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Sample records for bilateral perisylvian syndrome

  1. Congenital bilateral perisylvian syndrome with partial epilepsy. Case report with long-term follow-up.

    PubMed

    Margari, Lucia; Lucia, Margari; Presicci, Anna; Anna, Presicci; Ventura, Patrizia; Patrizia, Ventura; Buttiglione, Maura; Maura, Buttiglione; Andreula, Cosma; Cosma, Andreula; Perniola, Tommaso; Tommaso, Perniola

    2005-01-01

    Congenital bilateral perisylvian syndrome (CBPS) is a rare neurological disorder characterised by pseudobulbar palsy, cognitive deficits and epilepsy associated with bilateral perisylvian cortical dysplasia on neuroimaging studies. We report a long-term follow-up of a 18-years girl diagnosed with CBPS according to the typical clinical and magnetic resonance imaging (MRI) features. The patient showed faciopharyngoglossomasticatory diplegia, severe dysarthria, ataxia, spastic quadriparesis and severe mental retardation. Brain MRI evidenced bilateral perisylvian cortical dysplasia. Since early life she suffered from complex febrile seizures and epilepsy consisting of complex partial attacks with affective manifestations associated with centro-temporal EEG abnormalities. During 18 years of follow-up she was treated with phenobarbital, carbamazepine, lamotrigine, gabapentin but did not show any significant clinical improvement. Subsequently, monotherapy with phenytoin (PHT) was followed by a significant clinical improvement. At age 17, because of adverse effects, PHT was gradually substituted by topiramate (TPM). Full control of seizures was obtained at the age of 17 years with TPM. EEG abnormalities throughout the years have been reduced according to the clinical course. These findings emphasised the importance of long-term follow-up, suggesting that the prognosis for epilepsy may not be predicted based on the early response to treatment or on the presence of structural encephalic abnormalities, as reported in the literature. PMID:15626542

  2. Intractable epilepsy in Turner syndrome associated with bilateral perisylvian hypoplasia: one case report.

    PubMed

    Striano, Salvatore; Striano, Pasquale; Tortora, Fabio; Elefante, Andrea

    2005-12-01

    Turner syndrome (TS) is the most frequent sex abnormality in females, generally associated with a 45,X0 karyotype. Although neurological complications are frequently part of the clinical picture, serious brain abnormalities are quite rare in TS. Epilepsy in TS is not frequent and so far only few cases have been reported, usually associated with cortical dysplasias. We report a Turner patient showing severe neurological impairment, refractory epilepsy and MRI finding of bilateral perisylvian hypoplasia. The possible dysgenetic role of X-chromosome on cortical morphogenesis is also discussed. PMID:16311148

  3. A clinically recognizable neuronal migration disorder: congenital bilateral perisylvian syndrome. Case report with long-term clinical and EEG follow-up.

    PubMed

    Baykan-Kurt, B; Sarp, A; Gökyi?it, A; Tunçay, R; Cali?kan, A

    1997-12-01

    Congenital bilateral perisylvian syndrome (CBPS) is a recently described, neuronal migration disorder, characterized by pseudobulbar palsy, epilepsy and mental retardation and bilateral perisylvian dysplasia. A 15-year-old boy was diagnosed with CBPS according to the typical clinical, and magnetic resonance imaging (MRI) features. The patient was suffering from atypical absence seizures, repeating daily in spite of antiepileptic drug therapy, since age 7 years. He had also experienced rare generalized tonic-clonic seizures and complex partial seizures. Neurological examination showed severe restriction of tongue movements, severe dysarthria, dysphagia, facial diplegia, mild pyramidal signs and moderate mental retardation. A computed tomographic (CT) scan demonstrated bilateral perisylvian enlargement. The diagnosis was corrected with MRI after six years. Frequent irregular generalized spike and wave abnormalities and focal sharp and slow waves over the posterior regions of both hemispheres were shown by electroencephalograms (EEG). The patient was treated with Na-Valproate, carbamazepine and lamotrigine but did now show any significant change in seizure frequency in the eight-year follow-up period. Intractable seizures, mental retardation and particularly congenital pseudobulbar palsy suggest this congenital entity. Those patients who exhibit these typically clinical features, must have MRI. PMID:9530947

  4. Bilateral opercular syndrome caused by perinatal difficulties.

    PubMed

    Yamamoto, T; Koeda, T; Maegaki, Y; Tanaka, C; Takeshita, K

    1997-01-01

    Four patients with pseudobulbar palsy, mental retardation and various degrees of speech disturbance associated with perinatal difficulties are described as having an acquired type of opercular syndrome. There were two patients with fetal bradycardia and three with subarachnoid haemorrhage and neonatal convulsion. Magnetic resonance imaging revealed cortical atrophy in the bilateral opercula with some signal abnormalities in the underlying white matter in common. Single photon emission computed tomography (SPECT) also confirmed the presence of hypoperfusion in the regions. Although the opercular syndrome is a clinical entity with a multitude of underlying pathologies, perinatal difficulties could be an important cause of the acquired type. PMID:10728199

  5. Anton's Syndrome due to Bilateral Ischemic Occipital Lobe Strokes

    PubMed Central

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

    2014-01-01

    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

  6. Catastrophic Antiphospholipid Syndrome Presenting as Bilateral Central Retinal Artery Occlusions

    PubMed Central

    Saraf, Steven S.; Patel, Yogin P.; Desai, Ankit; Desai, Uday R.

    2015-01-01

    A previously healthy 22-year-old African American woman presented with bilateral vision loss associated with headache. Her ocular examination was significant for bilateral retinal arterial “boxcarring,” retinal whitening, retinal hemorrhages, and cherry red spots. She was diagnosed with bilateral central retinal artery occlusions and was hospitalized due to concomitant diagnosis of stroke and hypercoagulable state. She was also found to be in heart failure and kidney failure. Rheumatology was consulted and she was diagnosed with catastrophic antiphospholipid syndrome in association with systemic lupus erythematosus. Approximately 7 months after presentation, the patient's vision improved and remained stable at 20/200 and 20/80. PMID:25722904

  7. Bilateral Renal Dysplasia, Nephroblastomatosis, and Bronchial Stenosis. A New Syndrome?

    PubMed Central

    Rodriguez, Maria Matilde; Correa-Medina, Mayrin; Whittington, Elizabeth E.

    2015-01-01

    Bilateral nephroblastomatosis (NB) is an uncommon renal anomaly characterized by multiple confluent nephrogenic rests scattered through both kidneys, with only a limited number of cases reported in the medical literature. Some of these children may have associated either Perlman or Beckwith–Wiedemann syndrome and others do not demonstrate syndromic features. We report a full-term boy with anteverted nose, bilateral bronchial stenosis due to lack of cartilage, bilateral obstructive renal dysplasia and NB with glomeruloid features. The infant had visceromegaly, but neither gigantism nor hemihypertrophy. Immunohistochemistry for PAX2 (Paired box gene-2) and WT-1 (Wilms Tumor 1) were strongly positive in the areas of NB. GLEPP-1 (Glomerular Epithelial Protein) did not stain the areas of NB with a glomeruloid appearance, but was positive in the renal glomeruli as expected. We found neither associated bronchial stenosis nor the histology of NB resembling giant glomeruli in any of the reported cases of NB. PMID:25871299

  8. Bilateral renal dysplasia, nephroblastomatosis, and bronchial stenosis. A new syndrome?

    PubMed

    Rodriguez, Maria Matilde; Correa-Medina, Mayrin; Whittington, Elizabeth E

    2015-06-01

    Bilateral nephroblastomatosis (NB) is an uncommon renal anomaly characterized by multiple confluent nephrogenic rests scattered through both kidneys, with only a limited number of cases reported in the medical literature. Some of these children may have associated either Perlman or Beckwith-Wiedemann syndrome and others do not demonstrate syndromic features. We report a full-term boy with anteverted nose, bilateral bronchial stenosis due to lack of cartilage, bilateral obstructive renal dysplasia and NB with glomeruloid features. The infant had visceromegaly, but neither gigantism nor hemihypertrophy. Immunohistochemistry for PAX2 (Paired box gene-2) and WT-1 (Wilms Tumor 1) were strongly positive in the areas of NB. GLEPP-1 (Glomerular Epithelial Protein) did not stain the areas of NB with a glomeruloid appearance, but was positive in the renal glomeruli as expected. We found neither associated bronchial stenosis nor the histology of NB resembling giant glomeruli in any of the reported cases of NB. PMID:25871299

  9. Simultaneous Bilateral Spontaneous Pneumothorax Revealed Birt-Hogg-Dubè Syndrome

    PubMed Central

    Tamburrini, Alessandro; Sellitri, Francesco; Tacconi, Federico; Brancati, Francesco; Mineo, Tommaso Claudio

    2015-01-01

    Simultaneous bilateral spontaneous pneumothorax is a very rare clinical event, comprising approximately 1% of all spontaneous pneumothoraces. Clinical signs and symptoms may vary from mild chest pain and dyspnea to severe respiratory failure; nevertheless immediate treatment is mandatory as this condition can deteriorate and progress to tension pneumothorax. An underlying lung disease has been commonly described; in most istances primary or secondary tumors, interstitial diseases, and infectious diseases. Birt-Hogg-Dubè syndrome is a rare inherited disorder clinically characterized by multiple fibrofolliculomas, renal tumors, lung cysts, and, in ~24% of the patients, occurrence of spontaneous pneumothorax. In this case, we firstly report the concurrence of these rare conditions, as a patient presenting a simultaneous bilateral spontaneous pneumothorax was diagnosed with Birt-Hogg-Dubè syndrome based on the typical radiological findings and genetic testing of the folliculin gene located on chromosome 17. PMID:26346436

  10. Bilateral Wünderlich Syndrome Caused by Spontaneous Rupture of Renal Angiomyolipomas

    PubMed Central

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

    2015-01-01

    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. PMID:25793141

  11. Bilateral adrenalectomy for Cushing's syndrome: Pros and cons

    PubMed Central

    Prajapati, O. P.; Verma, A. K.; Mishra, A.; Agarwal, G.; Agarwal, A.; Mishra, S. K.

    2015-01-01

    Aim: To assess the outcome of patients undergoing bilateral adrenalectomy for Cushing's syndrome (CS). Methods: All patients who underwent bilateral adrenalectomy for CS at the Department of Endocrine Surgery, Sanjay Gandhi Postgraduate Institute of Medical Sciences hospital between 1991 and 2013 were included. Medical records were reviewed to obtain patient characteristics and follow-up data. Results: Twenty-seven patients were studied. Mean age was 28.74 ± 12.95 years (range 9–60), male:female ratio was 1.7:1. About half that is, 48.19% were of Cushing's disease (failed trans-sphenoidal surgery [TSS]), 37.04% were of ectopic CS (ECS), and 14.81% were of CS due to bilateral adrenal pathology. Median follow-up period was 80.5 months. Before surgery, 74.1% patients had body mass index > which after surgery declined to <25 in 75% of them. Hypertension was present in 85.2% and after surgery resolved in 40%. Diabetes mellitus was present in 44.4% and after surgery resolved in 33% of them. Hirsutism and proximal muscle weakness were present in 55.6% and 70.4% patients, respectively, and after surgery improved markedly in all patients. Adrenal crisis developed in 36.3% and Nelson's syndrome in 41.7% patients during follow-up. Three patients died in perioperative period while three succumbed to the disease during follow-up. Two patients developed recurrence of endogenous cortisol production during the follow-up period. Conclusions: Bilateral adrenalectomy is a valid treatment option for palliating severe symptoms in Pituitary Cushing's with failed TSS and unlocalized ECS but the procedure is curative for CS due to bilateral adrenal disease. Overall morbidity and mortality is higher than other endocrine operations. Co-morbidities tend to be more severe and are a risk factor for mortality during the time patient survives. PMID:26693437

  12. Bilateral pial synangiosis in a child with PHACE syndrome.

    PubMed

    Jack, Andrew S; Chow, Michael M; Fiorillo, Loretta; Chibuk, Thea; Yager, Jerome Y; Mehta, Vivek

    2016-01-01

    The acronym PHACE has been used to denote a constellation of abnormalities: posterior fossa anomalies, facial hemangiomas, arterial anomalies, cardiac anomalies, and eye abnormalities. Approximately 30% of patients with large facial hemangiomas have PHACE syndrome, with the vast majority having intracranial arteriopathy. Few reports characterize neurological deterioration from this intracranial arteriopathy, and even fewer report successful treatment thereof. The authors report on a case of a child with PHACE syndrome who presented with an ischemic stroke from a progressive intracranial arteriopathy and describe her successful treatment with bilateral pial synangiosis. An 8-month old girl diagnosed with PHACE syndrome was found to have bilateral internal carotid artery stenosis. Although initially asymptomatic, a few months after diagnosis she suffered a right frontal and parietal stroke. MRI and cerebral angiography investigations demonstrated progressive intracranial arterial stenosis and occlusion. The patient then underwent indirect cerebral revascularization surgery. At 2-year follow-up, she exhibited clinical improvement with persistent speech and motor developmental delay. Follow-up MRI and cerebral angiography showed no new ischemic events and robust extensive vascular collateralization from surgery. PHACE syndrome is an uncommon disease, and affected patients often have cerebral arteriopathy. Although the underlying natural history of cerebral arteriopathy in PHACE remains unclear, cerebral revascularization may represent a potential therapy for symptomatic patients. PMID:26405843

  13. Craniofacial Microsomia: Goldenhar Syndrome in Association with Bilateral Congenital Cataract

    PubMed Central

    Shrestha, U. D.; Adhikari, S.

    2015-01-01

    Craniofacial microsomia (CFM) includes a spectrum of malformations primarily involving structures derived from the first and second branchial arches. Patients with hemifacial microsomia and epibulbar dermoids are said to have Goldenhar syndrome (GHS). Four-month-old boy with whitish pupillary reflex presented with the features of GHS in pediatric ophthalmology clinic. The child had ocular and auricular manifestations. There were no vertebral anomalies, but he had bilateral congenital cataract. The peculiarity of this case is the presence of the bilateral total congenital cataract, in association with CFM. There is absence of epibulbar dermoid or lipodermoid in the eyes, although the child had features of GHS. In addition to it, anesthetic intubation was smooth in this case. Any case diagnosed with CFM and/or GHS needs treatment through multidisciplinary approach, consultation in ophthalmology department is one of them. PMID:26635984

  14. Spontaneous bilateral compartment syndrome in a HIV-positive patient

    PubMed Central

    Davidson, Donald James; Shaukat, Yasir Mehmood; Jenabzadeh, Reza; Gupte, Chinmay M

    2013-01-01

    Spontaneous bilateral compartment syndrome is a very rare condition but one which requires swift diagnosis and urgent surgical decompression by fasciotomies in order to achieve the best outcome. We present the case of a 31-year-old HIV-positive man. The case highlights the perils of being sidetracked by an atypical clinical history instead of acting on the classical clinical examination findings. We will discuss the presentation and management of this patient, review the literature and highlight the key learning points. The most important learning point being that no matter how atypical the history, if a patient presents with limb pain out of proportion to the injury (with or without pain on passive stretch), sensory changes and a loss of motor power, then a diagnosis of acute compartment syndrome must be considered. PMID:24347455

  15. Bilateral iridocorneal endothelial syndrome in a young girl with Down's syndrome

    PubMed Central

    Gupta, Viney; Kumar, Randhir; Gupta, Ritesh; Srinivasan, Geetha; Sihota, Ramanjit

    2009-01-01

    We describe the occurrence of bilateral iridocorneal endothelial (ICE) syndrome with glaucoma in a young girl with Down's syndrome. A 16-year-old girl with Down's syndrome was found to have secondary glaucoma in the right eye with features of progressive iris atrophy in both eyes. She was uncontrolled on maximum tolerable medical therapy for glaucoma. She underwent an uneventful trabeculectomy with mitomycin-C in her right eye. Scanning electron microscopy of the trabecular meshwork obtained in this case is described. PMID:19075416

  16. Adrenal Venous Sampling Is Useful for a Definitive Diagnosis in Cushing's Syndrome with Bilateral Adrenal Tumors.

    PubMed

    Seki, Toshiro; Yasuda, Atsushi; Kitajima, Natsumi; Oki, Masayuki; Takagi, Atsushi; Nakamura, Naoya; Hanai, Kazuya; Terachi, Toshiro; Fukagawa, Masafumi

    2015-01-01

    We report three cases of Cushing's syndrome (CS) with bilateral adrenal tumors. When bilateral adrenal tumors are encountered, a differential diagnosis is difficult to make, especially in the case of functioning bilateral adrenocortical adenoma. Adrenal scintigraphy has become a standard technique to determine the laterality of excessive hormone secretion; however, this examination results in bilateral adrenal activity in the functioning bilateral adrenocortical adenoma. Our three patients were diagnosed with adrenocorticotropic hormone (ACTH)-independent CS based on biochemical testing, and an abdominal computed tomography (CT) scan detected bilateral adrenal tumors. Adrenal scintigraphy showed bilateral adrenal activity in all cases. However, adrenal venous sampling (AVS) demonstrated three different hormone-excess patterns (case 1: bilateral cortisol-excess secretions; case 2: unilateral cortisol-excess secretion and bilateral aldosterone-excess secretions; and case 3: bilateral cortisol-excess secretions and bilateral aldosterone-excess secretions). Based on these findings, we could select optimal treatment for each case. Therefore, AVS is useful to obtain a definitive diagnosis and adequate therapy for CS with bilateral adrenal tumors. PMID:26662665

  17. Bilateral Laparoscopic Gonadectomy in a Patient With Complete Androgen Insensitivity Syndrome and Bilateral Sertoli-Leydig Cell Tumor: A Case Report and Brief Review of the Literature

    PubMed Central

    Asl Zare, Mohammad; Kalantari, Mahmood Reza; Asadpour, Amir Abbas; Kamalati, Ali

    2014-01-01

    Introduction: Complete androgen insensitivity syndrome (previously called testicular feminization) is specified by a 46 XY karyotype and negative sex chromatin, bilateral undescended testes, female genitalia appearance, and lack of mullerian derivatives. Case Presentation: A 28-year-old woman with complete (severe) androgen resistance underwent prophylactic laparoscopic bilateral gonadectomy because of the eventually increased risk of gonadal malignancy. Although the gonads appeared grossly normal, microscopic examination revealed bilateral well differentiated sertoli–leydig cell tumor (SLCT). Discussion: Our Medline search revealed that this is the first reported case of bilateral sertoli–leydig cell tumor (SLCT) in androgen insensitivity syndrome. PMID:25032133

  18. Occurrence of bilaterally independent epileptic spasms after a corpus callosotomy in West syndrome.

    PubMed

    Kobayashi, Katsuhiro; Endoh, Fumika; Toda, Yoshihiro; Oka, Makio; Baba, Hiroshi; Ohtsuka, Yoko; Yoshinaga, Harumi

    2016-01-01

    We report a patient with intractable West syndrome whose epileptic spasms (ESs) were initially bilaterally synchronous, as is typical; after a complete corpus callosotomy, however, bilaterally independent ESs originated in either hemisphere. Activity of probable cortical origin associated with ESs was detected by observing ictal gamma oscillations. Brain MRI revealed no structural abnormality before surgery. This case suggests that ESs with a hemispheric origin may appear generalized because of synchronizing effects in the corpus callosum in some patients. PMID:25998967

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

    PubMed

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

    2014-12-01

    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

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

    PubMed

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

    2015-01-01

    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

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

    PubMed Central

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

    2015-01-01

    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

  2. Gómez-López-Hernández Syndrome: A Rare Cause of Bilateral Nonscarring Alopecia.

    PubMed

    Saricam, Merve Hatun; Tekin, Burak; Unver, Olcay; Ekinci, Gazanfer; Ergun, Tulin

    2015-11-01

    Gómez-López-Hernández syndrome is a rare neurocutaneous disorder characterized by the triad of rhombencephalosynapsis, parietal alopecia, and trigeminal anesthesia. We report a 16-year-old girl with bilateral parietotemporal alopecia in whom cranial magnetic resonance imaging revealed rhombencephalosynapsis, suggesting a diagnosis of Gómez-López-Hernández syndrome. Neurologic examination and neuroimaging may be warranted in select patients with parietal alopecia to exclude this uncommon entity. PMID:26391554

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

    ERIC Educational Resources Information Center

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

    2004-01-01

    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…

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

    SciTech Connect

    Hagspiel, Klaus D.; Bonatti, Hugo; Sabri, Saher; Arslan, Bulent; Harthun, Nancy L.

    2011-04-15

    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.

  5. Bilateral squamosal suture synostosis: A rare form of isolated craniosynostosis in Crouzon syndrome

    PubMed Central

    Tandon, Yasmeen K; Rubin, Michael; Kahlifa, Mohamed; Doumit, Gaby; Naffaa, Lena

    2014-01-01

    Craniosynostosis is a pathologic condition which is characterized by the premature fusion of cranial sutures. It may occur alone or in association with other anomalies making up various syndromes. Crouzon syndrome is the most common craniosynostosis syndrome. Bicoronal sutures fusion is most commonly involved in Crouzon syndrome. There have only been a handful of cases of squamosal suture synostosis described in the surgery literature with the few ones described in Crouzon syndrome associated with other types of craniosynostosis. To the best of our knowledge, we are presenting the first case of isolated bilateral squamosal suture synostosis in a patient with Crouzon syndrome in a radiology journal with emphasis on its radiological appearance. PMID:25071892

  6. Bilateral Multifocal Renal Angiomyolipoma Associated with Wunderlich’s Syndrome in A Tuberous Sclerosis Patient

    PubMed Central

    Hulikanthimatt, Kiran Shankar; Awatti, Shreeharsha Mallappa; Narayanrao, Suresh Turuvekere

    2015-01-01

    Renal Angiomyolipoma (renal AML) is a benign clonal neoplasm with a incidence of 0.3-3%, occurring as isolated sporadic entity or in association with Tuberous sclerosis (TS) in 80% cases. Multiple, bilateral renal AML are considered diagnostic of Tuberous sclerosis. Wunderlich’s syndrome, a urological emergency is a spontaneous nontraumatic bleeding into subcapsular and or peri-renal space and is a life threatening complication of renal AML occurring in 10% cases which has to be timely diagnosed and treated. Here, we present an unusual case of TS with bilateral, multifocal renal AML in a 25-year-old female who presented with Wunderlich’s syndrome, which is a rare but life threatening complication that has to be suspected, timely diagnosed and treated. We have discussed the importance of early diagnosis, timely treatment, follow up and education of patient and relatives of the possible complications associated. PMID:26435953

  7. Acute bilateral useless hand syndrome: a rare presenting manifestation of vitamin B12 deficiency.

    PubMed

    Biyani, Sumant; Jha, Sneh Kumar; Pandey, Suchit; Shukla, Rakesh

    2015-01-01

    We report a case of bilateral useless hand syndrome, a rare presenting manifestation of vitamin B12 deficiency. A 38-year-old man, a strict vegetarian and a teacher by occupation, presented with acute onset clumsiness of both hands while performing fine movements. Detailed history-taking, examination of the patient and relevant investigations (complete blood count, serum vitamin B12 and MRI of the cervical spinal cord) were carried out. Laboratory analysis was suggestive of vitamin B12 deficiency and MRI demonstrated a lesion involving the posterior columns of the cervical cord. The patient was diagnosed as a case of non-compressive cervical myelopathy predominantly involving the posterior column due to vitamin B12 deficiency. Acute bilateral useless hand syndrome can be a rare presenting feature of vitamin B12 deficiency. PMID:26475874

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

    PubMed

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

    2015-01-01

    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

  9. Anterior opercular syndrome induced by Epstein-Barr virus encephalitis.

    PubMed

    Matsushima, Takashi; Nishioka, Kenya; Tanaka, Ryota; Yokoyama, Kazumasa; Hattori, Nobutaka

    2016-02-01

    We report a 19-year-old female presenting with fever, drooling, anarthria, and voluntary facial movement disruption, characteristic of anterior opercular syndrome (AOS). Serological examination revealed Epstein-Barr virus (EBV) infection following acute encephalitis with severe ataxia. A single-photon emission computerized tomography (SPECT) examination indicated hypoperfusion in the left perisylvian region, bilateral thalamus, occipital lobe, and cerebellum. This is the first report of AOS related to EBV encephalitis. SPECT was a useful method for detecting the damaged region of the operculum. In addition, AOS is a clinically distinct entity that may help us understand the mechanisms of language circuits within the operculum. PMID:26027635

  10. Genetics of primary bilateral macronodular adrenal hyperplasia: a model for early diagnosis of Cushing's syndrome?

    PubMed

    Drougat, Ludivine; Espiard, Stéphanie; Bertherat, Jerôme

    2015-10-01

    Long-term consequences of cortisol excess are frequent despite appropriate treatment after cure of Cushing's syndrome. This might be due to diagnostic delay, often difficult to reduce in rare diseases. The identification of a genetic predisposing factor might help to improve early diagnosis by familial screening. Primary bilateral macronodular adrenal hyperplasia (PBMAH) is a rare cause of Cushing's syndrome. Hypercortisolism in PBMAH is most often diagnosed between the fifth and sixth decades of life. The bilateral nature of the adrenocortical tumors and the occurrence of rare clear familial forms suggest a genetic origin. Indeed, a limited subset of PBMAH can be observed as part of multiple tumors syndromes due to alterations of the APC, Menin or Fumarate Hydratase genes. Rare variants of the phosphodiesterases PDE11A have been associated with PBMAH. The recent identification of ARMC5 germline alterations in 25-50% of PBMAH patients without obvious familial history or associated tumors opens new perspectives. ARMC5 alterations follow the model of a tumor suppressor gene: a first germline inactivating mutation of this 16p located gene is followed by a somatic secondary hit on the other allele (inactivating mutation or allelic loss). Functional studies demonstrate that ARMC5 controls apoptosis and steroid synthesis. The phenotype of index cases patients with the mutation seems more severe than the one of WT index cases. However, phenotype variability within a family is often observed. This review summarizes the genetics of PBMAH, focusing on ARMC5, which offer new perspectives for early diagnosis of Cushing's syndrome. PMID:26264719

  11. Capgras Syndrome in a Patient with Parkinson's Disease after Bilateral Subthalamic Nucleus Deep Brain Stimulation: A Case Report

    PubMed Central

    Kyrtsos, Christina Rose; Stahl, Mark C.; Eslinger, Paul; Subramanian, Thyagarajan; Lucassen, Elisabeth B.

    2015-01-01

    Capgras syndrome is a delusional misidentification syndrome (DMS) which can be seen in neurodegenerative diseases such as Lewy body dementia and, to a lesser extent, in Parkinson's disease (PD). Here, we report the case of a 78-year-old man with a history of idiopathic PD who developed Capgras syndrome following bilateral subthalamic nucleus deep brain stimulation (DBS) implantation. As the risk of DMS has been related to deficits in executive, memory, and visuospatial function preoperatively, this case highlights the importance of continuing to improve patient selection for DBS surgery. Capgras syndrome is a rare potential complication of DBS surgery in PD patients with preexisting cognitive decline. PMID:26078747

  12. Bilateral upper-extremity deep vein thrombosis following central cord syndrome

    PubMed Central

    Onmez, Hilal; Cingoz, Havva Turac; Kucuksen, Sami; Anliac?k, Emel; Ya?ar, Ozan; Yilmaz, Halim; Salli, Ali

    2013-01-01

    Deep vein thrombosis (DVT) is a common complication following spinal cord injury (SCI). Although DVT of the upper extremity is much less common than DVT of the lower extremities, the risk of pulmonary embolism following upper-extremity DVT should not be disregarded. Method Case report. Findings A bilateral upper-extremity DVT developed in a 51-year-old woman with SCI (central cord syndrome) being followed in our rehabilitation clinic. Medical treatment resulted in improvement in the clinical status of the patient as well as the regression in the thrombus. Conclusion In patients with SCI, DVT should be kept in mind in the presence of pain and edema in the upper extremities, and prophylactic DVT treatment should be considered. PMID:23809596

  13. Laparoscopic hysterectomy with bilateral orchidectomy for Persistent Mullerian duct syndrome with seminoma testes: Case report

    PubMed Central

    Palanisamy, Senthilnathan; Patel, Nikunj D.; Sabnis, Sandeep C.; Palanisamy, Nalankilli; Vijay, Anand; Chinnusamy, Palanivelu

    2015-01-01

    Persistent Mullerian duct syndrome (PMDS) is one of the three rare intersex disorders caused by defective anti-mullerian hormone or its receptor, characterized by undescended testes with presence of underdeveloped derivatives of mullerian duct in genetically male infant or adult with normal external genitals and virilization. This population will essentially have normal, 46(XY), phenotype. We hereby present a case of PMDS, presented with incarcerated left inguinal hernia associated with cryptorchidism and seminoma of right testes. Patient underwent laparoscopic hernia repair with bilateral orchidectomy and hysterectomy with uneventful postoperative recovery. Here we highlight the importance of minimal access approach for this scenario in terms of better visualization, less blood loss, combining multiple procedures along with early return to work and excellent cosmetic outcome.

  14. Congenital Bilateral Retinal Detachment in Two Siblings with Osteoporosis-Pseudoglioma Syndrome.

    PubMed

    Welinder, Lotte G; Robitaille, Johane M; Rupps, Rosemarie; Boerkoel, Cornelius F; Lyons, Christopher J

    2015-01-01

    The birth of a bilaterally blind child is catastrophic for families and a challenging diagnostic and management problem for ophthalmologists. Early identification of the underlying cause and its genetic basis helps initiate possible treatment, delineate prognosis, and identify risks for future pregnancies. In some cases, an early diagnosis can also influence the treatment of other family members. We report two sisters with bilateral retinal detachment and retro-lental masses from birth with no detectable NDP or FZD4 mutations. They were born to parents without detectable retinal anomalies. At 1 year of age, the elder sister had low impact bone fractures, and further evaluation identified severe osteopenia and multiple spinal compression fractures. Molecular testing identified biallelic lipoprotein receptor-related protein 5 (LRP5) mutations (NM_002335.3:c. [889dupA]; [2827 + 1G > A]) confirming a diagnosis of osteoporosis-pseudoglioma (OPPG) syndrome. After this diagnosis, the father and mother were found to have low bone mass and the father started on therapy. We conclude that early detection of LRP5 mutations is important for initiation of treatment of reduced bone density in the patients and their carrier relatives. PMID:25945592

  15. Single-Session CT-Guided Percutaneous Microwave Ablation of Bilateral Adrenal Gland Hyperplasia Due to Ectopic ACTH Syndrome.

    PubMed

    Sarma, Asha; Shyn, Paul B; Vivian, Mark A; Ng, Ju-Mei; Tuncali, Kemal; Lorch, Jorchen H; Zaheer, Sarah N; Gordon, Michael S; Silverman, Stuart G

    2015-10-01

    Bilateral adrenalectomy is currently the only available treatment for adrenocorticotropic hormone (ACTH)-dependent Cushing's syndrome (ectopic ACTH syndrome) that is refractory to pharmacologic therapy. We describe two patients with refractory ectopic ACTH syndrome who were treated with CT-guided percutaneous microwave ablation of both hyperplastic adrenal glands in a single session: O ne was not a surgical candidate, and the other had undergone unsuccessful surgery. Following the procedure, both patients achieved substantial decreases in serum cortisol, symptomatic improvement, and decreased anti-hypertensive medication requirements. PMID:25762486

  16. Proximal paraparesis due to aortic dissection extending into bilateral carotid arteries in a patient with Loeys-Dietz syndrome.

    PubMed

    Goshgarian, C; Lugo, A; Salazar, R

    2013-12-01

    The authors report a 66 year-old female with past medical history relevant for thoracic abdominal aneurysm who presented with a complaint of chest pain radiating into her neck. The physical examination was significant for the distinctive facial features of wide spaced eyes and V-shaped uvula. Thoracic CT scan revealed a type I aortic dissection which warranted immediate surgical repair. On post-op day one she was noted to be confused and was found to have acute bilateral lower extremity paraparesis with proximal predominance. Furthermore, her left radial artery line had no pulse waves and no brachial, radial, or ulnar pulses could be detected with Doppler ultrasound. Emergent head CT scan revealed bilateral postcentral gyri infarctions and the thoracic CT scan demonstrated extension of the dissection into the aortic branches, including the left brachial and the bilateral carotid arteries. Consequently, surgical brachial artery repair ensued. In the interim, a repeated head CT scan demonstrated new ischemic infarcts involving the bilateral frontal lobes. Anticoagulation was not indicated due to the high risk of bleeding at surgical site. Genetic testing confirmed the presence of a mutation in the TGFBR2 gene at exon 5. Loeys-Dietz syndrome is an autosomal dominant disease caused by heterozygous mutations in the genes encoding type I or II transforming growth factor-? (TGF-?) receptor. Loeys-Dietz syndrome manifests with aggressive vascular pathology. This case underscores the importance of recognition of this spectrum of clinical and pathologic manifestations to identify and manage Loeys-Dietz syndrome. PMID:23591182

  17. Age-Related Differences and Heritability of the Perisylvian Language Networks

    PubMed Central

    Dell'Acqua, Flavio; Rijsdijk, Frühling V.; Kane, Fergus; Picchioni, Marco; McGuire, Philip; Toulopoulou, Timothea; Georgiades, Anna; Kalidindi, Sridevi; Kravariti, Eugenia; Murray, Robin M.; Murphy, Declan G.; Craig, Michael C.

    2015-01-01

    Acquisition of language skills depends on the progressive maturation of specialized brain networks that are usually lateralized in adult population. However, how genetic and environmental factors relate to the age-related differences in lateralization of these language pathways is still not known. We recruited 101 healthy right-handed subjects aged 9–40 years to investigate age-related differences in the anatomy of perisylvian language pathways and 86 adult twins (52 monozygotic and 34 dizygotic) to understand how heritability factors influence language anatomy. Diffusion tractography was used to dissect and extract indirect volume measures from the three segments of the arcuate fasciculus connecting Wernicke's to Broca's region (i.e., long segment), Broca's to Geschwind's region (i.e., anterior segment), and Wernicke's to Geschwind's region (i.e., posterior segment). We found that the long and anterior arcuate segments are lateralized before adolescence and their lateralization remains stable throughout adolescence and early adulthood. Conversely, the posterior segment shows right lateralization in childhood but becomes progressively bilateral during adolescence, driven by a reduction in volume in the right hemisphere. Analysis of the twin sample showed that genetic and shared environmental factors influence the anatomy of those segments that lateralize earlier, whereas specific environmental effects drive the variability in the volume of the posterior segment that continues to change in adolescence and adulthood. Our results suggest that the age-related differences in the lateralization of the language perisylvian pathways are related to the relative contribution of genetic and environmental effects specific to each segment. SIGNIFICANCE STATEMENT Our study shows that, by early childhood, frontotemporal (long segment) and frontoparietal (anterior segment) connections of the arcuate fasciculus are left and right lateralized, respectively, and remain lateralized throughout adolescence and early adulthood. In contrast, temporoparietal (posterior segment) connections are right lateralized in childhood, but become progressively bilateral during adolescence. Preliminary twin analysis suggested that lateralization of the arcuate fasciculus is a heterogeneous process that depends on the interplay between genetic and environment factors specific to each segment. Tracts that exhibit higher age effects later in life (i.e., posterior segment) appear to be influenced more by specific environmental factors. PMID:26377454

  18. Bilateral stenosis of carotid siphon in Hutchinson-Gilford progeria syndrome.

    PubMed

    Narazaki, Ryo; Makimura, Mika; Sanefuji, Masafumi; Fukamachi, Shigeru; Akiyoshi, Hidetaka; So, Hidenori; Yamamura, Kenichiro; Doisaki, Sayoko; Kojima, Seiji; Ihara, Kenji; Hara, Toshiro; Ohga, Shouichi

    2013-08-01

    Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature aging disease, caused by a de novo mutation of lamin-A gene, LMNA G608G. Accumulation of abnormal lamin-A (progerin) compromises nuclear membrane integrity and results in the accelerated senescence. Affected patients show a typical feature of birdlike face, alopecia, sclerotic skin, loss of subcutaneous fat, and short stature with advancing years. Neonatal scleroderma is the first presentation, although early diagnosis is challenging. The leading cause of death is cardio-/cerebro-vascular accidents associated with atherosclerosis. However, not all findings may recapitulate the aging process. We herein report a 9-year-old Japanese male with HGPS who developed cerebral infarction. The genetic study of peripheral blood-derived DNA determined a heterozygous c.1824C>T mutation, p.G608G. Telomere length of lymphocytes was normal. Bilateral stenosis of carotid siphons was prominent, while systemic arteriosclerosis was unremarkable assessed by the ankle-brachial index, carotid ultrasound imaging and funduscopic study. HGPS patients have marked loss and functional defects in vascular smooth muscle cells, leading to the vulnerability to circulatory stress. Symmetrical stenosis of siphons might occur as a distinctive cerebral vasculopathy of HGPS, rather than simple vascular senescence. Peripheral blood study on LMNA G608G and telomere length could screen progerias in infancy for early therapeutic intervention. PMID:23141186

  19. A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement.

    PubMed

    König, Arne; Happle, Rudolf; Fink-Puches, Regina; Soyer, Hans Peter; Bornholdt, Dorothea; Engel, Hartmut; Grzeschik, Karl-Heinz

    2002-04-01

    The CHILD syndrome (MIM 308050), an acronym for congenital hemidysplasia with ichthyosiform nevus and limb defects, is an X-linked dominant trait with lethality for male embryos. Recently, we elucidated the underlying gene defect by demonstrating point mutations in NSDHL (NAD[P]H steroid dehydrogenase-like protein) at Xq28 in 6 patients with classic CHILD syndrome. The most striking clinical feature is an inflammatory nevus that usually shows a unique lateralization with strict midline demarcation. Ipsilateral defects involve all skeletal structures and internal organs such as the brain, the lung, the heart, or the kidney. As an exception to this rule, in some cases the CHILD nevus may occur in a more or less bilateral distribution. In 1997 Fink-Puches et al described a case of CHILD nevus with an almost symmetric arrangement. To test the correctness of the diagnosis, we now examined blood lymphocytes of this patient by single-strand conformation analysis and genomic sequencing. We identified a novel missense mutation in NSDHL that potentially may impair protein function. We conclude that a diagnosis of CHILD syndrome can be based on clinical features such as the highly characteristic morphology of the CHILD nevus. A symmetric distribution of this nevus can exceptionally be seen in patients with CHILD syndrome, and this bilateral involvement should not mislead the clinician to any other diagnosis. Apparently, the effect of random X-inactivation is responsible for different patterns of cutaneous involvement in female carriers of NSDHL mutations. PMID:11907515

  20. Adipsic hypernatremia and bilateral renal stones in a child with ectrodactyly-ectodermal dysplasia-cleft lip-palate (EEC) syndrome.

    PubMed

    Shawky, R M; Elsayed, S M; Sadik, D I; Gad, S; Seifeldin, N S

    2010-01-01

    EEC syndrome an autosomal dominant disorder with variable expression and cardinal signs of ectrodactyly, ectodermal dysplasia, and orofacial clefts. In this report, we describe a patient with EEC syndrome, adipsic hypernatremia without brain anomalies, and bilateral renal stones, two manifestations that were not reported before. PMID:20681222

  1. Extensive Bilateral Lemierre Syndrome due to Methicillin-Resistant Staphylococcus epidermidis in a Patient with Lung Adenocarcinoma

    PubMed Central

    Choi, Bo Mi; Son, Seong Wan; Park, Chan Kwon; Lee, Sang-Hoon

    2015-01-01

    Lemierre syndrome (LS) is a septic thrombophlebitis of the internal jugular vein (IJV) following an oropharyngeal infection. LS is commonly caused by normal anaerobic flora and treated with appropriate antibiotics and anticoagulation therapy. Although the incidence of disease is very rare, 15% cases of LS are fatal even in the antibiotic era because of disseminated septic thromboemboli. We reported a case of extensive bilateral LS due to methicillin-resistant Staphylococcus epidermidis in a 63-year-old female with lung adenocarcinoma. Initial examination revealed a retropharyngeal abscess; hence, intravenous ceftriaxone and steroid were initiated empirically. However, pulmonary thromboembolism developed and methicillin-resistant S. epidermidis was identified in the bacterial culture. Despite intensive antibiotic and anticoagulation therapies, extensive septic thrombophlebitis involving the bilateral IJV and superior vena cava developed. Adjunctive catheter-directed thrombolysis and superior vena cava stenting were performed and the patient received antibiotic therapy for an additional 4 weeks, resulting in complete recovery. PMID:26175788

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

    PubMed Central

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

    2015-01-01

    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

  3. Metachronous Bilateral Testicular Leydig-Like Tumors Leading to the Diagnosis of Congenital Adrenal Hyperplasia (Adrenogenital Syndrome)

    PubMed Central

    Vukina, Josip; Chism, David D.; Sharpless, Julie L.; Raynor, Mathew C.; Milowsky, Matthew I.; Funkhouser, William K.

    2015-01-01

    A 33-year-old male with a history of left testis Leydig cell tumor (LCT), 3-month status after left radical orchiectomy, presented with a rapidly enlarging (0.6?cm to 3.7?cm) right testicular mass. He underwent a right radical orchiectomy, sections interpreted as showing a similar Leydig cell-like oncocytic proliferation, with a differential diagnosis including metachronous bilateral LCT and metachronous bilateral testicular tumors associated with congenital adrenal hyperplasia (a.k.a. “testicular adrenal rest tumors” (TARTs) and “testicular tumors of the adrenogenital syndrome” (TTAGS)). Additional workup demonstrated a markedly elevated serum adrenocorticotropic hormone (ACTH) and elevated adrenal precursor steroid levels. He was diagnosed with congenital adrenal hyperplasia, 3?-hydroxysteroid dehydrogenase deficiency (3BHSD) type, and started on treatment. Metachronous bilateral testicular masses in adults should prompt consideration of adult presentation of CAH. Since all untreated CAH patients are expected to have elevated serum ACTH, formal exclusion of CAH prior to surgical resection of a testicular Leydig-like proliferation could be accomplished by screening for elevated serum ACTH. PMID:26351608

  4. Perisylvian Functional Connectivity during Processing of Sentential Negation.

    PubMed

    Bahlmann, Jörg; Mueller, Jutta L; Makuuchi, Michiru; Friederici, Angela D

    2011-01-01

    Every language has the means to reverse the truth value of a sentence by using specific linguistic markers of negation. In the present study we investigated the neural processing costs afforded by the construction of meaning in German sentences containing negation in different clause types. We studied negations within and across clause boundaries as well as single and double negations. Participants read German sentences comprising of affirmations, single negations in the main or in the subordinate clause, or double negations. As a result, we found a network including the left inferior frontal gyrus (pars triangularis, BA 45), and the left inferior parietal gyrus (BA 40) to be activated whenever negations in the main clause had to be processed. Additionally, we found increased functional coupling between the left pars triangularis (BA 45), left pars opercularis (BA 44), left SMA (BA 6), and left superior temporal gyrus (BA 42) during the processing of main clause negations. The study shows that in order to process negations that require semantic integration across clause boundaries left BA 45 interplays with other areas that have been related to language processing and/or the processing of cognitive demands and logical/conditional reasoning. Thus, the results indicate that the left perisylvian language network synchronizes in order to resolve negations, in particular, whenever requirements on meaning integration are enhanced. PMID:21687464

  5. Bilateral shoulder dislocation in a 7-year-old child with progeria syndrome.

    PubMed

    Sowa, Bronis?aw

    2009-01-01

    Shoulder dislocation is a rare skeletal trauma in childhood and progeria is a rare disease. Our patient had bilateral shoulder dislocation associated with a low energy trauma. Treatment consisted in reposition under general anaesthesia and immmobilisation in a figure of eight cast for 2 weeks. PMID:19240685

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

    PubMed Central

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

    2012-01-01

    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

  7. Staged, open, no-ischemia nephron-sparing surgery for bilateral-multiple kidney tumors in a patient with birt-hogg-dubé syndrome.

    PubMed

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

    2012-01-01

    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

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

    PubMed Central

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

    2013-01-01

    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

  9. Anatomical characteristics and surgical treatment of bilateral congenital upper eyelid entropion in an infant with neonatal progeroid syndrome.

    PubMed

    Yaz?c?, Bülent; Toka, Fatih; Çömez, Arzu T

    2014-01-01

    Neonatal progeroid syndrome (NPS) is a rare, autosomal recessive disorder characterized by an aged face, wrinkled skin, decreased subcutaneous fat, and neonatal teeth. The authors describe herein a 2-month-old infant with NPS who underwent eyelid surgery for bilateral upper eyelid entropion and stromal keratitis. The preoperative examination revealed thin, narrow, and soft tarsal plates. The eyelids were large and floppy, and there was no preaponeurotic fat tissue. The entropion was successfully treated by the levator muscle advancing onto the tarsus, anterior lamellar repositioning, horizontal eyelid shortening, and canthal resuspension. Upper eyelid entropion may occur relatively frequently in infants with NPS, and the special anatomical features of the eyelid should be considered while performing entropion surgery. PMID:24807800

  10. Restoration of Severely Impaired Eyesight in an Adolescent with Down Syndrome and Bilateral Cataract in South Asia

    PubMed Central

    Schönfeld, Carl-Ludwig; Hennig, Albrecht

    2013-01-01

    Purpose To report the recovery of visual function after phacoemulsification in a 16-year-old adolescent with Down syndrome (DS) from Saharsa, India. Methods Interventional case report and short review of the pertinent literature. Results A 16-year-old South Asian male with DS and bilateral cataract underwent successful surgery in both eyes after considerable difficulty for his parents including cross-border travel from India into Nepal. After the operation, the patient responded to visual stimuli (e.g. movement of hands) that had eluded him prior to surgery, and thus the additional obstacle to social participation imposed by the impaired eyesight could be removed. Conclusions The establishment of basic ophthalmological surgery in developing countries is feasible and can yield extraordinary benefits for individual patients. PMID:24403902

  11. A case of WAGR syndrome in association with developmental glaucoma requiring bilateral Baerveldt glaucoma implants and subsequent tube repositioning

    PubMed Central

    Akagi, Tadamichi; Yoshikawa, Munemitsu; Nakanishi, Hideo; Yoshimura, Nagahisa

    2015-01-01

    Glaucoma drainage device implantation is efficacious for the treatment of pediatric glaucoma patients when multiple angle surgeries fail. However, tube touching of the corneal endothelium is one of the major postoperative complications to deal with. A 15-month-old male patient with Wilms’ tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome was diagnosed with bilateral developmental glaucoma. He underwent Baerveldt glaucoma implant (BGI) surgeries in both eyes after multiple failed trabeculotomies. The tube in his right eye was touching the cornea 15 months after BGI surgery. To avoid corneal endothelium damage, BGI tube repositioning with scleral fixation was performed without serious complications. The bilateral BGI surgeries achieved successful intraocular pressure reduction for over 2 years and tube repositioning with scleral fixation of BGI tube was successful for BGI tube malposition. Although careful attention to intraocular pressure and tube malposition is essential after glaucoma drainage device implantation, especially in pediatric cases, BGI surgery is effective in the management of developmental glaucoma following unsuccessful angle surgeries. PMID:26109842

  12. Remission of severe restless legs syndrome and periodic limb movements in sleep after bilateral excision of multiple foot neuromas: a case report

    PubMed Central

    2010-01-01

    Introduction Restless legs syndrome is a sensorimotor neurological disorder characterized by an urge to move the legs in response to uncomfortable leg sensations. While asleep, 70 to 90 percent of patients with restless legs syndrome have periodic limb movements in sleep. Frequent periodic limb movements in sleep and related brain arousals as documented by polysomnography are associated with poorer quality of sleep and daytime fatigue. Restless legs syndrome in middle age is sometimes associated with neuropathic foot dysesthesias. The causes of restless legs syndrome and periodic limb movements in sleep are unknown, but the sensorimotor symptoms are hypothesized to originate in the central nervous system. We have previously determined that bilateral forefoot digital nerve impingement masses (neuromas) may be a cause of both neuropathic foot dysesthesias and the leg restlessness of restless legs syndrome. To the best of our knowledge, this case is the first report of bilateral foot neuromas as a cause of periodic limb movements in sleep. Case presentation A 42-year-old Caucasian woman with severe restless legs syndrome and periodic limb movements in sleep and bilateral neuropathic foot dysesthesias was diagnosed as having neuromas in the second, third, and fourth metatarsal head interspaces of both feet. The third interspace neuromas represented regrowth (or 'stump') neuromas that had developed since bilateral third interspace neuroma excision five years earlier. Because intensive conservative treatments including repeated neuroma injections and various restless legs syndrome medications had failed, radical surgery was recommended. All six neuromas were excised. Leg restlessness, foot dysesthesias and subjective sleep quality improved immediately. Assessment after 18 days showed an 84 to 100 percent reduction of visual analog scale scores for specific dysesthesias and marked reductions of pre-operative scores of the Pittsburgh sleep quality index, fatigue severity scale, and the international restless legs syndrome rating scale (36 to 4). Polysomnography six weeks post-operatively showed improved sleep efficiency, a marked increase in rapid eye movement sleep, and marked reductions in hourly rates of both periodic limb movements in sleep with arousal (135.3 to 3.3) and spontaneous arousals (17.3 to 0). Conclusion The immediate and near complete remission of symptoms, the histopathology of the excised tissues, and the marked improvement in polysomnographic parameters documented six weeks after surgery together indicate that this patient's severe restless legs syndrome and periodic limb movements in sleep was of peripheral nerve (foot neuroma) origin. Further study of foot neuromas as a source of periodic limb movements in sleep and as a cause of sleep dysfunction in patients with or without concomitant restless legs syndrome, is warranted. PMID:20849622

  13. Bilateral Symmetrical Idiopathic Necrotizing Encephalopathy: A New Syndrome in Sprague-Dawley Rats.

    PubMed

    De Jonghe, Sandra; Abbott, David; Vinken, Petra; Moesen, Esther; Feyen, Bianca; Lammens, Lieve; Vynckier, An; De Lahunta, Alexander

    2015-12-01

    This article describes the occurrence of a bilaterally symmetrical encephalopathy in Sprague-Dawley rats, which occurred over the period 2005 to 2012 in our laboratory in both untreated control rats and rats treated with different pharmacologically active compounds. The acute brain lesions consisted of degeneration/necrosis in the ventral areas of the brain mostly with little inflammatory response; in the more rare chronic cases there were numerous lipid-laden macrophages. The areas most consistently affected were the crus cerebri, the ventral midbrain, the pyramids, and the internal capsule. Other areas less frequently affected were the mammillary bodies, the fimbria, the olfactory tubercles, the optic tracts, and the ventral hippocampus. All available data, including clinical signs, gross pathology, clinical pathology, diet, breeding, and housing were collected and are presented. Our investigations did not elucidate the pathogenesis of the lesions, although the infarction-type changes are suggestive of a vascular etiology. To our knowledge, this particular lesion with its consistent distribution pattern has not been reported in the rat literature and its publication is therefore important to the toxicological pathology community, because an unbalanced group distribution in a toxicology study could potentially confound the safety assessment of a compound. PMID:26511844

  14. Bilateral Sturge-Weber and Phakomatosis Pigmentovascularis with Glaucoma, an Overlap Syndrome

    PubMed Central

    Patil, Bharat; Nayak, Bhagabat; Sharma, Reetika; Kumari, Sadhana; Dada, Tanuj

    2015-01-01

    Aim. To report a case of bilateral Sturge-Weber and Phakomatosis pigmentovascularis with secondary glaucoma in a child. Method. Case report. Results. A 4-year-old male child was referred to us for control of intraocular pressure (IOP). Sleeping IOP was 36?mm?Hg in right eye and 28?mm?Hg in the left eye. The sclera of both the eyes showed bluish black pigmentation—melanosis bulbi. Fundus examination of both eyes showed diffuse choroidal hemangiomas with glaucomatous cupping. Nevus flammeus was present on both sides of face along all the 3 divisions of trigeminal nerve with overlying hypertrophy of skin and on left forearm. Nevus fuscocaeruleus was present on upper trunk. All skin lesions were present since birth and were stationary in nature. CT scan of head revealed left-sided cerebral atrophy. Intraocular pressure was controlled after treatment with topical antiglaucoma medications. Pulsed Dye Laser has been advised by dermatologist for skin lesions. Patient has been advised for regular follow-up. Conclusion. The two overlapping dermatological disorders and their association with glaucoma are a rare entity. Management should be targeted both for dermatological and eye conditions. PMID:26064732

  15. Bilateral Pneumothoraces Following BiV ICD Placement: A Case of Buffalo Chest Syndrome

    PubMed Central

    Rali, Aniket S.; Manyam, Harish

    2015-01-01

    Patient: Female, 73 Final Diagnosis: Buffalo chest syndrome Symptoms: — Medication: — Clinical Procedure: Bi-ventricular ICD Specialty: Cardiology Objective: Rare disease Background: Contralateral pneumothorax following device implantation on the left side has been reported in a few cases. The majority of contralateral pneumothoraces showed evidence of atrial perforation on computed tomography (CT), echocardiography, or chest x-rays and required lead revision. To the best of our knowledge there is only 1 other reported case of contralateral pneumothorax without evidence of macro-displacement of the atrial lead. In that case the patient experienced a right-sided pneumothorax on day 1 after undergoing repositioning of the atrial lead. Case Report: The current case is unique on several accounts, including timing of the contralateral pneumothorax and no evidence of associated atrial lead perforation on device interrogation or CT imaging. Furthermore, the appearance of contralateral pneumothorax within 8 hours of clamping of the ipsilateral chest tube argues in favor of a pleuro-pleural fistula. Conclusions: The term ‘buffalo chest’ refers to a single pleural space, with no anatomical separation of the 2 hemithoraces, as seen in an American buffalo or bison. We believe this to be a case of buffalo chest syndrome. PMID:26431396

  16. Bilateral nephrectomy stopped disease progression in plasma-resistant hemolytic uremic syndrome with neurological signs and coma.

    PubMed

    Remuzzi, G; Galbusera, M; Salvadori, M; Rizzoni, G; Paris, S; Ruggenenti, P

    1996-01-01

    Four women were admitted over three years because of anemia and renal failure. They had evidence of hemolytic uremic syndrome (HUS) with severe vascular involvement and glomerular collapse. Despite intensive plasma exchange, all patients developed neurologic signs (with seizures and coma in 2) and papilledema. Three developed refractory hypertension and three required dialysis. All patients had abnormal von Willebrand factor (vWF) fragmentation as reflected by decreased high molecular weight and increased low molecular weight vWF multimers in the circulation. Assuming that the disease was sustained by shear stress-induced abnormal vWF fragmentation in damaged renal microvasculature, bilateral nephrectomy was done. Surgery was followed within two weeks by complete hematologic and clinical remission consistently associated with the restoring of vWF fragmentation pathway to normal. We speculate that in HUS resistant to plasma exchange or infusion, removing the kidneys eliminates a major site of vWF fragmentation, which would limit platelet activation and protect patients from the further spreading of microvascular lesions. PMID:8770981

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

    PubMed Central

    Miller, Joseph

    2013-01-01

    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

  18. Bilateral meningoencephaloceles with cerebrospinal fluid rhinorrhea after facial advancement in the Crouzon syndrome

    PubMed Central

    Panuganti, Bharat A.; Leach, Matthew

    2015-01-01

    Background: Cerebrospinal fluid (CSF) rhinorrhea and encephaloceles are rare complications of craniofacial advancement procedures performed in patients with craniofacial dysostoses (CD) to address the ramifications of their midface hypoplasia including obstructed nasal airway, exorbitism, and impaired mastication. Surgical repair of this CSF rhinorrhea is complicated by occult elevations in intracranial pressure (ICP), potentially necessitating open, transcranial repair. We report the first case in otolaryngology literature of a patient with Crouzon syndrome with late CSF rhinorrhea and encephalocele formation after previous LeFort III facial advancement surgery. Objectives: Describe the case of a patient with Crouzon syndrome who presented with CSF rhinorrhea and encephaloceles as complications of Le Fort III facial advancement surgery. Review the literature pertaining to the incidence and management of post-operative CSF rhinorrhea and encephaloceles. Analyze issues related to repair of these complications, including occult elevations in ICP, the utility of perioperative CSF shunts, and the importance of considering alternative repair schemes to the traditional endonasal, endoscopic approach. Methods: Review of the literature describing CSF rhinorrhea and encephalocele formation following facial advancement in CD, focusing on management strategies. Results: CSF rhinorrhea and encephalocele formation are rare complications of craniofacial advancement procedures. Occult elevations in ICP complicate the prospect of permanent surgical repair, potentially necessitating transcranial repair and the use of CSF shunts. Though no consensus exists regarding the utility of perioperative CSF drains, strong associations exist between elevated ICP and failed surgical repair. Additionally, the anatomic changes in the frontal and ethmoid sinuses after facial advancement present a challenge to endoscopic repair. Conclusion: Otolaryngologists should be aware of the possibility of occult elevations in ICP and sinonasal anatomic abnormalities when repairing CSF rhinorrhea in patients with CD. Clinicians should consider CSF shunt placement and carefully weigh the advantages of the transcranial approach versus endonasal, endoscopic techniques. PMID:26302737

  19. Beyond the amygdala: Linguistic threat modulates peri-sylvian semantic access cortices.

    PubMed

    Weisholtz, Daniel S; Root, James C; Butler, Tracy; Tüscher, Oliver; Epstein, Jane; Pan, Hong; Protopopescu, Xenia; Goldstein, Martin; Isenberg, Nancy; Brendel, Gary; LeDoux, Joseph; Silbersweig, David A; Stern, Emily

    2015-12-01

    In this study, healthy volunteers were scanned using functional magnetic resonance imaging (fMRI) to investigate the neural systems involved in processing the threatening content conveyed via visually presented "threat words." The neural responses elicited by these words were compared to those elicited by matched neutral control words. The results demonstrate that linguistic threat, when presented in written form, can selectively engage areas of lateral temporal and inferior frontal cortex, distinct from the core language areas implicated in aphasia. Additionally, linguistic threat modulates neural activity in visceral/emotional systems (amygdala, parahippocampal gyrus and periaqueductal gray), and at earlier stages of the visual-linguistic processing stream involved in visual word form representations (ventral occipitotemporal cortex). We propose a model whereby limbic activation modulates activity at multiple nodes along the visual-linguistic-semantic processing stream, including a perisylvian "semantic access network" involved in decoding word meaning, suggesting a dynamic interplay between feedforward and feedback processes. PMID:26575986

  20. Segregation of Lexical and Sub-Lexical Reading Processes in the Left Perisylvian Cortex

    PubMed Central

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

    2012-01-01

    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

  1. Bilateral Molariform Mandibular Second Premolars

    PubMed Central

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

    2015-01-01

    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

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

    PubMed Central

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

    2013-01-01

    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

  3. Bilateral acromial dimples: a case report and review of the literature.

    PubMed

    Debosz, Joanna; Haber, Richard M

    2014-01-01

    Bilateral acromial dimples are uncommon in pediatric dermatology. They are usually found as a sporadic finding with limited clinical symptoms but may cause concern for parents. They can occur spontaneously or be inherited. Bilateral acromial dimples may occasionally be present as part of more complex syndromes. This article reports an 18-month-old girl with congenital bilateral acromial dimples and presents a classification of this unusual entity. A literature review of English and non-English publications was performed. We report the second case of bilateral acromial dimples seen in the context of maternal cocaine use during pregnancy. Our case is probably sporadic and nonsyndromal. We suggest that bilateral acromial dimples be classified as syndromal or nonsyndromal and that nonsyndromal cases be subdivided into inherited and sporadic. Although bilateral acromial dimples can be seen in 18q deletion syndrome, Apert syndrome, Say syndrome, and a recently described syndrome in Brazil, our review of the literature does not support the association with trisomy 9 syndrome. Dermatologists need to be aware of this unusual cutaneous finding and potential syndromal associations. The significance of the association with fetal exposure to cocaine during pregnancy has yet to be determined. The biological mother was not available for assessment for bilateral acromial dimples. PMID:23171068

  4. Bilateral Integrative Medicine, Obviously

    PubMed Central

    Stumpf, Steven H.; Shapiro, Simon J.

    2006-01-01

    Unstated and unacknowledged bias has a profound impact on the nature and implementation of integrative education models. Integrative education is the process of training conventional biomedical and traditional Chinese medicine practitioners in each tradition such that patient care may be effectively coordinated. A bilateral education model ensures that students in each tradition are cross-taught by experts from the ‘other’ tradition, imparting knowledge and values in unison. Acculturation is foundational to bilateral integrative medical education and practice. Principles are discussed for an open-minded bilateral educational model that can result in a new generation of integrative medicine teachers. PMID:16786060

  5. Bilateral Anterior Shoulder Dislocation

    PubMed Central

    Siu, Yuk Chuen; Lui, Tun Hing

    2014-01-01

    Introduction: Unilateral anterior shoulder dislocation is one of the most common problems encountered in orthopedic practice. However, simultaneous bilateral anterior dislocation of the shoulders is quite rare. Case Presentation: We report a case of a 75-year-old woman presented with simultaneous bilateral anterior shoulder dislocation following a trauma, complicated with a traction injury to the posterior cord of the brachial plexus. Conclusions: Bilateral anterior shoulder dislocation is very rare. The excessive traction force during closed reduction may lead to nerve palsy. Clear documentation of neurovascular status and adequate imaging before and after a reduction should be performed. PMID:25685749

  6. Echinoderms have bilateral tendencies.

    PubMed

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

    2012-01-01

    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

  7. Bilateral Parotid Tuberculosis

    PubMed Central

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

    2011-01-01

    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

  8. Bilateral vocal fold chondromas.

    PubMed

    Lai, Ying-Ta; Petty, Brian E; Huang, Wei; Dailey, Seth H

    2013-03-01

    Laryngeal chondromas are uncommon, benign, slow-growing neoplasms with few reports in the literature. Vocal fold chondromas are even more rare, and all reported cases are unilateral. Here, we present the first case of bilateral vocal fold chondromas. Detailed evaluation, careful resection with phonomicrosurgery technique, and perioperative voice therapy are considered essential for the management. PMID:23406842

  9. Bilateral maculopathy associated with Pierre Robin sequence.

    PubMed

    Witmer, Matthew T; Vasan, Ryan; Levy, Richard; Davis, Jessica; Chan, R V Paul

    2012-08-01

    Pierre Robin sequence has been associated with a number of ocular complications, including myopia, strabismus, Möbius syndrome, nasolacrimal duct obstruction, glaucoma, cataract, microphthalmos, coloboma of choroid, and retinal detachment. We report a 10-day-old boy who presented with micrognathia, glossoptosis, and cleft palate as well as multiple congenital anomalies. Ophthalmic examination was notable for bilateral maculopathy, with focal areas of retinal and retinal pigment epithelial atrophy. The association of Pierre Robin sequence and maculopathy has been reported only twice previously. PMID:22929457

  10. Severe Acute Orthopnea: Ipilimumab-Induced Bilateral Phrenic Nerve Neuropathy.

    PubMed

    Jinnur, Praveen; Lim, Kaiser G

    2015-08-01

    Ipilimumab is a monoclonal antibody used in the treatment of unresectable or metastatic melanoma. Several immune-related adverse events including potential fatal events have been reported following its use. We report a case of a 66-year-old man who presented with severe acute exertional dyspnea and orthopnea following administration of ipilimumab for metastatic melanoma. Although various peripheral neuropathy syndromes associated with ipilimumab have been reported, bilateral phrenic nerve paralysis has not been previously reported. This case also highlights the clinical features of bilateral phrenic nerve neuropathy. Pulmonologists have to be aware of these unusual immune-related respiratory adverse events in patients being treated with monoclonal antibodies. PMID:25956728

  11. Synchronous Bilateral Breast Cancers

    PubMed Central

    Subramanyan, Annapurneswari; Radhakrishna, Selvi

    2015-01-01

    Background Bilateral breast cancer (BBC) is not an uncommon entity in contemporary breast clinics. Improved life expectancy after breast cancer treatment and routine use of contra-lateral breast mammography has led to increased incidence of BBC. Our study objective was to define the epidemiological and tumour characteristics of BBC in India. Materials and Methods A total of 1251 breast cancer patients were treated during the period January 2007 to March 2015 and 30 patients were found to have BBC who constituted the study population (60 tumour samples). Synchronous bilateral breast cancers (SBC) was defined as two tumours diagnosed within an interval of 6 months and a second cancer diagnosed after 6 months was labelled as metachronous breast cancer (MBC). Analyses of patient and tumour characteristics were done in this prospective data base of BBC patients. Results Median patient age was 66 years (range 39-85). Majority of the patients had SBC (n=28) and in 12 patients the second tumour was clinically occult and detected only by mammography of the contra-lateral breast. The second tumour was found at lower tumour size compared to the first in 73% of cases and was negative for axillary metastasis in 80% of cases (24/30). Infiltrating ductal carcinoma was the commonest histological type (n=51) and majority of the tumours were ER/PR positive (50/60). Her2 was overexpressed in 13 tumours (21%). Over 70% (22/30) of patients had similar histology in both breasts and amongst them grade concordance was present in about 69% (15/22) of patients. Concordance rates of ER, PR and Her2 statuses were 83%, 80% and 90% respectively. Bilateral mastectomy was the commonest surgery performed in 80% of the patients followed by bilateral breast conservation in 13%. At the end of study period, 26 patients were alive and disease free. Median survival was 29 months (range 3-86 months). Conclusion In most patients with BBC, the second tumour is identified at an early stage than index tumours supporting the importance of contralateral breast cancer screening at the time of primary diagnosis and during follow-up. BBC occurs more frequently in old age group and majority of these tumours are estrogen dependent. There is good pathological concordance between the index tumour and the contralateral breast cancer. PMID:26500995

  12. Fraser Syndrome.

    PubMed

    Saleem, Adnan Aslam; Siddiqui, Sorath Noorani

    2015-10-01

    Fraser's Syndrome (FS) is a rare autosomal recessive disorder with a spectrum of malformations. The most consistent features are Cryptophthalmos (CO), syndactyly, genitourinary tract abnormalities, laryngeal and tracheal anomalies, craniofacial dysmorphism, malformations of the ear and nose, orofacial clefting and musculoskeletal defects. FS is genetically heterogeneous; so far mutations in FRAS1, FREM2and GRIP1genes have been linked to FS. FS can be diagnosed on clinical examination, pre-natal ultrasound or perinatal autopsy. We present a case of a 3 months old child born to consanguineous healthy parents with bilateral complete CO, unilateral microphthalmia, hypertelorism, syndactyly (hands and feet bilaterally), ambiguous genitalia with cryptorchidism and an umbilical hernia. We also present the criteria for diagnosing FS and the significant features on pre-natal ultrasonography. Around 200 case reports of patients with FS and CO have been published. To our knowledge, this is the first reported case of FS in Pakistan. PMID:26522198

  13. Thoracic Outlet Syndrome Following Breast Implant Rupture

    PubMed Central

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

    2015-01-01

    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

  14. Bilateral acute iris transillumination (BAIT) initially misdiagnosed as acute iridocyclitis.

    PubMed

    Gonul, Saban; Bozkurt, Banu

    2015-01-01

    Bilateral acute iris transillumination (BAIT) is a relatively new clinical entity characterized by bilateral acute loss of iris pigment epithelium, iris transillumination, pigment dispersion in the anterior chamber, and sphincter paralysis. We report the case of a 30-year-old male who was initially diagnosed with acute iridocyclitis in a different clinic and treated with topical and systemic corticosteroids. He was referred to our clinic to seek another opinion because his symptoms did not improve. An ocular examination revealed bilateral pigment dispersion into the anterior chamber, diffuse iris transillumination, pigment dusting on the anterior lens capsule, atonic and distorted pupils, and increased intraocular pressure, suggesting a diagnosis of BAIT rather than iridocyclitis. Clinicians should be aware of the differential diagnosis of syndromes associated with pigment dispersion from iridocyclitis to avoid aggressive anti-inflammatory therapy and detailed investigation for uveitis. PMID:25945534

  15. Silicosis with bilateral spontaneous pneumothorax

    PubMed Central

    Fotedar, Sanjay; Chaudhary, Dhruva; Singhla, Vikas; Narang, Rajat

    2010-01-01

    Presentation with simultaneous bilateral pneumothorax is uncommon and usually in the context of secondary spontaneous pneumothorax. The association of pneumothorax and silicosis is infrequent and most cases are unilateral. Bilateral pneumothorax in silicosis is very rare with just a few reports in medical literature. PMID:20931041

  16. Hemophagocytic Lymphohistiocytosis After Initiation of Chemotherapy for Bilateral Adrenal Neuroblastoma.

    PubMed

    Nascimento, Fábio A; Nery, Juliane; Trennepohl, Joanna; Pianovski, Mara A D

    2016-01-01

    Hemophagocytic lymphohistiocytosis (HLH) is a rare and aggressive syndrome characterized by overactivation of the immune system. Although secondary HLH has been frequently associated with malignancies, this entity is rarely triggered by solid tumors, such as neuroblastomas. Herein, we describe a 14-month-old girl with a late diagnosis of bilateral adrenal neuroblastoma who developed HLH 6 days after the initiation of chemotherapy. On the basis of the large tumoral mass and the time of onset of her symptoms suggestive of HLH, we hypothesize that tumor cell destruction induced by chemotherapy drugs was the trigger to the development of hematophagocytic lymphohistiocytosis syndrome. PMID:26583611

  17. Syndrome In Question*

    PubMed Central

    do Nascimento, Ana Cláudia Mendes; Gaspardo, Daniela Barros Cortez; Cortez, Tatiana Mimura; Miot, Hélio Amante

    2014-01-01

    The authors present a male 40-year-old patient with established diagnosis of Behçet's disease which had evolved to recurrent bilateral auricular polychondritis crises. MAGIC syndrome (mouth and genital ulcers with inflamed cartilage) is rare and groups together patients with this clinical picture without necessarily fulfilling the clinical criteria for Behçet's disease or relapsing polychondritis, demonstrating an independent disorder. PMID:24626673

  18. Bilateral diaphragmatic paralysis after kidney surgery.

    PubMed

    Sozzo, S; Carratù, P; Damiani, M F; Falcone, V A; Palumbo, A; Dragonieri, S; Resta, O

    2012-06-01

    A 57-year-old woman underwent an enucleoresection of her right kidney angiomyolipoma. Two weeks later she was admitted to our hospital because of dyspnea at rest with orthopnea. The chest x-ray showed the elevation of both hemidiaphragms and the measurement of the sniff transdiaphragmatic pressure confirmed the diagnosis of bilateral diaphragmatic paralysis. A diaphragm paralysis can be ascribed to several causes, i.e. trauma, compressive events, inflammations, neuropathies, or it can be idiopathic. In this case, it was very likely that the patient suffered from post-surgery neuralgic amyotrophy. To our knowledge, there are only a few reported cases of neuralgic amyotrophy, also known as Parsonage-Turner Syndrome, which affects only the phrenic nerve as a consequence of a surgery in an anatomically distant site. PMID:23193847

  19. Isolated tuberculous lymphadenitis presenting as bilateral buboes

    PubMed Central

    Palanisamy, Arun Prasath; Samuel, Soumya; Vadivel, Sivasubramanian; Kothandapany, Srivenkateswaran

    2015-01-01

    Inguinal and femoral buboes are defined as localized enlargement of lymph nodes in the groin that are painful, and may or may not be fluctuant. We report a case of 42-year-old female who presented with bilateral inguinal swelling of 6 months duration. After a complete evaluation, she was found to be a case of isolated inguinal tuberculous lymphadenitis. There was complete resolution with standard antituberculous therapy. Isolated inguinal tuberculous lymphadenitis though a rare entity in developed countries is not uncommon in developing nations. In this era of syndromic management of sexually transmitted diseases, which carries its own pros and cons, this case report emphasizes the need to look beyond the venereal causes and calls for thorough evaluation and management. PMID:26392662

  20. Bilateral Achilles tendon enlargement.

    PubMed

    Huang, Lu; Miao, Xu-dong; Yang, Di-sheng; Tao, Hui-min

    2011-12-01

    Cerebrotendinous xanthomatosis is a rare, autosomal-recessive, lipid-storage disease with accumulation of cholestanol in most tissues, particularly within the Achilles tendons. It has been characterized both clinically and biochemically, and recently from the molecular biological aspect as well. Juvenile cataract, childhood diarrhea, mental retardation, cerebellar ataxia, and tendon xanthomas are the most prominent features of this disease. Bilateral symmetrical firm masses of Achilles tendons may be the first symptom the patient recognizes because it can jeopardize his or her ability to walk. However, the treatment strategies for tendon tumors vary. In a recent case, we diagnosed the disease properly, according to the clinical manifestations and the radiological and laboratory examinations. The genetic mutation was characterized by analyzing sterol 27-hydroxylase from the patient's family (located on nucleotide 599) and led to a nonsense mutation. It is a unique type of mutation that has never been reported to our knowledge. Tendon lesions are characterized by the loss of muscle fibers and accumulation of lipid products. To help the patient regain the strength of the Achilles tendon and walking abilities, a large area of tendon tumor was excised, followed by reconstruction with a tibialis posterior allograft, which is the second strongest tendon in the foot and ankle. Although the use of this type of graft is uncommon, the final result was satisfactory. At the 10-month follow-up examination, the patient could walk easily without pain. This case report suggests that the surgical procedure will provide an alternative for the repair of large-area degenerative Achilles tendons. PMID:22146219

  1. Atraumatic painless compartment syndrome.

    PubMed

    Blanchard, Scott; Griffin, Gregory D; Simon, Erin L

    2013-12-01

    Acute compartment syndrome is a time-sensitive diagnosis and surgical emergency because it poses a threat to life and the limbs. It is defined by Matsen et al (Surg Gynecol Obstet. 1978;147(6):943–949) as "a condition in which increased pressure within a limited space compromises the circulation and function of the tissues within that space." The most common cause of compartment syndrome is traumatic injury. A variety of other conditions such as vascular injuries, bleeding disorders, thrombosis, fasciitis, gas gangrene, rhabdomyolysis, prolonged limb compression, cellulitis, and nephrotic syndrome may also cause compartment syndrome. Patients who are elderly, have preexisting nerve damage, or have psychopathology may have an atypical presentation. This case highlights the first report of a 75-year-old woman who developed painless bilateral compartment syndrome in the absence of traumatic injury. PMID:24041642

  2. [Recovery of Cushing syndrome revealing McCune-Albright syndrome].

    PubMed

    Halioui-Louhaichi, S; Dridi, Y; Azzabi, O; Selmi, I; Fetni, I; Siala, N; Maherzi, A

    2016-01-01

    Cushing syndrome (CS) is a rare feature of McCune-Albright syndrome. Treatments consist of bilateral adrenalectomy followed by lifelong glucocorticoid and mineralocorticoid treatment. However, cases of spontaneous remission of CS have been reported in the literature. We report a case of McCune-Albright syndrome with CS treated with metyrapone for 30 months with prolonged remission after a 12-year follow-up. Adrenalectomy may be avoided in some cases of CS caused by McCune-Albright syndrome. Metyrapone could be a good alternative to surgical treatment. PMID:26552628

  3. Down's syndrome and early cataract

    PubMed Central

    Haargaard, B; Fledelius, H C

    2006-01-01

    Aims To estimate the occurrence of early cataract among patients with Down's syndrome and to evaluate the clinical characteristics of the cases. Methods Cases with Down's syndrome were ascertained from a cohort of all Danish children between 0 and 17?years of age, who were diagnosed with cataract during the period 1977–2001 (n?=?1027). Information on the patients was obtained from the medical records. Results Of the total of 1027 cases with non?traumatic, non?acquired cataract there were 29 cases (13 males, 16 females) with Down's syndrome (2.8%). This corresponds to an occurrence of early cataract among patients with Down's syndrome of 1.4%; 27 had bilateral cataract and two had unilateral cataract. Half of the patients (n?=?14) underwent cataract surgery, of whom two had bilateral primary lens implantation. 10 patients had bilateral cataract observed soon after birth, and five of these underwent cataract surgery within the first 6?months of life. Conclusion The frequency of early cataract among children with Down's syndrome is estimated to be 1.4%, with cataracts requiring surgery during childhood being even rarer. In one third of the 29 cases, bilateral cataract was detected in the neonatal period. PMID:16672328

  4. Bilateral adrenalectomy in the 21st century: when to use it for hypercortisolism?

    PubMed

    Guerin, Carole; Taieb, David; Treglia, Giorgio; Brue, Thierry; Lacroix, André; Sebag, Frederic; Castinetti, Frederic

    2016-02-01

    Therapeutic options available for the treatment of Cushing's syndrome (CS) have expanded over the last 5 years. For instance, the efficient management of severe hypercortisolism using a combination of fast-acting steroidogenesis inhibitors has been reported. Recent publications on the long-term efficacy of drugs or radiation techniques have also demonstrated low toxicity. These data should encourage endocrinologists to reconsider the place of bilateral adrenalectomy in patients with ACTH-dependent aetiologies of CS; similarly, the indication of bilateral adrenalectomy is reassessed in primary bilateral macronodular adrenal hyperplasia. The objective of this review is to compare the efficacy and side effects of the various therapeutic options of hypercortisolism with those of bilateral adrenalectomy, in order to better define its indications in the 21st century. PMID:26739832

  5. Note: Unshielded bilateral magnetoencephalography system using two-dimensional gradiometers

    NASA Astrophysics Data System (ADS)

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

    2010-09-01

    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.

  6. Moebius syndrome with Dandy-Walker variant and agenesis of corpus callosum

    PubMed Central

    John, Jomol Sara; Vanitha, R.

    2013-01-01

    Moebius syndrome is a rare congenital neurological disorder. The most frequent mode of presentation is facial diplegia with bilateral lateral rectus palsy, but there are variations. Here, we report a rare case of Moebius syndrome in a 15-month-old child with unilateral facial palsy, bilateral abducens nerve palsy with Dandy Walker variant, and complete agenesis of corpus callosum. PMID:24470815

  7. A 19-year-old man with relapsing bilateral pneumothorax, hemoptysis, and intrapulmonary cavitary lesions diagnosed with vascular Ehlers-Danlos syndrome and a novel missense mutation in COL3A1.

    PubMed

    Abrahamsen, Bjørg J; Kulseth, Mari Ann; Paus, Benedicte

    2015-05-01

    A 19-year-old sportsman experienced a right-sided pneumothorax and hemoptysis after having had an intermittent cough and blood-tinged sputum for 2 months. A chest CT scan revealed small cavitary lesions in both lungs. The relapsing pneumothorax was treated with a chest tube twice, as well as surgically after the second relapse. Two months after surgery, the patient developed a cough, fever, and high C-reactive protein levels. At that time, large consolidations had developed in the right lung, while the left lung subsequently collapsed due to pneumothorax. The patient's physical appearance and anamnestic information led us to suspect a genetic connective tissue disease. A sequencing analysis of the COL3A1 gene identified a novel, de novo missense mutation that confirmed the diagnosis of vascular Ehlers-Danlos syndrome (EDS). This atypical presentation of vascular EDS with intrathoracic complications shows that enhanced awareness is required and demonstrates the usefulness of the genetic analyses that are clinically available for several hereditary connective tissue disorders. PMID:25940258

  8. Extrapyramidal syndrome

    PubMed Central

    Panda, Akhila Kumar; Bala, Kiran; Bhirud, Lomesh

    2014-01-01

    Organophosphate (OP) poisoning is a common occurrence in the rural areas of developing countries like India. Acute cholinergic crisis is one of the important causes of mortality related to OP poisoning. Delayed peripheral neuropathy, extrapyramidal syndromes and neuropsychiatric manifestations are the major consequences of secondary neuronal damage. This case illustrates a 14-year-old girl who ingested 50?mL of OP pesticide and developed extrapyramidal symptoms in the form of parkinsonism and hand dystonia in spite of immediate medical attention. MRI of the brain with T2, fluid attenuated inversion recovery and diffusion-weighted sequences revealed bilateral symmetrical basal ganglia hyperintensities. Further follow-up revealed a significant clinical improvement with marked resolutions of the brain lesions. The reversible extrapyramidal symptoms with disappearance of neuroimaging findings without neuropathy or neuropsychiatric manifestations are unusual in OP poisoning. PMID:24398867

  9. Pneumomediastinum and bilateral pneumothorax following near drowning in shallow water

    PubMed Central

    Govindaraj, Santhiya; Viswanathan, Stalin

    2011-01-01

    We report pneumomediastinum, bilateral pneumothorax and acute respiratory distress syndrome in a victim of near drowning who was intoxicated and did not have thoracic or neck trauma. Chest radiograph revealed the above findings, later confirmed by computed tomography. He was in shock and also had gastrointestinal (GI) bleeding and renal dysfunction. With adequate resuscitative measures including fluids, blood transfusions, intercostal tube drainage and mechanical ventilation he made a complete recovery. Good prognostic indicators in near drowning patients include higher Glasgow Coma Scale, short submersion time and quick resuscitative measures even in the presence of serious cardiorespiratory or hemodynamic compromise. PMID:24765331

  10. Bilateral hippocampal stroke secondary to acute cocaine intoxication

    PubMed Central

    Connelly, Kathryn L.; Chen, Xiao; Kwan, Pei Fun

    2015-01-01

    Hippocampal infarction is a rare complication of cocaine use, with only two cases previously reporting this association. We present a 44-year-old male who developed a persistent amnesic syndrome following cocaine intoxication. Examination identified no other neurological deficits. Subsequent MRI brain revealed high FLAIR signals and diffusion restriction in the hippocampus and centrum semiovale bilaterally, consistent with infarction. These findings were in keeping with the results of formal neuropsychological testing where deficits in both verbal and visual episodic memory and learning capacity were identified, consistent with hippocampal dysfunction. In contrast to previous reports, this presentation occurred in the absence of other vascular risk factors or hypoxic insults. PMID:26634127

  11. Selective cognitive patterns resulting from bilateral hippocampal ischemia

    PubMed Central

    Cachia, David; Swearer, Joan; Ferguson, Warren; Moonis, Majaz

    2011-01-01

    A 54-year-old diabetic, hypertensive man with poorly controlled moderate-severe sleep apnea presented with acute onset of severe anterograde amnesia and well preserved remote memory without additional cognitive impairment. Investigations, including a lumbar puncture, electroencephalogram (EEG) and serology testing ruled out infectious, neoplastic and epilleptogenic causes. MRI taken 10 days after symptom onset, was suggestive of sequential ischemic damage to both hippocampal formations. Neuropyschological evaluation suggested a focal and dense amnestic syndrome with little improvement over time. The bilateral nature of hippocampal ischemia though has been reported, is rare. PMID:22291752

  12. Common and uncommon bilateral adult renal masses

    PubMed Central

    Roy, Anjali; Silverman, Paul M.; Kundra, Vikas

    2012-01-01

    Abstract Masses can involve the kidney unilaterally or bilaterally. The purpose of this article is to review common and uncommon adult renal masses that present bilaterally. Clinical and imaging findings are described. Renal masses that present in a bilateral fashion can have particular clinical and imaging characteristics and knowledge of their presentation enables appropriate diagnosis and management, especially in a multidisciplinary care setting. More commonly found bilateral renal masses that are discussed include metastasis, lymphoproliferative disorders, adult polycystic kidney disease, angiomyolipomas, renal infracts and renal abscesses. Less common bilateral renal masses include transitional cell carcinoma, oncocytoma, and hematomas. PMID:22750134

  13. Bilateral Ureteral Obstruction in Children after Appendectomy

    PubMed Central

    Grande, M.; Lisi, G.; Bianchi, D.; Bove, P.; Miano, R.; Esser, A.; De Sanctis, F.; Neri, A.; Grande, S.; Villa, M.

    2015-01-01

    Acute renal failure due to bilateral ureteral obstruction is a rare complication after appendectomy in children. We report a case of bilateral ureteric obstruction in a 14-year-old boy nine days after surgery for an acute appendicitis. After saline-filling of the urinary bladder, transabdominal ultrasound demonstrated bilateral hydronephrosis of moderate degree. No abscess was found with CT but presence of millimetric stones on both distal ureters was shown, with bilateral calyceal dilatation. Cystoscopy revealed inflammatory changes in the bladder base. Following introduction of bilateral ureteric stents, there was rapid normalisation of urinary output and serum creatinine. PMID:26295001

  14. Bilateral Crossed "Unfused" Renal Ectopia.

    PubMed

    Gambhir, Aashish; James, Vivek M; Kumar, Amit; Jaimini, Abhinav; Mondal, Anupam

    2015-10-01

    Ectopic kidney-uncrossed or crossed, or with and without fusion-is a common congenital developmental anomaly. Commonly employed imaging modalities used for evaluating such condition include ultrasonography, IV pyelography, and contrast-enhanced CT scan. Here in, we describe a rare case report of an incidentally detected bilateral crossed renal ectopia without fusion on Tc-DTPA scan in the setting of inconclusive ultrasonography and deranged renal function. PMID:26204207

  15. Compensation following bilateral vestibular damage.

    PubMed

    McCall, Andrew A; Yates, Bill J

    2011-01-01

    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

  16. Giant Bilateral Adrenal Myelolipoma with Congenital Adrenal Hyperplasia

    PubMed Central

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

    2014-01-01

    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

  17. Giant bilateral adrenal myelolipoma with congenital adrenal hyperplasia.

    PubMed

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

    2014-01-01

    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

  18. Metabolic Syndrome

    MedlinePLUS

    ... Your Best Self Smart Snacking Losing Weight Safely Metabolic Syndrome KidsHealth > Teens > Diabetes Center > Treatment & Prevention > Metabolic Syndrome ... applies to a condition known as metabolic syndrome. Metabolic Syndrome Is an Early Warning Sign Metabolic syndrome isn' ...

  19. [Therapeutic approach to bilateral hepatoblastoma].

    PubMed

    Babut, J M; Le Gall, E; Bourdelat, D; Jouan, H; Gruel, Y

    1983-01-01

    The treatment of a case of bilateral hepatoblastoma by continuous infusion of adriamycin in the hepatic artery accompanied by ligature of the right hepatic artery enabled the authors to carry out six weeks later an extensive right lobe hepatectomy. Unfortunately the patient died seven weeks after the partial hepatectomy from complication of surgery. Thus it was possible to demonstrate the effectiveness of the intra arterial chemotherapy. No residual tumor could be found at autopsy. As in the case with the adult, arterial ligature combined with carefully targeted chemotherapy would seem to be potentially important therapeutic option in the treatment of malignant liver tumors in children. PMID:6303615

  20. [Bilateral chylothorax after gastric surgery].

    PubMed

    Medina, E; Anguiano, M P; Agudo, O; Lobo, J; Tihista, J A; Alonso, I; Calvo, A

    2005-01-01

    Chylothorax is a lymphatic effusion of chylous in the pleural space due to thoracic duct obstruction or injury. The most frequent aetiology is cancer; it is also related to chest trauma and iatrogenic. We describe the case of bilateral chylothorax in a 76-year-old woman, right predominant, during the post-operational phase of gastric surgery. This presented itself with respiratory insufficiency and tachycardia without initial haemodynamic compromise. It presented a favourable evolution after conservative treatment, cessation of oral intake and TPN and chest tube during 10 to 14 days. PMID:16421622

  1. An evaluation of surgical outcome of bilateral cleft lip surgery using a modified Millard’s (Fork Flap) technique

    PubMed Central

    Adeyemo, W. L.; James, O.; Adeyemi, M. O.; Ogunlewe, M. O.; Ladeinde, A. L.; Butali, A.; Taiwo, O. A.; Emeka, C. I.; Ayodele, A. O. S; Ugwumba, C. U.

    2014-01-01

    Background The central third of the face is distorted by the bilateral cleft of the lip and palate and restoring the normal facial form is one of the primary goals for the reconstructive surgeons. The history of bilateral cleft lip repair has evolved from discarding the premaxilla and prolabium and approximating the lateral lip elements to a definitive lip and primary cleft nasal repair utilising the underlying musculature. The aim of this study was to review surgical outcome of bilateral cleft lip surgery (BCLS) done at the Lagos University Teaching Hospital. Materials and Methods A review of all cases of BCLS done between January 2007 and December 2012 at the Lagos University Teaching Hospital was done. Data analysis included age and sex of patients, type of cleft deformity and type of surgery (primary or secondary) and whether the cleft deformity was syndromic and non-syndromic. Techniques of repair, surgical outcome and complications were also recorded. Results A total of 39 cases of BCLS involving 21 males and 18 females were done during the period. This constituted 10% (39/390) of all cases of cleft surgery done during the period. There were 5 syndromic and 34 non-syndromic cases. Age of patients at time of surgery ranged between 3 months and 32 years. There were 24 bilateral cleft lip and palate deformities and 15 bilateral cleft lip deformities. Thirty-one of the cases were primary surgery, while 8 were secondary (revision) surgery. The most common surgical technique employed was modified Fork flap (Millard) technique, which was employed in 37 (95%) cases. Conclusion Bilateral cleft lip deformity is a common cleft deformity seen in clinical practice, surgical repair of which can be a challenge to an experienced surgeon. A modified Fork flap for repair of bilateral cleft lip is a reliable and versatile technique associated with excellent surgical outcome. PMID:24469478

  2. Unusual Bilateral Paramolars Associated with Clinical Complications

    PubMed Central

    Sulabha, A. N.; Sameer, C.

    2015-01-01

    Paramolars are rare supernumerary structures of maxillofacial complex that occur buccally or lingually near the molar row. Predominantly these occur singly; bilateral presentation is very rare. This paper reports two unusual bilateral presentations of paramolars with clinical complication and its management. One of the cases in the present paper also documents the cooccurrence of bilateral paramolars and microdontia of single tooth and one of its paramolars presented with multilobed crown with an anomalous buccal tubercle. PMID:26078890

  3. Bilateral internal thoracic artery grafting

    PubMed Central

    2013-01-01

    The effectiveness of the left internal mammary artery graft to the anterior descending coronary artery as a surgical strategy has been shown to improve the survival rate and decrease the risk of adverse cardiac events in patients undergoing coronary bypass surgery. These clinical benefits appear to be related to the superior short and long-term patency rates of the internal thoracic artery graft. Although the advantages of using of both internal thoracic arteries (ITA) for bypass grafting have taken longer to prove, recent results from multiple data sets now support these findings. The major advantage of bilateral ITA grafting appears to be improved survival rate, while the disadvantages of complex ITA grafting include the increased complexity of operation, and an increased risk of wound complications. While these short-term disadvantages have been mitigated in contemporary surgical practice, they have not eliminated. Bilateral ITA grafting should be considered the procedure of choice for patients undergoing coronary bypass surgery that have a predicted survival rate of longer than ten years. PMID:23977627

  4. [Massive bilateral adrenal hemorrhage: role of imaging].

    PubMed

    Kably, M I; Zamiati, W; Benkirane, H; Kadiri, R

    2004-05-01

    Bilateral adrenal hemorrhage is a rare and potentially life threatening situation in adults. The clinical presentation is non-specific, and the diagnosis is based on imaging. The purpose of this report is to provide an illustrative case of spontaneous bilateral adrenal hemorrhage that occurred during pregnancy. The sonographic and computed tomographic findings included large bilateral adrenal hematomas with no evidence of underlying malignancy. Since bilateral adrenal hemorrhage is a rare but potentially life threatening situation, prompt laboratory and imaging evaluation are essential and may reduce both morbidity and mortality. PMID:15205660

  5. A Rare Entity: Bilateral First Rib Fractures Accompanying Bilateral Scapular Fractures

    PubMed Central

    Gulbahar, Gultekin; Kaplan, Tevfik; Turker, Hasan Bozkurt; Gundogdu, Ahmet Gokhan; Han, Serdar

    2015-01-01

    First rib fractures are scarce due to their well-protected anatomic locations. Bilateral first rib fractures accompanying bilateral scapular fractures are very rare, although they may be together with scapular and clavicular fractures. According to our knowledge, no case of bilateral first rib fractures accompanying bilateral scapular fractures has been reported, so we herein discussed the diagnosis, treatment, and complications of bone fractures due to thoracic trauma in bias of this rare entity. PMID:26175916

  6. Endourological treatment of bilateral ureteral stones in bilateral ureteral duplication with right ureterocele

    PubMed Central

    Sen, Volkan; Aydogdu, Ozgu; Yonguc, Tar?k; Bozkurt, Ibrahim Halil; Polat, Salih; Basmaci, Ismail

    2015-01-01

    Bilateral collecting system duplication is a very rare abnormality, including the splitting of the ureteric bud. Complete ureteral duplication with two separate openings in the urinary bladder is also extremely rare. To the best of our knowledge, we present the first case of bilateral ureteral stones in bilateral duplicated collecting system. PMID:26279727

  7. CT demonstration of bilateral adrenal hemorrhage

    SciTech Connect

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

    1983-08-01

    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.

  8. Bilateral sporadic aniridia: review of management

    PubMed Central

    Adeoti, Caroline O; Afolabi, Adeyinka A; Ashaye, Adebimpe O; Adeoye, Adenike O

    2010-01-01

    Purpose To report a rare case of bilateral sporadic aniridia in an African child and review the management modalities. Presentation We report a case of bilateral sporadic aniridia with horizontal nystagmus, axial cataract optic disc, and fovea hypoplasia in a 5-year-old female patient. She was managed conservatively. Various modalities of treatment are reviewed. PMID:20957053

  9. Isolation of the Left Subclavian Artery with Right Aortic Arch in Association with Bilateral Ductus Arteriosus and Ventricular Septal Defect

    PubMed Central

    Lee, Ji Seong; Park, Ji Young; Ko, Seong Min; Seo, Dong-Man

    2015-01-01

    Right aortic arch with isolation of the left subclavian artery is a rare anomaly. The incidence of bilateral ductus arteriosus is sporadic, and a right aortic arch with isolation of the left subclavian artery in association with bilateral ductus arteriosus is therefore extremely rare. Since the symptoms and signs of isolation of the left subclavian artery can include the absence or underdevelopment of the left arm, subclavian steal syndrome, or pulmonary artery steal syndrome, the proper therapeutic approach is controversial. We report a case in which surgical reconstruction was used to treat isolation of the left subclavian artery with right aortic arch in association with bilateral ductus arteriosus and a ventricular septal defect. PMID:26665110

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

    E-print Network

    Litovsky, Ruth

    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

  11. Renal dysfunction due to hydronephrosis by SAPHO syndrome: a case report

    PubMed Central

    Kakoki, Katsura; Miyata, Yasuyoshi; Enokizono, Mikako; Uetani, Masataka; Sakai, Hideki

    2015-01-01

    Key Clinical Message Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis (SAPHO) syndrome shows varied pathological symptoms. This is the first report of hydronephrosis due to the mechanical compression of bilateral ureters as a result of SAPHO syndrome. From our experience, MRI is the most useful imaging examination to check the upper urinary tract in SAPHO syndrome. PMID:26331013

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

    PubMed

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

    2013-01-01

    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

  13. Metabolic Syndrome

    MedlinePLUS

    ... Th M e etabolic Syndrome What is the metabolic syndrome? The term metabolic syndrome describes a cluster of risk factors that increase ... high blood sugar). The exact cause of the metabolic syndrome is not known but genetic factors, too much ...

  14. Cushing's Syndrome

    MedlinePLUS

    MENU Return to Web version Cushing's Syndrome Overview What is Cushing's syndrome? Cushing's syndrome occurs when your body is exposed to high levels ... they can cause problems with your eyesight. Diagnosis & Tests How is Cushing's syndrome diagnosed? Your doctor may ...

  15. Two case reports of bilateral adrenal myelolipomas.

    PubMed

    Yang, Yu; Ye, Lin-Yang; Yu, Bo; Guo, Jia-Xiang; Liu, Qian; Chen, Yun

    2015-09-16

    Primary adrenal myelolipoma is a rare, non-functioning adrenal benign tumor that is composed of mature adipose tissue and a variable amount of haemopoietic elements. Clinically, it is difficult to get diagnosed with adrenal myelolipoma because the patient usually doesn't have obvious symptoms and signs in early stage. In the present study, two cases of primary bilateral adrenal myelolipomas are reported. Clinical presentation, imaging diagnostic features, histopathological changes and surgical treatments of the two patients are discussed. Preoperative diagnostic imaging examinations (B-mode ultrasonography, computed tomography and magnetic resonance imaging sans) assisted getting a prediction diagnosis of bilateral adrenal myelolipomas. A two-stage surgery was used to successfully excise bilateral adrenal myelolipomas in the two patients. Conventional open adrenalectomy was applied to remove the adrenal myelolipomas greater than 6 cm, and laparoscopic adrenalectomy was performed to excise the adrenal tumors smaller than 6 cm. Bilateral adrenal myelolipomas of the two patients were finally confirmed by postoperative histopathological examinations. Understanding clinical, imaging diagnostic and histopathological features of bilateral adrenal myelolipomas will facilitate timely diagnosis and treatment of this condition. Surgical removal of bilateral adrenal myelolipomas is safe, curative and beneficial. The two-stage surgery appears to be the best treatment option for the patients with bilateral adrenal myelolipomas because it achieves optimal treatment effectiveness with minimized sequelae. PMID:26380835

  16. Two case reports of bilateral adrenal myelolipomas

    PubMed Central

    Yang, Yu; Ye, Lin-Yang; Yu, Bo; Guo, Jia-Xiang; Liu, Qian; Chen, Yun

    2015-01-01

    Primary adrenal myelolipoma is a rare, non-functioning adrenal benign tumor that is composed of mature adipose tissue and a variable amount of haemopoietic elements. Clinically, it is difficult to get diagnosed with adrenal myelolipoma because the patient usually doesn’t have obvious symptoms and signs in early stage. In the present study, two cases of primary bilateral adrenal myelolipomas are reported. Clinical presentation, imaging diagnostic features, histopathological changes and surgical treatments of the two patients are discussed. Preoperative diagnostic imaging examinations (B-mode ultrasonography, computed tomography and magnetic resonance imaging sans) assisted getting a prediction diagnosis of bilateral adrenal myelolipomas. A two-stage surgery was used to successfully excise bilateral adrenal myelolipomas in the two patients. Conventional open adrenalectomy was applied to remove the adrenal myelolipomas greater than 6 cm, and laparoscopic adrenalectomy was performed to excise the adrenal tumors smaller than 6 cm. Bilateral adrenal myelolipomas of the two patients were finally confirmed by postoperative histopathological examinations. Understanding clinical, imaging diagnostic and histopathological features of bilateral adrenal myelolipomas will facilitate timely diagnosis and treatment of this condition. Surgical removal of bilateral adrenal myelolipomas is safe, curative and beneficial. The two-stage surgery appears to be the best treatment option for the patients with bilateral adrenal myelolipomas because it achieves optimal treatment effectiveness with minimized sequelae. PMID:26380835

  17. Impaired threat prioritisation after selective bilateral amygdala lesions

    PubMed Central

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

    2015-01-01

    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

  18. Fibromuscular Dysplasia Presenting with Bilateral Renal Infarction

    SciTech Connect

    Doody, O.; Adam, W. R.; Foley, P. T.; Lyon, S. M.

    2009-03-15

    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.

  19. Bilateral Tubercular Mastitis - Case Reports.

    PubMed

    Chowdhury, A K; Mubin, S; Yousuf, N A; Rahman, M; Islam, M A; Ahmed, S U

    2015-07-01

    Breast tuberculosis is a rare form of tuberculosis. Moreover the disease is often overlooked and misdiagnosed as carcinoma or pyogenic abscess. Reports on breast tuberculosis have been few; reported incidence of breast tuberculosis amongst the total number of mammary conditions varies between 0.1 and 4 percent. Bilateral involvement is still more uncommon (3%). Here we report 3 cases of adult female ranging from 27 to 35 years who presented with 1 to 4 months history of firm lumps in both breasts and no axillary lymphadenopathy. Fine needle aspiration cytology (FNAC) of breast lump in all 3 cases were done but in 1 case showed evidence of tubercular mastitis and other 2 cases findings were inconclusive. Subsequent Excisional Biopsy of those 2 cases showed features of tuberculosis. All 3 were prescribed with four drug anti-tubercular treatments continued for 12 months in 2 cases and 9 months in other case depending upon their response. The lumps disappeared and ulcer healed after anti-tubercular treatment. PMID:26329964

  20. Bilateral symmetry across Aphrodite Terra

    NASA Technical Reports Server (NTRS)

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

    1987-01-01

    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.

  1. Anterior plagiocephaly in an atypical case of apert syndrome.

    PubMed

    Gupta, Madhumita; Pai, Ashwin Alke; Bhattacharya, Abhimanyu; Ramachandra, Ravi; Sawarappa, Raghavendra; Mohapatra, Subhakanta; Kanoi, Aditya

    2013-06-01

    Apert syndrome is a congenital craniosynostosis syndrome comprising of bilateral coronal synostosis , symmetric syndactyly of hands and feet and midface hypoplasia. We present an atypical phenotype of this syndrome with right sided unilateral coronal synostosis. However, type I apert hand and other clinical and radiological features suggestthe diagnosis. Genetic analysis revealed an absence of the specific missense mutations in the FGFR 2 gene that is found in patients with this syndrome. We conclude that this patient represented a rare atypical variant of Apert syndrome. Further analysis is required to map the associated genotype. PMID:25489515

  2. [Sturge-Weber syndrome].

    PubMed

    Reith, W; Yilmaz, U; Zimmer, A

    2013-12-01

    Sturge-Weber syndrome (SWS) is a rare congenital disease which affects the brain, the skin and the eyes. It is a sporadically occurring neurocutaneous syndrome affecting the intracerebral veins (venous angiomatosis). The frequency is estimated to be 1 in 50,000 births [1]. The main symptom is intracranial leptomeningeal angiomatosis which mostly affects the occipital and posterior parietal lobes and can occur unilaterally and also bilaterally. Facial cutaneous vascular alterations occur ipsilaterally in the form of port wine stains (nevus flammeus) which are normally found in the catchment area of the trigeminal branch VI. Other clinical symptoms associated with SWS are seizures, glaucoma, headaches, transient neurological stroke-like episodes and cognitive impairment. Neurological cortical symptoms often include hemiparesis, hemiatrophy and hemianopsia. PMID:24292369

  3. Hypergraphia: a right hemisphere syndrome.

    PubMed Central

    Yamadori, A; Mori, E; Tabuchi, M; Kudo, Y; Mitani, Y

    1986-01-01

    A new right hemisphere symptom is reported. Five stroke patients with lesions in the perisylvian cortico-subcortical or thalamic region of the right hemisphere produced linguistically correct but semantically loose writing. The behaviour was initiated by subtle prompting and continued semiautomatically. A possible mechanism underlying this hypergraphia is discussed. PMID:3783177

  4. Metabolic Syndrome

    MedlinePLUS

    ... page from the NHLBI on Twitter. What Is Metabolic Syndrome? Metabolic syndrome is the name for a group of risk ... three metabolic risk factors to be diagnosed with metabolic syndrome. A large waistline. This also is called abdominal ...

  5. Metabolic syndrome

    MedlinePLUS

    Metabolic syndrome is a name for a group of risk factors that occur together and increase the chance ... Metabolic syndrome is becoming very common in the United States. Doctors are not sure whether the syndrome is ...

  6. Gardner Syndrome

    MedlinePLUS

    ... Gardner syndrome? Gardner syndrome is a subtype of familial adenomatous polyposis (FAP or classic FAP) , which usually causes benign, ... is linked to Gardner syndrome; APC stands for adenomatous polyposis coli. A mutation, meaning an alteration in the APC ...

  7. Down Syndrome

    MedlinePLUS

    ... NICHD Research Information Clinical Trials Resources and Publications 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 ...

  8. 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? Down syndrome is not contagious , so you can' ...

  9. Cushing's Syndrome

    MedlinePLUS

    ... being done? Clinical Trials Organizations What is Cushing's Syndrome? Cushing's syndrome, also called hypercortisolism , is a rare endocrine ... and cure the disorder. NIH Patient Recruitment for Cushing's Syndrome Clinical Trials At NIH Clinical Center Throughout the ...

  10. 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 ...

  11. 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 ...

  12. Bilateral Retrobulbar Optic Neuritis Caused by Varicella Zoster Virus in a Patient with AIDS

    PubMed Central

    Duda, Jose F.; Castro, Jose G.

    2015-01-01

    Aims To report on a case of bilateral retrobulbar optic neuritis in a patient with acquired immune deficiency syndrome (AIDS) caused by varicella-zoster virus (VZV); and to review the literature focusing on: cases reported, epidemiology, pathophysiology, diagnosis and treatment. Presentation of Case A 38-year-old woman with AIDS presented with a 10-day history of progressive bilateral visual loss and ocular pain. She had bilateral dilated pupils with no light perception; the fundoscopic examination was normal. Facial herpes zoster lesions appeared on the second day of hospitalization Magnetic resonance imaging (MRI) findings were compatible with a bilateral optic neuritis; the cerebrospinal fluid (CSF) showed pleocytosis, increased proteins and a positive VZV-DNA PCR. She was treated with intravenous acyclovir and corticosteroids and was able, when discharged 2 weeks after admission, to carry out activities of daily living. Discussion VZV retrobulbar optic neuritis has previously been reported in 12 patients with AIDS, more than half of the cases had concomitant herpes zoster and an associated retinopathy. A positive VZV-DNA in the CSF is indicative of VZV infection, initial use of intravenous acyclovir is recommended, and the concomitant use of corticosteroids would be a prudent choice; the duration of antiviral therapy remains undefined. Conclusion VZV retrobulbar optic neuritis in AIDS patients can occur with or without herpes zoster. It is a sight-threatening infectious and inflammatory process requiring the advice of specialists in infectious diseases, ophthalmology, neurology and viral microbiology.

  13. Bilateral self-inflicted infectious dacryoadenitis.

    PubMed

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

    2014-12-01

    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

  14. Bilateral Supernumerary Kidney: A Very Rare Presentation

    PubMed Central

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

    2014-01-01

    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. PMID:25780543

  15. Unusual Presentation of Recurrent Pyogenic Bilateral Psoas Abscess Causing Bilateral Pulmonary Embolism by Iliac Vein Compression

    PubMed Central

    Ijaz, Mohsin; Sakam, Sailaja; Ashraf, Umair; Marquez, Jose Gomez

    2015-01-01

    Patient: Male, 47 Final Diagnosis: Bilateral psoas abscess • acute lower extremity deep vein thrombosis • bilateral pulmonary embolism Symptoms: Progressive left leg swelling • productive cough with whitish sputum • right flank pain Medication: Antibiotics and anticoagulation Clinical Procedure: CT-guided percutaneous drain placement Specialty: Internal Medicine/Critical Care Objective: Unusual presentation Background: Psoas abscesses are a known cause of back pain, but they have not been reported as a cause of acute lower extremity thromboses and bilateral pulmonary emboli. We report a patient with bilateral psoas abscesses causing extensive pulmonary emboli through compression of the iliac vein. Case Report: A 47-year-old man presented with bilateral leg swelling over 4 weeks. Physical examination revealed a thin male with bilateral leg swelling, extending to the thigh on his left side. He had hemoglobin of 10.5 g/dl, leukocytosis of 16 000/ml, and an elevated D-dimer. A computed tomography (CT) angiogram of his chest showed extensive bilateral pulmonary emboli and infarcts. He remained febrile with vague flank pain, prompting a CT of his abdomen and pelvis that showed large, multiloculated, septated, bilateral psoas abscesses with compression of the left femoral vein by the left psoas abscess and a thrombus distal to the occlusion. Two liters of pus was drained from the left psoas abscess by CT-guidance, and although the Gram staining showed Gram-positive cocci in clusters, cultures from the abscess and blood were negative. A repeat CT showed resolution of the abscesses, and the drain was removed. He was discharged to a nursing home to complete a course of intravenous antibiotics and anticoagulation. Conclusions: Although the infectious complications of psoas abscesses have been described in the literature, the mechanical complications of bilateral psoas abscesses are lacking. It is important to assess for complete resolution of psoas abscesses through follow-up imaging to prevent venous thromboembolic events. PMID:26356406

  16. Bilateral Simultaneous Disc Edema and Cataract Associated with Albright Hereditary Osteodystrophy

    PubMed Central

    Sengupta, Sabyasachi; Ravindran, Ravilla D.; Kannusamy, Veena; Tamrakar, Varsha

    2012-01-01

    A 16-year-old female presented with poor vision in both eyes. On clinical examination, she had bilateral cataracts and optic disc edema bilaterally on ultrasound examination. Extensive intracranial calcification was evident on computerized tomography. Physical examination revealed short stature, rounded chubby face, dental abnormalities, brachydactyly, and obesity. Laboratory evidence of hypocalcemia, hyperphosphatemia, elevated parathyroid hormone level (indicative of pseudohypoparathyroidism) along with the constellation of phenotypical characteristics lead to a diagnosis of Albright's hereditary osteodystrophy. This case is being presented to increase awareness regarding presence of coexisting and previously undiagnosed hypocalcemic syndromes in pediatric cataracts. The role of an ophthalmologist may be pivotal in diagnosing such an entity as documented in the present case. PMID:22346135

  17. Atraumatic bilateral scapular spine fracture several months after bilateral reverse total shoulder arthroplasty.

    PubMed

    Nicolay, Simon; De Beuckeleer, Luc; Stoffelen, Daniël; Vanhoenacker, Filip; Pouillon, Marc

    2014-05-01

    We report an 89-year-old woman with bilateral atraumatic scapular spine fracture several months after bilateral reverse total shoulder arthroplasty (RTSA). Recently, RTSA has gained popularity in the surgical treatment of complex shoulder disorders such as cuff tear arthropathy. However, scapular fractures may occur several months after surgery as a late complication of this procedure. In this case report we focus on a relatively uncommon subtype, the scapular spine fracture. Although well-known in the orthopedic literature, radiologists are less familiar with this complication. To the best of our knowledge, bilateral scapular fractures have not yet been reported. PMID:24276680

  18. [Two siblings with bilateral congenital knee dislocations: case report].

    PubMed

    Kubinec, V; Polakovi?ová, L; Kantarská, D

    2015-01-01

    Congenital dislocation of the knee and congenital permanent dislocation of the patella are rare disorders usually associated with complex syndromes. Two cases of siblings, girl and boy, who had the same clinical phenotype of this disorder are presented. The diagnosis of Desbuquois dysplasia was made and its autosomal recessive heredity was confirmed by genetic analysis. DNA samples were sent for a molecular genetic analysis of the skeletal dysplasia. The girl was surgically treated for a complete (grade 3) anterior dislocation of the tibia on the femur in the first year of life. Redressing casts had not previously been applied to avoid the risk of damaging the epiphysis. The left knee was operated on by the method, as described by Curtis and Fisher, at the age of six months. The Kirschner wire was removed after one month and a plaster cast was applied to maintain the flexion required. At seven post-operative weeks physiotherapy was started with temporary use of a knee brace. The right knee was managed by a similar procedure at four months after the first surgery. Normal walking was achieved at the age of 21 months. Knee motion was symmetrically restricted, with 5 to 90 degrees of flexion. The boy was first seen at our out-patient department after his sister had achieved full walking ability. He was 10 years old at that time and presented with walking problems due to nearly 30 degrees of bilateral knee contractures. Permanent dislocation of both patellae was treated by the surgical technique described by Stanisavljevic. Revision surgery of the right knee due to patellar lateralization was required two years after the primary surgery; it was performed using the Campbell's technique. A corrective osteotomy of the left proximal tibia because of progressive genu valgum was carried out at four years following the first operation. At the last follow-up, the boy was 16 years old and the knee range of motion bilaterally was 0 to 120 degrees with good alignment of both knees. As a result of surgical treatment the two patients gained ability to walk without problems. Key words: bilateral congenital knee dislocation, patella, Desbuquois dysplasia, siblings, skeletal dysplasia, case report. PMID:26317189

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

    E-print Network

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

    2011-01-01

    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 ...

  20. Bilateral ptosis: an atypical presentation of neurocysticercosis.

    PubMed

    Naphade, Pravin Umakant; Singh, Maneesh Kumar; Garg, Ravindra Kumar; Rai, Dheeraj

    2012-01-01

    Isolated ptosis is a rare presentation of neurocysticercosis (NCC). Here we report the case of a 45-year-old woman who presented with acute onset bilateral symmetrical ptosis with no other neurological deficit. Her imaging revealed a single cystic ring-enhancing lesion with perilesional oedema in the midbrain suggestive of NCC. She responded well to prednisolone. PMID:22843753

  1. Bilateral ptosis: an atypical presentation of neurocysticercosis

    PubMed Central

    Naphade, Pravin Umakant; Singh, Maneesh Kumar; Garg, Ravindra Kumar; Rai, Dheeraj

    2012-01-01

    Isolated ptosis is a rare presentation of neurocysticercosis (NCC). Here we report the case of a 45-year-old woman who presented with acute onset bilateral symmetrical ptosis with no other neurological deficit. Her imaging revealed a single cystic ring-enhancing lesion with perilesional oedema in the midbrain suggestive of NCC. She responded well to prednisolone. PMID:22843753

  2. Why Women Are Choosing Bilateral Mastectomy.

    PubMed

    Jerome-D'Emilia, Bonnie; Suplee, Patricia D; D'Emilia, Ian

    2015-12-01

    The rate of women choosing to have a bilateral mastectomy as a treatment for unilateral breast cancer has increased since the 1990s, particularly among younger women. This article describes a qualitative study that was conducted to explore this decision-making process. PMID:26583641

  3. Computed tomographic findings in bilateral adrenal tuberculosis

    SciTech Connect

    Wilms, G.E.; Baert, A.L.; Kint, E.J.; Pringot, J.H.; Goddeeris, P.G.

    1983-03-01

    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.

  4. Bilateral hindlimb adactyly in an adult cat.

    PubMed

    Barrand, K R; Cornillie, P K L N

    2008-05-01

    Adactyly (terminal transverse hemimelia) is a rare condition in the cat. The clinical and radiographic findings in a one-year-old cat with bilateral hindlimb adactyly are described. The cat was treated conservatively and appeared to cope well with its deformity. PMID:18373539

  5. Bilateral Facial Paralysis Caused by Bilateral Temporal Bone Fracture: A Case Report and a Literature Review

    PubMed Central

    Eliçora, Sultan ?evik; Dinç, Aykut Erdem; Bi?kin, Sultan; Damar, Murat; Bilgin, Ergin

    2015-01-01

    Bilateral facial paralysis caused by bilateral temporal bone fracture is a rare clinical entity, with seven cases reported in the literature to date. In this paper, we describe a 40-year-old male patient with bilateral facial paralysis and hearing loss that developed after an occupational accident. On physical examination, House-Brackmann (HB) facial paralysis of grade 6 was observed on the right side and HB grade 5 paralysis on the left. Upon temporal bone computed tomography (CT) examination, a fracture line exhibiting transverse progression was observed in both petrous temporal bones. Our patient underwent transmastoid facial decompression surgery of the right ear. The patient refused a left-side operation. Such patients require extensive monitoring in intensive care units because the presence of multiple injuries means that facial functions are often very difficult to evaluate. Therefore, delays may ensue in both diagnosis and treatment of bilateral facial paralysis. PMID:26175920

  6. A review of bilateral training for upper extremity hemiparesis.

    PubMed

    Stoykov, Mary Ellen; Corcos, Daniel M

    2009-01-01

    Upper extremity hemiparesis is the most common post-stroke disability. Longitudinal studies have indicated that 30-66% of stroke survivors do not have full arm function 6 months post-stroke. The current gold standard for treatment of mild post-stroke upper limb impairment is constraint-induced therapy but, because of the inclusion criteria, alternative treatments are needed which target more impaired subjects. Bilateral arm training has been investigated as a potential rehabilitation intervention. Bilateral arm training encompasses a number of methods including: (1) bilateral isokinematic training; (2) mirror therapy using bilateral training; (3) device-driven bilateral training; and (4) bilateral motor priming. Neural mechanisms mediating bilateral training are first reviewed. The key bilateral training studies that have demonstrated evidence of efficacy will then be discussed. Finally, conclusions are drawn concerning clinical implications based on the reviewed literature. PMID:19517519

  7. [Syndromes 12. Turner syndrome].

    PubMed

    Verdonck, A; van Erum, R

    1999-07-01

    Turner syndrome is one of the most common chromosomal disorders. The incidence is about 1 on 2,500 till 1 on 10,000 living female young births. Short stature is the most common finding in patients with Turner syndrome. Besides short stature and gonadal dysgenesis, typical craniofacial and dental features are also present. Disturbance of the enchondral ossification results in abnormal craniofacial morphology. Oestrogen medication, to induce their puberty, and recombinant human growth therapy, to improve final height of these patients, are the most common treatment possibilities. It is the intention of this short paper to inform the dentist/orthodontist about the general aspects of the Turner syndrome. This information can be used in their treatment plan. PMID:11930372

  8. Hardware Implementation of a Bilateral Subtraction Filter

    NASA Technical Reports Server (NTRS)

    Huertas, Andres; Watson, Robert; Villalpando, Carlos; Goldberg, Steven

    2009-01-01

    A bilateral subtraction filter has been implemented as a hardware module in the form of a field-programmable gate array (FPGA). In general, a bilateral subtraction filter is a key subsystem of a high-quality stereoscopic machine vision system that utilizes images that are large and/or dense. Bilateral subtraction filters have been implemented in software on general-purpose computers, but the processing speeds attainable in this way even on computers containing the fastest processors are insufficient for real-time applications. The present FPGA bilateral subtraction filter is intended to accelerate processing to real-time speed and to be a prototype of a link in a stereoscopic-machine- vision processing chain, now under development, that would process large and/or dense images in real time and would be implemented in an FPGA. In terms that are necessarily oversimplified for the sake of brevity, a bilateral subtraction filter is a smoothing, edge-preserving filter for suppressing low-frequency noise. The filter operation amounts to replacing the value for each pixel with a weighted average of the values of that pixel and the neighboring pixels in a predefined neighborhood or window (e.g., a 9 9 window). The filter weights depend partly on pixel values and partly on the window size. The present FPGA implementation of a bilateral subtraction filter utilizes a 9 9 window. This implementation was designed to take advantage of the ability to do many of the component computations in parallel pipelines to enable processing of image data at the rate at which they are generated. The filter can be considered to be divided into the following parts (see figure): a) An image pixel pipeline with a 9 9- pixel window generator, b) An array of processing elements; c) An adder tree; d) A smoothing-and-delaying unit; and e) A subtraction unit. After each 9 9 window is created, the affected pixel data are fed to the processing elements. Each processing element is fed the pixel value for its position in the window as well as the pixel value for the central pixel of the window. The absolute difference between these two pixel values is calculated and used as an address in a lookup table. Each processing element has a lookup table, unique for its position in the window, containing the weight coefficients for the Gaussian function for that position. The pixel value is multiplied by the weight, and the outputs of the processing element are the weight and pixel-value weight product. The products and weights are fed to the adder tree. The sum of the products and the sum of the weights are fed to the divider, which computes the sum of products the sum of weights. The output of the divider is denoted the bilateral smoothed image. The smoothing function is a simple weighted average computed over a 3 3 subwindow centered in the 9 9 window. After smoothing, the image is delayed by an additional amount of time needed to match the processing time for computing the bilateral smoothed image. The bilateral smoothed image is then subtracted from the 3 3 smoothed image to produce the final output. The prototype filter as implemented in a commercially available FPGA processes one pixel per clock cycle. Operation at a clock speed of 66 MHz has been demonstrated, and results of a static timing analysis have been interpreted as suggesting that the clock speed could be increased to as much as 100 MHz.

  9. Simultaneous Bilateral Cochlear Implantation in Adults: A Multicenter Clinical Study

    E-print Network

    Litovsky, Ruth

    - neous" bilateral cochlear implantation (both im- plants placed during a single surgical procedure for bilateral listening compared with the unilateral condition when the ear opposite to the side of the noise unilateral ear comparisons for nearly all (32/34) subjects. Bilateral benefit was also found for a few

  10. Asymptomatic bilateral elongated and mineralized stylohyoid complex: report of one case.

    PubMed

    Chaves, Hellíada; Costa, Fábio; Cavalcante, Daniel; Ribeiro, Thyciana; Gondim, Delane

    2013-06-01

    The stylohyoid process is a cylindrical bony structure surrounded by important anatomical structures including vessels and nerves. Calcification and elongation of the stylohyoid ligament complex over 30 mm may be associated with neck and facial pain, known as Eagle's syndrome. However, a bilateral ossified and elongated stylohyoid complex may be devoid of symptoms. We report a 79-year-old symptom-free female who presented on a routine conventional dental radiographic exam an 80.96 mm pseudoarticulated stylohyoid complex in the left side and an 75.85 mm on the other. On CAT scan, both processes were calcified. PMID:24121584

  11. Case report A case of severe hyperkalaemia and compartment syndrome due to

    E-print Network

    Peak, Derek

    Case report A case of severe hyperkalaemia and compartment syndrome due to rhabdomyolysis after of the non-traumatic rhabdomyolysis, which have been related to drug abuse, alcohol, etc. We report on a case of bilateral tibial compartment syndrome, severe hyperkalaemia and rhabdomyolysis after drug abuse. A 35-year

  12. Bilateral staged thoracotomy for multiple lung hydatidosis

    PubMed Central

    2013-01-01

    Background Hydatid cyst disease is still a problem in many countries. Surgical removal is currently the generally accepted choice of treatment for lung hydatidosis. However, operating on bilateral widespread lung hydatidosis is still controversial. The aim of this retrospective study was to evaluate the results of surgical treatment in bilateral multiple hydatid disease of the lung. Methods In this study, we reviewed our experience in the surgical treatment of 17 (3.7%) patients with bilateral, and at least three, lung hydatid cysts. These 17 patients (8 male, 9 female), with an average age of 34.6 years (range 12–58 years), underwent bilateral staged thoracotomy. Results In total 105 lung cysts were removed from 17 patients who underwent staged thoracotomies. The mean count of cysts was 6.7 (range 3–20 cysts). Most of the cysts (38.2%) were located in the right lower lobe. The mean interval between thoracotomies was 4.2 (range 3–5) days. Two patients (11.7%) had cysts associated with hepatic hydatidosis and one (5.8%) had cysts associated with the spleen; they were treated via phrenotomy during thoracotomies. All cysts were removed without lung resection. We observed some complications such as prolonged air leaks (n?=?2), atelectasis (n?=?3) and empyema (n?=?2). No further surgery was required for management of complications. The mean hospital stay was 9.3 days. (range 7–23 days). Oral albendazole was started on the 2nd post operative day after the first thoracotomy in the dose of 10–20 mg/kg and was continued for 3 months with a gap of 1 week after each 21 days. No recurrences or deaths occured during the follow-up period. Conclusions Although staged thoracotomy applied in 3–5 days after the initial thoracotomy increases the total hospital stay, it decreases the chance of possible complications can occur in cysts in the other lung when long intervals are preferred between the first and the second thoracotomy. In our experience, bilateral staged thoracotomy is an appropriate surgical option because morbidity rates are minimal and the hospital stay is acceptable for the treatment of bilateral widespread lung hydatidosis, even in patients who had a total of 20 hydatid cysts. PMID:23641938

  13. Susac syndrome: diverse clinical findings and treatment.

    PubMed

    Bardal, Ricardo Canto; Badaro, Emmerson; Arana, Jayme; Alves, Fabio; Souza, Eduardo Cunha de; Bonomo, Pedro Paulo; Portella, Ezequiel; Maia, Mauricio

    2014-01-01

    We report a case of a 19-year-old woman presenting bilateral neurosensorial hearing loss, mental abnormalities, and loss of visual field in the left eye. Visual acuity was 20/20 in OD and 20/25 in OS. Patient was examined systemically. Audiometry showed sensorineural hearing loss in both ears. The magnetic resonance imaging (MRI) of brain revealed multiple small lesions in the white matter in both cerebral hemispheres and at the corpus callosum. Fundoscopy showed bilateral normal optic disc and sheathing of the arterioles in the middle periphery of OD. Retinal edema and cotton-wool spots were observed. Fluorescein angiography showed bilateral peripheral occlusive arterial vasculopathy. The patient was diagnosed with Susac syndrome and treated with quetiapine fumarate, flunitrazepam, and prednisone, which resulted in stabile outcome. This case shows that a high index of suspicion leading to early recognition and treatment is important to avoid irreversible damage. PMID:25295909

  14. Spared and impaired cognitive abilities after bilateral frontal damage.

    PubMed

    Brazzelli, M; Colombo, N; Della Sala, S; Spinnler, H

    1994-03-01

    We report on a patient (PG) with a severe behavioural disorder following massive bilateral prefrontal damage due to herpetic encephalitis. The lesion involves also the mesial and polar regions of the temporal lobes; the frontal dorso-lateral cortices were relatively spared. The patient's inattentiveness and alternating impulsive and apathetic behaviour led to her social alienation. The only self-motivated activities we observed were those initiated to satisfy her enhanced urge to eat and play games. She did not react to surprise stimuli that consistently elicit a reaction of surprise in healthy people. She also presented "adynamic aphasia" associated with anomia and episodic amnesia. A striking feature of the syndrome was the patient's consistent "utilization behaviour". Her motor behaviour was marked by constant akathisia. She performed surprisingly well on intelligence, "frontal", and visuo-spatial tests. This non-demented patient exhibited a clear dissociation between her relatively spared cognitive abilities and grossly impaired behaviour. In the discussion we explore the extent to which a defect of the supervisory control may be held responsible for the inconsistencies in the patient's coping skill performances. PMID:8004988

  15. Unusual Bilateral Rim Fracture in Femoroacetabular Impingement

    PubMed Central

    Rafols, Claudio; Monckeberg, Juan Edo; Numair, Jorge

    2015-01-01

    This is a report of one case of bilateral acetabular rim fracture in association with femoroacetabular impingement (FAI), which was treated with a hip arthroscopic procedure, performing a partial resection, a labral reinsertion, and a subsequential internal fixation with cannulated screws. Up to date, there are in the literature only two reports of rim fracture and “os acetabuli” in association with FAI. In the case we present, the pincer and cam resection were performed without complications; the technique used was published previously. With this technique the head of the screw lays hidden by the reattached labrum. We removed partially the fractured rim fragment and the internal fixation of the remaining portion was achieved with a screw. In the event of a complete resection of the fragment, it would have ended with a LCE angle of 18° and a high probability of hip instability. We believe that this bilateral case helps establish the efficacy and reproducibility of the technique described by Larson. PMID:25722907

  16. Bilateral idiopathic optic neuritis in pregnancy.

    PubMed

    Liu, Tiffany S; Crow, Robert W

    2013-01-01

    A 33-year-old primiparous woman at 31 weeks gestation with no prior history of ocular disease, autoimmune disease, or recent viral infection presented with rapidly decreasing visual acuity to 20/400 OD and counting fingers OS over 11 days. MRI demonstrated mild bilateral optic nerve enhancement. Humphrey 30-2 visual field testing showed bilateral seco-central scotomas. MR venogram, visual evoked potentials, preeclampsia workup, and serum blood tests for folate, B6, B12, Toxoplasmosis, Bartonella, Lyme disease, ACE levels, RPR, and LFTs were all within normal limits. After one-time treatment of IV 125?mg methylprednisolone and spinal tap, visual acuity improved to 20/20 OD and 20/20 OS. PMID:23305442

  17. Bilateral Orbital Abscesses After Strabismus Surgery.

    PubMed

    Dhrami-Gavazi, Elona; Lee, Winston; Garg, Aakriti; Garibaldi, Daniel C; Leibert, Michelle; Kazim, Michael

    2015-01-01

    Infectious orbital complications after strabismus surgery are rare. Their incidence is estimated to be 1 case per 1,100 surgeries and include preseptal cellulitis, orbital cellulitis, subconjunctival and sub-Tenon's abscesses, myositis, and endophthalmitis. This report describes the case of an otherwise healthy 3-year-old boy who underwent bilateral medial rectus recession and disinsertion of the inferior obliques. A few days after surgery, the patient presented with bilateral periorbital edema and inferotemporal chemosis. A series of CT scans with contrast revealed inferotemporal orbital collections OU. The patient immediately underwent transconjunctival drainage of fibrinous and seropurulent collections in the sub-Tenon's space and experienced rapid improvement a few days later. The patient is reported to be in stable condition in a follow-up examination performed more than a year after the reported events. PMID:24896771

  18. Bilateral granulomatous mastitis with a different etiology.

    PubMed

    Choi, Sung Hyouk; Jang, Ki Seok; Chung, Min Sung

    2015-01-01

    Idiopathic granulomatous mastitis (IGM) and Tuberculosis mastitis (TM) are rare inflammatory diseases of the breast that can clinically mimic malignancy causing misdiagnosis as breast cancer. We present a rare case of bilateral granulomatous mastitis with a different etiology. An initial lesion developed in the right breast was diagnosed as IGM, which was treated with antibiotics and surgery. A subsequent lesion developed in the contralateral breast 5 months later and was diagnosed as TM, which also completely responded to antituberculosis medication without surgical excision. Differential diagnosis was made using the results of the polymerase chain reaction for tuberculosis (TBC-PCR) of both of the breast lesions in addition to typical pathologic findings of IGM in the right breast and an antituberculosis medication response in the left breast. To the best of our knowledge, this is the first case of bilateral granulomatous mastitis with a different etiology. PMID:25519013

  19. Single-incision bilateral laparoscopic oophorectomy

    PubMed Central

    Bhandarkar, Deepraj; Katara, Avinash; Deshmane, Vinay; Mittal, Gaurav; Udwadia, Tehemton E

    2011-01-01

    Although single-incision laparoscopic surgery made an appearance on the surgical scene only recently, it is being increasingly applied in the treatment of a variety of disorders. We report single-incision bilateral laparoscopic oophorectomy and salpingooophorectomy performed in two patients who had previously undergone breast conservation surgery for early breast cancer. Each procedure was undertaken using two 5-mm and one 3-mm ports inserted through a 2-cm transverse supraumbilical incision and standard laparoscopic instruments. The operative time was 50 and 65 min respectively and the blood loss negligible. The patients were discharged 36 and 24 h after surgery, required minimal postoperative analgesia and remain well at a follow up of 19 and 17 months, respectively. With the benefit of improved cosmesis, the single-incision approach holds the potential to replace the traditional bilateral laparoscopic oophorectomy. PMID:21197250

  20. [Bilateral chronic subdural hematoma: spontaneous intracranial hypotension?].

    PubMed

    Augustin, J; Proust, F; Verdure, L; Langlois, O; Freger, P

    2003-03-01

    We report a case of bilateral chronic subdural hematoma (SDH) in a 48-year-old man, who presented with postural headaches, tinnitus and progressive confusion without intoxication, head trauma or abnormal hemostasis. Magnetic resonance imaging revealed cerebellar tonsillar herniation in the foramen magnum and a deformation of the brainstem. Outcome was normal after surgery. We discuss about the rare causes of SDH in young adults. PMID:12736581

  1. Idiopathic Bilateral External Jugular Vein Thrombosis

    PubMed Central

    Hindi, Zakaria; Fadel, Ehab

    2015-01-01

    Patient: Male, 21 Final Diagnosis: Idiopathic bilateral external jugular vein thrombosis Symptoms: Face engorgement • neck swelling Medication: — Clinical Procedure: None Specialty: Hematology Objective: Unknown ethiology Background: Vein thrombosis is mainly determined by 3 factors, which constitute a triad called Virchow’s triad: hypercoagulability, stasis, and endothelial injury. Venous thrombosis commonly occurs in the lower extremities since most of the blood resides there and flows against gravity. The veins of the lower extremities are dependent on intact valves and fully functional leg muscles. However, in case of valvular incompetency or muscular weakness, thrombosis and blood stasis will occur as a result. In contrast, the veins of the neck, specially the jugulars, have distensible walls which allow flexibility during respiration. In addition, the blood directly flows downward towards the heart. Nevertheless, many case reports mentioned the thrombosis of internal jugular veins and external jugular veins with identified risk factors. Jugular vein thrombosis has previously been associated in the literature with a variety of medical conditions, including malignancy. Case Report: This report is of a case of idiopathic bilateral external jugular vein thrombosis in a 21 year-old male construction worker of Southeast Asian origin with no previous medical history who presented with bilateral facial puffiness of gradual onset over 1 month. Doppler ultrasound and computed tomography were used in the diagnosis. Further work-up showed no evidence of infection or neoplasia. The patient was eventually discharged on warfarin. The patient was assessed after 6 months and his symptoms had resolved completely. Conclusions: Bilateral idiopathic external jugular veins thrombosis is extremely rare and can be an indicator of early malignancy or hidden infection. While previous reports in the literature have associated jugular vein thrombosis with malignancy, the present case shows that external jugular vein thrombosis can also be found in persons without malignancy. PMID:26301793

  2. Bilateral pregnancy luteoma: a case report.

    PubMed

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

    2014-09-01

    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

  3. A rare case of bilateral aspergillus endophthalmitis

    PubMed Central

    Gupta, Saurabh; Loudill, Cameron; Tammara, Anita; Chow, Robert T.

    2015-01-01

    Aspergillus endophthalmitis is a devastating inflammatory condition of the intraocular cavities that may result in irreparable loss of vision and rapid destruction of the eye. Almost all cases in the literature have shown an identified source causing aspergillus endophthalmitis as a result of direct extension of disease. We present a rare case of bilateral aspergillus endophthalmitis. A 72-year-old woman with a history of diabetes mellitus, congenital Hirschsprung disease, and recent culture-positive candida pyelonephritis with hydronephrosis status post-surgical stent placement presented with difficulty opening her eyes. She complained of decreased vision (20/200) with pain and redness in both eyes – right worse then left. Examination demonstrated multiple white fungal balls in both retinas consistent with bilateral fungal endophthalmitis. Bilateral vitreous taps for cultures and staining were performed. Patient was given intravitreal injections of amphotericin B, vancomycin, ceftazidime, and started on oral fluconazole. Patient was scheduled for vitrectomy to decrease organism burden and to remove loculated areas of infection that would not respond to systemic antifungal agents. Four weeks after initial presentation, the fungal cultures revealed mold growth consistent with aspergillus. Patient was subsequently started on voriconazole and fluconazole was discontinued due to poor efficacy against aspergillus. Further workup was conducted to evaluate for the source of infection and seeding. Transthoracic cardiogram was unremarkable for any vegetation or valvular abnormalities. MRI of the orbits and sinuses did not reveal any mass lesions or bony destruction. CT of the chest was unremarkable for infection. Aspergillus endophthalmitis may occur because of one of these several mechanisms: hematogenous dissemination, direct inoculation by trauma, and contamination during surgery. Our patient's cause of bilateral endophthalmitis was through an unknown iatrogenic seed. PMID:26653687

  4. Multilateral, regional and bilateral energy trade governance

    SciTech Connect

    Leal-Arcas, Rafael; Grasso, Costantino; Rios, Juan Alemany )

    2014-12-01

    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.

  5. High Performance, Three-Dimensional Bilateral Filtering

    SciTech Connect

    Bethel, E. Wes

    2008-06-05

    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.

  6. Becker's Nevus Syndrome.

    PubMed

    Dasegowda, Sathyanarayana B; Basavaraj, Gb; Nischal, Kc; Swaroop, Mr; Umashankar, Np; Swamy, Suchetha S

    2014-07-01

    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

  7. Cat eye syndrome.

    PubMed

    Sharma, Deepak; Murki, Srinivas; Pratap, Tejo; Vasikarla, Madhavi

    2014-01-01

    A full-term female baby, a product of non-consanguineous marriage, was born at 37?weeks of gestation with a birth weight of 2.08?kg. Antenatal scan at 31?weeks revealed complex congenital heart disease with a hypoplastic right ventricle, pulmonary atresia and an intact septum. Immediately after birth, the infant was shifted to the nursery and was started on intravenous fluids and infusion prostaglandin E1 (Alprostidil). On examination, she had microcephaly, periorbital puffiness, a long philtrum, a broad nasal bridge and retrognathia, up slanting palpebral fissures, widely spaced nipples, a sacral dimple and right upper limb postaxial polydactyly. Postnatal echocardiography confirmed a large ostium secundum atrial septal defect with left to right shunt, right ventricle hypoplasia, pulmonary atresia with an intact septum and a large vertical patent ductus arteriosus. Ophthalmological examination showed a bilateral chorioretinal coloboma sparing disc and fovea. Karyotyping showed an extra small marker chromosome suggestive of the Cat eye syndrome. PMID:24842361

  8. Craniofacial Syndrome Descriptions

    MedlinePLUS

    ... brought about by birth defect, disease or trauma. Apert syndrome Carpenter syndrome Carpenter Syndrome belongs to a group ... FAQs CCAkids Blog CCA Web Store Cher Syndromes • Apert syndrome • Carpenter syndrome • Cleft lip and/or palate • Craniosynostosis • ...

  9. Usher Syndrome

    MedlinePLUS

    Usher syndrome is an inherited disease that causes serious hearing loss and retinitis pigmentosa, an eye disorder ... hearing and vision. There are three types of Usher syndrome: People with type I are deaf from ...

  10. Hunter syndrome

    MedlinePLUS

    ... form: Mild to no mental deficiency Both forms: Carpal tunnel syndrome Coarse features of the face Deafness (gets worse ... Airway obstruction Carpal tunnel syndrome Hearing loss that gets worse ... to complete daily living activities Joint stiffness that ...

  11. 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," ...

  12. Rett syndrome

    MedlinePLUS

    Rett syndrome occurs almost always in girls. It may be diagnosed as autism or cerebral palsy. Most Rett syndrome cases are due to a problem in the gene called MECP2. This gene is on the X chromosome. Females ...

  13. Metabolic Syndrome

    MedlinePLUS

    Metabolic syndrome is a group of conditions that put you at risk for heart disease and diabetes. These ... doctors agree on the definition or cause of metabolic syndrome. The cause might be insulin resistance. Insulin is ...

  14. Marfan Syndrome

    MedlinePLUS

    ... syndrome is a condition in which your body's connective tissue is abnormal. Connective tissue helps support all parts of your body. It ... and develops. Marfan syndrome most often affects the connective tissue of the heart and blood vessels, eyes, bones, ...

  15. Cushing syndrome

    MedlinePLUS

    Cushing syndrome is a disorder that occurs when your body has a high level of the hormone cortisol. ... The most common cause of Cushing syndrome is taking too much ... of this type of medicine. Glucocorticoids mimic the action ...

  16. Cushing's Syndrome

    MedlinePLUS

    Cushing's syndrome is a hormonal disorder. The cause is long-term exposure to too much cortisol, a hormone ... cause your body to make too much cortisol. Cushing's syndrome is rare. Some symptoms are Upper body obesity ...

  17. Angelman Syndrome

    MedlinePLUS

    ... heads, jerky movements, protruding tongues, and bouts of laughter." Infants with Angelman syndrome appear normal at birth, ... Is there any treatment? There is no specific therapy for Angelman syndrome. Medical therapy for seizures is ...

  18. Novel neuropathologic findings in the Haddad syndrome

    PubMed Central

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

    2012-01-01

    Haddad syndrome (congenital central hypoventilation syndrome and Hirschsprung's disease) is a rare disorder for which in-depth neuropathologic analysis is lacking. We report the brain findings in a full-term male infant with Haddad syndrome who died at 27 days of life. Bilateral hypoplasia of the superior temporal lobe and gyral anomalies in the frontal cortex were present. Immunohistochemistry with an antibody to tyrosine hydroxylase (noradrenaline synthesis) demonstrated hypoplasia of the locus coeruleus (implicated in chemoreception) and A5 region. Other findings included delayed maturation of the arcuate nucleus (putative human homologue of ventral medullary neurons in animals critical for chemoreception) and aberrant fascicles in the nucleus of the solitary tract. Efforts to determine the putative gene mutation were unsuccessful. This study implicates novel brain findings in Haddad syndrome mimicking those in murine Phox2b null mutants. This case suggests that abnormalities occur in CCHS in a network of sites critical to chemoreception. PMID:19844731

  19. Ascher's syndrome: A rare case report

    PubMed Central

    Chandravanshi, Shivcharan Lal; Mishra, Vinay

    2015-01-01

    An 18-year-old Indian girl with upper lip deformity presented with on and off painless swelling of her both upper eyelids for 3 years. Clinical evaluation revealed bilateral blepharochalasis, narrowing of horizontal palpebral fissure, decreased outer intercanthal distance, iris coloboma, cleft soft palate, bifid uvula, sensorineural deafness and double upper lip. Clinical examination of the thyroid, thyroid hormone assay and ultrasonography revealed normal thyroid gland structure and function. Ascher's syndrome was diagnosed. To our knowledge, this is the first reported case of Ascher's syndrome associated with iris coloboma, heterochromia iridum, and narrowing of horizontal palpebral fissure and decreased outer intercanthal distance secondary to lengthening of lateral canthal ligament. PMID:25971175

  20. Management of IRVAN syndrome with observation.

    PubMed

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

    2014-01-01

    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

  1. 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 ...

  2. 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. ...

  3. Velocardiofacial Syndrome

    ERIC Educational Resources Information Center

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

    2009-01-01

    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…

  4. Imaging findings of Gorlin-Goltz syndrome.

    PubMed

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

    2015-01-01

    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

  5. Bilateral adrenal hemorrhage: The unrecognized cause of hemodynamic collapse associated with heparin-induced thrombocytopenia

    PubMed Central

    Rosenberger, Laura H.; Smith, Philip W.; Sawyer, Robert G.; Hanks, John B.; Adams, Reid B.; Hedrick, Traci L.

    2011-01-01

    Objective Heparin-induced thrombocytopenia is a common adverse effect of treatment with heparin resulting in paradoxical thromboses. An immunoglobulin G class “heparin-induced thrombocytopenia antibody” attaches to a heparin—platelet factor 4 protein complex. The antibody then binds to the Fc?IIa receptor on the surface of a platelet, resulting in activation, consumption, and thrombocytopenia in the clinical syndrome of heparin-induced thrombocytopenia. In contradistinction to other drug-induced thrombocytopenias that lead to a risk of hemorrhage, the state of thrombocytopenia in heparin-induced thrombocytopenia leads to an acquired hypercoagulability syndrome. Bilateral adrenal hemorrhage associated with heparin-induced thrombocytopenia has become an increasingly documented association. The adrenal gland has a vascular construction that lends itself to venous thrombus in the setting of heparin-induced thrombocytopenia and subsequent arterial hemorrhage. A literature search revealed 17 reported cases of bilateral adrenal hemorrhage in the setting of heparin-induced thrombocytopenia uniformly presenting with complete hemodynamic collapse. Data Sources An Ovid MEDLINE search of the English-language medical literature was conducted, identifying articles describing cases of bilateral adrenal hemorrhage in the setting of heparin-induced thrombocytopenia. Study Selection All cases with this association were included in the review. Data Extraction and Data Synthesis A total of 14 articles were identified, describing 17 individual case reports of bilateral adrenal hemorrhage associated with heparin-induced thrombocytopenia. All cases confirmed known characteristics of heparin-induced thrombocytopenia and uniformly revealed hypotension due to adrenal insufficiency. There were five deaths, resulting in an overall mortality rate of 27.8%, and 100% mortality in the three cases where adrenal insufficiency went unrecognized. Conclusions The secondary complication of adrenal vein thrombosis leading to bilateral adrenal hemorrhage remains insufficiently recognized and undertreated. The nonspecific presentation of adrenal hemorrhage and insufficiency as a complication of heparin-induced thrombocytopenia, coupled with the catastrophic clinical course of untreated adrenal collapse, requires a high index of suspicion to achieve rapid diagnosis and provide life-saving therapy. PMID:21242799

  6. Exophthalmos: A Forgotten Clinical Sign of Cushing's Syndrome.

    PubMed

    Giugni, Aldo Schenone; Mani, Shylaja; Kannan, Subramanian; Hatipoglu, Betul

    2013-01-01

    Exophthalmos is typically associated with Graves' ophthalmopathy. Although originally described by Harvey Cushing, exophthalmos is an underappreciated sign of Cushing's syndrome. We present a case of a 38-year-old female who presented with severe bilateral proptosis and was subsequently diagnosed with Cushings disease. We discuss the possible mechanisms causing exophthalmos in patients with either endogenous or exogenous hypercortisolemia. PMID:23555062

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

    PubMed Central

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

    2013-01-01

    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

  8. Wolfram syndrome maps to distal human chromosome 4p

    SciTech Connect

    Polymeropoulos, M.H.; Swift, R.; Swift, M.

    1994-09-01

    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.

  9. [Autoinflammatory syndrome].

    PubMed

    Ida, Hiroaki; Eguchi, Katsumi

    2009-03-01

    The autoinflammatory syndromes include a group of inherited diseases that are characterized by 1) seemingly unprovoked episodes of systemic inflammations, 2) absence of high titer of autoantibody or auto-reactive T cell, and 3) inborn error of innate immunity. In this article, we will focus on the clinical features, the pathogenesis related the genetic defects, and the therapeutic strategies in the representative disorders including familial Mediterranean fever (FMF), TNF receptor associated periodic syndrome (TRAPS), cryopyrin-associated periodic syndrome (CAPS), hyper-IgD with periodic fever syndrome (HIDS), syndrome of pyogenic arthritis with pyoderma gangrenosum and acne (PAPA), and Blau syndrome. Recent advances in genetics and molecular biology have proceeded our understanding of the pathogenesis of autoinflammatory syndromes. PMID:19280943

  10. Bilateral Wilms' tumors: changing concepts in management

    SciTech Connect

    Laberge, J.M.; Nguyen, L.T.; Homsy, Y.L.; Doody, D.P.

    1987-08-01

    Bilaterality is uncommon in Wilms' tumor, being present in 4% to 8% of the cases. We report the combined experience of two children's hospitals in one city over a 20-year period. We encountered nine cases of synchronous bilateral nephroblastoma (National Wilms' Tumor Study 3, stage V). Age at diagnosis ranged from 9 to 41 months (mean 23 months). There were five girls and four boys. Associated findings include nephroblastomatosis in three cases (33%), one of which also had a familial history; undescended testis in two cases; and minor anomalies in two other cases. Surgical treatment consisted of unilateral nephrectomy with contralateral partial nephrectomy or tumorectomy in six cases, nephrectomy with contralateral biopsy only in two cases, and the other patient had bilateral biopsies initially, followed at a later date by partial nephrectomy on one side. All patients received chemotherapy; actinomycin D (AMD) only was used in the oldest case, vincristine and AMD in five cases, to which was added cyclophosphamide in one case and adriamycin in two. Seven patients received radiation therapy. Seven out of the nine patients survived more than 2 years (77%); five are well, off chemotherapy, with no evidence of disease from 4 to 11 years after diagnosis. Two patients suffered from chronic renal failure and one died from complications after renal transplantation more than 19 years after diagnosis. The two patients who died from their disease presented with more advanced tumor. Therefore, the agressiveness of multimodal therapy can be tailored according to stage and histology, and effective chemotherapy allows maximal preservation of renal parenchyma in patients with stage I and II tumors.

  11. Bilateral discoid medial menisci: a rare phenomenon

    PubMed Central

    Samal, Puspak; Bhagwat, Kishan; Panigrahi, Tapas; Gopinathan, Nirmalraj

    2014-01-01

    Discoid medial meniscus is a relatively rare pathology of the knee joint, with bilateral cases even rarer. Herein, we report the case of a 25-year-old man diagnosed with discoid medial meniscus in the right knee with a horizontal tear. Increased cupping of the medial condyle of the tibia, widening of the medial joint space and the presence of discoid meniscus in the right knee prompted investigation of the asymptomatic left knee with magnetic resonance imaging. The contralateral asymptomatic knee also showed evidence of discoid medial meniscus. The symptomatic knee was successfully treated by arthroscopic partial meniscectomy, with excellent functional outcome. PMID:25273941

  12. Progressive bilateral thinning of the parietal bones

    SciTech Connect

    Cederlund, C.G.; Andren, L.; Olivecrona, H.

    1982-03-01

    Observation of a case of progressive bilateral parietal thinning within a period of 14 years induced us to study skull films of 3 636 consecutive patients. Parietal thinning was found in 86 patients (2.37%). It was more common in women, with a sex ratio of 1:1.9. The mean age of the females was 72 years, and that of the males 63 years. Previous skull films of 25 of these patients were available and showed progression in 10. It is concluded that parietal thinning is a slowly progressive disease of middle-aged and old patients and is not an anatomical variant or congenital dysplasia of the dipole.

  13. Multispectral image denoising with optimized vector bilateral filter.

    PubMed

    Peng, Honghong; Rao, Raghuveer; Dianat, Sohail A

    2014-01-01

    Vector bilateral filtering has been shown to provide good tradeoff between noise removal and edge degradation when applied to multispectral/hyperspectral image denoising. It has also been demonstrated to provide dynamic range enhancement of bands that have impaired signal to noise ratios (SNRs). Typical vector bilateral filtering described in the literature does not use parameters satisfying optimality criteria. We introduce an approach for selection of the parameters of a vector bilateral filter through an optimization procedure rather than by ad hoc means. The approach is based on posing the filtering problem as one of nonlinear estimation and minimization of the Stein's unbiased risk estimate of this nonlinear estimator. Along the way, we provide a plausibility argument through an analytical example as to why vector bilateral filtering outperforms bandwise 2D bilateral filtering in enhancing SNR. Experimental results show that the optimized vector bilateral filter provides improved denoising performance on multispectral images when compared with several other approaches. PMID:24184727

  14. Pediatric bilateral large concurrent thalamic glioblastoma: An unusual case report.

    PubMed

    Pandey, Nityanand; Singh, Pankaj Kumar; Mahapatra, Ashok K; Kakkar, Aanchal; Sharma, Bhawani Shankar

    2014-01-01

    Bilateral thalamic tumors are rare. Pediatric bilateral thalamic glioblastomas are even rarer, only five cases reported in the English literature till date. The clinical presentation, natural history, and prognosis of pediatric thalamic tumors are still relatively obscure. In this article, we report an 8-year-old patient with large bilateral thalamic glioblastomas and briefly discuss its clinical presentation, possible modalities of management, and prognosis, in the light of available literature. PMID:24891914

  15. Adrenal Cortex-Sparing Surgery for Bilateral Multiple Pheochromocytomas in a Patient with Von Hippel-Lindau Disease

    PubMed Central

    Esen, Tar?k; Acar, Ömer; Tefekli, Ahmet; Musao?lu, Ahmet; Rozanes, ?zzet; Emre, Ali

    2012-01-01

    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

  16. Proteus Syndrome: Report of a Case with Developmental Glaucoma

    PubMed Central

    Yuksel, Nursen; Sarman, Hakan; Bayramgurler, Dilek

    2014-01-01

    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

  17. Proteus syndrome: report of a case with developmental glaucoma.

    PubMed

    Sarman, Zuleyha Sik; Yuksel, Nursen; Sarman, Hakan; Bayramgurler, Dilek

    2014-06-01

    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

  18. Hiatus Hernia Repair with Bilateral Oesophageal Fixation

    PubMed Central

    Martin, David

    2015-01-01

    Background. Despite advances in surgical repair of hiatus hernias, there remains a high radiological recurrence rate. We performed a novel technique incorporating bilateral oesophageal fixation and evaluated outcomes, principally symptom improvement and hernia recurrence. Methods. A retrospective study was performed on a prospective database of patients undergoing hiatus hernia repair with bilateral oesophageal fixation. Retrospective and prospective quality of life (QOL), PPI usage, and patient satisfaction data were obtained. Hernia recurrence was assessed by either barium swallow or gastroscopy. Results. 87 patients were identified in the database with a minimum of 3 months followup. There were significant improvements in QOL scores including GERD HRQL (29.13 to 4.38, P < 0.01), Visick (3 to 1), and RSI (17.45 to 5, P < 0.01). PPI usage decreased from a median of daily to none, and there was high patient satisfaction (94%). 57 patients were assessed for recurrence with either gastroscopy or barium swallow, and one patient had evidence of recurrence on barium swallow at 45 months postoperatively. There was an 8% complication rate and no mortality or oesophageal perforation. Conclusions. This study demonstrates that our technique is both safe and effective in symptom control, and our recurrence investigations demonstrate at least short term durability. PMID:26065030

  19. Multifocal bilateral metatarsal tuberculosis: a rare presentation.

    PubMed

    Vijay, Vipul; Sud, Alok; Mehtani, Anil

    2015-01-01

    Tuberculosis, or phthisis (consumption) as it was popularly known in the Greek era, has been endemic in Southeast Asia and Sub-Saharan Africa; however, the human immunodeficiency virus epidemic has seen the re-emergence of this disease in the areas in which it was not very commonly reported. With this, the need for understanding and treatment of rare presentations of tuberculosis has become of paramount importance to achieve the World Health Organization millennium goal of a "reversal of incidence by 2015." Foot involvement has been reported in 0.1% to 0.3% of extrapulmonary cases. Multifocal lesions have an incidence of <10% in osteoarticular tuberculosis. Bilateral feet involvement in multifocal tuberculosis has not yet been reported in either children or adults in published studies. We report a case of tuberculosis with lesions in the bilateral metatarsals, the occurrence of which is very rare. The diagnosis was mainly histopathologic owing to the paucibacillary nature of the disease. Early identification and treatment with antitubercular drugs will normally result in a good cosmetic and functional result. PMID:25441279

  20. Atypical Bilateral Fuchs Uveitis: Diagnostic Challenges

    PubMed Central

    Couto, Cristóbal; Hurtado, Erika; Faingold, Dana; Demetrio, Carmen; Schlaen, Ariel; Zas, Marcelo; Zarate, Jorge; Rosetti, Silvia; de Lima, Andrea Paes; Croxatto, Juan Oscar; Chiaradía, Pablo; Burnier, Miguel N.

    2015-01-01

    Bilateral Fuchs uveitis associated with vitreous infiltration and posterior segment involvement requires a thorough diagnostic evaluation. The lack of well-defined diagnostic criteria makes identification of this entity difficult. The aim of this case report was to present the characteristics of a patient with atypical Fuchs uveitis and the procedures needed to rule out the differential diagnosis with specific attention to the utility of in vivo confocal microscopy (IVCM). Case Report One case of chronic bilateral uveitis with severe vitreous opacities is presented. After extensive systemic workup, including vitrectomy, the case had no identifiable systemic etiology. IVCM of the cornea revealed the presence of dendritiform keratic precipitates. Conclusion The diagnosis of Fuchs uveitis is based on clinical findings as no confirmatory laboratory tests are available. A high index of suspicion is key to an early diagnosis, especially in the cases with vitreous opacities and posterior segment manifestations. Auxiliary tests such as IVCM may aid the clinician in the diagnosis of Fuchs uveitis. PMID:26483668

  1. Influence of unilateral weight on bilateral cyclograms

    NASA Astrophysics Data System (ADS)

    Pellicer Costa, Juan José; Dusza, Jacek J.

    2014-11-01

    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.

  2. Spermatozoa protein alterations in infertile men with bilateral varicocele.

    PubMed

    Agarwal, Ashok; Sharma, Rakesh; Durairajanayagam, Damayanthi; Cui, Zhihong; Ayaz, Ahmet; Gupta, Sajal; Willard, Belinda; Gopalan, Banu; Sabanegh, Edmund

    2016-01-01

    Among infertile men, a diagnosis of unilateral varicocele is made in 90% of varicocele cases and bilateral in the remaining varicocele cases. However, there are reports of under-diagnosis of bilateral varicocele among infertile men and that its prevalence is greater than 10%. In this prospective study, we aimed to examine the differentially expressed proteins (DEP) extracted from spermatozoa cells of patients with bilateral varicocele and fertile donors. Subjects consisted of 17 men diagnosed with bilateral varicocele and 10 proven fertile men as healthy controls. Using the LTQ-orbitrap elite hybrid mass spectrometry system, proteomic analysis was done on pooled samples from 3 patients with bilateral varicocele and 5 fertile men. From these samples, 73 DEP were identified of which 58 proteins were differentially expressed, with 7 proteins unique to the bilateral varicocele group and 8 proteins to the fertile control group. Majority of the DEPs were observed to be associated with metabolic processes, stress responses, oxidoreductase activity, enzyme regulation, and immune system processes. Seven DEP were involved in sperm function such as capacitation, motility, and sperm-zona binding. Proteins TEKT3 and TCP11 were validated by Western blot analysis and may serve as potential biomarkers for bilateral varicocele. In this study, we have demonstrated for the first time the presence of DEP and identified proteins with distinct reproductive functions which are altered in infertile men with bilateral varicocele. Functional proteomic profiling provides insight into the mechanistic implications of bilateral varicocele-associated male infertility. PMID:25999357

  3. Idiopathic Bilateral Adrenal Hemorrhage in a 63-Year-Old Male: A Case Report and Review of the Literature

    PubMed Central

    Bodukam, Vijay Kumar; Thakur, Kshitij; Singh, Amandeep; Jenkins, Donald; Bahl, Jaya

    2015-01-01

    Adrenal hemorrhage is a largely uncommon condition typically caused by a number of factors including infection, MI, CHF, anticoagulants, trauma, surgery, and antiphospholipid syndrome. Yet, idiopathic bilateral hemorrhage is rare. The authors present a case of a 63-year-old male who presented with abdominal pain that was eventually diagnosed as bilateral adrenal hemorrhages due to an unknown origin. Abdominal CT revealed normal adrenal glands without enlargement, but an MRI displayed enlargement due to hemorrhage in both adrenals. There was no known cause; the patient had not suffered from an acute infection and was not on anticoagulants, and the patient's history did not reveal any of the other known causative factors. The case underscores the importance of keeping bilateral adrenal hemorrhages on the list of differentials even when a cause is not immediately clear. It also raises the question of whether CT is the most sensitive test in the diagnosis of adrenal hemorrhage and whether the diagnostic approach should place greater weight on MRI. The case highlights the need for prompt therapy with steroids once bilateral hemorrhage is suspected to avert the development or progression of adrenal insufficiency. PMID:25973281

  4. Outcome study of bilateral lateral rectus recession for intermittent exotropia in children.

    PubMed Central

    Ing, M R; Nishimura, J; Okino, L

    1997-01-01

    PURPOSE: This paper reports an outcome study of 52 consecutive children treated by bilateral lateral rectus recession for intermittent exotropia over a 9 year period (1981-90) with a minimum follow up of 6 months. METHODS: Successful alignment was defined as the absence of any postoperative intermittent or constant tropia in any position of gaze. The study examined the variables that might be predictive of successful alignment. The charts were abstracted for age at initial surgery, quantity of initial deviation, initial refraction, motor alignment at 1 week and 6 months, final alignment, secondary surgery results and the incidence of a monofixation syndrome result. RESULTS: Motor tests demonstrated that 32 (62%) of the patients were successfully aligned by the initial procedure performed for a mean of 25 prism diopters of preoperative deviation while viewing distant targets at a mean age of 4 years 8 months, followed for a mean of 4 years, 4 months. The incidence of undercorrections and overcorrections were approximately equal in quantity suggesting that the current surgical dosage was adequate, but the age at initial surgery, initial deviation, initial refraction and 1 week postoperative alignment results were not predictive of success. Alignment at 6 months, however, was highly correlated with successful alignment by the end of the study (p = 0.002). Secondary surgery was performed for 11 patients and 5 patients were found to have a monofixation syndrome result. CONCLUSION: Successful alignment was achieved in the majority of children treated for intermittent exotropia by an initial bilateral lateral rectus recession. However, 20% of the patients received secondary surgery for a residual deviation, and the study confirmed a previously reported 10% incidence of monofixation syndrome result in children surgically treated for this type of strabismus. PMID:9440183

  5. [Autoinflammatory syndromes].

    PubMed

    Lamprecht, P; Gross, W L

    2009-06-01

    In its strict sense, the term "autoinflammatory syndromes" comprises the hereditary periodic fever syndromes (HPF), which are caused by mutations of pattern-recognition receptors (PRR) and perturbations of the cytokine balance. These include the crypyrinopathies, familial Mediterranean fever, TNF-receptor associated periodic fever syndrome (TRAPS), hyper-IgD and periodic syndrome (HIDS), pyogenic sterile arthritis, pyoderma gangrenosum and acne (PAPA) syndrome, NALP12-HPF, and the Blau syndrome. The diseases are characterized by spontaneous activation of cells of the innate immunity in the absence of ligands. Autoantibodies are usually not found. HPF clinically present with recurrent fever episodes and inflammation, especially of serosal and synovial interfaces and the skin. Intriguingly, PRR-mediated autoinflammtory mechanisms also play a role in a number of chronic inflammatory and autoimmune diseases. PMID:19434382

  6. Impaired Sertoli cell function in males diagnosed with Noonan syndrome.

    PubMed

    Marcus, K A; Sweep, C G J; van der Burgt, I; Noordam, C

    2008-11-01

    In order to study male gonadal function in Noonan syndrome, clinical and laboratory data, including inhibin B, were gathered in nine pubertal males diagnosed with Noonan syndrome. Bilateral testicular maldescent was observed in four, and unilateral cryptorchidism occurred in two. Puberty was delayed in three patients. Luteinising hormone (LH) levels were normal in all patients in our series, while follicle stimulating hormone (FSH) levels were raised in seven. Inhibin B was low in six males and just above the lower limit of normal in two. Importantly, all three men with normal testicular descent displayed signs of Sertoli cell dysfunction, indicating, in contrast to earlier reports, that bilateral cryptorchidism does not seem to be the main contributing factor to impairment of testicular function in Noonan syndrome. These findings suggest different mechanisms of disturbance in male gonadal function, which is frequently associated with Sertoli dysfunction. PMID:19189703

  7. Intracranial Volume in 15 Children with Bilateral Coronal Craniosynostosis

    PubMed Central

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

    2014-01-01

    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

  8. Acquired retinal pigmentary degeneration in a child with 13q deletion syndrome.

    PubMed

    Aguilera, Zenia P; Belin, Peter J; Cavuoto, Kara M; Jayakar, Parul; McKeown, Craig A

    2015-10-01

    Orbeli syndrome, or 13q deletion syndrome, is a rare condition caused by a distal deletion in the long arm of chromosome 13. The syndrome is characterized by severe physical malformations and developmental delays and has been associated with numerous ocular manifestations. We report the case of a 10-year-old boy with 13q deletion syndrome, who was evaluated for impaired vision and found to have bilateral retinal pigmentary changes resembling those seen in retinitis pigmentosa. There has only been one other case of retinal pigment variation in association with 13q deletion syndrome; however, this represents the first case of bilateral symmetric retinal pigmentary changes with corresponding rod and cone dysfunction on electroretinography. PMID:26486039

  9. Why Metabolic Syndrome Matters

    MedlinePLUS

    ... High Blood Pressure Tools & Resources Stroke More Why Metabolic Syndrome Matters Updated:Jul 24,2014 Metabolic syndrome may ... Diabetes High Blood Pressure My Life Check Heart360® Metabolic Syndrome • Home • About Metabolic Syndrome • Why Metabolic Syndrome Matters • ...

  10. Moebius syndrome and narcolepsy: A case dissertation?

    PubMed Central

    Sabaneeff, Lídia; Mendes Motta, Henrique; Castro, Juliana; Tufik, Sergio; Santos Coelho, Fernando Morgadinho

    2014-01-01

    Moebius syndrome (MS) is a congenital syndrome characterized by unilateral or bilateral aplasia of the VI and VII cranial nerves, with consequent convergent strabismus and bilateral peripheral facial paralysis. This syndrome might be associated with diurnal excessive sleepiness and muscular hypotony, mimetizing in this manner, narcolepsy. The diagnostic criteria for narcolepsy depend on the presence of REM sleep during the day. As with patients with MS we do not have ocular movements due to the VI nerve paralysis, the absence of horizontal ocular movements might make it difficult to confirm narcolepsy in these patients. The common clinical characteristics of these patients are due to a possible impairment of the same structures that are affected in the central nervous system. However, the mechanism by which it occurs remains to be fully understood. Further electrophysiological researches are necessary to better clarify the association of these two diseases. The objective of this dissertation is to describe and discuss a case of Moebius syndrome with diurnal excessive sleepiness as a differential diagnosis for narcolepsy. PMID:26483899

  11. Interocular symmetry analysis of bilateral eyes.

    PubMed

    Li, Yi; Bao, Fang Jun

    2014-05-01

    The purpose of this study was to evaluate the interocular symmetry of several biometric parameters between both eyes. The symmetry between the right and left eye of 397 subjects in 14 biometric parameters, spherical equivalent of refractive error (SE), Jackson crossed cylinder power of refractive error astigmatism with axes at 90° and 180° (RJ0) and at 45° and 135° (RJ45), best-corrected visual acuity (BCVA), average corneal curvature (CC), Jackson crossed cylinder power of corneal astigmatism (CJ0 and CJ45), corneal asphericity coefficient (Q), intraocular pressure (IOP), central corneal thickness (CCT), axial length (AL), anterior chamber depth (ACD), lens thickness (LT) and vitreous chamber depth (VCD), was assessed by comparative data analysis. Aside from RJ0 (p?=?0.00), RJ45 (p?=?0.02) and Q (p?=?0.00), the overall interocular differences of other biometric parameters between fellow eyes were not significant (p?>?0.05). The interocular correlation and Bland-Altman plots showed a good agreement between fellow eyes in 14 biometric parameters. Correlations between interocular differences in SE and that in RJ0 (p?=?0.03), CC (p?=?0.00), AL (p?=?0.00) and VCD (p?=?0.00) were statistically significant. There were similar strong linear relationships between refractive error astigmatism vectors and corneal astigmatism vectors in bilateral eyes. There were negative correlations of RJ45 and CJ45 between bilateral eyes. A potentially clinically important interocular symmetry in SE, BCVA, CC, CJ0, CJ45, IOP, CCT, AL, ACD, LT and VCD is found in this research, while the differences of RJ0, RJ45 and Q between left and right eyes seem a bit large. The negative interocular relationships of RJ45 and CJ45 demonstrate moderate mirror symmetry exists among fellow eyes. High interocular symmetry in bilateral eyes may be helpful in intraocular lens power calculation, intraocular pressure evaluation, post-operative visual acuity and refraction prediction at the time the fellow eye is undergoing refractive surgery. PMID:24734876

  12. Interstitial Keratitis, Vertigo, and Vasculitis: Typical Cogan's Syndrome.

    PubMed

    Azami, Ahad; Maleki, Nasrollah; Kalantar Hormozi, Mohammadreza; Tavosi, Zahra

    2014-01-01

    Cogan's syndrome (CS) is a chronic inflammatory disorder of unknown etiology that most commonly affects young adults. Clinical hallmarks are bilateral interstitial keratitis and vestibuloauditory dysfunction. Association between CS and systemic vasculitis as well as aortitis also exists. The diagnosis of CS is based upon presence of characteristic inflammatory eye disease and vestibuloauditory dysfunction. We describe classic Cogan's syndrome in a 47-year-old female from Ardabil. The patient was admitted with headache, vertigo, nausea, vomiting, right leg claudication, musculoskeletal pains, bilateral hearing loss, and blindness for the past two months. Ophthalmologic examination revealed that visual acuity was 0.1 bilaterally. Conjunctival hyperemia, bilateral cataract, and interstitial keratitis were detected with a slit lamp examination. Pure tone audiogram (PTA) and auditory brain stem response (ABR) showed bilateral sensorineural hearing loss. The other differential diagnosis of CS was studied and ruled out. Pulse i.v. methylprednisolone and cyclophosphamide were given and were followed by oral prednisolone and cyclophosphamide. Clinical follow-up showed partial improvement. PMID:24715922

  13. Bilateral pigmented villonodular synovitis of the knee

    PubMed Central

    Shah, Samir H.; Porrino, Jack A.; Green, John R.; Chew, Felix S.

    2015-01-01

    Pigmented villonodular synovitis is a disorder resulting in a villous, nodular, or villonodular proliferation of the synovium, with pigmentation related to the presence of hemosiderin. These lesions are almost exclusively benign with rare reports of malignancy. Pigmented villonodular synovitis can occur in a variety of joints and at any age but most often occurs within the knee in the young adult. Pigmented villonodular synovitis is a rare disease entity, and bilateral synchronous or metachronous involvement of a joint is even more uncommon, with few reports previously described in the literature. We present a case of pigmented villonodular synovitis involving both the right and left knee in the same patient, with radiographic imaging, magnetic resonance imaging, photograph and video intraoperative imaging, and pathologic correlation.

  14. Tuberculosis of bilateral first costotransverse joints.

    PubMed

    Gupta, Mayank; Jain, Vijay Kumar; Naik, Ananta Kumar; Arya, Rajendera Kumar

    2013-01-01

    Involvement of posterior spine constitutes to 1-6% of the cases of spinal tuberculosis (TB). To the best of our knowledge, TB of costotransverse joints has only been reported once in the literature. The purpose of this study is to describe a case of TB arthritis of costotransverse joints. A 22-year-old immunocompetent patient presented with a 3-month history of pain in the neck and upper back along with a swelling on the left side of the base of the neck. On performing an MRI of the cervicodorsal spine, there was evidence of destructive collections at the bilateral first and right-sided second costotransverse joints. The patient was diagnosed as a case of tubercular pathology and was managed successfully with antitubercular chemotherapy. PMID:23907973

  15. An Unusual Case of Bilateral Granulomatous Mastitis

    PubMed Central

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

    2013-01-01

    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

  16. Traumatic bilateral basal ganglia hematoma: A report of two cases

    PubMed Central

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

    2012-01-01

    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

  17. Bilateral Cochlear Implantation in Children: Experiences and Considerations

    ERIC Educational Resources Information Center

    Bohnert, Andrea; Spitzlei, Vera; Lippert, Karl L.; Keilmann, Annerose

    2006-01-01

    Between 2000 and 2006, the University Clinic for Ear Nose and Throat and Communication Disorders in Mainz, Germany, performed 41 bilateral cochlear implantations in children. This article addresses some of the factors to be considered in a decision to bilaterally implant a child, including the age of the child at the first implant, the length of…

  18. Bilateral Symmetrical Congenital Giant Becker's Nevus: A Rare Presentation

    PubMed Central

    Rao, Angoori Gnaneshwar

    2015-01-01

    Becker's nevus is a focal epidermal hypermelanotic disorder. It morphologically presents as unilateral, hyperpigmented, hypertrichotic patch on upper trunk, proximal upper extremities and arms. However, Becker's nevus presenting as bilateral, symmetrical patches is rare. Herein, we report a rare case of giant Becker's nevus with bilateral symmetrical presentation in an adult male. PMID:26538733

  19. Ultrasound Diagnosis of Bilateral Quadriceps Tendon Rupture After Statin Use

    PubMed Central

    Nesselroade, Ryan D.; Nickels, Leslie Connor

    2010-01-01

    Simultaneous bilateral quadriceps tendon rupture is a rare injury. We report the case of bilateral quadriceps tendon rupture sustained with minimal force while refereeing a football game. The injury was suspected to be associated with statin use as the patient had no other identifiable risk factors. The diagnosis was confirmed using bedside ultrasound. PMID:21079697

  20. Spatial Hearing and Speech Intelligibility in Bilateral Cochlear Implant Users

    E-print Network

    Litovsky, Ruth

    Spatial Hearing and Speech Intelligibility in Bilateral Cochlear Implant Users Ruth Y. Litovsky,1 use bilateral cochlear implants. The first aim of the study was to investigate the change in speech hearing through cochlear implants in postlingually deafened adults, there is an early emergence of spatial

  1. Applications of a bilateral denoising filter in biological electron microscopy

    E-print Network

    Jiang, Wen

    Applications of a bilateral denoising filter in biological electron microscopy Wen Jiang,a Matthew of biological sample to the radiation damage, the low dose imaging conditions used for electron microscopy the effectiveness of a bilateral denoising filter in various biological electron microscopy applications

  2. Reiter's syndrome.

    PubMed

    Schneider, Joseph M; Matthews, Jeanette H; Graham, Bradley S

    2003-03-01

    Reiter's syndrome is a multisystem disease commonly triggered by a genitourinary infection or bacterial enteric infection. After a short latent period, ocular symptoms, oligoarthritis, and mucocutaneous involvement may occur. Classic cutaneous manifestations of Reiter's syndrome include keratoderma blennorrhagicum and balanitis circinata, both of which are microscopically similar to pustular psoriasis. PMID:12661746

  3. Apert Syndrome.

    PubMed

    Datta, Saikat; Saha, Sandip; Kar, Arnab; Mondal, Souvonik; Basu, Syamantak

    2014-09-01

    Apert syndrome is one of the craniosynostosis syndromes which, due to its association with other skeletal anomalies, is also known as acrocephalosyndactyly. It is a rare congenital anomaly which stands out from other craniosynostosis due to its characteristic skeletal presentations. PMID:26259326

  4. Bilateral thoracic ganglion cyst : a rare case report.

    PubMed

    Kazanci, Burak; Tehli, Ozkan; Türkoglu, Erhan; Guclu, Bulent

    2013-05-01

    Ganglion cysts usually arise from the tissues around the facet joints. It is usually associated with degenerative cahanges in facet joints. Bilateral thoracic ganglion cysts are very rare and there is no previous case that located in bilateral intervertebral foramen compressing the L1 nerve root associated with severe radiculopathy. We report a 53 years old woman who presented with bilateral groin pain and severe numbness. Magnetic resonance imaging revealed bilateral cystic mass in the intervertebral foramen between 12th thoracal and 1st lumbar vertebrae. The cystic lesions were removed after bilateral exposure of Th12-L1 foramens. The result of hystopathology confirmed the diagnosis as ganglion cyst. The ganglion cyst may compromise lumbar dorsal ganglion when it located in the intervertebral foramen. The surgeon should keep this rare entity in their mind for differential diagnosis. PMID:23908708

  5. Rare cause of paraparesis: bilateral obturator neuropathy after hysterosalpingectomy.

    PubMed

    López-Blanco, Roberto; Mejía-Jiménez, Inmaculada; de Fuenmayor-Fernández de la Hoz, Carlos Pablo; Ruiz-Morales, Juan

    2015-01-01

    Bilateral obturator nerve injury during pelvic surgery is an infrequent cause of lower limb paraparesis. We report the case of a 45-year-old woman with a large uterine leiomyoma who underwent simple total hysterectomy and bilateral salpingectomy. At 24?h after the surgery, the patient noticed loss of muscle strength when adducting both legs. She had no problem with other movements and no sensory or sphincter abnormalities. Neurological examination confirmed that there was loss of strength only in the adductor muscles, with preserved sensory function and reflexes, suggesting bilateral obturator nerve involvement. Pelvic MRI showed a small postsurgical haematoma in the Douglas recess, but far from the obturator nerves. 2?weeks later, electromyography showed positive sharp waves and low motor unit recruitment in the adductor magnus muscles, confirming acute, bilateral obturator nerve neuropathy. The few cases of bilateral obturator neuropathy that have been reported were mostly related to abdominopelvic interventions. PMID:26689250

  6. Exercise-Related Bilateral Leg Atypical Claudication in Female Olympic Taekwondo Player: A Case Report

    PubMed Central

    Vilás, Ramón Olivé; Rodriguez, Lorenzo Álvarez; Campos, Montserrat Yeste; Moran, Antonio De la Torre; Mas, Ferran Latorre

    2011-01-01

    We report the case of an Olympic taekwondo athlete with an atypical bilateral intermittent claudication that represented a handicap in her performance during competition fight. Diagnosis of chronic compartment syndrome was established by confirmation of compartment hypertension and the patient was submitted to fasciectomy. Recurrence of symptoms like numbness or tingling after 6 months raised the suspicion of deep compartmental hypertension that, once confirmed, was treated by a repeat deep fasciectomy. New symptoms appeared 4 months after surgery but no hypertension in the compartment was detected. Functional popliteal artery entrapment syndrome (FPAES) was suspected, an unusual form of this syndrome, in which a hypertrophic plantaris tendon as the cause of the entrapment was observed. Resection of the band was performed in a third operation. The patient evolved favourably, maintaining high competition level. Key points We need a thorough clinical examination to reach a satisfactory clinical diagnosis. FPAES is an uncommon disease that is frequently misdiagnosed and overlooked. Dynamic tests are essential for diagnosis de FPAES. PMID:24149572

  7. Exercise-related bilateral leg atypical claudication in female olympic taekwondo player: a case report.

    PubMed

    Vilás, Ramón Olivé; Rodriguez, Lorenzo Álvarez; Campos, Montserrat Yeste; Moran, Antonio De la Torre; Mas, Ferran Latorre

    2011-01-01

    We report the case of an Olympic taekwondo athlete with an atypical bilateral intermittent claudication that represented a handicap in her performance during competition fight. Diagnosis of chronic compartment syndrome was established by confirmation of compartment hypertension and the patient was submitted to fasciectomy. Recurrence of symptoms like numbness or tingling after 6 months raised the suspicion of deep compartmental hypertension that, once confirmed, was treated by a repeat deep fasciectomy. New symptoms appeared 4 months after surgery but no hypertension in the compartment was detected. Functional popliteal artery entrapment syndrome (FPAES) was suspected, an unusual form of this syndrome, in which a hypertrophic plantaris tendon as the cause of the entrapment was observed. Resection of the band was performed in a third operation. The patient evolved favourably, maintaining high competition level. Key pointsWe need a thorough clinical examination to reach a satisfactory clinical diagnosis.FPAES is an uncommon disease that is frequently misdiagnosed and overlooked.Dynamic tests are essential for diagnosis de FPAES. PMID:24149572

  8. Hereditary Renal Cell Carcinoma Syndromes: Clinical, Pathologic, and Genetic Features.

    PubMed

    Adeniran, Adebowale J; Shuch, Brian; Humphrey, Peter A

    2015-12-01

    Renal cell carcinomas associated with syndromes of a heritable nature account for about 4% of all renal cell carcinomas. They are characterized by an earlier age of onset, and are often multicentric and bilateral. Some of these patients may fit into well-characterized kidney cancer syndromes, while many more may have a genetic component that is not fully recognized or understood. The presence of extrarenal clinical features may suggest a specific renal tumor susceptibility syndrome. Moreover, each syndrome is associated with specific renal pathology findings. Recognition of individuals and families with a high risk of renal neoplasia is important so that surveillance for renal tumors may be initiated. This manuscript reviews the clinical, pathological, and molecular features of hereditary renal cell carcinoma syndromes with emphasis on the morphologic features of these tumors and the molecular mechanisms of hereditary renal tumorigenesis. PMID:26559379

  9. Comparative gait initiation kinematics between simulated unilateral and bilateral ankle hypomobility: Does bilateral constraint improve speed performance?

    PubMed

    Delafontaine, A; Honeine, J-L; Do, M-C; Gagey, O; Chong, R K

    2015-08-31

    Improvement of motor performance in unilateral upper limb motor disability has been shown when utilizing inter-limb coupling strategies during physical rehabilitation. This suggests that 'default' bilateral central motor commands are facilitated. Here, we tested whether this bilateral motor control principle may be generalized to the lower limbs during gait initiation, which involves alternate bilateral actions. Disability was simulated by strapping to produce ankle hypomobility. Healthy adult subjects initiated gait at a self-paced speed with no ankle constraint (control), or with the stance, swing or bilateral ankles strapped. The duration of the anticipatory postural adjustments lengthened and the center of mass instantaneous progression velocity at foot-off decreased when the ankle was strapped. During the step execution phase, progression velocity at foot-contact was higher when both ankles were strapped compared to unilateral strapping of the stance ankle. These findings suggest that bilateral central motor commands are favored during walking tasks. Indeed, unilateral constraint of the stance ankle should compel the central nervous system to adapt specific commands to the constraint and normal sides whereas the 'default' bilateral motor commands would be utilized when both ankles are strapped leading to better kinematics performance. Bilateral in-phase upper limb coordination and bilateral alternating lower limb locomotor movements may share similar control mechanisms. PMID:26197055

  10. Adrenal venous sampling in a patient with adrenal Cushing syndrome.

    PubMed

    Builes-Montaño, Carlos Esteban; Villa-Franco, Carlos Andrés; Román-Gonzalez, Alejandro; Velez-Hoyos, Alejandro; Echeverri-Isaza, Santiago

    2015-01-01

    The primary bilateral macronodular adrenal hyperplasia or the independent adrenocorticotropic hormone bilateral nodular adrenal hyperplasia is a rare cause hypercortisolism, its diagnosis is challenging and there is no clear way to decide the best therapeutic approach. Adrenal venous sampling is commonly used to distinguish the source of hormonal production in patients with primary hyperaldosteronism. It could be a useful tool in this context because it might provide information to guide the treatment. We report the case of a patient with ACTH independent Cushing syndrome in whom the use of adrenal venous sampling with some modifications radically modified the treatment and allowed the diagnosis of a macronodular adrenal hyperplasia. PMID:26309345

  11. Role of bilateral inferior petrosal sinus sampling (BIPSS) in the diagnosis of Cushing’s disease in a patient with double superior vena cava

    PubMed Central

    Tashi, Sonam; Ng, Keng Sin

    2015-01-01

    Cushing’s syndrome is known to have a wide spectrum of clinical presentation with debilitating consequences and morbidity if not diagnosed and treated in time. Sometimes the diagnosis of Cushing’s syndrome can be challenging to the endocrinologist, especially when the usual battery of biochemical tests and advanced cross-sectional imaging is negative or inconclusive. We described a case in which the use of bilateral inferior petrosal sinus sampling (BIPSS) was conclusive albeit being technically challenging (due to a rare incidental finding of double superior vena cava) and invasive in nature. PMID:26629301

  12. Syndrome designations.

    PubMed Central

    Cohen, M M

    1976-01-01

    Because syndrome designations permit the collection of data, they are much more than just lables. As new syndromes become delineated, their names connote (1) their phenotypic spectra, (2) their natural histories, and (3) their modes of inheritance or risk of recurrence. Various methods for designating new syndromes are reviewed, including naming them after (1) the basic defect, (2) an eponym, (3) one or more striking features, (4) an acronym, (5) a numeral, (6) a geographic term, and (7) some combination of the above. None of these systems of nomenclature is without fault. The advantages and disadvantages of each are discussed. PMID:957375

  13. Velocardiofacial syndrome.

    PubMed Central

    Pike, A. C.; Super, M.

    1997-01-01

    Velocardiofacial syndrome is a syndrome of multiple anomalies that include cleft palate, cardiac defects, learning difficulties, speech disorder and characteristic facial features. It has an estimated incidence of 1 in 5000. The majority of cases have a microdeletion of chromosome 22q11.2. The phenotype of this condition shows considerable variation, not all the principal features are present in each case. Identification of the syndrome can be difficult as many of the anomalies are minor and present in the general population. Images Figure 1 Figure 2 Figure 3 Figure 4 Figure 5 Figure 6 PMID:9497944

  14. Bilateral posterior semicircular canal aplasia and atypical paroxysmal positional vertigo: a case report

    PubMed Central

    Walther, LE; Nath, V; Krombach, GA; Di Martino, E

    2008-01-01

    Summary Isolated congenital malformations of semicircular canals are rare abnormalities. Most inner ear abnormalities occur in syndromes and are associated with hearing loss. Unilateral or bilateral single aplasia of one semicircular canal does not usually result in vertigo, but these become clinically important if there are clinical complaints of vertigo. Computed tomography imaging and high resolution magnetic resonance imaging may reveal inner ear abnormalities. The case is presented here of a 46-year-old male with a 10-year history of recurrent positional vertigo with strong onset when changing position to the left side. Magnetic resonance imaging of the inner ear showed a bilateral posterior semicircular canal aplasia as well as an enlarged vestibule on both sides. Dix-Hallpike positional manoeuvre revealed a positional nystagmus in the left head-hanging position of short duration and latency of a few seconds. When rising, vertigo occurred, but no nystagmus was visible. The fast phase of the nystagmus was mainly vertical down-beating with a slight torsional component to the uppermost ear. Although benign paroxysmal vertigo of the anterior canal was suspected, physical therapy was not effective using a modified liberatory manoeuvre. Brandt-Daroff therapy was effective permanently. PMID:18669072

  15. Bilateral topographic symmetry patterns across Aphrodite Terra, Venus

    NASA Technical Reports Server (NTRS)

    Crumpler, L. S.; Head, James W.

    1988-01-01

    Topographic profiles have been obtained across Aphrodite Terra to test for bilateral symmetry of the type associated with thermal boundary layer topography at divergent plate boundaries on earth. In addition to a broad bilateral symmetry at a range of angles across Aphrodite Terra, detailed bilateral symmetry is noted within domains between linear discontinuities in directions parallel to the strike of the discontinuities. The results suggest that western Aphrodite Terra is similar to terrestrial oceanic divergent plate boundary environments, and that the cross-strike discontinuities are analogous to oceanic fracture zones rather than strike-slip faults.

  16. Severe bilateral ischemic retinal vasculitis following cataract surgery.

    PubMed

    Nicholson, Laura B; Kim, Brian T; Jardón, Javier; Townsend-Pico, William; Santos, Carmen; Moshfeghi, Andrew A; Albini, Thomas A; Eliott, Dean; Sobrin, Lucia

    2014-01-01

    This report describes two cases of severe, bilateral ischemic retinal vasculitis following cataract surgeries at different surgical centers. In both cases, the patient underwent bilateral cataract surgeries, performed 1 week apart for each eye. In the perioperative period following the second of the two surgeries, both patients developed severe, bilateral intraocular inflammation and profound vision loss. The underlying cause of this adverse response remains unknown. The authors suggest that the severe inflammatory reaction could be related to an intraoperative intracameral vancomycin injection. PMID:25127533

  17. Rehabilitation for bilateral amputation of fingers

    USGS Publications Warehouse

    Stapanian, Martin A.; Stapanian, Adrienne M.P.; Staley, Keith E.

    2010-01-01

    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.

  18. Pregnancy with bilateral tubercular pleural effusion: challenges.

    PubMed

    Ahuja, Vanita; Gombar, Satinder; Kumar, Navneet; Goyal, Nitika; Gupta, Kanika

    2014-04-01

    Pulmonary tuberculosis (TB) during pregnancy mimics some of the physiological changes that occur during pregnancy. Diagnosis is challenging, especially when the patient presents with acute respiratory distress. The incidence of pleural effusion in TB is 3-25% and in the majority of patients, is unilateral. We describe the intensive care management of a 27-year-old pregnant woman admitted to our hospital with life threatening respiratory distress and circulatory shock. She continued to have severe metabolic and respiratory acidosis with shock in spite of the resuscitative measures undertaken. At that point, a bedside lung ultrasonography showed bilateral pleural effusion which was followed with therapeutic thoracocentesis of the right side. This resulted in the stabilization of the respiratory mechanics and haemodynamics of the patient. The pleural fluid culture tested positive for acid fast bacilli after 4 weeks in the intensive care unit. Anti-TB therapy was started and she made a rapid recovery with liberation from mechanical ventilation. The early use of bedside lung ultrasonography was instrumental in the successful management of this patient. PMID:24395882

  19. Psychosocial Outcomes after Bilateral Hand Transplantation

    PubMed Central

    Singh, Mansher; Oser, Megan; Zinser, Jennifer; Sisk, Geoffroy; Carty, Matthew J; Sampson, Christian; Pribaz, Julian J; Pomahac, Bohdan

    2015-01-01

    Background: Since the first successful hand transplantation in 1998, there have been multiple reports about surgical technique, transplant survival, and immunosuppression. However, very limited published data exist on psychosocial outcomes following hand transplantation. Methods: We report psychosocial outcomes in a patient with bilateral hand transplants at the midforearm level with serial follow-ups over 3.5 years. Different metrics used to study psychosocial outcomes included the following: SF-12, CES-D, Dyadic Adjustment Scale, Rosenberg SE, and EQ-5D. Result: Preoperatively, our patient did not have any evidence of depression (CES-D = 3), had a nonstressful relationship with his spouse (Dyadic Adjustment Scale = 100), and self-esteem was in the normal range (Rosenberg SE = 21). These metrics and his additional scales (SF-12 MCS, EQ-5D, and EQ-VAS) did not change appreciably and were within the normal range for the entire duration of 3.5-year follow-up at all different time points. Conclusion: With the increasing popularity of hand transplantation and the increasing awareness of the importance of psychosocial parameters in overall success, appropriate, comprehensive, and standardized measurements are important. These should be an integral part of patients’ screening and follow-up. PMID:26579339

  20. [Autoinflammatory syndromes/fever syndromes].

    PubMed

    Schedel, J; Bach, B; Kümmerle-Deschner, J B; Kötter, I

    2011-05-01

    Hereditary periodic (fever) syndromes, also called autoinflammatory syndromes, are characterized by relapsing fever and additional manifestations such as skin rashes, mucosal manifestations, or joint symptoms. Some of these disorders present with organ involvement and serological signs of inflammation without fever. There is a strong serological inflammatory response with an elevation of serum amyloid A (SAA), resulting in an increased risk of secondary amyloidosis. There are monogenic disorders (familial mediterranean fever (FMF), hyper-IgD-syndrome (HIDS), cryopyrin-associated periodic syndromes (CAPS), "pyogenic arthritis, acne, pyoderma gangrenosum" (PAPA), and "pediatric granulomatous arthritis (PGA) where mutations in genes have been described, which in part by influencing the function of the inflammasome, in part by other means, lead to the induction of the production of IL-1?. In "early-onset of enterocolitis (IBD)", a functional IL-10 receptor is lacking. Therapeutically, above all, the IL-1 receptor antagonist anakinra is used. In case of TRAPS and PGA, TNF-antagonists (etanercept) may also be used; in FMF colchicine is first choice. As additional possible autoinflammatory syndromes, PFAPA syndrome (periodic fever with aphthous stomatitis, pharyngitis and adenitis), Schnitzler syndrome, Still's disease of adult and pediatric onset, Behçet disease, gout, chronic recurrent multifocal osteomyelitis (CRMO) and Crohn's disease also are mentioned. PMID:21541834

  1. [Bilaterality in acute low-tone sensorineural hearing loss].

    PubMed

    Imamura, Shunichi; Honda, Hideyuki; Miyata, Masanori; Mizukoshi, Akihito; Masuyama, Keisuke

    2005-03-01

    Bilaterality in acute low-tone sensorineural hearing loss (ALHL) is more generally recognized than that in idiopathic sudden sensorineural hearing loss. Subjects were 274 patients diagnosed with ALHL based on criteria of a study group of the Ministry of Health, Labor and Welfare of Japan, i.e., total of 3 low tone hearing of 70dB or more and, a total of 3 high-tone hearing of 60dB or less, and treated at the departments of otolaryngology at Yamanashi University and Suwa Central Hospital. ALHL involving bilateral ears symptoms and/or bilateral hearing impairment conforming to diagnostic criteria was selected and summarized. Clinical ear symptoms, clinical test results, and hearing levels (total 3 low tone hearing, 1kHz, and total of 3 high-tone hearing) were statistically analyzed. We also reviewed Japanese clinical reports of ALHL that include bilateral cases. In 32 cases (11.7%) of 274 cases, both ear symptoms and hearing impairment were bilateral. In 22 (8.0%) of the 274, bilateral ear symptoms were present, but showed unilateral hearing loss conforming to diagnostic criteria. Another 22 (8.0%) out the 274 reported unilateral ear symptoms, but hearing tests indicated bilateral ALHL. A total of 76 cases (27.7%) of the 274 had bilaterality in either ear symptoms or hearing loss. Our review indicated that 9.0% (162 of 1803) ALHL patients were bilaterally affected, possibly indicating that AIHL includes a larger number of bilateral cases than currently assumed, if the opposite side were given a especially detailed clinical interview. Statistical analysis (Mann Whitney test, P<0.01) of hearing of unilateral cases indicated that 3 low tone hearing was more affected than 3 high-tone hearing, even on the normal side. These results indicate that ALHL tends to be bilateral, possibly due to the mechanism of pathogenesis, and also that the mechanism may include both local and general conditions. This more closely resembles Meniere's disease than idiopathic sudden sensorineural hearing loss. Both sides of bilateral cases were not usually the same in hearing patterns, glycerol test results, or prognosis. A statistically significant difference (Mann Whitney test, P<0.01) in total of 3 low tone hearing was seen between worse and better sides in bilateral cases. The degree of disease on both sides in bilateral cases thus was not always the same. Bilateral cases may result from both the influence of general conditions such as fatigue, stress, and lack of sleep and local conditions such as pathogenesis of endolymphatic hydrops that may cause differences in both ears. No clear difference was seen in clinical symptoms, hearing levels, and clinical examination, e.g., Schellong and glyceol tests, between unilateral and bilateral cases. Bilateral cases had a poorer prognosis (lower complete recovery ratio; chi2 test P<0.01) than unilateral cases. Our results indicated that cautious evaluation of opposite ear is necessary in diagnosis, treatment, and prognostication of ALHL. PMID:15828287

  2. Aicardi syndrome

    MedlinePLUS

    ... 3 and 5 months. The condition causes jerking (infantile spasms), a type of childhood seizure. Aicardi syndrome may ... completely missing Female sex Seizures (typically beginning as infantile spasms) Sores on the retina (retinal lesions) or optic ...

  3. Tourette Syndrome

    MedlinePLUS

    ... Tourette (pronounced: tuh-RET) syndrome, named for the French doctor Georges Gilles de la Tourette, who first ... get the condition. Doctors and researchers are continually learning new information about TS and what might lead ...

  4. Postthrombotic Syndrome

    MedlinePLUS

    ... syndrome. Blood . 2009 ; 114 : 4624 –4631. Abstract / FREE Full Text ? Vazquez SR, Freeman A, VanWoerkom RC, Rondina MT. ... CIRCULATIONAHA.109.925651 Extract Free Figures Only Free » Full Text Free PDF Free PPT Slides of All Figures ...

  5. Reye syndrome

    MedlinePLUS

    ... Reye syndrome: Confusion Lethargy Loss of consciousness or coma Mental changes Nausea and vomiting Seizures Unusual placement ... breathing machine may be needed during a deep coma) Fluids by IV to provide electrolytes and glucose ...

  6. Duane Syndrome

    MedlinePLUS

    ... the eye muscles. In Duane syndrome, the sixth cranial nerve that controls the lateral rectus muscle (the muscle ... abnormal innervation of a branch from the third cranial nerve, which normally controls the medial rectus muscle (the ...

  7. Potter syndrome

    MedlinePLUS

    Potter phenotype ... In Potter syndrome, the primary problem is kidney failure. The kidneys fail to develop properly as the baby is ... kidneys normally produce the amniotic fluid (as urine). Potter phenotype refers to a typical facial appearance that ...

  8. Rett Syndrome

    MedlinePLUS

    ... Rett syndrome is a neurodevelopmenal disorder that affects girls almost exclusively. It is characterized by normal early ... occur, although breathing usually improves during sleep. Some girls also display autistic-like symptoms such as loss ...

  9. Alport syndrome

    MedlinePLUS

    ... Learning new skills such as lip reading or sign language and getting hearing aids may help. Young men with Alport syndrome should use hearing protection in noisy environments. Genetic counseling may be recommended because the disorder is inherited.

  10. Usher Syndrome

    MedlinePLUS

    ... called retinitis pigmentosa, or RP. RP causes night-blindness and a loss of peripheral vision (side vision) ... to progress rapidly until the person is completely blind. Type 2 Children with type 2 Usher syndrome ...

  11. Neurocutaneous Syndromes

    MedlinePLUS

    ... local hospital or university for seminars or informational classes about neurocutaneous syndromes. Education can help you be ... site. Note: All information on KidsHealth® is for educational purposes only. For specific medical advice, diagnoses, and ...

  12. Serotonin syndrome

    MedlinePLUS

    ... syndrome will be considered. Tests may include: Blood cultures (to check for infection) Complete blood count (CBC) CT scan of the brain Drug (toxicology) and alcohol screen Electrolyte levels Electrocardiogram (ECG) Kidney and liver ...

  13. Sjogren's Syndrome

    MedlinePLUS

    ... recurrent mouth infections, swollen parotid glands, hoarseness, and difficulty in swallowing and eating. Debilitating fatigue and joint pain can seriously impair quality of life. What research is being done? The goals of research on disorders such as Sjögren's syndrome ...

  14. Bartter syndrome

    MedlinePLUS

    ... syndrome include: High levels of potassium , calcium, and chloride in the urine High levels of the hormones renin and aldosterone in the blood Low blood chloride Metabolic alkalosis These same signs and symptoms can ...

  15. Marfan Syndrome

    MedlinePLUS

    ... de fácil lectura) Other Information Heritable Disorders of Connective Tissue, Q&A Order a NIAMS publication to be ... syndrome is a heritable condition that affects the connective tissue. The primary purpose of connective tissue is to ...

  16. Marfan Syndrome

    MedlinePLUS

    ... disorder in 1896. Marfan syndrome affects the body's connective tissue. Connective tissue is found everywhere in the body. Think of ... a special type of protein that's found in connective tissue. Weakened connective tissue can lead to problems in ...

  17. Marfan Syndrome

    MedlinePLUS

    Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, blood vessels, and other organs. One of these proteins is fibrillin. A problem with the ...

  18. Cushing Syndrome

    MedlinePLUS

    ... The syndrome is named after a brain surgeon, Harvey Cushing, who identified the condition in 1932. 2 ... Shlomo, M., Polonsky, K.S, Larsen, P.R., eds. Williams. Textbook of Endocrinology. 12th ed. Philadelphia, Pa: Saunders ...

  19. 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

  20. 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 ...

  1. Metabolic Syndrome

    MedlinePLUS

    ... to Web version Metabolic Syndrome Overview What is insulin resistance? Your body changes most of the food you ... to insulin. Doctors refer to this condition as insulin resistance. If you have insulin resistance, your body will ...

  2. Marfan syndrome

    PubMed Central

    Jain, Eesha; Pandey, Ramesh Kumar

    2013-01-01

    Marfan syndrome is a rare autosomal dominant disorder of the connective tissue, with skeletal, ligamentous, orooculofacial, pulmonary, abdominal, neurological and the most fatal, cardiovascular manifestations. It has no cure but early diagnosis, regular monitoring and preventive lifestyle regimen ensure a good prognosis. However, the diagnosis can be difficult as it is essentially a clinical one, relying on family history, meticulous physical examination and investigation of involved organ systems. Patients of Marfan syndrome portray very typical physical and orofacial characteristics, suggesting obvious recognition, but due to variable phenotypic expression, cases often go unnoticed unless a full range of attributing features is apparent. Dental practitioners are very likely to encounter patients of Marfan syndrome at an early age as they frequently present for dental treatment. The present case report illustrates the preliminary screening of Marfan syndrome in a dental office followed by timely diagnosis and appropriate referrals. PMID:24336584

  3. Klinefelter syndrome

    MedlinePLUS

    ... arthritis , and Sjogren syndrome Breast cancer in men Depression Learning disabilities, including dyslexia, which affects reading A rare type of tumor called an extragonadal germ cell tumor Lung disease Osteoporosis Varicose veins

  4. Fanconi syndrome

    MedlinePLUS

    ... common cause of Fanconi syndrome in children. Other causes in children include: Exposure to heavy metals such as lead, mercury, or cadmium Lowe's disease, a rare genetic disorder of the eyes, brain, and kidneys Wilson's disease ...

  5. 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 ...

  6. Bilateral Granulomatous and Fibrinoheterophilic Otitis Interna due to Pseudomonas aeruginosa in a Captive Little Bustard ( Tetrax tetrax ).

    PubMed

    Scala, Christopher; Langlois, Isabelle; Lemberger, Karin

    2015-06-01

    A captive juvenile little bustard ( Tetrax tetrax ) was presented for acute onset of right head tilt and right circling. The bird failed to respond to supportive care and systemic antibiotic therapy. A bilateral granulomatous and fibrinoheterophilic otitis interna due to Pseudomonas aeruginosa was diagnosed postmortem by histopathologic examination and bacterial culture. In bustards, Pseudomonas species have been documented in the normal bacterial flora of the oropharynx and are frequently reported in upper respiratory tract infections. This is the first report of a peripheral vestibular syndrome due to P aeruginosa otitis interna in a bustard species. Pseudomonas aeruginosa should be included as a possible cause of otitis and peripheral vestibular syndrome in bustards. PMID:26115211

  7. 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 ...

  8. Carpal Tunnel Syndrome

    MedlinePLUS

    ... Awards Enhancing Diversity Find People About NINDS NINDS Carpal Tunnel Syndrome Information Page Condensed from Carpal Tunnel Syndrome Fact ... en Español Additional resources from MedlinePlus What is Carpal Tunnel Syndrome? Carpal tunnel syndrome is a painful condition caused ...

  9. Post-Polio Syndrome

    MedlinePLUS

    ... Enhancing Diversity Find People About NINDS NINDS Post-Polio Syndrome Information Page Condensed from Post-Polio Syndrome ... Español Additional resources from MedlinePlus What is Post-Polio Syndrome? Post-polio syndrome (PPS) is a condition ...

  10. Shaken Baby Syndrome

    MedlinePLUS

    NINDS Shaken Baby Syndrome Information Page Table of Contents (click to jump to sections) What is Shaken Baby Syndrome? Is there ... Trials Organizations Publicaciones en Español What is Shaken Baby Syndrome? Shaken baby syndrome is a type of ...

  11. Androgen insensitivity syndrome

    MedlinePLUS

    ... at the tip Reifenstein syndrome (also known as Gilbert-Dreyfus syndrome or Lubs syndrome) Infertile male syndrome ... F, Leveno KJ, Bloom SL, et al., eds. Williams Obstetrics . 23rd ed. New York, NY: McGraw-Hill, ...

  12. Facts about Down Syndrome

    MedlinePLUS

    ... Us Information For... Media Policy Makers Facts about Down Syndrome Language: English Español (Spanish) Recommend on Facebook Tweet ... families affected by Down syndrome » What is Down Syndrome? Down syndrome is a condition in which a ...

  13. Miller Fisher Syndrome

    MedlinePLUS

    NINDS Miller Fisher Syndrome Information Page Synonym(s): Fisher Syndrome Table of Contents (click to jump to sections) What is Miller Fisher ... and Information Publicaciones en Español What is Miller Fisher Syndrome? Miller Fisher syndrome is a rare, acquired ...

  14. Learning about WAGR Syndrome

    MedlinePLUS

    ... children who have WAGR syndrome may have normal intelligence. Other symptoms of WAGR syndrome may also include: ... mild. Some individuals with WAGR syndrome have normal intelligence. Children with WAGR syndrome should be referred for ...

  15. Wheatstone bridge fed from a bilateral constant current source.

    PubMed

    Velayudhan, C; Oommen, D

    1980-03-01

    A simple inexpensive scheme of an electronic amplifier for Wheatstone bridge application is presented. The bridge is excited from a bilateral constant current square wave source. The advantage of constant current drive is presented. PMID:18647085

  16. Bilateral primary adrenal non-Hodgkin's lymphoma without adrenal insufficiency.

    PubMed

    Simpson, William Greg; Babbar, Paurush; Payne, Lynnetta Faith

    2015-01-01

    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

  17. Spontaneous Unruptured Bilateral Tubal Pregnancy: A Case Report

    PubMed Central

    Ghomian, Nayereh; Lotfalizadeh, Marziyeh

    2015-01-01

    Bilateral spontaneous tubal ectopic pregnancy is the rarest form of extra uterine pregnancy. The diagnosis is usually made intraoperatively and levels of serum BHCG and ultrasound has not been useful in the diagnosis of bilateral tubal ectopic pregnancy. A 33-year-old woman with 8 weeks amenorrhea and sever lower abdominal pain was admitted. A transvaginal pelvic ultrasound revealed left adnexal mass and massive fluid collection in the pelvis and abdomen. The serum BHCG was 5,700 mIU/ml and in laparotomy bilateral unruptured tubal pregnancy was noted. Left salpingectomy and right salpingostomy were performed. The diagnosis of bilateral spontaneous tubal ectopic pregnancy is usually made intraoperatively. Both tubes at the time of surgery should be closely examined in order to prevent maternal morbidity and mortality. PMID:26538784

  18. Sound localization and interaural time sensitivity with bilateral cochlear implants

    E-print Network

    Poon, Becky Bikkei

    2006-01-01

    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 ...

  19. Bilateral keratocystic odontogenic tumor: A report of two cases.

    PubMed

    Srivatsan, K S; Kumar, Vikas; Mahendra, Ashish; Singh, Preeti

    2014-01-01

    The designation "keratocyst" was used to describe any jaw cyst in which keratin was formed to a large extent. A rare incidence of bilateral mandibular cysts (odontogenic keratocysts) was related to third molar teeth. Herein, we report two cases of bilateral keratocystic odontogenic tumor in a 22-year-old male and 15-year-old female, which was diagnosed by a series of investigations and treated appropriately. PMID:25298727

  20. Bilateral keratocystic odontogenic tumor: A report of two cases

    PubMed Central

    Srivatsan, K. S.; Kumar, Vikas; Mahendra, Ashish; Singh, Preeti

    2014-01-01

    The designation “keratocyst” was used to describe any jaw cyst in which keratin was formed to a large extent. A rare incidence of bilateral mandibular cysts (odontogenic keratocysts) was related to third molar teeth. Herein, we report two cases of bilateral keratocystic odontogenic tumor in a 22-year-old male and 15-year-old female, which was diagnosed by a series of investigations and treated appropriately. PMID:25298727

  1. Ultrasound assessment of bilateral symmetry in dorsal Lisfranc ligament.

    PubMed

    Marshall, Joshua J; Graves, Nathan C; Rettedal, David D; Frush, Katherine; Vardaxis, Vassilios

    2013-01-01

    Bilateral symmetry of the ligaments is a common assumption used as an intrasubject control for clinical diagnosis. The present study investigated the bilateral symmetry of the dorsal Lisfranc ligament (dLL) using ultrasound. Data were acquired from 50 asymptomatic subjects in a seated position at a loaded calf raise machine equipped with a force plate. The testing conditions included low, medium, and high stress at 0° and 15° abducted foot positions. Images of the dLL were captured and measured using a 10.0-MHz ultrasound transducer and custom written MATLAB software, respectively. The data were analyzed using paired t tests to compare the bilateral measurements of the dLL length under all test conditions. The bilateral pooled dLL length was 7.01 ± 1.38 mm and showed a moderate correlation with the foot length and width. No bilateral differences were found in the dLL length under any of the stress loads in the abducted position or under the medium and high stress load in the rectus position. However, the low stress load rectus position demonstrated a significant bilateral difference in the dLL length (p = .005). The smallest bilateral difference was observed at the 15° abducted position under medium stress (measurement error mean -0.062 mm). Our data suggest that the contralateral dLL length can be used as an intrasubject control for clinical purposes. However, we recommend that the dLL length measurements should be taken in weightbearing position with the foot in the abducted position under medium stress (bilateral stance), reducing potential strain-induced asymmetry. PMID:23522739

  2. Functional outcomes following surgical treatment of bilateral mandibular condylar fractures.

    PubMed

    Chen, C-T; Feng, C-H; Tsay, P-K; Lai, J-P; Chen, Y-R

    2011-01-01

    Debate continues regarding unilateral or bilateral treatment for mandibular condylar fractures. This retrospective study evaluates the functional outcomes of bilateral condylar process fractures after surgical intervention. From May 1994 to December 2004, 51 adult patients with bilateral mandibular condylar process fractures were studied. There were 33 cases of bilateral condylar fractures (type I); 12 cases of condylar-subcondylar fractures (type II); and six cases of bilateral subcondylar fractures (type III). All patients underwent open reduction and internal fixation. Four patients had chin deviation, six had malocclusion, three had poor chewing function and eight had limited mouth opening. Type I patients had a significantly higher incidence of limited mouth opening (P=0.039) and associated maxillary fractures (n=12) and psychiatric disease (n=6) which yielded significantly poor functional outcomes. Complications included transient facial paresis (n=4), fracture and loosening of postoperative plates (n=3) and surgical wound infections (n=2). Open reduction with rigid fixation for bilateral condylar fractures provided satisfactory functional outcomes in this study. Concomitant maxillary fractures and underlying psychiatric problems are poor outcome factors. Aggressive rehabilitation in the first 9 months is important for early functional recovery. PMID:20961735

  3. Neuroimaging and clinical characterization of Sotos syndrome.

    PubMed

    Türkmen, S; ?ahin, S; Koçer, N; Peters, H; Mundlos, S; Tüysüz, B

    2015-01-01

    Sotos syndrome is a well-known overgrowth syndrome characterized by excessive growth during childhood, macrocephaly, distinctive facial appearance and learning disability. This disorder is caused by mutations or deletions in NSD1 gene. The aim of this study is to examine the relationship between the neuroimaging and clinical features of children with Sotos syndrome. Six Turkish children with Sotos syndrome were followed up about 3-7 years. The diagnosis was confirmed with molecular genetic analysis. We identified the pathogenic NSD1 mutation including three novel in all patients. All the patients had a characteristic facial gestalt of Sotos syndrome consisting of triangular face with prominent forehead, frontoparietal sparseness of hair and small nose. However, the degree of psychomotor and intellectual development was variable. Severe learning defect and speech delay were remarkable in two patients. The neuroimaging analysis showed abnormalities in four of six patients including bilateral large ventricles, thinning of the corpus callosum and persistent cavum septum pellucidum et vergae. Typical craniofacial appearance is the primary finding for the diagnosis of the disease even in the infantile period. However, the degree of psychomotor and intellectual development is very variable and does not correlate with the neuroimaging findings. PMID:26043501

  4. Bilateral femoral neck fractures secondary to chronic carbamazepine use treated by bilateral dynamic hip screw: A case report

    PubMed Central

    Sariyilmaz, Kerim; Gulenc, Baris; Ozkunt, Okan; Dikici, Fatih; Yazicioglu, Onder

    2014-01-01

    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

  5. Systemic lupus erythematosus, Sjögren's syndrome and glomerular nephritis.

    PubMed Central

    Sobel, J. D.; Talor, Z.; Alroy, G.; Lichtig, C.; Valero, A.

    1977-01-01

    The combination of systemic lupus erythematosus, Sjögren's disease and severe diffuse glomerular nephritis has only rarely been reported. A 14-year-old girl is described with lupus nephritis in whom co-existent clinical and histological features of Sjögren's syndrome were found. These include bilateral parotid enlargement, xerostomia, increased serum amylase, reduced salivary secretion and lymphocyte infiltration of both salivary glands and kidneys. The co-existence of systemic lupus erythematosus with Sjögren's syndrome is discussed together with a consideration of pathogenesis. Images Fig. 1 Fig. 2 Fig. 3 Fig. 4 Fig. 5 PMID:876928

  6. Brown-McLean Syndrome in a Pediatric Patient

    PubMed Central

    Tourkmani, Abdo Karim; Martinez, Jaime D.; Berrones, David; Juárez-Domínguez, Brenda Y.; Beltrán, Francisco; Galor, Anat

    2015-01-01

    The purpose of this manuscript is to report the case of a 12-year-old patient who presented for routine ophthalmic examination after congenital cataract surgery performed at 2 months of age. The patient was diagnosed with bilateral Brown-McLean syndrome by slit lamp examination. No treatment was required because the patient was asymptomatic and had a clear central cornea. This is the first described case of Brown-McLean syndrome in a pediatric patient, representing the importance of clinical examination in the pediatric age group after cataract surgery because of the risk for patients of developing peripheral edema. PMID:26034485

  7. New dysmorphic features in Rubinstein-Taybi syndrome.

    PubMed Central

    Kanjilal, D; Basir, M A; Verma, R S; Rajegowda, B K; Lala, R; Nagaraj, A

    1992-01-01

    We report a new case of Rubinstein-Taybi syndrome with a hypoplastic right kidney, persistent pulmonary hypertension, and mitral valve regurgitation. Other pertinent features included broad thumbs, broad big toes, syndactyly of the third and fourth fingers bilaterally, beaked nose, broad columella of the nose, patent ductus arteriosus, and motor and mental retardation. The testes were descended. The 3 month old patient had delayed motor and mental development corresponding to a 1 month old infant. Images PMID:1404300

  8. Popliteal Artery Entrapment Syndrome: Report of 2 Critical Aspects Cases.

    PubMed

    Zaghloul, Rachid; Naouli, Hamza; Bouarhroum, Abdelatif

    2015-11-01

    Popliteal artery entrapment syndrome is a rare and underdiagnosed cause of claudication in young adult. The typical clinical feature is calf claudication; the following case reports describe 2 rare clinical aspects, acute limb ischemia and pulsatile mass revealing a bilateral anatomic entrapment. These cases suggest that an early diagnosis is mandatory to avoid a dramatic clinical outcome and to limit the surgical treatment to a myotomy. PMID:26315789

  9. Molding of top skull in the treatment of Apert syndrome.

    PubMed

    Shen, Weimin; Cui, Jie; Chen, Jianbin; Weiping, Shen

    2015-03-01

    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

  10. Compartment syndromes

    NASA Technical Reports Server (NTRS)

    Mubarak, S. J.; Pedowitz, R. A.; Hargens, A. R.

    1989-01-01

    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.

  11. Flammer syndrome

    PubMed Central

    2014-01-01

    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

  12. Flammer syndrome.

    PubMed

    Konieczka, Katarzyna; Ritch, Robert; Traverso, Carlo Enrico; Kim, Dong Myung; Kook, Michael Scott; Gallino, Augusto; Golubnitschaja, Olga; Erb, Carl; Reitsamer, Herbert A; Kida, Teruyo; Kurysheva, Natalia; Yao, Ke

    2014-01-01

    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

  13. Single-Session Radiofrequency Ablation of Bilateral Lung Metastases

    SciTech Connect

    Palussiere, Jean Gomez, Fernando; Cannella, Matthieu; Ferron, Stephane; Descat, Edouard; Fonck, Marianne; Brouste, Veronique; Avril, Antoine

    2012-08-15

    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.

  14. Extended phenotypes in a boy and his mother with oto-palato-digital-syndrome type II.

    PubMed

    Kaissi, Ali Al; Kraschl, Raimund; Kaulfersch, Wilhelm; Grill, Franz; Ganger, Rudolf

    2015-09-01

    We describe additional phenotypic features in a boy and his mother. Both manifested the phenotypic/genotypic correlation of oto-palato-digital syndrome type II. The mother's radiographs showed wormian bones of the skull, and paranasal bossing, her feet showed bilateral fusion of the cuboid with the lateral cuneiform bone with subsequent development of metatarsus varus associated with dysplastic distal phalanges. PMID:26401283

  15. Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene.

    PubMed

    Hummel, Marybeth; Cunningham, David; Mullett, Charles J; Kelley, Richard I; Herman, Gail E

    2003-10-15

    Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome is a rare X-linked dominant malformation syndrome characterized by unilaterally distributed ichthyosiform nevi, often sharply delimited at the midline, and ipsilateral limb defects. At least two-thirds of cases demonstrate involvement of the right side. Mutations in an essential enzyme of cholesterol biosynthesis, NAD(P)H steroid dehydrogenase-like [NSDHL], have been reported in five unrelated patients with right-sided CHILD syndrome and in a sixth patient with bilaterally, symmetric nevi and mild skeletal anomalies, but not with CHILD syndrome as originally defined. Although all of the molecularly diagnosed cases with the CHILD phenotype to date have had right-sided disease, we report here a novel nonsense mutation (E151X) of NSDHL in an infant with left-sided CHILD syndrome. This result demonstrates that both right- and left-sided CHILD syndrome can be caused by mutations in the same gene. PMID:12966526

  16. Prune Belly syndrome: A rare case report

    PubMed Central

    Samal, Sunil Kumar; Rathod, Setu

    2015-01-01

    Prune Belly syndrome (PBS) is a rare congenital anomaly of uncertain etiology almost exclusive to males. We report a case of term male baby born to a 39-year-old grand multipara with previous four normal vaginal births. There was no history of genetic or congenital anomaly in her family. Examination of the baby revealed hypotonia, deficient abdominal muscle, cryptorchidism, palpable kidney, and bladder. Ultrasound examination of the abdomen revealed bilateral gross hydronephrosis and megaureter. Provisional diagnosis of PBS was made and the baby was admitted in neonatal intensive care units for further management. Routine antenatal care with ultrasonography will help in detecting renal anomalies, which can be followed postnatally. Early diagnosis of this syndrome and determining its optimal treatment are very important in helping to avoid its fatal course. PMID:25810678

  17. [Peripheral, central and functional vertigo syndromes].

    PubMed

    Strupp, M; Dieterich, M; Zwergal, A; Brandt, T

    2015-12-01

    Depending on the temporal course, three forms of vertigo syndrome can be differentiated: 1) vertigo attacks, e.g. benign paroxysmal positional vertigo (BPPV), Menière's disease and vestibular migraine, 2) acute spontaneous vertigo lasting for days, e.g. acute unilateral vestibulopathy, brainstem or cerebellar infarction and 3) symptoms lasting for months or years, e.g. bilateral vestibulopathy and functional vertigo. The specific therapy of the various syndromes is based on three principles: 1) physical treatment with liberatory maneuvers for BPPV and balance training for vestibular deficits, 2) pharmacotherapy, e.g. for acute unilateral vestibulopathy (corticosteroids) and Menière's disease (transtympanic administration of gentamicin or steroids and high-dose betahistine therapy); placebo-controlled pharmacotherapy studies are currently being carried out for acute unilateral vestibulopathy, vestibular paroxysmia, prophylaxis of BPPV, vestibular migraine, episodic ataxia type 2 and cerebellar ataxia; 3) psychotherapy for functional dizziness. PMID:26643594

  18. Bilateral large traumatic hemorrhage of the basal ganglion

    PubMed Central

    Pandey, Nityanand; Mahapatra, Ashok; Singh, Pankaj Kumar

    2014-01-01

    Traumatic bilateral basal ganglia bleed is extremely rare. It is defined as a hemorrhagic lesion located in the basal ganglia or neighboring structures such as the internal capsule and the thalamus. This report describes a 37-year-old man who had large bilateral basal ganglia hemorrhage (BGH) with subdural hematoma and traumatic subarachnoid hemorrhage. With regards to an etiology of bilateral hemorrhage of the basal ganglia, we could not disclose any possible cause except head injury in spite of full diagnostic work-up. Our final diagnosis was bilateral traumatic BGH (TBGH). The pathomechanism of such injuries is still not clear and it is proposed to be due to shear injury to the lenticulostriate and choroidal arteries. Rather than any features of the TBGH itself, duration of coma and/or associated temporal herniation predicted slower recovery and worse outcome. Bilateral TBGH is an extremely rare entity, compatible with a favorable recovery, if not associated with damage to other cortical and subcortical structures and occurring in isolation. TBGH can be considered as a marker of poor outcome rather than its cause. The BGHs seem to be hemorrhagic contusions resulting from a shearing injury, due to high velocity impact. PMID:25685230

  19. Bilateral implantation in children with cochleovestibular nerve hypoplasia.

    PubMed

    Oker, N; Loundon, N; Marlin, S; Rouillon, I; Leboulanger, N; Garabédian, E N

    2009-10-01

    To report on the outcomes of sequential bilateral cochlear implantation (CI) in children with inner ear malformation. The study design is a retrospective case study. The setting is a tertiary reference center. Two children presenting a profound bilateral congenital hearing loss with bilateral hypoplasia of the cochleovestibular nerves and hypoplasic external semicircular canal had a cochlear implant at respectively 16 months and 33 months. A second implant was proposed at respectively 17 and 20 months after the first implant. The main outcome measures are audiometry, perceptive results in closed and open set words (CSW and OSW) and oral production at follow-up. The first cochlear implant gave respectively mean thresholds at 60 dB and 70 dB. Bilateral CI showed mean threshold at respectively 40 dB and 55 dB. In case 1, perceptive assessment was 83% and 70% in respectively CSW and OSW with oral production and comprehension of sentences after 1 year follow-up. In case 2, the perceptive assessment showed no perceptive or linguistic evolution at 6 months follow-up. In cochleovestibular nerve hypoplasia, bilateral implantation could be discussed in cases of limited result after unilateral implant. PMID:19665238

  20. Unilateral versus Bilateral Instrumentation in Spinal Surgery: A Systematic Review

    PubMed Central

    Molinari, Robert W.; Saleh, Ahmed; Molinari, Robert; Hermsmeyer, Jeff; Dettori, Joseph R.

    2015-01-01

    Study Design?Systematic review. Clinical Questions?(1) What is the comparative efficacy of unilateral instrumentation compared with bilateral instrumentation in spine surgery? (2) What is the safety of unilateral instrumentation compared with bilateral instrumentation in spine surgery? Methods?Electronic databases and reference lists of key articles were searched up to September 30, 2014, to identify studies reporting the comparative efficacy and safety of unilateral versus bilateral instrumentation in spine surgery. Studies including recombinant human bone morphogenetic protein 2 as adjunct therapy and those with follow-up of less than 2 years were excluded. Results?Ten randomized controlled trials met the inclusion criteria: five compared unilateral with bilateral instrumentation using open transforaminal or posterior lumbar interbody fusion (TLIF/PLIF), one used open posterolateral fusion, and four used minimally invasive TLIF/PLIF. There were no significant differences between unilateral and bilateral screw instrumentation with respect to nonunion, low back or leg pain scores, Oswestry Disability Index, reoperation, or complications. Conclusions?The existing literature does not identify significant differences in clinical outcomes, union rates, and complications when unilateral instrumentation is used for degenerative pathologic conditions in the lumbar spine. The majority of published reports involve single-level lumbar unilateral instrumentation. PMID:26131385

  1. Directional bilateral filters for smoothing fluorescence microscopy images

    NASA Astrophysics Data System (ADS)

    Venkatesh, Manasij; Mohan, Kavya; Seelamantula, Chandra Sekhar

    2015-08-01

    Images obtained through fluorescence microscopy at low numerical aperture (NA) are noisy and have poor resolution. Images of specimens such as F-actin filaments obtained using confocal or widefield fluorescence microscopes contain directional information and it is important that an image smoothing or filtering technique preserve the directionality. F-actin filaments are widely studied in pathology because the abnormalities in actin dynamics play a key role in diagnosis of cancer, cardiac diseases, vascular diseases, myofibrillar myopathies, neurological disorders, etc. We develop the directional bilateral filter as a means of filtering out the noise in the image without significantly altering the directionality of the F-actin filaments. The bilateral filter is anisotropic to start with, but we add an additional degree of anisotropy by employing an oriented domain kernel for smoothing. The orientation is locally adapted using a structure tensor and the parameters of the bilateral filter are optimized for within the framework of statistical risk minimization. We show that the directional bilateral filter has better denoising performance than the traditional Gaussian bilateral filter and other denoising techniques such as SURE-LET, non-local means, and guided image filtering at various noise levels in terms of peak signal-to-noise ratio (PSNR). We also show quantitative improvements in low NA images of F-actin filaments.

  2. Rett Syndrome.

    ERIC Educational Resources Information Center

    Culbert, Linda A.

    This pamphlet reviews the historical process involved in initially recognizing Rett Syndrome as a specific disorder in girls. Its etiology is unknown, but studies have considered factors as hyperammonemia, a two-step mutation, a fragile X chromosome, metabolic disorder, environmental causation, dopamine deficiency, and an inactive X chromosome.…

  3. Levator Syndrome

    MedlinePLUS

    ... Normal (News) Small Hospitals Seeing More Drug-Resistant E. Coli Infections Additional Content Medical News Levator Syndrome By Parswa ... News HealthDay Small Hospitals Seeing More Drug-Resistant E. Coli Infections WEDNESDAY, Oct. 14, 2015 (HealthDay News) -- Drug-resistant ...

  4. Alport Syndrome

    MedlinePLUS

    ... older the risk of kidney failure increases. All boys and girls with the autosomal recessive type of Alport Syndrome ... with this disease have the X-linked type. Boys with this type are severely ... in their lives. Girls with this type usually have milder symptoms than ...

  5. Pendred Syndrome

    MedlinePLUS

    ... to gain communication skills, such as learning sign language or cued speech or learning to use a hearing aid . Most people with Pendred syndrome will have hearing loss significant enough to be considered ... speech, and language. Use the following keywords to help you find ...

  6. Sotos syndrome

    PubMed Central

    Baujat, Geneviève; Cormier-Daire, Valérie

    2007-01-01

    Sotos syndrome is an overgrowth condition characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty, and associated with variable minor features. The exact prevalence remains unknown but hundreds of cases have been reported. The diagnosis is usually suspected after birth because of excessive height and occipitofrontal circumference (OFC), advanced bone age, neonatal complications including hypotonia and feeding difficulties, and facial gestalt. Other inconstant clinical abnormalities include scoliosis, cardiac and genitourinary anomalies, seizures and brisk deep tendon reflexes. Variable delays in cognitive and motor development are also observed. The syndrome may also be associated with an increased risk of tumors. Mutations and deletions of the NSD1 gene (located at chromosome 5q35 and coding for a histone methyltransferase implicated in transcriptional regulation) are responsible for more than 75% of cases. FISH analysis, MLPA or multiplex quantitative PCR allow the detection of total/partial NSD1 deletions, and direct sequencing allows detection of NSD1 mutations. The large majority of NSD1 abnormalities occur de novo and there are very few familial cases. Although most cases are sporadic, several reports of autosomal dominant inheritance have been described. Germline mosaicism has never been reported and the recurrence risk for normal parents is very low (<1%). The main differential diagnoses are Weaver syndrome, Beckwith-Wiedeman syndrome, Fragile X syndrome, Simpson-Golabi-Behmel syndrome and 22qter deletion syndrome. Management is multidisciplinary. During the neonatal period, therapies are mostly symptomatic, including phototherapy in case of jaundice, treatment of the feeding difficulties and gastroesophageal reflux, and detection and treatment of hypoglycemia. General pediatric follow-up is important during the first years of life to allow detection and management of clinical complications such as scoliosis and febrile seizures. An adequate psychological and educational program with speech therapy and motor stimulation plays an important role in the global development of the patients. Final body height is difficult to predict but growth tends to normalize after puberty. PMID:17825104

  7. Perioperative Outcomes Following Unilateral Versus Bilateral Total Knee Arthroplasty.

    PubMed

    Suleiman, Linda I; Edelstein, Adam I; Thompson, Rachel M; Alvi, Hasham M; Kwasny, Mary J; Manning, David W

    2015-11-01

    Simultaneous bilateral total knee arthroplasty (SB-TKA) is potentially a cost saving manner of caring for patients with bilateral symptomatic knee arthritis. We performed a retrospective analysis using the 2010-2012 American College of Surgeons National Surgical Quality Improvement Program (ACS-NSQIP) to evaluate the risk of perioperative complication following SB-TKA. Demographic characteristics, comorbidities, and 30-day complication rates were studied using a propensity score-matched analysis comparing patients undergoing unilateral TKA and SB-TKA. A total of 4489 patients met the inclusion criteria, of which 973 were SB-TKA. SB-TKA was associated with increased overall complications (P = 0.023), medical complications (P = 0.002) and reoperation (OR 2.12, P = 0.020). Further, total length of hospital stay (4.0 vs 3.4 days, P < 0.001) was significantly longer following bilateral surgery. PMID:26072300

  8. Bilateral vestibular loss, oscillopsia, and the cervico-ocular reflex.

    PubMed

    Chambers, B R; Mai, M; Barber, H O

    1985-06-01

    Oscillopsia during head movement occurs in patients with bilateral vestibular loss and may be transient or persistent. To investigate mechanisms underlying recovery we tested the vestibulo-ocular reflex (VOR), visual-vestibular interaction, and the cervico-ocular reflex (COR); we used a pseudorandom oscillatory stimulus with a frequency band width of 0 to 5 Hz in six patients with bilaterally absent caloric responses and in 10 normal controls. Seven control subjects had low-gain COR responses, but these were anticompensatory with respect to the VOR. Three asymptomatic patients with an absent or grossly deficient VOR had increased oculomotor responses at all frequencies when oscillated in light. Compensatory COR responses were detected in these patients but not in patients with persisting oscillopsia. In some patients with bilateral vestibular loss, augmented cervico-ocular and visual reflexes may compensate, at least partially, for an absent VOR. PMID:3927239

  9. Neglected bilateral rupture of the patellar tendon: A case report.

    PubMed

    Cherrad, Taoufik; Louaste, Jamal; Kasmaoui, El Houcine; Bousbaä, Hicham; Rachid, Khaled

    2015-12-01

    Simultaneous bilateral rupture of the patellar tendon (PT) is extremely rare and is generally associated to some chronic diseases. When the rupture becomes chronic, it is more difficult to repair that as it remained untreated. The diagnosis, which is clinical, is often delayed, guided by standard radiography and confirmed by ultrasound or MRI. The management of a bilateral neglected, chronic patellar tendon rupture must address some serious difficulties: the proximally retracted patella, the reconstruction of the patellar tendon, finally, the temporary protection of this repair. We report a case of neglected bilateral rupture of the patellar tendon in a chronic hemodialysis patient, treated with a plastic surgery of the ipsilateral quadriceps tendon. PMID:26566349

  10. Blindness after bilateral neck dissection: case report and review.

    PubMed

    Pazos, G A; Leonard, D W; Blice, J; Thompson, D H

    1999-01-01

    The primary objective of this review of the literature is to identify the probable causes of blindness after bilateral radical neck dissections. This case report and literature review also discusses possible preventive measures that may avert this catastrophic outcome. Cases of blindness after bilateral radical neck dissection were identified by an electronic literature search, as well as cross-checking all references of the above-identified papers. Eleven previous cases of blindness after bilateral neck dissection were identified. The most common cause was posterior ischemic optic neuropathy (PION), which was permanent. We present the only case in the literature in which blindness occurred after radical neck dissections separated by a span of 9 years. The cause of blindness in our patient was posterior ischemic optic neuropathy. Contributing factors included anemia, hypotension, and disruption of collateral venous return from the neck. PMID:10512147

  11. Bilateral orthokeratinized odontogenic cyst: A rare case report and review

    PubMed Central

    Pimpalkar, Rahul Devidas; Barpande, Suresh R; Bhavthankar, Jyoti D; Mandale, Mandakini S

    2014-01-01

    Orthokeratinized odontogenic cyst (OOC) is a developmental cyst of jaw and was initially considered by the World Health Organization (1992) as the uncommon orthokeratinized variant of odontogenic keratocyst (OKC). However, studies have shown that OOC has peculiar clinicopathologic aspects when compared with other developmental odontogenic cysts, especially OKC. So orthokeratinized odontogenic cyst now stands out to be a distinct entity. Clinically, it occurs as a single cyst, shows a predilection for males and is most often found in the second to the fifth decade. Its bilateral occurrence is extremely rare. The purpose of the article is to present a rare case of bilateral OOC arising in the mandible and review the literature on bilateral occurrence of this lesion. PMID:25328309

  12. Bilateral chylothorax as a complication of internal jugular vein cannulation

    PubMed Central

    Saxena, Puneet; Shankar, Subramanian; Kumar, Vivek; Naithani, Nardeep

    2015-01-01

    Central venous catheterization is one of the most prevalent procedures in the Intensive Care Unit. Complications are reported in about 15% of the patients and usually comprise of infection, arterial puncture, malpositioning, pneumothorax, local hematoma, hemothorax, and so on. Chylothorax is a rare complication of this procedure. We present a 42-year-old lady, who developed bilateral massive chylothorax after cannulation of her left internal jugular vein (IJV), due to direct injury to the thoracic duct during the procedure. The patient was successfully managed with bilateral chest tube drainage and omission of oral feeds for four days. Development of bilateral chylothorax as a complication of IJV cannulation is rare, but merits reporting, in view of a large number of central venous cannulations being undertaken. Critical care professionals should be aware of this rare complication of a common procedure to facilitate early identification and institute appropriate therapy. PMID:26180388

  13. Clinical symptoms of bilateral anterior cerebral artery territory infarction.

    PubMed

    Kobayashi, Shunsuke; Maki, Toshiyuki; Kunimoto, Masanari

    2011-02-01

    Bilateral anterior cerebral artery (ACA) territory infarction is rare and its associated symptoms are still not well understood. We evaluated the clinical symptoms of four patients with bilateral ACA infarction. The common clinical features were various primitive reflexes and parkinsonian symptoms including akinesia, rigidity and hypophonia. Frontal release signs were present in all patients with ACA infarction even without direct involvement of the prefrontal cortex. Enhanced glabellar tap response, previously not reported in patients with ACA infarction, was the most consistent finding, and electrophysiological studies confirmed hyperexcitability of the late component of the blink reflex. The bilateral lesions in the deep white matter may be associated with the observed symptoms, reflecting functional disconnection of the medial prefrontal-subcortical circuitry. PMID:21159512

  14. The Source for Syndromes.

    ERIC Educational Resources Information Center

    Richard, Gail J.; Hoge, Debra Reichert

    Designed for practicing speech-language pathologists, this book discusses different syndrome disabilities, pertinent speech-language characteristics, and goals and strategies to begin intervention efforts at a preschool level. Chapters address: (1) Angelman syndrome; (2) Asperger syndrome; (3) Down syndrome; (4) fetal alcohol syndrome; (5) fetal…

  15. A case of severe ectopic ACTH syndrome from an occult primary – diagnostic and management dilemmas

    PubMed Central

    Griffin, Katherine; Amer, Saima

    2015-01-01

    Summary Resection of primary tumour is the management of choice in patients with ectopic ACTH syndrome. However, tumours may remain unidentified or occult in spite of extensive efforts at trying to locate them. This can, therefore, pose a major management issue as uncontrolled hypercortisolaemia can lead to life-threatening infections. We present the case of a 66-year-old gentleman with ectopic ACTH syndrome from an occult primary tumour with multiple significant complications from hypercortisolaemia. Ectopic nature of his ACTH-dependent Cushing's syndrome was confirmed by non-suppression with high-dose dexamethasone suppression test and bilateral inferior petrosal sinus sampling. The primary ectopic source remained unidentified in spite of extensive anatomical and functional imaging studies, including CT scans and Dotatate-PET scan. Medical adrenolytic treatment at maximum tolerated doses failed to control his hypercortisolaemia, which led to recurrent intra-abdominal and pelvic abscesses, requiring multiple surgical interventions. Laparoscopic bilateral adrenalectomy was considered but decided against given concerns of technical difficulties due to recurrent intra-abdominal infections and his moribund state. Eventually, alcohol ablation of adrenal glands by retrograde adrenal vein approach was attempted, which resulted in biochemical remission of Cushing's syndrome. Our case emphasizes the importance of aggressive management of hypercortisolaemia in order to reduce the associated morbidity and mortality and also demonstrates that techniques like percutaneous adrenal ablation using a retrograde venous approach may be extremely helpful in patients who are otherwise unable to undergo bilateral adrenalectomy. Learning points Evaluation and management of patients with ectopic ACTH syndrome from an unidentified primary tumour can be very challenging.Persisting hypercortisolaemia in this setting can lead to debilitating and even life-threatening complications and hence needs to be managed aggressively.Bilateral adrenalectomy should be considered when medical treatment is ineffective or poorly tolerated.Percutaneous adrenal ablation may be considered in patients who are otherwise unable to undergo bilateral adrenalectomy. PMID:26649179

  16. Unilateral Breast Reconstruction Using Bilateral Inferior Gluteal Artery Perforator Flaps

    PubMed Central

    Muto, Mayu; Ogawa, Marina; Shibuya, Mai; Yasumura, Kazunori; Kobayashi, Shinji; Ishikawa, Takashi; Maegawa, Jiro

    2015-01-01

    Background: For reconstructing moderate-to-high projection breasts in nulliparous patients with insufficient abdominal tissue or prior abdominal surgeries, a unilateral inferior gluteal artery perforator (IGAP) flap is an alternative procedure. In patients with slim hips, however, unilateral gluteal tissue is insufficient and inferior gluteal crease displacement may develop postoperatively. Donor-site asymmetry is also a major disadvantage. In these circumstances, bilateral IGAP flaps provide sufficient tissue without significant gluteal deformity. Methods: We retrospectively reviewed 20 patients who underwent unilateral breast reconstruction using bilateral IGAP flaps by a single surgeon between November 2007 and December 2012. A quantitative outcome assessment was performed and compared with that of 22 unilateral IGAP flap patients operated on by the same surgeon. Results: Twenty patients underwent reconstruction with 40 IGAP flaps. Of the 40 flaps, 39 survived and 1 developed total necrosis due to repeated venous thrombosis. In 15 of 20 patients, the size of reconstructed breast was comparable to that of the contralateral breast. Final inset flap weight was 462.3 g for bilateral flaps and 244.3 g for unilateral flaps. Total operating time was 671.1 minutes (bilateral flaps) and 486.8 minutes (unilateral flaps). Conclusions: Use of bilateral IGAP flaps for breast reconstruction helps to avoid asymmetry of the inferior buttock volume and shape. Bilateral flaps provide sufficient tissue volume and allow for reconstruction of a breast comparable to the unaffected side. In patients with moderate-to-high projection breast whose abdominal tissue cannot be used for reconstruction, IGAP flaps may be a suitable alternative. PMID:25878925

  17. A Case of Vogt-Koyanagi-Harada Disease Associated With Polycystic Ovary Syndrome

    PubMed Central

    Kaya, Mehmet Kaan; Turgut, Burak; Demir, Tamer; Celiker, Ulku; Gurates, Bilgin

    2011-01-01

    We report a female patient diagnosed as Vogt-Koyanagi-Harada (VKH) and polycystic ovary syndrome (PCOS). She has diagnosed as VKH with diminished vision, bilateral serous retinal detachment, the signs of fundus fluorescein angiography and the findings of optical coherence tomography. The patient was referred to the gynecology clinic for her complaints as weight gain, hirsutismus and amenorrhea. She has also been diagnosed with PCOS. With oral steroid treatment, visual acuity has improved and the detachments have resolved within a month. VKH disease may be associated with polycystic ovary syndrome. The two conditions may have a common autoimmune pathogenesis. Keywords Autoimmune pathogenesis; Polycystic ovary syndrome; Vogt-Koyanagi-Harada PMID:21811536

  18. Bilateral coexistence of keratoconus and macular corneal dystrophy

    PubMed Central

    Al-Hamdan, Ghazi; Al-Mutairi, Sultan; Al-Adwani, Eiman; Al-Mujaini, Abdullah

    2009-01-01

    Bilateral coexistence of keratoconus and macular corneal dystrophy is a very rare clinical entity. Further elaboration on the possible genetic, histopathologic, pathophysiologic and biochemical correlation is required to study the nature of the condition. The authors hereby report a 21-year-old female who presented with the typical signs and topographic evidence of keratoconus in association with macular corneal dystrophy. Histopathologic evaluation from the excised corneal button after corneal transplant confirmed the diagnosis. To our knowledge, there is only one previous report in the literature linking the association of keratoconus and macular corneal dystrophy in the same eye bilaterally. PMID:20671834

  19. Conservative management in congenital bilateral upper eyelid eversion.

    PubMed

    Dohvoma, Viola Andin; Nchifor, Alice; Ngwanou, Aronette Nana; Attha, Elisabeth; Ngounou, Faustin; Bella, Assumpta Lucienne; Ebana Mvogo, Côme

    2015-01-01

    Aim. To report the case of congenital bilateral upper eyelid eversion with severe chemosis that was successfully managed conservatively. Report. The patient was a six-hour-old male neonate with bilateral congenital upper eyelid eversion and severe chemosis, following uneventful delivery. Conservative management consisted of the application of antibiotic ointment and padding the exposed conjunctiva with 5% hypertonic saline-soaked gauze. The eyelids reverted spontaneously on day 3 and the condition was completely resolved by the third week. Conclusion. Congenital upper lid eversion is usually a benign condition which responds well to conservative treatment. Creating awareness amongst healthcare professionals is essential. PMID:25960903

  20. Conservative Management in Congenital Bilateral Upper Eyelid Eversion

    PubMed Central

    Nchifor, Alice; Ngwanou, Aronette Nana; Attha, Elisabeth; Ngounou, Faustin; Bella, Assumpta Lucienne; Ebana Mvogo, Côme

    2015-01-01

    Aim. To report the case of congenital bilateral upper eyelid eversion with severe chemosis that was successfully managed conservatively. Report. The patient was a six-hour-old male neonate with bilateral congenital upper eyelid eversion and severe chemosis, following uneventful delivery. Conservative management consisted of the application of antibiotic ointment and padding the exposed conjunctiva with 5% hypertonic saline-soaked gauze. The eyelids reverted spontaneously on day 3 and the condition was completely resolved by the third week. Conclusion. Congenital upper lid eversion is usually a benign condition which responds well to conservative treatment. Creating awareness amongst healthcare professionals is essential. PMID:25960903

  1. Spontaneous bilateral rod fracture of malleable penile prosthesis

    PubMed Central

    Bozkurt, Ibrahim Halil; Yonguc, Tarik; Arslan, Burak; Kozacioglu, Zafer; Degirmenci, Tansu; Polat, Salih; Minareci, Suleyman

    2014-01-01

    Mechanical failure with a malleable penile prosthesis is very rare. To the best of our knowledge, this is the first case reporting on a bilateral AMS 650 rod mechanical failure. We present a 50-year-old man with organic erectile dysfunction who experienced bilateral AMS 650 rod fracture after 14 years. The rod fracture of the left side was confirmed via X-ray preoperatively. The surgical exploration revealed a fracture of both rods. After the removal of both rods, we implanted a new malleable device during the same session. At the 6-month follow-up, the patient was satisfied with his prosthesis. PMID:25408816

  2. Early bilateral nephrectomy in infantile autosomal recessive polycystic kidney disease.

    PubMed

    Mallett, Tamara Mary; O'Hagan, Emma; McKeever, Karl Gerard

    2015-01-01

    The management of neonatal autosomal recessive polycystic kidney disease (ARPKD) complicated by severe pulmonary insufficiency presents complex clinical challenges. Where massive nephromegaly exists, early bilateral nephrectomy, supportive peritoneal dialysis and early aggressive nutrition can minimise infant mortality. Consensus, however, is lacking on the role and optimal timing of nephrectomy, with decision-making driven by the patient's clinical condition and the expertise of the centre. We report on our experience of an infant with ARPKD requiring neonatal renal replacement therapy and survival at 14?months following early bilateral nephrectomy. PMID:26670891

  3. Bilateral mandibular subcondylar fractures contributing to airway obstruction.

    PubMed

    Bavitz, J B; Collicott, P E

    1995-08-01

    Bilateral mandibular fracture contributing to airway obstruction is a well-understood phenomenon. This is typically described as a rather immediate or acute process. After trauma, the production of a "flail mandible" with concomitant loss of support of tongue muscles is thought to result in obstruction of the upper airway. An unusual case in which the bilateral mandibular fractures contributed to an airway obstruction 10 days after the initial trauma is described. The cause is explained and methods of prevention and treatment are presented. PMID:7490488

  4. Bilateral muscular tinnitus due to myoclonus of extrinsic auricular muscles.

    PubMed

    Lee, Kijeong; Chang, Jiwon; Park, Sangheon; Im, Gi Jung; Choi, Hyung Joon; Kim, Jin Hwan; Kim, Hyung-Jong

    2015-04-01

    The muscular tinnitus due to an extrinsic auricular myoclonus is an extremely rare disorder which demonstrates a semirhythmic involuntary movement of the ear. We report a 33-year-old man with clicking tinnitus caused by focal myoclonic jerks of bilateral posterior auricularis muscle and bilateral temporalis muscle. This muscular tinnitus persisted except for when he was sleeping or breath holding. His symptom responded poorly to medical therapy but was controlled by botulinum toxin type A injection under electromyography monitoring with favorable outcome. Previous reports of this condition and possible therapeutic approaches are discussed. PMID:25466808

  5. [Bilateral visual deterioration in excessive tobacco and alcohol consumption].

    PubMed

    Cyrus-Hajmassy, M

    2012-09-01

    A 33-year-old patient with a history of excessive alcohol and tobacco abuse for years presented with bilateral painless deterioration of vision in the last 3 months. Examination revealed the initial phase of bilateral optic nerve atrophy. In cases like this a purely clinical discrimination between Leber's hereditary optic neuropathy (LHON) and tobacco-alcohol neuropathy can be very challenging. In this case LHON could be confirmed by genetic analysis. Visual and neurological outcomes differ for different mutations. Therapy with idebenone, a derivate of coenzyme Q, seems to be promising at least in selected patient groups. PMID:22767349

  6. Harvey Cushing's Contributions to Plastic Surgery: Bilateral Cleft Lip Repair.

    PubMed

    Molendijk, Josher; Pendleton, Courtney; Rachwalski, Martin; Quinones-Hinojosa, Alfredo; Dorafshar, Amir H

    2014-01-01

    Harvey Cushing has been deemed by many as the neurosurgeon of the 20th century. Cushing's unknown contributions to the field of plastic and reconstructive surgery were only recently reported. Further review of his teaching and operative records, brought from Johns Hopkins to Yale University, revealed an unpublished case of bilateral cleft lip repair that he performed. In this article, we present in detail this comprehensive case and describe, with the help of his personal teaching notes and illustrations, how Cushing combined methods from world-renowned surgeons to approach bilateral cleft lip deformities. PMID:23551074

  7. Bilateral Cystic Lymphangioma of Ovary Associated with Chylous Ascites

    PubMed Central

    Arakeri, Surekha Ulhas; Patil, Vijaya L.; Mulay, Himanshu Dilip

    2015-01-01

    Intraabdominal cystic lymphangiomas are rare and are located in retroperitoneum, mesentery, omentum and other visceral organs. Lymphangiomas of the ovary are rare and are usually unilateral. Cases with bilateral cystic lymphangiomas of the ovary are reported very rarely in literature. We report a rare case of bilateral cystic lymphangioma of ovary associated with chylous ascites in a 35-year-old lady who presented with complaints of severe dysmenorrhoea and oligomenorrhoea since 6 months with history of chyluria for the past 3 years. PMID:26435959

  8. Rare cause of bilateral groin swelling: Round ligament varicosities.

    PubMed

    Bulbul, Erdogan; Taskin, Mine Islimye; Yanik, Bahar; Demirpolat, Gulen; Adali, Ertan; Basbug, Murat

    2015-01-01

    Round ligament varicosity (RLV) is rare and almost all cases are pregnant women. RLV appears as a unilateral or bilateral groin swelling. Pain and tenderness may present. Clinical evaluation is inadequate for exact diagnosis because inguinal hernia has similar findings. Ultrasonography (US) is essential when a groin swelling is detected in a pregnant woman. We present gray scale US and colour Doppler US findings of a 32-week pregnant woman with bilateral RLVs at the inguinal canal, parauterine area and in the myometrium. PMID:26430450

  9. Bilateral synchronous ossifying fibromas of the mandible: a case report

    PubMed Central

    Tayfur, Mahir; Tayfur, Ebru Kadioglu; Balc?, Mecdi Gurhan; Deger, Ayse Nur; C?men, Ferda Keskin; Daltaban, Feyza

    2015-01-01

    Ossifying fibroma of the jaw is a benign fibroosseous tumour. The growth of it is slowly and it is well circumscribed. Occurrence of multiple ossifying fibromas (synchronous) is rare in the jaw, and only a few cases have been documented. The most of these cases were in only maxilla. The fewer cases were reported in both of maxilla and mandible. We report a case of bilateral synchronous ossifying fibromas involving the mandible of a 37 years old male. The importance of our case is that bilaterality and synchronous of the lesions. Our case is the first synchronous mandibler lesion in literature reported. PMID:26191307

  10. Fluency Disorders in Genetic Syndromes

    ERIC Educational Resources Information Center

    Van Borsel, John; Tetnowski, John A.

    2007-01-01

    The characteristics of various genetic syndromes have included "stuttering" as a primary symptom associated with that syndrome. Specifically, Down syndrome, fragile X syndrome, Prader-Willi syndrome, Tourette syndrome, Neurofibromatosis type I, and Turner syndrome all list "stuttering" as a characteristic of that syndrome. An extensive review of…

  11. Bilateral Pheochromocytomas, Hemihyperplasia, and Subtle Somatic Mosaicism: The Importance of Detecting Low-Level Uniparental Disomy

    PubMed Central

    Kalish, Jennifer M.; Conlin, Laura K.; Mostoufi-Moab, Sogol; Wilkens, Alisha B.; Mulchandani, Surabhi; Zelley, Kristin; Kowalski, Megan; Bhatti, Tricia R.; Russo, Pierre; Mattei, Peter; Mackenzie, William G.; LiVolsi, Virginia; Nichols, Kim E.; Biegel, Jaclyn A.; Spinner, Nancy B.; Deardorff, Matthew A.

    2014-01-01

    We report on a patient with early onset pediatric bilateral pheochromocytomas caused by mosaic chromosome 11p15 paternal uniparental isodisomy (UPD). Hemihyperplasia of the arm was diagnosed in a 4-month-old female and clinical methylation testing for 11p15 in the blood was normal, with a reported detection threshold for mosaicism of 20%. She was subsequently diagnosed at 18 months with bilateral pheochromocytomas. Single-nucleotide polymorphism (SNP) array analysis of pheochromocytoma tissue demonstrated mosaic deletions of 8p12pter, 21q21.1qter, 22q11.23qter; commonly seen in pheochromocytomas. In addition, mosaic 11p15.3pter homozygosity was noted. Molecular testing for other causes of pheochromocytomas was normal, suggesting that 11p15 homozygosity was the primary event. Subsequent SNP array analysis of skin fibroblasts from the hyperplastic side demonstrated 5% mosaic paternal UPD for 11p15. We have subsequently used SNP array analysis to identify four patients with subtle hemihyperplasia with low-level mosaic UPD that was not detected by methylation analysis. Given the increased sensitivity of SNP array analysis to detect UPD along with the increased incidence of tumorigenesis in these UPD patients, we suggest that it has high utility in the clinical work-up of hemihyperplasia. The present case also suggests that 11p15 paternal UPD may be an under-detected mechanism of sporadic pheochromocytoma in the pediatric population. Furthermore, a review of the literature suggests that patients with 11p15 paternal UPD may present after 8 years of age with pheochromocytoma and raises the possibility that ultrasound screening could be considered beyond 8 years of age in this subset of hemihyperplasia and Beckwith–Wiedemann syndrome patients. PMID:23532898

  12. Bilateral pheochromocytomas, hemihyperplasia, and subtle somatic mosaicism: the importance of detecting low-level uniparental disomy.

    PubMed

    Kalish, Jennifer M; Conlin, Laura K; Mostoufi-Moab, Sogol; Wilkens, Alisha B; Mulchandani, Surabhi; Zelley, Kristin; Kowalski, Megan; Bhatti, Tricia R; Russo, Pierre; Mattei, Peter; Mackenzie, William G; LiVolsi, Virginia; Nichols, Kim E; Biegel, Jaclyn A; Spinner, Nancy B; Deardorff, Matthew A

    2013-05-01

    We report on a patient with early onset pediatric bilateral pheochromocytomas caused by mosaic chromosome 11p15 paternal uniparental isodisomy (UPD). Hemihyperplasia of the arm was diagnosed in a 4-month-old female and clinical methylation testing for 11p15 in the blood was normal, with a reported detection threshold for mosaicism of 20%. She was subsequently diagnosed at 18 months with bilateral pheochromocytomas. Single-nucleotide polymorphism (SNP) array analysis of pheochromocytoma tissue demonstrated mosaic deletions of 8p12pter, 21q21.1qter, 22q11.23qter; commonly seen in pheochromocytomas. In addition, mosaic 11p15.3pter homozygosity was noted. Molecular testing for other causes of pheochromocytomas was normal, suggesting that 11p15 homozygosity was the primary event. Subsequent SNP array analysis of skin fibroblasts from the hyperplastic side demonstrated 5% mosaic paternal UPD for 11p15. We have subsequently used SNP array analysis to identify four patients with subtle hemihyperplasia with low-level mosaic UPD that was not detected by methylation analysis. Given the increased sensitivity of SNP array analysis to detect UPD along with the increased incidence of tumorigenesis in these UPD patients, we suggest that it has high utility in the clinical work-up of hemihyperplasia. The present case also suggests that 11p15 paternal UPD may be an under-detected mechanism of sporadic pheochromocytoma in the pediatric population. Furthermore, a review of the literature suggests that patients with 11p15 paternal UPD may present after 8 years of age with pheochromocytoma and raises the possibility that ultrasound screening could be considered beyond 8 years of age in this subset of hemihyperplasia and Beckwith-Wiedemann syndrome patients. PMID:23532898

  13. Dumping Syndrome.

    PubMed

    Hasler, William L.

    2002-04-01

    The dumping syndrome consists of early postprandial abdominal and vasomotor symptoms, resulting from osmotic fluid shifts and release of vasoactive neurotransmitters, and late symptoms secondary to reactive hypoglycemia. Effective relief of symptoms of dumping syndrome can be achieved with dietary modifications to minimize ingestion of simple carbohydrates and to exclude fluid intake during ingestion of the solid portion of the meal. More severely affected individuals may respond to agents such as pectin and guar, which increase the viscosity of intraluminal contents, or to drugs such as the alpha-glucosidase inhibitor acarbose, which blunts the rapid absorption of glucose, and the somatostatin analog octreotide, which alters gut transit and impairs release of vasoactive mediators into the bloodstream. PMID:11879594

  14. Paraneoplastic syndromes

    SciTech Connect

    Weller, R.E.

    1994-03-01

    Paraneoplastic syndromes (PNS) comprise a diverse group of disorders that are associated with cancer but unrelated to the size, location, metastases, or physiologic activities of the mature tissue of origin. They are remote effects of tumors that may appear as signs, symptoms, or syndromes which can mimic other disease conditions encountered in veterinary medicine. Recognition of PNS is valuable for several reasons: the observed abnormalities may represent tumor cell markers and facilitate early diagnosis of the tumor; they may allow assessment of premalignant states; they may aid in the search metastases; they may help quantify and monitor response to therapy; and, they may provide insight into the study of malignant transformation and oncogene expression. This review will concentrate on the pathophysiology, diagnosis, and treatment of some of the common PNS encountered in veterinary medicine.

  15. A Novel Mutation on RAF1 in Association with Fetal Findings Suggestive of Noonan Syndrome.

    PubMed

    Kneitel, Anna W; Norby, Audrey; Vettraino, Ivana; Treadwell, Marjorie C

    2015-11-01

    Noonan syndrome is a multisystem genetic disorder caused by genes encoding proteins involved in the RAS-MAPK pathway. Affected fetuses have variable presentations ranging from the absence of prenatal findings to increased nuchal fold, cystic hygromas, pleural effusions, cardiac malformations, or skin edema. We describe a male fetus who had features consistent with Noonan syndrome at the time of fetal anatomic survey, including hydrops and a possible cardiac defect. Subsequent scan revealed persistent bilateral pleural effusions (with predominance of lymphocytes). After bilateral thoracoamniotic shunt placement, the fetus did well and delivered at term. Prenatal testing revealed an S650F missense mutation in the RAF1 gene, which had not previously been associated with Noonan syndrome. PMID:26467173

  16. Central Pain Syndrome

    MedlinePLUS

    ... Enhancing Diversity Find People About NINDS NINDS Central Pain Syndrome Information Page Table of Contents (click to ... being done? Clinical Trials Organizations What is Central Pain Syndrome? Central pain syndrome is a neurological condition ...

  17. Carpal tunnel syndrome

    MedlinePLUS

    ... pain, numbness, tingling, or weakness. This is called carpal tunnel syndrome. ... Some people who develop carpal tunnel syndrome were born with a small carpal tunnel. Carpal tunnel syndrome can also be caused by making the same hand and ...

  18. Carpal Tunnel Syndrome

    MedlinePLUS

    ... Career Awards Enhancing Diversity Find People About NINDS Carpal Tunnel Syndrome Fact Sheet See a list of all NINDS ... a key nerve in the wrist. What is carpal tunnel syndrome? Carpal tunnel syndrome occurs when the median nerve, ...

  19. Down Syndrome: Eye Problems

    MedlinePLUS

    ... eye problems. Do children with Down syndrome have eye problems? Individuals with Down syndrome are at increased ... When should children with Down syndrome receive an eye exam? The American Academy of Pediatrics recommends that ...

  20. Toxic Shock Syndrome

    MedlinePLUS

    ... Toxic Shock Syndrome KidsHealth > Teens > Sexual Health > For Girls > Toxic Shock Syndrome Print A A A Text ... Is Toxic Shock Syndrome? If you're a girl who's had her period, you may have heard ...

  1. Complex Regional Pain Syndrome

    MedlinePLUS

    ... NINDS Complex Regional Pain Syndrome Information Page Synonym(s): Reflex Sympathetic Dystrophy Syndrome, Causalgia Condensed from Complex Regional ... Tel: 813-907-2312 Fax: 813-830-7446 Reflex Sympathetic Dystrophy Syndrome Association (RSDSA) P.O. Box ...

  2. Reye syndrome - resources

    MedlinePLUS

    Resources - Reye syndrome ... The following organizations are good resources for information on Reye Syndrome : National Reye's Syndrome Foundation, Inc. - www.reyessyndrome.org National Institute of Neurologic Disorders and Stroke - www. ...

  3. Ramsay Hunt syndrome

    MedlinePLUS

    Hunt syndrome; Herpes oticus ... The varicella zoster virus that causes Ramsay Hunt syndrome is the same virus that causes chickenpox and shingles. In people with Ramsay Hunt syndrome, the virus is believed to infect the ...

  4. Heart and Down Syndrome

    MedlinePLUS

    ... Associated Conditions » The Heart & Down Syndrome The Heart & Down Syndrome Abnormalities of the cardiovascular system are common in ... the Most Common Heart Defects in Children With Down Syndrome? The most common defects are Atrioventricular Septal Defect ( ...

  5. Down Syndrome (For Parents)

    MedlinePLUS

    ... Kids Deal With Bullies Pregnant? What to Expect Down Syndrome KidsHealth > Parents > Diseases & Conditions > Genetic, Chromosomal & Metabolic Conditions > ... Screening and Diagnosis Resources That Can Help About Down Syndrome Down syndrome (DS), also called Trisomy 21, is ...

  6. National Down Syndrome Society

    MedlinePLUS

    donate Entire Site Down Syndrome Resources Ways to Give My Great Story Buddy Walk® Advocacy About NDSS The National Advocate for People with Down Syndrome Since 1979 National Down Syndrome Society 666 Broadway, ...

  7. What Causes Down Syndrome?

    MedlinePLUS

    ... Information Clinical Trials Resources and Publications What causes Down syndrome? Skip sharing on social media links Share this: ... Down Syndrome Registry? . Chromosomal Changes That Can Cause Down Syndrome Research shows that three types of chromosomal changes ...

  8. Ectopic Cushing syndrome

    MedlinePLUS

    ... in which a tumor outside the pituitary or adrenal glands produces a hormone called adrenocorticotropic hormone (ACTH). ... syndrome include: Cushing disease Cushing syndrome caused by adrenal tumor Exogenous Cushing syndrome

  9. Sexuality and Down Syndrome

    MedlinePLUS

    ... Down Syndrome Managing Behavior Sexuality Sexuality & Down Syndrome Social and Sexual Education Recreation & Friendship Education Education & Down Syndrome Schooling from Preschool to Age 21 Implementing Inclusion College & Postsecondary Options Looking for Postsecondary Education O' ...

  10. Sturge-Weber Syndrome

    MedlinePLUS

    ... Enhancing Diversity Find People About NINDS NINDS Sturge-Weber Syndrome Information Page Synonym(s): Encephalotrigeminal Angiomatosis Table of ... being done? Clinical Trials Organizations What is Sturge-Weber Syndrome? Sturge-Weber syndrome is a neurological disorder ...

  11. Tethered Spinal Cord Syndrome

    MedlinePLUS

    ... Enhancing Diversity Find People About NINDS NINDS Tethered Spinal Cord Syndrome Information Page Table of Contents (click to ... being done? Clinical Trials Organizations What is Tethered Spinal Cord Syndrome? Tethered spinal cord syndrome is a neurological ...

  12. Restless Legs Syndrome

    MedlinePLUS

    ... Legs Syndrome Overview What is restless legs syndrome (RLS)? Restless legs syndrome (also called RLS) is a condition in which your legs feel ... age and becomes a problem for older adults. RLS can make sleeping and traveling difficult and uncomfortable. ...

  13. Learning about Down Syndrome

    MedlinePLUS

    ... for the mothers of infants with Down syndrome. Intelligence in individuals with Down syndrome ranges from low ... is not possible to tell the level of intelligence a baby with Down syndrome will have. All ...

  14. Startle syndromes.

    PubMed

    Bhidayasiri, Roongroj; Truong, Daniel D

    2011-01-01

    Startle refers to a sudden involuntary movement of the body in response to a surprising and unexpected stimulus. It is a fast twitch of facial and body muscles evoked by a sudden and intense tactile, visual, or acoustic stimulus. While startle can be considered to be a protective function against injury, startle syndromes are abnormal responses to startling events, consisting of three heterogeneous groups of disorders. The first is hyperekplexia, characterized by brisk and generalized startle in response to trivial stimulation. The major form of hereditary hyperekplexia has a genetic basis, frequently due to mutations in the ?1 subunit of the glycine receptor (GLRA1) on chromosome 5q. In the second group, normal startle induces complex but stereotyped motor and/or behavioral abnormalities lasting several seconds, termed as startle epilepsy. It usually occurs in the setting of severe brain damage, particularly perinatal hypoxia. The third group is characterized by nonhabituating hyperstartling, provoked by loud noises, sudden commands, or gestures. The intensity of startle response tends to increase with frequency of stimulation, which often leads to injury. Interestingly, its occurrence is restricted to certain social or ethnic groups in different parts of the world, such as jumping Frenchmen of Maine among Franco-Canadian lumberjack communities, and Latah in Southeast Asia. So far, no neurological abnormalities have been reported in association with these neuropsychiatric startle syndromes. In this chapter, the authors discuss the clinical presentation, physiology, and the neuronal basis of the normal human startle as well as different groups of abnormal startle syndromes. The aim is to provide an overview of hyperstartling with some diagnostic hints and the distinguishing features among these syndromes. PMID:21496599

  15. [Nager syndrome].

    PubMed

    Opitz, C; Shetty, D K; Witkowski, R

    1998-05-01

    In this publication, Nager syndrome was analyzed in the literature and six patients from our clinic were evaluated in relation to symptoms, etiology and pathogenesis. The diseases to be considered when making a differential diagnosis are pointed out. Clarification of the etiology is still pending. Molecular genetic research in these patients is possibly the key for new findings. A case report illustrates the results of interdisciplinary treatment by the surgeon and orthodontist. Possibilities and problems in relation to therapy are demonstrated. PMID:9658800

  16. Brugada Syndrome

    PubMed Central

    ANTZELEVITCH, CHARLES

    2007-01-01

    First introduced as a new clinical entity in 1992, the Brugada syndrome is associated with a relatively high risk of sudden death in young adults, and occasionally in children and infants. Recent years have witnessed a striking proliferation of papers dealing with the clinical and basic aspects of the disease. Characterized by a coved-type ST-segment elevation in the right precordial leads of the electrocardiogram (ECG), the Brugada syndrome has a genetic basis that thus far has been linked only to mutations in SCN5A, the gene that encodes the ?-subunit of the sodium channel. The Brugada ECG is often concealed, but can be unmasked or modulated by a number of drugs and pathophysiological states including sodium channel blockers, a febrile state, vagotonic agents, tricyclic antidepressants, as well as cocaine and propranolol intoxication. Average age at the time of initial diagnosis or sudden death is 40 ± 22, with the youngest patient diagnosed at 2 days of age and the oldest at 84 years. This review provides an overview of the clinical, genetic, molecular, and cellular aspects of the Brugada syndrome, incorporating the results of two recent consensus conferences. Controversies with regard to risk stratification and newly proposed pharmacologic strategies are discussed. PMID:17038146

  17. Nutcracker syndrome

    PubMed Central

    Gulleroglu, Kaan; Gulleroglu, Basak; Baskin, Esra

    2014-01-01

    The nutcracker phenomenon [left renal vein (LRV) entrapment syndrome] refers to compression of the LRV most commonly between abdominal aorta and superior mesenteric artery. Term of nutcracker syndrome (NCS) is used for patients with clinical symptoms associated with nutcracker anatomy. LRV entrapment divided into 2 types: anterior and posterior. Posterior and right-sided NCSs are rare conditions. The symptoms vary from asymptomatic hematuria to severe pelvic congestion. Symptoms include hematuria, orthostatic proteinuria, flank pain, abdominal pain, varicocele, dyspareunia, dysmenorrhea, fatigue and orthostatic intolerance. Existence of the clinical features constitutes a basis for the diagnosis. Several imaging methods such as Doppler ultrasonography, computed tomography angiography, magnetic resonance angiography and retrograde venography are used to diagnose NCS. The management of NCS depends upon the clinical presentation and the severity of the LRV hypertension. The treatment options are ranged from surveillance to nephrectomy. Treatment decision should be based on the severity of symptoms and their expected reversibility with regard to patient’s age and the stage of the syndrome. PMID:25374822

  18. Gitelman syndrome.

    PubMed

    Cotovio, Patricia; Silva, Cristina; Oliveira, Nuno; Costa, Fátima

    2013-01-01

    Hypokalaemia is a common clinical disorder, the cause of which can usually be determined by the patient's clinical history. Gitelman syndrome is an inherited tubulopathy that must be considered in some settings of hypokalaemia. We present the case of a 60-year-old male patient referred to our nephrology department for persistent hypokalaemia. Clinical history was positive for symptoms of orthostatic hypotension and polyuria. There was no history of drugs consumption other than potassium supplements. Complementary evaluation revealed hypokalaemia (2.15 mmol/l), hypomagnesaemia (0.29 mmol/l), metabolic alkalosis (pH 7.535, bicarbonate 34.1 mmol/l), hypereninaemia (281.7 U/ml), increased chloride (160 mmol/l) and sodium (126 mmol/l) urinary excretion and reduced urinary calcium excretion (0.73 mmol/l). Renal function, remainder serum and urinary ionogram, and renal ultrasound were normal. A diagnosis of Gitelman syndrome was established. We reinforced oral supplementation with potassium chloride and magnesium sulfate. Serum potassium stabilised around 3 mmol/l. The aim of our article is to remind Gitelman syndrome in the differential diagnosis of persistent hypokalaemia. PMID:23585506

  19. Anserine syndrome.

    PubMed

    Helfenstein, Milton; Kuromoto, Jorge

    2010-01-01

    Knee pain is a common complaint in clinical practice, and pes anserinus tendino-bursitis syndrome (PATB) has been frequently diagnosed based only on clinical features that may cause equivocal interpretations. Patients complain of characteristic spontaneous medial knee pain with tenderness in the inferomedial aspect of the joint. Studies with different imaging modalities have been undertaken during the last years to identify whether these patients suffer from bursitis, tendinitis, or both. Nevertheless, little is known regarding the structural defect responsible for this disturbance. Due to these problems and some controversies, we suggest the term "anserine syndrome" for this condition. Diabetes Mellitus is a known predisposing factor for this syndrome. Overweight and osteoarthritis seem to represent additional risk factors; however, their role in the pathophysiology of the disease is not yet understood. Treatment includes non-steroidal anti-inflammatory drugs, physiotherapy, and injections of corticosteroid, with highly variable responses, from 10 days to 36 months to achieve recovery. The lack of knowledge about its epidemiological, etiological, and pathophysiological aspects requires future studies for this common and intriguing disorder. PMID:21125167

  20. Morvan Syndrome

    PubMed Central

    Maskery, Mark; Chhetri, Suresh K.; Dayanandan, Rejith; Gall, Claire

    2016-01-01

    A 74-year-old gentleman was admitted to the regional neurosciences center with encephalopathy, myokymia, and dysautonomia. Chest imaging had previously identified an incidental mass in the anterior mediastinum, consistent with a primary thymic tumor. Antivoltage-gated potassium channel (anti-VGKC) antibodies were positive (titer 1273 pmol/L) and he was hypokalemic. Electromyogram and nerve conduction studies were in keeping with peripheral nerve hyperexcitability syndrome, and an electroencephalogram was consistent with encephalopathy. A diagnosis of Morvan syndrome was made, for which he was initially treated with high-dose steroids, followed by a 5-day course of intravenous immunoglobulin (IVIG) therapy. He also underwent thymectomy, followed by a postexcision flare of his symptoms requiring intensive care management. Further steroids, plasmapheresis, and IVIG achieved stabilization of his clinical condition, enabling transfer for inpatient neurorehabilitation. He was commenced on azathioprine and a prolonged oral steroid taper. A subsequent presumed incipient relapse responded well to further IVIG treatment. This case report documents a thymoma-associated presentation of anti-VGKC-positive Morvan syndrome supplemented by patient and carer narrative and video, both of which provide valuable further insights into this rare disorder. There are a limited number of publications surrounding this rare condition available in the English literature. This, combined with the heterogenous presentation, association with underlying malignancy, response to treatment, and prognosis, provides a diagnostic challenge. However, the association with anti-VGKC antibody-associated complexes and 2 recent case series have provided some scope for both accurate diagnosis and management.

  1. Reversible severe bilateral visual loss in an unusual case of bilateral lateral geniculate myelinolysis during acute pancreatitis.

    PubMed

    Viloria, Alejandro; Jimenez, Beatriz; Palacín, Marta

    2015-01-01

    A 40-year-old man was diagnosed with pancreatitis following cholecystectomy. During hospitalisation, he reported bilateral acute vision loss. His best-corrected visual acuity (BCVA) was counting fingers in the right eye and 20/200 in the left eye. Ocular fundus examination and optical coherence tomography revealed a slight alteration in the retinal nerve fibres in the nasal macular region. Automated perimetry revealed bilateral visual field defects affecting both temporal and nasal hemifields in a predominantly nasal distribution, and brain MRI confirmed symmetrical lesions within both lateral geniculate nuclei. BCVA was gradually recovered, reaching 20/20 within 6?weeks. PMID:26718705

  2. Thrombocytopenia-absent radius syndrome: a clinical genetic study

    PubMed Central

    Greenhalgh, K; Howell, R; Bottani, A; Ancliff, P; Brunner, H; Verschuuren-Bemel..., C; Vernon, E; Brown, K; Newbury-Ecob, R

    2002-01-01

    The thrombocytopenia-absent radius (TAR) syndrome is a congenital malformation syndrome characterised by bilateral absence of the radii and a thrombocytopenia. The lower limbs, gastrointestinal, cardiovascular, and other systems may also be involved. Shaw and Oliver in 1959 were the first to describe this condition, but it was Hall et al in 1969 who reported the first major series of patients. Since then most reports have been based on single or small numbers of cases. We report the results of a clinical study looking at the phenotype of 34 patients with TAR syndrome. All cases had a documented thrombocytopenia and bilateral radial aplasia, 47% had lower limb anomalies, 47% cow's milk intolerance, 23% renal anomalies, and 15% cardiac anomalies. Congenital anomalies not previously described in association with TAR syndrome included facial capillary haemangiomata, intracranial vascular malformation, sensorineural hearing loss, and scoliosis. Karyotype analysis, chromosome breakage studies including premature centromeric separation and fluorescence in situ hybridisation studies looking for a deletion of chromosome 22q11 were undertaken. Two abnormal karyotypes were identified. PMID:12471199

  3. Baraitser and Winter syndrome with growth hormone deficiency

    PubMed Central

    Chentli, Farida; Zellagui, Hadjer

    2014-01-01

    Baraitser–Winter syndrome (BWS), first reported in 1988, is apparently due to genetic abnormalities that are still not well-defined, although many gene abnormalities are already discovered and de novo missense changes in the cytoplasmic actin-encoding genes (called ACTB and ACTG1) have been recently discovered. The syndrome combines facial and cerebral malformations. Facial malformations totally or partially present in the same patient are: Iris coloboma, bilateral ptosis, hypertelorism, broad nasal bridge, and prominent epicanthic folds. The various brain malformations are probably responsible for growth and mental retardation. To the best of our knowledge, the syndrome is very rare as few cases have been reported so far. Our aim was to describe a child with a phenotype that looks like BWS with proved partial growth hormone (GH) deficiency which was not reported before. A girl aged 7-year-old of consanguineous parents was referred for short stature and mental retardation. Clinical examination showed dwarfism and a delay in her mental development. Other clinical features included: Strabismus, epicanthic folds, broad nasal bridge, and brain anomalies such as lissencephaly, bilateral hygroma, and cerebral atrophy. Hormonal assessment showed partial GH deficiency without other endocrine disorders. Our case looks exactly like BWS. However, apart from facial and cerebral abnormalities, there is a partial GH deficiency which can explain the harmonious short stature. This case seems worth to be reported as it adds GH deficiency to the very rare syndrome. PMID:25624931

  4. Types of Myelodysplastic Syndromes

    MedlinePLUS

    ... Article Close Push escape to close saved articles window. My Saved Articles » My ACS » Myelodysplastic Syndromes + - Text Size Download Printable Version [PDF] » What Is Myelodysplastic Syndrome? TOPICS ...

  5. Bilateral Unknown Key-Share Attacks in Key Agreement Protocols

    E-print Network

    International Association for Cryptologic Research (IACR)

    Bilateral Unknown Key-Share Attacks in Key Agreement Protocols Liqun Chen Hewlett Unknown Key-Share (UKS) resilience is a basic security attribute in authenticated key agreement protocols, whereby two entities A and B should not be able to be coerced into sharing a key between them when in fact

  6. Bilateral Social Security Instruments Concluded between European Socialist Countries.

    ERIC Educational Resources Information Center

    Popescu, Andrei

    1982-01-01

    Presents a review of existing bilateral treaties, conventions, and agreements in the field of social policy concluded between European socialist countries. It summarizes their basic principles, their social security provisions (old-age benefit, employment injury benefits, cash benefits for sickness and maternity), and the provisions concerning…

  7. Fulbright-Hays Seminars Abroad Program and Special Bilateral Projects

    ERIC Educational Resources Information Center

    Office of Postsecondary Education, US Department of Education, 2012

    2012-01-01

    The Fulbright-Hays Seminars Abroad Program and Special Bilateral Projects provides short-term study and travel seminars abroad for U.S. educators in the social sciences and humanities for the purpose of improving their understanding and knowledge of the people and culture of other countries. There are approximately 10 seminars with 16 participants…

  8. INTRODUCTION Development of the nervous system in a bilaterally symmetric

    E-print Network

    Crews, Stephen

    INTRODUCTION Development of the nervous system in a bilaterally symmetric organism critically of Biologists Limited 1994 Central nervous system midline cells constitute a discrete group of Drosophila, the midline cells display patterns of gene expression distinct from the lateral central nervous system

  9. Bilateral Total Optic Atrophy Due to Transdermal Methanol Intoxication

    PubMed Central

    ??can, Yalç?n; Co?kun, Çi?dem; Öner, Veysi; Türkçü, Fatih Mehmet; Ta?, Mehmet; Alaku?, Mehmet Fuat

    2013-01-01

    In this case report, we document a 54-year-old woman with total bilateral optic nerve atrophy after local application of methanol containing spirit. Almost all the reported cases of methanol intoxication in the literature are caused by oral ingestion. In this rare case, we present transdermal absorption of methanol that may cause irreversible blindness in addition to intracerebral lesions. PMID:23580862

  10. Bilateral Song Production in Domestic Canaries Roderick A. Suthers,1

    E-print Network

    Suthers, Roderick A.

    Bilateral Song Production in Domestic Canaries Roderick A. Suthers,1 Eric Vallet,2 Aure´ lie Tanvez 2004 ABSTRACT: We studied the mechanism of song production in the outbred common or domestic canary song. Song production by do- mestic canaries is not strongly lateralized as it is in the conspecific

  11. Acute kidney injury due to bilateral ureteral obstruction in children

    PubMed Central

    Bianchi, Daniele; Vespasiani, Giuseppe; Bove, Pierluigi

    2014-01-01

    Bilateral ureteral obstruction in children is a rare condition arising from several medical or surgical pictures. It needs to be promptly suspected in order to attempt a quick renal function recovery. In this paper we concentrated on uncommon causes of obstruction, with the aim of giving a summary of such multiple, rare and heterogeneous conditions joint together by the common denominator of sudden bilateral ureteral obstruction, difficult to be suspected at times. Conversely, typical and well-known diseases have been just run over. We considered pediatric cases of ureteral obstruction presenting as bilateral, along with some cases which truly appeared as single-sided, because of their potential bilateral presentation. We performed a review of the literature by a search on PubMed, CrossRef Metadata Search, internet and reference lists of single articles updated to May 2014, with no time limits in the past. Given that we deal with rare conditions, we decided to include also papers in non-English languages, published with an English abstract. For the sake of clearness, we divided our research results into 8 categories: (1) urolithiasis; (2) congenital urinary tract malformations; (3) immuno-rheumatologic causes of ureteral obstruction; (4) ureteral localization of infections; (5) other systemic infective causes of ureteral obstructions; (6) neoplastic intrinsic ureteral obstructions; (7) extrinsic ureteral obstructions; and (8) iatrogenic trigonal obstruction or inflammation. Of course, different pathogenic mechanisms underlay those clinical pictures, partly well-known and partly not completely understood. PMID:25374811

  12. Reduced Misinformation Effects Following Saccadic Bilateral Eye Movements

    ERIC Educational Resources Information Center

    Parker, Andrew; Buckley, Sharon; Dagnall, Neil

    2009-01-01

    The effects of saccadic bilateral (horizontal) eye movements on memory for a visual event narrative were investigated. In the study phase, participants were exposed to a set of pictures accompanied by a verbal commentary describing the events depicted in the pictures. Next, the participants were asked either misleading or control questions about…

  13. PRECISION OF SINGLE VERSUS BILATERAL HIP BONE MINERAL DENSITY SCANS

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Dual-energy X-ray absorptiometry (DXA) is a precise, fast, and noninvasive method to measure bone mineral density (BMD) and body composition. Software that integrates the results of bilateral DXA hip scans has recently become available. The present study was undertaken to determine and compare the...

  14. Origins of Bilateral Symmetry: Hox and Dpp Expression

    E-print Network

    Finnerty, John R.

    of bilateral symmetry. Although animals of the phylum Cnidaria are not within the Bilateria, some arose before the evolutionary split of Cnidaria and Bilateria. The Bilateria is an evolutionary lineage is the phylum Cnidaria (sea anem- ones, corals, hydras, and jellyfishes). Mod- ern cnidarians resemble

  15. Bilateral internuclear ophthalmoplegia after intrathecal chemotherapy and cranial irradiation

    SciTech Connect

    Lepore, F.E.; Nissenblatt, M.J.

    1981-12-01

    A 26-year-old man developed transient bilateral internuclear ophthalmoplegia with exotropia after cranial irradiation and intrathecal administration of methotrexate for lymphoma. Resolution of the ophthalmoplegia and the decrease in abnormally high levels of cerebrospinal fluid myelin basic protein after discontinuation of intrathecal medication suggested demyelination from chemotherapy and irradiation.

  16. Bilateral iliac arterial thrombosis in an alpaca (Vicugna pacos) cria

    PubMed Central

    Schaeffer, Joshua W.; Middleton, John R.; Bozynski, Chantelle C.; Shaw, Daniel P.

    2012-01-01

    A 3-month-old male alpaca was presented for acute onset of non-weight-bearing left hind limb lameness. Antemortem diagnostics revealed a mass to the right of the urinary bladder and no blood flow in the left femoral artery. Necropsy revealed bilateral iliac arterial thrombi and an abscess near the urinary bladder. PMID:23450866

  17. Age-Related Differences in Bilateral Asymmetry in Cycling Performance

    ERIC Educational Resources Information Center

    Liu, Ting; Jensen, Jody L.

    2012-01-01

    Bilateral asymmetry, a form of limb laterality in the context of moving two limbs, emerges in childhood. Children and adults show lateral preference in tasks that involve the upper and lower limbs. The importance of research in limb laterality is the insight it could provide about lateralized functions of the cerebral hemispheres. Analyzing…

  18. Bilateral oligopoly in pollution permit markets - experimental evidence

    Technology Transfer Automated Retrieval System (TEKTRAN)

    We experimentally investigate behavior in a bilateral oligopoly using a supply function equilibria model (Klemper and Meyer 1989; Hendricks and McAfee 2010; Malueg and Yates 2009). We focus on the role that market size and the degree of firm heterogeneity have on the market equilibrium. Our results ...

  19. Bayer bilateral denoising on TriMedia3270

    NASA Astrophysics Data System (ADS)

    Phelippeau, H.; Akil, M.; Dias Rodrigues, B.; Talbot, H.; Bara, S.

    2009-02-01

    Digital cameras are now commonly included in several digital devices such as mobile phones. They are present everywhere and have become the principal image capturing tool. Inherent to light and semiconductors properties, sensor noise [10] continues to be an important factor of image quality [12], especially in low light conditions. Removing the noise with mathematical solutions appears thus unavoidable to obtain an acceptable image quality. However, embedded devices are limited by processing capabilities and power consumption and thus cannot make use of the full range of complex mathematical noise removing solutions. The bilateral filter [6] appears to be an interesting compromise between implementation complexity and noise removing performances. Especially, the Bayer [5] bilateral filter proposed in [11] is well adapted for single sensor devices. In this paper, we simulate and optimize the Bayer bilateral filter execution on a common media-processor: the TM3270 [4] from the NXP Semiconductors TriMedia family. To do so we use the TriMedia Compilation System (TCS). We applied common optimization techniques (such as LUT, loop unrolling, convenient data type representation) as well as custom TriMedia operations. We finally propose a new Bayer bilateral filter formulation dedicated to the TM3270 architecture that yields an execution improvement of 99.6% compared to the naÃve version. This improvement results in real-time video processing at VGA resolution at the 350MHz clock rate.

  20. Bilateral Matched-Impedance Teleoperation with Application to Excavator Control

    E-print Network

    Salcudean, Tim

    Bilateral Matched-Impedance Teleoperation with Application to Excavator Control S.E. Salcudean, K and slave impedances to match sti and soft environmentsand to interpolate between them is presented impedance to that transmitted to the operator's hand 1 . Studies have shown that to achieve transparency

  1. Binaural Unmasking with Bilateral Cochlear Implants CHRISTOPHER J. LONG,1

    E-print Network

    Litovsky, Ruth

    Binaural Unmasking with Bilateral Cochlear Implants CHRISTOPHER J. LONG,1 ROBERT P. CARLYON,1 RUTH 100,000 deaf patients worldwide have had their hearing restored by a cochlear implant (CI) fitted of binaural deprivation. Keywords: cochlear implants, binaural hearing, masking level difference, signal

  2. Sequential bilateral cochlear implantation in children B. Petersa,*, R. Litovskyb

    E-print Network

    Litovsky, Ruth

    Sequential bilateral cochlear implantation in children B. Petersa,*, R. Litovskyb , J. Lakea , A and the ability to localize the source of sounds. Patients who have undergone unilateral cochlear implantation the degree to which similar benefits are realized by children who receive a second cochlear implant after

  3. Irritable Bowel Syndrome in female patients is associated with alterations in structural brain networks

    PubMed Central

    Labus, Jennifer; Dinov, Ivo D.; Jiang, Zhiguo; Ashe-McNalley, Cody; Zamanyan, Alen; Shi, Yonggang; Hong, Jui-Yang; Gupta, Arpana; Tillisch, Kirsten; Ebrat, Bahar; Hobel, Sam; Gutman, Boris A.; Joshi, Shantanu; Thompson, Paul M.; Toga, Arthur W.; Mayer, Emeran A.

    2014-01-01

    Alterations in gray matter (GM) density/ volume and cortical thickness (CT) have been demonstrated in small and heterogeneous samples of subjects with different chronic pain syndromes, including irritable bowel syndrome (IBS). Aggregating across 7 structural neuroimaging studies conducted at UCLA between August 2006 and April 2011, we examined group differences in regional GM volume in 201 predominantly premenopausal female subjects (82 IBS, mean age: 32 ± 10 SD, 119 Healthy Controls [HCs], 30± 10 SD). Applying graph theoretical methods and controlling for total brain volume, global and regional properties of large-scale structural brain networks were compared between IBS and HC groups. Relative to HCs, the IBS group had lower volumes in bilateral superior frontal gyrus, bilateral insula, bilateral amygdala, bilateral hippocampus, bilateral middle orbital frontal gyrus, left cingulate, left gyrus rectus, brainstem, and left putamen. Higher volume was found for the left postcentral gyrus. Group differences were no longer significant for most regions when controlling for Early Trauma Inventory global score with the exception of the right amygdala and the left post central gyrus. No group differences were found for measures of global and local network organization. Compared to HCs, the right cingulate gyrus and right thalamus were identified as significantly more critical for information flow. Regions involved in endogenous pain modulation and central sensory amplification were identified as network hubs in IBS. Overall, evidence for central alterations in IBS was found in the form of regional GM volume differences and altered global and regional properties of brain volumetric networks. PMID:24076048

  4. Localization ability with bimodal hearing aids and bilateral cochlear implants

    NASA Astrophysics Data System (ADS)

    Seeber, Bernhard U.; Baumann, Uwe; Fastl, Hugo

    2004-09-01

    After successful cochlear implantation in one ear, some patients continue to use a hearing aid at the contralateral ear. They report an improved reception of speech, especially in noise, as well as a better perception of music when the hearing aid and cochlear implant are used in this bimodal combination. Some individuals in this bimodal patient group also report the impression of an improved localization ability. Similar experiences are reported by the group of bilateral cochlear implantees. In this study, a survey of 11 bimodally and 4 bilaterally equipped cochlear implant users was carried out to assess localization ability. Individuals in the bimodal implant group were all provided with the same type of hearing aid in the opposite ear, and subjects in the bilateral implant group used cochlear implants of the same manufacturer on each ear. Subjects adjusted the spot of a computer-controlled laser-pointer to the perceived direction of sound incidence in the frontal horizontal plane by rotating a trackball. Two subjects of the bimodal group who had substantial residual hearing showed localization ability in the bimodal configuration, whereas using each single device only the subject with better residual hearing was able to discriminate the side of sound origin. Five other subjects with more pronounced hearing loss displayed an ability for side discrimination through the use of bimodal aids, while four of them were already able to discriminate the side with a single device. Of the bilateral cochlear implant group one subject showed localization accuracy close to that of normal hearing subjects. This subject was also able to discriminate the side of sound origin using the first implanted device alone. The other three bilaterally equipped subjects showed limited localization ability using both devices. Among them one subject demonstrated a side-discrimination ability using only the first implanted device.

  5. Conversion, dissociative amnesia, and Ganser syndrome in a case of "chameleon" syndrome: anatomo-functional findings.

    PubMed

    Magnin, Eloi; Thomas-Antérion, Catherine; Sylvestre, Geraldine; Haffen, Sophie; Magnin-Feysot, Virgile; Rumbach, Lucien

    2014-01-01

    The term "chameleon" was first used in the seventeenth century by Sydenham to describe a patient with a protean semiology. We report a single case of "chameleon" syndrome that challenges the current international criteria for somatoform disorders, dissociative amnesia, and Ganser syndrome. The florid symptoms were as follows: anterograde and retrograde amnesia (including semantic, episodic, and procedural deficits), loss of identity, atypical neuropsychological impairment (approximate answers), left sensitive and motor deficit, and left pseudochoreoathetosis movement disorders. Additional behavioral disorders included the following: anxiety, clouded consciousness, hallucinations, and "belle indifference". A single photon emission computed tomography examination showed bilateral temporal, frontal and a right caudate (in the head of the caudate nucleus) hypoperfusion concordant with a common mechanism of repression in these disorders. PMID:23075263

  6. Using blind source separation techniques to improve speech recognition in bilateral cochlear implant patients

    E-print Network

    Kokkinakis, Kostas; Loizou, Philipos C.

    2008-06-05

    . In this work, a different approach to bilateral processing is explored based on blind source separation (BSS) by utilizing two implants driven by a single processor. Sentences corrupted by interfering speech or speech-shaped noise are presented to bilateral...

  7. Non Syndromic Bilateral Microdontia of Maxillary Second Molars: A Very Rare Finding

    PubMed Central

    Chander, Subhash; Ahluwalia, Amrit Singh; Chinna, Harleen

    2015-01-01

    Dental anomalies are the formative defects caused by genetic disturbances or environmental factors during tooth morphogenesis. The term microdontia is defined as the condition of having abnormally small teeth. Clinically, microdontia in the permanent dentition, excluding the third molars, is found in 0.8-8.4% of the population. One of the commonest forms of localized microdontia is that which affects the maxillary lateral incisor, a condition called Peg laterals. The next tooth which can be affected is the third molars. Few cases of microdontia in canines have been reported. Localised microdontia of maxillary second molar has never been reported in literature before. PMID:26023663

  8. Non syndromic bilateral microdontia of maxillary second molars: a very rare finding.

    PubMed

    Hans, Manoj Kumar; Chander, Subhash; Ahluwalia, Amrit Singh; Chinna, Harleen

    2015-04-01

    Dental anomalies are the formative defects caused by genetic disturbances or environmental factors during tooth morphogenesis. The term microdontia is defined as the condition of having abnormally small teeth. Clinically, microdontia in the permanent dentition, excluding the third molars, is found in 0.8-8.4% of the population. One of the commonest forms of localized microdontia is that which affects the maxillary lateral incisor, a condition called Peg laterals. The next tooth which can be affected is the third molars. Few cases of microdontia in canines have been reported. Localised microdontia of maxillary second molar has never been reported in literature before. PMID:26023663

  9. Disseminated bilateral chorioretinitis due to Histoplasma capsulatum in a patient with the acquired immunodeficiency syndrome.

    PubMed

    Macher, A; Rodrigues, M M; Kaplan, W; Pistole, M C; McKittrick, A; Lawrinson, W E; Reichert, C M

    1985-08-01

    A 31-year-old white male homosexual was healthy until March 1984, when he developed Pneumocystis carinii pneumonia, which resolved with treatment. In April 1984 he developed fever, followed by hepatosplenomegaly, headaches, blurred vision, pancytopenia and pulmonary infiltrates. On June 11, intracytoplasmic yeast were noted within leukocytes on a peripheral blood smear, and amphotericin B was started. The patient developed progressive respiratory and renal insufficiency and died on June 13, 1984. Autopsy histopathology demonstrated disseminated histoplasmosis and Histoplasma capsulatum was cultured from numerous tissues. Ocular histopathologic examination using special fungal stains and electron microscopy revealed numerous budding yeasts characteristic of Histoplasma capsulatum in the choroid, retina and central retinal vein. Their identification as H. capsulatum was confirmed by immunofluorescent staining. PMID:2413418

  10. Branchio-oto-renal syndrome plus; a contiguous gene constellation of congenital anomalies?

    SciTech Connect

    Kelly, T.E.

    1994-09-01

    A term female infant was referred to the University Hospital because of respiratory distress secondary to bilateral choanal stenosis. Her examination revealed bilateral pre-auricular pits, branchial fistulae, cupped shaped ears, and bilateral athelia. She failed ABR screening; her creatinine was elevated to 1.5 mgs% and renal ultra-sonography showed reduced kidney size bilaterally. She was the product of her mother`s third pregnancy. The first produced a now normal 5 year old son. The second pregnancy was complicated by oligohydramnios and resulted in a premature delivery at 27 weeks gestation. The infant expired secondary to pulmonary hypoplasia. The mother had bilateral neurosensory deafness, pre-auricular pits, cupped shaped ears, lacrimal stenois and bilateral athelia. She wore dentures having earlier been diagnosed with dentogeneis imperfecta. She was shorter than her three normal sisters and had experienced academic problems throughout her school years. The maternal grandfather had an adult onset neurosensory hearing loss, but he and the maternal grandmother exhibited no other features of the BOR syndrome. Althelia was present only in the mother and daughter. The mother clearly has BOR syndrome transmitted to one, and possibly two, of her three offspring. The additional features of athelia, choanal stenosis and dentogenesis imperfecta are thought to represent additional autosomal dominant traits. Greenberg described an infant with athelia and choanal atresia. By family linkage studies, the BOR syndrome has been mapped to 8q13-21 with no recombination observed with loci D8S530 and D8S279. Given a normal prophase karyotype in the proband, it is speculated that a sub-microscopic deletion at 8q13-21 is the likely basis for the constellation of birth defects seen in this mother and daughter. Analysis of D8S530 and D8S279 is currently underway in this family.

  11. A Longitudinal Study in Adults with Sequential Bilateral Cochlear Implants: Time Course for Individual Ear and Bilateral Performance

    ERIC Educational Resources Information Center

    Reeder, Ruth M.; Firszt, Jill B.; Holden, Laura K.; Strube, Michael J.

    2014-01-01

    Purpose: The purpose of this study was to examine the rate of progress in the 2nd implanted ear as it relates to the 1st implanted ear and to bilateral performance in adult sequential cochlear implant recipients. In addition, this study aimed to identify factors that contribute to patient outcomes. Method: The authors performed a prospective…

  12. Cushing’s syndrome: epidemiology and developments in disease management

    PubMed Central

    Sharma, Susmeeta T; Nieman, Lynnette K; Feelders, Richard A

    2015-01-01

    Cushing’s syndrome is a rare disorder resulting from prolonged exposure to excess glucocorticoids. Early diagnosis and treatment of Cushing’s syndrome is associated with a decrease in morbidity and mortality. Clinical presentation can be highly variable, and establishing the diagnosis can often be difficult. Surgery (resection of the pituitary or ectopic source of adrenocorticotropic hormone, or unilateral or bilateral adrenalectomy) remains the optimal treatment in all forms of Cushing’s syndrome, but may not always lead to remission. Medical therapy (steroidogenesis inhibitors, agents that decrease adrenocorticotropic hormone levels or glucocorticoid receptor antagonists) and pituitary radiotherapy may be needed as an adjunct. A multidisciplinary approach, long-term follow-up, and treatment modalities customized to each individual are essential for optimal control of hypercortisolemia and management of comorbidities. PMID:25945066

  13. Multiorgan disorder syndrome (MODS) in an octagenarian suggests mitochondrial disorder.

    PubMed

    Finsterer, Josef; Bastovansky, Adam

    2015-09-01

    Non-syndromic, multi-organ mitochondrial disorders (MIDs) are frequently missed if treating physicians are not aware of them. We report a 85 years old Caucasian male, referred for tonic-clonic seizures, presenting with a plethora of abnormalities, including neurodermitis, atopic dermatitis, diabetes, hypertension, renal insufficiency, non-specific colitis, urine bladder lithiasis, bilateral cataracts, atrial fibrillation, diverticulosis, polyneuropathy, vitamin-D-deficiency, renal cysts, left anterior hemi-block, right bundle branch block, pulmonary artery hypertension, and heart failure. Neurological investigations revealed ptosis, quadriparesis, fasciculations, dysarthria, dysdiadochokinesia, tremor, hyperkinesia, ataxia, leukoencephalopathy, and basal ganglia calcification. Based upon this combination of abnormalities a non-syndromic mitochondrial multi-organ disorder syndrome (MIMODS, encephalo-myo-cardiomyopathy) was diagnosed. PMID:26530206

  14. Ellis-van Creveld syndrome in an Indian child: a case report

    PubMed Central

    Jagadishchandra, H.; Rao, Prasanna Kumar; Chatra, Laxmikanth

    2011-01-01

    Ellis-van Creveld syndrome is a rare congenital genetic disorder having autosomal recessive inheritance. It is a syndrome affecting the Amish population of Pennsylvania in USA with prevalence rate of 1/5,000 live at birth. In non-Amish population, the birth prevalence is 7/1,000,000. The syndrome is characterized by bilateral postaxial polydactyly of the hands, chondrodysplasia of long bones resulting in acromesomelic dwarfism, ectodermal dysplasia affecting nails as well as teeth and congenital heart malformation. There were very rare reports of this syndrome in dentistry. The present case focuses on the striking and constant oral findings of these patients, which are the main diagnostic features of this syndrome. Since the oral manifestations affect the esthetic, speech, and jaw growth of the child, the dentists have an important role to play in proper management of such case. PMID:22232726

  15. A newborn with acanthosis nigricans: can it be Crouzon syndrome with acanthosis nigricans?

    PubMed

    Sharda, Sheetal; Panigrahi, Inusha; Gupta, Kirti; Singhi, Sunit; Kumar, Rakesh

    2010-01-01

    Crouzon syndrome is a craniosynostosis syndrome, characterized by cloverleaf skull, hypertelorism, exophthalmos, external strabismus, parrot-beaked nose, short upper lip, hypoplastic maxilla, and mandibular prognathism. The 5% of individuals with Crouzon syndrome who have pigmentary changes in the skin are said to have Crouzon syndrome with acanthosis nigricans (CAN). Choanal atresia, hydrocephalus and the cranial features of Crouzon syndrome should suggest the diagnosis of CAN even before acanthosis appears. We present a 10-hour-old newborn who presented with bilateral choanal atresia, craniosynostosis and acanthosis nigricans. Molecular tests identified the FGFR3 Ala391Glu substitution confirming the diagnosis of CAN. Of the 35 cases of CAN reported in literature till date, only one child had acanthosis nigricans at birth. This is the first case from India to have been reported with this mutation. PMID:20199409

  16. [Hyperviscosity syndrome].

    PubMed

    Dumas, G; Merceron, S; Zafrani, L; Canet, E; Lemiale, V; Kouatchet, A; Azoulay, E

    2015-09-01

    Hyperviscosity syndrome is a life-threatening complication. Clinical manifestations include neurological impairment, visual disturbance and bleeding. Measurement of plasma or serum viscosity by a viscometer assesses the diagnosis. Funduscopic examination is a key exam because abnormalities are well-correlated with abnormal plasma viscosity. Etiologies are various but symptomatic hyperviscosity is more common in Waldenström's macroglobulinemia and multiple myeloma. Prompt treatment is needed: treatment of the underlying disease should be considered, but generally not sufficient. Symptomatic measures aim to not exacerbate blood viscosity while urgent plasmapheresis effectively reduces the paraprotein concentration and relieves symptoms. PMID:25778852

  17. Postmenopausal syndrome.

    PubMed

    Dalal, Pronob K; Agarwal, Manu

    2015-07-01

    Menopause is one of the most significant events in a woman's life and brings in a number of physiological changes that affect the life of a woman permanently. There have been a lot of speculations about the symptoms that appear before, during and after the onset of menopause. These symptoms constitute the postmenopausal syndrome; they are impairing to a great extent to the woman and management of these symptoms has become an important field of research lately. This chapter attempts to understand these symptoms, the underlying pathophysiology and the management options available. PMID:26330639

  18. Postmenopausal syndrome

    PubMed Central

    Dalal, Pronob K.; Agarwal, Manu

    2015-01-01

    Menopause is one of the most significant events in a woman's life and brings in a number of physiological changes that affect the life of a woman permanently. There have been a lot of speculations about the symptoms that appear before, during and after the onset of menopause. These symptoms constitute the postmenopausal syndrome; they are impairing to a great extent to the woman and management of these symptoms has become an important field of research lately. This chapter attempts to understand these symptoms, the underlying pathophysiology and the management options available. PMID:26330639

  19. Pascal Pyramids, Pascal Hyper-Pyramids and a Bilateral Multinomial Theorem

    E-print Network

    Martin Erik Horn

    2003-11-04

    Part I: The two-dimensional Pascal Triangle will be generalized into a three-dimensional Pascal Pyramid and four-, five- or whatsoever-dimensional hyper-pyramids. Part II: The Bilateral Binomial Theorem will be generalised into a Bilateral Trinomial Theorem resp. a Bilateral Multinomial Theorem.

  20. Head docking for single stage robotic cortical sparing adrenalectomy for bilateral pheochromocytoma.

    PubMed

    Aoun, Fouad; Peltier, Alexandre; van Velthoven, Roland

    2015-03-01

    The optimal operative approach in a patient with bilateral pheochromocytoma is controversial. Subtotal minimal invasive cortical sparing adrenalectomy is gaining interest in many centers. We describe a novel technique for single stage approach for cortical sparing adrenalectomy for bilateral pheochromocytoma using head docking in order to offer good exposure of bilateral upper peritoneum without requiring patient or robot repositioning. PMID:26530976

  1. Bilateral Symmetrical Herpes Zoster in an Immunocompetent 15-Year-Old Adolescent Boy

    PubMed Central

    Barankin, Benjamin

    2015-01-01

    Herpes zoster is uncommon in immunocompetent children. The bilateral symmetrical occurrence of herpes zoster lesions is extremely rare. We report a 15-year-old immunocompetent Chinese adolescent boy who developed bilateral symmetrical herpes zoster lesions. To our knowledge, the occurrence of bilateral symmetrical herpes zoster lesions in an immunocompetent individual has not been reported in the pediatric literature. PMID:25692062

  2. Bilateral percutaneous cervical cordotomy: immediate and long-term results in 36 patients with neoplastic disease.

    PubMed Central

    Ischia, S; Luzzani, A; Ischia, A; Maffezzoli, G

    1984-01-01

    Thirty-six patients with neoplastic disease suffering from chronic bilateral pain were subjected to bilateral percutaneous cervical cordotomy. The technique and precautions to be taken in bilateral percutaneous cervical cordotomy performed either in one or two stages are described using a traditional or Levin's thermocouple-monitored electrode. The sequelae, complications and immediate and long-term results are reported. Images PMID:6584554

  3. Horizontal localization with bilateral hearing aids: Without is better than with

    E-print Network

    Horizontal localization with bilateral hearing aids: Without is better than with Tim Van den the effect of bilateral hearing aids on directional hearing in the frontal horizontal plane. Localization tests evaluated bilateral hearing aid users using different stimuli and different noise scenarios

  4. Holmes-Adie Syndrome

    MedlinePLUS

    ... Adie syndrome Information Page Synonym(s): Adie's Syndrome, Adie's Pupil Table of Contents (click to jump to sections) What is Holmes-Adie syndrome ? Is there any treatment? What is the prognosis? What ... syndrome (HAS) is a neurological disorder affecting the pupil of the eye and the autonomic nervous system. ...

  5. Turner Syndrome

    PubMed Central

    Kesler, SR

    2007-01-01

    Turner syndrome (TS) is a neurogenetic disorder characterized by partial or complete monosomy-X. TS is associated with certain physical and medical features including estrogen deficiency, short stature and increased risk for several diseases with cardiac conditions being among the most serious. Girls with TS are typically treated with growth hormone and estrogen replacement therapies to address short stature and estrogen deficiency. The cognitive-behavioral phenotype associated with TS includes strengths in verbal domains with impairments in visual-spatial, executive function and emotion processing. Genetic analyses have identified the short stature homeobox (SHOX) gene as being a candidate gene for short stature and other skeletal abnormalities associated with TS but currently the gene or genes associated with cognitive impairments remain unknown. However, significant progress has been made in describing neurodevelopmental and neurobiologic factors underlying these impairments and potential interventions are on the horizon. Less is known regarding psychosocial and psychiatric functioning in TS but essential aspects of psychotherapeutic treatment plans are suggested in this report. Future investigations of TS should include continued genetic studies such as microarray analyses and determination of candidate genes for both physical and cognitive features. Multimodal, interdisciplinary studies will be essential for identifying optimal, syndrome-specific interventions for improving the lives of individuals with TS. PMID:17562588

  6. [Mirizzi's syndrome].

    PubMed

    Roullet-Audy, J C; Guivarc'h, M; Mosnier, H

    1989-04-15

    Six cases of Mirizzi syndrome are reported. The syndrome consists of a special anatomical variant of the cystic duct, which has a low opening but runs side-by-side with the common bile duct, associated with entrapment of a gallstone in the cystic duct or the neck of the gallbladder, partial or total obstruction of the hepatic duct by the stone and by inflammatory lesions, and recurrent cholangitis. Clinical signs are non-specific and suggest at first sight an obstructive jaundice. Pre-operative morphological examination seldom provide a diagnosis before surgery. In the most typical cases ultrasonography shows dilatation of the upper biliary tract with narrowing of the hepatic duct below the dilatation, due to a stone located outside the common bile duct. Opacification of the biliary tract by endoscopic retrograde catheterization of the papilla duodeni or by transparietohepatic puncture give suggestive images (non-opacification of the cystic duct, narrowing of the hepatic duct opposite the extrinsic compression, with overlying dilatation), but these images are not specific. The per-operative diagnosis is difficult owing to the inflammatory lesions, and a diagnosis of cholangiocarcinoma may be envisaged. Cholecystectomy with recanalization of the cystic duct suppresses the extrinsic compression and helps the inflammatory lesions to regress. However, opening and draining the common bile duct is often necessary. PMID:2524051

  7. Bilateral Abducent Palsy in Leptospirosis- An Eye Opener to a Rare Neuro Ocular Manifestation: A Case Report

    PubMed Central

    Mahesh, Mahadevaiah; Shivanagappa, Mamatha; Venkatesh, Chilkunda Raviprakash

    2015-01-01

    Leptospirosis, a disease of great significance in tropical countries, presents commonly as a biphasic illness with acute febrile episode in the first phase followed by a brief afebrile period and then by the second phase of fever with or without jaundice and renal failure. However, it has varied manifestations and unusual clinical features ascribed to immunological phenomena can occur due to the additional involvement of pulmonary, cardiovascular, and neurological systems. Among the various neurological features, aseptic meningitis is the most common myeloradiculopathy, myelopathy, cerebellar dysfunction, transverse myelitis, Guillain-Barre syndrome, optic neuritis, peripheral neuropathy hare also described. Cranial neuropathy involving facial nerve is a rare, but known neurological manifestation. Sixth nerve palsy in neuroleptospirosis has so far not been reported. We hereby present the occurrence of bilateral abducent nerve palsy in a patient with leptospirosis. PMID:26538786

  8. First case of atypical takotsubo cardiomyopathy in a bilateral lung-transplanted patient due to acute respiratory failure.

    PubMed

    Ghadri, Jelena R; Bataisou, Roxana D; Diekmann, Johanna; Lüscher, Thomas F; Templin, Christian

    2015-10-01

    Takotsubo cardiomyopathy which is characterised by a transient left ventricular wall motion abnormality was first described in 1990. The disease is still not well known, and as such it is suggested that an emotional trigger is mandatory in this disease. We present the case of a 51-year old female patient seven years after bilateral lung transplantation, who developed acute respiratory distress syndrome and subsequently suffered from atypical takotsubo cardiomyopathy with transient severe reduction of ejection fraction and haemodynamic instability needing acute intensive care treatment. Acute respiratory failure has emerged as an important physical trigger factor in takotsubo cardiomyopathy. Little is known about the association of hypoxia and takotsubo cardiomyopathy which can elicit a life-threatening condition requiring acute intensive care. Therefore, experimental studies are needed to investigate the role of hypoxia in takotsubo cardiomyopathy. PMID:24627332

  9. Differential behavioral reinforcement effects of dopamine receptor agonists in the rat with bilateral lesion of the posterior ventral tegmental area.

    PubMed

    Ouachikh, Omar; Dieb, Wisam; Durif, Franck; Hafidi, Aziz

    2013-09-01

    Dopamine dysregulation syndrome in Parkinson's disease has been attributed to dopamine replacement therapies and/or a lesion of the dopaminergic system. The dopaminergic neuronal loss targets the substantia nigra and the ventral tegmental area (VTA). We hypothesize that dopamine replacement therapy is responsible for the potential reinforcement effect in Parkinson's disease by acting on the neuronal reward circuitry. Therefore this study was designed to explore the potential motivational effect of dopamine replacement therapy in bilateral VTA-lesioned animals. The posterior (p)VTA, which project to the nucleus accumbens (NAc) constitutes the major dopamine neuronal circuitry implicated in addictive disorders. Using the conditioned place preference (CPP) behavioral paradigm, we investigated the motivational effects of dopamine receptor agonists, and cocaine in rat with a 6-OHDA bilateral lesion of the pVTA. Amongst the dopamine receptor agonists used in this study only the D2R and D3R agonists (bromocriptine, PD128907 and pramipexole), induced a significant CPP in pVTA-lesioned animals. Dopamine receptor agonists did not induce behavioral sensitization in sham animals. Moreover, confocal D2R immunostaining analysis showed a significant increase in the number of D2R per cell body in the NAc shell of pVTA lesioned rats compared to sham. This result correlated, for the first time, the dopamine receptor agonists effect with DR2 overexpression in the NAc shell of pVTA-lesioned rats. In addition, cocaine, which is known to increase dopamine release, induced behavioral sensitization in sham group but not in dopamine deprived group. Thus, the later result highlighted the importance of pVTA-NAc dopaminergic pathway in positive reinforcements. Altogether these data suggested that the implication of the dopamine replacement therapy in the appearance of dopamine dysregulation syndrome in Parkinson's disease is probably due to both neuronal degeneration in the posterior VTA and dopamine receptor sensitization in the dopamine depleted NAc. PMID:23727149

  10. Bilateral brachial neuritis secondary to varicella reactivation in an HIV-positive man.

    PubMed

    McNamara, P; Kiely, B M; Zekan, S; Redmond, J; Mulcahy, F

    2012-02-01

    We present the case of a 48-year-old HIV-positive man, who developed acute onset of pain in both upper limbs associated with proximal weakness and distal paraesthesia. Eight weeks prior to this presentation he had had varicella zoster affecting his right S1 dermatome. CD4 count was 355 cells/mm(3) and he was antiretroviral therapy (ART) naive. Power was 0/5 proximally and 4/5 distally in the upper limbs. Reflexes were absent and there was sensory loss in the C5, C6 and T1 dermatomes. Cerebrospinal fluid (CSF) examination showed a lymphocytosis with low glucose; however, CSF Mycobacterium tuberculosis (TB), and herpes simplex virus polymerase chain reaction (HSV PCR) were negative as was syphilis serology. Electromyography showed marked motor axonal loss. Magnetic resonance imaging (MRI) did not show any cervical spinal lesion. Varicella zoster virus (VZV) PCR was positive in the CSF. He was treated with high-dose intravenous aciclovir with good resolution of his syndrome over time and was commenced on ART. We believe this to be the first case report of varicella reactivation causing bilateral neuralgic amyotrophy in an HIV-positive patient. PMID:22422694

  11. Clinico-radiological spectrum of bilateral temporal lobe hyperintensity: a retrospective review

    PubMed Central

    Sureka, J; Jakkani, R K

    2012-01-01

    Bilateral temporal lobe hyperintensity (BTH) is a commonly encountered MRI finding in a wide spectrum of clinical conditions and often poses a diagnostic challenge to the radiologist. The purpose of this paper is to elucidate several diseases that manifest as BTH on MRI, based on a retrospective review of cranial MRI of 65 cases seen in our institution between October 2007 and September 2010. We found BTH in different clinical scenarios that included infective diseases (herpes simplex virus, congenital cytomegalovirus infection), epileptic syndrome (mesial temporal sclerosis), neurodegenerative disorders (Alzheimer's disease, frontotemporal dementia, Type 1 myotonic dystrophy), neoplastic conditions (gliomatosis cerebri), metabolic disorders (mitochondrial encephalopathy, lactic acidosis and stroke-like episodes, Wilson's disease, hyperammonemia), dysmyelinating disease (megalencephalic leukoencephalopathy with subcortical cysts), and vascular (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) and paraneoplastic (limbic encephalitis) disorders. The conventional MRI findings with advanced MRI such as diffusion-weighted imaging, susceptibility-weighted imaging and MR spectroscopy along with laboratory results are potentially helpful in distinguishing the different clinical conditions and thus affect the early diagnosis and clinical outcome. PMID:22422381

  12. Malignant neoplasia arising from ovarian remnants following bilateral salpingo-oophorectomy (Review)

    PubMed Central

    IMAI, ATSUSHI; MATSUNAMI, KAZUTOSHI; TAKAGI, HIROSHI; ICHIGO, SATOSHI

    2014-01-01

    Ovarian remnant syndrome (ORS) is a rare, but well-known gynecological complication, most often induced by difficult bilateral salpingo-oophorectomy (BSO) procedures that leave residual ovarian tissue on the pelvic wall. The most common preexisting conditions for this complication include endometriosis, pelvic inflammatory disease and prior abdominal surgery. The residual ovarian tissue may eventually cause malignant development. A total of 12 cases of malignant and benign tumors (clear cell adenocarcinoma in 1 case, mucinous-type tumors in 2, endometrioid-type tumors in 5, adenocarcinoma in 3 and border serous neoplasia in 1) and 21 benign cysts developing from an ovarian remnant have been described in the literature to date. Endometriosis, known to increase the risk of ovarian cancer, predisposes patients to ORS, with an incidence rate of 30 to 50% in ORS patients with ovarian carcinoma. Although the true incidence of ORS remains unknown, when endometriotic adhesions are diagnosed during BSO, the possibility of ORS and subsequent ovarian malignant transformation may mandate complete surgical resection. PMID:24959210

  13. Cell-To-Cell Communication in Bilateral Macronodular Adrenal Hyperplasia Causing Hypercortisolism

    PubMed Central

    Lefebvre, Hervé; Duparc, Céline; Prévost, Gaëtan; Bertherat, Jérôme; Louiset, Estelle

    2015-01-01

    It has been well established that, in the human adrenal gland, cortisol secretion is not only controlled by circulating corticotropin but is also influenced by a wide variety of bioactive signals, including conventional neurotransmitters and neuropeptides, released within the cortex by various cell types such as chromaffin cells, neurons, cells of the immune system, adipocytes, and endothelial cells. These different types of cells are present in bilateral macronodular adrenal hyperplasia (BMAH), a rare etiology of primary adrenal Cushing’s syndrome, where they appear intermingled with adrenocortical cells in the hyperplastic cortex. In addition, the genetic events, which cause the disease, favor abnormal adrenal differentiation that results in illicit expression of paracrine regulatory factors and their receptors in adrenocortical cells. All these defects constitute the molecular basis for aberrant autocrine/paracrine regulatory mechanisms, which are likely to play a role in the pathophysiology of BMAH-associated hypercortisolism. The present review summarizes the current knowledge on this topic as well as the therapeutic perspectives offered by this new pathophysiological concept. PMID:25941513

  14. Isolated bilateral macrodontia of mandibular second premolars: A case report

    PubMed Central

    Canoglu, Ebru; Canoglu, Harun; Aktas, Alper; Cehreli, Zafer C.

    2012-01-01

    Isolated bilateral macrodontia of mandibular second premolars is an extremely rare dental anomaly with only 5 cases reported to date. This case report presents clinical and radiographic findings of isolated bilateral macrodontia in a 12-year-old child. The patient was referred to the clinic with local crowding of mandibular posterior teeth. Radiographic findings revealed the presence of impacted macrodont mandibular second premolars and their distinct morphological appearance, characterized by large, multitubercular, molariform crowns, and tapering, single roots. Following surgical removal of the impacted premolars, orthodontic therapy was initiated to correct the malocclusion. Along with the features and treatment of this rare anomaly, this case report also illustrates the benefits, in terms of treatment planning and surgical technique, of supplementing conventional radiography with cone-beam computed tomography to localize the macrodont premolars and accurately establish their relationship with the neighboring roots and anatomic structures. PMID:22904663

  15. Bilateral ovarian cystadenoma in a geriatric African elephant (Loxodonta africana).

    PubMed

    Hoby, Stefan; Aloisio, Fabio; Schumacher, Vanessa L

    2014-06-01

    A 59-yr-old, captive female African elephant (Loxodonta africana) died of a cardiovascular collapse. Necropsy revealed bilateral replacement of the ovarian tissue by multiple cystic formations of up to 10 cm in diameter. The cysts were thin walled and filled with clear watery fluid. Smaller solid masses with an irregular surface projected from the wall of a few of the cysts. Histologically, the cystic structures were characterized by a single layer of well-differentiated cuboidal epithelial cells resting on a basement membrane. Occasionally the cysts contained nodular proliferations of single-layered, well-differentiated cuboidal epithelial cells forming anastomosing tubules and occasional papillary projections. The ovarian neoplasia was diagnosed as a bilateral multilocular serous ovarian cystadenoma. The nulliparous status and the advanced age may have contributed to the ovarian pathology. PMID:25000708

  16. An unusual triad: Bilateral dilated odontoma, hypodontia and peg laterals.

    PubMed

    Sebastian, Alphy Alphonsa; Ahsan, Auswaf; George, Ahkin John; Aby, John

    2013-09-01

    The dilated odontoma is an infrequent developmental alteration that appears in any area of the dental arches and can affect deciduous, permanent and supernumerary tooth. Dens invaginatus is a developmental anomaly resulting from invagination of a portion of crown forming within the enamel organ during odontogenesis. The most extreme form of dens invaginatus is known as dilated odontoma. The aim of this case report is to present a rare case of bilateral dilated odontoma affecting a microdontic permanent lateral incisor in a 30 year old female patient with hypodontia and peglateral teeth with its clinical, radiological and histological features, which has yet been not reported. Bilateral presence of dilated odontoma is not a common occurrence, although a single tooth involvement in each case has been reported in the literature. PMID:24348628

  17. Bilateral hypoplasia of the internal carotid arteries with basilar aneurysm.

    PubMed

    Briganti, F; Maiuri, F; Tortora, F; Elefante, A

    2004-10-01

    We report a rare case of bilateral hypoplasia of the internal carotid arteries with an associated aneurysm of the basilar tip, studied by CT angiography, MR angiography and digital angiography. The patient became symptomatic with an episode of loss of consciousness, likely due to reduced blood perfusion. The other 20 reported cases of bilateral carotid hypoplasia (only four of which with an associated aneurysm) are reviewed. The findings of noninvasive procedures (including narrowing of the carotid canals on CT) may lead to a correct diagnosis before angiography is performed; they may also help to differentiate angiographic narrowing of the hypoplastic internal carotids from the string sign often observed in some acquired conditions. PMID:15322780

  18. Multiple sclerosis fatigue relief by bilateral somatosensory cortex neuromodulation.

    PubMed

    Tecchio, Franca; Cancelli, Andrea; Cottone, Carlo; Zito, Giancarlo; Pasqualetti, Patrizio; Ghazaryan, Anna; Rossini, Paolo Maria; Filippi, Maria Maddalena

    2014-08-01

    Multiple sclerosis-related fatigue is highly common and often refractory to medical therapy. Ten fatigued multiple sclerosis patients received two blocks of 5-day anodal bilateral primary somatosensory areas transcranial direct current stimulation in a randomized, double-blind sham-controlled, cross-over study. The real neuromodulation by a personalized electrode, shaped on the MR-derived primary somatosensory cortical strip, reduced fatigue in all patients, by 26 % in average (p = 0.002), which did not change after sham (p = 0.901). Anodal tDCS over bilateral somatosensory areas was able to relief fatigue in mildly disabled MS patients, when the fatigue-related symptoms severely hamper their quality of life. These small-scale study results support the concept that interventions modifying the sensorimotor network activity balances could be a suitable non-pharmacological treatment for multiple sclerosis fatigue. PMID:24854634

  19. [A bilateral posterior shoulder dislocation caused by humeral head osteonecrosis].

    PubMed

    Barbier, O; Van Gaver, E; Rigal, S

    2010-02-01

    We report a case of simultaneous bilateral posterior shoulders dislocations in a 46-year-old male with antecedent of high-dose corticotherapy. The mechanism was non-traumatic after a contraction of the sub scapularis muscle in internal rotation. The interscapular pain was not initially diagnosed although a tomodensitometry was realized to eliminate a cardiovascular emergency. After reduction, the shoulders were unstable and the MRI showed an osteonecrosis of the humeral heads. The patient underwent surgery with an iliac spongy bone graft in the humeral nick. At 3 months, there was no recurrence and mobilities were good. Bilateral posterior shoulders dislocations are unusual and it is the first case of non-traumatic dislocation. Aetiology are often epilepsy, electrocution, and extreme traumatism. Diagnosis is often misrecognized and the treatment is not well codified. PMID:20093062

  20. Bilateral ureteropelvic junction obstruction presenting with hypertension and cerebral vascular accident.

    PubMed

    Tourchi, Ali; Kajbafzadeh, Abdolmohammad; Nejat, Farideh; Golmohammadi, Abolfazl; Alizadeh, Farshid; Mahboobi, Amir Hassan

    2010-11-01

    Cerebrovascular accident and renal hypertension secondary to ureteropelvic junction obstruction (UPJO) are extremely rare. A 6-year-old girl presented with intracranial hemorrhage because of hypertension secondary to the bilateral UPJO. This was successfully treated with craniotomy and subsequent percutaneous nephrostomy placement and bilateral pyeloplasty. Brain computerized tomography revealed right-sided intracranial hemorrhage, and renal ultrasonography confirmed bilateral severe hydronephrosis. Craniotomy with evacuation of intracerebral hematoma and bilateral nephrostomy under ultrasound guidance were performed. One week later, she underwent bilateral pyeloplasty in 2 stages. The patient has been well with normalized renal function and is completely cured of her hypertension in long-term follow-up. PMID:21034929

  1. Bilateral Continuous Automated Distraction Osteogenesis: Proof of Principle.

    PubMed

    Peacock, Zachary S; Tricomi, Brad J; Faquin, William C; Magill, John C; Murphy, Brian A; Kaban, Leonard B; Troulis, Maria J

    2015-11-01

    The purpose of this study was to demonstrate that automated, continuous, curvilinear distraction osteogenesis (DO) in a minipig model is effective when performed bilaterally, at rates up to 3?mm/day, to achieve clinically relevant lengthening.A Yucatan minipig in the mixed dentition phase underwent bilaterally, at a continuous DO at a rate of 2?mm/day at the center of rotation; 1.0 and 3.0?mm/day at the superior and inferior regions, respectively. The distraction period was 13 days with no latency period. Vector and rate of distraction were remotely monitored without radiographs, using the device sensor. After fixation and euthanasia, the mandible and digastric muscles were harvested. The ex vivo appearance, stability, and radiodensity of the regenerate were evaluated using a semiquantitative scale. Percent surface area (PSA) occupied by bone, fibrous tissue, cartilage, and hematoma were calculated using histomorphometrics. The effects of DO on the digastric muscles and mandibular condyles were assessed via microscopy, and degenerative changes were quantified.The animal was distracted to 21?mm and 24?mm on the right and left sides, respectively. Clinical appearance, stability, and radiodensity were scored as "3" bilaterally indicating osseous union. The total PSA occupied by bone (right?=?75.53?±?2.19%; left PSA?=?73.11?±?2.18%) approached that of an unoperated mandible (84.67?±?0.86%). Digastric muscles and condyles showed negligible degenerative or abnormal histologic changes.This proof of principle study is the first report of osseous healing with no ill-effect on associated soft tissue and the mandibular condyle using bilateral, automated, continuous, and curvilinear DO at rates up to 3?mm/day. The model approximates potential human application of continuous automated distraction with a semiburied device. PMID:26594967

  2. Chronic renal failure in a patient with bilateral ureterocele

    PubMed Central

    Dada, Samuel A.; Rafiu, Mojeed O.; Olanrewaju, Timothy O.

    2015-01-01

    Ureterocele is a congenital anomaly, in which there is mal-development of the caudal segments of the ureter. There is a female preponderance with most cases seen in Caucasians. Among the reported complications of this condition, chronic renal failure occurring in the setting of ureterocele has not been well documented. We report a case of a young girl with bilateral ureterocele presenting with chronic renal failure, whose management presented a diagnostic failure and inadequate treatment. PMID:26108593

  3. Clinical diagnosis of bilateral vestibular loss: three simple bedside tests

    PubMed Central

    Petersen, Jens A.; Straumann, Dominik

    2013-01-01

    Bilateral vestibular loss (BVL) may present with or without vertigo and hearing loss. Amongst the causes of BVL are vestibulotoxic antibiotics, autoimmune ear diseases, Menière’s disease and meningitis. Clinical diagnosis of BVL is based on the result of three simple bedside tests: a positive head impulse test, reduced dynamic visual acuity and a positive Romberg test on foam rubber. With these signs, diagnosis of severe BVL is usually straightforward to establish. PMID:23277792

  4. [Rare case of bilateral pulmonary agenesis and prenatal diagnosis].

    PubMed

    Veluppillai, C; Jossic, F; Quéré, M-P; Philippe, H-J; Le Vaillant, C

    2014-01-01

    Bilateral pulmonary agenesis (BPA) is a rare congenital lung malformation. The prognosis is severe as it is incompatible with extra-uterine life. Although multiple prenatal imaging modalities are developed, the prenatal diagnosis of BPA remains problematic. We report a case of BPA observed in our unity and for which the diagnosis was not clearly identified during the evaluation. This report illustrates the need to consider all the imaging aspects and particularly during US examination suspecting BPA. PMID:24934770

  5. Dual arm master controller for a bilateral servo-manipulator

    DOEpatents

    Kuban, Daniel P. (Oak Ridge, TN); Perkins, Gerald S. (Altadena, CA)

    1989-01-01

    A master controller for a mechanically dissimilar bilateral slave servo-manipulator is disclosed. The master controller includes a plurality of drive trains comprising a plurality of sheave arrangements and cables for controlling upper and lower degrees of master movement. The cables and sheaves of the master controller are arranged to effect kinematic duplication of the slave servo-manipulator, despite mechanical differences therebetween. A method for kinematically matching a master controller to a slave servo-manipulator is also disclosed.

  6. Bilateral arm power imbalance in swim bench exercise to exhaustion.

    PubMed

    Potts, A D; Charlton, J E; Smith, H M

    2002-12-01

    We examined the supposition that swimmers may exhibit an imbalance in bilateral arm power output during simulated swimming exercise. Ten competitive front crawl swimmers (5 males, 5 females; age 20.5+/-2.3 years; height 1.74+/-0.09 m; body mass 72.0+/-16.7 kg; 400 m freestyle swim time 278+/-20.5 s; mean +/- s) performed four incremental (10 W x min(-1)) swim ramp tests on a computer-interfaced biokinetic swim bench ergometer. External power output from each arm was measured continuously to exhaustion. The results showed that, throughout the course of the simulated swim, external power output clearly favoured the left arm (F1,9 = 12.5, P= 0.006). This was especially evident in the final 30 s to exhaustion, when 54.0+/-3.87% of external power output was derived from the left arm versus 46.0+/-3.87% from the right arm. The disparity in external power output was further highlighted when the participants were grouped into unilateral and bilateral breathers. Unilateral breathers (n = 5) produced 57.1+/-2.62% of external power output from the left armversus 42.9+/-2.62% from the right arm (P= 0.001). Bilateral breathers (n = 5) exhibited a more balanced external power output of 51.0+/-1.82% from the left arm and 49.0+/-1.82% from the right arm (P = 0.177). Evidence of power imbalance in the simulated swimming stroke may have important implications for optimizing swim performance. The observed power imbalance may be reduced when a bilateral breathing technique is adopted. PMID:12477007

  7. Bilateral breast enlargement in a male toddler: an unusual cause.

    PubMed

    Sharma, Rajni; Jain, Vandana

    2009-11-01

    We report a case of a two and a half yr old boy who presented with complaint of bilateral asymmetrical breast enlargement since infancy. On examination, he had features of neurofibromatosis type 1 (NF1). Complete endocrinological evaluation was normal. Trucut biopsy of the breast revealed overgrowth of fibrocollagenous and adipose tissue without hyperplasia of breast parenchyma. Thus a diagnosis of NF1 with pseudogynecomastia was made. PMID:20072859

  8. Regulator Circuit For Bilateral Source/Load Power System

    NASA Technical Reports Server (NTRS)

    Madden, George; Kimball, Bruce

    1994-01-01

    Circuit regulates output voltage whether current flows from left source/load to right load/source or vice versa. Overall system characterized as voltage-controlled current source with bilateral current capability. Additional feature of control circuit is that maximum current in either direction limited by limiting excursion of output voltage from zero-current value. Thus, external current-limiting circuitry not necessary.

  9. Metabolic Syndrome: Polycystic Ovary Syndrome.

    PubMed

    Mortada, Rami; Williams, Tracy

    2015-08-01

    Polycystic ovary syndrome (PCOS) is a heterogeneous condition characterized by androgen excess, ovulatory dysfunction, and polycystic ovaries. It is the most common endocrinopathy among women of reproductive age, affecting between 6.5% and 8% of women, and is the most common cause of infertility. Insulin resistance is almost always present in women with PCOS, regardless of weight, and they often develop diabetes and metabolic syndrome. The Rotterdam criteria are widely used for diagnosis. These criteria require that patients have at least two of the following conditions: hyperandrogenism, ovulatory dysfunction, and polycystic ovaries. The diagnosis of PCOS also requires exclusion of other potential etiologies of hyperandrogenism and ovulatory dysfunction. The approach to PCOS management differs according to the presenting symptoms and treatment goals, particularly the patient's desire for pregnancy. Weight loss through dietary modifications and exercise is recommended for patients with PCOS who are overweight. Oral contraceptives are the first-line treatment for regulating menstrual cycles and reducing manifestations of hyperandrogenism, such as acne and hirsutism. Clomiphene is the first-line drug for management of anovulatory infertility. Metformin is recommended for metabolic abnormalities such as prediabetes, and a statin should be prescribed for cardioprotection if the patient meets standard criteria for statin therapy. PMID:26280343

  10. A powered prosthetic intervention for bilateral transfemoral amputees.

    PubMed

    Lawson, Brian E; Ruhe, Brian; Shultz, Amanda; Goldfarb, Michael

    2015-04-01

    This paper presents the design and validation of a control system for a pair of powered knee and ankle prostheses to be used as a prosthetic intervention for bilateral transfemoral amputees. The control system leverages communication between the prostheses for enhanced awareness and stability, along with power generation at the knee and ankle joints to better restore biomechanical functionality in level ground walking. The control methodology employed is a combination of an impedance-based framework for weight-bearing portions of gait and a trajectory-based approach for the nonweight-bearing portions. The control system was implemented on a pair of self-contained powered knee and ankle prostheses, and the ability of the prostheses and control approach to provide walking functionality was assessed in a set of experimental trials with a bilateral transfemoral amputee subject. Specifically, experimental data from these trials indicate that the powered prostheses and bilateral control architecture provide gait kinematics that reproduce healthy gait kinematics to a greater extent than the subject's daily-use passive prostheses. PMID:25014950

  11. Bilateral vision loss in a captive cheetah (Acinonyx jubatus).

    PubMed

    Walser-Reinhardt, Ladina; Wernick, Morena B; Hatt, Jean-Michel; Spiess, Bernhard M

    2010-09-01

    The following case report describes a 1-year-old female cheetah (Acinonyx jubatus) with bilateral blindness and unresponsive pupils. For comparison, a second healthy 2.5-year-old male cheetah without visual deficits was also examined. Clinical examination of both animals included biomicroscopy, indirect ophthalmoscopy, tonometry, and electroretinography. The young female cheetah showed no menace response, no direct or indirect pupillary light reflex, and no dazzle reflex in either eye. Fundus lesions, as detected by indirect ophthalmoscopy, are described for the female animal. In both eyes, the fundus color was green/turquoise/yellow with multiple hyperpigmented linear lesions in the tapetal area around the optic nerve. The optic nerve head was dark gray and about half the normal size suggesting bilateral optic nerve hypoplasia and retinal dysplasia or differentially optic nerve atrophy and chorioretinal scarring. The ERG had low amplitudes in the right eye but appeared normal in the left eye compared with the male cheetah. Blood levels did not suggest current taurine deficiency. This is addressed to some degree in the discussion. Bilateral optic nerve hypoplasia or optic nerve atrophy is a rare anomaly in cats and has not yet been described in a cheetah. PMID:20840102

  12. Phonological Repetition-Suppression in Bilateral Superior Temporal Sulci

    PubMed Central

    Vaden, Kenneth I.; Muftuler, L. Tugan; Hickok, Gregory

    2009-01-01

    Evidence has accumulated that posterior superior temporal sulcus (STS) is critically involved in phonological processing during speech perception, although there are conflicting accounts regarding the degree of lateralization. The current fMRI experiment aimed to identify phonological processing during speech perception through repetition-suppression effects. Repetition-suppression occurs when brain activity decreases from repetitive presentation of stimulus characteristics, in regions of cortex that process those characteristics. We manipulated the degree of phonological repetition among words in short lists to obtain systematic decreases in brain response, indicative of phonological processing. The fMRI experiment presented seventeen participants with recorded wordlists, of low, medium, or high phonological repetition, defined by how many phonemes were shared among words. Bilaterally, middle STS demonstrated activity differences consistent with our prediction of repetition-suppression, as responses decreased systematically with each increase in phonological repetition. Phonological repetition-suppression in bilateral STS converges with neuroimaging evidence for phonological processing, and word deafness resulting from bilateral superior temporal lesions. PMID:19651222

  13. Auditory plasticity in deaf children with bilateral cochlear implants

    NASA Astrophysics Data System (ADS)

    Litovsky, Ruth

    2005-04-01

    Human children with cochlear implants represent a unique population of individuals who have undergone variable amounts of auditory deprivation prior to being able to hear. Even more unique are children who received bilateral cochlear implants (BICIs), in sequential surgical procedures, several years apart. Auditory deprivation in these individuals consists of a two-stage process, whereby complete deafness is experienced initially, followed by deafness in one ear. We studied the effects of post-implant experience on the ability of deaf children to localize sounds and to understand speech in noise. These are two of the most important functions that are known to depend on binaural hearing. Children were tested at time intervals ranging from 3-months to 24-months following implantation of the second ear, while listening with either implant alone or bilaterally. Our findings suggest that the period during which plasticity occurs in human binaural system is protracted, extending into middle-to-late childhood. The rate at which benefits from bilateral hearing abilities are attained following deprivation is faster for speech intelligibility in noise compared with sound localization. Finally, the age at which the second implant was received may play an important role in the acquisition of binaural abilities. [Work supported by NIH-NIDCD.

  14. Nodding Syndrome

    PubMed Central

    Sejvar, James J.; Riek, Lul; Vandemaele, Katelijn A.H.; Lamunu, Margaret; Kuesel, Annette C.; Schmutzhard, Erich; Matuja, William; Bunga, Sudhir; Foltz, Jennifer; Nutman, Thomas B.; Winkler, Andrea S.; Mbonye, Anthony K.

    2013-01-01

    An epidemic illness characterized by head nodding associated with onchocerciasis has been described in eastern Africa since the early 1960s; we summarize published reports and recent studies. Onset of nodding occurs in previously healthy 5–15-year-old children and is often triggered by eating or cold temperatures and accompanied by cognitive impairment. Its incidence has increased in Uganda and South Sudan over the past 10 years. Four case–control studies identified modest and inconsistent associations. There were nonspecific lesions seen by magnetic resonance imaging, no cerebrospinal fluid inflammation, and markedly abnormal electroencephalography results. Nodding episodes are atonic seizures. Testing has failed to demonstrate associations with trypanosomiasis, cysticercosis, loiasis, lymphatic filariasis, cerebral malaria, measles, prion disease, or novel pathogens; or deficiencies of folate, cobalamin, pyridoxine, retinol, or zinc; or toxicity from mercury, copper, or homocysteine. There is a consistent enigmatic association with onchocerciasis detected by skin snip or serologic analysis. Nodding syndrome is an unexplained epidemic epilepsy. PMID:23965548

  15. The Chediak-Higashi syndrome of cats.

    PubMed

    Kramer, J W; Davis, W C; Prieur, D J

    1977-05-01

    Initial clinical, genetic, cytochemical and ultrastructural studies have characterized the Chediak-Higashi syndrome in cats. Three cats with Chediak-Higashi syndrome were found in a single line of 27 Persian cats, and three additional affected cats were produced from two prospective breedings of the original line. The disorder was characterized genetically as an autosomal recessive condition. All cats in the line with the combination of yellow eye color and "blue smoke" hair color exhibited the disorder. Four of the five cats examined had bilateral nuclear cataracts as early in life as 3 months of age. No increased susceptibility to infectious disease was observed. A bleeding tendency was noted. Abnormally large eosinophilic, sudanophilic, peroxidase-containing granules were observed in the neutrophils of the granulocytic series of blood and bone marrow by electron and light microscopy. Granules of eosinophils and basophils were also enlarged. Light microscopic studies of hair and skin revealed enlarged melanin granules. These manifestations were similar to those in man, mink, cattle, mice, and the killer whale with Chediak-Higashi syndrome. Cats are the sixth species in which this genetic disease has been reported. PMID:865082

  16. Voriconazole-induced periostitis in a patient with overlap syndromes.

    PubMed

    Hirota, Keisho; Yasoda, Akihiro; Fujii, Toshihito; Inagaki, Nobuya

    2014-01-01

    A 52-year-old woman with overlap syndrome and interstitial pneumonia underwent immunosuppressive therapy and she was suspected to suffer from pulmonary aspergillosis. Oral voriconazole was initiated, and a rapid elevation of alkaline phosphatase (ALP) occurred after 4 weeks. After 2 months, the patient presented diffuse pain in bilateral skeletal regions, and bone scintigraphy revealed bilateral multiple areas of increased radiotracer uptake. We suspected the skeletal involvement as voriconazole-induced periostitis. Actually, the plasma fluoride level was increased. Voriconazole was replaced with itraconazole, and after 3 weeks, the patient stopped complaining of bone pain concomitant with the decrease in ALP. Voriconazole-induced periostitis is a rare condition but had previously been reported in solid organ or patients with bone marrow transplant who received a long-term voriconazole therapy. Our present case is distinctive of previous ones, because it occurred in a patient with connective tissue disease which had its rapid progression. PMID:24599432

  17. Simultaneous Loss of Bilateral Voluntary Eyelid Opening and Sustained Winking Response Following Bilateral Posterior Cerebral Artery Infarction

    PubMed Central

    Kim, Joon Yeop; Kim, Yong Wook

    2015-01-01

    Spontaneous opening and closing of both eyes usually occurs in the normal awake state, unless a deliberate and voluntary attempt is made to open only one eye. We present a rare case of a male patient who was unable to open both eyes simultaneously after bilateral posterior cerebral artery infarction. He was able to close both eyes voluntarily. However, he was unable to keep both eyes open simultaneously and either the right or left eye remained closed. Upon a verbal command to open both eyes, the opened eye closed and the contralateral eye opened. When the closed eye was forced open, the opened eye closed. We thus presented a case of right-left dissociation of voluntary eyelid opening following bilateral posterior cerebral artery infarction, which was treated with botulinum toxin type A injection. Differential diagnosis to other movement disorders of the eyelids was discussed. PMID:25932428

  18. Genetics Home Reference: Horner syndrome

    MedlinePLUS

    ... 250 babies are born with Horner syndrome. The incidence of Horner syndrome that appears later is unknown, but it is considered an uncommon disorder. What genes are related to Horner syndrome? Although congenital Horner syndrome can ...

  19. Reversible cerebral vasoconstriction syndrome with multivessel cervical artery dissections and a double aortic arch.

    PubMed

    Nouh, Amre; Ruland, Sean; Schneck, Michael J; Pasquale, David; Biller, José

    2014-02-01

    Reversible cerebral vasoconstriction syndrome (RCVS) has been associated with exposure to vasoactive substances and few reports with cervical arterial dissections (CADs). We evaluated a 32-year-old woman with history of depression, migraines without aura, and cannabis use who presented with a thunderclap headache unresponsive to triptans. She was found to have bilateral occipital infarcts, bilateral extracranial vertebral artery dissections, bilateral internal carotid artery dissecting aneurysms, and extensive distal multifocal segmental narrowing of the anterior and posterior intracranial circulation with a "sausage on a string-like appearance" suggestive of RCVS. Subsequently, she was found to have a distal thrombus of the basilar artery, was anticoagulated, and discharged home with no residual deficits. We highlight the potential association of CADs and RCVS. The association of RCVS and a double aortic arch has not been previously reported. PMID:24103665

  20. Leigh syndrome: neuropathology and pathogenesis.

    PubMed

    Lake, Nicole J; Bird, Matthew J; Isohanni, Pirjo; Paetau, Anders

    2015-06-01

    Leigh syndrome (LS) is the most common pediatric presentation of a defined mitochondrial disease. This progressive encephalopathy is characterized pathologically by the development of bilateral symmetrical lesions in the brainstem and basal ganglia that show gliosis, vacuolation, capillary proliferation, relative neuronal preservation, and by hyperlacticacidemia in the blood and/or cerebrospinal fluid. Understanding the molecular mechanisms underlying this unique pathology has been challenging, particularly in view of the heterogeneous and not yet fully determined genetic basis of LS. Moreover, animal models that mimic features of LS have only been created relatively recently. Here, we review the pathology of LS and consider what might be the molecular mechanisms underlying its pathogenesis. Data from a wide range of sources, including patient samples, animal models, and studies of hypoxic-ischemic encephalopathy (a condition that shares features with LS), were used to provide insight into the pathogenic mechanisms that may drive lesion development. Based on current data, we suggest that severe ATP depletion, gliosis, hyperlacticacidemia, reactive oxygen species, and potentially excitotoxicity cumulatively contribute to the neuropathogenesis of LS. An intimate understanding of the molecular mechanisms causing LS is required to accelerate the development of LS treatments. PMID:25978847

  1. [Periodic fever syndrome/autoinflammatory syndrome].

    PubMed

    Kötter, I; Schedel, J; Kümmerle-Deschner, J B

    2009-03-01

    Hereditary periodic fever syndromes (autoinflammatory syndromes) are characterised by relapsing fevers and additional manifestations such as skin rashes, mucosal manifestations, and joint pain. Some of these disorders only present with organ manifestations and serological signs of inflammation without obvious fever (e.g. PAPA and Blau syndrome). There is a strong serological inflammatory response with an elevation of serum amyloid A (risk of secondary amyloidosis). There are monogenic disorders for which the mode of inheritance and gene mutation are known, but probably also polygenic diseases which present with similar symptoms to the classic autoinflammatory syndromes. Gene mutations have been described for the monogenic disorders (FMF, HIDS, CAPS, PAPA and Blau syndrome), which lead to an induction of the production of IL-1ss. Therapeutically, the IL-1-receptor antagonist anakinra is mainly used. In the case of TRAPS and Blau syndrome, TNF antagonists may also be used. PFAPA syndrome, the Schnitzler syndrome, Still's disease of adult and pediatric onset, Behçet's disaese and Crohn's disease also are mentioned as additional possible autoinflammatory syndromes. PMID:19255765

  2. A Classic Case of Tuberous Sclerosis with Multisystem Involvement Including Giant Bilateral Renal Angiomyolipomas Presenting as Massive Hematuria

    PubMed Central

    Mistry, Kewal A.; Sood, Dinesh; Bhoil, Rohit; Chadha, Veenal; Ahluwalia, Ajay K.; Sood, Saurabh; Suthar, Pokhraj P.

    2015-01-01

    Summary Background Tuberous Sclerosis (TSC) also known as Bourneville disease is a neurocutaneous syndrome having an autosomal dominant inheritance pattern, though the condition has a high rate of spontaneous mutation. It is the second most common neurocutaneous syndrome after neurofibromatosis. This disease demonstrates a widespread potential for hamartomatous growths in multiple organ systems. Case Report We report a case of a 36-year-old female with TSC presenting as massive hematuria with underlying giant bilateral renal angiomyolipomas (AML) with estimated total tumor burden of more than 8 kg which is to the best of our knowledge the highest ever reported. The patient also had lymphangioleiomyomatosis and lesions in the brain, skin, teeth and bones. Conclusions TSC has a wide variety of clinical and radiologic manifestations. It should be suspected when some of the common radiological manifestations are found, including CNS involvement, renal and hepatic AMLs and LAM, even if clinical signs are not obvious. Renal AMLs in setting of TSC may reach giant proportions and may present with massive hematuria. PMID:26491490

  3. Angelman Syndrome.

    PubMed

    Margolis, Seth S; Sell, Gabrielle L; Zbinden, Mark A; Bird, Lynne M

    2015-07-01

    In this review we summarize the clinical and genetic aspects of Angelman syndrome (AS), its molecular and cellular underpinnings, and current treatment strategies. AS is a neurodevelopmental disorder characterized by severe cognitive disability, motor dysfunction, speech impairment, hyperactivity, and frequent seizures. AS is caused by disruption of the maternally expressed and paternally imprinted UBE3A, which encodes an E3 ubiquitin ligase. Four mechanisms that render the maternally inherited UBE3A nonfunctional are recognized, the most common of which is deletion of the maternal chromosomal region 15q11-q13. Remarkably, duplication of the same chromosomal region is one of the few characterized persistent genetic abnormalities associated with autistic spectrum disorder, occurring in >1-2% of all cases of autism spectrum disorder. While the overall morphology of the brain and connectivity of neural projections appear largely normal in AS mouse models, major functional defects are detected at the level of context-dependent learning, as well as impaired maturation of hippocampal and neocortical circuits. While these findings demonstrate a crucial role for ubiquitin protein ligase E3A in synaptic development, the mechanisms by which deficiency of ubiquitin protein ligase E3A leads to AS pathophysiology in humans remain poorly understood. However, recent efforts have shown promise in restoring functions disrupted in AS mice, renewing hope that an effective treatment strategy can be found. PMID:26040994

  4. Pisa Syndrome.

    PubMed

    Michel, Sáenz Farret; Oscar, Arias Carrión; Correa, Thalia Estefania Sánchez; Alejandro, Pellene Luis; Micheli, Federico

    2015-01-01

    Lateral trunk flexion is often seen in patients with Parkinson disease, sometimes coming on as a subacute phenomenon associated with medication adjustments, and in others with gradual onset that seems related to a neurodegenerative process related to the evolution of the disease.Either acute or subacute presentations seem to be pure abnormalities in the coronal plane and are usually reversible. However, a chronic form occurs often in a combined fashion with anteroposterior flexion (camptocormia), improves only partially, remains stable, or even worsens over time.The acute/subacute phenotype is the condition originally named as Pisa syndrome (PS).The pathophysiology of PS remains poorly understood, and a cholinergic-dopaminergic imbalance has been suggested as being involved in the cause of this disorder. The role of other neurotransmitters and how they become dysfunctional in PS remains to be elucidated.Specific treatments, other than discontinuing the medications responsible for the disorder, whenever possible, are undeveloped because of the unknown etiology. PMID:26166239

  5. Eagle's Syndrome.

    PubMed

    Elimairi, Imad; Baur, Dale A; Altay, Mehmet Ali; Quereshy, Faisal A; Minisandram, Amritha

    2015-12-01

    Eagle's Syndrome (ES) refers to a symptomatic anomaly due to elongation of the styloid process or mineralization of the styloid complex. If not diagnosed timely and treated properly, elongation of the styloid process or the hyper-mineralization of the stylohyoid ligament may eventually lead to complete ossification of the stylohyoid complex. Non-specific head and neck symptoms of the ES may pose diagnostic challenges to the clinician. Therefore it is crucial to include ES among differential diagnosis when evaluating patients with similar head and neck symptoms. Once the diagnosis is confirmed, treatment plan should be tailored in accordance with the individual requirements of the case and performed without delay. Both pharmacological and surgical methods have been described for the treatment of the patients with ES. However for those who suffer from persistent symptoms, surgical removal of the elongated styloid process is the treatment of choice and can be done with an intraoral or an extraoral approach. The aim of this work is to present unusual clinical symptoms and radiologic findings of ES due to complete ossification of the stylohyoid complex. The importance of a correct diagnosis and appropriate treatment are highlighted. PMID:25537830

  6. Presentation of cauda equina syndrome during labour.

    PubMed

    Jones, Conor Stephen; Patel, Salil; Griffiths-Jones, William; Stokes, Oliver M

    2015-01-01

    Lumbar disc herniations are rare in pregnancy, with an incidence of 1:10?000. Less than 2% of these herniations result in cauda equina syndrome (CES). Diagnosing CES in pregnant patients can be difficult because changes in bladder and bowel habits are common in normal pregnancies. We present the case of a 29-year-old woman, with a history of lumbar radiculopathy, who presented at 39?weeks gestation with severe lower back and bilateral lower limb radiculopathy. Symptoms of CES began to develop only after the onset of labour. Diagnostic MRI was obtained following delivery and the patient was treated by microdiscectomy. Following surgery, bladder and bowel function began to normalise and at 3?months follow-up, she had made a full recovery. To the best of our knowledge, CES has never been reported to present during labour. This case highlights the diagnostic dilemma and need for a high index of suspicion. PMID:26581703

  7. Living with Marfan Syndrome

    MedlinePLUS

    ... avoid strenuous activities, such as weightlifting, skiing, and football. You also may need to avoid sports that ... of your child's Marfan syndrome. Pregnancy Many pregnant women who have Marfan syndrome have safe and normal ...

  8. Tourette Syndrome (For Parents)

    MedlinePLUS

    ... Tourette Syndrome Tourette syndrome (TS) is named for French doctor Georges Gilles de la Tourette, who first ... hyperactivity disorder (ADHD) or obsessive-compulsive disorder (OCD) . Learning disabilities and sleeping problems are also common in ...

  9. Carpal Tunnel Syndrome

    MedlinePLUS

    ... arm. Just a passing cramp? It could be carpal tunnel syndrome. The carpal tunnel is a narrow passageway of ... Women are three times more likely to have carpal tunnel syndrome than men. Early diagnosis and treatment are important ...

  10. Dubin-Johnson syndrome

    MedlinePLUS

    Dubin-Johnson syndrome is a disorder passed down through families (inherited) in which a person has mild jaundice throughout ... Dubin-Johnson syndrome is a very rare genetic disorder. In order to inherit the condition, a child must get ...

  11. Anisocoria and Horner's Syndrome

    MedlinePLUS

    ... In children, Horner’s syndrome may be caused by neuroblastoma, a tumor arising in another part of the body. Although rare, the risk of neuroblastoma is significantly greater with acquired Horner’s syndrome than ...

  12. Schwartz–Jampel syndrome

    PubMed Central

    Chandra, Sadanandavalli Retnaswami; Issac, Thomas Gregor; Gayathri, N.; Shivaram, Sumanth

    2015-01-01

    Schwartz–Jampel syndrome is a very rare congenital myotonic syndrome with typical phenotypic and electrophysiological features. Diagnosis is made by awareness into the typical phenotypic characters. PMID:26167227

  13. Learning about Klinefelter Syndrome

    MedlinePLUS

    ... may have enough normally functioning cells in the testes to allow them to father children. Klinefelter syndrome ... syndrome may have the following symptoms: small, firm testes, a small penis, sparse pubic, armpit and facial ...

  14. Restless legs syndrome

    MedlinePLUS

    ... restless legs syndrome: a systematic review and meta-analysis. Eur J Neurol. 2013;20:605-615. Wilt ... restless legs syndrome: a systematic review and meta-analysis. JAMA Internal Med. 2013;173:496-505.

  15. What Is Marfan Syndrome?

    MedlinePLUS

    ... on Marfan Syndrome? For More Information What Is Connective Tissue? Connective tissue supports many parts of your body. You can ... races and ethnic backgrounds. What Causes Marfan Syndrome? Connective tissue is made of many kinds of protein. One ...

  16. What Causes Cushing's Syndrome?

    MedlinePLUS

    ... Information Clinical Trials Resources and Publications What causes Cushing’s syndrome? Skip sharing on social media links Share this: ... uhs ), thyroid, or thymus How Tumors Can Cause Cushing’s Syndrome Normally, the pituitary gland in the brain controls ...

  17. Riley-Day syndrome

    MedlinePLUS

    Riley-Day syndrome is an inherited disorder that affects nerves throughout the body. ... Riley-Day syndrome is passed down through families (inherited). A person must inherit a copy of the defective gene ...

  18. Obesity Hypoventilation Syndrome

    MedlinePLUS

    ... Twitter. What Is Obesity Hypoventilation Syndrome? Obesity hypoventilation (HI-po-ven-tih-LA-shun) syndrome (OHS) is ... e-DE-mah), pulmonary hypertension (PULL-mun-ary HI-per-TEN-shun), cor pulmonale (pul-meh-NAL- ...

  19. Neonatal abstinence syndrome

    MedlinePLUS

    ... baby besides NAS. These may include: Birth defects Low birth weight Premature birth Small head circumference Sudden infant death syndrome (SIDS) Problems with development and behavior Neonatal abstinence syndrome can last from ...

  20. Guillain-Barré Syndrome

    MedlinePLUS

    ... knows what causes GBS, scientists do have some theories about the syndrome and why it surfaces in ... ON THIS TOPIC Why Should I Care About Germs? Strep Throat Chronic Fatigue Syndrome What's It Like ...

  1. Fragile X Syndrome.

    ERIC Educational Resources Information Center

    de la Cruz, Felix F.

    1985-01-01

    Physical, psychological, and cytogenic characteristics of individuals with the Fragile X syndrome are reviewed. Prospects for therapy with folic acid, prenatal diagnosis, phenotype of heterozygote for the marker X, and unresolved issues about the syndrome are discussed. (CL)

  2. Lennox-Gastaut Syndrome

    MedlinePLUS

    ... Lennox-Gastaut syndrome is a severe form of epilepsy. Seizures usually begin before 4 years of age. ... broad program of basic and clinical research on epilepsy including Lennox-Gastaut syndrome. These studies are aimed ...

  3. Restless Legs Syndrome

    MedlinePLUS

    ... What Is Restless Legs Syndrome? Restless legs syndrome (RLS) is a disorder that causes a strong urge ... urge and the unpleasant feelings. People who have RLS describe the unpleasant feelings as creeping, crawling, pulling, ...

  4. Restless Legs Syndrome

    MedlinePLUS

    ... What is Restless Legs Syndrome? Restless legs syndrome (RLS) is a neurological disorder characterized by unpleasant sensations ... may suggest a variety of medications to treat RLS, including dopaminergics, benzodiazepines (central nervous system depressants), opioids, ...

  5. An Investigation of Bilateral Symmetry During Manual Wheelchair Propulsion

    PubMed Central

    Soltau, Shelby L.; Slowik, Jonathan S.; Requejo, Philip S.; Mulroy, Sara J.; Neptune, Richard R.

    2015-01-01

    Studies of manual wheelchair propulsion often assume bilateral symmetry to simplify data collection, processing, and analysis. However, the validity of this assumption is unclear. Most investigations of wheelchair propulsion symmetry have been limited by a relatively small sample size and a focus on a single propulsion condition (e.g., level propulsion at self-selected speed). The purpose of this study was to evaluate bilateral symmetry during manual wheelchair propulsion in a large group of subjects across different propulsion conditions. Three-dimensional kinematics and handrim kinetics along with spatiotemporal variables were collected and processed from 80 subjects with paraplegia while propelling their wheelchairs on a stationary ergometer during three different conditions: level propulsion at their self-selected speed (free), level propulsion at their fastest comfortable speed (fast), and propulsion on an 8% grade at their level, self-selected speed (graded). All kinematic variables had significant side-to-side differences, primarily in the graded condition. Push angle was the only spatiotemporal variable with a significant side-to-side difference, and only during the graded condition. No kinetic variables had significant side-to-side differences. The magnitudes of the kinematic differences were low, with only one difference exceeding 5°. With differences of such small magnitude, the bilateral symmetry assumption appears to be reasonable during manual wheelchair propulsion in subjects without significant upper-extremity pain or impairment. However, larger asymmetries may exist in individuals with secondary injuries and pain in their upper extremity and different etiologies of their neurological impairment. PMID:26125019

  6. An Investigation of Bilateral Symmetry During Manual Wheelchair Propulsion.

    PubMed

    Soltau, Shelby L; Slowik, Jonathan S; Requejo, Philip S; Mulroy, Sara J; Neptune, Richard R

    2015-01-01

    Studies of manual wheelchair propulsion often assume bilateral symmetry to simplify data collection, processing, and analysis. However, the validity of this assumption is unclear. Most investigations of wheelchair propulsion symmetry have been limited by a relatively small sample size and a focus on a single propulsion condition (e.g., level propulsion at self-selected speed). The purpose of this study was to evaluate bilateral symmetry during manual wheelchair propulsion in a large group of subjects across different propulsion conditions. Three-dimensional kinematics and handrim kinetics along with spatiotemporal variables were collected and processed from 80 subjects with paraplegia while propelling their wheelchairs on a stationary ergometer during three different conditions: level propulsion at their self-selected speed (free), level propulsion at their fastest comfortable speed (fast), and propulsion on an 8% grade at their level, self-selected speed (graded). All kinematic variables had significant side-to-side differences, primarily in the graded condition. Push angle was the only spatiotemporal variable with a significant side-to-side difference, and only during the graded condition. No kinetic variables had significant side-to-side differences. The magnitudes of the kinematic differences were low, with only one difference exceeding 5°. With differences of such small magnitude, the bilateral symmetry assumption appears to be reasonable during manual wheelchair propulsion in subjects without significant upper-extremity pain or impairment. However, larger asymmetries may exist in individuals with secondary injuries and pain in their upper extremity and different etiologies of their neurological impairment. PMID:26125019

  7. Simultaneous bilateral robotic-assisted laparoscopic procedures in children.

    PubMed

    Kapoor, Victor; Elder, Jack S

    2015-12-01

    Our main objective is to report the feasibility of performing simultaneous robotic-assisted laparoscopic (RAL) heminephrectomy with contralateral ureteroureterostomy in children with bilateral duplicated systems. Three female children with bilateral congenital renal/ureteral anomalies underwent concurrent RAL simultaneous unilateral partial nephrectomy with ureterectomy and contralateral ureteroureterostomy with redundant ureterectomy using a four/five-port approach. Mean age at repair was 32.9 months (range 7-46 months) and mean weight was 13.7 kg (range 10.4-13.6 kg). The RAL heminephroureterectomy and contralateral ureteroureterostomy were performed via a four-port approach (five ports in one patient), and the patients were repositioned and draped when moving to the other side. Mean operative time was 446 min (range 356-503 min). Mean estimated blood loss was 23.3 cc (range 10-50 cc). Postoperative length of stay for two patients was 2 days and 1 day for one patient (mean = 1.7 days). Mean length of follow-up was 18.3 months (range 7-36 months). No significant intraoperative or postoperative complications occurred for any of the three patients. Two children had no hydronephrosis on postoperative imaging in follow-up, and one child had a small stable, residual pararenal fluid collection on the side of heminephrectomy. Two patients underwent postoperative ureteral stent removal under general anesthesia. In children with bilateral duplicated urinary tract with ureterocele, ectopic ureter, and/or vesicoureteral reflux, laparoscopic repair with robotic assistance can be accomplished safely in a single operative procedure with a short hospital stay. PMID:26530838

  8. Bilateral Vitreous Hemorrhage in Children: Clinical Features and Outcomes

    PubMed Central

    Sudhalkar, Aditya; Chhablani, Jay; Rani, Padmaja Kumari; Jalali, Subhadra; Balakrishnan, Divya; Tyagi, Mudit

    2015-01-01

    Purpose: To determine the etiology, clinical features and outcomes of bilateral vitreous hemorrhage (VH) in children. Methods: This retrospective chart review was performed on patients with bilateral VH under the age of 18 at a tertiary eye care center in India. Data included demographics, details of history and ocular examination, reports of investigations, surgeries or other interventions performed, and final anatomical and visual outcomes. Patients were divided into two groups i.e., traumatic and non-traumatic (spontaneous). Results: The traumatic group was comprised of 37 patients including 27 male and 10 female subjects with mean age of 13.47 ± 5.31 years, the most common complaint was decreased vision (96.45%) and the most prevalent etiology was firecracker injury in 16 (43.2%) patients. Mean baseline visual acuity (VA) was 2.34 ± 1.31 logMAR which was significantly improved to 1.08 ± 0.23 logMAR (P = 0.042). The mean number of surgeries was 2.72 ± 1.43 in the traumatic VH and mean follow up period was 23.14 ± 6.54 months. The spontaneous group included 48 subjects comprised of 27 male and 21 female cases with mean age of 14.48 ± 2.03 years. The most common cause was vasculitis in 21 (43.75%) subjects including four patients with tuberculosis. Mean baseline VA was 1.97 ± 1.13 logMAR which showed a significant improvement to 0.82 ± 0.24 logMAR (P = 0.012) after mean follow up of 34.2 ± 11.2 months. Eleven patients required at least one major surgery. Conclusion: Vasculitis was the most common cause of spontaneous bilateral VH; traumatic VH most prevalently occurred due to firecracker injury. Final VA was better in the spontaneous group. PMID:26425315

  9. Cochlear implantation in a patient with Epstein syndrome.

    PubMed

    Nishiyama, Nobuhiro; Kawano, Atsushi; Kawaguchi, Sachie; Shirai, Kyouko; Suzuki, Mamoru

    2013-08-01

    Epstein syndrome is a rare disease which is accompanied by nephritis, sensorineural hearing impairment and macrothrombocytopenia. It has been suggested that this syndrome is a hereditary disease associated with mutations in MYH9, which encodes non-muscle myosin heavy chain IIA. We report a case of a patient with Epstein syndrome in whom bilateral profound hearing impairment developed and who had undergone cochlear implantation 9 years previously. Prior to this, the patient showed progressive sensorineural hearing impairment and had become completely deaf by the age of 25. A cochlear implant was successfully used with a speech discrimination score of 98% (sentence test). However, in the present case, peri- and postoperative complications occurred: tympanic perforation remained after a promontory stimulation test, followed by transitory otitis with purulent discharge. Therefore, tympanoplasty was performed simultaneously with cochlear implantation. These complications were considered to be caused by platelet dysfunction and delayed wound healing. Furthermore, cochlear destruction was observed 8 years postoperatively. In Epstein syndrome, the mechanism of osseous change remains uncertain. To the best of our knowledge, this is the first case report of Epstein syndrome in a patient with long-term use of a CI. PMID:22854055

  10. Beckwith-Wiedemann syndrome and juvenile fibroadenoma: a case report.

    PubMed

    Poh, Melissa M; Ballard, Tiffany N; Wendel, J Jason

    2010-06-01

    Beckwith-Wiedemann syndrome (BWS) is a complex overgrowth disorder usually recognized at birth. Children diagnosed with BWS, particularly those with hemihypertrophy, experience an increased risk of developing benign and malignant tumors. This case report presents a 12-year-old girl with BWS and hemihypertrophy who rapidly developed enlarging, asymmetric tumors of bilateral breasts. Few cases of patients with BWS and benign breast tumors exist in the literature. The differential diagnosis of breast tumors in the adolescent female is described. The treatment plan and reconstruction options particular to the developing young female are also discussed. PMID:20506580

  11. Ewing Sarcoma in a Patient With Cowden Syndrome.

    PubMed

    Chandhanayingyong, Mod C; Bernthal, Nicholas M; Ungarreevittaya, Piti; Nelson, Scott D; Chawla, Sant P; Singh, Arun S

    2015-11-01

    A 47-year-old woman, initially diagnosed in 1996 with Cowden syndrome (CS), PTEN-mutant bilateral breast cancer, a thyroid nodule, and uterine fibroids, presented to UCLA in 2013 with Ewing sarcoma of the pelvic bone. Her treatment course included mastectomies, hysterectomy/oophorectomy, and total thyroid resection, and chemotherapy, radiation, and hemipelvectomy for Ewing sarcoma. This case report illustrates the unusual presentation of Ewing sarcoma in a patient with PTEN-mutant CS, the probable underlying molecular pathogenesis, long-term management, and therapeutic considerations. PMID:26553762

  12. Bilateral Systematized Epidermolytic Verrucous Epidermal Nevus: A Rare Entity

    PubMed Central

    Mishra, Vivek; Saha, Abanti; Bandyopadhyay, Debabrata; Das, Anirban

    2015-01-01

    Verrucous epidermal nevi are congenital, noninflammatory cutaneous hamartomas composed of keratinocytes. They follow the lines of Blaschko and show hyperkeratosis without cellular atypia. The routine histology shows variable amount of hyperkeratosis, acanthosis and papillomatosis and rarely epidermolytic hyperkeratosis. We saw a 3-year-old boy with bilaterally symmetrical, systematized verrucous plaques along the lines of Blaschko extensively involving the trunk and extremities but sparing the face and palmoplantar skin. Histopathology showed features of epidermal nevi with prominent epidermolytic hyperkeratosis. We report here the case for the rarity of this entity. PMID:26288413

  13. Linear Darier's disease: A case with bilateral presentation

    PubMed Central

    Bordoloi, Anal Jyoti; Barua, Khagendra Narayan

    2015-01-01

    Darier's disease is an autosomal dominant genodermatosis characterized by a persistent eruption of hyperkeratotic greasy papules mainly over the seborrheic sites of the body, usually associated with nail abnormalities and sometimes with mucous membrane lesions. The lesions typically occur in the younger age group and are associated with pruritus. We report here an atypical case of Linear Darier's disease with bilateral presentation in a middle-aged adult that could be confused with conditions such as lichen planus, inflammatory linear verrucous epidermal nevus, and wart. PMID:26500868

  14. Bilateral Mycobacterium abscessus keratitis after laser in situ keratomileusis.

    PubMed

    Giaconi, JoAnn; Pham, Randal; Ta, Christopher N

    2002-05-01

    A 35-year-old man was diagnosed with Mycobacterium abscessus keratitis in the left eye 3 weeks after bilateral laser in situ keratomileusis (LASIK). Infection in the right eye developed 6 weeks after surgery. Despite aggressive treatment with topical amikacin and clarithromycin and oral clarithromycin, the infection progressed in both eyes. To improve antibiotic penetration, the LASIK flap was removed in both eyes. Culture positivity was prolonged; however, after 8 weeks of intensive topical antibiotics, the infection was eradicated. The final best corrected visual acuity was 20/30 in both eyes. PMID:11978473

  15. Precedence based speech segregation in bilateral cochlear implant users

    PubMed Central

    Hossain, Shaikat; Montazeri, Vahid; Assmann, Peter F.; Litovsky, Ruth Y.

    2015-01-01

    The precedence effect (PE) enables the perceptual dominance by a source (lead) over an echo (lag) in reverberant environments. In addition to facilitating sound localization, the PE can play an important role in spatial unmasking of speech. Listeners attending to binaural vocoder simulations with identical channel center frequencies and phase demonstrated PE-based benefits in a closed-set speech segregation task. When presented with the same stimuli, bilateral cochlear implant users did not derive such benefits. These findings suggest that envelope extraction in itself may not lead to a breakdown of the PE benefits, and that other factors may play a role. PMID:26723365

  16. Bilateral and multiple cavitation sounds during upper cervical thrust manipulation

    PubMed Central

    2013-01-01

    Background The popping produced during high-velocity, low-amplitude (HVLA) thrust manipulation is a common sound; however to our knowledge, no study has previously investigated the location of cavitation sounds during manipulation of the upper cervical spine. The primary purpose was to determine which side of the spine cavitates during C1-2 rotatory HVLA thrust manipulation. Secondary aims were to calculate the average number of pops, the duration of upper cervical thrust manipulation, and the duration of a single cavitation. Methods Nineteen asymptomatic participants received two upper cervical thrust manipulations targeting the right and left C1-2 articulation, respectively. Skin mounted microphones were secured bilaterally over the transverse process of C1, and sound wave signals were recorded. Identification of the side, duration, and number of popping sounds were determined by simultaneous analysis of spectrograms with audio feedback using custom software developed in Matlab. Results Bilateral popping sounds were detected in 34 (91.9%) of 37 manipulations while unilateral popping sounds were detected in just 3 (8.1%) manipulations; that is, cavitation was significantly (P < 0.001) more likely to occur bilaterally than unilaterally. Of the 132 total cavitations, 72 occurred ipsilateral and 60 occurred contralateral to the targeted C1-2 articulation. In other words, cavitation was no more likely to occur on the ipsilateral than the contralateral side (P = 0.294). The mean number of pops per C1-2 rotatory HVLA thrust manipulation was 3.57 (95% CI: 3.19, 3.94) and the mean number of pops per subject following both right and left C1-2 thrust manipulations was 6.95 (95% CI: 6.11, 7.79). The mean duration of a single audible pop was 5.66?ms (95% CI: 5.36, 5.96) and the mean duration of a single manipulation was 96.95?ms (95% CI: 57.20, 136.71). Conclusions Cavitation was significantly more likely to occur bilaterally than unilaterally during upper cervical HVLA thrust manipulation. Most subjects produced 3–4 pops during a single rotatory HVLA thrust manipulation targeting the right or left C1-2 articulation; therefore, practitioners of spinal manipulative therapy should expect multiple popping sounds when performing upper cervical thrust manipulation to the atlanto-axial joint. Furthermore, the traditional manual therapy approach of targeting a single ipsilateral or contralateral facet joint in the upper cervical spine may not be realistic. PMID:23320608

  17. Bilateral Blindness Following Chemoradiation for Locally Advanced Oropharyngeal Carcinoma

    PubMed Central

    Zeng, K. Liang; Kuruvilla, Sara; Sanatani, Michael

    2015-01-01

    Wernicke's encephalopathy is a life-threatening neurologic complication of thiamine deficiency. Though the presentation of symptoms can vary widely, the classical triad is founded on ophthalmoplegia, alteration of mental status, and gait disturbance. We describe a case of Wernicke's encephalopathy in an oncology patient shortly after concurrent 5-fluorouracil, carboplatin, and radiotherapy for locally advanced oropharyngeal cancer, presenting as complete bilateral blindness, ataxia, nystagmus, and confusion. Thiamine was given based on clinical suspicion and rapid improvement of clinical findings occurred. An MRI performed later supported the diagnosis of Wernicke's encephalopathy. A multifactorial etiology of thiamine deficiency from nutritional deficits and neurotoxic effects of chemotherapy are hypothesized. PMID:26623207

  18. Object-Coordinate-Based Bilateral Control System Using Visual Information

    NASA Astrophysics Data System (ADS)

    Nakajima, Yu; Nozaki, Takahiro; Oyamada, Yuji; Ohnishi, Kouhei

    In the field of teleoperation, visual or tactile information obtained by the operators is restricted (e. g., limited or delayed sight) because of communication constraints. Therefore, it is difficult for the operators to operate the system. In this paper, a bilateral control system using the environmental information about the position and posture of a target as obtained by a camera is proposed. The proposed method reduces the workload of the operators by taking some of their tasks. An experiment is conducted to prove the benefit of the proposed method by using a 1-DOF master robot and a 2-DOF slave robot.

  19. Minimally Invasive Parathyroidectomy Versus Bilateral Neck Exploration for Primary Hyperparathyroidism.

    PubMed

    Laird, Amanda M; Libutti, Steven K

    2016-01-01

    Primary hyperparathyroidism is a disease that is caused by excess parathyroid hormone (PTH) secretion from 1 or more of the parathyroid glands. Surgery is the only cure. Traditional surgical management consists of a 4-gland cervical exploration. Development of imaging specific to identification of parathyroid glands and application of the rapid PTH assay to operative management have made more minimal exploration possible. There are distinct advantages and disadvantages of minimally invasive parathyroidectomy (MIP) and bilateral neck exploration (BNE). The advantages of MIP seem to outweigh those of BNE, and MIP has replaced BNE as the operation of choice by many surgeons. PMID:26610777

  20. Acute Lymphocytic Leukemia with Bilateral Renal Masses Masquerading as Nephroblastomatosis

    PubMed Central

    Thakore, Poonam; Aljabari, Salim; Turner, Curtis; Vasylyeva, Tetyana L.

    2015-01-01

    Acute lymphoblastic leukemia (ALL) is the most common malignancy in the pediatric patient population. However, renal involvement as the primary manifestation of ALL is rare. We report a case of a 4-year-old boy with bilateral renal lesions resembling nephroblastic rests as the first finding of early stage ALL preceding hematological changes and subsequent classic clinical findings by two weeks. These renal hypodensities completely resolved after one week of induction chemotherapy. This case demonstrates that renal involvement can be the only initial presenting finding of leukemia. Children with lesions resembling nephroblastic rests need appropriate surveillance due to the risk of malignant disease. PMID:26613060

  1. Complete bilateral gemination of maxillary incisors with separate root canals.

    PubMed

    Mahendra, Lodd; Govindarajan, Sujatha; Jayanandan, Muruganandhan; Shamsudeen, Shaik Mohammed; Kumar, Nalin; Madasamy, Ramasamy

    2014-01-01

    Developmental anomalies in the hard tissue are seen frequently in dental practice. Gemination and fusion are the most commonly encountered anomalies, and distinction between the two is always challenging. Gemination, also called double tooth, is an anomaly exhibiting two joined crowns and usually a single root. It represents an incomplete attempt of a single tooth germ to split. It is considered multifactorial in etiology, with genetic and environmental causes. This paper discusses a rare example of bilateral gemination (prevalence 0.04%) of maxillary central incisors with completely separated roots. Multidisciplinary care ensured a successful esthetic and functional outcome. PMID:25254121

  2. Lithium Battery Ingestion: An Unusual Cause of Bilateral Cord Palsy

    PubMed Central

    Singh, Gautam Bir; Chauhan, Ravinder; Kumar, Deepak; Arora, Rubeena; Ranjan, Shruti

    2015-01-01

    Bilateral vocal cord palsy is a rare but life threatening complication of lithium battery ingestion in children. This complication is mostly missed by otorhinolaryngologists due to lack of awareness on the cited subject. We present one such rare case in an infant, where the clinical presentation was found to be unique but hitherto unreported in the medical literature. This clinical record discusses this case in light of the scant current medical literature on the subject and highlights the importance of cautious monitoring of patients presenting with signs of respiratory distress after lithium battery removal. PMID:26457218

  3. Dual arm master controller for a bilateral servo-manipulator

    SciTech Connect

    Kuban, D.P.; Perkins, G.S.

    1989-11-28

    A master controller for a mechanically dissimilar bilateral slave servo-manipulator is disclosed. The master controller includes a plurality of drive trains comprising a plurality of sheave arrangements and cables for controlling upper and lower degrees of master movement. The cables and sheaves of the master controller are arranged to effect kinematic duplication of the slave servo-manipulator, despite mechanical differences there between. A method for kinematically matching a master controller to a slave servo-manipulator is also disclosed. 13 figs.

  4. Bilateral horizontal Vogt’s striae in keratoconus

    PubMed Central

    Güngör, ?nci Ulu; Beden, Ümit; Sönmez, Bari?

    2008-01-01

    Purpose To report a keratoconus case with bilateral horizontal Vogt’s striae. Method The clinical findings of the patient and the development of the direction of striae are discussed. Results Vogt’s striae, defined as vertical stress lines, are rarely horizontal. One patient with unilateral horizontal stress lines on his left eye has been reported in the literature. Our patient has horizontal Vogt’s striae in both eyes. Conclusion Horizontal Vogt’s striae may be seen in keratoconus as a rare slit-lamp biomicroscopic finding. PMID:19668769

  5. Benign Lymphoid Hyperplasia Presenting as Bilateral Scleral Nodules

    PubMed Central

    Cumba, Ricardo J.; Vazquez-Botet, Rene

    2015-01-01

    Purpose. To report a case of transient lymphoid hyperplasia presenting as bilateral nodular scleral mass in a young male patient. Design. Observational case report. Methods. Chart review. Causes of scleritis were considered and excluded based on detailed history, physical examination, and laboratory investigations. Results. Excisional biopsy of scleral lesions indicated lymphoid tissue. Immunohistochemical studies revealed a polyclonal population of T and B cells consistent with a benign reactive process. Conclusions. Chronic exposure of the ocular adnexa to many allergens and irritants may lead to activation of the inflammatory cascade. In severely allergic patients activation may be exponential and elicit an immune-mediated response resulting in a transient lymphoid reactive process. PMID:26421203

  6. Bilateral dens invaginatus in the mandibular premolars – Diagnosis and treatment

    PubMed Central

    Kharangate, Nupur; Figueiredo, Nigel R.; Fernandes, Marina; Lambor, Rajan

    2015-01-01

    Dens invaginatus (DI) is a developmental anomaly that results from an infolding of the dental papilla during tooth development and simulates the appearance of a tooth within another tooth. It shows a wide spectrum of variations in morphology and usually affects the maxillary lateral incisors. This study presents an unusual case of an Oehlers’ Type I DI involving the bilateral mandibular first and second premolars, which presented as an incidental radiographic finding in the first premolars and was associated with a periapical lesion in the second premolars which was successfully treated using nonsurgical endodontics. PMID:26321850

  7. Premature aging in RecQ helicase-deficient human syndromes.

    PubMed

    Mohaghegh, Payam; Hickson, Ian D

    2002-11-01

    The RecQ family of DNA helicases have potential roles in DNA repair, replication and/or recombination pathways. In humans, a defect in the RecQ family helicases encoded by the BLM, WRN and RECQ4 genes gives rise to Bloom's (BS), Werner's (WS) and Rothmund-Thomson (RTS) syndromes, respectively. These disorders are associated with cancer predisposition and/or premature aging. In Bloom's syndrome, affected individuals are predisposed to many types of cancer at an early age. Werner's syndrome is a premature aging disorder with a complex phenotype, which includes many age-related disorders that develop from puberty, including greying and thinning of the hair, bilateral cataract formation, type II diabetes mellitus, osteoporosis and atherosclerosis. The phenotype of Rothmund-Thomson syndrome patients also consists of some features associated with premature aging, as well as predispositon to certain cancers. Here, we discuss the molecular basis of these RecQ helicase-deficient disorders. PMID:12200042

  8. Unusual manifestations of ectodermal dysplasia-syndactyly syndrome type I in two Yemeni siblings.

    PubMed

    Mohammad, Alshami

    2015-01-01

    Ectodermal dysplasias (EDs) are a group of genodermatoses characterized by malformations of tissues derived from the ectoderm, including the skin, its appendages (hair, nails, sweat glands), teeth, and the breasts. Ectodermal dysplasia syndactyly syndrome (EDSS) is a rare, newly described type of ED involving syndactyly. We report 2 Yemeni siblings with typical EDSS manifestations, including bilateral, partial cutaneous syndactyly of the fingers and toes; sparse, coarse, brittle scalp hair, eyebrows, and eyelashes; and conical, widely spaced teeth with enamel notches. In addition, the siblings presented with other features hitherto not described for this syndrome, such as adermatoglyphia, onychogryphosis, hypoplastic widely spaced nipples, hypoplastic thumbs, and red scalp hair. PMID:25612123

  9. [Ophthalmological manifestations of Cornelia de Lange syndrome: Case report and review of the literature].

    PubMed

    Avgitidou, G; Cursiefen, C; Heindl, L M

    2015-05-01

    A 2-year-old boy suffering from Cornelia de Lange syndrome, presented with mucopurulent ocular discharge and epiphora since birth. Irrigation and probing of the nasolacrimal system revealed and successfully treated bilateral nasolacrimal duct obstructions. Cornelia de Lange syndrome is characterized not only by typical facial features, visceral and urogenital anomalies but also by ophthalmological manifestations in 99% of cases. The most common ophthalmological disorders are synophrys, blepharitis, epiphora, hypertrichosis of the eyebrows and eyelashes, myopia, ptosis and nasolacrimal duct obstruction. PMID:25566737

  10. A case of Goldenhar-Gorlin syndrome with unusual association of hypoplastic thumb

    PubMed Central

    Ray, Biswarup; Das, Debabrata; Das, Somnath

    2008-01-01

    A case of Goldenhar-Gorlin syndrome in a seven-month-old male infant presented with the features of epibulbar dermoid, microtia and hemifacial microsomia associated with thumb defect. The dermoid was bilateral and microtia was unilateral. Preauricular appendages and pits were double and single respectively on both the sides. Hemifacial microsomia was unilateral and was associated with cleft lip, macrostomia, dental misalignment, large tongue and high arched palate. The association of hypoplastic thumb with Goldenhar-Gorlin syndrome has not been documented in the past. PMID:18292629

  11. CONSTIPATION IN RETT SYNDROME

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Gastrointestinal problems occur frequently in girls with Rett syndrome. Constipation is a common problem in girls with Rett syndrome because of their neurological abnormalities. Research studies to better understand the abnormalities of large bowel function in our girls with Rett syndrome have not b...

  12. A study of the causes of bilateral optic disc swelling in Japanese patients

    PubMed Central

    Iijima, Kei; Shimizu, Kimiya; Ichibe, Yoshiaki

    2014-01-01

    Purpose To investigate the etiology of bilateral disc swelling in Japanese. Methods Using Kitasato University’s Department of Neuro-Ophthalmology medical records and fundus photographs of the period December 1977 through November 2010, we retrospectively identified 121 outpatients who had been initially confirmed with bilateral disc swelling. Results The most common cause of the bilateral disc swelling was increased intracranial pressure (ICP) (59%); followed by pseudopapillitis (16%); uveitis (8%); hypertensive retinopathy (5%); bilateral optic neuritis, acute disseminated encephalomyelitis (ADEM) and optic disc drusen (all at 2% each); and leukemia (1%). Unknown etiology accounted for 6% of the cases. Conclusion Although increased ICP is the most common etiology for bilateral disc swelling, it can also be triggered by a variety of other causes. Pseudopapillitis is the most important progenitor of bilateral disc swelling in Japanese. PMID:25031527

  13. Uveodermatologic syndrome concurrent with keratoconjunctivitis sicca in a miniature poodle dog

    PubMed Central

    Kang, Min-Hee; Lim, Chae-Young; Park, Hee-Myung

    2014-01-01

    A 5-year-old, intact female miniature poodle dog was presented with chronic ophthalmic problems, facial poliosis, nasal depigmentation and multiple areas of alopecia over the trunk. Bilateral uveitis preceded dermatologic signs by 5 months and gradually worsened. The dog was diagnosed as having uveodermatologic syndrome (UDS) concurrent with keratoconjunctivitis sicca (KCS). Treatment with immunosuppressive drugs resolved the dermatologic lesions, but uveitis continued to progress. PMID:24891645

  14. Recurrent respiratory infections and unusual radiology: a woman with Kartagener's syndrome.

    PubMed

    Ronnevi, Cecilia; Ortiz-Villalon, Cristian; Pawlowski, Jacek; Ferrara, Giovanni

    2015-01-01

    A 39-year-old woman with known situs inversus and a medical history of asthma had been suffering from recurring bronchial pneumonias and sinusitis for as long as she could remember. After being treated several times with antibiotics due to the frequent respiratory infections and after a CT scan that showed bilateral bronchiectasis, she was referred to the department of respiratory diseases, where another confirming X-ray and a bronchoscopy were performed based on a suspicion of Kartagener's syndrome. PMID:26354839

  15. Extended phenotypes in a boy and his mother with oto-palato-digital-syndrome type II

    PubMed Central

    Kaissi, Ali Al; Kraschl, Raimund; Kaulfersch, Wilhelm; Grill, Franz; Ganger, Rudolf

    2015-01-01

    Key Clinical Message We describe additional phenotypic features in a boy and his mother. Both manifested the phenotypic/genotypic correlation of oto-palato-digital syndrome type II. The mother?s radiographs showed wormian bones of the skull, and paranasal bossing, her feet showed bilateral fusion of the cuboid with the lateral cuneiform bone with subsequent development of metatarsus varus associated with dysplastic distal phalanges. PMID:26401283

  16. The Axenfeld syndrome and the Rieger syndrome.

    PubMed Central

    Fitch, N; Kaback, M

    1978-01-01

    A family is reported in which both the syndrome of Axenfeld and the eye malformations of the syndrome of Rieger occur, indicating that both may be expressions of the same gene. We also review the associated anomalies already reported, emphasise their high incidence, suggest that these are not accidental associations, and propose some possible explanations for the high incidence. Images PMID:416212

  17. Artery of Percheron Infarction as an Unusual Cause of Korsakoff's Syndrome.

    PubMed

    Zhou, Yongxing; Fox, Derrick; Anand, Abhishek; Elhaj, Amal; Kapoor, Arushi; Najibi, Faranak; Kim, Han; Weir, Roger; Jayam-Trouth, Annapurni

    2015-01-01

    The Korsakoff syndrome is defined as "an abnormal mental state in which memory and learning are affected out of all proportion to other cognitive functions in an otherwise alert and responsive patient." Confabulation refers to false or erroneous memories arising, not deliberately, in the context of a neurological amnesia and is often thought of as pathognomonic of the Korsakoff syndrome. Although the exact pathophysiology is unknown, various studies have identified brain lesions in the thalami, mammillary bodies, and frontal cortex. We report a case of a 68-year-old male presenting with acute altered mental status on July 16, 2015. The neuropsychological dysfunctions included prominent Korsakoff's syndrome, which became apparent when the altered mental status resolved. Amnesia was accompanied by prominent confabulation, disorientation, and lack of insight into his own disability. Neuroradiological data indicated that the intralaminar and dorsomedial nuclei in bilateral thalami were infarcted by occlusion of the artery of Percheron. We believe that ours is one of few reported cases of Korsakoff syndrome in a patient with infarction involving the territory of the artery of Percheron. We conclude that bilateral thalamic lesions could cause Korsakoff's syndrome and the intralaminar and dorsomedial nuclei might be important structures in the pathogenesis of confabulation. PMID:26688763

  18. Artery of Percheron Infarction as an Unusual Cause of Korsakoff's Syndrome

    PubMed Central

    Zhou, Yongxing; Fox, Derrick; Anand, Abhishek; Elhaj, Amal; Kapoor, Arushi; Najibi, Faranak; Kim, Han; Weir, Roger; Jayam-Trouth, Annapurni

    2015-01-01

    The Korsakoff syndrome is defined as “an abnormal mental state in which memory and learning are affected out of all proportion to other cognitive functions in an otherwise alert and responsive patient.” Confabulation refers to false or erroneous memories arising, not deliberately, in the context of a neurological amnesia and is often thought of as pathognomonic of the Korsakoff syndrome. Although the exact pathophysiology is unknown, various studies have identified brain lesions in the thalami, mammillary bodies, and frontal cortex. We report a case of a 68-year-old male presenting with acute altered mental status on July 16, 2015. The neuropsychological dysfunctions included prominent Korsakoff's syndrome, which became apparent when the altered mental status resolved. Amnesia was accompanied by prominent confabulation, disorientation, and lack of insight into his own disability. Neuroradiological data indicated that the intralaminar and dorsomedial nuclei in bilateral thalami were infarcted by occlusion of the artery of Percheron. We believe that ours is one of few reported cases of Korsakoff syndrome in a patient with infarction involving the territory of the artery of Percheron. We conclude that bilateral thalamic lesions could cause Korsakoff's syndrome and the intralaminar and dorsomedial nuclei might be important structures in the pathogenesis of confabulation. PMID:26688763

  19. Treatment of otorhinolaryngological manifestations of three rare genetic syndromes: Branchio-Oculo-Facial (BOF), Ectrodactyly Ectodermal dysplasia Clefting (EEC) and focal dermal hypoplasia (Goltz syndrome).

    PubMed

    Skarzynski, Henryk; Podskarbi-Fayette, Robert

    2009-01-01

    Genetic background and characteristic symptoms of three children with rare genetic syndromes: Ectrodactyly Ectodermal dysplasia Clefting (EEC), Branchio-Oculo-Facial (BOF) and focal dermal hypoplasia (Goltz syndrome) were outlined. All patients presented common otorhinolaryngological features of bilateral hearing impairment and dermal problems. Diagnostic protocol and treatment strategies for all three syndromes were presented and discussed. Skin lesions of the head and neck and degree of hearing loss were identified in clinical examination and by audiological methods. Treatment of hypoacousis and skin disorders were the primary issues in presented cases. In both the EEC syndrome and FDH our priority was to achieve and maintain hearing at the level of social efficiency. Patient with the Branchio-Oculo-Facial syndrome received a cochlear implant at the age of 12 months and was surgically treated for bilateral retroauricular fistulas. In both cases of dysplasia conservative treatment and otosurgery were applied. Results of treatment after 12 months are presented. In all patients hearing result provided good social skills in communication and a good local condition was achieved. Possibilities for future interventions were mentioned and necessity for medical follow-up and rehabilitation were stressed as key issues in maintaining results achieved with treatment presented in this study. Patient with FDH underwent CO(2) laser treatment for papillomatous lesions on her face and neck. Good aesthetic result without recurrence in follow-up examinations was achieved. Baby with the Branchio-Oculo-Facial syndrome is rehabilitated in our Cochlear Implant Center and the fistulas have healed without complications. Due to the rarity and multiplicity of symptoms in presented syndromes a standard therapy has not been established yet. However, it is of crucial importance in such cases to focus on hearing improvement in order to reach and maintain hearing at the level of social communication. PMID:19012972

  20. Recessive COL25A1 mutations cause isolated congenital ptosis or exotropic Duane syndrome with synergistic divergence.

    PubMed

    Khan, Arif O; Al-Mesfer, Saleh

    2015-10-01

    Congenital cranial dysinnervation disorders are phenotypes of incomitant strabismus and/or ptosis. Recessive mutations in COL25A1 are a recently reported cause, but the associated ophthalmic phenotypes have not been detailed. We highlight phenotypes of the 4 affected children from the 2 reported families: isolated congenital ptosis (one unilateral, one bilateral) and Duane syndrome (one unilateral, one bilateral) with synergistic divergence. Further study is needed to understand how frequently recessive COL25A1 mutations underlie these specific ocular phenotypes. PMID:26486031