and slave force feedback. The originality of the proposed approach is to take into account the case where the reference trajectory is not a priori known. This difficulty is due to the bilateral problem where the force

T. Slama; D. Aubry; R. Oboe; F. Kratz

2007-01-01

367

Primary spontaneous pneumothorax: one-stage treatment by bilateral videothoracoscopy  

Microsoft Academic Search

Background. The goal of the study was to report our 7-year experience with single-stage bilateral videothoracoscopy for bleb excision and pleural abrasion in patients suffering primary spontaneous pneumothorax.Methods. From November 1992 through June 1999, 12 men were operated on in our department. Preoperative chest computed tomographic scans were obtained for all patients. Operative indications included simultaneous bilateral pneumothorax (n =

Xavier de Kerangal; François Pons; René Jancovici

2000-01-01

368

UNITED STATES/GERMAN TECHNICAL BILATERAL AGREEMENT: PAST, PRESENT & FUTURE  

EPA Science Inventory

The U.S. Environmental Protection Agency (EPA) and the German Federal Ministry of Education and Research (BMBF) entered into a Bilateral Agreement in 1990 to study each country's efforts in developing and demonstrating remedial technologies. The bilateral agreement is being impl...

369

Should lung volume reduction for emphysema be unilateral or bilateral?  

Microsoft Academic Search

Both unilateral and bilateral lung volume reduction procedures are being advocated for treatment of severe, generalized emphysema. We analyzed the results of 166 consecutive patients who underwent unilateral (n = 87) or bilateral (n = 79) thoracoscopic stapled lung volume reductions to help define the role for these procedures. There was no statistically significant difference in the operative mortality (3.5%

Robert J. McKenna; Matthew Brenner; Richard J. Fischel; Arthur F. Gelb

1996-01-01

370

Bilateral congenital ureteral strictures in a young cat  

PubMed Central

An 8-month-old cat was presented with bilateral hydronephrosis. Bilateral ureteral obstructions were identified by diagnostic imaging and confirmed by necropsy. Histopathologic findings revealed polypoid transitional epithelial hyperplasia with chronic lymphoplasmacytic inflammation. This report documents congenital ureteral strictures as a cause of ureteral obstruction in a young cat. PMID:25183890

Lee, Namsoon; Choi, Mihyun; Keh, Seoyeon; Oh, Yein; Seo, Jimin; Choi, Heeyeon; Kim, Hyunwook; Yoon, Junghee

2014-01-01

371

Traumatic bilateral basal ganglia hematoma: A report of two cases  

PubMed Central

Traumatic Basal ganglia hemorrhage is relatively uncommon. Bilateral basal ganglia hematoma after trauma is extremely rare and is limited to case reports. We report two cases of traumatic bilateral basal ganglia hemorrhage, and review the literature in brief. Both cases were managed conservatively. PMID:23293672

Bhargava, Pranshu; Grewal, Sarvpreet Singh; Gupta, Bharat; Jain, Vikas; Sobti, Harman

2012-01-01

372

Bilateral Spontaneous Hemotympanum Secondary to Chemotherapy-Induced Thrombocytopenia  

PubMed Central

Objective To present a case of spontaneous, bilateral hemotympanum secondary to chemotherapy-induced thrombocytopenia. Methods Case report and review of the literature. Results Bilateral spontaneous hemotympanum is an exceedingly rare event. We present the first case of nontraumatic bilateral hemotympanum secondary to chemotherapy-induced thrombocytopenia in a patient with acute myelogenous leukemia. The patient presented with a 7-day history of progressive bilateral hearing loss and a platelet count of 10 × 109/L after receiving his first dose of induction chemotherapy. A small, left-sided subdural hematoma was present in this patient though no extra-aural sources of bleeding to explain the bilateral hemotympanum were identified. Conclusion Full resolution of symptoms was achieved with conservative management. PMID:24179409

Wong, Peter; Xu, Caroline; Gomaa, Nahla; Ho, Allan

2013-01-01

373

Bilateral ethmoidal dural arteriovenous fistula: unexpected surgical diagnosis.  

PubMed

Dural arteriovenous fistulae (DAVFs) are infrequent lesions, the most common locations of which are the cavernous, sigmoid and transverse sinuses. The cribiform plate is one of the less frequent sites for DAVFs, where they entail a high hemorrhage risk. Feeding arteries for ethmoidal DAVFs can be uni- or bilateral. However, the draining fistulous system has classically been described as unilateral. The authors report the second case in literature of bilateral ethmoidal DAVF, which is defined as that with bilateral draining veins. The present case was diagnosed only after surgical exploration of both cribiform plates. No preoperative radiological test could detect the presence of a bilateral venous draining system from the ethmoidal DAVF. Possible reasons for that lack of presurgical diagnosis are discussed. Bilateral surgical exploration of the anterior cranial fossa is recommended when dealing with ethmoidal DAVFs, even when they seem to be unilateral on preoperative studies. PMID:20727670

Ros de San Pedro, Javier; Pérez, Claudio J Piqueras; Parra, Joaquín Zamarro; López-Guerrero, Antonio López; Sánchez, Juan F Martínez-Lage

2010-12-01

374

[A case of meningeal carcinomatosis presenting with bilateral hearing loss].  

PubMed

We report the case of a 63-year-old male who developed rapidly progressive bilateral deafness. Two months later he became stuporous, and was transferred to our hospital. The patient's MRI demonstrated bilateral hypertrophic VII-VIII cranial nerve roots that were well enhanced. Gradually, the patient's condition worsened, and he died on the 12th day after admission. Autopsy revealed meningeal carcinomatosis with poorly differentiated gastric adenocarcinoma. White firm masses of the bilateral seventh and eighth bilateral cranial nerve roots were found at autopsy, which were found to be metastases of the gastric cancer cells as well. Metastatic tumors can be take into consideration as a differential diagnosis for bilateral-enhanced eighth cranial nerve root masses. PMID:18095490

Okamoto, Yoko; Sugiyama, Hiromichi; Yamamoto, Toru

2007-12-01

375

Angelman syndrome  

MedlinePLUS

... Genet. 2003;40(2):87-95. Dagli A, Williams CA. Angelman Syndrome. In: Pagon RA, Bird TD, Dolan CR, et ... Med Genet A. 2006;140(5):413-8. Williams CA, Driscoll DJ, Dagli AI. Clinical and genetic aspects of Angelman syndrome. Genet Med. 2010;12(7):385-95.

376

Poland syndrome  

PubMed Central

Poland's syndrome is a rare congenital condition, characterized by the absence of the sternal or breastbone portion of the pectoralis major muscle, which may be associated with the absence of nearby musculoskeletal structures. We hereby report an 8-year-old boy with typical features of Poland syndrome, the first documented case from Uttar Pradesh, India. PMID:24959021

Sharma, Chandra Madhur; Kumar, Shrawan; Meghwani, Manoj K.; Agrawal, Ravi P.

2014-01-01

377

Winchester syndrome  

Microsoft Academic Search

Winchester syndrome was first described in 1969 and since then nine patients have been reported in the literature. The syndrome is characterized by short stature, coarse face, corneal opacities, generalized osteolysis and progressive painful arthropathy with joint stiffness and contractures of distal phalanges in combination with skin changes. The etiology is unknown. Parental consanguinity supports autosomal inheritance. The diagnosis is

G. Matthiesen; V. Faurholt Pedersen; P. Helin; G. Krag Jacobsen; N. Søe Nielsen

2001-01-01

378

HELLP Syndrome  

MedlinePLUS

... have your baby. HELLP stands for Hemolysis, Elevated Liver enzyme levels and a Low Platelet count. These are problems that can occur in women who have this syndrome. Women who have HELLP syndrome may have bleeding problems, liver problems and blood pressure problems that can hurt ...

379

[Cotard syndrome].  

PubMed

We describe a schizophrenic paranoid patient, who developed a unique clinical state that fits the Cotard syndrome. The article deals with the course of the disease, the clinical characteristics, the difficulties of treatment. The process of diagnosis and its difficulties, and the rareness of the symptoms are emphasized. Various etiological causes of the syndrome are discussed. PMID:8682373

Simovici, G; Bauer, A

1996-01-01

380

Bazex Syndrome*  

PubMed Central

Acrokeratosis Paraneoplastica or Bazex syndrome is a dermatologic manifestation usually associated with the diagnosis of squamous cell carcinoma of the upper aerodigestive tract. We report a case with exuberant clinical manifestations, exemplifying the typical cutaneous lesions in this rare syndrome, in a patient with squamous cell carcinoma of the esophagus. PMID:24346922

Rodrigues Júnior, Ismael Alves; Gresta, Letícia Trivellato; Cruz, Rafaela Carolina; Carvalho, Giselly Gomes; Moreira, Melissa Heringer Chamon Barros Quintão

2013-01-01

381

Turner syndrome  

MedlinePLUS

Growth hormone may help a child with Turner syndrome grow taller. Estrogen replacement therapy is often started when the girl is 12 or 13 years old. This helps trigger the growth of breasts, ... Women with Turner syndrome who wish to become pregnant ...

382

Metabolic Syndrome  

MedlinePLUS

... syndrome can lead to. Back Continue Changing Your Course In the case of metabolic syndrome, making a couple of lifestyle changes is the best way to keep yourself on a track to good health. Here are the top ones: Drop excess pounds. If you're overweight, ...

383

[Hypereosinophilic syndrome].  

PubMed

In light of a case of hypereosinophilic syndrome with no revealing underlying disease, the diagnosis and treatment of idiopathic hypereosinophilic syndrome (HES) are discussed. The recent evidence that there are two variants of HES, myeloproliferative and lymphocytic, is considered. PMID:16336860

Troelsen, Lone N; Boisen, Lotte W; Andersen, Ove

2005-12-01

384

Keratitis-Ichthyosis-Deafness syndrome: A rare congenital disorder  

PubMed Central

Keratitis-Icthyosis-Deafness syndrome is a rare congenital disorder characterized by keratitis, ichthyosis, and deafness. We report a 13 year old female child who presented with diffuse alopecia of the scalp and body. There was erythrokeratoderma of face and discrete hyperkeratotic hyperpigmented papulo plaque lesions on the body. Patient also had reticulate hyperkeratosis of palms and soles. There was history of recurrent episodes of folliculitis over the scalp and body. There was no evidence of any malignancy. Eye involvement in the form of bilateral vascularising keratitis was present. There was bilateral mixed hearing loss. PMID:23130264

Shanker, Vinay; Gupta, Mudita; Prashar, Aditi

2012-01-01

385

Syndromic Craniosynostosis  

PubMed Central

Although most cases of craniosynostosis are nonsyndromic, craniosynostosis is known to occur in conjunction with other anomalies in well-defined patterns that make up clinically recognized syndromes. Patients with syndromic craniosynostoses are much more complicated to care for, requiring a multidisciplinary approach to address all of their needs effectively. This review describes the most common craniosynostosis syndromes, their characteristic features and syndrome-specific functional issues, and new modalities utilized in their management. General principles including skull development, the risk of developing increased intracranial pressure in craniosynostosis syndromes, and techniques to measure intracranial pressure are discussed. Evolving techniques of the established operative management of craniosynostosis are discussed together with more recent techniques including spring cranioplasty and posterior cranial vault distraction osteogenesis. PMID:23633933

Derderian, Christopher; Seaward, James

2012-01-01

386

Bilateral intralobar pulmonary sequestration in a newborn, case report and review of the literature on bilateral pulmonary sequestrations  

Microsoft Academic Search

We describe a rare case of bilateral intralobar pulmonary sequestration in a newborn with both sequestrations vascularized from a vessel arising from the celiac trunk of the abdominal aorta. The larger sequestration on the right side was diagnosed antenatally, the left side postnatally. At the age of 7 months, the child underwent successful bilateral thoracotomy. In follow-up at the age

Robert Stern; Steffen Berger; Carmen Casaulta; Luigi Raio; Susanne Abderhalden; Zacharias Zachariou

2007-01-01

387

Orbital Lipomatosis: A Complication of Steroid Therapy in the Sweet Syndrome.  

PubMed

The description of a Sweet syndrome steroid dependant-induced orbital lipomatosis is reported. A 76-year-old-man with history of Sweet syndrome presented with severe bilateral proptosis (Hertel value, 25 mm) with decreased visual acuity and evoked potentials lengthened. A bilateral transpalpebral orbital decompression was performed by resection of intraorbital fat without bone removal. The surgery was uneventful. The volume of resected orbital fat was 15 ml for both sides. Proptosis reduction was 6 mm. Postoperative Hertel values were 19 mm, and evoked potentials were improved. The proptosis was managed successfully. Orbital lipectomy led to minimal sequelae and may be repeated if necessary in this case. PMID:25120096

Da Costa, Gwendoline; Pare, Arnaud; Sury, Florent; Goga, Dominque; Laure, Boris

2014-09-12

388

Alder-Reilly Anomaly in Hurler's Syndrome in a Neonate: A Rare Case Report.  

PubMed

A 22-days-old male newborn baby presented with persistence of neonatal jaundice since birth. On clinical examination he had coarse facial features, a prominent forehead, enlarged tongue, icterus, hepatosplenomegaly, skeletal deformities and bilateral inguinal hernia. On investigation the peripheral smear revealed Alder-Reilly anomaly in the neutrophils suggesting mucopolysaccharidosis. Mucopolysaccharide excretion spot test of the urine was positive; and an assay for glycosaminoglycans in the urine was also high, which confirmed the clinical diagnosis of Hurler's syndrome. We present this rare case to highlight the association of Alder-Reilly anomaly and bilateral inguinal hernia in Hurler's syndrome even in neonates. PMID:24426371

Bhuyan, Pallavi; Singh, Bipsa; Chakrabarty, Sukumar; Mohanty, Niranjan; Agarwal, Mukesh; Satpathy, Sanghamitra

2013-09-01

389

Leksell Gamma Knife : An Effective Non Invasive Treatment for Rare Case of Nelson’s Syndrome  

PubMed Central

Nelson’s syndrome nowadays a rare entity results from an adrenocorticotropin (ACTH)–secreting pituitary adenoma in patients with refractory Cushing's disease after a therapeutic bilateral adrenal gland removal. We report a case of 25 year old female with cushing’s disease who was initially managed with medical treatment, but in view of severe persistent hyper cortisol state was subjected to bilateral adrenalectomy following which she developed Nelson’s syndrome after a gap of six years, which was difficult to diagnose because of limited investigations available. Patient was managed with stereotactic radiosurgery (gamma knife surgery). PMID:24348593

Arshad, Faheem; Laway, bashir ahmad; bhat, Manzoor Ahmad; Irfan Showkat, hakim; Kotwal, suman; Ahmad Mir, shahnaz

2013-01-01

390

Bilateral sensorineural deafness and hydrocephalus due to foramen of Monro obstruction in sibs: A newly described autosomal recessive disorder  

SciTech Connect

We identified a Canadian-Mennonite family in which a brother and sister have hydrocephalus due to obstruction at the foramen of Monro and profound bilateral sensorineural deafness. This appears to be a unique combination of anomalies and, to our knowledge, has not been reported previously. Both parents and a brother are phenotypically normal. The parents are second cousins. Thus, on the basis of consanguinity, affected sibs of both sexes, and in the absence of evidence for intrauterine infections or other adverse perinatal events, this syndrome is likely inherited in an autosomal recessive fashion. 37 refs., 5 figs.

Chudley, A.E.; McCullough, C.; McCullough, D.W. [Univ. of Manitoba, Winnipeg (Canada)] [Univ. of Manitoba, Winnipeg (Canada)

1997-01-31

391

Anesthetic management of emergent laparoscopic bilateral adrenalectomy in a patient with a life-threatening cortisol crisis.  

PubMed

Cushing syndrome may rarely present with life-threatening hypercortisolism, manifested by hypertension, hypokalemia, hyperglycemia, and edema. If medical treatment proves ineffective in ameliorating the symptoms, emergent rescue adrenalectomy may be the only way to relieve the crisis. We describe the anesthetic management of a patient with an ectopic adrenocorticotropic hormone-secreting tumor, whose condition was rapidly deteriorating due to severe cortisol excess, and emergent adrenalectomy was the only available therapeutic modality. Despite severe metabolic derangement, edema, and incipient respiratory failure, emergent bilateral laparoscopic adrenalectomy was performed and the patient improved sufficiently to undergo surgery for the ectopic lesion without incident. PMID:25611000

Sharma, Ankur; Subramaniam, Rajeshwari; Misra, Mahesh; Joshiraj, Bandi; Krishnan, Gopi; Varma, Prerna; Kishore, Shyam

2015-01-15

392

Kousseff syndrome: A fifth case?  

SciTech Connect

Kousseff originally described three siblings with an open sacral myelomeningocele, conotruncal cardiac malformations, low-set, posteriorly rotated ears, retrognathia, a short neck with a low posterior hairline, and renal agenesis as a new autosomal recessive condition. Open neural tube lesions and complex conotruncal cardiac defects are relatively common malformations, both as isolated defects and individually as components of syndromes, but they have been found together only rarely, as part of chromosomal syndromes or following maternal exposures. Toriello et al. reported a fourth case and suggested the eponym Kousseff syndrome for myelomeningcocele, conotruncal defects and minor facial abnormalies. We report a fifth probable case. This male infant was born by spontaneous vaginal delivery at 38 weeks gestation to a 23-year-old G{sub 2}P{sub 1001} mother. Pregnancy was complicated by an elevated alpha-fetoprotein at 16 weeks gestation, followed by an ultrasound diagnosis of an open disease. After birth, physical examination also revealed dysmorphic facies, with a bulbous nose and low-set, posteriorly rotated ears, bilateral 5th finger clinodactyly and hypotonia. Echocardiogram demonstrated complex conotruncal malformations. The patient underwent closure of the myelomeningocele but died at one month of age. Chromosomal analysis was normal (46,XY). Because conotruncal heart defects have been associated with deletions on chromosome 22, FISH analysis using a probe for the DiGeorge syndrome on the long arm of chromosome 22 was performed. It indicated no detectable deletion within this critical region on 22q11. Nonetheless there remains the possibility of a gene (or genes) located on 22q that could produce findings of this rare multiple congenital anomaly syndrome when disrupted. Therefore, further investigation on this chromosome is warranted.

Laux, R.A. [Foundation for Blood Research, Portland, ME (United States); Hamilton, W.; Pinette, M. [Maine Medical Center, Portland, ME (United States)] [and others

1994-09-01

393

Strongyloides stercoralis induced bilateral blood stained pleural effusion in patient with recurrent Non-Hodgkin lymphoma.  

PubMed

Infections and malignancies are common causes of pleural effusion. Among infectious causes, hyperinfection syndrome of Strongyloides stercoralis may occur in immunosuppressive patient. A 62-year-old man, known case of Non-Hodgkin lymphoma (NHL) was presented with recurrent NHL stage IV and had undergone salvage chemotherapy. Patient subsequently developed pneumonia with bilateral pleural effusion and ascites. We reported rhabditiform larvae of S. stercoralis in pleural fluid of both lungs without infiltration by lymphoma cells. Stool for microscopic examination also revealed rhabditiform larvae of S. stercoralis. This patient was a known case of NHL receiving chemotherapy resulting in immunosuppression state. Although S. stercoralis infection is not very common compared to other parasitic infections, it is common in immunosuppressive patients and may present with hyperinfection. Therefore, awareness of this parasite should be kept in mind in immunosuppressive patients. PMID:21602770

Win, T T; Sitiasma, H; Zeehaida, M

2011-04-01

394

Goldenhar syndrome.  

PubMed

Goldenhar syndrome is a syndrome of complex structures developing from first and second branchial arches during blastogenesis. The etiology of this rare disease is not fully understood, as it has shown itself variable genetically and of unclear causes. The disorder is characterized by a wide spectrum of symptoms and physical features that may vary greatly in range and severity from case to case. Here we present a unique case of Goldenhar syndrome with absence of left condyle, hypoplasia of the zygomatic bone, no pneumatization of the mastoid process, underdeveloped mandible, bifid tongue and the skin tags in the preauricular area. PMID:23852257

Sharma, Neeraj; Passi, Sidhi

2013-01-01

395

Olmsted Syndrome  

PubMed Central

Olmsted syndrome is a rare congenital, sharply circumscribed transgredient palmoplantar keratoderma. It was first described by Olmsted in 1927. The diagnosis of this rare disease depends on clinical features like symmetrical involvement of keratoderma of the palms and soles and the symmetrical hyperkeratotic plaques around the body orifices. It starts in the neonatal period or in childhood. The disease has a slow but progressive and extremely disabling course. Treatment of Olmsted syndrome is often based on topical therapy with retinoic acid, corticosteroid, emollients, and keratolytics. The present paper describes a case of Olmsted syndrome and its treatment. PMID:23320205

Elise Tonoli, Renata; De Villa, Damiê; Hübner Frainer, Renata; Pizzarro Meneghello, Luana; Ricachnevsky, Nelson; de Quadros, Maurício

2012-01-01

396

Neuroacanthocytosis Syndromes  

PubMed Central

Neuroacanthocytosis (NA) syndromes are a group of genetically defined diseases characterized by the association of red blood cell acanthocytosis and progressive degeneration of the basal ganglia. NA syndromes are exceptionally rare with an estimated prevalence of less than 1 to 5 per 1'000'000 inhabitants for each disorder. The core NA syndromes include autosomal recessive chorea-acanthocytosis and X-linked McLeod syndrome which have a Huntington´s disease-like phenotype consisting of a choreatic movement disorder, psychiatric manifestations and cognitive decline, and additional multi-system features including myopathy and axonal neuropathy. In addition, cardiomyopathy may occur in McLeod syndrome. Acanthocytes are also found in a proportion of patients with autosomal dominant Huntington's disease-like 2, autosomal recessive pantothenate kinase-associated neurodegeneration and several inherited disorders of lipoprotein metabolism, namely abetalipoproteinemia (Bassen-Kornzweig syndrome) and hypobetalipoproteinemia leading to vitamin E malabsorption. The latter disorders are characterized by a peripheral neuropathy and sensory ataxia due to dorsal column degeneration, but movement disorders and cognitive impairment are not present. NA syndromes are caused by disease-specific genetic mutations. The mechanism by which these mutations cause neurodegeneration is not known. The association of the acanthocytic membrane abnormality with selective degeneration of the basal ganglia, however, suggests a common pathogenetic pathway. Laboratory tests include blood smears to detect acanthocytosis and determination of serum creatine kinase. Cerebral magnetic resonance imaging may demonstrate striatal atrophy. Kell and Kx blood group antigens are reduced or absent in McLeod syndrome. Western blot for chorein demonstrates absence of this protein in red blood cells of chorea-acanthocytosis patients. Specific genetic testing is possible in all NA syndromes. Differential diagnoses include Huntington disease and other causes of progressive hyperkinetic movement disorders. There are no curative therapies for NA syndromes. Regular cardiologic studies and avoidance of transfusion complications are mandatory in McLeod syndrome. The hyperkinetic movement disorder may be treated as in Huntington disease. Other symptoms including psychiatric manifestations should be managed in a symptom-oriented manner. NA syndromes have a relentlessly progressive course usually over two to three decades. PMID:22027213

2011-01-01

397

Adrenocorticotropin hypersecretion and pituitary microadenoma following bilateral adrenalectomy in a patient with classic 21-hydroxylase deficiency.  

PubMed

Bilateral adrenalectomy is an acceptable alternative treatment in salt-wasting 21-hydroxylase deficiency when conventional steroid replacement therapy fails to control hyperandrogenism. Objections to surgical adrenalectomy have been based on surgical risk, possible loss of protective adrenal function, and the risk of ACTH-induced activation of adrenal rest tissue. We report a young female with salt-wasting CAH, who underwent bilateral adrenalectomy and developed severe hyperpigmentation, progressively marked corticotropin hypersecretion to concentrations seen in Nelson's syndrome (5,000-7,000 pg/ml), a pituitary microadenoma 5 years postoperatively, and probable ectopic adrenal rest tissue. Corticotropin concentrations failed to respond to ovine corticotropin-releasing hormone (oCRH) (1 microg/kg given as an i.v. bolus), but did suppress following both hydrocortisone administration (100 mg given as an i.v. bolus) and a low dose (0.5 mg given orally every 6 h for 48 h) dexamethasone suppression test. Patients with CAH have hyperactivity of the hypothalamic-pituitary-adrenal axis and are at risk for pituitary tumor formation. PMID:15679075

Charmandari, Evangelia; Chrousos, George P; Merke, Deborah P

2005-01-01

398

The role of bilateral adrenalectomy in the treatment of refractory Cushing's disease.  

PubMed

Cushing's syndrome (CS) results from sustained exposure to excessive levels of free glucocorticoids. One of the main causes of CS is excessive adrenocorticotropic hormone (ACTH) secretion by tumors in the pituitary gland (Cushing's disease [CD]). Cushing's disease and its associated hypercortisolism have a breadth of debilitating symptoms associated with an increased mortality rate, warranting urgent treatment. Currently, the first line of treatment for CD is transsphenoidal surgery (TSS), with excellent long-term results. Transsphenoidal resections performed by experienced surgeons have shown remission rates ranging from 70% to 90%. However, some patients do not achieve normalization of their hypercortisolemic state after TSS and continue to have persistent or recurrent CD. For these patients, various therapeutic options after failed TSS include repeat TSS, radiotherapy, medical therapy, and bilateral adrenalectomy (BLA). Bilateral adrenalectomy has been shown to be a safe and effective treatment modality for persistent or recurrent CD with an immediate and definitive cure of the hypercortisolemic state. BLA was traditionally performed through an open approach, but since the advent of laparoscopic adrenalectomy, the laparoscopic approach has become the surgical method of choice. Advances in technology, refinement in surgical skills, competency in adrenopathology, and emphasis on multidisciplinary collaborations have greatly reduced morbidity and mortality associated with adrenalectomy surgery in a high-risk patient population. In this article, the authors review the role of BLA in the treatment of refractory CD. The clinical indications, current surgical and endocrinological results reported in the literature, surgical technique (open vs laparoscopic), drawbacks, and complications of BLA are discussed. PMID:25639327

Wong, Anni; Eloy, Jean Anderson; Liu, James K

2015-02-01

399

Bilateral medial patellofemoral ligament reconstruction in high-level athletes.  

PubMed

This report presents two cases of high-level athletes with bilateral patellar dislocations who were able to return to their preinjury level of activity after bilateral medial patellofemoral ligament (MPFL) reconstruction, without any major complications. Patient 1 was a 19-year-old male volleyball player for a top-level college volleyball team, and patient 2 was a 24-year-old woman who was a member of a national-level adult softball team. MPFL reconstruction could be an effective treatment for bilateral patellar dislocation in high-level athletes. Level of evidence V. PMID:24744173

Kuroda, Yuichi; Matsushita, Takehiko; Matsumoto, Tomoyuki; Kawakami, Yohei; Kurosaka, Masahiro; Kuroda, Ryosuke

2014-10-01

400

A rare case of bilateral orbital Castleman disease.  

PubMed

Castleman disease is a non-neoplastic cause of lymphadenopathy, first described in 1956 by Dr. Benjamin Castleman. Orbital involvement in Castleman disease is extremely rare. We report a case of bilateral orbital Castleman disease in a 48-year-old Asian male who presented with bilateral inferior dystopia. MRI revealed bilateral extraconal superior orbital mass. Histopathology and immunohistochemistry of the mass revealed features of Castleman disease of hyaline vascular type. Castleman disease should be a differential in suspected idiopathic orbital inflammatory disease and lymphoproliferative disorders. PMID:24831817

Mukherjee, Bipasha; Alam, Mohammad Shahid; Krishnakumar, S

2014-08-01

401

Bilateral putaminal necrosis and bronopol toxicity.  

PubMed

Among alcohols, methanol intoxication is the most frequently associated with cerebral toxicity, causing retinal damage and putaminal necrosis. This consequence is believed to be due to the transformation of methanol into formic acid. We describe the case of a patient who presented with acute impairment of consciousness and tetraparesis after she had been drinking several bottles of a topical antiseptic solution (Lysoform Medical) containing 2-bromo-2-nitro-1,3-propandiol (bronopol) among excipients, in order to lose weight during previous months. Moreover, she had been on a strict slimming diet. Soon after admission, a severe respiratory and metabolic impairment became rapidly evident, requiring an intensive care unit admission. Cerebral MRI showed the presence of bilateral putaminal necrosis. She recovered in 10?days, surprisingly, without any evident clinical neurological signs. Methanol, also bronopol, when diluted in aqueous solution, at warm temperature and/or higher pH, may release formaldehyde, which is converted into formic acid, a basal ganglia toxic compound. PMID:25697297

Trivisano, Marina; Carapelle, Elena; Martino, Tommaso; Specchio, Luigi Maria

2015-01-01

402

Bilateral multiple renal vessels: a case report.  

PubMed

The kidneys receive arterial supply from the paired renal arteries. During routine dissection we observed in an adult male cadaver the following variation. Bilateral variation is seen in 5%-10% of individuals. The right kidney was receiving 3 renal arteries. Two were arising from the abdominal aorta just below the origin of superior mesenteric artery and the 3(rd) artery was arising from aorta, below the origin of Inferior Mesenteric artery. The left kidney received 2 renal arteries, both arising from aorta at a lower level than right, just below the origin of superior mesenteric artery. On the right side, 2 renal veins were independently draining into inferior vena cava. It is important to be able to depict all accessory renal arteries, because accessory renal arteries are end arteries.The main clinical significance of arteries entering the lower pole is that they may obstruct the ureter and lead to hydronephrosis. It is important to consider these results while using non-angiographic, non-invasive methods for investigating renal artery stenosis, as well as, during surgeries related to renal arteries. PMID:24596748

Deshpande, Sulabha Hanumant; Bannur, Balappa Muregappa; Patil, Babasaheb Gurusiddappagoud

2014-01-01

403

Bilateral Multiple Renal Vessels: A Case Report  

PubMed Central

The kidneys receive arterial supply from the paired renal arteries. During routine dissection we observed in an adult male cadaver the following variation. Bilateral variation is seen in 5%-10% of individuals. The right kidney was receiving 3 renal arteries. Two were arising from the abdominal aorta just below the origin of superior mesenteric artery and the 3rd artery was arising from aorta, below the origin of Inferior Mesenteric artery. The left kidney received 2 renal arteries, both arising from aorta at a lower level than right, just below the origin of superior mesenteric artery. On the right side, 2 renal veins were independently draining into inferior vena cava. It is important to be able to depict all accessory renal arteries, because accessory renal arteries are end arteries.The main clinical significance of arteries entering the lower pole is that they may obstruct the ureter and lead to hydronephrosis. It is important to consider these results while using non-angiographic, non-invasive methods for investigating renal artery stenosis, as well as, during surgeries related to renal arteries. PMID:24596748

Deshpande, Sulabha Hanumant; Bannur, Balappa Muregappa; Patil, Babasaheb Gurusiddappagoud

2014-01-01

404

Rehabilitation for bilateral amputation of fingers  

USGS Publications Warehouse

We describe reconstructive surgeries, therapy, prostheses, and adaptations for a patient who experienced bilateral amputation of all five fingers of both hands through the proximal phalanges in January 1992. The patient made considerable progress in the use of his hands in the 10 mo after amputation, including nearly a 120% increase in the active range of flexion of metacarpophalangeal joints. In late 1992 and early 1993, the patient had "on-top plasty" surgeries, in which the index finger remnants were transferred onto the thumb stumps, performed on both hands. The increased web space and functional pinch resulting from these procedures made many tasks much easier. The patient and occupational therapists set challenging goals at all times. Moreover, the patient was actively involved in the design and fabrication of all prostheses and adaptations or he developed them himself. Although he was discharged from occupational therapy in 1997, the patient continues to actively find new solutions for prehension and grip strength 18 yr after amputation.

Stapanian, Martin A.; Stapanian, Adrienne M.P.; Staley, Keith E.

2010-01-01

405

[Bilateral ageusia caused by right thalamic infarction].  

PubMed

A 58-year-old man noticed left hemiparesis at 01:00 pm on a particular day in March 2006. Because his symptoms developed gradually, he was referred to the emergency room of our hospital at 05:00 pm and was admitted with the diagnosis of cerebral infarction. While he presented slight left hemiparesis involving the face, impairment of sensation was not apparent. Diffusion-weighted magnetic resonance imaging of the head showed a high-intensity area in the ventromedial area in the right thalamus. The patient was treated with anticoagulant and edaravone, and his symptoms resolved on hospital day 3. When he began eating, he noticed that he was unable to distinguish tastes. On day 5, we performed taste examination using a commercial kit. The taste sensation on both sides of his tongue was severely affected, while the touch sensations in the mouth and olfaction were preserved. His symptoms improved spontaneously and resolved on hospital day 15. This is the second case report of bilateral ageusia caused by right thalamic infarction. Our study indicates the importance of the right thalamus in taste sensation involving both sides of the tongue. PMID:23328062

Kogawa, Shuro; Yamakawa, Isamu; Nakajima, Atsushi; Yamada, Syu

2013-01-01

406

Williams Syndrome What causes Williams syndrome?  

E-print Network

Williams Syndrome What causes Williams syndrome? Individuals with Williams syndrome usually in 1961, Williams syndrome affects males and females at equal rates and has been diagnosed in all ethnicities and socioeconomic backgrounds. What are the effects of Williams syndrome? While every individual

Palmeri, Thomas

407

Nephrotic Syndrome  

MedlinePLUS

... syndrome comes back after going away. In that case, treatment would begin again until the child outgrows the condition or it improves on its own. Reviewed by: Robert S. ... Reflux (VUR) Your Urinary System Your Kidneys ...

408

Klinefelter Syndrome  

MedlinePLUS

... and guys' bodies begin to make sex hormones, boys with Klinefelter usually don't produce as much ... can affect things like penis and testicle growth. Boys with Klinefelter syndrome may also have problems with ...

409

Cushing Syndrome  

MedlinePLUS

... Shlomo, M., Polonsky, K.S, Larsen, P.R., eds. Williams. Textbook of Endocrinology. 12th ed. Philadelphia, Pa: ... mutation linked to severe form of Cushing’s syndrome Two copies of mutant gene may trigger rare ...

410

Behcet's Syndrome  

MedlinePLUS

Behcet's syndrome is a disease that involves inflammation of the blood vessels. It causes problems in many parts of the body. The most common symptoms ... National Institute of Arthritis and Musculoskeletal and Skin Diseases

411

Cushing's Syndrome  

MedlinePLUS

... cause is long-term exposure to too much cortisol, a hormone that your adrenal gland makes. Sometimes, ... can cause your body to make too much cortisol. Cushing's syndrome is rare. Some symptoms are Upper ...

412

Thalassemia syndrome.  

PubMed

A 16 years old female patient diagnosed to have thalassemia syndrome in Black lion Hospital based on clinical presentation, complete blood count, peripheral morphology and bone marrow findings. PMID:25069213

Sherif, Abdulaziz A; G/Medhin, Amha; Tadesse, Fisihatsion; Tsegaye, Tewodros

2014-01-01

413

Fahr's Syndrome  

MedlinePLUS

... Fahr's Syndrome can also include symptoms characteristic of Parkinson's disease such as tremors, muscle rigidity, a mask-like ... a CT scan could be negative in a gene carrier who is younger than the age of ...

414

Caplan syndrome  

MedlinePLUS

... who have been exposed to mining dust containing coal. The lung disease is called coal worker's pneumoconiosis . ... Caplan syndrome is caused by breathing in coal mining dust. This ... small lung lumps (nodules) and mild asthma-like airway disease. ...

415

Paraneoplastic Syndromes  

PubMed Central

Neoplasms can produce a variety of remote effects on the host; these are referred to as paraneoplastic syndromes. The syndromes may affect any of the systems of the body, may precede or follow the diagnosis of the underlying neoplasm, and may or may not parallel the course of the neoplasm in severity. The diagnosis of and therapy for these syndromes can be challenging to a physician, but successful therapy may bring about worthwhile relief for the patient. In addition, the syndromes and the substances that cause them are sometimes useful in diagnosing and in following the course of certain neoplasms. Perhaps of greater importance, study of these remote effects of neoplasia may shed light on the nature of the neoplastic process itself. PMID:6990627

Stolinsky, David C.

1980-01-01

416

Aicardi syndrome  

MedlinePLUS

... and 5 months. The condition causes jerking (infantile spasms), a type of childhood seizure. Aicardi syndrome may ... missing Female sex Seizures (typically beginning as infantile spasms) Sores on the retina (retinal lesions) or optic ...

417

Noonan syndrome  

MedlinePLUS

... EKG , chest x-ray , or echocardiogram Hearing tests Growth hormone levels Genetic testing can help diagnose this syndrome. ... will suggest treatment to relieve or manage symptoms. Growth hormone has been used successfully to treat short height ...

418

Down Syndrome  

MedlinePLUS

... or problems with their heart, stomach or eyes. Intelligence ranges from low normal to very retarded (slow ... a baby who has Down syndrome will be. Intelligence ranges from low normal to very retarded (slow ...

419

Asperger syndrome  

MedlinePLUS

... is often considered a high functioning form of autism. It can lead to difficulty interacting socially, repeat ... syndrome is a pervasive developmental disorder (PDD) or autism spectrum disorder (ASD). The main difference between Asperger ...

420

Asperger Syndrome  

MedlinePLUS

... AS) is a developmental disorder. It is an autism spectrum disorder (ASD), one of a distinct group ... of thought and behavior. Other ASDs include: classic autism, Rett syndrome, childhood disintegrative disorder, and pervasive developmental ...

421

Hurler syndrome  

MedlinePLUS

Enzyme replacement therapy for Hurler syndrome adds a working form of the missing enzyme to the body. The medication, called laronidase (Aldurazyme), is given through a vein (intravenously). Talk to your ...

422

Usher Syndrome  

MedlinePLUS

... the loss of hearing and vision. Top Is genetic testing for Usher syndrome available? So far, 11 genetic ... usually performed through hearing, balance, and vision tests. Genetic testing for a few of the identified genes is ...

423

Premenstrual syndrome  

MedlinePLUS

... feeling gassy Breast tenderness Clumsiness Constipation or diarrhea Food cravings Headache Less tolerance for noises and lights ... Cochrane Database Syst Rev. 2009;2:CD001396. Lentz GM. Primary and secondary dysmenorrhea, premenstrual syndrome, and premenstrual ...

424

Chronic bilateral dislocation of temporomandibular joint.  

PubMed

Dislocation of the condyle of the mandible is a common condition that may occur in an acute or chronic form. It is characterised by inability to close the mouth with or without pain. Dislocation has to be differentiated from subluxation which is a self reducible condition. Dislocation can occur in any direction with anterior dislocation being the commonest one. Various predisposing factors have been associated with dislocation like muscle fatigue and spasm, the defect in the bony surface like shallow articular eminence, and laxity of the capsular ligament. People with defect in collagen synthesis like Ehler Danlos syndrome, Marfan syndrome are said to be genetically predisposed to this condition. Various treatment modalities have been used ranging from conservative techniques to surgical methods. Acute dislocations can be reduced manually or with conservative approach and recurrent and chronic cases can be reduced by surgical intervention. Though the dislocation in our case was 4 months a simple manual reduction proved to be successful. We believe that manual reduction can be attempted as first line of treatment prior to surgical intervention. PMID:21209547

Shakya, S; Ongole, R; Sumanth, K N; Denny, C E

2010-01-01

425

[Netherton syndrome].  

PubMed

Netherton syndrome is a rare disease inherited as an autosomal recessive trait due to mutations in the SPINK5 gene. It is characterized by the triad of ichthyosiform dermatosis, alterations of the hair shaft and immunological disorders. We present the case of a 12-year-old girl with the triad of ichthyosis linearis circumflexa, trichorrhexis invaginata and atopic dermatitis, characteristic of Netherton syndrome. PMID:16956571

Serra-Guillén, Carlos; Torrelo, Antonio; Drake, Marta; Armesto, Susana; Fernández-Llaca, Héctor; Zambrano, Antonio

2006-06-01

426

Hyperventilation syndrome  

Microsoft Academic Search

The hyperventilation syndrome, primary alveolar hyperventilation and respiratory alkalosis accompanied by various signs and\\u000a symptoms, occurs in about 6–11% of the general patient population. The causes of hyperventilation are: 1) organic and physiologic\\u000a and, 2) psychogenic (emotional\\/habit). Hyperventilation syndrome excludes hyperventilation that is compensatory or caused\\u000a by organic or physiologic factors. Acute or chronic anxiety is usually considered the predominant

Richard E. Brashear

1983-01-01

427

Combined exfoliation and pigment dispersion syndrome.  

PubMed

Both exfoliation syndrome and pigmentary dispersion syndrome can lead to secondary glaucoma. We treated five patients who had pigmentary dispersion and who subsequently developed exfoliation. In one patient who had bilateral pigment dispersion syndrome, the presence of exfoliation increased the difficulty of controlling intraocular pressure in the affected eye. In a monocular patient, exfoliation and pigmentary dispersion were concurrently present with characteristic defects of both pigmentary dispersion and exfoliation as seen by transillumination defects of the iris. A third patient had bilateral pigmentary dispersion and uncontrollable intraocular pressure in an eye with exfoliation. Despite argon laser trabeculoplasty, the pressure remained uncontrolled. Another patient had a filtering operation in the left eye, with gradually increasing intraocular pressure in the right eye. Exfoliation material complicated the pressure control in the unoperated on eye. Another patient had an eight-year history of glaucoma in the left eye for which filtering surgery was performed. Exfoliation was present in both eyes with controlled pressure in the filtered eye but uncontrolled pressure in the nonfiltered eye. PMID:2333916

Layden, W E; Ritch, R; King, D G; Teekhasaenee, C

1990-05-15

428

Alagille syndrome.  

PubMed Central

Alagille syndrome (OMIM 118450) is an autosomal dominant disorder associated with abnormalities of the liver, heart, eye, skeleton, and a characteristic facial appearance. Also referred to as the Alagille-Watson syndrome, syndromic bile duct paucity, and arteriohepatic dysplasia, it is a significant cause of neonatal jaundice and cholestasis in older children. In the fully expressed syndrome, affected subjects have intrahepatic bile duct paucity and cholestasis, in conjunction with cardiac malformations (most frequently peripheral pulmonary stenosis), ophthalmological abnormalities (typically of the anterior chamber with posterior embryotoxon being the most common), skeletal anomalies (most commonly butterfly vertebrae), and characteristic facial appearance. Inheritance is autosomal dominant, but expressivity is highly variable. Sibs and parents of probands are often found to have mild expression of the presumptive disease gene, with abnormalities of only one or two systems. The frequency of new mutations appears relatively high, estimated at between 15 and 50%. The disease gene has been mapped to chromosome 20 band p12 based on multiple patients described with cytogenetic or molecular rearrangements of this region. However, the frequency of detectable deletions of 20p12 is low (less than 7%). Progress has been made in the molecular definition of an Alagille syndrome critical region within the short arm of chromosome 20. We will review the clinical, genetic, cytogenetic, and molecular findings in this syndrome. Images PMID:9039994

Krantz, I D; Piccoli, D A; Spinner, N B

1997-01-01

429

[Diencephalic syndrome].  

PubMed

Diencephalic structures are thalamus, hypothalamus, epithalamus, subthalamus and hypophysis. Diencephalic structures injury lead to several syndromes: diencephalic dysthermia, hypothalamic obesity, pediatric diencephalic syndrome, Cushing's disease, etc. Diencephalic syndrome manifests in 15-33% of patients with TBI. The goal of our study was to describe diencepalic syndrome in patients in neurointensive care unit. 76 patients took part in the study, 43 women and 33 men among them. The age of patients ranged from 19 to 77 years. All patients had consciousness disorders (CD) and dysnatremia. The patients were divided into 6 groups according to the number of somatic organ dysfunctions (SOD). 12 patients had only dysnatremia and CD without SOD (91.7% of them with benign outcome; 7.3% of them with poor outcome (GOS-3)). 11 patients in the second group had CD, dysnatremia and 1 SOD (45.5% of them had benign outcome; 54.5%--poor outcome). In the third group patients had 2 SOD (42% of them had poor outcome (GOS-3) and 33%--lethal outcome (GOS-1)). The worst outcome was in the 6th group, where patients had 5 SOD. All the patients in that group died. So, in patients with neurosurgical pathology in chiasmal area dienchephalic syndrome manifests by combination of CD, dysnatremia and at least 1 SOD. The number of SOD determines the outcome and severity of diencephalic syndrome. PMID:23082645

2012-01-01

430

Early deprivation impairs the development of balance and bilateral coordination.  

PubMed

This study examined balance and bilateral coordination skills in a sample of internationally adopted, post-institutionalized (PI) children. We compared the performance of these PI children to two age-matched groups. One was a group of children who were internationally adopted from foster care (FC). The second group consisted of non-adopted children being raised in their birth families, who served as controls (Control). Both PI and FC children scored lower than control children on balance, while PI children scored lower than both FC and control children on bilateral coordination. These results suggest that aspects of institutional rearing impact the development of bilateral coordination, while factors common to internationally adopted children other than institutionalization impact the development of balance. Region of birth (Asia, Latin/South America, Russia/Eastern Europe) did not moderate associations between institutional duration and bilateral coordination. PMID:24014461

Roeber, Barbara J; Gunnar, Megan R; Pollak, Seth D

2014-07-01

431

Bilateral primary adrenal non-Hodgkin's lymphoma without adrenal insufficiency.  

PubMed

We are presenting a rare case of bilateral adrenal non-Hodgkin's lymphoma (NHL) that presented as a primary malignancy. An 83-year-old man presented with newly discovered bilateral adrenal incidentalomas, fatigue, and 30 pound weight loss. Of the 116 cases of primary adrenal NHL reported, over half have presented bilaterally and occur with adrenal insufficiency. Therefore, the finding of bilateral adrenal masses requires an urgent work-up of the functional status of the adrenal gland as well as a thorough analysis of the imaging characteristics seen on noncontrast computed tomography (CT) in order to maximize patient survival. Adrenal function testing was normal. Repeat CT imaging revealed rapidly growing lesions with high attenuations; both masses >10 HU. Histological examination of core biopsies discovered malignant lymphoma with no known past history of lymphoma. Our case coincides with the literature, which states that a mass with attenuation >10 HU in the adrenal glands has a high risk of malignancy. PMID:25837497

Simpson, William Greg; Babbar, Paurush; Payne, Lynnetta Faith

2015-01-01

432

Cooled Radiofrequency Ablation for Bilateral Greater Occipital Neuralgia  

PubMed Central

This report describes a case of bilateral greater occipital neuralgia treated with cooled radiofrequency ablation. The case is considered in relation to a review of greater occipital neuralgia, continuous thermal and pulsed radiofrequency ablation, and current medical literature on cooled radiofrequency ablation. In this case, a 35-year-old female with a 2.5-year history of chronic suboccipital bilateral headaches, described as constant, burning, and pulsating pain that started at the suboccipital region and radiated into her vertex. She was diagnosed with bilateral greater occipital neuralgia. She underwent cooled radiofrequency ablation of bilateral greater occipital nerves with minimal side effects and 75% pain reduction. Cooled radiofrequency ablation of the greater occipital nerve in challenging cases is an alternative to pulsed and continuous RFA to alleviate pain with less side effects and potential for long-term efficacy. PMID:24716017

Chhatre, Akhil

2014-01-01

433

Sound localization and interaural time sensitivity with bilateral cochlear implants  

E-print Network

Bilateral cochlear implantation is becoming more common as clinicians attempt to provide better sound-source localization and speech reception in noise for cochlear implant (CI) users. While some improvement over the ...

Poon, Becky Bikkei

2006-01-01

434

Bilateral fractures of Hydroflex penile prostheses: an unusual complication.  

PubMed

We report bilaterally fractured Hydroflex implants in 2 patients. One fracture was complete and three were incomplete. All the fractures occurred at the junction of the rear reservoir and the inflation chamber. PMID:7786448

Kim, S C; Chang, Y S; Ahn, S Y

1994-12-01

435

Genetics Home Reference: Congenital bilateral absence of the vas deferens  

MedlinePLUS

... progressive damage to the respiratory system and chronic digestive system problems. Many men with congenital bilateral absence of ... lubricates and protects the linings of the airways, digestive system, reproductive system, and other organs and tissues. Mutations ...

436

Bilateral primary adrenal non-Hodgkin's lymphoma without adrenal insufficiency  

PubMed Central

We are presenting a rare case of bilateral adrenal non-Hodgkin's lymphoma (NHL) that presented as a primary malignancy. An 83-year-old man presented with newly discovered bilateral adrenal incidentalomas, fatigue, and 30 pound weight loss. Of the 116 cases of primary adrenal NHL reported, over half have presented bilaterally and occur with adrenal insufficiency. Therefore, the finding of bilateral adrenal masses requires an urgent work-up of the functional status of the adrenal gland as well as a thorough analysis of the imaging characteristics seen on noncontrast computed tomography (CT) in order to maximize patient survival. Adrenal function testing was normal. Repeat CT imaging revealed rapidly growing lesions with high attenuations; both masses >10 HU. Histological examination of core biopsies discovered malignant lymphoma with no known past history of lymphoma. Our case coincides with the literature, which states that a mass with attenuation >10 HU in the adrenal glands has a high risk of malignancy.

Simpson, William Greg; Babbar, Paurush; Payne, Lynnetta Faith

2015-01-01

437

A case of bilateral tibial hemimelia type VIIa  

PubMed Central

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. PMID:23901205

Chinnakkannan, Selvakumar; Das, Rashmi Ranjan; Rughmini, K.; Ahmed, Sufath

2013-01-01

438

Interactions between bilaterally paired components of the cockroach circadian system  

Microsoft Academic Search

The hypothesis that bilaterally redundant, and mutually coupled circadian pacemakers are located near the lobula of the optic lobes of the cockroach,Leucophaea maderae, was investigated in a series of lesion experiments.

Terry L. Page

1978-01-01

439

Chronic Fatigue Syndrome  

MedlinePLUS

... she had chronic fatigue syndrome. What Is Chronic Fatigue Syndrome? Chronic fatigue syndrome (CFS) is a complicated disease for doctors ... this and CFS. Continue Who Gets CFS? Chronic fatigue syndrome can affect people of all ages and ...

440

Williams Syndrome: Neuroimaging,  

E-print Network

Williams Syndrome: Genetics, Neuroimaging, Cognition, and Clinical Issues Williams Syndrome Conference on Williams Syndrome Proceedings of the 12 International Professional Conference on Williams by: The Williams Syndrome Association and Hosted by: The Salk Institute Orange County, CA July 13

441

Tethered Spinal Cord Syndrome  

MedlinePLUS

NINDS Tethered Spinal Cord Syndrome Information Page Table of Contents (click to jump to sections) What is Tethered Spinal Cord Syndrome? Is ... being done? Clinical Trials Organizations What is Tethered Spinal Cord Syndrome? Tethered spinal cord syndrome is a neurological ...

442

Central Pain Syndrome  

MedlinePLUS

NINDS Central Pain Syndrome Information Page Table of Contents (click to jump to sections) What is Central Pain Syndrome? Is there ... being done? Clinical Trials Organizations What is Central Pain Syndrome? Central pain syndrome is a neurological condition ...

443

Craniofacial Syndrome Descriptions  

MedlinePLUS

... rapidly growing endothel or vascular cells. Hemifacial Microsomia/Goldenhar syndrome Microtia/Atresia CCA's A Guide to Understanding ... palsy • Fibrous dysplasia • Frontonasal dysplasia • Hemangioma • Hemifacial Microsomia / Goldenhar syndrome • Microtia/Atresia • Miller syndrome • Moebius syndrome • Nager ...

444

Down Syndrome (For Parents)  

MedlinePLUS

About Down Syndrome Down syndrome (DS), also called Trisomy 21, is a condition in which extra genetic material causes delays ... rises to about 1 in 100. Continue How Down Syndrome Affects Kids Kids with Down syndrome tend to ...

445

Hyperimmunoglobulin E syndrome  

MedlinePLUS

Job syndrome; Hyper IgE syndrome ... Hyperimmunoglobulin E syndrome is also called Job syndrome, after the biblical character Job whose faithfulness was tested by an affliction with draining skin sores and pustules . People with this ...

446

Tics and Tourette Syndrome  

MedlinePLUS

MENU Return to Web version Tics and Tourette Syndrome Overview What is Tourette syndrome? Tourette syndrome is a type of tic disorder. Children who have Tourette syndrome will repeat both movements ...

447

Androgen insensitivity syndrome  

MedlinePLUS

... of the penis Reifenstein syndrome (also known as Gilbert-Dreyfus syndrome or Lubs syndrome) Infertile male syndrome ... HM, Schlomo M, Polansky KS, Larsen PR, eds. Williams Textbook of Endocrinology . 11th ed. St. Louis, Mo: ...

448

Prepubertal Gynecomastia in Two Monozygotic Twins with Peutz-Jeghers Syndrome: Two Years’ Treatment with Anastrozole and Genetic Study  

Microsoft Academic Search

Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder characterized by multiple gastrointestinal hamartomatous polyps, mucocutaneous pigmentation and increased predisposition to neoplasms. Endocrine manifestations in PJS include gynecomastia and advanced bone age due to estrogen production by large-cell calcifying Sertoli cell tumors (LSCT). We present two 9-year-old male monozygotic twins, with PJS, bilateral progressive prepubertal gynecomastia and testicular bilateral multifocal

Anna Grandone; Emanuele Miraglia del Giudice; Grazia Cirillo; Michele Santarpia; Filomena Coppola; Laura Perrone

2011-01-01

449

Recurrent Bilateral Breast Abscess Due to Nontuberculous Mycobacterial Infection  

PubMed Central

Since recurrent bilateral breast infection due to nontuberculous mycobacterium (NTM) is rare, its diagnosis is easily overlooked; in addition, complete recovery is often difficult to achieve. We report a case of recurrent bilateral infection in a 35-year-old woman who had completed treatment for NTM. Although various infectious diseases show similar clinical conditions and imaging findings, recurrences should raise suspicion of NTM infection, and this possibility should be considered in differential diagnoses. PMID:25320630

Yoo, Hyunkyung; Choi, Sang Hyun; Kim, Sei Joong; Cho, Young Up; Choi, Suk Jin

2014-01-01

450

Bilateral Central Vein Occlusion in a Case of Diaphragmatic Eventration  

PubMed Central

Central Retinal Vein Occlusion (CRVO) is a severe retinal pathology, which causes visual impairment usually after the age of 40. Mostly unilateral, less than 10% of cases are bilateral. Affected young adults (under the age of 40), usually exhibit a hidden, underlying systemic disease. Thorough testing has to be done in order to spot the pathogenic agent. We present the case of a 25 years old woman with bilateral CRVO caused by Diaphragmatic Eventration and Chronic Respiratory Failure. PMID:25705293

STER, Anda-Maria; STAN, Cristina; GHERVAN, Mihaela

2014-01-01

451

1112 Consecutive Bilateral Neck Explorations for Primary Hyperparathyroidism  

Microsoft Academic Search

Background  Bilateral neck exploration has been the standard approach for patients with primary hyperparathyroidism. Improved localization\\u000a studies and the availability of intraoperative parathyroid hormone monitoring have challenged the necessity of four-gland\\u000a exploration. In this series we report a single surgeon’s experience with bilateral neck exploration for primary hyperparathyroidism\\u000a in an effort to establish benchmark outcomes from which to evaluate minimally invasive

John Allendorf; Mary DiGorgi; Kathryn Spanknebel; William Inabnet; John Chabot; Paul LoGerfo

2007-01-01

452

Bilateral thoracoscopic thymectomy using a novel positioning system.  

PubMed

Several techniques of bilateral video-assisted thoracoscopic extended thymectomy have been proposed, and each has its own proponents. We summarize our experience in 20 patients who underwent bilateral video-assisted thoracoscopic extended thymectomy, using a new patient positioning that amplifies the thoracoscopic view of the cardiophrenic regions which are often difficult to visualize with standard techniques. In all cases, en-bloc thymectomy with complete dissection of the mediastinal fatty tissue was achieved without sternal retractors or additional incisions. PMID:24887902

Caronia, Francesco; Fiorelli, Alfonso; Monte, Attilio Lo

2014-11-01

453

Bilateral thecoma presenting as premenopausal hirsutism: Laproscopic removal  

PubMed Central

Hyperandrogenism is a common disorder among women in the reproductive age group. One of the rare causes for androgen excess is sex cord- stromal tumors of the ovary. These are usually unilateral. Here we report case of a 48 year old woman who presented with hyperandrogenism due to bilateral ovarian thecoma. Androgen levels normalized following resection of the tumor. This, to the best of our knowledge, is the first case of bilateral thecoma presenting as hirsutism in a premenopausal woman. PMID:24910832

Ramkumar, S.; Jyotsna, V. P.; Mallick, S.; Kachhawa, Garima; Kandasamy, D.; Kriplani, A.; Ammini, A. C.

2013-01-01

454

Goldenhar syndrome with right circumflex aortic arch, severe coarctation and vascular ring in a twin pregnancy.  

PubMed

Goldenhar syndrome (GS) or oculo-auriculo-vertebral dysplasia (OAVD), involves a wide variety of organ systems. Cardiovascular anomalies are among the frequent malformations. The purpose of this report is to introduce a male case of a dizygotic twin pregnancy with GS and right circumflex aortic arch (RCAA), severe coarctation, hypoplastic aortic arch, aberrant right subclavian artery, vascular ring, bilateral renal artery stenosis, and mild Dandy-Walker syndrome. The embryology of RCAA and coarctation is revisited. PMID:25298700

Rad, Elaheh Malakan

2014-09-01

455

Goldenhar syndrome with right circumflex aortic arch, severe coarctation and vascular ring in a twin pregnancy  

PubMed Central

Goldenhar syndrome (GS) or oculo-auriculo-vertebral dysplasia (OAVD), involves a wide variety of organ systems. Cardiovascular anomalies are among the frequent malformations. The purpose of this report is to introduce a male case of a dizygotic twin pregnancy with GS and right circumflex aortic arch (RCAA), severe coarctation, hypoplastic aortic arch, aberrant right subclavian artery, vascular ring, bilateral renal artery stenosis, and mild Dandy-Walker syndrome. The embryology of RCAA and coarctation is revisited. PMID:25298700

Rad, Elaheh Malakan

2014-01-01

456

ORIGINAL CONTRIBUTION Bilateral Horizontal Gaze Palsy in Presumed Paraneoplastic Brainstem Encephalitis Associated With a  

E-print Network

Abstract: A 28-year-old woman with a previous history of recurrent benign ovarian teratoma developed a bilateral horizontal gaze palsy, a right facial paresis, and bilateral trigeminal hypesthesia. Magnetic resonance imaging dis-closed high signal in the rostral pons. Results of all other laboratory studies, including those for antineuronal anti-bodies (anti-Hu, anti-Yo, anti-Ri, anti-Tr, anti-Ma1, anti-Ma2, and anti-CV2/CRMP5), were negative. Pelvic ultra-sound revealed a residual mass in the left ovary, which was confirmed as teratoma on surgical pathological examina-tion. Complete neurologic recovery occurred within two weeks of surgical removal of the teratoma and treatment with intravenous corticosteroids and immunoglobulin. This case demonstrates that a search for an occult neoplasm is extremely important in the diagnosis of presumed paraneo-plastic encephalitis even if antineuronal antibodies are not found. (J Neuro-Ophthalmol 2004;24: 114–118) Paraneoplastic syndromes are remote effects of cancerthat are not directly related to tumor growth, metastases, metabolic or nutritional derangements, or side effects of therapy. The clinical manifestations of a paraneoplastic process are often the first presentation of an underlying tu-mor (1). Paraneoplastic encephalomyelitis–sensory neu-ronopathy (PEM-SN) is a well-characterized syndrome that is typically irreversible and most commonly associated with small-cell lung cancer and anti-Hu antibodies (2). The clinical manifestations are variable, including multifocal involvement of the central or peripheral nervous system or both, and brainstem or limbic encephalitis. There are a few case reports of supranuclear, nuclear, or internuclear ocular motor abnormalities affecting horizontal or vertical eye movements or both in patients with PEM-SN (3–8). We re-port a case of complete bilateral horizontal gaze palsy in a patient with a presumed paraneoplastic brainstem encepha-litis associated with a benign ovarian teratoma. Surgical re-moval of the tumor, combined with intravenous corticoste-roid and immunoglobulin treatment, rapidly reversed all neuro-ophthalmic manifestations.

Benign Ovarian Teratoma; Agnes M. F. Wong

457

Vestibular function in severe bilateral vestibulopathy  

PubMed Central

OBJECTIVES—To assess residual vestibular function in patients with severe bilateral vestibulopathy comparing low frequency sinusoidal rotation with the novel technique of random, high acceleration rotation of the whole body.?METHODS—Eye movements were recorded by electro-oculography in darkness during passive, whole body sinusoidal yaw rotations at frequencies between 0.05 and 1.6 Hz in four patients who had absent caloric vestibular responses. These were compared with recordings using magnetic search coils during the first 100 ms after onset of whole body yaw rotation at peak accelerations of 2800°/s2. Off centre rotations added novel information about otolithic function.?RESULTS—Sinusoidal yaw rotations at 0.05 Hz, peak veocity 240°/s yielded minimal responses, with gain (eye velocity/head velocity)<0.02, but gain increased and phase decreased at frequencies between 0.2 and 1.6 Hz in a manner resembling the vestibulo-ocular reflex. By contrast, the patients had profoundly attenuated responses to both centred and eccentric high acceleration transients, representing virtually absent responses to this powerful vestibular stimulus.?CONCLUSION—The analysis of the early ocular response to random, high acceleration rotation of the whole body disclosed a profound deficit of semicircular canal and otolith function in patients for whom higher frequency sinusoidal testing was only modestly abnormal. This suggests that the high frequency responses during sinusoidal rotation were of extravestibular origin. Contributions from the somatosensory or central predictor mechanisms, might account for the generation of these responses. Random, transient rotation is better suited than steady state rotation for quantifying vestibular function in vestibulopathic patients.?? PMID:11413262

Wiest, G; Demer, J; Tian, J; Crane, B; Baloh, R

2001-01-01

458

The red ear syndrome  

PubMed Central

Red Ear Syndrome (RES) is a very rare disorder, with approximately 100 published cases in the medical literature. Red ear (RE) episodes are characterised by unilateral or bilateral attacks of paroxysmal burning sensations and reddening of the external ear. The duration of these episodes ranges from a few seconds to several hours. The attacks occur with a frequency ranging from several a day to a few per year. Episodes can occur spontaneously or be triggered, most frequently by rubbing or touching the ear, heat or cold, chewing, brushing of the hair, neck movements or exertion. Early-onset idiopathic RES seems to be associated with migraine, whereas late-onset idiopathic forms have been reported in association with trigeminal autonomic cephalalgias (TACs). Secondary forms of RES occur with upper cervical spine disorders or temporo-mandibular joint dysfunction. RES is regarded refractory to medical treatments, although some migraine preventative treatments have shown moderate benefit mainly in patients with migraine-related attacks. The pathophysiology of RES is still unclear but several hypotheses involving peripheral or central nervous system mechanisms have been proposed. PMID:24093332

2013-01-01

459

Bilateral parotid enlargement due to malnutrition under the influence of the media in an adolescent in Lithuania.  

PubMed

The elimination of censorship for the media in post-communist countries in transition has contributed to increases in the prevalence of several medical problems. Children and adolescents are particularly vulnerable to the messages conveyed through the media, which influence their perceptions and behaviour. We describe a case of bilateral parotid enlargement due to malnutrition under the influence of self-prescribed diet in an adolescent. A 15-year-old girl reported to our institution under suspicion of Sjögren's syndrome for medical advice. Two months ago she developed persistent bilateral parotid enlargement and a dry mouth. Her medical history revealed a weight loss due to "self-prescribed" reduce diet. Social questioning clarified high use of the media and influence on the body concept and self image. On extra oral examination, a diffuse parotid enlargement was seen bilaterally. The examination of the mouth showed a low moisture level of the intraoral mucosa. The unstimulated whole salivary flow rate was 2 ml in 15 min. Laboratory findings evidenced anemia (107 g/l). The serum albumin concentration indicated a reduced level (28 g/l). Search for antinuclear antibodies, anti-SSA antibodies, anti-SSB, -Sm, -RNP and anti-double-stranded DNA antibodies was negative. Evaluation for antibodies against hepatitis C, cytomegalovirus and Epstein-Barr virus infection and HIV rendered negative results. A histopathologic examination of labial salivary gland biopsy revealed a picture of sialoadenosis. From the above investigations, a diagnosis of sialoadenosis due to malnutrition was made. PMID:17198741

Mieliauskaite, Diana; Venalis, Algirdas; Graziene, Vida; Kirdaite, Gailute

2007-07-01

460

Bilateral Traumatic Globe Luxation with Optic Nerve Transection  

PubMed Central

Purpose The purpose of this study was to document clinical findings and management of a patient with bilateral globe luxation and optic nerve transection. Materials and Methods A 25-year-old female patient was admitted to the emergency department with bilateral traumatic globe luxation following a motor vehicle accident. Results Visual acuity testing showed no light perception. The right pupil was dilated and bilaterally did not react to light. The globes were bilaterally intact. A computed tomography scan revealed Le Fort type II fractures, bilateral optic nerve transection and disruption of all extraocular muscles. The globes of the patient were bilaterally reduced into the orbit. However, the patient developed phthisis bulbi in the right eye at month 3. Conclusion Globe luxation presents a dramatic clinical picture, and may lead to the development of severe complications due to the concomitance of complete optic nerve dissection and multiple traumas. Even if the luxated globe is repositioned into the orbit, there is still an increased risk of the development of phthisis due to ischemia. PMID:25606034

Tok, Levent; Tok, Ozlem Yalcin; Argun, Tugba Cakmak; Yilmaz, Omer; Gunes, Alime; Unlu, Elif Nisa; Sezer, Sezgin; Ibisoglu, Seda; Argun, Mehmet

2014-01-01

461

Miller Fisher Syndrome Mimicking Ocular Myasthenia Gravis  

PubMed Central

Purpose Miller Fisher syndrome (MFS) is a rare immune-mediated neuropathy that commonly presents with diplopia following the acute onset of complete bilateral external ophthalmoplegia. Ophthalmoplegia is often accompanied by other neurological deficits such as ataxia and areflexia that characterize MFS. Although MFS is a clinical diagnosis, serological confirmation is possible by identifying the anti-GQ1b antibody found in a majority of affected patients. We report a patient with MFS who presented with clinical signs suggestive of ocular myasthenia gravis, but in whom the correct diagnosis was made on the basis of serological testing for the anti-GQ1b antibody. Case Report An 81-year-old white man presented with an acute onset of diplopia following a mild gastrointestinal illness. Clinical examination revealed complete bilateral external ophthalmoplegia and left-sided ptosis. He developed more marked bilateral ptosis, left greater than right, with prolonged attempted upgaze. He was also noted to have a Cogan’s lid twitch. Same day evaluation by a neuro-ophthalmologist revealed mild left-sided facial and bilateral orbicularis oculi weakness. He had no limb ataxia, but exhibited a slightly wide-based gait with difficulty walking heel-to-toe. A provisional diagnosis of ocular myasthenia gravis was made and anticholinesterase inhibitor therapy was initiated. However, his symptoms did not improve and serological testing was positive for the anti-GQ1b IgG antibody, supporting a diagnosis of MFS. Conclusions Although the predominant ophthalmic feature of MFS is complete bilateral external ophthalmoplegia, it should be recognized that MFS has variable associations with lid and pupillary dysfunction. Such confounding neuro-ophthalmic features require a thorough history, neurological examination, neuroimaging, and serological testing for the anti-GQ1b antibody to arrive at a diagnosis of MFS. PMID:23190719

Anthony, Scott A.; Thurtell, Matthew J.; Leigh, R. John

2012-01-01

462

Hamartomatous polyposis syndromes  

Microsoft Academic Search

The hamartomatous polyposis syndromes are a heterogeneous group of disorders that share an autosomal-dominant pattern of inheritance and are characterized by hamartomatous polyps of the gastrointestinal tract. These syndromes include juvenile polyposis syndrome, Peutz–Jeghers syndrome and the PTEN hamartoma tumor syndrome. The frequency and location of the polyps vary considerably among syndromes, as does the affected patient's predisposition to the

Kevin M Zbuk; Charis Eng

2007-01-01

463

Klinefelter's syndrome with renal tubular acidosis: impact on height.  

PubMed

A 19-year-old Indian man presented with a history of proximal muscle weakness, knock knees and gynaecomastia. On examination he had features of rickets and bilateral small testes. Karyotyping revealed a chromosomal pattern of 47,XXX, confirming the diagnosis of Klinefelter's syndrome. He was also found to have hyperchloraemic metabolic acidosis with hypokalaemia, hypophosphataemia, phosphaturia and glycosuria, which favoured a diagnosis of proximal renal tubular acidosis. Patients with Klinefelter's syndrome typically have a tall stature due to androgen deficiency, resulting in unfused epiphyses and an additional X chromosome. However, this patient had a short stature due to associated proximal renal tubular acidosis. To the best of our knowledge, this is the second case of Klinefelter's syndrome with short stature due to associated renal tubular acidosis reported in the literature. This report highlights the need to consider other causes when patients with Klinefelter's syndrome present with a short stature. PMID:20358137

Jebasingh, F; Paul, T V; Spurgeon, R; Abraham, S; Jacob, J J

2010-02-01

464

[The role of diagnostic neuropathology in familial tumour syndromes].  

PubMed

Inherited cancer syndromes often involve the central and peripheral nervous system. For the surgical neuropathologist the possibility in individual patients of a familial tumour syndrome needs to be considered in the case of special tumours such as malignant peripheral nerve sheath tumour (MPNST), medulloblastoma with extensive nodularity (MBEN) or even atypical teratoid/rhabdoid tumour (AT/RT) of the brain. Furthermore, tumour location and patient age may point to a familial tumour syndrome as in the case of neurofibromatosis type 2 (NF2) with typical bilateral vestibular schwannoma in young age. This short review discusses some of the diagnostic aspects in this field relating to neurofibromatosis type 1 and 2 (NF1, NF2), as well as the two rare tumors MBEN in Gorlin-Goltz syndrome and AT/RT in particular. PMID:20848106

Feiden, S; Sartorius, E; Feiden, W

2010-10-01

465

Bilateral femoral neck fractures secondary to chronic carbamazepine use treated by bilateral dynamic hip screw: A case report  

PubMed Central

Introduction Bilateral femoral neck fractures without major trauma are rare and related to several conditions. Insufficiency fractures due to the use of anti-epileptic drug are one of the rare causes. This case study is about bilateral femoral neck insufficiency fractures resulting from chronic use of anti-epileptic drug. Presentation of case A 26-year-old woman was referred to our emergency department with a complaint of bilateral groin pain and a 12-year history of irregular carbamazepine use. The diagnosis was bilateral femoral neck insufficiency fractures due to irregular long-term carbamazepine use. One-stage bilateral dynamic hip screw osteosynthesis was performed. After 2 years of follow up, good result was obtained. Discussion There are several risk factors for insufficiency fracture, and antiepileptic drug related osteoporosis is one of the reason. These drugs have negative effect on bone methabolism and bone mineral density. Conclusion To our knowledge, this is the first case in the literature of bilateral femoral neck insufficiency fracture due to chronic carbamazepine use. Joint and bone pain with a history of long-term use of anti-epileptic drug should be investigated carefully, and insufficiency fractures should be kept in mind. PMID:25528039

Sariyilmaz, Kerim; Gulenc, Baris; Ozkunt, Okan; Dikici, Fatih; Yazicioglu, Onder

2014-01-01

466

Coats-like lesions in Usher syndrome type II  

Microsoft Academic Search

Background An unusual case of Usher syndrome type II associated with bilateral Coats-like exudative retinopathy is described. Methods A 14-year-old boy with congenital sensorineural deafness and normal vestibular functions presented with a recent history of night blindness. He was followed for 3 years with fundus photography, intravenous fluorescein angiography, electroretinography and audiometric testings. His parents refused any form of treatment. Results

Hayyam K?ratl?; Cem Öztürkmen

2004-01-01

467

Microscopic polyangiitis presenting with capsular warning syndrome and subsequent stroke  

Microsoft Academic Search

A 55-year-old man developed ischemic stroke after three episodes of transient dysarthria and left hemiplegia, a typical manifestation of capsular warning syndrome. Magnetic resonance imaging of the brain showed bilateral basal ganglionic infarction. The patient had no significant risk of stroke. However, the systemic manifestations, an elevated titer of perinuclear anti-neutrophilic cytoplasmic antibody and a skin biopsy revealing leukocytoclastic venulitis

C. W. Tang; P. N. Wang; K. P. Lin; D. F. Huang; S. J. Wang; W. T. Chen

2009-01-01

468

Molding of top skull in the treatment of apert syndrome.  

PubMed

Patients with Apert syndrome have bilateral coronal craniosynostosis, along with a distinguishing feature of their many deformity, called tower skull. Surgical correction of this deformity is the mainstay of treatment. We describe 3 patients molded top skull after front bone osteotomy orbital bar advancement. This successfully restricted growth of their top skull while allowing growth in other dimensions. Utilization of top-skull molding after cranial surgery shows promise of satisfaction in this setting. PMID:25699533

Shen, Weimin; Cui, Jie; Chen, Jianbin; Weiping, Shen

2015-03-01

469

Hughes-Stovin Syndrome and Massive Hemoptysis: A Management Challenge  

PubMed Central

Hughes-Stovin syndrome is a very rare clinical entity characterized by pulmonary artery aneurysms and deep vein thrombosis (DVT). Here we report the case of a 53-year-old man, admitted to Sultan Qaboos University Hospital, Muscat, Oman, with bilateral pulmonary artery aneurysms and lower-limb DVT who developed massive hemoptysis. He was managed successfully with high-dose steroids in combination with cyclophosphamide.

Al-Zeedy, Khalfan; Jayakrishnan, B.; Rizavi, Dawar; Alkaabi, Juma

2015-01-01

470

A case of Hughes–Stovin syndrome associated with hyperhomocysteinemia  

Microsoft Academic Search

We report a case of Hughes–Stovin syndrome (HSS) associated with hyperhomocysteinemia. A 24-year-old man who has no clinical\\u000a features suggestive of Behcet’s disease was admitted for hemoptysis and dyspnea. Radiological and laboratory evaluation revealed\\u000a multifocal pulmonary artery aneurysms involving bilateral segmental pulmonary artery, thrombi in right atrium and ventricle,\\u000a and hyperhomocysteinemia. Accordingly, HSS associated with hyperhomocysteinemia was diagnosed, and the

Hyun-Ok Kim; Ho Cheol Kim; Yong-Geun Jeong; Jae Hee Kim; Dae-Hong Jeon; Kyoung-Nyeo Jeon; Sang-Il Lee

2010-01-01

471

Identification of a duplication of Xq28 associated with bilateral periventricular nodular heterotopia.  

PubMed Central

Bilateral periventricular nodular heterotopia (BPNH) is a malformation of neuronal migration and is characterized by nodules of heterotopic gray matter lining the lateral ventricles of the brain. The majority of BPNH patients are female and have epilepsy as a sole clinical manifestation of their disease. Familial BPNH has been mapped to Xq28 by linkage analysis. A multiple congenital anomaly-mental retardation syndrome (BPNH/MR) was recently delineated in three unrelated boys with BPNH, cerebellar hypoplasia, severe mental retardation, epilepsy, and syndactyly. High-resolution chromosome analysis revealed a subtle abnormality of Xq28 in one of the boys with BPNH/MR syndrome. FISH with cosmids and YACs from Xq28 further characterized this abnormality as a 2.25-3.25-Mb inverted duplication. No abnormality of Xq28 was detected by G-banding or FISH in the other two boys. These data support the linkage assignment of BPNH to band Xq28 and narrow the critical region to the distal 2.25-3.25 Mb of Xq28. Images Figure 1 Figure 3 Figure 4 Figure 5 PMID:9311743

Fink, J M; Dobyns, W B; Guerrini, R; Hirsch, B A

1997-01-01

472

[Problem and assignment for distinguishing the Usher syndrome type].  

PubMed

Usher syndrome is an autosomal-recessive disorder that causes bilateral sensorineural hearing loss, retinitis pigmentosa (RP), and occasionally vestibular dysfunction. Usher syndrome types 1, 2, and 3 can be distinguished by differences in audiovestibular features. The objectives of this retrospective study were to evaluate 26 patients with Usher syndrome clinically. The 26 patients (male: 12 cases, female: 14 cases) with Usher syndrome, with a clinical diagnosis based on symptoms of bilateral sensorineural hearing loss and RP, had been registered from 13 hospitals as a multicenter study. We assessed the clinical history and performed audiovestibular and ophthalmologic examinations, and genetic testing. Eleven of the patients were classified as having Usher type 1 (38.5%), 6 with Usher type 2 (23.1%), and 9 with Usher type 3 (38.5%). However, many patients with atypical Usher type 1 (70%) and type 2 (83.3%) were found compared with Usher type 3 (10%). The conductive rate of vestibular examinations including the caloric test (50%) was low. There were many variations in the clinical symptoms in Usher syndrome patients, therefore the classification of Usher types 1, 2, and 3 has been complicated. We have proposed a flowchart for the diagnosis of Usher types 1, 2, and 3. PMID:23214047

Iwasaki, Satoshi; Yoshimura, Hidekane; Takeichi, Norito; Satou, Hiroaki; Ishikawa, Kotaro; Kaga, Kimitaka; Kumakawa, Kozou; Nagai, Kyoko; Furuya, Nobuhiko; Ikezono, Tetsuo; Nakanishi, Hiroshi; Naitou, Yasu; Fukushima, Kunihiro; Tono, Tetsuya; Kimitsuki, Takashi; Nishio, Shinya; Takumi, Yutaka; Usami, Shinichi

2012-10-01

473

The Dide-Botcazo syndrome: forgotten and misunderstood.  

PubMed

Bilateral infarcts of the posterior cerebral arteries are associated with a range of visual and memory deficits. In 1902, Dide and Botcazo presented a clinico-pathological case study linking visual field defects, topographical disorientation, retro-anterograde amnesia and alexia with bilateral medial occipito-temporal lesions. Based on the findings they suggested the occipital lobe and inferior longitudinal fasciculus played an important role in memory. The combination of deficits was subsequently referred to on occasion as Dide-Botcazo syndrome but the term was largely forgotten until revived in the 1980s. More recently, some authors have included visual anosognosia--Anton's syndrome--in the syndrome, a feature that was not in the original case report. Here we present a historical review of Dide-Botcazo syndrome, illustrated with a recent case with almost identical clinical features to that described by Dide and Botcazo. Although Dide and Botcazo's theory of occipital amnesia has been superseded by developments in our understanding of the neurobiology of memory, it seems fitting to remember in some way their description of a clinical association of visual and memory deficits. We suggest Dide-Botcazo syndrome be used to describe a variant of vascular dementia, where visual field deficits are associated with memory impairment and, depending on the location of the vascular lesions, visual perceptual dysfunction, topographic, imagery or dreaming deficits. PMID:23473855

Lazzarino De Lorenzo, Lucio G; Ffytche, Dominic H; Di Camillo, Eva; Buiatti, Tania

2014-07-01

474

Compartment syndromes  

NASA Technical Reports Server (NTRS)

The compartment syndrome is defined as a condition in which high pressure within a closed fascial space (muscle compartment) reduces capillary blood perfusion below the level necessary for tissue viability'. This condition occurs in acute and chronic (exertional) forms, and may be secondary to a variety of causes. The end-result of an extended period of elevated intramuscular pressure may be the development of irreversible tissue injury and Volkmann's contracture. The goal of treatment of the compartment syndrome is the reduction of intracompartmental pressure thus facilitating reperfusion of ischaemic tissue and this goal may be achieved by decompressive fasciotomy. Controversy exists regarding the critical pressure-time thresholds for surgical decompression and the optimal diagnostic methods of measuring intracompartmental pressures. This paper will update and review some current knowledge regarding the pathophysiology, aetiology, diagnosis, and treatment of the acute compartment syndrome.

Mubarak, S. J.; Pedowitz, R. A.; Hargens, A. R.

1989-01-01

475

Cardiorenal syndromes  

PubMed Central

Cardiorenal syndromes (CRS) have been subclassified as five defined entities which represent clinical circumstances in which both the heart and the kidney are involved in a bidirectional injury and dysfunction via a final common pathway of cell-to-cell death and accelerated apoptosis mediated by oxidative stress. Types 1 and 2 involve acute and chronic cardiovascular disease (CVD) scenarios leading to acute kidney injury or accelerated chronic kidney disease. Types 2 and 3 describe acute and chronic kidney disease leading primarily to heart failure, although it is possible that acute coronary syndromes, stroke, and arrhythmias could be CVD outcomes in these forms of CRS. Finally, CRS type 5 describes a simultaneous insult to both heart and kidneys, such as sepsis, where both organs are injured simultaneously. Both blood and urine biomarkers are reviewed in this paper and offer a considerable opportunity to enhance the understanding of the pathophysiology and known epidemiology of these recently defined syndromes. PMID:21286212

McCullough, Peter A; Ahmad, Aftab

2011-01-01

476

Crush syndrome.  

PubMed

The assessment, management, and treatment of the entrapped victim are critical skills needed to ensure a successful outcome. Individuals have been trapped in the "rubble" for even short periods of time only to succumb to predictable consequences of muscle compression injury. The clinician should be prepared to address issues of crush syndrome (including compartment syndrome) proactively and aggressively. The history of this disease is clear and well documented both in the military literature and in the earthquake rescue reviews. The key to management is managing and predicting clinical conditions before they present themselves. The potential exists in the urban environment (with the potential of building collapses) to have patients with crush syndrome that far exceed local medical capabilities should be part of modern disaster planning. This article reviews the various body systems and presents management and assessment strategies for the clinician. PMID:15640677

Gonzalez, Dario

2005-01-01

477

Report of two Turkish infants with Norman-Roberts syndrome.  

PubMed

Lissencephaly or agyria refers to a rare disorder that is characterized by the absence of cerebral convolutions and a poorly formed sylvian fissure, giving the appearance of a 3-4 months old fetal brain. At present more than 25 dysmorphology syndromes with lissencephaly or other disorders of neuronal migration have been described. In 1976, Norman et al. reported on two patients with lissencephaly type I and short, sloping forehead, an atypical phenotype for Miller-Dieker syndrome, a more common lissencephaly syndrome. In this article, we report two Turkish female infants whose abnormal findings were consistent with Norman-Roberts syndrome because of their very rare presentation. Both patients had typical cranio-facial abnormalities and abnormal magnetic resonance imaging findings, but no deletion in 17p13.3 for Miller-Dieker syndrome. In addition to the typical findings of Norman-Roberts syndrome, case 1 had atrial septal defect, corpus callosum agenesis, intracranial widespread calcification and case 2 had bilateral macular cherry-red spot, persistent foramen ovale, increased blood level of C6 hexanoylcarnitine, cavum septum pellucidum vergae anomaly and cerebellar atrophy. In conclusion, we would like to emphasize that Norman-Roberts syndrome should also be considered in infants with lissencephaly. A detailed physical examination, chromosomal and fluorescence in situ hybridization (FISH) analysis to exclude a deletion in 17p13.3 should be performed for the definite diagnosis of the syndrome. PMID:15083694

Caksen, H; Tuncer, O; Kirimi, E; Fryns, J P; Uner, A; Unal, O; Cinal, A; Odaba?, D

2004-01-01

478

Spontaneous simultaneous bilateral malignant glaucoma of a patient with no antecedent history of medical or surgical eye diseases  

PubMed Central

Purpose Malignant glaucoma, or aqueous misdirection syndrome, is a condition characterized by sudden intraocular pressure (IOP) elevation, and it is usually unilateral and induced by ocular surgical intervention or by medical therapy. Here, we report a case of simultaneous bilateral malignant glaucoma in a young patient with no history of any ocular diseases. Case report A case of a 24-year-old female with no apparent previous history of ocular medical or surgical conditions was referred to our hospital because of recent bilateral IOP elevation associated with a severe drop in vision and shallow anterior chamber with no posterior segment anomalies detected by ocular ultrasound in both eyes. Yttrium aluminum garnet (YAG) laser iridotomy dropped the IOP only temporarily and the patient received topical atropine treatment with combined trabeculectomy and anterior vitrectomy. Results In this case, the patient had a typical presentation of bilateral malignant glaucoma and her IOP dropped only temporarily following laser iridotomy to rise again shortly thereafter. Also, deepening of the anterior chamber and IOP decrease after topical atropine was very supportive of the diagnosis of malignant glaucoma. Successful management with trabeculectomy and limited vitrectomy also affirmed the diagnosis of malignant glaucoma. Conclusion This is a very rare case of bilateral malignant glaucoma in a young adult without any prior eye conditions; only one similar case has been reported in the literature. We propose our own theory regarding this simultaneous occurrence of the pathology based on previously published studies about the presence of communication between the two eyes along the cerebrospinal fluid pathways. PMID:24920881

Jarade, Elias F; Dirani, Ali; Jabbour, Elyse; Antoun, Joelle; Tomey, Karim F

2014-01-01

479

Single-Session Radiofrequency Ablation of Bilateral Lung Metastases  

SciTech Connect

Purpose: This retrospective study examined the feasibility and efficacy of bilateral lung radiofrequency ablation (RFA) performed in a single session. Methods: From 2002-2009, patients with bilateral lung metastases were treated by RFA, where possible in a single session under general anesthesia with CT guidance. The second lung was punctured only if no complications occurred after treatment of the first lung. Five lung metastases maximum per patient were treated by RFA and prospectively followed. The primary endpoint was the evaluation of acute and delayed complications. Secondary endpoints were calculation of hospitalization duration, local efficacy, median survival, and median time to tumor progression. Local efficacy was evaluated on CT or positron emission tomography (PET) CT. Results: Sixty-seven patients were treated for bilateral lung metastases with RFA (mean age, 62 years). Single-session treatment was not possible in 40 due to severe pneumothoraces (n = 24), bilateral pleural contact (n = 14), and operational exclusions (n = 2). Twenty-seven (41%) received single-session RFA of lesions in both lungs for 66 metastases overall. Fourteen unilateral and four bilateral pneumothoraces occurred (18 overall, 66.7%). Unilateral (n = 13) and bilateral (n = 2) chest tube drainage was required. Median hospitalization was 3 (range, 2-8) days. Median survival was 26 months (95% confidence interval (CI), 19-33). Four recurrences on RFA sites were observed (4 patients). Median time to tumor progression was 9.5 months (95% CI, 4.2-23.5). Conclusions: Although performing single-session bilateral lung RFA is not always possible due to pneumothoraces after RFA of first lung, when it is performed, this technique is safe and effective.

Palussiere, Jean, E-mail: palussiere@bergonie.org; Gomez, Fernando; Cannella, Matthieu; Ferron, Stephane; Descat, Edouard [Institut Bergonie, Department of Radiology, Regional Cancer Centre (France); Fonck, Marianne [Institut Bergonie, Department of Digestive Oncology (France); Brouste, Veronique [Institut Bergonie, Clinical and Epidemiological Research Unit (France); Avril, Antoine [Institut Bergonie, Department of Surgery (France)

2012-08-15

480

Severe chemosis caused by nephrotic syndrome in a goat: A case report  

Microsoft Academic Search

A 3-year old female goat with nephrotic syndrome was presented because of severe bilateral chemosis. The diagnosis was based on clinical findings, decreased packed cell volume, increased serum urea and creatinine, decreased serum protein and protein loss via the urinary tract. At post mortem examination, a chronic glomerulonephritis and interstitial nephritis were found. In addition to severe conjunctival oedema, ascites

P. Stummer; A. Fuchs-Baumgartinger; S. Franz; B. Nell

2008-01-01

481

Dynamic ultrafast high resolution CT findings in a case of Swyer-James syndrome  

Microsoft Academic Search

In a patient with Swyer-James syndrome, the dynamic, ultrafast HRCT (DUHRCT) findings show multifocal bilateral air-trapping that was not seen on chest radiography or conventional CT scan. This technique accentuates theaair trapping associated with post-infectious obliterative bronchiolitis, which is underappreciated by plain chest radiography and conventional CT.

E. J. Stern; T. L. Samples

1992-01-01

482

Progressive diffuse leukoencephalopathy in patients with acquired immune deficiency syndrome (AIDS)  

Microsoft Academic Search

Two adult patients with acquired immune deficiency syndrome (AIDS) presented with psychoorganic symptoms produced by an extensive cerebral and cerebellar leukoencephalopathy. Diffuse loss of myelin and axons with reactive astrocytosis and distinctive multinucleated giant cells were prominent in the deep white matter, but less so in the subcortical white matter and in compact myelinated pathways. Bilateral involvement of the centrum

P. Kleihues; W. Lang; P. C. Burger; H. Budka; M. Vogt; R. Maurer; R. Liithy; W. Siegenthaler

1985-01-01

483

Addison's disease, hypertension, renal and hepatic microthrombosis in 'primary' antiphospholipid syndrome  

Microsoft Academic Search

We describe a 14 year old boy with antiphospholipid syndrome who initially presented at the age of 10 with recurrent loin pain, fever, weight loss, leucocytosis, thrombocytopenia, hypertension and haematuria. He had primary adrenal insufficiency with bilaterally enlarged adrenals on computed tomographic (CT) scan consistent with adrenal infarction. Renal and liver biopsies showed microthrombi in the glomerular capillaries and hepatic

S. Inam; K. Sidki; A. R. al-Marshedy; R. Judzewitsch

1991-01-01

484

Meigs' syndrome with elevated CA125: case report and review of the literature  

Microsoft Academic Search

A 51-year-old woman presented with acute ascites and hydrothorax is reported. Pelvic ultrasound showed two pelvic solid masses and serum CA125 level was elevated (577 IU\\/ml). Pathology revealed bilateral ovarian fibromas. We present this case of Meigs' syndrome and discuss its diagnostic problems and a review of the literature.

Antonio Abad; Eduardo Cazorla; Fernando Ruiz; Ismael Aznar; Enrique Asins; Joaquin Llixiona

1999-01-01

485

Three cases of spontaneous direct carotid cavernous fistulas associated with Ehlers-Danlos syndrome type IV  

Microsoft Academic Search

We are reporting three cases of spontaneous direct carotid cavernous fistulas (CCFs) associated with Ehlers-Danlos syndrome (EDS) out of a series of 147 direct CCFs. The internal carotid artery could be preserved in only one case. Two patients had severe bilateral irregularities of caliber of both internal carotid arteries. Two patients had recurrence of their symptoms after a first balloon

Gerard M. Debrun; Victor A. Aletich; Neil R. Miller; Robert J. W. DeKeiser

1996-01-01

486

[Nd-YAG laser iridotomy in pigment dispersion syndrome and pigment dispersion glaucoma].  

PubMed

Pigment dispersion syndrome is characterized by iris transillumination defects, Krukenberg spindels, and dense trabecular pigmentation. Additional features are bilaterality, myopia, concavity of the peripheral iris, a higher incidence in men than in woman,and young age of onset. A mechanism of reverse pupillary block causes iridozonular friction. Laser iridotomy is recommended as treatment to prevent further pigment dispersion and pigmentary glaucoma. PMID:12748808

Schwenn, O; Shah, B; Vogel, A; Yun, S H

2003-05-01

487

[Prevalence, etiology and clinical findings of Cushing's syndrome].  

PubMed

Endogenous Cushing's syndrome is a very rare entity, with an incidence of 2-4 cases per million inhabitants per year. Cases caused by ectopic ACTH secretion are under-diagnosed. Cushing's disease is the most frequent cause of endogenous Cushing's syndrome, which is 5 or 6 times more frequent than adrenal Cushing's syndrome, with an incidence of between 1.2 and 2.4 cases per million inhabitants per year. Cushing's disease is 3-8 times higher in women than in men. The frequency of adrenal tumors is 3 times higher in women, while that of Cushing's syndrome due to adrenal tumors is 3-5 times higher. Age at diagnosis of Cushing's syndrome varies according to the etiology. Most cases of Cushing's disease are due to a pituitary adenoma, although the tumor may not be visible on the available imaging techniques. ACTH-independent Cushing's syndrome is found in 20% of cases and is most frequently due to adenomas (10%) or adrenal carcinomas (8). Bilateral micronodular hyperplasia and macronodular hyperplasia are infrequent entities, representing less than 10% of all cases of ACTH-independent Cushing's syndrome. Both familial and sporadic forms exist: the familial form, or Carney complex, and ACTH-independent bilateral macronodular hyperplasia, in which the size of the adrenal glands is considerably enlarged. The signs and symptoms of Cushing's syndrome are a direct result of long-term exposure to excessive glucocorticoids. Most signs and symptoms are highly prevalent in the general population (hypertension, central obesity, diabetes mellitus or carbohydrate intolerance, osteoporosis, and characteristic phenotypical alterations). PMID:19627706

Lahera Vargas, Marcos; da Costa, César Varela

2009-01-01

488

Flammer syndrome  

PubMed Central

The new term Flammer syndrome describes a phenotype characterized by the presence of primary vascular dysregulation together with a cluster of symptoms and signs that may occur in healthy people as well as people with disease. Typically, the blood vessels of the subjects with Flammer syndrome react differently to a number of stimuli, such as cold and physical or emotional stress. Nearly all organs, particularly the eye, can be involved. Although the syndrome has some advantages, such as protection against the development of atherosclerosis, Flammer syndrome also contributes to certain diseases, such as normal tension glaucoma. The syndrome occurs more often in women than in men, in slender people than in obese subjects, in people with indoor rather than outdoor jobs, and in academics than in blue collar workers. Affected subjects tend to have cold extremities, low blood pressure, prolonged sleep onset time, shifted circadian rhythm, reduced feeling of thirst, altered drug sensitivity, and increased general sensitivity, including pain sensitivity. The plasma level of endothelin-1 is slightly increased, and the gene expression in lymphocytes is changed. In the eye, the retinal vessels are stiffer and their spatial variability larger; the autoregulation of ocular blood flow is decreased. Glaucoma patients with Flammer syndrome have an increased frequency of the following: optic disc hemorrhages, activated retinal astrocytes, elevated retinal venous pressure, optic nerve compartmentalization, fluctuating diffuse visual field defects, and elevated oxidative stress. Further research should lead to a more concise definition, a precise diagnosis, and tools for recognizing people at risk. This may ultimately lead to more efficient and more personalized treatment. PMID:25075228

2014-01-01

489

Microdeletion syndromes.  

PubMed

The recent explosion in the implementation of genome-wide microarray technology to discover rare, pathogenic genomic rearrangements in a variety of diseases has led to the discovery of numerous microdeletion syndromes. It is now clear that these microdeletions are associated with extensive phenotypic heterogeneity and incomplete penetrance. A subset of recurrent microdeletions underpin diverse phenotypes, including intellectual disability, autism, epilepsy and neuropsychiatric disorders. Recent studies highlight a role for additional low frequency variants, or 'second hits' to account for this variability. The implementation of massively parallel sequencing and epigenetic models may provide a powerful prospective approach to the delineation of microdeletion syndrome phenotypes. PMID:23664828

Carvill, Gemma L; Mefford, Heather C

2013-06-01

490

A case of cochlear implantation in a patient with Epstein syndrome.  

PubMed

Epstein syndrome is a rare autosomal dominant platelet disorder characterized by thrombocytopenia, giant platelets, and sensorineural hearing loss. It is included among four overlapping syndromes, the others being May-Hegglin anomaly, Fechtner syndrome, and Sebastian syndrome. It is now established that all four disorders are caused by mutations in the MYH9 gene. We report the case of a patient with Epstein syndrome in whom bilateral profound hearing impairment developed and cochlear implantation was carried out. A cochlear implant was successfully used with a speech discrimination score of 100% on a Japanese sentence recognition test. This report offers the second description of the performance of a cochlear implant in a patient with Epstein syndrome. This case study may offer hope for patients and their family members with this kind of mutation. PMID:25293679

Nabekura, Takashi; Nagano, Yuki; Matsuda, Keiji; Tono, Tetsuya

2015-04-01

491

[West syndrome associated with epileptic negative myoclonus].  

PubMed

We report a 10-month-old girl who had brief epileptic negative myoclonus during the course of West syndrome. She began to have epileptic spasms in series at the age of 8 months. Video-electroencephalograph (EEG) monitoring revealed that she also had brief epileptic negative myoclonus when she was 10 months old. Brief atonia of limbs occurred in isolation or in a cluster during drowsiness or sleep. The ictal EEG exhibited diffuse polyspikes and waves or diffuse high-voltage slow waves that were overlapped by low-voltage fast waves. 3 to 4 hundred milliseconds of silent periods were observed in the bilateral deltoid electromyograms, which correspond to the EEG patterns. The occurrence of other types of seizures, partial seizures in particular, accompanied by epileptic spasms has been fully investigated. This is the first case report of a patient with West syndrome whose coexisting epileptic negative myoclonus was confirmed by a silent electromyogram pattern. PMID:25403066

Shibata, Takashi; Yoshinaga, Harumi; Oka, Makio; Kobayashi, Katsuhiro

2014-09-01

492