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Sample records for canal syndrome due

  1. Síndrome do canal de Guyon causada por cisto sinovial Guyon's canal syndrome due to a synovial cyst

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    Evandro Silva Ruas

    2010-01-01

    Full Text Available Apresentamos um caso de síndrome do canal de Guyon por um cisto sinovial no punho esquerdo de uma paciente do sexo feminino, de 48 anos. A paciente apresentava dor e parestesia na topografia do nervo ulnar, diminuição da força muscular e deformidade na mão esquerda. A eletroneuromiografia evidenciava compressão do nervo ulnar no nível do punho. Realizada a ressecção do cisto e descompressão do nervo no canal de Guyon. Após a cirurgia a paciente apresentou melhora da dor e da parestesia, além de aumento do trofismo muscular e correção da deformidade.The authors present a case of Guyon's canal syndrome due to a synovial cyst within the left wrist of a 48-year-old female patient. The patient reported pain and paresthesia in the topography of the ulnar nerve, loss of muscular strength and left hand deformity. Electromyography showed a compression of the ulnar nerve at the wrist level. Surgical decompression at the Guyon canal with resection of the cyst was performed. After surgery, the patient presented with improvement of pain and paresthesia, as well as an increase in muscular trophism and correction of the deformity.

  2. Ulnar nerve entrapment in Guyon's canal due to recurrent carpal tunnel syndrome: case report.

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    Ozdemir, Ozgur; Calisaneller, Tarkan; Gulsen, Salih; Caner, Hakan

    2011-01-01

    Guyon's canal syndrome is a compression neuropathy of the ulnar nerve entrapment at the wrist. Compression of the ulnar nerve at the wrist by a ganglion, lipomas, diseases of the ulnar artery, fractures of the hamate and trauma are common etiologcal factors. Unlike Guyon's canal syndrome, carpal tunnel syndrome (CTS) is the most common nerve entrapment of the upper extremity. Although, open (OCTR) or endoscopic carpal tunnel release (ECTR) is highly effective in relieving pain, failure with carpal tunnel release is seldom seen. In this paper, we presented a patient with ulnar nerve entrapment associated with recurrent CTS and discussed the possible pathomechanism with a review of current literature.

  3. Guyons canal syndrome due to accessory palmaris longus muscle: aetiological classification: a case report

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    Lal, Ramavath Ashok; Raj, Sakamuri

    2009-01-01

    Introduction Accessory muscles and anatomic variations are well described at the Guyon's canal. Though this case report is similar to variants published in previous reports, it differs from the rest due to rapidity of worsening of symptoms in few months following use of cane. Case presentation We report a case of 69 year old man with ulnar nerve compression at Guyon's canal by accessory palmaris longus arose from distal third palmaris longus and from deep fascia of forearm. The hypertrophied ...

  4. Guyon's canal syndrome due to tortuous ulnar artery with DeQuervain stenosing tenosynovitis, ligamentous injuries and dorsal intercalated segmental instability syndrome, a rare presentation: a case report

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    Zeeshan, Muhammad; Ahmed, Farhan; Kanwal, Darakhshan; Khalid, Qazi Saad Bin; Ahmed, Muhammad Nadeem

    2009-01-01

    The Guyon's canal syndrome is a well known clinical entity and may have significant impact on patient's quality of life. We report a case of 43-year-old male who presented with complaints of pain and numbness in right hand and difficulty in writing for past one month. On imaging diagnosis of Guyon's canal syndrome because of tortuous ulnar artery was made with additional findings of DeQuervain's stenosing tenosynovitis and dorsal intercalated segmental instability syndrome with ligamentous in...

  5. Guyon's canal syndrome due to tortuous ulnar artery with DeQuervain stenosing tenosynovitis, ligamentous injuries and dorsal intercalated segmental instability syndrome, a rare presentation: a case report.

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    Zeeshan, Muhammad; Ahmed, Farhan; Kanwal, Darakhshan; Khalid, Qazi Saad Bin; Ahmed, Muhammad Nadeem

    2009-12-23

    The Guyon's canal syndrome is a well known clinical entity and may have significant impact on patient's quality of life. We report a case of 43-year-old male who presented with complaints of pain and numbness in right hand and difficulty in writing for past one month. On imaging diagnosis of Guyon's canal syndrome because of tortuous ulnar artery was made with additional findings of DeQuervain's stenosing tenosynovitis and dorsal intercalated segmental instability syndrome with ligamentous injury and subsequently these were confirmed on surgery.Although it is a rare syndrome, early diagnosis and treatment prevents permanent neurological deficits and improve patient's quality of life.

  6. Ulnar nerve entrapment in Guyon's canal due to a lipoma.

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    Ozdemir, O; Calisaneller, T; Gerilmez, A; Gulsen, S; Altinors, N

    2010-09-01

    Guyon's canal syndrome is an ulnar nerve entrapment at the wrist or palm that can cause motor, sensory or combined motor and sensory loss due to various factors . In this report, we presented a 66-year-old man admitted to our clinic with a history of intermittent pain in the left palm and numbness in 4th and 5th finger for two years. His neurological examination revealed a sensory impairment in the right fifth finger. Also, physical examination displayed a subcutaneous mobile soft tissue in ulnar side of the wrist. Electromyographic examination confirmed the diagnosis of type-1 Guyon's canal syndrome. Under axillary blockage, a lipoma compressing the ulnar nerve was excised totally and ulnar nerve was decompressed. The symptoms were improved after the surgery and patient was symptom free on 3rd postoperative week.

  7. Tullio phenomenon in superior semicircular canal dehiscence syndrome.

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    Basura, Gregory J; Cronin, Scott J; Heidenreich, Katherine D

    2014-03-18

    Tullio phenomenon refers to eye movements induced by sound.(1) This unusual examination finding may be seen in superior semicircular canal dehiscence (SSCD) syndrome.(2) This disorder is due to absent bone over the superior semicircular canal (figure). Patients complain of dizziness triggered by loud sound, aural fullness, autophony, and pulsatile tinnitus. When Tullio phenomenon exists in SSCD syndrome, the patient develops a mixed vertical-torsional nystagmus in which the slow phase rotates up and away from the affected ear (video on the Neurology® Web site at Neurology.org). This pattern of nystagmus aligns in the plane of the dehiscent semicircular canal and is due to excitation of its afferent nerves.

  8. A Guyon's canal ganglion presenting as occupational overuse syndrome: A case report.

    LENUS (Irish Health Repository)

    Chan, Jeffrey C Y

    2008-01-01

    Occupational overuse syndrome (OOS) can present as Guyon\\'s canal syndrome in computer keyboard users. We report a case of Guyon\\'s canal syndrome caused by a ganglion in a computer user that was misdiagnosed as OOS.

  9. Congenital defect of the partial atrioventricular canal with Klinefelter syndrome

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    Zhang, Yejing

    2009-01-01

    The case of a 25-year-old man with a partial atrioventricular canal defect (PAVCD) with Klinefelter syndrome is reported here. The patient had Klinefelter syndrome associated with an atrial septal defect and the cleft of the anterior leaflet of the mitral valve.

  10. Lipoma causing Guyon's canal syndrome: a case report and review

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    Narayanathu Chellappantilla Sreekumar

    2014-12-01

    Full Text Available Compression of the ulnar nerve in Guyon's canal leads to Guyon's canal syndrome. Lipoma is a rare cause of such compressions with only 12 cases reported previously. We report a 55-year-old man who presented with swelling in the left hand with decreased sensation in the ring and little fingers. Magnetic resonance imaging revealed high signals in T1-weighted and T2-weighted images with suppression of the short T1 inversion recovery signal, suggestive of lipoma. On exploration a well-encapsulated, dumbbell-shaped, fatty tumor was seen in the hypothenar space and Guyon's canal. The tumor was enucleated in toto. At 6-month follow-up, the patient had fully regained sensation. A review of the literature is presented for similar cases where a lipoma was the cause of Guyon's canal syndrome.

  11. Partial absence of the posterior semicircular canal in Alagille syndrome: CT findings

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    Koch, Bernadette; Egelhoff, John; Benton, Corning [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Cincinnati (United States); Goold, Amy [Tripler Army Medical Center, Family Practice, Honolulu, HI (United States)

    2006-09-15

    We report a case of bilateral partial absence of the posterior semicircular canals (with normal lateral semicircular canals) imaged with CT in a patient with Alagille syndrome. Similar histologic findings have been reported in the pathology literature. This association has been previously reported only for Waardenburg syndrome in the imaging literature. We review the imaging findings and embryology of the semicircular canals, and suggest that this abnormality is specific to patients with Alagille or Waardenburg syndrome. (orig.)

  12. Superior Semicircular Canal Dehiscence Syndrome – Diagnosis and Surgical Management

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    Palma Diaz, Marite; Cisneros Lesser, Juan Carlos; Vega Alarcón, Alfredo

    2017-01-01

    Introduction Superior semicircular canal dehiscence syndrome was described by Minor et al in 1998. It is a troublesome syndrome that results in vertigo and oscillopsia induced by loud sounds or changes in the pressure of the external auditory canal or middle ear. Patients may present with autophony, hyperacusis, pulsatile tinnitus and hearing loss. When symptoms are mild, they are usually managed conservatively, but surgical intervention may be needed for patients with debilitating symptoms. Objective The aim of this manuscript is to review the different surgical techniques used to repair the superior semicircular canal dehiscence. Data Sources PubMed and Ovid-SP databases. Data Synthesis The different approaches are described and discussed, as well as their limitations. We also review the advantages and disadvantages of the plugging, capping and resurfacing techniques to repair the dehiscence. Conclusions Each of the surgical approaches has advantages and disadvantages. The middle fossa approach gives a better view of the dehiscence, but comes with a higher morbidity than the transmastoid approach. Endoscopic assistance may be advantageous during the middle cranial fossa approach for better visualization. The plugging and capping techniques are associated with higher success rates than resurfacing, with no added risk of hearing loss. PMID:28382131

  13. Arcuate eminence: Is it due to semicircular canal?

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    Manvikar Purushottam Rao

    2012-01-01

    Full Text Available Background: Arcuate eminence (AE is an arc-like elevation seen on the anterior surface of petrous part of temporal bone in the middle cranial fossa (MCF. It has been believed and conventionally taught that AE is a protrusion caused because of the superior semicircular canal (SSC present in the petrous bone. AE is an useful anatomical landmark in the MCF during surgical approaches to acoustic neuroma through suprapetrosal approach. However, the relevance of relation to AE and SSC has been questioned in recent times. Presence of AE of various shapes and dimensions supports this view. Aim: To study and to establish the relation between shape of AE and inferior surface of cerebral hemispheres. Classify various types and subtypes in case of variation in shape based on its appearance. AE could be a negative impression of either gyrus or a sulcus. Material and Methods: The study was conducted in two parts. In the first part, the shape of AE and the impression on cerebral surface were correlated while removing brain from cranial cavity in 8 cadavers (16 wet temporal bones. In second part of the study, 100 dry temporal bones were examined. Relevant photographs were taken. A total of 116 temporal bones were studied. AE was classified as linear, globular, generalized swelling, and flat based on the appearance. Results and Conclusion: 10 AE of 16 wet temporal bones were linear type and did correspond with a sulcus, whilein 1 cadaver no relation was seen. In dry bones, maximum linear variety was seen. There was no relation to shape of AE and cerebral surface in two cadavers. Diversity in shapes, (linear type 47% and correlation with sulci on cerebral surface contests the earlier understanding that AE is due to SSC. Thickness of bone over SSC was not measured in this study. Having seen so many shapes of AE in this study, authors are of the opinion that there is a need to revisit this bony landmark in MCF and rethink if it can be used as a guide in middle

  14. Síndrome de Deiscência de Canal Semicircular Superior Superior Canal Dehiscence Syndrome

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    Suzane da Cunha Ferreira

    2006-06-01

    Full Text Available A Síndrome de Deiscência de Canal Semicircular Superior (SDCSS, primeiramente descrita em 1998 por Minor et al., caracteriza-se por vertigem associada à presença de nistagmo, relacionados à exposição a estímulos sonoros intensos ou a modificações de pressão dentro da orelha média ou intracraniana. Disacusia, em sua maioria de padrão condutivo à audiometria tonal, também pode estar presente. Nesta revisão da literatura objetivou-se abordar a SDCSS, com seus principais sinais e sintomas, achados diagnósticos e tratamento, assim como enfatizar a importância de sua inclusão dentre as causas de vertigem, visto tratar-se de acometimento ainda pouco conhecido até mesmo entre especialistas. O diagnóstico correto, além de possibilitar seu tratamento, impede que abordagens diagnósticas e terapêuticas inapropriadas sejam realizadas.The Superior Canal Dehiscence Syndrome (SCDS was first reported by Minor at. Al. (1998, and has been characterized by vertigo and vertical-torsional eye movements related to loud sounds or stimuli that change middle ear or intracranial pressure. Hearing loss, for the most part with conductive patterns on audiometry, may be present in this syndrome. We performed a literature survey in order to to present symptoms, signs, diagnostic and therapeutic approaches to the SCDS, also aiming at stressing the great importance of including this syndrome among the tractable cause of vertigo. We should emphasize that this is a recent issue, still unknown by some specialists. The Correct SCDS diagnosis, besides enabling patient treatment, precludes misdiagnosis and inadequate therapeutic approaches.

  15. Lower lip numbness due to the mandibular canal narrowing after dental reimplantation: A case report

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    Nafiseh Shamloo

    2015-01-01

    Full Text Available Mandibular canal is the most important anatomical landmark in the body of mandible which always must be considered for implant surgery in posterior mandibular region. Damage to vessels and inferior alveolar nerve that passes through the mandibular canal can cause problems such as hemorrhage and neurosensory disturbances. Damage to the mandibular canal can occur during implant surgery. Depending on the severity of injuries, it would result in temporary or permanent neurosensory disturbances. We have reported a case that mandibular canal narrowing occurred following implant surgery and resulted in anesthetic and hypoesthetic areas in the lower lip. Patient had a history of implant surgery in the region of teeth numbered 30 and numbered 31. The inserted implant failed after 6 years, and reimplantation was done in this area, but due to lower lip numbness in the right side, the second implant was removed, and another implant was inserted in the region of the tooth numbered 32. After 2 years, right lower lip numbness was reported again by the patient. Cone beam computed tomography images showed canal narrowing in the region of the tooth numbered 31 where the second implant was inserted. It seems that the main cause for anesthesia and hypoesthesia in this patient is canal narrowing due to damage during implant replacement and removal.

  16. Upper cervical spinal cord compression due to bony stenosis of the spinal canal.

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    Benitah, S; Raftopoulos, C; Balériaux, D; Levivier, M; Dedeire, S

    1994-04-01

    Compression of the upper cervical spinal cord due to stenosis of the bony spinal canal is infrequent. In the first case reported here, stenosis was due to acquired extensive, unilateral osteophytes centered on the left apophyseal joints of C1-C2 in an elderly professional violinist. In the second case, stenosis was secondary to isolated congenital hypertrophy of the laminae of C1 and C2.

  17. Otic capsule dehiscence syndrome: Superior semicircular canal dehiscence syndrome with no radiographically visible dehiscence.

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    Wackym, P Ashley; Wood, Scott J; Siker, David A; Carter, Dale M

    2015-08-01

    We conducted a prospective longitudinal study of two cohorts of patients who had superior semicircular canal dehiscence syndrome (SSCDS); one group had radiographically confirmed superior canal dehiscence (SCD), and the other exhibited no identified otic capsule dehiscence on imaging (no-iOCD). We compiled data obtained from prospective structured symptomatology interviews; diagnostic studies; three-dimensional, high-resolution, temporal bone computed tomography; and a retrospective case review from our tertiary care referral center. Eleven adults and 1 child with SSCDS were identified, surgically managed, and followed. Six of these patients-1 man and 5 women, aged 29 to 54 years at first surgery (mean: 41.8)-had radiologically confirmed SCD. The other 6 patients-1 man, 4 women, and 1 girl, aged 1 to 51 years (mean: 32.2)-had no-iOCD. The 6 adults with SCD underwent surgery via a middle cranial fossa approach with plugging procedures. The 5 adults and 1 child with no-iOCD underwent round window reinforcement (RWR) surgery. One SCD patient developed no-iOCD 1.5 years after SCD surgery, and she subsequently underwent RWR surgery. Our main outcome measures were patient symptomatology (with video documentation) and the results of diagnostic studies. Other than the character of migraine headaches, there was no difference in preoperative symptomatology between the two groups. Postoperatively, resolution of SSCDS symptoms ultimately occurred in all patients. Both the SCD and the no-iOCD groups experienced a highly significant improvement in postural control following treatment (Wilcoxon signed rank test, p syndrome more accurately reflects the clinical syndrome of SSCDS since it includes both superior semicircular canal dehiscence and no-iOCD, as well as posterior and lateral semicircular canal dehiscence, all of which can manifest as SSCDS. We have also included links to videos in which 4 of the SSCDS patients with no-iOCD in this study discussed their symptoms and the

  18. A Guyon's canal ganglion presenting as occupational overuse syndrome: A case report

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    Hennessy Michael J

    2008-02-01

    Full Text Available Abstract Background Occupational overuse syndrome (OOS can present as Guyon's canal syndrome in computer keyboard users. We report a case of Guyon's canal syndrome caused by a ganglion in a computer user that was misdiagnosed as OOS. Case presentation A 54-year-old female secretary was referred with a six-month history of right little finger weakness and difficulty with adduction. Prior to her referral, she was diagnosed by her general practitioner and physiotherapist with a right ulnar nerve neuropraxia at the level of the Guyon's canal. This was thought to be secondary to computer keyboard use and direct pressure exerted on a wrist support. There was obvious atrophy of the hypothenar eminence and the first dorsal interosseous muscle. Both Froment's and Wartenberg's signs were positive. A nerve conduction study revealed that both the abductor digiti minimi and the first dorsal interosseus muscles showed prolonged motor latency. Ulnar conduction across the right elbow was normal. Ulnar sensory amplitude across the right wrist to the fifth digit was reduced while the dorsal cutaneous nerve response was normal. Magnetic resonance imaging of the right wrist showed a ganglion in Guyon's canal. Decompression of the Guyon's canal was performed and histological examination confirmed a ganglion. The patient's symptoms and signs resolved completely at four-month follow-up. Conclusion Clinical history, occupational history and examination alone could potentially lead to misdiagnosis of OOS when a computer user presents with these symptoms and we recommend that nerve conduction or imaging studies be performed.

  19. Horner syndrome due to vertebral artery stenosis.

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    Kim, Chul Han

    2013-11-01

    The author reports a rare case of Horner syndrome in a patient who resulted from stenosis of the vertebral artery after blunt trauma. A 31-year-old man was transferred to our department for evaluation of left medial orbital wall and nasal bone fractures. Five days ago, he was hospitalized due to multiple second to fourth rib fractures of the right chest following blunt trauma of the face, neck, and chest. Surgery was performed. Ten days later, he complained of drooping of the right eyelid. Physical examination revealed a discrete miosis and ptosis with normal levator function in the right eye. A workup for Horner syndrome was performed. Magnetic resonance angiography of the head and neck revealed a stenosis of the distal part of the right vertebral artery without the abnormality of carotid artery. He wore a cervical collar and underwent anticoagulation. However, Horner syndrome was not resolved over the next 12 months. Acute traumatic Horner syndrome may be associated with vertebral artery dissection in which the possibility of life-threatening injury can be masked.

  20. Abdominal Compartment Syndrome due to OHSS

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    Firoozeh Veisi

    2012-03-01

    Full Text Available Abdominal compartment syndrome is a dangerous clinical situation, usually following abdominal injuries&operations. It is seldom observed in patients with gynecologic and obstetric problems. Abdominalcompartment syndrome may be consequence ovarian hyperstimulation syndrome. A 28-year-old womanpresented as a sever ovarian hyperstimulation.The increased IAP indicated that OHSS may beconsidered a compartment syndrome. Abdominal compartment syndrome needs laparotomy orparacentesis for reduction of pressure.

  1. Cushing syndrome due to adrenal tumor

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    Adrenal tumor - Cushing syndrome ... Cushing syndrome is a disorder that occurs when your body has a higher than normal level of the ... or cancerous (malignant). Noncancerous tumors that can cause ... Adrenal adenomas Micronodular hyperplasia Cancerous tumors that ...

  2. [MRI of the semicircular canals in cranio-facial asymmetries and craniomandibular syndrome].

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    Baudrillard, J C; Rousié, D; Foucart, H; Defache, C; Hache, J C; Van Tichelen, P; Lerais, J M

    1995-09-01

    The cranio-mandibular syndrome (CMS) is often secondary to an cranio-facial asymmetry (CFA); it associate a painful masticatory dysfunction syndrome with functional and aching clinical signs in relation with a functional torticollis required for oculo-labyrinthal equilibration maintenance. Our anatomical and functional MRI protocol uses tridimensional study of semi-circular canals (SCC) up relation to the medial cerebral axis (MCA), and permit to measure precisely these CFA and propose, with a multispecialist approach, an adapted treatment of the SCM. Application of MRI to SCC asymmetry looks to its future use for spatial intracranial referencial of cerebral structures.

  3. Lethal neuroleptic malignant syndrome due to amisulpride.

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    Musshoff, Frank; Doberentz, Elke; Madea, Burkhard

    2013-06-01

    A 42-year old-man was found lying in his bed having seizures. Later he became unconscious and hypotonic developing mydriasis as well as rigidity. The body core temperature (rectal temperature) was above 42 °C. Blood pH was decreased during treatment, and his general condition deteriorated. The patient developed gasping respiration, ventricular fibrillation, and died. During autopsy and histological investigation cerebral and pulmonary edema were noted together with general congestion of the internal organs. Further observations included contraction bands of myocytes, a contracted spleen, fibrosis of the liver, and gall stones. Toxicological analyses of peripheral blood revealed the following results: amisulpride 4.65 mg/l, biperiden 0.12 mg/l, imipramine 0.33 mg/l, and desipramine 0.68 mg/l. An amisulpride-induced neuroleptic malignant syndrome was therefore diagnosed as the patho-physiological mechanism leading to death.

  4. A Case of Recurrent Urticaria Due to Formaldehyde Release from Root-Canal Disinfectant.

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    Jang, Ji Hoon; Park, Seung Hyun; Jang, Hang Jea; Lee, Sung Geun; Park, Jin Han; Jeong, Jae Won; Park, Chan Sun

    2017-01-01

    Although formaldehyde is well known to cause type 4 hypersensitivity, immunoglobulin E (IgE)-mediated hypersensitivity to formaldehyde is rare. Here, we report a case of recurrent generalized urticaria after endodontic treatment using a para-formaldehyde (PFA)-containing root canal sealant and present a review of previous studies describing cases of immediate hypersensitivity reactions to formaldehyde. A 50-year-old man visited our allergy clinic for recurrent generalized urticaria several hours after endodontic treatment. Prick tests to latex, lidocaine, and formaldehyde showed negative reactions. However, swelling and redness at the prick site continued for several days. The level of formaldehyde-specific IgE was high (class 4). Thus, the patient was deemed to have experienced an IgE-mediated hypersensitivity reaction caused by the PFA used in the root canal disinfectant. Accordingly, we suggest that physicians should pay attention to type I hypersensitivity reactions to root canal disinfectants, even if the symptoms occur several hours after exposure.

  5. Clinical predictors of lacunar syndrome not due to lacunar infarction

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    Comes Emili

    2010-05-01

    Full Text Available Background Lacunar syndrome not due to lacunar infarct is poorly characterised. This single centre, retrospective study was conducted to describe the clinical characteristics of patients with lacunar syndrome not due to lacunar infarct and to identify clinical predictors of this variant of lacunar stroke. Methods A total of 146 patients with lacunar syndrome not due to lacunar infarction were included in the "Sagrat Cor Hospital of Barcelona Stroke Registry" during a period of 19 years (1986-2004. Data from stroke patients are entered in the stroke registry following a standardized protocol with 161 items regarding demographics, risk factors, clinical features, laboratory and neuroimaging data, complications and outcome. The characteristics of these 146 patients with lacunar syndrome not due to lacunar infarct were compared with those of the 733 patients with lacunar infarction. Results Lacunar syndrome not due to lacunar infarct accounted for 16.6% (146/879 of all cases of lacunar stroke. Subtypes of lacunar syndromes included pure motor stroke in 63 patients, sensorimotor stroke in 51, pure sensory stroke in 14, atypical lacunar syndrome in 9, ataxic hemiparesis in 5 and dysarthria-clumsy hand in 4. Valvular heart disease, atrial fibrillation, sudden onset, limb weakness and sensory symptoms were significantly more frequent among patients with lacunar syndrome not due to lacunar infarct than in those with lacunar infarction, whereas diabetes was less frequent. In the multivariate analysis, atrial fibrillation (OR = 4.62, sensorimotor stroke (OR = 4.05, limb weakness (OR = 2.09, sudden onset (OR = 2.06 and age (OR = 0.96 were independent predictors of lacunar syndrome not due to lacunar infarct. Conclusions Although lacunar syndromes are highly suggestive of small deep cerebral infarctions, lacunar syndromes not due to lacunar infarcts are found in 16.6% of cases. The presence of sensorimotor stroke, limb weakness and sudden onset in a patient

  6. CT in low back and sciatic pain due to lumbar canal osseous changes

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    Rosa, M.; Capellini, C.; Canevari, M.A.; Prosetti, D.; Schiavoni, S.

    1986-05-01

    In a consecutive series of 600 patients scanned by CT for various spinal diseases, those with low back and sciatic pain without disc herniation were selected for study. The causes proved to be joint facet degeneration (32 cases), stenosis of the neural foramina (13 cases), stenosis of the spinal canal (13 cases), lateral recess stenosis (6 cases) and spondylolisthesis (6 cases). The predominance of joint fact pathology as the underlying cause of low back and sciatic pain in the absence of disc herniation is confirmed. CT scanning of the soft tissues as well as of the skeletal structures is crucial to the aetiological diagnosis of the condition under study and hence to the proper planning of treatment.

  7. Unilateral glossodynia due to Eagle’s syndrome. Case report

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    Vasilis Petsinis, Nadia Theologie-Lygidakis, Ioannis Iatrou

    2010-04-01

    Full Text Available Eagle's syndrome represents a variety of craniofacial or neck symptoms caused by the elongation of the styloid process or the calcification of the stylomandibular ligament. It presents mainly with pain or the sense of a pharyngeal foreign body. In cases of unilateral glossodynia Eagle's syndrome must be included in differential diagnosis. The surgical removal of the styloid process can be performed through an intraoral or extraoral approach with very good results. The aim of this paper is to present a case of a 57-year-old female patient suffering for twelve months of persistent unilateral glossodynia due to Eagle's syndrome. 3D Computer tomography scan revealed elongation of both styloid processes, and the diagnosis of Eagle's syndrome was set. Trough an intraoral approach, the 4 cm long right styloid process was removed. The patient was completely relieved from the symptoms right after surgery, without any postoperative morbidity.

  8. AN INTERESTING CASE OF STROKE DUE TO EAGLE SYNDROME

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    Anil Kumar

    2014-06-01

    Full Text Available Eagle Syndrome (ES is a rare syndrome characterized by a specific orofacial pain due to a calcified stylohyoid ligament or an elongated styloid process. The ‘Classic’ Eagle Syndrome typically occurs after pharyngeal trauma or tonsillectomy. The second form, ‘Stylocarotid Syndrome’ is characterized by compression of internal or external carotid artery. Here, we present a case of acute dysphagia in a 48years old male due to Eagle Syndrome. The patient presented with acute onset dysphagia of 1 week duration to both solid and liquid foods, associated with odynophagia and pain in the right oropharynx. Patient had a past history of left hemiparesis with facial palsy due to right sided cerebrovascular accident (CVA 3years ago, which had subsequently improved. Patient was investigated with Barium swallow, X-ray skull lateral view, MR Angiogram of neck and brain, Carotid Doppler study and finally Orthopantomogram (OPG. OPG showed an elongated styloid process measuring 3.8cms on the right side. Incidentally, MR Angiogram of neck and brain showed absent intracranial part of internal carotid artery on the right side (the main stem of the artery, starting from 2mms from the common carotid bifurcation until the junction with anterior cerebral artery was missing.Rest all investigations were normal. Hence, the case was diagnosed as right sided Eagle syndrome, possibly of the stylocarotid variety

  9. Heterochromia iridis and Horner's syndrome due to paravertebral neurilemmoma.

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    Sayed, A K; Miller, B A; Lack, E E; Sallan, S E; Levey, R H

    1983-01-01

    A case of heterochromia iridis and Horner's syndrome is reported in a 7-year old girl with paravertebral neurilemmoma. These clinical findings can be useful in the early diagnosis of mediastinal tumors in the paravertebral axis. While typically associated with neuroblastoma, these findings can be due to tumors which are inately benign--in this case neurilemmoma. The mechanism for heterochromia is briefly discussed.

  10. A Case with Repeated Recurrent Acute Coronary Syndrome due to Pseudoephedrine Use: Kounis Syndrome

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    Metin Çeliker

    2014-01-01

    Full Text Available Allergic reaction-associated acute coronary syndrome picture is defined as Kounis syndrome. Although drug use is the most common cause of allergic reaction, foods and environmental factors may also play a role in the etiology. Herein, a case with acute coronary syndrome that developed two times at 8-month interval due to pseudoephedrine use for upper respiratory tract infection is presented.

  11. Anton's syndrome due to cerebrovascular disease: a case report

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    Maddula Mohana

    2009-09-01

    Full Text Available Abstract Introduction Anton's syndrome describes the condition in which patients deny their blindness despite objective evidence of visual loss, and moreover confabulate to support their stance. It is a rare extension of cortical blindness in which, in addition to the injury to the occipital cortex, other cortical centres are also affected, with patients typically behaving as if they were sighted. Case presentation We present a case report of an 83-year-old white woman with cortical blindness as a result of bilateral occipital lobe infarcts. Despite her obvious blindness, illustrated by her walking into objects, the patient expressed denial of visual loss and demonstrated confabulation in her accounts of her surroundings, consistent with a diagnosis of Anton's syndrome. Conclusions A suspicion of cortical blindness and Anton's syndrome should be considered in patients with atypical visual loss and evidence of occipital lobe injury. Cerebrovascular disease is the most common cause of Anton's syndrome, as in our patient. However, any condition that may result in cortical blindness can potentially lead to Anton's syndrome. Recovery of visual function will depend on the underlying aetiology, with cases due to occipital lobe infarction after cerebrovascular events being less likely to result in complete recovery. Management in these circumstances should accordingly focus on secondary prevention and rehabilitation.

  12. A CLINICORADIOLOGICAL STUDY OF MIDDLE LOBE SYNDROME DUE TO TUBERCULOSIS

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    Saurabh Karmakar

    2016-09-01

    Full Text Available BACKGROUND Although pulmonary tuberculosis is a common disease in India, tuberculosis of right middle lobe is infrequent. Tuberculosis of the right middle lobe leading to chronic collapse is a cause of Right Middle Lobe syndrome. METHODS The patients attended Pulmonary Medicine Outdoor at Era’s Lucknow Medical College, Lucknow from April 2015 to March 2016. The purpose of this study is to describe the clinicoradiological features of patients of middle lobe syndrome due to tuberculosis. All patients presented with cough with or without expectoration, fever, chest pain, haemoptysis and constitutional symptoms like loss of appetite and weight. Chest X-ray PA view revealed ill-defined opacity abutting the right cardiac border. HRCT thorax was done in each case. The diagnosis of tuberculous aetiology was based on (1 History of chronic cough and fever, not responding to antibiotic therapy and constitutional symptoms, (2 A positive tuberculin test using 2 TU of PPD RT 23 and (3 Detection of acid fast bacilli by direct smear or Mycobacterium tuberculosis by polymerase chain reaction in bronchoalveolar lavage. RESULTS Out of 10 patients, 4 (40% were males and 6 (60% were females. The mean ages of the males were 55.8 years and females were 60.8 years and overall mean age was 59 years. Most of the patients were females and belonged to the middle age and old age group. ATT was started in all the patients. CONCLUSIONS Right middle lobe syndrome predominantly affects the older population and the female gender. Although tuberculosis is a common disease in India, Middle Lobe Syndrome is a very rare presentation of the disease. Due to non-specific symptoms and usually normal chest X-ray PA view in Right Middle Lobe Syndrome, we should keep a high index of suspicion to diagnose the condition.

  13. Sudden death due to Eagle syndrome: a case report.

    Science.gov (United States)

    Kumar, Pradeep; Rayamane, Anand P; Subbaramaiah, Mouna

    2013-09-01

    Eagle syndrome represents symptoms manifested by compression of regional structures by elongation of the styloid process or ossification of the stylohyoid membrane. Various theories have been put forward toward the development of Eagle syndrome. Depending on the underlying pathogenetic mechanism and the anatomical structures compressed or irritated by the elongated styloid process, symptoms vary greatly, ranging from cervicofacial pain to cerebral ischemia. Because the symptoms are variable and nonspecific, patients land up in different clinics for treatment. In the present case, the victim had previous episode of unconsciousness along with frequent headache for which she visited various clinics on numerous occasions. The elongated styloid process was appreciated during the postmortem examination, and the diagnosis of sudden death due to mechanical irritation of the carotid sinus by elongated styloid process was made as the sign of acute cardiovascular failure was present and upon exclusion of other causes of death.

  14. Flushing syndrome due to mahimahi (scombroid fish) poisoning.

    Science.gov (United States)

    Kim, R

    1979-08-01

    Scombroid fish poisoning, one of the most common adverse reactions to fish, is also probably one of the most common causes of a flushing syndrome. The reaction usually involves fishes of the Scombridae family but, in Hawaii, the reaction is most often due to mahimahi (Coryphaena hippurus). Onset of the reaction is usually abrupt and commonly associated with a prominent flush resembling a sunburn. Headache, tachye to a toxin with histamine-like properties, which is formed because improper refrigeration enables endogenous bacteria to decarboxylate histidine normally present in dark-meat fishes. Symptoms are usually promptly relieved by parenteral antihistamine therapy.

  15. T2-signal of ulnar nerve branches at the wrist in guyon's canal syndrome.

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    Jennifer Kollmer

    Full Text Available OBJECTIVE: To evaluate T2-signal of high-resolution MRI in distal ulnar nerve branches at the wrist as diagnostic sign of guyon's-canal-syndrome (GCS. MATERIALS AND METHODS: 11 GCS patients confirmed by clinical/electrophysiological findings, and 20 wrists from 11 asymptomatic volunteers were prospectively included to undergo the following protocol: axial T2-weighted-fat-suppressed and T1-weighted-turbo-spin-echo-sequences (3T-MR-scanner, Magnetom/Verio/Siemens. Patients were examined in prone position with the arm extended and wrist placed in an 8-channel surface-array-coil. Nerve T2-signal was evaluated as contrast-to-noise-ratios (CNR from proximal-to-distal in ulnar nerve trunk, its superficial/sensory and deep/motor branch. Distal motor-nerve-conduction (distal-motor-latency (dml to first dorsal-interosseus (IOD I and abductor digiti minimi muscles was correlated with T2-signal. Approval by the institutional review-board and written informed consent was given by all participants. RESULTS: In GCS, mean nerve T2-signal was strongly increased within the deep/motor branch (11.7±4.8 vs.controls:-5.3±2.4;p = 0.001 but clearly less and not significantly increased in ulnar nerve trunk (6.8±6.4vs.-7.4±2.5;p = 0.07 and superficial/sensory branch (-2.1±4.9vs.-9.7±2.9;p = 0.08. Median nerve T2-signal did not differ between patients and controls (-9.8±2.5vs.-6.7±4.2;p = 0.45. T2-signal of deep/motor branch correlated strongly with motor-conduction-velocity to IOD I in non-linear fashion (R(2 = -0.8;p<0.001. ROC-analysis revealed increased nerve T2-signal of the deep/motor branch to be a sign of excellent diagnostic performance (area-under-the-curve 0.94, 95% CI: 0.85-1.00; specificity 90%, sensitivity 89.5%. CONCLUSIONS: Nerve T2-signal increase of distal ulnar nerve branches and in particular of the deep/motor branch is highly accurate for the diagnostic determination of GCS. Furthermore, for the first time it was found in nerve entrapment

  16. Poorly Controlled Congenital Hypothyroidism due to an Underlying Allgrove Syndrome

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    van Tellingen, V.; Finken, M.J.J.; Israëls, J.; Hendriks, Y.M.C.; Kamp, G.A.; van Santen, H.M.

    2016-01-01

    Background Congenital hypothyroidism of thyroidal origin (CHT) is a common disorder in pediatric endocrinology practices, which can be difficult to manage. Elevated thyrotropin (TSH) concentrations are in the great majority of cases explained by poor compliance to levothyroxine therapy. Methods Case description. Results We present a boy with CHT, with 2 heterozygous mutations in the TSH receptor gene, who showed persistently elevated TSH concentrations and psychomotor retardation, initially misinterpreted as malcompliance. At the age of 4 years, he was diagnosed with adrenal insufficiency, wherefore a broad diagnostic search was initiated. After the start of glucocorticoid replacement therapy, his TSH normalized and the levothyroxine could be lowered. At the age of 6 years, his TSH increased again, this time caused by malabsorption of levothyroxine due to esophageal achalasia. In retrospect, alacrima was also present and the diagnosis of Allgrove syndrome was genetically confirmed. The CHT was considered a separate disease entity. Conclusions In case of persistently elevated TSH levels in children with CHT, causes other than noncompliance must be considered. Second, in establishing the cause of adrenal insufficiency, specific symptoms, such as alacrima, are easily overlooked. Third, Allgrove syndrome is a rare disorder, in which diagnostic delay can lead to potentially life-threatening complications. PMID:27255745

  17. Acute adrenal insufficiency due to primary antiphospholipid antibody syndrome

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    Kishore Kumar Behera

    2013-01-01

    Full Text Available Introduction: We report a case of acute adrenal insufficiency (AAI in a patient with antiphospholipid syndrome (APS. Case Report: A 44-year-old female patient presented to us with acute abdominal pain associated with recurrent vomiting and giddiness. On examination, her blood pressure was 80/50 mm Hg. Systemic examination was normal. Further evaluation revealed hypocortisolemia with elevated plasma adrenocorticotropin hormone indicative of primary adrenal insufficiency. Her abdominal computed tomography scan showed features of evolving bilateral adrenal infarction. Etiological work-up revealed prolonged activated thromboplastin time, which didn′t correct with normal plasma, her anti-cardiolipin antibody and lupus anticoagulant were also positive. She was diagnosed to have APS with adrenal insufficiency and she was started on intravenous steroids and heparin infusion. Conclusion: AAI due to the APS can present with acute abdominal pain followed by hypotension. A high index of suspicion is needed to make the correct diagnosis and to initiate appropriate treatment.

  18. Neuroleptic malignant syndrome due to risperidone misdiagnosed as status epilepticus

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    Ali Ertug Arslankoylu

    2011-06-01

    Full Text Available Neuroleptic malignant syndrome (NMS is a rare but potentially fatal disease characterized by fever, muscle rigidity, delirium and autonomic instability. Here we report a child, with NMS due to the risperidone misdiagnosed as status epilepticus. Nine year old boy, who had been under high dose risperidone treatment for 8 weeks, admitted to the emergency room because of the contractions (evaluated as status epilepticus persisting for 7 hours. Since there was neuroleptic treatment in the past medical history and, unconsciousness, muscular rigidity, diaphoresis, hypertermi and, hypotension in physical examination, leucocytosis and elevated creatininphosphokinase levels in laboratory tests, the patient was evaluated as NMS and discharged without any complications. We reported this case to point out that; NMS may be misdiagnosed as status epilepticus in children when EEG monitoring is unavailable. When a child admitted to the emergency room because of suspicious convulsion neuroleptic drug use must surely be asked.

  19. Deaths Due to Choking in Prader-Willli Syndrome

    OpenAIRE

    Stevenson, David A.; Heinemann, Janalee; Angulo, Moris; Merlin G. Butler; Loker, Jim; Rupe, Norma; Kendell, Patrick; Clericuzio, Carol L; Scheimann, Ann O

    2007-01-01

    Prader-Willi syndrome (PWS) is the most common known syndromic cause of life threatening obesity, yet few studies have examined the causes of death in PWS. The objective of this study was to examine the contribution of choking leading to mortality in PWS. In 1999, a brief survey was made available from the Prader-Willi Syndrome Association (USA) bereavement program, which documented demographic data and causes of death. Families were subsequently offered the opportunity to fill out a detailed...

  20. Turner syndrome with spinal hemorrhage due to vascular malformation.

    Science.gov (United States)

    Yu, Min Kyung; Jung, Mo Kyung; Kim, Ki Eun; Kwon, Ah Reum; Chae, Hyun Wook; Kim, Duk Hee; Kim, Ho-Seong

    2015-12-01

    Turner syndrome (TS) is a relatively common chromosomal disorder and is associated with a range of comorbidities involving the cardiovascular system. Vascular abnormalities, in particular, are a common finding in cases of TS. However, dissection involving the vertebral arteries is rare. Here, we report the case of a 9-year-old girl with TS who had been treated with growth hormone replacement therapy for the past 3 years. She presented with weakness of both lower legs, and was ultimately diagnosed with spinal hemorrhage due to vascular malformation. We treated her with intravenous high dose dexamethasone (0.6 mg/kg) and she could walk without assistance after 6 days of treatment. In conclusion, when a patient with TS shows sudden weakness of the lower limbs, we should consider the possibility of spinal vessel rupture and try to take spine magnetic resonance imaging as soon as possible. We suggest a direction how to make a proper diagnosis and management of sudden vertebral artery hemorrhage in patients with TS.

  1. Cubital Tunnel Syndrome Due to Synovial Cyst: A Case Report

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    Zahir Kizilay

    2016-02-01

    Full Text Available We report a rare case of ulnar nerve entrapment caused by a synovial cyst derived from the left elbow joint. A 57-year-old male patient with a seven-month history of pain in his left elbow and a progressive and increasing numbness and weakness complaints in his left hand came to our clinic. Weakness and sensory loss of the 4th and 5th fingers were determined in neurological examination. The results of Tinel’s sign and Phalen’s Test were positive, especially when his left elbow was flexed. In electromyelography, axonal damage and entrapment neuropathy were determined in the left cubital tunnel area. Total excision of the synovial cyst and ulnar nerve anterior subcutaneous transposition were performed in surgical treatment. The patient’s pain decreased immediately after the surgery. In this report, we have discussed the pathopysiology of cubital tunnel syndrome due to synovial cyst and which surgical technique may be suitable as our case report.

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

    OpenAIRE

    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.

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

    Science.gov (United States)

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

    2015-08-01

    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.

  4. [Syncope due to parapharyngeal space lesions syncope-syndrome].

    Science.gov (United States)

    Córdoba López, A; Torrico Román, P; Inmaculada Bueno Alvarez-Arenas, M; Monterrubio Villar, J; Corcho Sánchez, G

    2001-05-01

    The clinic association between tumors in the neck and syncopal attacks has been well documented but uncommon. The pathogenesis of this type of syncope has been attributed to an specific sinus node disfunction and several diseases that affect pacemaker activity, cardiac output and blood supply to the brain are able to produce it. The most common reflex cardiovascular sindromes linked to the IX nerve are carotid sinus syndrome and glossopharyngeal neuralgia-asystole syndrome. Some patients with a pathological involvement of the parapharyngeal space also suffers from syncope but the clinical picture of these patients differs so greatly from the other two syndromes, which suggests specific aetiological, clinical and therapeutical features so the term "parapharyngeal space lesiones syncope-syndrome" has been proposed for this entity. We report a case of a patient with a neck tumor in the parapharyngeal space with syncope as the major symptom.

  5. Role of Infection Due to Campylobacter jejuni in the Initiation of Guillain-Barre Syndrome

    Science.gov (United States)

    1993-01-01

    Initiation of Guillain - Barre Syndrome 90PP0820 Ban Mishu and Martin J. Blaser Veterans Administration Medical Center 93-26165 Research Service 1310 24th...Unlimited Best Available Copy 104 Role of Infection Due to Campylobacterjejuni in the Initiation of Guillain - Barre Syndrome Ban Mishu and Martin J. Blaser...may cause Guillain -Barrk syndrome (GBS) by triggering demyelination of peripheral nerves. GBS is preceded by an acute infectious illness (due to a

  6. Otalgia and eschar in the external auditory canal in scrub typhus complicated by acute respiratory distress syndrome and multiple organ failure

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    Hu Sung-Yuan

    2011-03-01

    Full Text Available Abstract Background Scrub typhus, a mite-transmitted zoonosis caused by Orientia tsutsugamushi, is an endemic disease in Taiwan and may be potentially fatal if diagnosis is delayed. Case presentations We encountered a 23-year-old previously healthy Taiwanese male soldier presenting with the right ear pain after training in the jungle and an eleven-day history of intermittent high fever up to 39°C. Amoxicillin/clavulanate was prescribed for otitis media at a local clinic. Skin rash over whole body and abdominal cramping pain with watery diarrhea appeared on the sixth day of fever. He was referred due to progressive dyspnea and cough for 4 days prior to admission in our institution. On physical examination, there were cardiopulmonary distress, icteric sclera, an eschar in the right external auditory canal and bilateral basal rales. Laboratory evaluation revealed thrombocytopenia, elevation of liver function and acute renal failure. Chest x-ray revealed bilateral diffuse infiltration. Doxycycline was prescribed for scrub typhus with acute respiratory distress syndrome and multiple organ failure. Fever subsided dramatically the next day and he was discharged on day 7 with oral tetracycline for 7 days. Conclusion Scrub typhus should be considered in acutely febrile patients with multiple organ involvement, particularly if there is an eschar or a history of environmental exposure in endemic areas. Rapid and accurate diagnosis, timely administration of antibiotics and intensive supportive care are necessary to decrease mortality of serious complications of scrub typhus.

  7. [Bilateral diaphragmatic paralysis due to Parsonage-Turner syndrome].

    Science.gov (United States)

    Tissier-Ducamp, D; Martinez, S; Alagha, K; Charpin, D; Chanez, P; Palot, A

    2015-09-01

    We report the case of a 49-years-old patient who presented to the accident and emergency department with sudden onset dyspnea associated with acute shoulder pain. He was breathless at rest with supine hypoxemia. He had an amyotrophic left shoulder with localized paresis of the shoulder. Both hemi-diaphragms were elevated on chest X-rays. Pulmonary function tests showed a restrictive pattern and both phrenic nerve conduction velocities were decreased. At night, alveolar hypoventilation was evidenced by elevated mean capnography (PtcCO2: 57mmHg). Neuralgic amyotrophy, Parsonage-Turner syndrome was the final diagnosis. This syndrome is a brachial plexus neuritis with a predilection for the suprascapular and axillary nerves. Phrenic nerve involvement is rare but where present can be the most prominent clinical feature as in our case report.

  8. West syndrome due to vitamin B12 deficiency.

    Science.gov (United States)

    Serin, Hepsen Mine; Kara, Aslıhan Oruçoğlu; Oğuz, Baran

    2015-12-01

    Vitamin B12 is one of the essential vitamins affecting various systems of the body. Vitamin B12 deficiency in infants often produces haematological and neurological deficits including macrocyticanaemia, neurodevelopmental delay or regression, irritability, weakness, hypotonia, ataxia, apathy, tremor andseizures. In this article, we report the case of a six-month-old male patient diagnosed with West syndrome associated with vitamin B12 deficiency. Although the patient had no evidence of macrocytic anemia in complete blood count, we measured the level of vitamin B12 because the patient had hypotonicity and found it to be low. No other problem was found in the other investigations directed to the etiology of West syndrome. He was being exclusively breast-fed and vitamin B12 deficiency was related with nutritional inadequacy of his mother. Vitamin B12 deficiency should be considered in the differential diagnosis of patients presenting with different neurological findings. In addition, vitamin B12 deficiency should be considered as a rare cause in West syndrome which has a heterogeneous etiology.

  9. [Coffin-Lowry syndrome. Its association with congenitally narrow cervical canal and myelomalacia].

    Science.gov (United States)

    García-Suárez, Adrián; Dansac-Rivera, Arie Benoit

    2014-01-01

    INTRODUCCIÓN: Las características clínicas típicas del síndrome de Coffin-Lowry son facies con hipertelorismo, nariz pequeña, boca amplia, labios amplios y evertidos; estatura corta, retardo mental, deformidad del pectus, disfunción de la válvula mitral, afectación de hipocampo y cerebelo, pérdida de la audición y trastornos de la columna, como cifosis o escoliosis. Debido a su escasa incidencia es difícil realizar el diagnóstico temprano. El objetivo de este informe fue documentar las peculiaridades anatómicas identificadas durante el tratamiento quirúrgico de un paciente con este síndrome. CASO CLÍNICO: varón con síndrome de Coffin-Lowry quien evolucionó con canal cervical estrecho más mielomalacia a corta edad, por lo que fue necesaria descompresión de C3 a C6 e instrumentación de C2 a C7. Durante la cirugía se encontró, además de la calcificación del ligamento amarillo, adherencias a la duramadre desde C4 a C5, color violáceo obscuro en esta área y adelgazamiento en forma de reloj de arena; los extremos en C3 y C6 eran normales. El objetivo de la cirugía fue detener la miopatía. En el posquirúrgico, el paciente presentó complicaciones pulmonares; al sexto día falleció por complicaciones ventilatorias y mal manejo de secreciones.

  10. Deaths Due to Choking in Prader-Willli Syndrome

    Science.gov (United States)

    Stevenson, David A.; Heinemann, Janalee; Angulo, Moris; Butler, Merlin G.; Loker, Jim; Rupe, Norma; Kendell, Patrick; Clericuzio, Carol L.; Scheimann, Ann O.

    2011-01-01

    Prader-Willi syndrome (PWS) is the most common known syndromic cause of life threatening obesity, yet few studies have examined the causes of death in PWS. The objective of this study was to examine the contribution of choking leading to mortality in PWS. In 1999, a brief survey was made available from the Prader-Willi Syndrome Association (USA) bereavement program, which documented demographic data and causes of death. Families were subsequently offered the opportunity to fill out a detailed questionnaire and additional forms to release medical records. Demographic information was available on 178 deceased individuals with PWS, and cause of death available on 152 individuals. Fifty-four families completed questionnaires. Of the deceased individuals with completed questionnaires, 34% reported a history of choking. Choking was listed by familial report as the cause of death in 12 (7.9%) of 152 subjects with an average age of 24 years (range 3–52y; median 22.5y) at death from choking. Only two of these individuals were less than eight years of age. The data suggest that risks associated with choking are different in the PWS population compared with normal. Potential causes of increased choking in PWS include poor oral/motor coordination, poor gag reflex, hypotonia, hyperphagia, decreased mastication and voracious feeding habits. We recommend implementation of preventive measures and education for families and group home care providers for all individuals with PWS including the Heimlich maneuver, supervised meals, better food preparation and diet modification to avoid high risk choking items. PMID:17036318

  11. Hypercalcemic encephalopathy due to milk alkali syndrome and injection teriparatide

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    Sandeep Kharb

    2012-01-01

    Full Text Available An 82-year-old male, a known case of severe osteoporosis with vertebral fracture and prostatic carcinoma, was treated with gonadotropin releasing hormone analogue, calcium carbonate, cholecalciferol sachet and injection teriparatide. His diet consisted of milk and curd. He developed altered behavior and generalized weakness, and on investigation, hypercalcemia, hypokalemia, and metabolic alkalosis with low parathyroid hormone levels were detected. Injection teriparatide was stopped and he was managed with forced saline diuresis and injection zoledronic acid. He was diagnosed as a case of milk alkali syndrome in whom teriparatide and prolonged immobilization played a permissive role in the development of hypercalcemic encephalopathy.

  12. Further patient with Angelman syndrome due to paternal disomy of chromosome 15 and a milder phenotype

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    Gillessen-Kaesbach, G.; Passarge, E.; Horsthemke, B. [Institut fuer Humangenetik, Essen (Germany)

    1995-04-10

    This {open_quotes}Letter to the Editor{close_quotes} decribes a patient with Angelman syndrome due to paternal uniparental disomy of chromosome 15 and a milder phenotype compared to Angelman syndrome patients with a 15q deletion. 10 refs., 1 fig.

  13. A case of Stevens-Johnson syndrome due to rifampicin

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    Vandana A. Badar

    2014-02-01

    Full Text Available A 25 year old female known case of category II pulmonary Tuberculosis was on anti-coch’s treatment in the FDC of rifampicin, isoniazid, pyrazinamide, ethambutol and Streptomycin. Fifteen days after the commencement of Cat II anti TB treatment she developed diffuse erythematous rash on face, trunk and both extremities which turned into blisters. There were ulcers on oral and genital cavity. A diagnosis of Stevens Johnson’s syndrome was made. The patient had a history of cat I pulmonary TB and treated for 8 months and at the end of 8th month she was sputum smear negative. Four months later she had a relapse of sputum smear positive for pulmonary TB. She responded to the stoppage of drugs and oral/inj. Corticosteroids, antihistaminics and antibiotics. [Int J Basic Clin Pharmacol 2014; 3(1.000: 239-241

  14. Permanent bilateral cortical blindness due to reversible posterior leukoencephalopathy syndrome.

    Science.gov (United States)

    Iwama, Mayumi; Takahashi, Hiroshi; Takagi, Ryo; Hiraoka, Miki

    2011-01-01

    Reversible posterior leukoencephalopathy syndrome (RPLS) is induced by acute cerebral edema. Its symptoms include seizures, headache, altered mental status, and visual disturbances. The clinical and radiological findings are usually transient. This report describes a case of RPLS resulting in bilateral total blindness. A 40-year-old man presented with lethargy and bilateral visual loss. He had a 20-year history of hypertension, but had never been treated. On presentation, the left eye was able to perceive light, but the right eye was not. Radiological examination showed diffuse edema in the brain, and ocular fundus examination revealed severe bilateral hypertensive retinopathy. Antihypertensive therapy improved the patient's general condition, including blood pressure. Radiological findings 5 months later showed resolution of most of the abnormal signal areas. However, total blindness had developed in both eyes by day 15, and two courses of pulsed corticosteroid therapy failed to restore the visual loss.

  15. Quadriparesis due to Gitelman′s syndrome diagnosed with thiazide diuretic test response

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    Sumanto Mukhopadhyay

    2016-01-01

    Full Text Available Gitelman′s syndrome is characterized by hypocalciuria, severe hypomagnesemia, and prominent muscular involvements such as fatigue, weakness, cramps, and tetany. It is due to mutations in the thiazide sensitive NaCl co-transporter in the distal convoluted tubule. The administration of thiazide diuretics may induce a subnormal increase of urinary Cl− excretion in patients with Gitelman′s syndrome, consistent with the hypothesis that less than normal Cl− is reabsorbed by the thiazide-inhibitable transporter in Gitelman′s syndrome. Thus, we report a case of Gitelman′s syndrome presenting with quadriparesis diagnosed by using thiazide clearance test.

  16. Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review.

    Science.gov (United States)

    Andrade, Luis Jesuino de Oliveira; Andrade, Rafael; França, Caroline Santos; Bittencourt, Alcina Vinhaes

    2009-01-01

    Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder with clinical and genetic heterogeneity. This syndrome was first described by Laurence and Moon in 1866 and additional cases were described by Bardet and Biedl between 1920 and 1922. The main features are obesity, polydactyly, pigmentary retinopathy, learning disabilities, various degrees of intellectual impairment, hypogonadism, and renal abnormalities. Bardet-Biedl syndrome is both phenotypically and genetically heterogeneous. Clinical diagnosis is based on the presence of 4 of the 5 cardinal features. The authors present a typical case of pigmentary retinopathy due to Bardet-Biedl syndrome and made a brief commentary about the disease's cardinal manifestations.

  17. Treatment with acarbose in severe hypoglycaemia due to late dumping syndrome.

    Science.gov (United States)

    Wang, Congcong; Pang, Shuguang; Jiang, Qiang; Duan, Guanglan; Sun, Yongmei; Li, Mei

    2013-12-01

    Dumping syndrome is a serious complication that may occur after gastric surgery in approximately 10% of patients in the 1990s. With the increasing number of patients undergoing bariatric surgery, the incidence of dumping syndrome is likely to increase in recent years. It is necessary for clinicians to recognize the syndrome and master its management. We present a case of recurrent loss of consciousness, which was finally accurately diagnosed as late dumping syndrome twelve years after subtotal gastrectomy and successfully treated with acarbose. A 66-year old lean male was found unconscious repeatedly within one year, oral glucose tolerance tests performed before and after acarbose treatment verified the diagnosis of late dumping syndrome. Hypoglycaemia can damage the body in acute and chronic form. Acarbose can be used as a successful treatment modality for reactive hypoglycaemia due to late dumping syndrome by influencing the release of hormone.

  18. [Urolithiasis due to renal tubular acidosis associated with Sjögren's syndrome].

    Science.gov (United States)

    Umekawa, T; Esa, A; Uemura, T; Kohri, K; Kurita, T; Ishikawa, Y; Iguchi, M; Kataoka, K

    1990-03-01

    We encountered 4 patients with urolithiasis due to renal tubular acidosis (RTA) associated with Sjögren's syndrome. Laboratory results about RTA in 4 patients with Sjögrenhs syndrome were not significantly different from those in patients who suffered from urolithiasis due to RTA without Sjögren's syndrome. The incidence of urolitiasis in these cases was suspected to be higher than that in RTA patients without Sjögren's syndrome, because all 4 patients in this study had urolithiasis. When we examine patients with bilateral and multiple urolithiasis, particularly in middle-aged women, we should bear in mind that RTA and Sjögren's syndrome may exist in the background.

  19. Postpartum spontaneous colonic perforation due to antiphospholipid syndrome

    Institute of Scientific and Technical Information of China (English)

    Kamran Ahmed; Amir Darakhshan; Eleanor Au; Munther A Khamashta; Iraklis E Katsoulis

    2009-01-01

    The antiphospholipid syndrome (APS) is a multi-systemic disease being characterized by the presence of antiphospholipid antibodies that involves both arterial and venous systems resulting in arterial or venous thrombosis, fetal loss, thrombocytopenia, leg ulcers, livedo reticularis, chorea,and migraine. We document a previously unreported case of a 37-year-old female in whom APS was first manifested by infarction and cecal perforation following cesarean section. At laparotomy the underlying cause of colonic perforation was not clear and after resection of the affected bowel an ileo-colostomy was performed. The diagnosis of APS was established during post-operative hospital stay and the patient was commenced on warfarin.Eventually, she made a full recovery and had her stoma reversed after 4 mo. Pregnancy poses an increased risk of complications in women with APS and requires a more aggressive approach to the obstetric care. This should include full anticoagulation in the puerperium and frequent doppler ultrasound monitoring of uterine and umbilical arteries to detect complications such as preeclampsia and placental insufficiency.

  20. Pulmonary hypertension due to acute respiratory distress syndrome

    Directory of Open Access Journals (Sweden)

    S.A. Ñamendys-Silva

    2014-10-01

    Full Text Available Our aims were to describe the prevalence of pulmonary hypertension in patients with acute respiratory distress syndrome (ARDS, to characterize their hemodynamic cardiopulmonary profiles, and to correlate these parameters with outcome. All consecutive patients over 16 years of age who were in the intensive care unit with a diagnosis of ARDS and an in situ pulmonary artery catheter for hemodynamic monitoring were studied. Pulmonary hypertension was diagnosed when the mean pulmonary artery pressure was >25 mmHg at rest with a pulmonary artery occlusion pressure or left atrial pressure <15 mmHg. During the study period, 30 of 402 critically ill patients (7.46% who were admitted to the ICU fulfilled the criteria for ARDS. Of the 30 patients with ARDS, 14 met the criteria for pulmonary hypertension, a prevalence of 46.6% (95% CI; 28-66%. The most common cause of ARDS was pneumonia (56.3%. The overall mortality was 36.6% and was similar in patients with and without pulmonary hypertension. Differences in patients' hemodynamic profiles were influenced by the presence of pulmonary hypertension. The levels of positive end-expiratory pressure and peak pressure were higher in patients with pulmonary hypertension, and the PaCO2 was higher in those who died. The level of airway pressure seemed to influence the onset of pulmonary hypertension. Survival was determined by the severity of organ failure at admission to the intensive care unit.

  1. Staphylococcal scalded skin syndrome due to burn wound infection.

    Science.gov (United States)

    Farroha, A; Frew, Q; Jabir, S; Dziewulski, P

    2012-09-30

    Introduction. Le syndrome de la peau ébouillantée staphylococcique (sigle anglais conventionnel, SSSS) est une exfoliation aiguë de la peau causée par des toxines A et B. Bien que le Staphylococcus aureus soit une cause fréquente d’infection des brûlures, la SSSS suite à une infection brûlure est rare. Méthode. Les Auteurs ont effectué une revue rétrospective de tous les cas de patients atteints de SSSS hospitalises admis dans un service régional des brûlures entre janvier 2008 et janvier 2012. Résultats. Deux cas de SSSS ont été signalés au cours de cette période qui se sont produits suite à une brûlure. Le premier cas était un garçon de 17 mois qui avait été hospitalisé pour un traitement conservateur pour ébouillantement dans 6% de la surface corporelle totale de profondeur variable. Le quatrième jour, il a développé une exfoliation dans 85% de la surface corporelle. Quant au deuxième cas, il s’agissait d’un garçon de dix mois qui a subi une brûlure de 1% de la surface corporelle et qui a été traité en manière conservatrice dans la communauté par son médecin généraliste. Le cinquième jour, il a développé une exfoliation dans 80% de la surface corporelle. Le Staphylococcus aureus a été isolé qui provenait des brûlures dans les deux cas. Conclusion. Ces deux cas montrent qu’il est essentiel que les brûlologues et les spécialistes des soins intensifs soient au courant de la possibilité de la présence de SSSS chez des patients souffrant de brûlures, avec tous ses potentiels effets dévastateurs.

  2. MRI semi-circular canals in the cranio-facial asymmetry and cranio-mandibular syndrome; IRM des canaux semi-circulaires dans les asymetries cranio-faciales et le syndrome cranio-mandibulaire

    Energy Technology Data Exchange (ETDEWEB)

    Baudrillard, J.C.; Foucart, H.; Defache, C. [Centre Hospitalier, 62 -Lens (France); Rousie, D.; Hache, J.C. [Centre Hospitalier Universitaire, 59 - Lille (France); Van Tichelen, P. [Association de Posturologie, Rhumatologie, 59 - Lille (France); Lerais, J.M. [Centre Hospitalier, 39 - Dole (France)

    1995-09-01

    The cranio-mandibular syndrome (CMS) is often secondary to a cranio-facial asymmetry (CFA); it associates a painful masticatory dysfunction syndrome with functional and aching clinical signs in relation with a functional torticollis required for oculo-labyrinthal equilibration maintenance. Our anatomical and functional magnetic resonance imaging (MRI) protocol uses tridimensional study of semi-circular canals (SCC) up relation to the medial cerebral axis (MCA), and permit to measure precisely these CFA and propose, with a multi specialist approach, an adapted treatment of the CMS. Application of MRI to SCC asymmetry looks to its future use for spatial intracranial referential of cerebral structures. (authors). 17 refs., 9 figs.

  3. Scalloping at the lumbosacral canal

    Energy Technology Data Exchange (ETDEWEB)

    Reinhardt, R.

    1987-07-01

    Scalloping is an indentation of the dorsal side of the vertebral body (anterior wall of the lumbosacral or sacral canal) which typically involves several adjacent lumbal vertebral body segments and the anterior wall of the canalis sacralis. Occurrence without underlying disease is rare; it occurs most frequently with chondrodystrophy, neurofibromatosis, Morquio's syndrome, Hurler's syndrome, acromegaly, Ehlers-Danlos syndrome, Marfan's syndrome, cysts, tumors and in peridural lipomas.

  4. Superior Vena Cava Syndrome due to Thrombosis: A Rare Paraneoplastic Presentation of Bronchogenic Carcinoma

    Directory of Open Access Journals (Sweden)

    Avradip Santra

    2016-07-01

    Full Text Available Superior vena cava (SVC syndrome is not an uncommon occurrence in patients with malignancy and it is often described as a medical emergency. In majority of the cases, SVC syndrome occurs due to mechanical obstruction of the SVC by extraluminal compression with primary intrathoracic malignancies. However, intraluminal obstruction due to thrombosis can also produce symptoms and signs of SVC syndrome. Clot-related SVC obstruction is mostly associated with indwelling central venous catheter and pacemaker leads, although such thrombosis can occur spontaneously in a background of a hypercoagulable state, e.g., malignancy. Here, an unusual case of sudden onset SVC syndrome has been reported, which on initial radiologic evaluation was found to have a lung nodule without any significant mediastinal mass or adenopathy compressing SVC. Subsequent investigation with Doppler ultrasonography of the neck showed thrombosis in the right internal jugular, right subclavian and right brachiocephalic vein, which was responsible for SVC syndrome. Histopathological evaluation of lung nodule confirmed presence of an adenocarcinoma. Therefore, venous thromboembolism as a paraneoplastic syndrome should be kept in mind while evaluating a case of SVC obstruction in a cancer patient. Management of the underlying disease is of prime importance in such cases and anticoagulation is the mainstay of therapy. Ability to identify paraneoplastic syndrome may have a significant effect on clinical outcome, ranging from early diagnosis to improved quality of life of the patient.

  5. Cubital tunnel syndrome due to heterotrophic ossification caused by radial head fracture: A case report

    Directory of Open Access Journals (Sweden)

    Seyitali Gumustas

    2014-04-01

    Full Text Available Compression of the ulnar nerve in the cubital tunnel is the second most common nerve entrapment syndrome in the upper extremity after carpal tunnel syndrome. Although various etiologies have been described, heterotrophic ossification is rarely seen. Heterotrophic ossification should be kept in mind as a cause of ulnar nerve entrapment after elbow trauma. Early diagnosis and surgical intervention are important in such cases before completion of the maturation phase. We report a case of heterotrophic ossification due to elbow trauma that caused cubital tunnel syndrome. [Hand Microsurg 2014; 3(1.000: 24-28

  6. RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction

    Indian Academy of Sciences (India)

    Carlos A. Murga-Zamalloa; Anand Swaroop; Hemant Khanna

    2009-12-01

    Dysfunction of primary cilia due to mutations in cilia-centrosomal proteins is associated with pleiotropic disorders. The primary (or sensory) cilium of photoreceptors mediates polarized trafficking of proteins for efficient phototransduction. Retinitis pigmentosa GTPase regulator (RPGR) is a cilia-centrosomal protein mutated in >70% of X-linked RP cases and 10%–20% of simplex RP males. Accumulating evidence indicates that RPGR may facilitate the orchestration of multiple ciliary protein complexes. Disruption of these complexes due to mutations in component proteins is an underlying cause of associated photoreceptor degeneration. Here, we highlight the recent developments in understanding the mechanism of cilia-dependent photoreceptor degeneration due to mutations in RPGR and RPGR-interacting proteins in severe genetic diseases, including retinitis pigmentosa, Leber congenital amaurosis (LCA), Joubert syndrome, and Senior–Loken syndrome, and explore the physiological relevance of photoreceptor ciliary protein complexes.

  7. [A case of malignant syndrome with leukoencephalopathy due to cocaine abuse].

    Science.gov (United States)

    Yamazaki, K; Katayama, S; Iwai, T; Hirata, K

    1994-06-01

    We report a rare case of malignant syndrome with leukoencephalopathy due to cocaine abuse. The patient was a 22-year-old man. After nasally ingesting 4.2 g of cocaine, he developed coma, high grade fever of 39 degrees C, excessive sweating, muscular rigidity, and elevation of CK to 61,240 mU/ml. Although these symptoms improved in about 2 weeks, diffuse low density area of the cerebral white matter was observed in CT scan, and T2-weighted MRI revealed a high signal intensity area. Since disorientation and abnormal behavior appeared on the 24th hospital day after a lucid interval, sulpiride and haloperidol were administered. The patient again had fever, akinetic mutisn, severe muscular rigidity and excessive sweating. This patient has malignant syndrome associated with a wide-ranging lesion of the cerebral white matter as a result of cocaine abuse. And then antipsychotic drugs were administered for mental symptoms that recurred after a lucid interval, and second bouts of neuroleptic malignant syndrome occurred. There have been only a few reports on malignant syndrome due to cocaine, and there have been no reports on leukoencephalopathy due to cocaine or malignant syndrome.

  8. Cushing Syndrome in a 6-Month-Old Infant due to Adrenocortical Tumor

    Directory of Open Access Journals (Sweden)

    Volmar KeithE

    2009-09-01

    Full Text Available Cushing syndrome is rare in infancy and usually due to an adrenocortical tumor (ACT. We report an infant with Cushing syndrome due to adrenocortical carcinoma. The patient presented at six months of age with a three-month history of growth failure, rapid weight gain, acne, and irritability. Physical examination showed obesity, hypertension, and Cushingoid features. Biochemical evaluation showed very high serum cortisol, mildly elevated testosterone, and suppressed ACTH. Abdominal MRI revealed a heterogeneous right adrenal mass extending into the inferior vena cava. Evaluation for metastases was negative. The tumor was removed surgically en bloc. Pathologic examination demonstrated low mitotic rate, but capsular and vascular invasion. She received no adjuvant therapy. Her linear growth has improved and Cushingoid features resolved. Hormonal markers and quarterly PET scans have been negative for recurrence 24 months postoperatively. In conclusion, adrenocortical neoplasms in children are rare, but should be considered in the differential diagnosis of Cushing syndrome.

  9. Cushing Syndrome in a 6-Month-Old Infant due to Adrenocortical Tumor

    Directory of Open Access Journals (Sweden)

    Keith E. Volmar

    2009-01-01

    Full Text Available Cushing syndrome is rare in infancy and usually due to an adrenocortical tumor (ACT. We report an infant with Cushing syndrome due to adrenocortical carcinoma. The patient presented at six months of age with a three-month history of growth failure, rapid weight gain, acne, and irritability. Physical examination showed obesity, hypertension, and Cushingoid features. Biochemical evaluation showed very high serum cortisol, mildly elevated testosterone, and suppressed ACTH. Abdominal MRI revealed a heterogeneous right adrenal mass extending into the inferior vena cava. Evaluation for metastases was negative. The tumor was removed surgically en bloc. Pathologic examination demonstrated low mitotic rate, but capsular and vascular invasion. She received no adjuvant therapy. Her linear growth has improved and Cushingoid features resolved. Hormonal markers and quarterly PET scans have been negative for recurrence 24 months postoperatively. In conclusion, adrenocortical neoplasms in children are rare, but should be considered in the differential diagnosis of Cushing syndrome.

  10. A case of orbital apex syndrome due to Pseudomonas aeruginosa infection

    Directory of Open Access Journals (Sweden)

    Takeshi Kusunoki

    2011-11-01

    Full Text Available Orbital apex syndrome is commonly been thought to have a poor prognosis. Many cases of this syndrome have been reported to be caused by paranasal sinus mycosis. We encountered a very rare case (60-year-old woman of sinusitis with orbital apex syndrome due to Pseudomonas aeruginosa infection. She had received insulin and dialysis for diabtes and diabetic nephropathy, moreover anticoagulants after heart by-pass surgery. She underwent endoscopic sinus operation and was treated with antibiotics, but her loss of left vision did not improve. Recently, sinusitis cases due to Pseudomonas aeruginosa were reported to be a increasing. Therefore, we should consider the possibility of Pseudomonas aeruginosa as well as mycosis as infections of the sinus, especially inpatients who are immunocompromised body.

  11. A case of orbital apex syndrome due to Pseudomonas aeruginosa infection.

    Science.gov (United States)

    Kusunoki, Takeshi; Kase, Kaori; Ikeda, Katsuhisa

    2011-09-28

    Orbital apex syndrome is commonly been thought to have a poor prognosis. Many cases of this syndrome have been reported to be caused by paranasal sinus mycosis. We encountered a very rare case (60-year-old woman) of sinusitis with orbital apex syndrome due to Pseudomonas aeruginosa infection. She had received insulin and dialysis for diabtes and diabetic nephropathy, moreover anticoagulants after heart by-pass surgery. She underwent endoscopic sinus operation and was treated with antibiotics, but her loss of left vision did not improve. Recently, sinusitis cases due to Pseudomonas aeruginosa were reported to be a increasing. Therefore, we should consider the possibility of Pseudomonas aeruginosa as well as mycosis as infections of the sinus, especially inpatients who are immunocompromised body.

  12. Cochlear implant outcomes in patients with superior canal dehiscence

    NARCIS (Netherlands)

    Puram, Sidharth V.; Roberts, Daniel S.; Niesten, Marlien E F; Dilger, Amanda E.; Lee, Daniel J.

    2015-01-01

    Objective: To determine whether adult cochlear implant (CI) users with superior canal dehiscence syndrome (SCDS) or asymptomatic superior semicircular canal dehiscence (SCD) have different surgical, vestibular, and audiologic outcomes when compared to CI users with normal temporal bone anatomy. Meth

  13. Anthropometry in Klinefelter syndrome - multifactorial influences due to CAG length, testosterone treatment and possibly intrauterine hypogonadism

    DEFF Research Database (Denmark)

    Chang, Simon; Skakkebæk, Anne; Trolle, Christian;

    2015-01-01

    Context: Klinefelter syndrome, 47, XXY (KS), is underdiagnosed partly due to few clinical signs complicating identification of affected individuals. Certain phenotypic traits are common in KS. However, not all aspects of the KS phenotype are well described. Objective: To describe anthropometry...

  14. Maladaptive Behavior Differences in Prader-Willi Syndrome Due to Paternal Deletion versus Maternal Uniparental Disomy.

    Science.gov (United States)

    Dykens, Elisabeth M.; King, Bryan H.; Cassidy, Suzanne B.

    1999-01-01

    This study compared maladaptive behavior in 23 people with Prader-Willi syndrome due to paternal deletion and in 23 age- and gender-matched subjects with maternal uniparental disomy. Controlling for IQs, the deletion cases showed significantly higher maladaptive ratings, more symptom-related distress, and more behavior problems. Findings suggest a…

  15. Opsoclonus myoclonus ataxia syndrome due to falciparum malaria in two Indian children

    Directory of Open Access Journals (Sweden)

    Kallol Bose

    2016-01-01

    Full Text Available Opsoclonus-myoclonus ataxia (OMA syndrome is rare in children, mostly caused by neuroblastoma. Here, we present two very rare cases presenting with OMA due to falciparum malaria. Both of them responded to a high dose of adrenocorticotrophin hormone and intravenous immunoglobulin without recurrence and complication.

  16. Opsoclonus myoclonus ataxia syndrome due to falciparum malaria in two Indian children.

    Science.gov (United States)

    Bose, Kallol; Saha, Sudip; Islam, Md Rahiul; Chakraborty, Chayan; Laskar, Mustakim

    2016-11-01

    Opsoclonus-myoclonus ataxia (OMA) syndrome is rare in children, mostly caused by neuroblastoma. Here, we present two very rare cases presenting with OMA due to falciparum malaria. Both of them responded to a high dose of adrenocorticotrophin hormone and intravenous immunoglobulin without recurrence and complication.

  17. Prosthetic valve endocarditis due to Neisseria elongata subsp. elongata in a patient with Klinefelter's syndrome.

    Science.gov (United States)

    Evans, Morgan; Yazdani, Farah; Malnick, Henry; Shah, Jayesh J; Turner, David P J

    2007-06-01

    A case is reported of prosthetic valve endocarditis due to Neisseria elongata subsp. elongata in a patient with Klinefelter's syndrome. This is believed to be only the third case of endocarditis reported due to this subspecies. N. elongata is difficult to identify, and is morphologically and biochemically similar to Kingella spp. Sequencing of the 16S rRNA gene is useful for identification. The patient was successfully treated with amoxicillin and gentamicin, followed by ceftriaxone.

  18. Exérese do segmento vertical do canalículo lacrimal na síndrome do olho seco: estudo preliminar Removal of the vertical portion of the lacrimal canaliculus in dry eye syndrome

    Directory of Open Access Journals (Sweden)

    Eliana Forno

    2005-04-01

    Full Text Available OBJETIVO: Avaliar a eficácia e possíveis complicações da remoção do segmento vertical do canalículo lacrimal, em pacientes com síndrome do olho seco grave. MÉTODOS: Seis canalículos de quatro pacientes, 3 dos quais tinham o diagnóstico de olho seco associado à síndrome de Sjögren primária e o quarto, ceratoconjuntivite sicca por remoção completa de glândula lacrimal, foram submetidos a exérese do segmento vertical do canalículo lacrimal. Os critérios de inclusão foram: sinais e sintomas de olho seco que não melhoraram com tratamento clínico, Schirmer menor que 5 mm, rosa bengala corando córnea e conjuntiva e casos de recanalização após eletrocauterização dos pontos. Os pontos lacrimais foram avaliados por exame biomicroscópico após 7, 15, 30, 90 e 180 dias da cirurgia. RESULTADOS: No período de seguimento, nenhum canalículo sofreu recanalização. Em cinco olhos, houve diminuição da ceratite ponteada difusa e dos filamentos corneanos e melhora nos valores do teste de Schirmer e rosa bengala. No olho submetido à remoção completa da glândula lacrimal, a córnea ainda apresentava ceratite ponteada difusa, mesmo após dois meses de cirurgia. Não houve alterações da margem palpebral. CONCLUSÃO: Esta técnica, além de mostrar-se efetiva e simples para oclusão permanente do canalículo lacrimal, não cursou com complicações observadas em outros procedimentos.PURPOSE: To demonstrate the efficacy and possible complications of a surgical technique that includes the removal of the vertical portion of the lacrimal canaliculus in patients with dry eye syndrome. METHODS: A study was performed on six canaliculi of six eyes (four patients. Three patients had dry eye, associated with primary Sjögren syndrome. One of the four patients developed keratoconjuntivitis sicca due to lacrimal gland removal. The criteria included: patients with symptoms of dry eye that did not improve even with the continuous use of

  19. Hemarthrosis due to a rare cause of hemorrhagic diathesis: Ehlers-Danlos syndrome.

    Science.gov (United States)

    Giordano, Paola; Del Vecchio, Giovanni Carlo; Scaraggi, Rosanna; Cardinale, Fabio; Moretti, Biagio; Lassandro, Giuseppe; De Mattia, Domenico

    2008-01-01

    The authors report a case of hemarthrosis complicated by severe anemia related to a congenital connective tissue disease: Ehlers-Danlos syndrome. A boy fell down and suffered tumefaction of both knees with bilateral rupture of the rotula tendon. He underwent surgical reinsertion of each tendon on the rotula. He later showed an unexpected ongoing hematic effusion, with severe anemia. He was screened for coagulation disorders with no results. On taking a more detailed history and investigating the patient's phenotypical features, the authors diagnosed Ehlers-Danlos syndrome, hypermobile variant. The hemarthrosis and anemia were thus concluded to be consequences of excessive tissue fragility due to a congenital connective tissue disease.

  20. Fulminant intracranial hypertension due to cryptococcal meningitis in a child with nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    Leena Nagotkar

    2011-01-01

    Full Text Available Cryptococcus neoformans has a worldwide distribution. Meningoencephalitis is the most common manifestation of cryptococcosis. The outcome of a patient with cryptococcal infection depends on the immune status of the host. Patients with nephrotic syndrome are particularly susceptible to cryptococcal infection not only due to innate changes in their immune system but also because of the immunosuppressive agents used in the treatment. We report an 8-year-old boy with nephrotic syndrome, who developed cryptococcal meningitis and died of fulminant intracranial hypertension.

  1. canal24

    Data.gov (United States)

    California Department of Resources — Canal system center lines in the Central Valley of California and adjacent areas captured from 1:24,000-scale USGS topographic maps. Updates and modifications made...

  2. [Neonatal toxic shock syndrome due to Streptococcus pyogenes: case report and literature review].

    Science.gov (United States)

    Díaz A, Manuel

    2007-12-01

    The clinical history of a newborn child who died from toxic shock syndrome (TSS) due to group A Streptococcus (GAS) was summarized. Literature was reviewed by searching different databases and other sources. Previous to our patient, there were 6 neonatal patients with TSS due to GAS published with the clinical description of the cases and three others without detailed information. In conclusion, nowadays, infection due to GAS is not a frequent devastating disease during the neonatal period, but when it is present it can cause TSS with high lethality.

  3. Severe drug hypersensitivity syndrome due to sulphasalazine in patient with rheumatoid arthritis

    Directory of Open Access Journals (Sweden)

    W. Grassi

    2011-06-01

    Full Text Available Drug Hypersensitivity Syndrome, also known as Drug Rash with Eosinophilia and Systemic Symptoms is a severe adverse reaction characterized by clinical manifestations including fever, skin eruption, lymphoadenopathy, associated with eosinophilia, leukocytosis and multiple visceral involvement, with 10% of mortality due to development of multiple organ failure. This reaction usually occurs between two and six-eight weeks after the beginning of the treatment and may not resolve with interruption of the suspected drug. Sulfonamides, anticonvulsant, allopurinol are the most frequently involved molecules, but recently cases have been described also with gabapentin and strontium ranelate. In the present report we describe a case of a patient with rheumatoid arthritis who presented severe drug hypersensitivity syndrome, with liver and kidney involvement due to sulphasalazine.

  4. Down's syndrome is a risk factor for severe lower respiratory tract infection due to respiratory syncytial virus

    NARCIS (Netherlands)

    Galleguillos, Constanza; Galleguillos, Bárbara; Larios, Guillermo; Menchaca, Gonzalo; Bont, Louis; Castro-Rodriguez, Jose A

    2016-01-01

    AIM: Previous studies have suggested that Down's syndrome is an independent risk factor for severe respiratory infection due to respiratory syncytial virus (RSV). We compared the clinical characteristics of children with and without Down's syndrome hospitalised due to RSV. METHODS: This retrospectiv

  5. Malnutrition and inflammation in acute kidney injury due to earthquake-related crush syndrome

    OpenAIRE

    2010-01-01

    Abstract Background Malnutrition and inflammation are common and serious complications in patients with acute kidney injury (AKI). However, the profile of these complications in patients with AKI caused by crush syndrome (CS) remains unclear. This study describes the clinical characteristics of malnutrition and inflammation in patients with AKI and CS due to the Wenchuan earthquake. Methods One thousand and twelve victims and eighteen healthy adults were recruited to the study. They were divi...

  6. Multiple organ dysfunction syndrome due to massive wasp stings:an autopsy case report

    Institute of Scientific and Technical Information of China (English)

    ZHANG Ling; TANG Yi; LIU Fang; SHI Yu-ying; CAO Yu; XU Huan; FU Ping

    2012-01-01

    We reported a case of multiple organ dysfunction syndrome (MODS) following about 300 wasp stings.The diagnosis was based on autopsy findings of acute pulmonary edema,acute kidney injury,hepatic and cardiac dysfunction,and cerebral edema.MODS is a life-threatening complication,and should be considered a possibility after multiple wasp stings.Our autopsy helped to establish the cause of unexpected death due to wasp stings and to elucidate a possible mechanism of MODS.

  7. Surgical management of Guyon's canal syndrome, an ulnar nerve entrapment at the wrist: report of two cases Síndrome de compressão do nervo ulnar a nível do punho (síndrome do canal de Guyon: relato de dois casos

    Directory of Open Access Journals (Sweden)

    Paulo Henrique Aguiar

    2001-03-01

    Full Text Available Guyon's canal syndrome, an ulnar nerve entrapment at the wrist, is a well-recognized entity. The most common causes that involve the ulnar nerve at the wrist are compression from a ganglion, occupational traumatic neuritis, a musculotendinous arch and disease of the ulnar artery. We describe two cases of Guyon's canal syndrome and discuss the anatomy, aetiology, clinical features, anatomical classification, diagnostic criteria and treatment. It is emphasized that the knowledge of both the surgical technique and anatomy is very important for a satisfactory surgical result.A síndrome do canal de Guyon, um encarceramento do nervo ulnar a nível do punho, é bem conhecida. Ela é causada por neurite ocupacional traumática, doenças e traumas do arco músculo-tendíneo e doença de artéria ulnar. Descrevemos dois casos de síndrome do canal de Guyon e discutimos os aspectos anatômicos e etiológicos, suas características clínicas, classificação anatômica e critérios de diagnóstico, bem como fazemos uma análise crítica do tratamento imposto. Enfatizamos também que, para obter um resultado cirúrgico satisfatório, é importante conhecer bem tanto as técnicas cirúrgicas como sua anatomia.

  8. Love canal questions

    Science.gov (United States)

    Bell, Peter M.

    The Environmental Protection Agency (EPA) conducted a 3-month monitoring study of the Love Canal area near Niagara Falls, N.Y., after the federal government pronounced that a potential health risk existed due to chemical waste dumps. In 1982 the Department of Health and Human Services (HHS) decided that the area was habitable, subject to implementation of effective safeguards against leakage from the canal and to cleaning up of the contaminants. Now, the Congressional Office of Technology Assessment (OTA) has announced that, with the information available, it is not possible to demonstrate with certainty that unsafe levels do not exist within the so-called “emergency declaration area” (EDA).

  9. DE CANALES

    Directory of Open Access Journals (Sweden)

    Roberto Carlos Guevara C.

    2013-01-01

    Full Text Available La amplia utilización de redes WiFi en los diversos escenarios sociales está generando una especie de saturación de canales, que a su vez ocasiona interferencia entre estas redes. Esta situación genera solapamiento de canales, lo que hace que las tasas de trasferencia se reduzcan. En este artículo se detalla esta situación, y se estructura y aplica un experimento para encontrarle solución al problema. También se presentan los resultados tabulados y graficados utilizando la herramienta de software libre inSSider.

  10. Clinical experience of Pseudo-Meigs' Syndrome due to colon cancer

    Institute of Scientific and Technical Information of China (English)

    HiromichiMaeda; TakehrioOkabayashi; KazuhiroHanazaki; MichiyaKobayashi

    2011-01-01

    We report a rare case of Pseudo-Meigs' Syndrome caused by ovarian metastasis from sigmoid colon cancer, which was accompanied by peritoneal dissemination. A 58-year-old female patient presented with massive right pleural effusion, ascites and a huge pelvic mass. Under the diagnosis of an advanced ovarian tumor, bilateral oophorectomy was performed and sigmoidectomy was also carried out after intraoperative diagnosis of peritoneal dissemination involving the sigmoid colon. How- ever, immunohistochemical staining revealed that the ovarian lesions were metastasis from the primary advanced colon cancer. Postoperatively, ascites and pleural effusion subsided, and the diagnosis of Pseudo-Meigs' Syndrome due to a metastatic ovarian tumor from colon cancer was determined. The patient is now undergoing a regimen of chemotherapy for colon cancer without recurrence of ascites or hydrothorax 10 mo after the surgery. Pseudo-Meigs' Syndrome due to a metastaticovarian tumor from colon cancer is rare but clinically important because long-term alleviation of symptoms can be achieved by surgical resection. This case report suggests that selected patients, even with peritoneal dissemination, may obtain palliation from surgical resection of metastatic ovarian tumors.

  11. Compartment syndrome developed due to the plaster cast :Three cases report

    Directory of Open Access Journals (Sweden)

    Pinar Doruk

    2013-08-01

    Full Text Available Compartment syndrome can occur as a result of the complication of the plaster cast applications ,which are frequently used for fracture stabilization. This syndrome occurs due to increased compartment volume or shrinking of compartment area because of edema, hemorrage or high pressure of tissues. All of these mechanisms causes arteriolar compression, resulting nerve and muscle ischemia. Intensive and continuous pain is common and limits the motions of the patient and increases with passive stretching of the involved muscles. Swelling of limb, change in skin color, peripheral vasculatory failure symptoms such as pallor,weak arterial pulsation and as a result of peripheral nerve damage, sensorimotor deficit can also be observed. Clinical evaluation, measure of pressure within the compartment, and electroneuromyography (ENMG can be used for the diagnosis. In addition to treatment of to the treatment of etiology and pain, further treatment options such as fasciotomy, physiotherapy modalities, tendon transfers, can be performed. In this case report, we will discuss three patients with nerve lesions as a result of the compartment syndrome that developed due to the plaster casting of bone fractures. [Cukurova Med J 2013; 38(4.000: 774-778

  12. Multiple osteoblastomas in a child with Cushing syndrome due to bilateral adrenal micronodular hyperplasias

    Science.gov (United States)

    Yu, Hyeoh Won; Cho, Won Im; Choi, Keun Hee; Yun, Sumi; Cho, Hwan Seong; Shin, Choong Ho; Yang, Sei Won

    2016-01-01

    Adrenocorticotropin-independent adrenal hyperplasias are rare diseases, which are classified into macronodular (>1 cm) and micronodular (≤1 cm) hyperplasia. Micronodular adrenal hyperplasia is subdivided into primary pigmented adrenocortical disease and a limited or nonpigmented form 'micronodular adrenocortical disease (MAD)', although considerable morphological and genetic overlap is observed between the 2 groups. We present an unusual case of a 44-month-old girl who was diagnosed with Cushing syndrome due to MAD. She had presented with spotty pigmentation on her oral mucosa, lips and conjunctivae and was diagnosed with multiple bone tumors in her femur, pelvis and skull base at the age of 8 years. Her bone tumor biopsies were compatible with osteoblastoma. This case highlights the importance of verifying the clinicopathologic correlation in Cushing syndrome and careful follow-up and screening for associated diseases. PMID:27104180

  13. Acute respiratory failure due to refeeding syndrome and hypophosphatemia induced by hypocaloric enteral nutrition.

    Science.gov (United States)

    Patel, Utpal; Sriram, Krishnan

    2009-03-01

    We report a case of acute respiratory failure due to refeeding syndrome caused by hypocaloric enteral tube feeds. A 60-y-old obese man, with a diagnosis of esophageal carcinoma with local metastases, underwent feeding jejunostomy tube insertion. Enteral tube feeding was initiated at small volumes providing 4.4 kcal x kg(-1) x d(-1) and gradually increased over 48 h to 29 kcal x kg(-1) x d(-1) (based on adjusted body weight). The patient then developed acute respiratory distress requiring intubation and ventilatory support. Serum phosphorus (P) level was extremely low at 4 d to adequately correct the electrolyte derangements. Successful liberation from mechanical ventilation was then possible. In chronically malnourished patients undergoing nutritional support, even hypocaloric feeding should be considered a risk factor for developing refeeding syndrome leading to severe and acute electrolyte fluid-balance and metabolic abnormalities.

  14. Hunt综合征伴眩晕患者的半规管损伤频率特征%Frequency characteristics of the semicircular canals lesion in Hunt syndrome with vertigo

    Institute of Scientific and Technical Information of China (English)

    李姗姗; 陈太生; 董红; 林鹏; 温超; 程岩; 赵晖

    2012-01-01

    vestibular function tests,including caloric test ( CT),head shaking test (HST) and vHIT.The parameters of the unilateral weakness (UW),head shaking nystagmus (HSN) and video head impulse test gain (vHIT-G)were observed.The correlations and characteristics of the results of the three tests in Hunt syndrome with vertigo deal were analyzed with SPSS 16.0 software.Results The vaules of vHIT-G of the six groups semicircular canal in the control group were normal distribution without statistical significance ( F =0.005,P < 0.01 ),two sides anterior,horizontal and posterior semicircular canals vHIT-G average ( (x) ± s) were(16.80 ±9.80)%,(16.57 ± 10.30)%,(16.52 ± 11.12)% respectively; in the study group the separately vHIT-G of the three canals of the affected side were (46.96 ± 34.54) %,(75.35 ± 35.29 ) %and (41.65 ± 32.87)%,in which statistical significance comparing with the control group was detected( all P < 0.01 ); the positive one of the three tests vHIT,HSN and CT were 23 cases (88.46%),22 cases (84.61%)and 24 cases(92.31% ),bilateral exact propability x2 test all the P >0.05;there were Positive correlation between UW and the vHIT-G of lateral semicircular canal (r =0.692,P < 0.01 ).Conclusions The vestibular lesion of Hunt syndrome with vertigo is almost complete or multiple-frequency,which is characterized by the reduced or even aborted nerve conduction.Therefore,vHIT can be ultimately used for the screening test evaluating due to the vestibular function in Hunt syndrome with vertigo.

  15. Carcinoid syndrome, acromegaly, and hypoglycemia due to an insulin-secreting neuroendocrine tumor of the liver.

    Science.gov (United States)

    Furrer, J; Hättenschwiler, A; Komminoth, P; Pfammatter, T; Wiesli, P

    2001-05-01

    We report a patient with a hepatic neuroendocrine tumor showing an extraordinary change of the tumor's humoral manifestations from a clinically documented extrapituitary acromegaly and a typical carcinoid syndrome toward a hyperinsulinemic hypoglycemia syndrome. At the primary manifestation of the tumor, an increased serum level of insulin-like growth factor I due to overproduction of GHRH and an increased urinary excretion of 5-hydroxyindoleacetic acid were found. The clinical manifestation of the GHRH excess was an arthralgia, which resolved completely after operative tumor debulking and normalization of insulin-like growth factor I and GHRH serum levels. The secretion of serotonin from the tumor resulted in a typical carcinoid syndrome including right-sided valvular heart disease. On the later course of the disease, the humoral manifestations of the tumor were supplemented by the secretion of insulin, leading to recurrent severe hyperinsulinemic hypoglycemia. The hepatic origin of hyperinsulinism was demonstrated by selective arterial calcium stimulation. Moreover, tumor cells revealed insulin and C-peptide immunoreactivity in the immunohistochemical analysis. The patient died 8 yr after the initial diagnosis of the tumor, and a carefully performed autopsy procedure confirmed the absence of any extrahepatic tumor manifestation.

  16. Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutations.

    Science.gov (United States)

    Burke, Georgina; Hiscock, Andrew; Klein, Andrea; Niks, Erik H; Main, Marion; Manzur, Adnan Y; Ng, Joanne; de Vile, Catherine; Muntoni, Francesco; Beeson, David; Robb, Stephanie

    2013-02-01

    Congenital myasthenic syndromes due to DOK7 mutations cause fatigable limb girdle weakness. Treatment with ephedrine improves muscle strength. Salbutamol, a β(2)-adrenergic receptor agonist with fewer side effects and more readily available, has been effective in adult and anecdotal childhood cases. This study reports the effects of salbutamol on motor function in childhood DOK7 congenital myasthenic syndrome. Nine children (age range 5.9-15.1years) were treated with oral salbutamol, 2-4mg TDS. The effect on timed tests of motor function, pre- and up to 28months post-treatment, was audited retrospectively. All 9 reported functional benefit within 1month, with progressive improvement to a plateau at 12-18months. Within the first month, all 3 non-ambulant children resumed walking with assistance. Although improvements were seen in some timed tests (timed 10m, arm raise time, 6min walk time) this did not fully reflect the observed functional benefits in daily living activities. No major side effects were reported. We conclude that oral salbutamol treatment significantly improves strength in children with DOK7 congenital myasthenic syndrome and is well tolerated. Outcome measures need to be refined further, both to accurately reflect functional abilities in children and to document progress and treatment response.

  17. Letter to Editor: Carpal tunnel syndrome due to an atypical deep soft tissue leiomyoma: The risk of misdiagnosis and mismanagement

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    Caliandro Pietro

    2008-02-01

    Full Text Available Abstract A response to Chalidis et al: Carpal tunnel syndrome due to an atypical deep soft tissue leiomyoma: The risk of misdiagnosis and mismanagement. World J Surg Oncol 2007, 5:92.

  18. Skin vasomotor hemiparesis followed by overactivity: characteristic thermography findings in a patient with Horner syndrome due to spinal cord infarction.

    Science.gov (United States)

    Kobayashi, Makoto

    2016-04-01

    We present a 21-year-old female with Horner syndrome due to spinal cord infarction. In this patient, infrared thermography revealed a hemibody skin temperature increase followed by excessive focal decreases, indicating skin vasomotor hemiparesis and overactivity.

  19. Controle postural na síndrome de Pusher: influência dos canais semicirculares laterais Posture control in Pusher syndrome: influence of lateral semicircular canals

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    Taiza Elaine Grespan dos Santos Pontelli

    2005-08-01

    Full Text Available A síndrome de Pusher caracteriza-se por uma alteração do equilíbrio na qual pacientes com lesões encefálicas empurram-se em direção ao lado parético utilizando o membro não-afetado. O papel do sistema vestibular na alteração postural da síndrome de Pusher ainda não foi devidamente elucidado. OBJETIVO: Neste estudo objetivamos avaliar o papel dos canais semicirculares horizontais na expressão clínica da síndrome de Pusher, através da aplicação das provas calórica e rotatória. FORMA DE ESTUDO: Observacional, clínico e prospectivo. MATERIAL E MÉTODO: Avaliamos 9 pacientes com AVC e síndrome de Pusher internados na Enfermaria de Neurologia do HCFMRP-USP. Os pacientes foram submetidos à avaliação neurológica clínica e neuropsicológica, NIHSS, Scale for Contraversive Pushing - SCP, teste calórico e teste rotatório. RESULTADOS: Foram estudados 9 pacientes (5 homens com idade média de 71,8 ± 5,9 anos e com NIHSS médio de 18.33. Três pacientes apresentaram preponderância direcional contralateral à lesão encefálica na prova calórica. Na prova rotatória, foram observados quatro pacientes com preponderância direcional na análise de velocidade da componente lenta. CONCLUSÃO: Os resultados do presente estudo indicam que a disfunção dos canais semicirculares não parece ser fundamental para a expressão da síndrome de Pusher.Pusher syndrome is an interesting disorder of balance in patients with encephalic lesions characterized by the peculiar behavior of actively pushing away from the non-hemiparetic side and resisting against passive correction, with a tendency to fall toward the paralyzed side. The role of vestibular system on the pushing behavior is not clear. AIM: To evaluate horizontal semicircular canal function in patients with Pusher syndrome, using caloric and rotation tests. STUDY DESIGN: Observational prospective. MATERIAL AND METHOD: We evaluated 9 inpatients with stroke and Pusher syndrome at the

  20. SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid.

    Science.gov (United States)

    Parry, David A; Logan, Clare V; Stegmann, Alexander P A; Abdelhamed, Zakia A; Calder, Alistair; Khan, Shabana; Bonthron, David T; Clowes, Virginia; Sheridan, Eamonn; Ghali, Neeti; Chudley, Albert E; Dobbie, Angus; Stumpel, Constance T R M; Johnson, Colin A

    2013-12-05

    Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities (SAMS) has been reported previously to be a rare, autosomal-recessive developmental disorder with other, unique rhizomelic skeletal anomalies. These include bilateral humeral hypoplasia, humeroscapular synostosis, pelvic abnormalities, and proximal defects of the femora. To identify the genetic basis of SAMS, we used molecular karyotyping and whole-exome sequencing (WES) to study small, unrelated families. Filtering of variants from the WES data included segregation analysis followed by comparison of in-house exomes. We identified a homozygous 306 kb microdeletion and homozygous predicted null mutations of GSC, encoding Goosecoid homeobox protein, a paired-like homeodomain transcription factor. This confirms that SAMS is a human malformation syndrome resulting from GSC mutations. Previously, Goosecoid has been shown to be a determinant at the Xenopus gastrula organizer region and a segment-polarity determinant in Drosophila. In the present report, we present data on Goosecoid protein localization in staged mouse embryos. These data and the SAMS clinical phenotype both suggest that Goosecoid is a downstream effector of the regulatory networks that define neural-crest cell-fate specification and subsequent mesoderm cell lineages in mammals, particularly during shoulder and hip formation. Our findings confirm that Goosecoid has an essential role in human craniofacial and joint development and suggest that Goosecoid is an essential regulator of mesodermal patterning in mammals and that it has specific functions in neural crest cell derivatives.

  1. Horizontal Canal Benign Positional Vertigo

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    Mohtaram Najafi

    1998-03-01

    Full Text Available Benign paroxysmal positional vertigo (BPPV is a syndrome characterized by transient episodes of vertigo in association with rapid changes in head position in Dix-Halpike Maneuver. This kind of vertigo is thought to be caused by migration of otoconial debris into canals other than the posterior canal, such as the anterior or lateral canals. It is also theoretically possible for many aberrant patterns of BPPV to occur from an interaction of debris in several canals, location of debris within the canal, and central adaptation patterns to lesions. The symptoms of BPPV are much more consistent with free-moving densities (canaliths in the posterior SCC rather than fixed densities attached to the cupula. While the head is upright, the particles sit in the PSC at the most gravity-dependent position. The best method to induce and see vertigo and nystagmus in BPPV of the lateral semicircular canal is to rotate head 90°while patient is in the supine position, nystagmus would appear in the unaffected side weaker but longer than the affected side. canal paresis has been described in one third of the patients with BPPV. Adaptation which is one of the remarkable features of BPPV in PSC is rarely seen in LSC. Rotations of 270° or 360° around the yaw axis (the so-called barbecue maneuver toward the unaffected ear are popular methods for the treatment of geotropic HC-BPPV. These maneuvers consist of sequential head turning of 90° toward the healthy side while supine. With these maneuvers, the free-floating otoconial debris migrates in the ampullofugal direction, finally entering the utricle through the nonampullated end of the horizontal canal. This kind of vertigo recovers spontaneously more rapidly and suddenly.

  2. Severe jaundice due to coexistence of Dubin-Johnson syndrome and hereditary spherocytosis: a case report.

    Science.gov (United States)

    Korkmaz, Uğur; Duman, Ali Erkan; Oğütmen Koç, Deniz; Gürbüz, Yeşim; Dındar, Gökhan; Ensaroğlu, Fatih; Sener, Selçuk Yusuf; Sentürk, Omer; Hülagü, Sadettin

    2011-08-01

    Dubin-Johnson syndrome is a chronic, benign, intermittent jaundice, mostly of conjugated hyperbilirubinemia. The level of bilirubin is not expected to be more than 20 mg/dl in this syndrome. In this article, we report a patient who was evaluated for hyperbilirubinemia and liver function test abnormalities and diagnosed with Dubin-Johnson syndrome coexisting with hereditary spherocytosis. We suggest that other diseases should be investigated if patients with Dubin-Johnson syndrome present with severe hyperbilirubinemia. Dubin-Johnson syndrome accompanied by hemolytic diseases might also have high coproporphyrin levels (as in Rotor's syndrome) than expected in pure Dubin-Johnson syndrome.

  3. Angelman syndrome due to paternal uniparental disomy of chromosome 15: A milder phenotype?

    Energy Technology Data Exchange (ETDEWEB)

    Bottani, A.; Robinson, W.P.; DeLoizer-Blanchet, C.D.; Engel, E.; Morris, M.A.; Schmitt, Thun-Hohenstein, L.; Schinzel, A. [Univ. of Zuerich (Switzerland)

    1994-05-15

    The Angelman syndrome (AS) is a neurological disorder characterized by severe mental retardation, absent speech, seizures, gait disturbances, and a typical age-dependent facial phenotype. Most cases are due to an interstitial deletion on the maternally inherited chromosome 15, in the critical region q11-q13. Rare cases also result from paternal uniparental disomy of chromosome 15. In a group of 14 patients with sporadic AS diagnosed in Switzerland, we found 2 unrelated females with paternal isodisomy for the entire chromosome 15. Their phenotypes were milder than usually seen in this syndrome: one girl did not show the typical AS facial changes; both patients had late-onset mild seizures; as they grow older, they had largely undisturbed gross motor functions, in particular no severe ataxia. Both girls were born to older fathers (45 and 43 years old, respectively). The apparent association of a relatively milder phenotype in AS with paternal uniparental disomy will have to be confirmed by detailed clinical descriptions of further patients. 25 refs., 2 figs., 1 tab.

  4. An unusual presentation of Denys-Drash syndrome due to bigenic disease.

    Science.gov (United States)

    Eneman, Benedicte; Mekahli, Djalila; Audrezet, Marie-Pierre; Lerut, Evelyne; Van Damme-Lombaerts, Rita; Van den Heuvel, Lambertus; Levtchenko, Elena

    2014-01-01

    We report a case of Denys-Drash syndrome (DDS) in a 3-month-old girl presenting with bilateral renal cortical cysts mimicking polycystic kidney disease. Genetic analysis revealed a de novo heterozygous missense mutation c.1186G>A (p.Asp396Asn) in the WT1 gene, confirming the diagnosis of DDS. Because multiple renal cysts have never been reported in DDS, we explored several genes responsible for these renal manifestations, such as HNF-1β, PAX2, PKD1, and PKD2. Remarkably, we identified a heterozygous missense variant c.12439A>G (p.Lys4147Glu) in the PKD1 gene. The same variant was found in the patient's mother, who had no renal cysts, and in the grandfather, who had several renal cysts. Mutation prediction programs classified the c.12439A>G variant as being "likely pathogenic." We hypothesize that the severe cystic phenotype in the index patient could be due to the WT1 mutation, enhancing pathogenicity of the "hypomorph" PKD1 allele. A possible role for Wilms tumor suppressor 1 (WT1) in renal cyst development should be considered. From a conceptual point of view, this case shows that an unusual presentation of a known genetic syndrome might point to bigenic inheritance, with unexpected interference of mutated genes causing an uncommon clinical phenotype.

  5. Refeeding syndrome in a patient with advanced kidney failure due to nephronophthisis.

    Science.gov (United States)

    El-Reshaid, Kamel

    2013-11-01

    Refeeding syndrome (RS) is a serious and potentially fatal disorder. It is caused by a shift of fluids, sodium, potassium, magnesium and phosphorus as well changes in the metabolism of glucose, protein, fat and vitamins following the refeeding of malnourished patients, whether enterally or parenterally. RS has rarely been reported in patients with advanced kidney disease probably due to the pre-existing hyperphosphatemia, hypermagnesemia and hyperkalemia in these patients. In the following report, we present a patient with nephronophthisis type 1 deletion syndrome in whom her main previous nutrition was limited to simply rehydration to avoid renal replacement therapy. On presentation, she was cachectic and dehydrated with advanced kidney failure. She was treated with medical nephrectomy using non-steroidal anti-inflammatory drugs and then placed on maintenance hemodialysis. Percutaneous endoscopic gastrostomy was used for her initial feeding. Care was exercised during her early refeeding with regard to correction of fluids and essential electrolytes, viz. potassium, phosphorus and magnesium, as well as multivitamins to avoid the cardiovascular and neurological complications of RS. However, the changes in the gut, pancreas and liver as well as her hyperlipidemia were a clear obstacle. Fortunately, the ileus and pancreatitis she developed on refeeding improved dramatically with a decrease of the feeding dose to half; however, the liver abnormalities and hyperlipidemia were severe and slow to recover. These improved after addition of ursodeoxycholic acid and permitted successful increase of the dose of feeding subsequently.

  6. Refeeding syndrome in a patient with advanced Kidney failure due to Nephronophthisis

    Directory of Open Access Journals (Sweden)

    Kamel El-Reshaid

    2013-01-01

    Full Text Available Refeeding syndrome (RS is a serious and potentially fatal disorder. It is caused by a shift of fluids, sodium, potassium, magnesium and phosphorus as well changes in the metabolism of glucose, protein, fat and vitamins following the refeeding of malnourished patients, whether enterally or parenterally. RS has rarely been reported in patients with advanced kidney disease probably due to the pre-existing hyperphosphatemia, hypermagnesemia and hyperkalemia in these patients. In the following report, we present a patient with nephronophthisis type 1 deletion syndrome in whom her main previous nutrition was limited to simply rehydration to avoid renal replacement therapy. On presentation, she was cachectic and dehydrated with advanced kidney failure. She was treated with medical nephrectomy using non-steroidal anti-inflammatory drugs and then placed on maintenance hemodialysis. Percutaneous endoscopic gastrostomy was used for her initial feeding. Care was exercised during her early refeeding with regard to correction of fluids and essential electrolytes, viz. potassium, phosphorus and magnesium, as well as multivitamins to avoid the cardiovascular and neurological complications of RS. However, the changes in the gut, pancreas and liver as well as her hyperlipidemia were a clear obstacle. Fortunately, the ileus and pancreatitis she developed on refeeding improved dramatically with a decrease of the feeding dose to half; however, the liver abnormalities and hyperlipidemia were severe and slow to recover. These improved after addition of ursodeoxycholic acid and permitted successful increase of the dose of feeding subsequently.

  7. [A case of Avellis' syndrome with ipsilateral central facial palsy due to a small medullary infarction].

    Science.gov (United States)

    Takahashi, K; Kitani, M; Fukuda, H

    2000-04-01

    We report a 51-year-old man with mild left central facial palsy and left Avellis' syndrome due to a small medullary infarction. On admission, neurological examination revealed hoarseness, dysphasia, absent left gag reflex, palsies of the left vocal cord and left soft palate, and hypalgesia and thermohypesthesia on the right side of the trunk and extremities. In addition, he had a mild left central facial palsy. He had no nausea, vomiting, vertigo, hiccups, nystagmus, Horner's sign, facial numbness, or paresis or ataxia of the limbs. A T2 weighted MRI showed a small, high signal intensity area in the left dorsal region of the medulla and this lesion was presumed to involve the nucleus ambiguus and a part of the spinothalamic tract. These findings suggest that an aberrant supranuclear pathway, looping around the nucleus ambiguus to the facial nucleus exists in our patient.

  8. Recurrent Fever of Unknown Origin (FUO Due to Periodic Fever, Aphthous Stomatititis, Pharyngitis and Adenitis (FAPA Syndrome in an Adult

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    Sigridh Muñoz-Gómez

    2013-08-01

    Full Text Available FAPA syndrome (periodic fever, aphthous stomatititis, pharyngitis and adenitis is a relatively new entity described in pediatric patients. In adults, reports of FAPA are limited to rare case reports. The differential diagnosis of FAPA in adults includes Behcet’s syndrome, familial Mediterranean fever (FMF, Hyper IgD syndrome and juvenile rheumatoid arthritis (JRA, i.e., adult Still’s disease. With FAPA syndrome, between episodes patients are completely asymptomatic and serologic inflammatory markers such as erythrocyte sedimentation rate (ESR, C-reactive protein (CRP and white blood cell (WBC count are normal. The etiology of FAFA is unknown, but lack of secondary cases or clustering in close contacts, lack of seasonality, and the lack of progression for years argue against an infectious etiology. We describe an extremely rare case of an adult with a recurrent FUO with profuse night sweats and prominent chills due to FAPA syndrome.

  9. Malnutrition and inflammation in acute kidney injury due to earthquake-related crush syndrome

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    Zhang Yue

    2010-03-01

    Full Text Available Abstract Background Malnutrition and inflammation are common and serious complications in patients with acute kidney injury (AKI. However, the profile of these complications in patients with AKI caused by crush syndrome (CS remains unclear. This study describes the clinical characteristics of malnutrition and inflammation in patients with AKI and CS due to the Wenchuan earthquake. Methods One thousand and twelve victims and eighteen healthy adults were recruited to the study. They were divided into five groups: Group A was composed of victims without CS and AKI (904 cases; Group B was composed of patients with CS and AKI who haven't received renal replacement therapy (RRT (57 cases; and Group C was composed of patients with CS and AKI receiving RRT (25 cases; Group D was composed of earthquake victims with AKI but without CS (26 cases; and Group E was composed of 18 healthy adult controls. The C-reactive protein (CRP, prealbumin, transferrin, interleukin-6 and TNF-α were measured and compared between Group E and 18 patients from Group C. Results The results indicate that participants in Group C had the highest level of serum creatinine, blood urea nitrogen and uric acid. Approximately 92% of patients with CS who had RRT were suffering from hypoalbuminemia. The interleukin-6 and CRP levels were significantly higher in patients with CS AKI receiving RRT than in the control group. Patients in Group C received the highest dosages of albumin, plasma or red blood cell transfusions. One patient in Group C died during treatment. Conclusions Malnutrition and inflammation was common in patients with earthquake-related CS and had a negative impact on the prognosis of these subjects. The results of this study indicate that the use of RRT, intensive nutritional supplementation and transfusion alleviated the degree of malnutrition and inflammation in hemodialysis patients with crush syndrome.

  10. Greater trochanteric pain syndrome due to tumoral calcinosis in a patient with chronic kidney disease.

    Science.gov (United States)

    Baek, Dongjin; Lee, Sang Eun; Kim, Woo-Jin; Jeon, Sanghoon; Lee, Kihwa; Jung, Jaewook; Joo, Hyunchul; Park, Jaehong; Kim, Yonghan; Choi, Young-gyun

    2014-01-01

    Tumoral calcinosis is a rare syndrome characterized by massive subcutaneous soft tissue deposits of calcium phosphate near the large joints. It is more prevalent in patients with chronic kidney disease undergoing dialysis. A 57-year-old woman was referred to our pain clinic with the complaint of severe pain in the left buttock and lateral hip. The patient had been suffering from chronic kidney disease for 10 years and had been undergoing peritoneal dialysis over the past 5 years. The patient's symptom was initially suspected to be of lumbar origin at the L5 level and a left L5 transforaminal epidural block was performed, but without success. Re-evaluation of the physical examination revealed severe tenderness over the left greater trochanter and piriformis muscle. On ultrasonographic evaluation, multiple mass-like lesions in the left buttock were observed. About 30 mL of fluid was aspirated from the cystic lesions, followed by 30 mL mixture of 0.08% levobupivacaine and triamcinolone 40 mg injected into the bursa under ultrasound guidance, which brought pain relief. Trochanteric bursitis was thought of as the cause of the symptoms. The patient was diagnosed with tumoral calcinosis based on the past medical history, simple plain radiographs, and hip magnetic resonance imaging (MRI). We diagnosed a case of greater trochanteric pain syndrome due to tumoral calcinosis related to chronic kidney disease in a patient whose symptoms had initially been considered to be radiating leg pain caused by lumbar spinal disease. We report our experience of symptomatic improvement following the repeated ultrasound-guided aspiration of calcific fluid and the injection of a mixture of local anesthetic and steroid.

  11. Cerebral salt-wasting syndrome due to hemorrhagic brain infarction: a case report

    OpenAIRE

    Tanaka, Tomotaka; Uno, Hisakazu; Miyashita, Kotaro; Nagatsuka, Kazuyuki

    2014-01-01

    Introduction Cerebral salt-wasting syndrome is a condition featuring hyponatremia and dehydration caused by head injury, operation on the brain, subarachnoid hemorrhage, brain tumor and so on. However, there are a few reports of cerebral salt-wasting syndrome caused by cerebral infarction. We describe a patient with cerebral infarction who developed cerebral salt-wasting syndrome in the course of hemorrhagic transformation. Case presentation A 79-year-old Japanese woman with hypertension and ...

  12. Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review

    OpenAIRE

    Andrade, Luis Jesuino de Oliveira; Andrade, Rafael; França, Caroline Santos; Bittencourt,Alcina Vinhaes

    2009-01-01

    Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder with clinical and genetic heterogeneity. This syndrome was first described by Laurence and Moon in 1866 and additional cases were described by Bardet and Biedl between 1920 and 1922. The main features are obesity, polydactyly, pigmentary retinopathy, learning disabilities, various degrees of intellectual impairment, hypogonadism, and renal abnormalities. Bardet-Biedl syndrome is both phenotypically and genetically heterogeneou...

  13. Clinical variability in neurohepatic syndrome due to combined mitochondrial DNA depletion and Gaucher disease

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    Julie Harvengt

    2014-01-01

    Full Text Available A 1-year-old girl born to consanguineous parents presented with unexplained liver failure, leading to transplantation at 19 months. Subsequent partial splenectomy for persistent cytopenia showed the presence of foamy cells, and Gaucher disease was confirmed by homozygosity for the p.Leu483Pro mutation in the GBA gene. She was treated by enzyme replacement therapy (ERT. Clinical follow-up showed mild developmental delay, strabismus, nystagmus and oculomotor apraxia. Biochemical studies revealed multiple respiratory chain deficiencies and a mosaic pattern of deficient complex IV immunostaining in liver and fibroblast. Molecular analysis identified a mtDNA depletion syndrome due to the homozygous p.Pro98Leu mutation in MPV17. A younger sister unaffected by mtDNA depletion, presented with pancytopenia and hepatosplenomegaly. ERT for Gaucher disease resulted in visceral normalization without any neurological symptom. A third sister, affected by both conditions, had marked developmental delay, strabismus and ophthalmoplegia but no liver cirrhosis. In conclusion, intrafamilal variability occurs in MPV17-related disease. The combined pathological effect of Gaucher and mitochondrial diseases can negatively impact neurological and liver functions and influence the outcome in consanguineous families. The immunocytochemical staining of OXPHOS protein in tissues and cultured cells is a powerful tool revealing mosaic pattern of deficiency pointing to mtDNA-related mitochondrial disorders.

  14. Tolvaptan Treatment in Syndrome of Inappropriate ADH Secretion due to Small Cell Lung Cancer

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    Mucahit Gur

    2014-06-01

    Full Text Available Experience of ADH receptor antagonist (-vaptanes treatment in hyponatremia in malign patient is very limited. 68 years old male patient admitted to our department with a complain of nause, vomitting and epigastric pain. He has advanced stage of small cell lung cancer. He had treated with cisplatin and etoposide regimen 10 days ago as a first cure. We diagnosed inapropriate secretion of antidiuretic hormone syndrome (SIADH with low sodium level (118 meq/dl. Although the treatment with water restriction and 3% NaCl infusion, sodium level was not in normal. So we ordered 30 mg tolvaptan tablet. And then sodium levels were reached normal. After one month of discharge from hospital, he has hospitilized with same symptom and diagnosis. And again we ordered same treatment procedure and tolvaptane treatment. He had normal sodium (136 mEq/dl level during his follow up. This case demostrate that tolvaptane treatment is suitable aproaches in hyponatremia due to SIADH in oncologic patient.

  15. [Immune reconstitution syndrome due to BCG in HIV-treated children].

    Science.gov (United States)

    Miranda-Choque, Edwin; Candela-Herrera, Jorge; R Segura, Eddy; Farfán-Ramos, Sonia; Barriga, Aldo

    2012-01-01

    The objective of this study is to describe the clinical profile of the immune reconstitution syndrome due to Mycobacterium bovis Bacillus Calmette-Guérin (IRS-BCG) in children with HIV infection who receive highly active antiretroviral treatment (HAART) at Instituto Nacional de Salud del Niño de Lima (National Children's Health Institute of Lima), Peru. A case study was conducted, including 8 children with IRS-BCG, defined as the presence of regional lymphadenopathy or inflammation on the BCG vaccination site with at least one less logarithm in the viral load or immune improvement. All patients had AIDS (C3). The starting median age in HAART was 7.2 months and the event occurred 3 to 11 weeks after the treatment was started. 7 cases showed axillary adenitis. When compared with the Non IRS-BCG group, a significant association between the age at which HAART was started at one year, severe immunodepression, and increased viral load was found. It is concluded that IRS-BCG was related to a rapid clinical progression of the mother-to-child transmitted HIV/AIDS infection, severe immunosuppression and high viral load when the HAART began.

  16. Nephrotic syndrome due to immunoglobulin M mesangial glomerulonephritis preceding juvenile idiopathic arthritis.

    Science.gov (United States)

    Voyer, Luis E; Alvarado, Caupolican; Cuttica, Rubén J; Balestracci, Alejandro; Zardini, Marta; Lago, Néstor

    2013-05-21

    The association between nephrotic syndrome and juvenile idiopathic arthritis have rarely been described in pediatric patients. We report a child with steroid-responsive nephrotic syndrome, with frequent relapses, who presented with a new relapse of nephrotic syndrome associated with arthritis and uveitis at 21 months in remission after treatment with chlorambucil. Juvenile idiopathic arthritis was diagnosed and kidney biopsy examination showed mesangial glomerulonephritis with immunoglobulin M deposits. To our knowledge, only 2 cases of nephrotic syndrome preceding juvenile idiopathic arthritis have been reported, one without histopathology assessment and the other with minimal change disease. Although mesangial glomerulonephritis with nephrotic syndrome and juvenile idiopathic arthritis could have been coincidental, the immune pathogenic mechanism accepted for both diseases suggests they could be related.

  17. Sudden Cardiac Arrest due to Brugada Syndrome: a Case Report and Literature Review

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    R Soleimanirad

    2013-04-01

    Full Text Available Brugada Syndrome is a rare cause of sudden cardiac arrest and has a unique ECG pattern. In fact, with ST-segment elevation down sloping in the right precordial leads (v1-v3, RBBB pattern in lateral leads and J-point elevation is revealed. We must notice and avoid trigger factors of this syndrome during general anesthesia. Patient is a 39 old man who attended to emergency department with sudden cardiac arrest and resuscitate. He was transferred to ICU for management of hypoxic ischemic encephalopathy. Complementary studies concluded the diagnosis of Brugada syndrome. We must consider Brugada syndrome within patients with family history of sudden cardiac arrest. Moreover, we must avoid trigger factors of this syndrome such as fever, bradicardia and electrolyte abnormality (specialy Na, Ca abnormalities during general anesthesia and if they appear, we should treat them.

  18. Nephrotic Syndrome without Hematuria due to Infection-Related Glomerulonephritis Mimicking Minimal-Change Disease in a Child.

    Science.gov (United States)

    Iwafuchi, Yoichi; Morioka, Tetsuo; Morita, Takashi; Watanabe, Kanako; Oyama, Yuko; Narita, Ichiei

    2016-01-01

    Nephrotic syndrome without hematuria due to infection-related glomerulonephritis is uncommon. The present report describes a case of nephrotic syndrome due to infection-related glomerulonephritis without hematuria and hypertension in an older child. A 14-year-old boy was referred to our hospital because of a 5-day history of fever, nausea, weight gain and recent leg edema without hypertension. Laboratory data showed nephrotic-range proteinuria, hypoalbuminemia, mild hypocomplementemia and acute renal injury without hematuria. Although, due to the clinical presentation, minimal-change nephrotic syndrome was mostly suspected, a renal biopsy showed endocapillary hypercellularity mainly of mononuclear cells with segmental mesangiolytic changes. Fine granular IgG and C3 deposits were noted by an immunofluorescent study; many relatively small electron-dense deposits were observed electron-microscopically. These findings led to the diagnosis of nephrotic syndrome due to infection-related endocapillary proliferative glomerulonephritis, although the causative organism of his nephritis was not detected. He recovered with rest and dietary cure. When we examine an acute nephrotic child, infection-related glomerulonephritis should be considered as the differential diagnosis to avoid unnecessary use of corticosteroids.

  19. Piriformis Syndrome in Fibromyalgia: Clinical Diagnosis and Successful Treatment

    OpenAIRE

    Md Abu Bakar Siddiq; Moshiur Rahman Khasru; Rasker, Johannes J

    2014-01-01

    Piriformis syndrome is an underdiagnosed extraspinal association of sciatica. Patients usually complain of deep seated gluteal pain. In severe cases the clinical features of piriformis syndrome are primarily due to spasm of the piriformis muscle and irritation of the underlying sciatic nerve but this mysterious clinical scenario is also described in lumbar spinal canal stenosis, leg length discrepancy, piriformis myofascial pain syndrome, following vaginal delivery, and anomalous piriformis m...

  20. Canal Wall Reconstruction Mastoidectomy

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    Objective To investigate the advantages of canal wall reconstruction (CWR) mastoidectomy, a single-stage technique for cholesteatoma removal and posterior external canal wall reconstruction, over the open and closed procedures in terms of cholesteatoma recurrence. Methods: Between June 2002 and December 2005, 38 patients (40 ears) with cholesteatoma were admited to Sun Yat-Sen Memorial Hospital and received surgical treatments. Of these patients, 25 were male with ages ranging between 11 and 60 years (mean = 31.6 years) and 13 were female with ages ranging between 20 and 65 years (mean = 38.8 years). Canal wall reconstruction (CWR)mastoidectomy was performed in 31 ears and canal wall down (CWD) mastoidectomy in 9 ears. Concha cartilage was used for ear canal wall reconstruction in 22 of the 31 CWR procedures and cortical mastoid bone was used in the remaining 9 cases. Results At 0.5 to 4 years follow up, all but one patients remained free of signs of cholesteatoma recurrence, i.e., no retraction pocket or cholesteatoma matrix. One patient, a smoker, needed revision surgery due to cholesteatoma recurrence 1.5 year after the initial operation. The recurrence rate was therefore 3.2% (1/31). Cholesteatoma recurrence was monitored using postoperative CT scans whenever possible. In the case that needed a revision procedure, a retraction pocket was identified by otoendoscopy in the pars flacida area that eventually evolved into a cholesteatoma. A pocket extending to the epitympanum filled with cholesteatoma matrix was confirmed during the revision operation, A decision to perform a modified mastoidectomy was made as the patient refused to quit smoking. The mean air-bone gap in pure tone threshold was 45 dB before surgery and 25 dB after (p < 0.05). There was no difference between using concha cartilage and cortical mastoid bone for the reconstruction regarding air-bone gap improvement, CT findings and otoendoscopic results. Conclusion CWR mastoidectomy can be used for

  1. Refractory rickets due to Fanconi′s Syndrome secondary to Wilson′s disease

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    Chitra Selvan

    2012-01-01

    Full Text Available Renal tubular disorders are an important cause of refractory rickets. Wilson′s disease, an inherited disorder of copper metabolism has varied presentations. We present a case of refractory rickets due to Fanconi′s syndrome attributable to Wilson′s disease. An adolescent girl presented with pain in the hip and knee joints and a knock-knee deformity since six years. She had received multiple doses of cholecalciferol with little improvement. There was no history of seizures, polyuria, jaundice, intake of drugs, or similar complaints in the family. Examination revealed a severely short stature with widening of the wrist joint and genu valgum. Examination of the central nervous system (CNS was normal. Skeletal radiographs showed features suggestive of rickets at the hip and knee joints. Routine biochemistry was normal, 25-hydroxyvitamin D [25(OHD] was adequate (57.1 ng/dL, with normal corrected calcium (9.24 mg/dL, low phosphate (2.76 mg/dL, elevated bone-specific alkaline phosphatase, and normal renal functions. Twenty-four-hour urine revealed phosphaturia, kaliuresis, and glucosuria with normal blood sugars and aminoaciduria. Blood gas analysis revealed normal anion gap metabolic acidosis with a urine pH of 7. Ammonium chloride (NH 4 CL challenge test revealed proximal tubular acidosis. A search for causes revealed Kayser-Fleischer rings. The diagnosis of Wilson′s disease was confirmed by low serum ceruloplasmin levels (6.5 mg/dL; normal: 18-35 mg/dL with high 24-hour urine copper levels (433 mcg; normal: 20-50 mcg. She was started on a replacement of alkali, phosphate, calcium, and vitamin D, with zinc acetate for Wilson′s disease. Rickets as a presenting feature of Wilson′s disease has been reported rarely. Recognition of this entity is important, as treatment of the primary condition may improve tubular function as well.

  2. Rapid Death Due to Alcohol Withdrawal Syndrome: Case Report and Review of Literature

    Directory of Open Access Journals (Sweden)

    Rahul Mohanrao Band

    2015-03-01

    Full Text Available Background: Alcohol withdrawal syndrome (AWS is one of the most serious complications associated with chronic alcoholism. Sudden deaths are not uncommon in AWS. In severe stages of AWS, delirium tremens (DT occurs, which is characterized with agitation, global confusion, disorientation, visual and auditory hallucinations in addition to autonomic hyperactivity. Case report: A 30-year old man, chronic and heavy alcohol drinker for 10 years, abstained from alcohol for 3 days. Consequently, he started having palpitations, sweating and tremors. A day later, he was found having hallucinations and delirium. The patient was immediately transferred to the hospital. On admission, he was stuporous and had difficulty in breathing. He developed generalized seizures later on. He was successfully intubated, but there was bleeding through it. The patient’s condition deteriorated very rapidly and he died within two hours. After death, his body was transferred to forensic department. In autopsy, gastrointestinal tract was found to be intact. Massive pulmonary hemorrhage was present on cut section. Liver was found to be with yellowish discoloration and early cirrhotic changes. In heart, left ventricular hypertrophy with narrowed lumen was present and coronary arteries were patent. Discussion: Alcoholism is associated with liver dysfunction and especially in final phases with cirrhosis. Hence and due to resultant coagulopathy, patients are vulnerable to internal bleedings. Hypertrophic cardiomyopathy also occurs in chronic alcoholics. Therefore, we can speculate that our patient developed pulmonary hemorrhage as a result of combined effect of coagulopathy secondary to cirrhosis, alveolar damage (seizure and artificial ventilation and congestive heart failure. Conclusion: For a patient with delirium, convulsions, respiratory distress and coagulopathy, diagnosis of DT should be kept in mind.

  3. Specific MRI abnormalities reveal severe Perrault syndrome due to CLPP defects

    Directory of Open Access Journals (Sweden)

    Tom EJ Theunissen

    2016-11-01

    Full Text Available In establishing a genetic diagnosis in heterogeneous neurological disease, clinical characterization and whole exome sequencing (WES go hand-in-hand. Clinical data are essential, not only to guide WES variant selection and define the clinical severity of a genetic defect, but also to identify other patients with defects in the same gene. In an infant patient with sensorineural hearing loss, psychomotor retardation and epilepsy, WES resulted in identification of a novel homozygous CLPP frameshift mutation (c.21delA. Based on the gene defect and clinical symptoms, the diagnosis Perrault syndrome type 3 (PRLTS3 was established. The patient’s brain-MRI revealed specific abnormalities of the subcortical and deep cerebral white matter and the middle blade of the corpus callosum, which was used to identify similar patients in the Amsterdam brain-MRI database, containing over 3000 unclassified leukoencephalopathy cases. In three unrelated patients with similar MRI abnormalities the CLPP gene was sequenced, and in two of them novel missense mutations were identified together with a large deletion that covered part of the CLPP gene on the other allele. The severe neurological and MRI-abnormalities in these young patients were due to the drastic impact of the CLPP mutations, correlating with the variation in clinical manifestations among previously reported patients. Our data shows that similarity in brain-MRI patterns can be used to identify novel PRLTS3 patients, especially during early disease stages, when only part of the disease manifestations are present. This seems especially applicable to the severely affected cases in which CLPP function is drastically affected and MRI abnormalities are pronounced.

  4. A Rare Combination: Congenital Adrenal Hyperplasia Due To 21 Hydroxylase Deficiency and Turner Syndrome

    Science.gov (United States)

    Peltek Kendirci, Havva Nur; Aycan, Zehra; Çetinkaya, Semra; Baş, Veysel Nijat; Ağladıoğlu, Sebahat Yılmaz; Önder, Aşan

    2012-01-01

    A combination of Turner syndrome (TS) and classical congenital adrenal hyperplasia (CAH) is rare. A one-day-old newborn was referred to our hospital with ambiguous genitalia. The parents were third-degree relatives. The infant’s weight was 3350g (50-75p), and the head circumference was 34.5cm (50p). The gonads were nonpalpable. Presence of a 3 cm phallus, one urogenital opening into the perineum, and incomplete labial fusion were identified. Laboratory tests revealed a classical type of CAH due to 21-hydroxylase deficiency. Karyotyping revealed a 45X0(35)/46XX(22) pattern with negative sex-determining region Y (SRY) on gene analysis. At the most recent follow-up visit, the patient appeared to be in good health - her height was 70.4 cm [-1.5 standard deviation (SD)] and her weight was 9.8 kg (0.3 SD). She was receiving hydrocortisone in a dose of 10 mg/m2/day, fludrocortisone acetate in a dose of 0.075 mg/day, and oral salt of 1 g/day. System examinations were normal. The patient’s electrolyte levels were found to be normal and she was in good metabolic control. The findings of this patient demonstrate that routine karyotyping during investigation of patients with sexual differentiation disorders can reveal TS. Additionally, signs of virilism should always be investigated at diagnosis or during physical examinations for follow-up of TS cases. [i][/i]SRY analysis should be performed primarily when signs of virilism are observed. CAH should also be considered in patients with negative [i]SRY[/i]. Conflict of interest:None declared. PMID:23261864

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

    Directory of Open Access Journals (Sweden)

    Sanela Zukić

    2014-01-01

    Full Text Available 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.

  6. Phenotypic Analysis of Individuals With Costello Syndrome due to HRAS p.G13C

    OpenAIRE

    Gripp, Karen W.; Hopkins, Elizabeth; Sol-Church, Katia; Stabley, Deborah L.; Axelrad, Marni E.; Doyle, Daniel; Dobyns, William B; Hudson, Cindy; Johnson, John; Tenconi, Romano; Graham, Gail E.; Sousa, Ana Berta; Heller, Raoul; Piccione, Maria; Corsello, Giovanni

    2011-01-01

    Costello syndrome is characterized by severe failure-to-thrive, short stature, cardiac abnormalities (heart defects, tachyarrhythmia, and hypertrophic cardiomyopathy (HCM)), distinctive facial features, a predisposition to papillomata and malignant tumors, postnatal cerebellar overgrowth resulting in Chiari 1 malformation, and cognitive disabilities. De novo germline mutations in the proto-oncogene HRAS cause Costello syndrome. Most mutations affect the glycine residues in position 12 or 13, ...

  7. Lethal progressive thoracic insufficiency in a neonate due to jarcho levin syndrome.

    Science.gov (United States)

    Bhutia, Euden; Maria, Arti; Verma, Arushi; Sethi, Sidharth Kumar

    2014-01-01

    A rare case of Jarcho Levin syndrome (JLS) presenting as a lethal progressive respiratory insufficiency in early neonatal period is reported. The neonate had classical features of this syndrome including vertebral segmentation defects, typical costo-vertebral fusion defects and scoliosis resulting in small thoracic volume and limited chest expansion; all consistent with a clinical diagnosis of JLS with thoracic insufficiency. In addition, our case had a rare association of dextrocardia and acyanotic congenital heart disease.

  8. Acute Liver Failure Due to Budd-Chiari Syndrome in the Setting of Cardiac Synovial Sarcoma

    OpenAIRE

    Stine, Jonathan G.; Newton, Kelly; Vinayak, Ajeet G

    2015-01-01

    Primary malignant tumors of the heart, specifically cardiac sarcomas, are rare and mainly diagnosed at autopsy. Acute Budd-Chiari syndrome is a recognized cause of acute liver failure and has been associated with several rare cardiac tumors: atrial myxoma, caval rhabdomyosarcoma, and primary cardiac adenocarcinoma. We present the first case of a fatal, highly differentiated cardiac synovial sarcoma that presented as acute liver failure from Budd-Chiari syndrome.

  9. Síndrome de Lyell por imipramina: relato de caso Lyell syndrome due to imipramine: case report

    Directory of Open Access Journals (Sweden)

    Vanderson Glerian Dias

    2004-12-01

    Full Text Available O objetivo do artigo é relatar o caso de uma paciente de 43 anos com síndrome de Lyell relacionada à ingestão de imipramina e mostrar as alterações corneanas associadas a lesões dermatológicas típicas da síndrome de Lyell, que melhoraram após suspender o uso de imipramina e tratamento adequado. O oftalmologista deve estar apto para reconhecer, tratar e conduzir adequadamente os casos de síndrome de Lyell.The purpose is to describe a case of a 43-year-old patient with Lyell syndrome due to imipramine and to show the corneal alterations and dermatological lesions typical for Lyell syndrome that healed after imipramine discontinuation and adequate treatment. The ophthalmologist must be able to recognize, treat and adequately follow Lyell syndrome cases.

  10. Posterior reversible encephalopathy syndrome (PRES, an acute neurological syndrome due to reversible multifactorial brain edema: a case report

    Directory of Open Access Journals (Sweden)

    Camilla Cicognani

    2013-04-01

    Full Text Available Background: The essential features of Posterior Reversible Encephalopathy Syndrome (PRES are headache, mental changes, seizures, visual symptoms and often arterial hypertension. Brain RMN typically shows cortico-sottocortical parieto-occipital edema, with a bilateral and symmetric distribution. PRES develops in clinical conditions as hypertensive encephalopathy, preeclampsia/ eclampsia, autoimmune diseases, after transplantation, infections and as an adverse effect of immunosuppressive drugs or chemotherapy. It usually completely reverses with treatment, although permanent sequelae are possible in case of delayed or missed diagnosis. Case report: We describe the case of a transsexual (M!F and tetraplegic patient, admitted for neck and low back pain. She suddenly developed headache, confusion, seizures and severe hypertension with normal blood tests. RMN showed multiple cortico-sottocortical areas of vasogenic and citotoxic edema in temporo-occipital, parietal, frontal, and cerebellar regions. Soon after the beginning of the antihypertensive therapy, clinical recovery was observed, as well as the disappearance of edema at RMN. Discussion and conclusions: Although PRES is usually associated with definite pathological conditions, it is not always the case, as was for the patient here described, who had no predisposing factors in her past clinical history, and presented hypertension only in the acute phase of the syndrome. Since, moreover, PRES usually presents with acute non specific features and it can be misdiagnosed with other serious diseases, the clinician will be helped by the knowledge of this syndrome to promptly start diagnostic workup and treatments, and avoid permanent neurological deficits.

  11. Case of inappropriate ADH syndrome: hyponatremia due to polyethylene glycol bowel preparation.

    Science.gov (United States)

    Ko, Sun-Hye; Lim, Chul-Hyun; Kim, Jae-Young; Kang, Seung Hun; Baeg, Myong Ki; Oh, Hyun Jin

    2014-09-14

    Colonoscopic screening has been reported to reduce deaths from colorectal cancer. Adequate bowel preparation is essential for this and safety is an important issue in choosing the methods. Polyethylene glycol (PEG) is regarded as a safe method for cleansing, especially compared with oral sodium phosphate. Here, we present a case of hyponatremia caused by the syndrome of inappropriate antidiuretic hormone (ADH) syndrome after PEG precolonoscopic cleansing resulting in generalized tonic-clonic seizures. A 62-year-old women had ingested PEG for precolonoscopic bowel cleansing. While waiting for the colonoscopy, she developed a stuporous mentality and generalized tonic-clonic seizures, which did not correlate with brain magnetic resonance imaging. Her serum sodium level was 113 mEq per liter and laboratory analyses were consistent with inappropriate ADH syndrome. Her thyroid and adrenal functions were normal. There were no malignancies, infections, respiratory disorders or central nervous disorders and she had no history of taking either diuretics or other medications, which might have caused inappropriate ADH syndrome. She was treated with 3% hypertonic saline and showed a complete neurological recovery as her sodium levels recovered. Follow-up visits showed the patient to have a normal sodium level without neurologic deficits. This case shows that inappropriate ADH syndrome can be caused by PEG preparation, which implies that physicians have to be aware of the possible side effects of this colonic cleansing approach and mindful of the possible ensuing symptoms.

  12. Serotonin syndrome due to fluoxetine and tramadol in renal impaired patient

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    Rajnish Raj

    2014-02-01

    Full Text Available Serotonin syndrome causes confusion or altered mental status; other symptoms include myoclonus, shivering, tremors, diaphoresis, hyperreflexia, incoordination, fever and diarrhoea. Tramadol possesses dual pharmacological effects i.e., a weak opiate agonist at mu, kappa and delta opiate receptors along with reuptake inhibition of norepinephrine and serotonin. Risk associated with tramadol increases when co-administered with serotonergic antidepressants or MAOIs (monoamine oxidase inhibitors and in renal impaired. The incidence of this syndrome is less than 1% as most of the cases remain unreported. The case highlights the fact that interaction between serotonergic agents like fluoxetine and tramadol especially in the presence of co-morbid medical illness can lead to serotonin syndrome. [Int J Basic Clin Pharmacol 2014; 3(1.000: 227-229

  13. Further case of Rubinstein-Taybi syndrome due to a deletion in EP300.

    LENUS (Irish Health Repository)

    Foley, Patricia

    2012-02-01

    Rubinstein-Taybi syndrome (RSTS) is a heterogeneous disorder with approximately 45-55% of patients showing mutations in the CREB binding protein and a further 3% of patients having mutations in EP300. We report a male child with a deletion of exons 3-8 of the EP300 gene who has RSTS. He has a milder skeletal phenotype, a finding that has been described in other cases with EP300 mutations. The mother suffered from pre-eclampsia and HELLP syndrome in the pregnancy. She subsequently developed a mullerian tumor of her cervix 6 years after the birth of her son.

  14. Impotence due to external Iliac steal syndrome: Treatment with percutaneous transluminal angioplasty and stent placement

    Energy Technology Data Exchange (ETDEWEB)

    Gur, Serkan [Sifa University, Dept. of Radiology, Izmir (Turkmenistan); Oguzkurt, Levent; Kaya, Bilal; Tekbas, Guven; Ozkan, Ugur [Baskent University, Faculty of Medicine, Dept. of Radiology, Adana (Turkmenistan)

    2013-01-15

    We report a case of erectile dysfunction caused by external iliac artery occlusion, associated with pelvic steal syndrome; bilateral internal iliac arteries were patent. The patient stated that he had experienced erectile dysfunction at similar times along with claudication, but he did not mention it before angiography. He expressed that the erectile dysfunction did not last long and that he felt completely okay after the interventional procedure, in addition to his claudication. Successful treatment of the occlusion, by percutaneous transluminal angioplasty and stent implantation, helped resolve erectile dysfunction completely and treat the steal syndrome.

  15. Fanconi syndrome due to prolonged use of low-dose adefovir

    Directory of Open Access Journals (Sweden)

    Xiao-Bing Wang

    2015-01-01

    Full Text Available Fanconi syndrome results from a generalized abnormality of the proximal tubules of the kidney and owing to phosphate depletion can cause hypophosphatemic osteomalacia. Adefovir dipivoxyl (ADV effectively suppresses hepatitis B virus replication but exhibits nephrotoxicity when administered at a low dosage. We report two cases of Fanconi syndrome induced by ADV at 10 mg/day to call for regular screening for evidence of proximal tubular dysfunction and detailed bone metabolic investigations for prompt detection of ADV nephrotoxicity is critically important to ensure timely drug withdrawal before the development of irreversible tubulointerstitial injury.

  16. Posterior semicircular canal dehiscence: a morphologic cause of vertigo similar to superior semicircular canal dehiscence

    Energy Technology Data Exchange (ETDEWEB)

    Krombach, G.A.; Schmitz-Rode, T.; Haage, P.; Guenther, R.W. [Department of Diagnostic Radiology, University of Technology, Pauwelstrasse 30, 52057, Aachen (Germany); DiMartino, E. [Department of Otorhinolaryngology, University of Technology, Pauwelstrasse 30, 52057, Aachen (Germany); Prescher, A. [Department of Anatomy, University of Technology, Pauwelstrasse 30, 52057, Aachen (Germany); Kinzel, S. [Department of Experimental Veterinarian Medicine, University of Technology, Pauwelstrasse 30, 52057, Aachen (Germany)

    2003-06-01

    Heading Abstract.The aim of this study was to assess imaging findings of posterior semicircular dehiscence on computed tomography and to evaluate incidence of posterior and superior semicircular canal dehiscence in patients presenting with vertigo, sensorineuronal hearing loss or in a control group without symptoms related to the inner ear. Computed tomography was performed in 507 patients presenting either with vertigo (n=128; 23 of these patients suffered also from sensorineuronal hearing loss), other symptoms related to the inner ear, such as hearing loss or tinnitus (n=183) or symptoms unrelated to the labyrinth (n=196). All images were reviewed for presence of dehiscence of the bone, overlying the semicircular canals. Twenty-nine patients had superior semicircular canal dehiscence. Of these patients, 83% presented with vertigo, 10% with hearing loss or tinnitus and the remaining 7% with symptoms unrelated to the inner ear. In 23 patients dehiscence of the posterior semicircular canal was encountered. Of these patients, 86% presented with vertigo, 9% with hearing loss or tinnitus and 5% with symptoms unrelated to the inner ear. Defects of the bony overly are found at the posterior semicircular canal, in addition to the recently introduced superior canal dehiscence syndrome. Significant prevalence of vertigo in these patients suggests that posterior semicircular canal dehiscence can cause vertigo, similar to superior semicircular canal dehiscence. (orig.)

  17. Severe manifestation of Leber's hereditary optic neuropathy due to 11778G>A mtDNA mutation in a female with hypoestrogenism due to Perrault syndrome.

    Science.gov (United States)

    Badura-Stronka, Magdalena; Wawrocka, Anna; Zawieja, Krzysztof; Silska, Sylwia; Krawczyński, Maciej Robert

    2013-11-01

    Perrault syndrome (PS) is a rare autosomal recessive condition with ovarian dysgenesis, hearing deficit and neurological abnormalities in female patients. The molecular basis of the syndrome is heterogeneous, mutations in the HSD17B4 gene have been identified in one family and mutations in the HARS2 gene have been found in another one. We have excluded pathogenic changes in the HSD17B4 gene and in the HARS2 gene by a direct sequencing of all coding exons in a female with clinical hallmarks of PS, ataxia and mild mental retardation. In addition, the patient suffers from severe Leber's hereditary optic neuropathy (LHON) due to 11778G>A mtDNA mutation. This case is the first reported patient with PS and LHON. Possible influence of hypoestrogenism on the manifestation of optic neuropathy in this patient is discussed in the context of recent findings concerning the crucial role of estrogens in supporting the vision capacity in LHON-related mtDNA mutation carriers.

  18. Hemolytic uremic syndrome due to Capnocytophaga canimorsus bacteremia after a dog bite

    NARCIS (Netherlands)

    Tobe, TJM; Franssen, CFM; Zijlstra, JG; de Jong, PE; Stegeman, CA

    1999-01-01

    The hemolytic uremic syndrome (HUS) is known to have several causes, including infectious diseases, drugs, pregnancy, and malignant disease. We report a patient who developed acute renal failure attributable to HUS in the course of Capnocytophaga canimorsus bacteremia. Acute tubular necrosis as well

  19. Spontaneous Thrombosis of a Bicuspid Aortic valve due to Primary Antiphospholipid Syndrome

    Directory of Open Access Journals (Sweden)

    Sarah Farrell

    2010-08-01

    Full Text Available We present the case of a 51-year-old man who was admitted as an emergency with spontaneous thrombosis of the aortic valve and ascending aorta. At operation he was found to have a congenitally bicuspid aortic valve and subsequent investigation revealed primary antiphospholipid syndrome. He underwent successful removal of the thrombus combined with mechanical replacement of the aortic valve.

  20. Myocardial ischaemia with a normal coronary angiogram due to the primary antiphospholipid syndrome

    NARCIS (Netherlands)

    de Vries, PAM; van der Sluis, A; van der Horst, JCC; van Veldhuisen, DJ

    2002-01-01

    In this case report, we describe a 33-year-old woman with a history of two unprovoked thrombo-embolic events presenting with acute myocardial ischaemia. She had a normal coronary angiogram (CAG). The diagnosis primary antiphospholipid syndrome (APS), an acquired hypercoagulability disorder, was esta

  1. ADULT RESPIRATORY-DISTRESS SYNDROME (ARDS) DUE TO BACTEREMIC PNEUMOCOCCAL PNEUMONIA

    NARCIS (Netherlands)

    MANNES, GPM; BOERSMA, WG; BAUR, CHJM; POSTMUS, PE

    1991-01-01

    We describe a patient, who had no pre-existing disease, with bacteraemic pneumococcal pneumonia and adult respiratory distress syndrome (ARDS), a rare complication. In spite of the use of antibiotics and intensive treatment the mortality rate of this kind of infection remains high. Streptococcus pne

  2. A Case Report About Cluster-Tic Syndrome Due to Venous Compression of the Trigeminal Nerve

    NARCIS (Netherlands)

    de Coo, Ilse; van Dijk, J. Marc C.; Metzemaekers, Jan D M; Haan, Joost

    2016-01-01

    BACKGROUND: The term "cluster-tic syndrome" is used for the rare ipsilateral co-occurrence of attacks of cluster headache and trigeminal neuralgia. Medical treatment should combine treatment for cluster headache and trigeminal neuralgia, but is very often unsatisfactory. CASE: Here, we describe a 41

  3. [From gene to disease; craniosynostosis syndromes due to FGFR2-mutation

    NARCIS (Netherlands)

    Ravenswaaij-Arts, C.M.A. van; Ouweland, A.M.W. van den; Hoogeboom, A.J.M.; Herbergs, J.; Pals, G.

    2002-01-01

    One of the genes involved in craniosynostosis syndromes is the fibroblast growth factor receptor 2 (FGFR2) gene, a tyrosine kinase receptor gene. Upon ligand binding the FGFR2 receptors dimerise, and this is followed by activation of the intracellular tyrosine kinase domains. This initiates a cascad

  4. Unusual Presentation of Gianotti-Crosti Syndrome due to Epstein-Barr Virus Infection.

    Science.gov (United States)

    Al Dhaheri, Hind Saif; Al Kaabi, Amani; Kara Hamo, Yasmin; Al Kaabi, Aysha; Al Kaabi, Salwa; Al Tatari, Hossam

    2016-01-01

    Gianotti-Crosti syndrome (GCS) is viral exanthema of childhood. It typically presents with a symmetric erythematous papular and papulovesicular eruption. It has been classically associated with hepatitis B virus, as well as rarely with Epstein-Barr virus (EBV). We report a case of GCS related to EBV infection without the classical systemic symptoms in a five-year-old male patient.

  5. Painful Horner syndrome due to arteritis of the internal carotid artery

    NARCIS (Netherlands)

    Bollen, AE; Krikke, AP; de Jager, AEJ

    1998-01-01

    A 44-year-old man presented with painful Horner syndrome: severe periorbital pain, ptosis, and miosis of his right eye, with intact facial sweating. Lymphadenitis at the right side of his neck preceded the symptoms. MRI and magnetic resonance angiography showed thickening of the right internal carot

  6. Superior vena cava syndrome due to intravascular thrombosis in a patient with rheumatoid arthritis without antiphospholipid antibody syndrome: Is rheumatoid arthritis a separate hypercoagulable state

    Directory of Open Access Journals (Sweden)

    Pramila Dharmshaktu

    2014-03-01

    Full Text Available We report a 60 year male with long history of joint pain later diagnosed as rheumatoid arthritis (RA who presented with dyspnoea and swelling over neck& upper chest. A clinical diagnosis of superior vena cava (SVC syndrome was made. Patient fulfilled criteria for definite rheumatoid arthritis supported with positive serology. Contrast enhanced computerized tomography (CECT scan of chest revealed thrombosis in SVC. Patient was investigated for the cause of SVC thrombosis. Anti nuclear antibody (ANA test was negative. Anti cardiolipin antibody was done to rule out antiphospholipid antibody (APLA syndrome which has a known association with rheumatoid arthritis to cause intravascular thrombosis but was negative. Digital rectal examination (DRE and prostate specific antigen (PSA levels were normal. Further investigations as a part of thrombophilia work up were normal. There are case reports where RA is associated with SVC syndrome but only when it is associated mediastinal lymphadenopathy or SVC thrombosis due to APLA Syndrome. This case suggests RA per se as hypercoagulable state.

  7. Piriformis syndrome in fibromyalgia: clinical diagnosis and successful treatment.

    Science.gov (United States)

    Siddiq, Md Abu Bakar; Khasru, Moshiur Rahman; Rasker, Johannes J

    2014-01-01

    Piriformis syndrome is an underdiagnosed extraspinal association of sciatica. Patients usually complain of deep seated gluteal pain. In severe cases the clinical features of piriformis syndrome are primarily due to spasm of the piriformis muscle and irritation of the underlying sciatic nerve but this mysterious clinical scenario is also described in lumbar spinal canal stenosis, leg length discrepancy, piriformis myofascial pain syndrome, following vaginal delivery, and anomalous piriformis muscle or sciatic nerve. In this paper, we describe piriformis and fibromyalgia syndrome in a 30-year-old young lady, an often missed diagnosis. We also focus on management of the piriformis syndrome.

  8. Piriformis Syndrome in Fibromyalgia: Clinical Diagnosis and Successful Treatment

    Directory of Open Access Journals (Sweden)

    Md Abu Bakar Siddiq

    2014-01-01

    Full Text Available Piriformis syndrome is an underdiagnosed extraspinal association of sciatica. Patients usually complain of deep seated gluteal pain. In severe cases the clinical features of piriformis syndrome are primarily due to spasm of the piriformis muscle and irritation of the underlying sciatic nerve but this mysterious clinical scenario is also described in lumbar spinal canal stenosis, leg length discrepancy, piriformis myofascial pain syndrome, following vaginal delivery, and anomalous piriformis muscle or sciatic nerve. In this paper, we describe piriformis and fibromyalgia syndrome in a 30-year-old young lady, an often missed diagnosis. We also focus on management of the piriformis syndrome.

  9. Vesicourethral reflux-induced renal failure in a patient with ICF syndrome due to a novel DNMT3B mutation.

    Science.gov (United States)

    Kutluğ, Seyhan; Ogur, Gönül; Yilmaz, Aysegül; Thijssen, Peter E; Abur, Ummet; Yildiran, Alisan

    2016-12-01

    ICF syndrome is a primary immunodeficiency disease characterized by hypo- or agammaglobulinemia, centromeric instability mainly on chromosomes 1, 9, and 16 and facial anomalies. ICF syndrome presents with frequent respiratory tract infections in infancy. A 20-month-old female patient was referred to our clinic due to frequent lower respiratory tract infections. ICF syndrome was considered because of comorbidity of hypogammaglobulinemia, facial anomalies, and neuromotor growth retardation. Metaphase chromosome analysis revealed centromeric instability on chromosomes 1, 9, and 16 and through Sanger a previously unreported homozygous missense mutation (c.1805T>C; [p.V602A]) was identified in the DNMT3B, confirming ICF1. The patient was found to have a breakdown in renal function 1 year later; the urinary system was examined and bilateral vesicoureteral reflux was found, warranting the need for dialysis in time. This report expands the mutation spectrum of ICF1 and is the first to describe bilateral vesicoureteral reflux accompanying ICF syndrome. © 2016 Wiley Periodicals, Inc.

  10. Cerebral salt wasting syndrome due to tuberculous meningitis; a case report.

    Science.gov (United States)

    Ahmad, Syed; Majid, Zain; Mehdi, Mehwish; Mubarak, Muhammed

    2016-01-01

    A 58-year-old male presented with fever, nausea, and vomiting since 15 days along with irritability and confusion since 5 days. His laboratory reports showed low serum sodium, serum osmolality and uric acid. Computerized tomography (CT) scan of brain revealed age-related changes. While on lumbar puncture (LP) and cerebrospinal fluid (CSF) examination, CSF protein, lactate dehydrogenase (LDH) and total leukocyte count (predominant lymphocytes) were all increased. On his 14th day of admission, his serum sodium was 116 mEq/l and he had a high urine output. Fluid restriction was tried in order to rule out syndrome of inappropriate antidiuretic hormone secretion (SIADH) but the patient did not respond to it. Keeping in view the above findings, a final diagnosis of tuberculous meningitis leading to cerebral salt wasting syndrome was made. The patient was started on 3% hypertonic saline, mineralocorticoids and anti-tuberculous therapy (ATT), to which he responded favorably and was later discharged.

  11. Hereditary mixed polyposis syndrome due to a BMPR1A mutation.

    LENUS (Irish Health Repository)

    O'Riordan, J M

    2010-06-01

    The conditions Juvenile Polyposis Syndrome (JPS) and Hereditary Mixed Polyposis Syndrome (HMPS) are associated with an increased risk of colorectal carcinoma. The genetic mechanisms which explain these conditions have until recently been poorly understood. Recent interest has focused on the transforming growth factor (TGF)-beta signalling pathway and, in particular, on mutations in the SMAD4 gene. However, not all cases of JPS and HMPS have mutations in SMAD4 and focus has now shifted to other components of the TGF-beta pathway to clarify the genetic mechanisms involved in these conditions. In this report, we describe the significance of a bone morphogenetic protein receptor type 1A gene mutation in an Irish family.

  12. [Case report: respiratory infection due to Alcaligenes xylosoxidans in a patient with Mounier-Kuhn syndrome].

    Science.gov (United States)

    Arroyo-Cózar, Marta; Ruiz-García, Montserrat; Merlos, Eva M; Vielba, David; Macías, Enrique

    2012-10-01

    Mounier-Kuhn syndrome is a rare entity characterized by abnormal dilatation of the trachea and main bronchi (tracheobronchomegaly). Alcaligenes xylosoxidans is a non fermenting gram-negative pathogen common in extra-and intra-hospital environment, which may be related to immunosuppression states. We describe the case of a 75 years old male, ex-smoker with moderate functional obstruction, chronic respiratory failure and chronic colonization by Pseudomonas aeuriginosa. He had an infectious exacerbation of his disease, reason that previously required several hospital admissions. The patient was treated with antibiotics and his evolution was favourable with negativization in cultures of the pathogen. This is the first description of the isolation of Alcaligenes xylosoxidans as a cause of respiratory infection in a patient with Mounier-Kuhn syndrome.

  13. Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.

    Science.gov (United States)

    Gripp, Karen W; Hopkins, Elizabeth; Sol-Church, Katia; Stabley, Deborah L; Axelrad, Marni E; Doyle, Daniel; Dobyns, William B; Hudson, Cindy; Johnson, John; Tenconi, Romano; Graham, Gail E; Sousa, Ana Berta; Heller, Raoul; Piccione, Maria; Corsello, Giovanni; Herman, Gail E; Tartaglia, Marco; Lin, Angela E

    2011-04-01

    Costello syndrome is characterized by severe failure-to-thrive, short stature, cardiac abnormalities (heart defects, tachyarrhythmia, and hypertrophic cardiomyopathy (HCM)), distinctive facial features, a predisposition to papillomata and malignant tumors, postnatal cerebellar overgrowth resulting in Chiari 1 malformation, and cognitive disabilities. De novo germline mutations in the proto-oncogene HRAS cause Costello syndrome. Most mutations affect the glycine residues in position 12 or 13, and more than 80% of patients share p.G12S. To test the hypothesis that subtle genotype-phenotype differences exist, we report the first cohort comparison between 12 Costello syndrome individuals with p.G13C and individuals with p.G12S. The individuals with p.G13C had many typical findings including polyhydramnios, failure-to-thrive, HCM, macrocephaly with posterior fossa crowding, and developmental delay. Subjectively, their facial features were less coarse. Statistically significant differences included the absence of multifocal atrial tachycardia (P-value = 0.033), ulnar deviation of the wrist (P < 0.001) and papillomata (P = 0.003), and fewer neurosurgical procedures (P = 0.024). Fewer individuals with p.G13C had short stature (height below -2 SD) without use of growth hormone (P < 0.001). The noteworthy absence of malignant tumors did not reach statistical significance. Novel ectodermal findings were noted in individuals with p.G13C, including loose anagen hair resulting in easily pluckable hair with a matted appearance, different from the tight curls typical for most Costello syndrome individuals. Unusually long eye lashes requiring trimming are a novel finding we termed dolichocilia. These distinctive ectodermal findings suggest a cell type specific effect of this particular mutation. Additional patients are needed to validate these findings.

  14. Steven's Johnson syndrome with toxic epidermal necrolysis due to thalidomide in a case of multiple myeloma.

    Science.gov (United States)

    Das, Anupam; Sil, Amrita; Mishra, Vivek; Das, Nilay Kanti

    2014-01-01

    Thalidomide developed in 1954 for morning sickness had proven to be a teratogen and hence was withdrawn from market. Resurgence of thalidomide began as an immunomodulator when it was shown to be effective in the management of multiple myeloma and many conditions like erythema nodosum leprosum, graft versus host disease, recurrent aphthous ulcers etc. We report a case of Stevens Johnson syndrome-toxic epidermal necrolysis developing in an elderly male who was prescribed thalidomide after being diagnosed with multiple myeloma.

  15. Death due to fulminant neuroleptic malignant syndrome induced by low doses of haloperidol: a rare case.

    Science.gov (United States)

    Zou, Donghua; Shao, Yu; Qin, Zhiqiang; Zhang, Jianhua; Liu, Ningguo; Li, Zhengdong; Huang, Ping; Chen, Yijiu

    2014-05-01

    The paper reports on a rare case of fulminant neuroleptic malignant syndrome (NMS) with several risk factors, typical manifestation and rapid death induced by low doses of haloperidol. The pathological findings, pathogenesis, clinical manifestations, diagnostic criteria, risk factors and other features of NMS are discussed. The importance of forensic pathologists being aware of the possibility of NMS as the cause of death in people taking antipsychotic drugs is stressed.

  16. The role of nasal CPAP in obstructive sleep apnoea syndrome due to mandibular hypoplasia.

    LENUS (Irish Health Repository)

    Miller, Stanley D W

    2012-02-01

    Melnick Needles syndrome (MNS), Treacher Collins syndrome (TCS) and Pierre Robin syndrome (PRS) are congenital abnormalities with characteristic facial appearances that include micrognathia. A 20-year-old girl with MNS, a 16-year-old boy with TCS and a 12-year-old girl with PRS attended the sleep apnoea clinic at our institution at different times. Diagnostic sleep studies were initially performed on all three patients to confirm the diagnosis of obstructive sleep apnoea syndrome (OSAS). They subsequently commenced nasal CPAP (nCPAP) treatment and their progress was followed. A limited sleep study on the patient with MNS demonstrated moderate\\/severe OSAS with an AHI of 33 events\\/h. Commencement of nCPAP resulted in symptomatic improvement. Overnight oximetry in the patient with TCS showed repeated desaturation to SpO2<90%. Subsequent treatment by nCPAP almost completely abolished the desaturation events. Overnight polysomnography in the patient with PRS demonstrated severe OSAS with an AHI of 49 events\\/h. After 3 years of nCPAP therapy, this patient requested discontinuation of treatment. Subsequent polysomnography without nCPAP revealed an AHI of <5 events\\/h. The use of nCPAP in the patients with MNS and TCS resulted in effective control of their sleep abnormalities. Mandibular growth and enlargement of the posterior airway space led to resolution of OSAS in the patient with PRS. There is a definite role for nCPAP therapy in patients with congenital micrognathia and OSAS. The use of nCPAP may obviate the need for more invasive corrective surgery for OSAS and is not necessarily a life-long requirement.

  17. Unusual Presentation of Gianotti-Crosti Syndrome due to Epstein-Barr Virus Infection

    Directory of Open Access Journals (Sweden)

    Hind Saif Al Dhaheri

    2016-01-01

    Full Text Available Gianotti-Crosti syndrome (GCS is viral exanthema of childhood. It typically presents with a symmetric erythematous papular and papulovesicular eruption. It has been classically associated with hepatitis B virus, as well as rarely with Epstein-Barr virus (EBV. We report a case of GCS related to EBV infection without the classical systemic symptoms in a five-year-old male patient.

  18. Unusual Presentation of Gianotti-Crosti Syndrome due to Epstein-Barr Virus Infection

    Science.gov (United States)

    Al Dhaheri, Hind Saif; Al Kaabi, Amani; Kara Hamo, Yasmin

    2016-01-01

    Gianotti-Crosti syndrome (GCS) is viral exanthema of childhood. It typically presents with a symmetric erythematous papular and papulovesicular eruption. It has been classically associated with hepatitis B virus, as well as rarely with Epstein-Barr virus (EBV). We report a case of GCS related to EBV infection without the classical systemic symptoms in a five-year-old male patient. PMID:28050291

  19. Fatal respiratory distress syndrome due to coronavirus infection in a child with severe combined immunodeficiency.

    Science.gov (United States)

    Szczawinska-Poplonyk, Aleksandra; Jonczyk-Potoczna, Katarzyna; Breborowicz, Anna; Bartkowska-Sniatkowska, Alicja; Figlerowicz, Magdalena

    2013-09-01

    Coronaviruses have been demonstrated to contribute substantially to respiratory tract infections among the child population. Though infected children commonly present mild upper airway symptoms, in high-risk patients with underlying conditions, particularly in immunocompromised children these pathogens may lead to severe lung infection and extrapulmonary disorders. In this paper, we provide the first report of the case of a 15-month-old child with severe combined immunodeficiency and coronavirus HKU1-related pneumonia with fatal respiratory distress syndrome.

  20. Carnitine Profile and Effect of Suppletion in Children with Renal Fanconi Syndrome due to Cystinosis

    OpenAIRE

    Besouw, M.; Cornelissen, E.; Cassiman, D.; Kluijtmans, L.; L. van den Heuvel; Levtchenko, E

    2014-01-01

    Background: Cystinosis is an autosomal recessive disorder marked by intralysosomal cystine accumulation. Patients present with generalized proximal tubular dysfunction called renal Fanconi syndrome. Urinary carnitine loss results in plasma and muscle carnitine deficiency, but no clinical signs of carnitine deficiency have been described. Also, the optimal dose of carnitine supplementation is undefined. This study aimed to determine whether currently recommended carnitine doses result in adequ...

  1. Anterior canal BPPV and apogeotropic posterior canal BPPV: two rare forms of vertical canalolithiasis.

    Science.gov (United States)

    Califano, L; Salafia, F; Mazzone, S; Melillo, M G; Califano, M

    2014-06-01

    Posterior canal benign paroxysmal positional vertigo (BPPV) is the most frequent form of BPPV. It is characterized by a paroxysmal positioning nystagmus evoked through Dix-Hallpike and Semont positioning tests. Anterior canal BPPV (AC) is more rare than posterior canal BPPV; it presents a prevalent down beating positioning nystagmus, with a torsional component clockwise for the left canal, counterclockwise for the right canal. Due to the possible lack of the torsional component, it is sometimes difficult to identify the affected ear. An apogeotropic variant of posterior BPPV (APC) has recently been described, characterised by a paroxysmal positional nystagmus in the opposite direction to the one evoked in posterior canal BPPV: the linear component is down-beating, the torsional component is clockwise for the right canal, counter-clockwise for the left canal, so that a contra-lateral anterior canal BPPV could be simulated. During a 16 month period, of 934 BPPV patients observed, the authors identified 23 (2.5%) cases of apogeotropic posterior canal BPPV and 11 (1.2%) cases of anterior canal BPPV, diagnosed using the specific oculomotor patterns described in the literature. Anterior canal BPPV was treated with the repositioning manoeuvre proposed by Yacovino, which does not require identification of the affected side, whereas apogeotropic posterior canal BPPV was treated with the Quick Liberatory Rotation manoeuvre for the typical posterior canal BPPV, since in the Dix-Hallpike position otoliths are in the same position if they come either from the ampullary arm or from the non-ampullary arm. The direct resolution of BPPV (one step therapy) was obtained in 12/34 patients, 8/23 patients with APC and 4/11 patients with AC; canalar conversion into typical posterior canal BPPV, later treated through Quick Liberatory Rotation (two-step therapy), was obtained in 19 patients,14/23 with APC and 5/11 with AC. Three patients were lost to follow-up. Considering the effects of

  2. Progressive anterior operculum syndrome due to FTLD-TDP: a clinico-pathological investigation.

    Science.gov (United States)

    Otsuki, Mika; Nakagawa, Yoshitsugu; Mori, Fumiaki; Tobioka, Hirotoshi; Yoshida, Hideaki; Tatezawa, Yoshiharu; Tanigawa, Toshio; Takahashi, Ikuko; Yabe, Ichiro; Sasaki, Hidenao; Wakabayashi, Koichi

    2010-07-01

    Pathological investigation of progressive anterior operculum syndrome has rarely been reported. We describe clinico-pathological findings in a patient with progressive anterior operculum syndrome. A 74-year-old right-handed man had noticed speech and swallowing difficulties 1 year previously. Neurological examinations showed no abnormality other than a slight limitation of upward gaze and slow tongue movement without fibrillation. We investigated the patient using neuroimaging and neuropsychological examinations and observed him for 2 years until his death, at which point we obtained pathological findings. The patient's facial and masseteric muscles seemed hypotonic with drooling, but he could laugh and yawn normally, showing automatic voluntary dissociation. Palatal and pharyngeal reflexes were normal. Magnetic resonance imaging showed cortical atrophy in the temporal lobes bilaterally. (123)IMP single photon emission computed tomography and positron emission tomography showed decreased blood flow and activity in the frontotemporal lobes, predominantly on the left side. Neuropsychological examinations showed no aphasia, dementia or other neuropsychological abnormality. Intubation fiberscopy, laryngoscopy and video fluorography showed no abnormality. After 6 months his anarthria and dysphagia became aggravated. He died of aspiration pneumonia 2 years after onset. Postmortem examination revealed neuronal degeneration with TDP-43-positive inclusions in the frontal, temporal and insular cortices, consistent with frontotemporal lobar degeneration with TDP inclusions (FTLD-TDP). However, neuronal loss with gliosis was more prominent in the inferior part of the motor cortices, bilaterally. Progressive anterior operculum syndrome could be classified as a variant of FTLD-TDP.

  3. Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.

    Science.gov (United States)

    Paznekas, W A; Cunningham, M L; Howard, T D; Korf, B R; Lipson, M H; Grix, A W; Feingold, M; Goldberg, R; Borochowitz, Z; Aleck, K; Mulliken, J; Yin, M; Jabs, E W

    1998-06-01

    Thirty-two unrelated patients with features of Saethre-Chotzen syndrome, a common autosomal dominant condition of craniosynostosis and limb anomalies, were screened for mutations in TWIST, FGFR2, and FGFR3. Nine novel and three recurrent TWIST mutations were found in 12 families. Seven families were found to have the FGFR3 P250R mutation, and one individual was found to have an FGFR2 VV269-270 deletion. To date, our detection rate for TWIST or FGFR mutations is 68% in our Saethre-Chotzen syndrome patients, including our five patients elsewhere reported with TWIST mutations. More than 35 different TWIST mutations are now known in the literature. The most common phenotypic features, present in more than a third of our patients with TWIST mutations, are coronal synostosis, brachycephaly, low frontal hairline, facial asymmetry, ptosis, hypertelorism, broad great toes, and clinodactyly. Significant intra- and interfamilial phenotypic variability is present for either TWIST mutations or FGFR mutations. The overlap in clinical features and the presence, in the same genes, of mutations for more than one craniosynostotic condition-such as Saethre-Chotzen, Crouzon, and Pfeiffer syndromes-support the hypothesis that TWIST and FGFRs are components of the same molecular pathway involved in the modulation of craniofacial and limb development in humans.

  4. Common Carotid Artery Stump Syndrome Due to Mobile Thrombus Detected by Carotid Duplex Ultrasonography.

    Science.gov (United States)

    Omoto, Shusaku; Hasegawa, Yuki; Sakai, Kenichiro; Matsuno, Hiromasa; Arai, Ayumi; Terasawa, Yuka; Mitsumura, Hidetaka; Iguchi, Yasuyuki

    2016-10-01

    Carotid stump syndrome is a cause of recurrent embolic stroke following occlusion of the ipsilateral internal carotid artery. The present report describes a case of recurrent cerebral embolism ipsilateral to a chronically occluded left common carotid artery (CCA), i.e., "CCA stump syndrome." Doppler color flow imaging showed anterograde flow in the left internal and external carotid arteries, which were supplied by collateral flow from the superior thyroid artery inflowing just proximal to the left carotid bifurcation. According to carotid duplex ultrasonography (CDU), a low-echoic mobile thrombus was noted at the distal stump of the occluded CCA, which presumably caused distal embolism. The low-echoic mobile thrombus dramatically changed to a homogenously high-echoic thrombus, and there was no recurrence of stroke after antiplatelet and anticoagulant therapy. This is the first report to demonstrate a CDU-verified temporal change in the thrombus at the stump in CCA stump syndrome. CDU is a noninvasive and useful technique to characterize hemodynamics, thrombus morphology, and the response to therapy.

  5. Status spasticus and psoas muscle edema due to anti-GAD antibody associated stiff-man syndrome.

    Science.gov (United States)

    Maramattom, Boby Varkey

    2015-08-01

    Severe muscle rigidity and spasms are uncommon causes of Intensive Care Unit (ICU) admissions. Stiff-man syndrome (SMS) is a rare disorder characterized by continuous muscle spasms, axial muscle rigidity, "tin soldier gait," and continuous motor unit activity on electromyography. There are three clinical variants of SMS; stiff-limb syndrome, classical SMS, and paraneoplastic encephalomyelitis with rigidity and myoclonus. Three types of antibodies have been associated with SMS; however, anti-glutamic acid decarboxylase (GAD) antibodies are the most frequent and are seen in the idiopathic type of SMS. The spasms of SMS can be very disabling and severe enough to cause muscle ruptures and skeletal fractures. We present a case of anti-GAD positive SMS with "status spasticus" causing bilateral psoas myoedema and rhabdomyolysis due to repeated axial muscle jerking in a 64-year-old man and discuss the differential diagnosis of a "jerking patient in the ICU."

  6. [Mononeuritis multiplex due to thrombotic ischemia of primary antiphospholipid antibody syndrome without vasculitis: an autopsy case report].

    Science.gov (United States)

    Takahashi, Masatoshi; Katada, Fumiaki; Sato, Susumu; Shibayama, Hidehiro; Fukutake, Toshio; Murayama, Shigeo

    2015-01-01

    The patient was a 78-year-old man. Three years before admission, he developed transient peripheral neuropathy and purpura, and at admission, he presented with livedo reticularis of both his lower extremities and with mononeuritis multiplex. Vasculitis was not observed, and antiphospholipid antibodies were detected. The nerve and skin biopsies revealed no inflammation; axonal degeneration accompanied by thrombi was found in his arterioles and venules. Based on these findings, he was diagnosed with ischemic peripheral neuropathy due to primary antiphospholipid syndrome. Administration of anticoagulant therapy resulted in an improvement in symptoms; however, two months later, a relapse occurred, and the patient contracted an infection while undergoing immunosuppressive therapy. The infection became fulminant, and the patient succumbed to multiple organ failure. The autopsy revealed a systemic arterial and venous embolism; however, no vasculitis was observed. Antiphospholipid syndrome, which is responsive to antithrombotic treatment, should be considered as a differential diagnosis of mononeuritis multiplex.

  7. Syndrome of Inappropriate Secretion of Antidiuretic Hormone Cholestasis and Pericardial Effusion Due to Brucellosis Infection: A Case Report

    Directory of Open Access Journals (Sweden)

    Ahmet Cumhur Dülger

    2010-01-01

    Full Text Available Syndrome of inappropriate secretion of antidiuretic hormone (SIADH is an extremely rare complication of infectious diseases. A rare case of brucellosis complicated by syndrome of inappropriate secretion of antidiuretic hormone (SIADH cholestasis and pericardial involvement is reported. A 27-year-old woman was admitted for fever, abdominal pain, and scleral icterus. Her medical history revealed no recent use of diuretic agents. In addition to cholestasis and elevated liver enzymes, euvolemic hyponatremia, hypouricemia, low plasma osmolality, and high urinary osmolality were also detected. Surrenal and thyroid tests were also within normal range. Echocardiography revealed minimal pericardial effusion with normal cardiac functions. The final diagnosis was SIADH due to Brucellosis. Hyponatremia, cholestasis, and pericardial disease were resolved with effective antibrucellar treatment with streptomycine and doxycycline. After completing treatment of brucellosis, there was not any more evidence of cholestasis and pericardial fluid.

  8. Oral-facial-digital syndrome with mesoaxial polysyndactyly, common AV canal, hirschsprung disease and sacral dysgenesis: Probably a transitional type between II, VI, variant of type VI or a new type

    Directory of Open Access Journals (Sweden)

    Rabah M. Shawky

    2014-07-01

    Full Text Available We report a 4 month old male infant, the first in order of birth of healthy first cousin consanguineous parents who has many typical features of oral-facial-digital syndrome type VI (OFDS VI including hypertelorism, bilateral convergent squint, depressed nasal bridge, and wide upturned nares, low set posteriorly rotated ears, long philtrum, gum hyperplasia with notches of the alveolar borders, high arched palate, and hyperplastic oral frenula. He has mesoaxial and postaxial, polysyndactyly which is the specific feature of OFDS VI, however the cerebellum is normal on MRI brain. He has also some rare congenital anomalies including common atrioventricular canal, hirschsprung disease, and sacral dysgenesis. This patient may have a transitional type between II and VI, a variant of type VI or a new type.

  9. [Necrotizing fasciitis of the eyelids and toxic shock syndrome due to Streptococcus pyogenes].

    Science.gov (United States)

    Bustos B, Raúl; Soto G, Gonzalo; Hickmann O, Lilian; Torres B, Carlos

    2009-04-01

    Necrotizing fasciitis (NF) is a serious infection that compromises subcutaneous tissue, fascia, and adipose tissue, with high mortality rate and sequelae. Extremities, trunk and pelvis are the most common body sites affected. Periorbital celullitis with necrotizing fasciitis of the eyelid is rare. We report the case of a three years oíd child with bilateral NF of the eyelids and toxic shock syndrome secondary to Streptococcus pyogenes infection occurring after a minor skin trauma. Early recognition leading to intensive care treatment and prompt surgical debridement were critical in the favourable outcome of the child.

  10. Atypical presentation of autoimmune lymphoproliferative syndrome due to CASP10 mutation.

    Science.gov (United States)

    Tripodi, Serena Ilaria; Mazza, Cinzia; Moratto, Daniele; Ramenghi, Ugo; Caorsi, Roberta; Gattorno, Marco; Badolato, Raffaele

    2016-09-01

    Herein we describe the case of a 8-years-old boy with diagnosis of atypical autoimmune lymphoproliferative syndrome (ALPS), carrying heterozygous mutation of CASP10 gene (I406L). He presented with multiple non-invasive infections of the skin, that were associated to chronic non-malignant non-infectious lymphadenopathy, failure to thrive, weakness, arthralgia, relapsing oral aftosis, and expansion of TCRαβ(+) CD4(-)/CD8(-) T cells. This observation suggests that cutaneous infections can be observed in ALPS patients carrying CASP10 mutations.

  11. Watery diarrhea, hypokalemia and achlorhydria syndrome due to an adrenal pheochromocytoma

    Institute of Scientific and Technical Information of China (English)

    Shin-ichi Ikuta; Chiaki Yasui; Masahiro Kawanaka; Tsukasa Aihara; Hidenori Yoshie; Hidenori Yanagi; Masao Mitsunobu; Ayako Sugihara; Naoki Yamanaka

    2007-01-01

    Watery diarrhea, hypokalemia and achlorhydria (WDHA)syndrome caused by vasoactive intestinal polypeptide (VIP) -producing tumor only rarely occurs in patients with nonpancreatic disease. A 49-year-old woman was referred for evaluation of a right adrenal tumor incidentally diagnosed by abdominal ultrasound during the investigation of chronic watery diarrhea. Laboratory findings showed hypokalemia and excessive production of VIP and catecholamines. After surgical resection of the tumor, diarrhea subsided and both electrolytes and affected hormone levels normalized. Immunohistochemical examination confirmed a diagnosis of pheochromocytoma,which contained VIP-positive ganglion-like cells. We herein present the clinical and histogenetic implications of this rare clinical entity, with literature review.

  12. Thoracic Outlet Syndrome in a Volleyball Player Due to Nonunion of the First Rib Fracture.

    Science.gov (United States)

    Puttmann, Kathleen T; Satiani, Bhagwan; Vaccaro, Patrick

    2016-11-01

    Fracture of the first rib with ensuing callus formation is a rare cause of thoracic outlet syndrome. We report a case of a 17-year-old female volleyball player who presented with months of chronic arm pain. Radiographic imaging demonstrated nonunion fracture of the first rib. Physical therapy had been unsuccessful in relieving the pain, and surgical management was performed with resection of the first rib through a transaxillary approach with complete resolution of symptoms. Inflammation surrounding such fractures may destroy tissue planes, making dissection more technically difficult.

  13. The Dehiscent Facial Nerve Canal

    Directory of Open Access Journals (Sweden)

    Sertac Yetiser

    2012-01-01

    Full Text Available Accidental injury to the facial nerve where the bony canal defects are present may result with facial nerve dysfunction during otological surgery. Therefore, it is critical to know the incidence and the type of facial nerve dehiscences in the presence of normal development of the facial canal. The aim of this study is to review the site and the type of such bony defects in 144 patients operated for facial paralysis, myringoplasty, stapedotomy, middle ear exploration for sudden hearing loss, and so forth, other than chronic suppurative otitis media with or without cholesteatoma, middle ear tumors, and anomaly. Correlation of intraoperative findings with preoperative computerized tomography was also analyzed in 35 patients. Conclusively, one out of every 10 surgical cases may have dehiscence of the facial canal which has to be always borne in mind during surgical manipulation of the middle ear. Computerized tomography has some limitations to evaluate the dehiscent facial canal due to high false negative and positive rates.

  14. Myoclonic status and central fever in Angelman syndrome due to paternal uniparental disomy.

    Science.gov (United States)

    Nicita, Francesco; Garone, Giacomo; Papetti, Laura; Consoli, Federica; Magliozzi, Monia; De Luca, Alessandro; Spalice, Alberto

    2015-01-01

    Myoclonic status in nonprogressive encephalopathy (MSNE) is an early-onset, drug-resistant epileptic syndrome characterized by occurrence of continuous diffuse epileptiform abnormalities, associated with positive and/or negative phenomena and accompanied by transient and recurring motor, cognitive, and behavioral impairment. MSNE has been reported in Angelman syndrome (AS) secondary to 15q11-13 deletions or UBE3A mutations but not to paternal uniparental disomy (UPD). We describe the case of a male patient with AS caused by UPD who developed a myoclonic status (MS) associated with long-lasting fever of central origin, both promptly regressed with introduction of levetiracetam. Only three descriptions of thermal dysregulation in AS exist, and none of the previously reported cases were associated with MS or with UPD. Association of MS and central fever expands the spectrum of epileptic and non-epileptic features in UPD-related AS and provides a further evidence of hypothalamus involvement in the pathogenesis of this neurodevelopmental disorder.

  15. Burning Mouth Syndrome due to Television Moans, an Enigma for Oral Physician: Treatment with Counseling.

    Science.gov (United States)

    Gupta, Deepak; Sheikh, Soheyl; Pallagatti, Shambulingappa; Kasariya, Kartikaya; Buttan, Amit; Gupta, Maqul

    2014-01-01

    Burning mouth syndrome (BMS) is a relatively common disease that can severely affect the quality of life of the patient. It causes chronic orofacial pain or oral burning sensation even in the absence of any detectable organic cause. The etiology of BMS is complex and multifactorial. It has been associated with menopause, trigger events and even genetic polymorphisms. Although its etiology remains unclear, there is still much evidence that psychological elements like stress, anxiety or depression do play a significant role. There are several studies in the literature which only report the association of BMS with psychological factors. But to the best of our knowledge, there is no such case reported in the literature which has actually highlighted the management of such a case with psychogenic elements involved. In this case report, apart from discussing the role of psychological factors, the treatment of BMS with emphasis on counseling is also emphasized. Further, it is of interest to know that such patients with psychologically induced burning mouth syndrome have to be evaluated to their deepest details. Even their commonly overlooked gestures and habits like watching a particular television soap opera may be involved in their disease process. It can be concluded that psychological counseling in general dental practice can provide an effective cure for chronic oral burning sensation with psychological factors involved.

  16. Superior Mesenteric Artery Syndrome due to a Vertebral Hemangioma and Postpartum Osteoporosis following Treatment

    Directory of Open Access Journals (Sweden)

    Mehmet Elmadag

    2015-01-01

    Full Text Available In pregnancy, advanced vertebral hemangiomas may be seen, and these require treatment. The case reported here is of a 35-year-old female in the 32nd week of pregnancy who was admitted to the orthopaedics clinic with a history of backache and difficulty walking. A burst fracture of L1 associated with a vertebral hemangioma was identified with an L3 compression fracture secondary to osteoporosis. The local kyphosis angle between T12 and L2 was 27°. Kyphotic deformity was corrected and postoperatively, the measured T12–L2 local kyphotic angle was 9°. Twelve hours postoperatively, oral nutrition was allowed, but she developed nausea and vomiting and twenty-four hours postoperatively, an electrolyte imbalance developed. Postoperatively, the patient was diagnosed with superior mesenteric artery syndrome. To the best of our knowledge, this is the first reported case of superior mesenteric artery syndrome, which occurred following the correction of a kyphotic deformity that had developed secondary to an advanced hemangioma in pregnancy.

  17. Electroacupuncture Treatment for Constipation Due to Spasmodic Syndrome of the Pelvic Floor- A Report of 36 Cases

    Institute of Scientific and Technical Information of China (English)

    2001-01-01

    @@Thirty-six cases of constipation due to spasmodic syndrome of the pelvic floor were treated by electroacupuncture, with satisfactory therapeutic results reported as follows. Clinical Data There were 36 cases in this series, 12 males and 24 females, ranging in age from 25 to 76 years, averaging 42 years. The course of disease ranged from 6 months to 22 years, with an average of 6 years. All the 36 cases were previously treated by purgative and emollient cathartic for promoting the bowl movement.

  18. Respiratory syndrome very similar to extrinsic allergic alveolitis due to Penicillium verrucosum in workers in a cheese factory.

    Science.gov (United States)

    Guglielminetti, M; Valoti, E; Cassini, P; Taino, G; Caretta, G

    2001-01-01

    A respiratory syndrome very similar to extrinsic allergic alveolitis due to Penicillium verrucosum was recognized in 4 workers employed in a Gorgonzola cheese factory. A mycogen allergy to P. verrucosum, used as starter in the production, was demonstrated by positive sputum culture and detection of specific antibodies in the blood. Intense and prolonged exposure to inhalation of fungal spores could have lead to the development of this allergic response. The fact that 2 of the subjects are siblings seems to indicate host susceptibility or immunological constitution in the pathogenesis of the respiratory allergy.

  19. Recurrent neuroleptic malignant syndrome due to tiapride and haloperidol: the possible role of D-2 dopamine receptors.

    Science.gov (United States)

    Hermesh, H; Huberman, M; Radvan, H; Kott, E

    1984-11-01

    Two typical recurrent episodes of neuroleptic malignant syndrome (NMS) in the same patient are described. The first episode was caused by a sulpiride derivative, tiapride. This is the first case in which a drug of the benzamide group has been reported to have caused such adverse drug reaction. In the second episode, NMS occurred due to haloperidol in the lowest dose ever reported and was accompanied by highly excessive levels of various muscle enzymes. Involvement of hypothalamic and striatal dopamine system, and particularly of D-2 subtype receptors, is suggested by this case.

  20. [Case report: Löffler's syndrome due to Ascaris lumbricoides mimicking acute bacterial community--acquired pneumonia].

    Science.gov (United States)

    Acar, Ali; Oncül, Oral; Cavuşlu, Saban; Okutan, Oğuzhan; Kartaloğlu, Zafer

    2009-01-01

    In this study we present a patient with Loeffler's syndrome caused by Ascaris lumbricoides who presented with the clinical findings of community-acquired pneumonia (CAP). Our patient, who was twenty-five years old, and who had had symptoms such as coughing, expectorating, dyspnea and fever for approximately ten days, was hospitalized. We auscultated polyphonic rhonchuses at the both hemithoraxes. A chest X-ray revealed bilateral lower zone patch consolidation. Acute bacterial community acquired pneumonia (CAP) was diagnosed due to these findings and empirical antibiotic treatment was begun. Repeated sputum Gram stains were negative, and both sputum and blood cultures were sterile. A sputum smear was negative for acid-fast bacilli. The patient's fever and respiratory complaint did not respond to the empirical antibiotics therapy. During the course of advanced investigations, we measured peripheric eosinophilia, and high levels of total Eo and total IgE, and observed Ascaris lumbricoides eggs during stool examination. The patient was given a diagnosis of Loeffler's syndrome. Thereupon the patient was treated successfully with one dose of albendazol 400 mg. In conclusion, we suggest that Loeffler's syndrome must be considered early in the differential diagnosis for CAP when peripheric eosinophilia is seen in patients if they live in an endemic area for parasitic disease.

  1. RENOVASCULAR HYPERTENSION DUE TO RENAL ARTERY STENOSIS IN KLIPPEL-FEIL SYNDROME

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    Foyaca-Sibat H. MD.

    2003-01-01

    Full Text Available ABSTRACT We report one patient with Klippel-Feil (KFS syndrome, other associated anomalies, uncontrolled arterial hypertension, and renal artery stenosis. Because this patient underwent for surgical revascularization with unsuccessful result, all proposed way of treatments are revised, and we have hypothesized that probably for patients with KFS and unilateral renal artery stenosis, medical treatment with ACE inhibitors can provide more benefits than surgical revascularization or percutaneous transluminal angioplasty. We considered that those patients should be manage by a team of medical doctors being aware of their common associated anomalies, identifying all of them when it is possible then, making an integral evaluation of the each individual situation for establishing their medical priorities in order, and then address its treatments accordingly. If at this stage any surgical treatment is required, is important to bring those problems to the anesthesiologist’s attention for a very careful manipulation of the neck and head during induction of anesthesia. The final results will be strongly related with the capacity of management of the underlying cardio-respiratory, renal, skeletal, urogenital, and nervous system problems. . We also propose the term of Klippel-Feil syndrome "Plus" for those patients with cervical vertebral fusion and many other associated deformities rather than to add new eponyms to the long list that already exist. _____________ RESUMEN: HIPERTENSION RENOVASCULAR DEBIDO A ESTENOSIS DE LA ARTERIA RENAL EN EL SÍNDROME DE KLIPPEL-FEIL Reportamos un paciente afectado por un syndrome de Klippel-Feil, otras anormalias congenitas, hipertension arterial incontrolada y una estenosis unilateral de la arteria renal. Este paciente fue sometido a un tratamiento quirÚrgico de la estenosis de la arteria renal, cuyos resultados fueron no satisfactorios por lo que revisamos todas las alternativas de tratamiento para la estenosis

  2. Posterior reversible encephalopathy syndrome with PLEDs-plus due to mesalamine

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    Ajith Cherian

    2014-01-01

    Full Text Available A 32-year-old lady developed status epilepticus and acute visual loss while on mesalamine for Crohn′s disease. Her clinical course and magnetic resonance imaging (MRI were suggestive of posterior reversible encephalopathy syndrome (PRES. She had periodic lateralized epileptiform discharges plus (PLEDs-plus on electroencephalogram (EEG, which responded to sodium valproate. Her vision improved from counting fingers at one-meter distance to 6/12. Though different cytotoxic drugs have been implicated as causative agents, this is the first case report of mesalamine-induced PRES. This case highlights the need for aggressive treatment of PLEDs-plus with EEG monitoring using a broad-spectrum antiepileptic drug like valproate, which has contributed to the rapid reversibility of vision in PRES subjects, and the need for a thorough drug history for etiological clues.

  3. Subarachnoid hemorrhage due to ruptured intracranial aneurysm following posterior reversible encephalopathy syndrome

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    Takamasa Nanba

    2016-01-01

    Full Text Available Although posterior reversible encephalopathy syndrome (PRES is rarely associated with subarachnoid hemorrhage, to our knowledge, rupture of a concomitant cerebral aneurysm following PRES has not been reported. We describe a patient with atypical PRES involving the brainstem, thalamus, and periventricular white matter without cortical or subcortical edema of the parietooccipital lobe on magnetic resonance imaging, with rupture of a concomitant cerebral aneurysm. Preexisting extremely high blood pressure may trigger atypical PRES, and failure to lower blood pressure may lead to a concomitant aneurysm rupture. In the future treatment of hypertensive urgency with a recurrence of symptoms and mean arterial blood pressure >150 mmHg, it is advisable to immediately hospitalize the patient for aggressive blood pressure management, especially if PRES is suspected based on clinical and radiological features.

  4. Cerebral fat embolism syndrome after long bone fracture due to gunshot injury

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    Latif Duran

    2014-01-01

    Full Text Available Cerebral fat embolism syndrome is a lethal complication of long-bone fractures and clinically manifasted with respiratory distress, altered mental status, and petechial rash. We presented a 20-year-old male admitted with gun-shot wounds to his left leg. Twenty-four hours after the event, he had generalized tonic clonic seizures, decorticate posture and a Glascow Coma Scale of seven with localization of painful stimuli. Subsequent magnetic resonance imaging of the brain showed a star-field pattern defining multiple lesions of restricted diffusion. On a 4-week follow-up, he had returned to normal neurological function. Despite the severity of the neurological condition upon initial presentation, the case cerebral fat embolism illustrates that, cerebral dysfunction associated with cerebral fat embolism illustrates reversible.

  5. MERRF/MELAS overlap syndrome due to the m.3291T>C mutation.

    Science.gov (United States)

    Liu, Kaiming; Zhao, Hui; Ji, Kunqian; Yan, Chuanzhu

    2014-03-01

    We report the case of a 19-year-old Chinese female harboring the m.3291T>C mutation in the MT-TL1 gene encoding the mitochondrial transfer RNA for leucine. She presented with a complex phenotype characterized by progressive cerebellar ataxia, frequent myoclonus seizures, recurrent stroke-like episodes, migraine-like headaches with nausea and vomiting, and elevated resting lactate blood level. It is known that the myoclonus epilepsy with ragged-red fibers (MERRF) is characterized by cerebellar ataxia and myoclonus epilepsy, while that the mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is characterized by recurrent stroke-like episodes, migraine-like headaches, and elevated resting lactate blood level. So the patient's clinical manifestations suggest the presence of a MERRF/MELAS overlap syndrome. Muscle biopsy of the patient showed the presence of numerous scattered ragged-red fibers, some cytochrome c oxidase-deficient fibers, and several strongly succinate dehygrogenase-reactive vessels, suggestive of a mitochondrial disorder. Direct sequencing of the complete mitochondrial genome of the proband revealed no mutations other than the T-to-C transition at nucleotide position 3291. Restriction fragment length polymorphism analysis of the proband and her family revealed maternal inheritance of the mutation in a heteroplasmic manner. The analysis of aerobic respiration and glycolysis demonstrated that the fibroblasts from the patient had mitochondrial dysfunction. Our results suggest that the m.3291T>C is pathogenic. This study is the first to describe the m.3291T>C mutation in association with the MERRF/MELAS overlap syndrome.

  6. CT and MR Imagings of Semicircular Canal Aplasia

    Energy Technology Data Exchange (ETDEWEB)

    Shin, Chung Hee; Hong, Hyun Sook; Yi, Beom Ha; Cha, Jang Gyu; Park, Seong Jin; Kim, Dae Ho; Lee, Hae Kyung; Kim, Shi Chan [Soonchunhyang University Bucheon Hospital, Bucheon (Korea, Republic of)

    2009-07-15

    To evaluate the clinical, CT and MR imaging findings of semicircular canal (SCC) aplasia and to evaluate if a correlation exists between these findings and the associated anomalies or syndromes. This study retrospectively reviewed the CT and MRI findings of five patients with SCC aplasia. The CT and MR findings were analyzed for SCC, direction of facial nerve canal, cochlea, vestibule, oval or round window, middle ear ossicles, and internal auditory canal (IAC). The subjects included three boys and two girls ranging in age from one to 120 months (mean age; 51 months). Four of the subjects had the CHARGE syndrome, and one had the Goldenhar syndrome. Moreover, four subjects had sensorineural hearing loss and one had combined hearing loss. The course of the facial nerve canal was abnormal in all five cases. Moreover, trapped cochlea and dysplastic modiolus were each observed in one case. Four subjects had atresia of the oval window; whereas ankylosis of the ossicles was present in three subjects. IAC stenosis was present in one patient with the CHARGE syndrome. The aberrant course of the facial nerve canal, atresia of the oval window, and abnormal ossicles were frequently associated in patients with SCC aplasia. In addition, the Goldenhar and CHARGE syndromes were also commonly associated syndromes.

  7. A novel congenital myasthenic syndrome due to decreased acetylcholine receptor ion-channel conductance.

    Science.gov (United States)

    Webster, Richard; Maxwell, Susan; Spearman, Hayley; Tai, Kaihsu; Beckstein, Oliver; Sansom, Mark; Beeson, David

    2012-04-01

    Muscle acetylcholine receptor ion channels mediate neurotransmission by depolarizing the postsynaptic membrane at the neuromuscular junction. Inherited disorders of neuromuscular transmission, termed congenital myasthenic syndromes, are commonly caused by mutations in genes encoding the five subunits of the acetylcholine receptor that severely reduce endplate acetylcholine receptor numbers and/or cause kinetic abnormalities of acetylcholine receptor function. We tracked the cause of the myasthenic disorder in a female with onset of first symptoms at birth, who displayed mildly progressive bulbar, respiratory and generalized limb weakness with ptosis and ophthalmoplegia. Direct DNA sequencing revealed heteroallelic mutations in exon 8 of the acetylcholine receptor ε-subunit gene. Two alleles were identified: one with the missense substitution p.εP282R, and the second with a deletion, c.798_800delCTT, which result in the loss of a single amino acid, residue F266, within the M2 transmembrane domain. When these acetylcholine receptor mutations were expressed in HEK 293 cells, the p.εP282R mutation caused severely reduced expression on the cell surface, whereas p.εΔF266 gave robust surface expression. Single-channel analysis for p.εΔF266 acetylcholine receptor channels showed the longest burst duration population was not different from wild-type acetylcholine receptor (4.39 ± 0.6 ms versus 4.68 ± 0.7 ms, n = 5 each) but that the amplitude of channel openings was reduced. Channel amplitudes at different holding potentials showed that single-channel conductance was significantly reduced in p.εΔF266 acetylcholine receptor channels (42.7 ± 1.4 pS, n = 8, compared with 70.9 ± 1.6 pS for wild-type, n = 6). Although a phenylalanine residue at this position within M2 is conserved throughout ligand-gated excitatory cys-loop channel subunits, deletion of equivalent residues in the other subunits of muscle acetylcholine receptor did not

  8. Acute respiratory distress syndrome due to vivax malaria: case report and literature review

    Directory of Open Access Journals (Sweden)

    André V. Lomar

    2005-10-01

    Full Text Available Severe pulmonary involvement in malaria has been frequently reported in cases of Plasmodium falciparum infection, but rarely in vivax malaria. Among the 11 previous cases of vivax-related severe respiratory involvement described in the literature, all except one developed it after the beginning of anti-malarial treatment; these appear to correspond to an exacerbation of the inflammatory response. We report the case of a 43-year-old Brazilian woman living in a malaria-endemic area, who presented acute respiratory distress syndrome (ARDS caused by P. vivax before starting anti-malarial treatment. The diagnosis was made based on microscopic methods. A negative rapid immunochromatographic assay, based on the detection of Histidine Rich Protein-2 (HRP-2 of P. falciparum, indicated that falciparum malaria was unlikely. After specific anti-plasmodial therapy and intensive supportive care, the patient was discharged from the hospital. We conclude that vivax malaria-associated ARDS can develop before anti-malarial therapy.

  9. Acute renal failure due to abdominal compartment syndrome: report on four cases and literature review

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    Cleva Roberto de

    2001-01-01

    Full Text Available We report on 4 cases of abdominal compartment syndrome complicated by acute renal failure that were promptly reversed by different abdominal decompression methods. Case 1: A 57-year-old obese woman in the post-operative period after giant incisional hernia correction with an intra-abdominal pressure of 24 mm Hg. She was sedated and curarized, and the intra-abdominal pressure fell to 15 mm Hg. Case 2: A 73-year-old woman with acute inflammatory abdomen was undergoing exploratory laparotomy when a hypertensive pneumoperitoneum was noticed. During the surgery, enhancement of urinary output was observed. Case 3: An 18-year-old man who underwent hepatectomy and developed coagulopathy and hepatic bleeding that required abdominal packing, developed oliguria with a transvesical intra-abdominal pressure of 22 mm Hg. During reoperation, the compresses were removed with a prompt improvement in urinary flow. Case 4: A 46-year-old man with hepatic cirrhosis was admitted after incisional hernia repair with intra-abdominal pressure of 16 mm Hg. After paracentesis, the intra-abdominal pressure fell to 11 mm Hg.

  10. Is Disturbed Transfer of Learning in Callosal Agenesis due to a Disconnection Syndrome?

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    T. Imamura

    1994-01-01

    Full Text Available Disturbed intermanual transfer of tactile learning in callosal agenesis has been interpreted as a sign of disconnection syndrome. We observed this sign in one of four acallosal patients with a conventional form-board task, and tried to elucidate the nature of the deficit. The form-board performance of the patient with disturbed transfer of learning totally depended on motor skill, while the other acallosals and normal controls executed the task based on spatial and somesthetic information. All acallosals and normals, however, failed to show transfer of learning with another tactile task which needed motor skill but not spatial-somesthetic information. These findings suggest that the task-performing strategies in form-board learning change the state of interhemispheric transfer. Unimanual learning effect is transferred if spatial-somesthetic information is acquired in the process of learning, but is not transferred if motor skill is the exclusive content of learning. We conclude that disturbed “transfer” of learning in some acallosals is not a true disconnection sign. It should be attributed to a lack of appropriate strategy, as a result of ineffective problem solving in tactile tasks.

  11. First Reported Case of Reactive Airway Dysfunction Syndrome in a Laborer Due to Porcelain Tile Dust

    Directory of Open Access Journals (Sweden)

    Tasleem Arif

    2013-06-01

    Full Text Available Reactive airway dysfunction syndrome (RADS is a type of non-immunologically mediated asthma-like disease. It usually occurs after a massive exposure to an irritating substance in the atmosphere in the form of smoke, fumes, gases, and vapor. Unlike bronchial asthma, there is no latency to the symptoms seen in RADS. A number of agents are known to cause RADS, but tile dust, as an etiological agent, has not been previously reported. We report a 45-year-old male laborer, who presented with an acute onset of cough, chest tightness, breathlessness, and audible wheeze after his first time exposure to porcelain tile dust within 5 hours of exposure. Lab tests, including, chest X-ray, electrocardiogram, air blood gas analysis, and serum IgE, were unremarkable. Spirometry showed a mild obstruction [forced expiratory volume in 1 second (FEV1=72% of predicted], while the bronchodilator reversibility test was significant(14% increase in FEV1 above the baseline.Bronchial biopsy revealed a chronic inflammatory reaction with lymphocytic and plasma cell infiltration and more importantly a striking absence of eosinophils. To the best of our knowledge, this is the first reported case of RADS as a result of exposure to tile dust (porcelain ceramics.

  12. Stevens-Johnson Syndrome and toxic epidermal necrolysis overlap due to oral temozolomide and cranial radiotherapy.

    Science.gov (United States)

    Sarma, Nilendu

    2009-01-01

    A 46-year-old man developed Stevens-Johnson syndrome and toxic epidermal necrolysis overlap, with severe localized denudation of the skin on the head and neck, following radiotherapy and oral temozolomide therapy for cranial glioblastoma multiforme. He also had a primary malignant fibrous histiocytoma of the thigh that was amputated 5 years earlier. A rash developed after 7 days of radio- and chemotherapy. It was an extensive maculopapular rash that started over the temporal area of the head and rapidly spread, sparing only the distal limbs. Radiotherapy and temozolomide were stopped on the tenth day but the rash rapidly progressed for the next 4-6 days. Following this, the spread halted and complete recovery was observed within the next 2 weeks. The peculiarity of the presentation in this case was that the brunt of the disease with severe skin denudation was localized to the surrounding areas of cranial radiotherapy. The patient was also receiving oral phenytoin, diclofenac, and parenteral dexamethasone before chemotherapy was started. These medications were continued, even after development of the skin rash, until well after full recovery from the skin lesions. After critical evaluation of disease onset, progression, and recovery, and their relationship to the introduction and withdrawal of different medicines, it appeared that either temozolomide alone or in combination with radiotherapy most probably triggered the condition.

  13. The Root Canal Biofilm

    NARCIS (Netherlands)

    Sluis, van der L.W.M.; Boutsioukis, C.; Jiang, L.M.; Macedo, R.; Verhaagen, B.; Versluis, M.; Chávez de Paz, E.; Sedgley, C.M.; Kishen, A.

    2015-01-01

    The aims of root canal irrigation are the chemical dissolution or disruption and the mechanical detachment of pulp tissue, dentin debris and smear layer (instrumentation products), microorganisms (planktonic or biofilm), and their products from the root canal wall, their removal out of the root cana

  14. Root canal irrigation

    NARCIS (Netherlands)

    L. van der Sluis; C. Boutsioukis; L.M. Jiang; R. Macedo; B. Verhaagen; M. Versluis

    2015-01-01

    The aims of root canal irrigation are the chemical dissolution or disruption and the mechanical detachment of pulp tissue, dentin debris and smear layer (instrumentation products), microorganisms (planktonic or biofilm), and their products from the root canal wall, their removal out of the root cana

  15. Nephrotic syndrome due to minimal change disease secondary to spider bite: clinico-pathological case of a non-described complication of latrodectism.

    Science.gov (United States)

    Méndez, Gonzalo P; Enos, Daniel; Moreira, José Luis; Alvaredo, Fátima; Oddó, David

    2017-04-01

    The patient was an 18-year-old man who developed nephrotic syndrome after a 'wheat spider' bite (Latrodectus mactans). Due to this atypical manifestation of latrodectism, a renal biopsy was performed showing minimal change disease. The nephrotic syndrome subsided after 1 week without specific treatment. This self-limited evolution suggests that the mechanism of podocyte damage was temporary and potentially mediated by a secondary mechanism of hypersensitivity or direct effect of the α-latrotoxin. The patient did not show signs of relapse in subsequent checkup. This is the first reported case of nephrotic syndrome due to a minimal change lesion secondary to latrodectism.

  16. Three root canals in the maxillary second premolar

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    de Almeida-Gomes Fabio

    2009-01-01

    Full Text Available In this study, we report an endodontic treatment of the maxillary second premolar with three root canals and distinct foramens. The possibility of three root canals in this tooth is quite small; however, it must be taken into account in clinical and radiographic evaluation during endodontic treatment. Many times, their presence is noticed only after canal treatment due to continuing post-operative discomfort.

  17. Conus medullaris syndrome due to an intradural disc herniation: A case report

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    Chaudhary Kshitij

    2008-01-01

    Full Text Available A 70-year-old male patient developed acute paraplegia due to conus medullaris compression secondary to extrusion of D12-L1 disc. After negative epidural examination intraoperatively, a durotomy was performed and an intradural disc fragment was excised. Patient did not regain ambulatory status at two-year follow-up. Intraoperative finding of negative extradural compression, tense swollen dura and CSF leak from ventral dura should alert the surgeon for the possibility of intradural disc herniation. A routine preoperative MRI is misleading and a high index of suspicion helps to avoid a missed diagnosis.

  18. Evidence Report: Risk of Acute Radiation Syndromes Due to Solar Particle Events

    Science.gov (United States)

    Carnell, Lisa; Blattnig, Steve; Hu, Shaowen; Huff, Janice; Kim, Myung-Hee; Norman, Ryan; Patel, Zarana; Simonsen, Lisa; Wu, Honglu

    2016-01-01

    Crew health and performance may be impacted by a major solar particle event (SPE), multiple SPEs, or the cumulative effect of galactic cosmic rays (GCR) and SPEs. Beyond low-Earth orbit, the protection of the Earth's magnetosphere is no longer available, such that increased shielding and protective mechanisms are necessary in order to prevent acute radiation sickness and impacts to mission success or crew survival. While operational monitoring and shielding are expected to minimize radiation exposures, there are EVA scenarios outside of low-Earth orbit where the risk of prodromal effects, including nausea, vomiting, anorexia, and fatigue, as well as skin injury and depletion of the blood-forming organs (BFO), may occur. There is a reasonable concern that a compromised immune system due to high skin doses from a SPE or due to synergistic space flight factors (e.g., microgravity) may lead to increased risk to the BFO. The primary data available at present are derived from analyses of medical patients and persons accidentally exposed to acute, high doses of low-linear energy transfer (LET) (or terrestrial) radiation. Data more specific to the space flight environment must be compiled to quantify the magnitude of increase of this risk and to develop appropriate protection strategies. In particular, information addressing the distinct differences between solar proton exposures and terrestrial exposure scenarios, including radiation quality, dose-rate effects, and non-uniform dose distributions, is required for accurate risk estimation.

  19. The Role of Inspiratory Muscle Training in Sickle Cell Anemia Related Pulmonary Damage due to Recurrent Acute Chest Syndrome Attacks

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    Burcu Camcıoğlu

    2015-01-01

    Full Text Available Background. The sickling of red blood cells causes a constellation of musculoskeletal, cardiovascular, and pulmonary manifestations. A 32-year-old gentleman with sickle cell anemia (SCA had been suffering from recurrent acute chest syndrome (ACS. Aim. To examine the effects of inspiratory muscle training (IMT on pulmonary functions, respiratory and peripheral muscle strength, functional exercise capacity, and quality of life in this patient with SCA. Methods. Functional exercise capacity was evaluated using six-minute walk test, respiratory muscle strength using mouth pressure device, hand grip strength using hand-held dynamometer, pain using Visual Analogue Scale, fatigue using Fatigue Severity Scale, dyspnea using Modified Medical Research Council Scale, and health related quality of life using European Organization for Research and Treatment of Cancer QOL measurement. Results. A significant improvement has been demonstrated in respiratory muscle strength, functional exercise capacity, pain, fatigue, dyspnea, and quality of life. There was no admission to emergency department due to acute chest syndrome in the following 12 months after commencing regular erythrocytapheresis. Conclusion. This is the first report demonstrating the beneficial effects of inspiratory muscle training on functional exercise capacity, respiratory muscle strength, pain, fatigue, dyspnea, and quality of life in a patient with recurrent ACS.

  20. Cardiac tamponade due to low-volume effusive constrictive pericarditis in a patient with uncontrolled type II autoimmune polyglandular syndrome.

    Science.gov (United States)

    Palmer, William C; Kurklinsky, Andrew; Lane, Gary; Ussavarungsi, Kamonpun; Blackshear, Joseph L

    2014-03-01

    Type II autoimmune polyglandular syndrome (APS), a relatively common endocrine disorder, includes primary adrenal insufficiency coupled with type 1 diabetes mellitus and/or autoimmune primary hypothyroidism. Autoimmune serositis, an associated disease, may present as symptomatic pericardial effusion. We present a case of a 54-year old male with APS who developed pericarditis leading to cardiac tamponade with a subacute loculated effusion. After urgent pericardiocentesis intrapericardial pressure dropped to 0, while central venous pressures remain elevated, consistent with acute effusive constrictive pericarditis. Contrast computerized tomography confirmed increased pericardial contrast enhancement. The patient recovered after prolonged inotropic support and glucocorticoid administration. He re-accumulated the effusion 16 days later, requiring repeat pericardiocentesis. Effusive-constrictive pericarditis, an uncommon pericardial syndrome, is characterized by simultaneous pericardial inflammation and tamponade. Prior cases of APS associated with cardiac tamponade despite low volumes of effusion have been reported, albeit without good demonstration of hemodynamic findings. We report a case of APS with recurrent pericardial effusion due to pericarditis and marked hypotension with comprehensive clinical and hemodynamic assessment. These patients may require aggressive support with pericardiocentesis, inotropes, and hormone replacement therapy. They should be followed closely for recurrent tamponade.

  1. Therapeutic approach to "downhill" esophageal varices bleeding due to superior vena cava syndrome in Behcet's disease: a case report

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    Haghighi Mahshid

    2006-12-01

    Full Text Available Abstract Background One of the rare presentations of superior vena cava syndrome is bleeding of "downhill" esophageal varices (DEV and different approaches have been used to control it. This is a case report whose DEV was eradicated by band ligation for the first time. Case presentation We report a 42-year-old man who is a known case of Behcet's disease. The patient's first presentation was superior vena cava syndrome due to thrombosis followed by bipolar ulcers and arthralgia. He received warfarin, prednisolone and azathioprine. The clinical course of the patient was complicated by one episode of hematemesis without abdominal pain when the patient's PT was in therapeutic range. After resuscitation and correction of PT with fresh frozen plasma transfusion, upper gastrointestinal endoscopy was done. Prominent varices were seen in the upper third of the esophagus, tapering to the middle part without acute bleeding. Stomach and duodenum were normal. Color ultrasonography evaluation of the portal, hepatic and splenic veins was negative for thrombosis. Band ligation was done and the patient's bleeding did not recur. Conclusion Band ligation is a safe and effective method for controlling DEV bleeding in patients with uncorrectable underlying disorders.

  2. Medical image of the week: abdominal compartment syndrome due to massive upper gastrointestinal hemorrhage

    Directory of Open Access Journals (Sweden)

    Truong VN

    2014-11-01

    Full Text Available No abstract available. Article truncated after 150 words. A 29 year old woman with history of a Whipple procedure for pancreatic cancer and nonalcoholic steatohepatitis cirrhosis presented with a massive upper gastrointestinal bleeding (UGIB likely from esophageal varices and developed hemorrhagic shock. Emergent upper endoscopy could not be performed due to hemodynamic instability. Therefore, a Minnesota Tube was placed emergently for balloon tamponade of the bleeding. A transjugular intrahepatic portosystemic shunt was also placed emergently to decrease bleeding by reducing portal pressure. By this time, the patient had received 4 liters of normal saline, 14 units of packed red blood cells, 6 units of platelets, and 4 units of fresh frozen plasma. The Minnesota tube did control the bleeding somewhat, however, there was continued bloody drainage from the stomach port of the Minnesota tube. The patient’s abdomen became remarkably distended and was dull to percussion throughout. A CT scan of the abdomen and pelvis revealed severe dilatation of ...

  3. Design of canals

    CERN Document Server

    Swamee, P K

    2015-01-01

    The book presents firsthand material from the authors on design of hydraulic canals. The book discusses elements of design based on principles of hydraulic flow through canals. It covers optimization of design based on usage requirements and economic constraints. The book includes explicit design equations and design procedures along with design examples for varied cases. With its comprehensive coverage of the principles of hydraulic canal design, this book will prove useful to students, researchers, and practicing engineers. End-of-chapter pedagogical elements make it ideal for use in graduate courses on hydraulic structures offered by most civil engineering departments across the world.

  4. [Nitric oxide inhalation as an effective therapy for acute respiratory distress syndrome due to near-drowning: a case report].

    Science.gov (United States)

    Takano, Y; Hirosako, S; Yamaguchi, T; Saita, N; Suga, M; Kukita, I; Okamoto, K; Ando, M

    1999-12-01

    A 16-year-old boy with acute respiratory distress syndrome (ARDS) due to near-drowning was admitted to our hospital. ARDS was treated with low-level nitric oxide (NO) inhalation (ranging from 4 ppm to 1 ppm) for 24 days. Oxygenation was improved and pulmonary hypertension was reduced after NO inhalation, but systemic blood pressure, heart rate, and cardiac output were not affected. PaO2 improved from 153 Torr to 354 Torr under identical ventilating conditions (F1O2 1.0), and mean pulmonary arterial pressure fell from 40 mm Hg to 27 mmHg. It has been reported that NO inhalation alleviates ventilation-flow mismatch and pulmonary hypertension. It is unclear, however, whether this therapy improves the prognosis for ARDS. In our patient, NO inhalation was effective in alleviating the oxygenation impairment and pulmonary hypertension associated with ARDS.

  5. Estudo neurofisiológico na síndrome miastênica congênita do canal lento: relato de caso Neurophysiological study in slow-channel congenital myasthenic syndrome: case report

    Directory of Open Access Journals (Sweden)

    Paulo José Lorenzoni

    2006-06-01

    Full Text Available A síndrome do canal lento é uma das síndromes miastênicas congênitas atribuída a desordem dinâmica do canal iônico do receptor de acetilcolina da junção neuromuscular. Descrevemos o caso de um homem de 25 anos com progressiva ptose palpebral e limitação da movimentação ocular desde infância, que evoluiu há 6 anos com piora da oftalmoparesia externa e diminuição da força muscular em ombros e mãos. O estudo da condução nervosa motora após estímulo único demonstrou duplo potencial de ação muscular composto (PAMC com desaparecimento do segundo após esforço de 30 segundos. Ao estímulo repetitivo dos nervos facial e acessório observou-se um decremento da amplitude do PAMC maior que 10% com desaparecimento do segundo potencial. O paciente fez uso de fluoxetina mostrando discreta melhora da força muscular, porém persiste com: ptose palpebral, limitação dos movimentos oculares e PAMC repetitivo ao estudo da condução nervosa motora. As características da doença são discutidas.The slow-channel syndrome is one of the congenital myasthenic syndromes attributed to inherited kinetic disorders of the ion channel of the acetylcholine receptor of the neuromuscular junction. This is a case report of 25-years-old man with progressive ptosis and limitation of ocular movements since infancy, presented a 6-years history of worse of the external ophthalmoparesis and muscular weakness in the shoulders and hands. The motor nerve conduction studies after a supramaximal single stimulus disclosed a double compound muscle action potential (CMAP that disappeared after a voluntary contraction of 30 seconds. Repetitive stimulation of facial and spinal accessory nerves showed a CMAP decrement greater than 10% with disappeared of the second potential. The patient received fluoxetine with mild improvement of muscular weakness, but persisted with: ptosis, limitation of ocular movements and repetitive CMAP in the motor nerve conduction study

  6. Root canal treatment of mandibular second premolar tooth with taurodontism

    Directory of Open Access Journals (Sweden)

    Vujašković Mirjana

    2008-01-01

    Full Text Available INTRODUCTION Taurodontism is a morphoanatomical change in the shape of a tooth. An enlarged body of a tooth with smaller than usual roots is a characteristic feature. Internal tooth anatomy correlates with this appearance, which means that a taurodontal tooth has a large pulp chamber and apically positioned furcations. This dental anomaly may be associated with different syndromes and congenital discoders. CASE OUTLINE The case report presents the patient of a rare case of taurodontism in the mandibular second premolar with chronic periodontitis. Endodontic treatment was performed after dental history and clinical examination. Special care is required in all segments of endodontic treatment of a taurodontal tooth from the identification orifice, canal exploration, determining working length, cleaning and shaping and obturation of the root canal. Precurved K-file was used for canal exploration and location of the furcation. One mesial and one distal canal with the buccal position were identified in the apical third of the root canal. The working lengths of two canals were determined by radiographic interpretation with two K-files in each canal and verified with the apex locator. During canal instrumentation, the third canal was located in the disto-lingual position. The working length of the third canal was established using the apex locator. CONCLUSION Thorough knowledge of tooth anatomy and its variations can lead to lower percentage of endodontic failure. Each clinical case involving these teeth should be investigated carefully, clinically and radiographically to detect additional root canals. High quality radiographs from different angles and proper instrumentarium improve the quality of endodontic procedure.

  7. Segmental overgrowth syndrome due to an activating PIK3CA mutation identified in affected muscle tissue by exome sequencing

    DEFF Research Database (Denmark)

    Rasmussen, Maria; Sunde, Lone; Weigert, Karen Petra;

    2014-01-01

    Mosaic PIK3CA-mutations have been described in an increasing number of overgrowth syndromes. We describe a patient with a previously unreported segmental overgrowth syndrome with the mutation, PIKCA3 c.3140A>G (p.His1047Arg) in affected tissue diagnosed by exome sequencing. This PIK3CA-associated......-associated segmental overgrowth syndrome overlaps with CLOVES syndrome and fibroadipose hyperplasia but is distinct from each of these entities....

  8. Intermittent Fever, Progressive Weight Gain, and Personality Changes in a Five-Year-Old Girl: Unusual Paraneoplastic Syndrome due to Presacral Ganglioneuroma

    Directory of Open Access Journals (Sweden)

    Chao Yang

    2016-01-01

    Full Text Available Ganglioneuromas are rare tumors in the neuroblastoma group. Paraneoplastic syndrome (PNS due to presacral ganglioneuromas was hardly reported in previous literature. Here, we reported that a case of a 5-year-old girl with a presacral ganglioneuroma presented with PNS, who presented with intermittent fever, progressive weight gain, and personality changes. Our report revealed intermittent fever, progressive weight gain, and personality changes may represent rare paraneoplastic syndromes in ganglioneuromas.

  9. Inter ventional Mechanism of Tongxieyao Formula on Irritable Bowel Syndrome due to Liver Depression and Spleen Deifciency

    Institute of Scientific and Technical Information of China (English)

    Qian Feng; Bo Ping

    2013-01-01

    Objective:To investigate the efficacy and interventional mechanism of Tongxieyao Formula (TXYF) on rat model with irritable bowel syndrome (IBS) due to liver depression and spleen deifciency. Methods:75 newborn SD rats were randomly divided into groups A, B, C, D and E. Except group A, the rats in other groups were treated with senna and strained stress to establish IBS models due to liver depression and spleen deifciency. Groups A and B were fed with intra-gastric normal saline, group C pinaverium bromide, groups D and E TXYF. After treatment, animals were sacriifced to excise colons, and modiifed toluidine blue staining was applied to observe the changes of colonic mucosal mast cell (MC) count and de-granulation conditions in rats. Then the levels of 5-hydroxytryptamine (5-HT), P substance (SP), calcitonin gene-related peptide (CGRP) in blood samples were detected. Results:The counts of colonic mucosal MC and de-granulation increased signiifcantly in model control group. The levels of 5-HT, SP signiifcantly decreased while CGRP increased in C, D and group Es. Conclusion:TXYF can play its role of improving gastrointestinal mobility and reduce visceral sensitivity so as to treat IBS through reducing the counts of colonic mucosal MC and de-granulation as well as the levels of serum 5-HT and plasma SP, and increasing the level of CGRP in IBS model rats.

  10. Japanese case of Budd-Chiari syndrome due to hepatic vein thrombosis successfully treated with liver transplantation.

    Science.gov (United States)

    Iwasaki, Tomohiro; Kawai, Hirokazu; Oseki, Koushi; Togashi, Tadayuki; Shioji, Kazuhiko; Yamamoto, Satoshi; Sato, Yoshinobu; Suzuki, Kenji; Toba, Ken; Nomoto, Minoru; Hatakeyama, Katsuyoshi; Aoyagi, Yutaka

    2012-02-01

    A 22-year-old Japanese woman was found to have severe esophageal varices and then suffered from hepatic encephalopathy. She was diagnosed with Budd-Chiari syndrome (BCS) due to hepatic vein (HV) thrombosis accompanied by portal vein thrombosis without inferior vena cava (IVC) obstruction. Latent myeloproliferative neoplasm (MPN) lacking the JAK2-V617F mutation was considered to be the underlying disease. Liver transplantation was strikingly effective for treating the clinical symptoms attributable to portal hypertension. Although thrombosis of the internal jugular vein occurred due to thrombocythemia, which manifested after transplantation despite anticoagulation therapy with warfarin, the thrombus immediately disappeared with the addition of aspirin. Neither thrombosis nor BCS has recurred in more than 4 years since the amelioration of the last thrombotic event, and post-transplant immunosuppression with tacrolimus has not accelerated the progression of MPN. In Japan, IVC obstruction, which was a predominant type of BCS, is suggested to have decreased in incidence with recent improvements in hygiene. The precise diagnosis of BCS and causative underlying diseases should be made with attention to the current trend of the disease spectrum, which fluctuates with environmental sanitation levels. Because the stepwise strategy, including liver transplantation, has been proven effective for patients with pure HV obstruction in Western countries, this strategy should also be validated for utilization in Japan and in developing countries where HV obstruction potentially predominates.

  11. Successful treatment of life-threatening Evans syndrome due to antiphospholipid antibody syndrome by rituximab-based regimen: a case with long-term follow-up.

    Science.gov (United States)

    Rückert, A; Glimm, H; Lübbert, M; Grüllich, C

    2008-08-01

    An association of antiphospholipid antibody syndrome with antibodies directed against either phospholipids or plasma proteins strongly suggest that B-cell dysfunction may be involved in its pathogenesis. Antiphospholipid antibody syndrome with autoimmune cytopenias shows a poor response rate to conventional treatment with anticoagulants, glucocorticosteroids, immunosuppressive agents, intravenous immunoglobulin or plasmapheresis. We report a case of life-threatening antiphospholipid antibody syndrome with Evans syndrome receiving successful multimodal treatment including anti-CD20 monoclonal antibody rituximab with long-term follow-up.

  12. Endodontic Treatment of a Mandibular Second Premolar with Three Roots and Three Canals

    Directory of Open Access Journals (Sweden)

    Bonny Paul

    2014-01-01

    Full Text Available Complex root canal system with atypical variations is a common finding among mandibular premolars. Endodontic treatment in these teeth may not be successful due to the failure to recognise and treat multiple canals. This paper presents endodontic treatment of a mandibular second premolar with three roots and three canals.

  13. Canalization and symmetry in Boolean models for genetic regulatory networks

    Energy Technology Data Exchange (ETDEWEB)

    Reichhardt, C J Olson [Theoretical Division and Center for Nonlinear Studies, Los Alamos National Laboratory, Los Alamos, NM 87545 (United States); Bassler, Kevin E [Department of Physics, University of Houston, Houston, TX 77204-5005 (United States)

    2007-04-20

    Canalization of genetic regulatory networks has been argued to be favoured by evolutionary processes due to the stability that it can confer to phenotype expression. We explore whether a significant amount of canalization and partial canalization can arise in purely random networks in the absence of evolutionary pressures. We use a mapping of the Boolean functions in the Kauffman N-K model for genetic regulatory networks onto a k-dimensional Ising hypercube (where k = K) to show that the functions can be divided into different classes strictly due to geometrical constraints. The classes can be counted and their properties determined using results from group theory and isomer chemistry. We demonstrate that partially canalizing functions completely dominate all possible Boolean functions, particularly for higher k. This indicates that partial canalization is extremely common, even in randomly chosen networks, and has implications for how much information can be obtained in experiments on native state genetic regulatory networks.

  14. Canals, Bypass Canal, Published in 2002, Duchesne County.

    Data.gov (United States)

    NSGIC GIS Inventory (aka Ramona) — This Canals dataset, was produced all or in part from Other information as of 2002. It is described as 'Bypass Canal'. Data by this publisher are often provided in...

  15. [Survival by a young woman with malnutrition due to alcoholism and eating disorders and with acute respiratory distress syndrome due to severe pneumonia who showed increased serum neutrophil elastase activity].

    Science.gov (United States)

    Nakajima, Hirokazu; Sawaguchi, Hirochiyo; Nakajima, Shigenori

    2006-11-01

    A 30-year-old woman with malnutrition due to alcoholism and eating disorders was found to have acute respiratory distress syndrome (ARDS) and sepsis due to severe Streptococcus pneumoniae pneumonia. S. pneumoniae was detected by an in vitro rapid immunochromatographic assay for S. pneumoniae antigen in urine on the day of admission and by blood culture 2 days after admission. Symptoms and laboratory findings improved after treatment with sivelestat sodium hydrate, antibiotics, and mechanical ventilation. Treatment with sivelestat sodium hydrate also decreased serum neutrophil elastase activity. This case demonstrates the usefulness of early treatment with sivelestat sodium hydrate in ARDS due to severe pneumonia.

  16. Cutaneous reactions simulating erythema multiforme and Stevens Johnson syndrome due to occupational exposure to a plant-growth regulator

    Directory of Open Access Journals (Sweden)

    Inamadar Arun

    2007-01-01

    Full Text Available Background: In India, hydrogen cyanamide (Dormex ® is a plant growth regulator used mainly for the bud-breaking of grapevines. The use of this chemical may result in severe cutaneous reactions simulating erythema multiforme (EM, Stevens-Johnson syndrome (SJS and toxic epidermal necrolysis (TEN. Methods: Studies were conducted on four seasonal grapevine workers who developed severe cutaneous reactions following the unprotected use of Dormex ® (hydrogen cyanamide. Results: Two of the patients had EM-like skin lesions and the other two developed SJS-TEN-like skin lesions. A latent period of 5-7 days existed between the contact with the chemical and the development of the skin lesions. The histopathological picture was suggestive of EM. All the patients responded to systemic steroids and antihistamines. Conclusions: Hydrogen cyanamide may act as a hapten, initiating cytotoxic immunological attack on keratinocytes, resulting in EM- and SJS-TEN-like clinical picture. Awareness regarding such severe cutaneous reactions due to the inappropriate handling of Dormex ® is required. The use of personal protection equipments while handling agricultural chemicals is essential.

  17. Silver-Russell syndrome due to maternal uniparental disomy 7 and a familial reciprocal translocation t(7;13).

    Science.gov (United States)

    Behnecke, A; Hinderhofer, K; Jauch, A; Janssen, J W G; Moog, U

    2012-11-01

    Silver-Russell syndrome (SRS) is a genetically heterogeneous disorder characterized by intrauterine and postnatal growth retardation, typical facial features and a spectrum of additional features including body and limb asymmetry and clinodactyly. Maternal uniparental disomy for chromosome 7 (upd(7)mat) was shown to occur in 5-10% of patients with SRS. Maternal UPD7 is clinically often associated with mild SRS. Parents of an affected child are given a negligible recurrence risk as all reported cases with upd(7)mat have been sporadic so far. In general, chromosomal rearrangements-like translocations increase the likelihood of uniparental disomy (UPD) for the chromosomes involved. However, SRS as the result of a upd(7)mat in association with an inherited chromosomal translocation involving chromosome 7 has only been reported once before. Here, we describe the second case of SRS with upd(7)mat due to a familial reciprocal translocation t(7;13). This emphasizes the importance of chromosome analysis in SRS patients with upd(7)mat to rule out chromosomal rearrangements despite their rare occurrence as they are of great relevance for genetic counseling of SRS families.

  18. A Gut Gone to Pot: A Case of Cannabinoid Hyperemesis Syndrome due to K2, a Synthetic Cannabinoid

    Directory of Open Access Journals (Sweden)

    Anene Ukaigwe

    2014-01-01

    Full Text Available Cannabinoid Hyperemesis Syndrome (CHS was first described in 2004. Due to its novelty, CHS is often unrecognized by clinicians leading to expensive workup of these patients with cyclical symptoms. It may take up to 9 years to diagnose CHS. CHS is characterized by cyclical nausea and vomiting, abdominal pain, and an unusual compulsion to take hot showers in the presence of chronic use of cannabinoids. Cannabicyclohexanol is a synthetic cannabinoid, popularly known as K2 spice. It is a popular marijuana alternative among teenagers and young adults since it is readily available as herbal incense. Unlike marijuana, many users know that K2 is not detected in conventional urine drug screens, allowing those users to conceal their intake from typical detection methods. Serum or urine gas chromatography mass spectrophotometry is diagnostic, though not widely available. Thus, it is imperative for clinicians to recognize CHS, even with negative UDS, to provide cost-effective care. We present a 38-year-old man with a 10-year history of cannabis, and 1-year history of K2 abuse admitted with 1-week history of episodes of nausea, vomiting of clear fluids, and epigastric discomfort. Symptoms are relieved only by hot showers. Extensive laboratory, radiologic, and endoscopic evaluation was unrevealing. CHS was diagnosed, based on proposed criteria by Simonetti et al.

  19. Root canal cleaning through cavitation and microstreaming

    NARCIS (Netherlands)

    Verhaagen, B.

    2012-01-01

    We have investigated the flow from a needle using Computational Fluid Dynamics simulations and high-speed imaging experiments on sub-millimeter fluidic channels. These have shown that the flow is not effective in delivering the bleach near the bacteria, due to the complex geometry of the root canal.

  20. Multistate nested canalizing functions

    CERN Document Server

    Adeyeye, J O; Laubenbacher, R; Li, Y

    2013-01-01

    The concept of a nested canalizing Boolean function has been studied over the course of the last decade in the context of understanding the regulatory logic of molecular interaction networks, such as gene regulatory networks. Such functions appear preferentially in published models of such networks. Recently, this concept has been generalized to include multi-state functions, and a recursive formula has been derived for their number, as a function of the number of variables. This paper carries out a detailed analysis of the class of nested canalizing functions over an arbitrary finite field. Furthermore, the paper generalizes the concept further, and derives a closed formula for the number of such generalized functions. The paper also derives a closed formula for the number of equivalence classes under permutation of variables. This is motivated by the fact that two nested canalizing functions that differ by a permutation of the variables share many important properties with each other. The paper contributes ...

  1. Thalidomide for treatment of gastrointestinal bleedings due to angiodysplasia : a case report in acquired von Willebrand syndrome and review of the literature

    NARCIS (Netherlands)

    Engelen, E T; van Galen, K P M; Schutgens, R E G

    2015-01-01

    INTRODUCTION: Acquired von Willebrand syndrome is a rare bleeding disorder and treatment of the associated gastrointestinal (GI) bleeding due to angiodysplasia is challenging. AIM: The aim of this study was to present a new case on the successful use of thalidomide in a patient with acquired von Wil

  2. Nutrient canal of the fibula

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Joo-Hyuk; Ehara, Shigeru; Tamakawa, Yoshiharu [Departments of Radiology, Iwate Medical University School of Medicine, Morioka (Japan); Horiguchi, Masahura [Department of Anatomy I, Iwate Medical University School of Medicine, Morioka (Japan)

    2000-01-01

    Objective. To investigate the radiological features of the nutrient canal in the fibula.Design and patients. One hundred and seventy-nine dried fibulae were studied regarding the type, number, location, and direction of the nutrient canal. They were classified into a usual type (type I: a radiolucent line confined to the cortex) and an atypical type (type II: a radiolucent line extending beyond the cortex).Results. Among the total of 230 nutrient canals seen on radiography, 197 (86%) were type I and 33 (14%) were type II. On CT scans, the ossified rim of the canal extended into the medullary cavity in type II canals. The most common site was the posteromedial aspect in both type I and type II canals. Type II canals were significantly more common in fibulae with two or three nutrient canals. The frequency of the upward direction was more common in type II canals.Conclusion. Nutrient canals with extension of the ossified rim into the medullary canal are the cause of linear lucency that may simulate a fracture. Their features are slightly different from those of usual canals. (orig.)

  3. A Clinical Update on the Different Methods to Decrease the Occurrence of Missed Root Canals

    Science.gov (United States)

    Mohammadi, Zahed; Asgary, Saeed; Shalavi, Sousan; V. Abbott, Paul

    2016-01-01

    One of the main causes of endodontic treatment failure is the clinician’s inability to localize all the root canals. Due to the complex anatomy of the root canal system, missed canals are not uncommon. There are several strategies to decrease the possibility of missed root canals starting with good pre-operative radiographies. In order to overcome the limitations of conventional radiographies, cone-beam computed tomography (CBCT) can be considered. A correct access cavity preparation is of pivotal importance in localizing the orifices of the root canals. Furthermore, ultrasonics are very important devices to find missed canals. Increasing magnification and illumination enhance the possibility of finding all root canals during root canal treatment. The purpose of the present paper was to review all of the above techniques and devices. PMID:27471533

  4. Horizontal canal benign paroxysmal positional vertigo in a fighter pilot

    OpenAIRE

    Su-Jiang Xie; Jiang-Chang Wang; Li Ding; Xi-Qing Sun

    2011-01-01

    Benign paroxysmal positional vertigo (BPPV) is the most common disorder of the peripheral vestibular system, characterized by intense, positional provoked vertigo. BPPV is thought to occur due to canalithiasis of the posterior semicircular canal. Recently, a new entity of BPPV, known as horizontal canal (HC)-BPPV, has been recognized. Although only 3 to 8% of BPPV is due to horizontal canal involvement, HC-BPPV is not rare. We present a case of a naval fighter pilot who had an incident of HC-...

  5. Horizontal canal benign paroxysmal positional vertigo in a fighter pilot

    Directory of Open Access Journals (Sweden)

    Su-Jiang Xie

    2011-01-01

    Full Text Available Benign paroxysmal positional vertigo (BPPV is the most common disorder of the peripheral vestibular system, characterized by intense, positional provoked vertigo. BPPV is thought to occur due to canalithiasis of the posterior semicircular canal. Recently, a new entity of BPPV, known as horizontal canal (HC-BPPV, has been recognized. Although only 3 to 8% of BPPV is due to horizontal canal involvement, HC-BPPV is not rare. We present a case of a naval fighter pilot who had an incident of HC-BPPV on the ground. The pilot aeromedical evaluation and considerations are discussed.

  6. Horizontal canal benign paroxysmal positional vertigo in a fighter pilot.

    Science.gov (United States)

    Xie, Su-Jiang; Wang, Jiang-Chang; Ding, Li; Sun, Xi-Qing

    2011-01-01

    Benign paroxysmal positional vertigo (BPPV) is the most common disorder of the peripheral vestibular system, characterized by intense, positional provoked vertigo. BPPV is thought to occur due to canalithiasis of the posterior semicircular canal. Recently, a new entity of BPPV, known as horizontal canal (HC)-BPPV, has been recognized. Although only 3 to 8% of BPPV is due to horizontal canal involvement, HC-BPPV is not rare. We present a case of a naval fighter pilot who had an incident of HC-BPPV on the ground. The pilot aeromedical evaluation and considerations are discussed.

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

    Science.gov (United States)

    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.

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

    Energy Technology Data Exchange (ETDEWEB)

    Sarma, Asha, E-mail: ashasarma@gmail.com; Shyn, Paul B., E-mail: pshyn@partners.org [Brigham and Women’s Hospital, Department of Radiology (United States); Vivian, Mark A. [University of Manitoba, Department of Radiology (Canada); Ng, Ju-Mei [Brigham and Women’s Hospital, Department of Anesthesiology (United States); Tuncali, Kemal [Brigham and Women’s Hospital, Department of Radiology (United States); Lorch, Jorchen H. [Dana Farber Cancer Institute, Department of Medicine (United States); Zaheer, Sarah N.; Gordon, Michael S. [Brigham and Women’s Hospital, Department of Endocrinology (United States); Silverman, Stuart G. [Brigham and Women’s Hospital, Department of Radiology (United States)

    2015-10-15

    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: One 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.

  9. Delayed diagnosis in a house of correction: Smith-Magenis syndrome due to a de novo nonsense RAI1 variant.

    Science.gov (United States)

    Yeetong, Patra; Vilboux, Thierry; Ciccone, Carla; Boulier, Kristin; Schnur, Rhonda E; Gahl, William A; Huizing, Marjan; Laje, Gonzalo; Smith, Ann C M

    2016-09-01

    We report a 25-year-old female confirmed to have Smith-Magenis syndrome (SMS) due to a de novo RAI1 variant. Her past history is significant for developmental and intellectual delay, early and escalating maladaptive behaviors, and features consistent with significant sleep disturbance, the etiology of which was not confirmed for over two decades. The diagnosis of SMS was initially suspected in 1998 (at age 12 years), but that was 5 years before the initial report of RAI1 variants as causative of the SMS phenotype; cytogenetic fluorescence in situ hybridization studies failed to confirm an interstitial deletion of 17p11.2. Re-evaluation for suspected SMS was pursued with RAI1 sequencing analysis in response to urgent parental concerns of escalating behaviors and aggression with subsequent incarceration of the subject for assault of a health professional. Genetic analysis revealed a de novo RAI1 (NM_030665.3) nonsense variant, c.5536C>T; p.Q1846X. This case illustrates the importance of confirming the SMS diagnosis, which is associated with cognitive and functional impairment, as well as significant psychiatric co-morbidities and behavioral problems. The diagnosis was particularly relevant to the legal discussion and determination of her competence to stand trial. As other similar cases may exist, this report will help to increase awareness of the possibility of a very late diagnosis of SMS, with the need for re-evaluation of individuals suspected to have SMS who were initially evaluated prior to the identification of the RAI1 gene. © 2016 Wiley Periodicals, Inc.

  10. A maxillary central incisor with four root canals

    Directory of Open Access Journals (Sweden)

    Fábio de Almeida-Gomes

    2012-01-01

    Full Text Available The objective of the present study is to present a case report of endodontic treatment of a maxillary central incisor with 1 root and 4 root canals. The success of endodontic treatment requires knowledge of dental anatomy and its variations. This clinical article reports an unusual anatomy detected in a maxillary central incisor with 4 root canals with an associated periapical lesion. The incidence of 4 root canals in this tooth is rare. However, it must be taken into consideration, the clinical and radiographic evaluations during the endodontic treatment in order to enhance the diagnostic. Many times, the presence of a supernumerary canal is noticed only after canal treatment due to continuing post-operative discomfort or treatment failure.

  11. Megakaryocytic dysfunction in myelodysplastic syndromes and idiopathic thrombocytopenic purpura is in part due to different forms of cell death

    NARCIS (Netherlands)

    Houwerzijl, E. J.; Blom, N. R.; van der Want, J. J. L.; Vellenga, E.; de Wolf, J. T. M.

    2006-01-01

    Platelet production requires compartmentalized caspase activation within megakaryocytes. This eventually results in platelet release in conjunction with apoptosis of the remaining megakaryocyte. Recent studies have indicated that in low-risk myelodysplastic syndromes (MDS) and idiopathic thrombocyto

  12. Hyponatremia in aneurysmal subarachnoid hemorrhage is due to the syndrome of inappropriate antidiuresis and acute glucocorticoid deficiency

    LENUS (Irish Health Repository)

    Hannon, M J

    2011-06-01

    Hyponatraemia is the most common electrolyte abnormality following subarachnoid haemorrhage (SAH) and contributes to increased morbidity and mortality. Retrospective data suggests that the syndrome of inappropriate diuresis (SIAD) is the most common cause of hyponatraemia in SAH, though cerebral salt wasting has been postulated by some workers to be the predominant abnormality. Data which has shown acute glucocorticoid deficiency following SAH has suggested that some cases of euvolaemic hyponatraemia may also be caused by this mechanism.We prospectively studied the hormonal and haemodynamic influences involved in the development of hyponatraemia in 100 patients (61% female, median age 53 (range 16-82)) with non-traumatic aneurysmal SAH. Each patient had plasma sodium (pNa), urea, osmolality, glucose and 0900h cortisol (PC), and urinary sodium and osmolality measured on days 1, 2, 3, 4, 6, 8, 10 and 12 following SAH. Fluid balance and haemodynamic parameters were recorded daily. Results were compared with 15 patients admitted to ITU following vascular surgery. A PC<300nmol\\/L in a patient in ITU was regarded clinically as inappropriately low.49% of patients developed hyponatraemia (pNa<135 mmol\\/L), including 14% who developed clinically significantly hyponatraemia (pNa<130 mmol\\/L). 36\\/49 (73.4%) developed hyponatraemia between days 1 and 3 post SAH. The median duration of hyponatraemia was 3 days (range 1–10 days).In 35\\/49 (71.4%), hyponatraemia was due to SIAD as defined by standard diagnostic criteria. 14% of SAH patients had at least one PC<300nmol\\/L; 5 of these (35.7%) developed hyponatraemia. In 4 patients hyponatraemia was preceded by acute cortisol deficiency and responded to hydrocortisone treatment. In contrast, all controls had PC>500 nmol\\/L on day 1, and >300 nmol on days 3–12. There were no cases of cerebral salt wasting. There was no relationship between the incidence of hyponatraemia and the defined anatomical territory or severity of

  13. Papular-purpuric "gloves and socks" syndrome due to parvovirus B19: report of a case with unusual features

    Directory of Open Access Journals (Sweden)

    PASSONI Luiz Fernando C.

    2001-01-01

    Full Text Available We present a case of papular-purpuric "gloves and socks" syndrome (PPGSS in an adult male with acute parvovirus B19 infection. The patient displayed the classical features of fever, oral lesions, and purpura on hands and feet, but the purpuric lesions on the feet evolved to superficial skin necrosis, a feature not previously described in this syndrome. We believe this is the first reported case of PPGSS occurring in Brazil.

  14. Diagnostic Dilemma: Lymphocytopenia in a Patient with Thymoma - Side Effect due to Irradiation Treatment or Development of Good's Syndrome?

    DEFF Research Database (Denmark)

    Raaschou-Jensen, Klas; Katzenstein, Terese L; Marquart, Hanne;

    2010-01-01

    A case of persistent B-cell lymphocytopenia in a 40-year-old woman with lymphoid-epithelial thymoma treated with chemotherapy, surgery and irradiation is described. The possible diagnosis of Good's syndrome (hypogammaglobulinaemia and thymoma) is discussed.......A case of persistent B-cell lymphocytopenia in a 40-year-old woman with lymphoid-epithelial thymoma treated with chemotherapy, surgery and irradiation is described. The possible diagnosis of Good's syndrome (hypogammaglobulinaemia and thymoma) is discussed....

  15. MANAGEMENT OF LUMBAR SPINAL CANAL STENOSIS

    Directory of Open Access Journals (Sweden)

    Mukhergee G. S

    2016-06-01

    Full Text Available BACKGROUND Spinal stenosis is one of the most common conditions in the elderly. It is defined as a narrowing of the spinal canal. The term stenosis is derived from the Greek word for narrow, which is “Stenos”. The first description of this condition is attributed to Antoine portal in 1803. Verbiest is credited with coining the term spinal stenosis and the associated narrowing of the spinal canal as its potential cause. [1-10] Kirkaldy–Willis subsequently described the degenerative cascade in the lumbar spine as the cause for the altered anatomy and pathophysiology in spinal stenosis. [11-15] If compression does not occur, the canal should be described as narrow but not stenotic. Some studies defined lumbar spinal stenosis as a “narrowing of the osteoligamentous vertebral canal and/or the intervertebral foramina causing compression of the thecal sac and/or the caudal nerve roots; at a single vertebral level, narrowing may affect the whole canal or part of it” (Postacchini 1983. This definition distinguished between disc herniation and stenosis. [16] . The most common type of spinal stenosis is caused by degenerative arthritis of the spine. Hypertrophy and ossification of the posterior longitudinal ligament which usually are confined to the cervical spine, and diffuse idiopathic skeletal hyperostosis (DISH syndrome also may result in an acquired form of spinal stenosis. Congenital forms caused by disorders such as achondroplasia and dysplastic spondylolisthesis are much less common. Congenital spinal stenosis usually is central and is evident or imaging studies. Idiopathic congenital narrowing usually involves the anteroposterior dimension of the canal secondary to short pedicles; the patient otherwise is normal. In contrast, in achondroplasia, the canal is narrowed in the anteroposterior plane owing to shortened pedicles and in lateral dimension because of diminished interpedicular distance. Acquired forms of spinal stenosis usually are

  16. Curved canals: Ancestral files revisited

    Directory of Open Access Journals (Sweden)

    Jain Nidhi

    2008-01-01

    Full Text Available The aim of this article is to provide an insight into different techniques of cleaning and shaping of curved root canals with hand instruments. Although a plethora of root canal instruments like ProFile, ProTaper, LightSpeed ® etc dominate the current scenario, the inexpensive conventional root canal hand files such as K-files and flexible files can be used to get optimum results when handled meticulously. Special emphasis has been put on the modifications in biomechanical canal preparation in a variety of curved canal cases. This article compiles a series of clinical cases of root canals with curvatures in the middle and apical third and with S-shaped curvatures that were successfully completed by employing only conventional root canal hand instruments.

  17. Syndromic mental retardation with thrombocytopenia due to 21q22.11q22.12 deletion: Report of three patients.

    Science.gov (United States)

    Katzaki, Eleni; Morin, Gilles; Pollazzon, Marzia; Papa, Filomena Tiziana; Buoni, Sabrina; Hayek, Joussef; Andrieux, Joris; Lecerf, Laure; Popovici, Cornel; Receveur, Aline; Mathieu-Dramard, Michèle; Renieri, Alessandra; Mari, Francesca; Philip, Nicole

    2010-07-01

    During the last few years, an increasing number of microdeletion/microduplication syndromes have been delineated. This rapid evolution is mainly due to the availability of microarray technology as a routine diagnostic tool. Microdeletions of the 21q22.11q22.12 region encompassing the RUNX1 gene have been reported in nine patients presenting with syndromic thrombocytopenia and mental retardation. RUNX1 gene is responsible for an autosomal dominant platelet disorder with predisposition to acute myelogenous leukemia. We report on three novel patients with an overlapping "de novo" interstitial deletion involving the band 21q22 characterized by array-CGH. All our patients presented with severe developmental delay, dysmorphic features, behavioral problems, and thrombocytopenia. Comparing the clinical features of our patients with the overlapping ones already reported two potential phenotypes related to 21q22 microdeletion including RUNX1 were highlighted: thrombocytopenia with +/- mild dysmorphic features and syndromic thrombocytopenia with growth and developmental delay.

  18. Ramsay Hunt syndrome and zoster laryngitis with multiple cranial nerve involvement.

    Science.gov (United States)

    Shinha, Takashi; Krishna, Pasala

    2015-01-01

    Ramsay Hunt syndrome is characterized by varicella zoster virus infection affecting the geniculate ganglion of the facial nerve. It typically presents with vesicles in the external auditory canal associated with auricular pain and peripheral facial nerve paralysis. Although vestibulocochlear nerve is frequently co-involved during the course of Ramsay Hunt syndrome, multiple lower cranial nerve involvement has rarely been described in the literature. In addition, laryngitis due to varicella zoster virus is a diagnostic challenge due to its unfamiliarity among clinicians. We report a case of Ramsay Hunt syndrome with laryngitis involving multiple lower cranial nerves.

  19. Ramsay Hunt syndrome and zoster laryngitis with multiple cranial nerve involvement

    Directory of Open Access Journals (Sweden)

    Takashi Shinha

    2015-01-01

    Full Text Available Ramsay Hunt syndrome is characterized by varicella zoster virus infection affecting the geniculate ganglion of the facial nerve. It typically presents with vesicles in the external auditory canal associated with auricular pain and peripheral facial nerve paralysis. Although vestibulocochlear nerve is frequently co-involved during the course of Ramsay Hunt syndrome, multiple lower cranial nerve involvement has rarely been described in the literature. In addition, laryngitis due to varicella zoster virus is a diagnostic challenge due to its unfamiliarity among clinicians. We report a case of Ramsay Hunt syndrome with laryngitis involving multiple lower cranial nerves.

  20. Endogenous Cushing's Syndrome with Precocious Puberty in an 8-Year-Old Boy due to a Large Unilateral Adrenal Adenoma

    Science.gov (United States)

    Hossain, Muhammad Rajib; Alam, Md. Mashiul; Nabi, Junaid; Kibria, Mahzabin

    2013-01-01

    Adrenocortical tumors (ACTs) causing Cushing's syndrome are extremely rare in children and adolescents. Bilateral macronodular adrenocortical disease which is a component of the McCune-Albright syndrome is the most common cause of endogenous Cushing's syndrome. We report the case of a boy with Cushing's syndrome who presented with obesity and growth retardation. The child was hypertensive. The biochemical evaluation revealed that his serum cortisol levels were 25.80 μg/dL, with a concomitant plasma ACTH level of 10.0 pg/mL and nonsuppressed serum cortisol on high-dose dexamethasone suppression test (HDDST) to be 20.38 μg/dL. Computed tomography of the abdomen demonstrated a 8 × 6 × 5 cm left adrenal mass with internal calcifications. Following preoperative stabilization, laparotomy was carried out which revealed a lobulated left adrenal mass with intact capsule weighing 120 grams. Histopathological examination revealed a benign cortical neoplastic lesion, suggestive of adrenal adenoma; composed of large polygonal cells with centrally placed nuclei and prominent nucleoli without capsular and vascular invasion. On the seventh postoperative day, cortisol levels were within normal range indicating biochemical remission of Cushing's syndrome. On followup after three months, the patient showed significant clinical improvement and had lost moderate amount of weight and adrenal imaging was found to be normal. PMID:23533838

  1. NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairment

    Science.gov (United States)

    Casey, Jillian P.; Støve, Svein I.; McGorrian, Catherine; Galvin, Joseph; Blenski, Marina; Dunne, Aimee; Ennis, Sean; Brett, Francesca; King, Mary D.; Arnesen, Thomas; Lynch, Sally Ann

    2015-01-01

    We report two brothers from a non-consanguineous Irish family presenting with a novel syndrome characterised by intellectual disability, facial dysmorphism, scoliosis and long QT. Their mother has a milder phenotype including long QT. X-linked inheritance was suspected. Whole exome sequencing identified a novel missense variant (c.128 A > C; p.Tyr43Ser) in NAA10 (X chromosome) as the cause of the family’s disorder. Sanger sequencing confirmed that the mutation arose de novo in the carrier mother. NAA10 encodes the catalytic subunit of the major human N-terminal acetylation complex NatA. In vitro assays for the p.Tyr43Ser mutant enzyme showed a significant decrease in catalytic activity and reduced stability compared to wild-type Naa10 protein. NAA10 has previously been associated with Ogden syndrome, Lenz microphthalmia syndrome and non-syndromic developmental delay. Our findings expand the clinical spectrum of NAA10 and suggest that the proposed correlation between mutant Naa10 enzyme activity and phenotype severity is more complex than anticipated; the p.Tyr43Ser mutant enzyme has less catalytic activity than the p.Ser37Pro mutant associated with lethal Ogden syndrome but results in a milder phenotype. Importantly, we highlight the need for cardiac assessment in males and females with NAA10 variants as both patients and carriers can have long QT. PMID:26522270

  2. The connective tissue of the adductor canal--a morphological study in fetal and adult specimens.

    Science.gov (United States)

    de Oliveira, Flavia; de Vasconcellos Fontes, Ricardo Bragança; da Silva Baptista, Josemberg; Mayer, William Paganini; de Campos Boldrini, Silvia; Liberti, Edson Aparecido

    2009-03-01

    The adductor canal is a conical or pyramid-shaped pathway that contains the femoral vessels, saphenous nerve and a varying amount of fibrous tissue. It is involved in adductor canal syndrome, a claudication syndrome involving young individuals. Our objective was to study modifications induced by aging on the connective tissue and to correlate them to the proposed pathophysiological mechanism. The bilateral adductor canals and femoral vessels of four adult and five fetal specimens were removed en bloc and analyzed. Sections 12 microm thick were obtained and the connective tissue studied with Sirius Red, Verhoeff, Weigert and Azo stains. Scanning electron microscopy (SEM) photomicrographs of the surfaces of each adductor canal were also analyzed. Findings were homogeneous inside each group. The connective tissue of the canal was continuous with the outer layer of the vessels in both groups. The pattern of concentric, thick collagen type I bundles in fetal specimens was replaced by a diffuse network of compact collagen bundles with several transversal fibers and an impressive content of collagen III fibers. Elastic fibers in adults were not concentrated in the thick bundles but dispersed in line with the transversal fiber system. A dynamic compression mechanism with or without an evident constricting fibrous band has been proposed previously for adductor canal syndrome, possibly involving the connective tissue inside the canal. The vessels may not slide freely during movement. These age-related modifications in normal individuals may represent necessary conditions for this syndrome to develop.

  3. Coexisting diseases modifying each other’s presentation - lack of growth failure in Turner syndrome due to the associated pituitary gigantism

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    Dragović Tamara

    2016-01-01

    Full Text Available Introduction. Turner syndrome presents with one of the most frequent chromosomal aberrations in female, typically presented with growth retardation, ovarian insufficiency, facial dysmorphism, and numerous other somatic stigmata. Gigantism is an extremely rare condition resulting from an excessive growth hormone (GH secretion that occurs during childhood before the fusion of epiphyseal growth plates. The major clinical feature of gigantism is growth acceleration, although these patients also suffer from hypogonadism and soft tissue hypertrophy. Case report. We presented a girl with mosaic Turner syndrome, delayed puberty and normal linear growth for the sex and age, due to the simultaneous GH hypersecretion by pituitary tumor. In the presented case all the typical phenotypic stigmata related to Turner syndrome were missing. Due to excessive pituitary GH secretion during the period while the epiphyseal growth plates of the long bones are still open, characteristic stagnation in longitudinal growth has not been demonstrated. The patient presented with delayed puberty and primary amenorrhea along with a sudden appearance of clinical signs of hypersomatotropinism, which were the reasons for seeking medical help at the age of 16. Conclusion. Physical examination of children presenting with delayed puberty but without growth arrest must include an overall hormonal and genetic testing even in the cases when typical clinical presentations of genetic disorder are absent. To the best of our knowledge, this is the first reported case of simultaneous presence of Turner syndrome and gigantism in the literature.

  4. Twist haploinsufficiency in Saethre-Chotzen syndrome induces calvarial osteoblast apoptosis due to increased TNFalpha expression and caspase-2 activation.

    Science.gov (United States)

    Yousfi, Malika; Lasmoles, Francoise; El Ghouzzi, Vincent; Marie, Pierre J

    2002-02-15

    Saethre-Chotzen syndrome (SCS) is a human autosomal dominant disorder characterized by premature fusion of cranial sutures caused by mutations of the Twist gene encoding a basic helix-loop-helix (bHLH) transcription factor. We previously showed that Twist haploinsufficiency caused by a Y103X nonsense mutation in SCS alters both proliferation and osteoblast gene expression in human calvarial osteoblasts, indicating that Twist is an important regulator of osteoblast differentiation. Here we show that Twist haploinsufficiency alters osteoblast apoptosis in SCS. Analysis of terminal deoxynucleotidyl transferase-mediated nick-end labelling (TUNEL) demonstrated increased osteoblast and osteocyte apoptosis in coronal sutures from two SCS patients with nonsense mutations (Y103X and Q109X) that result in the synthesis of bHLH-truncated proteins, and one patient with a missense mutation in the basic domain (R118C) that abolishes Twist DNA binding. To assess the mechanisms involved, we studied osteoblast apoptosis in mutant (M-Tw) calvarial cells bearing the Y103X mutation resulting in decreased Twist mRNA and protein levels. M-Tw cells cultured in low serum conditions showed enhanced DNA fragmentation compared to normal (Nl) age-matched calvarial cells. Biochemical analysis showed increased activity of initiator caspases-2 and -8 and downstream effector caspases-3, -6 and -7 in mutant osteoblasts. Caspase-2 was upstream of caspase-8 and effector caspases-3, -6 and -7 because their activities were suppressed by a specific caspase-2 inhibitor. M-Tw osteoblasts also showed increased cytochrome c release from the mitochondria. However, the activity of the downstream effector caspase-9 was not increased due to overexpression of the antagonist protein Hsp70. Detection of differentially expressed genes using cDNA expression array revealed increased Bax and TNFalpha mRNA levels in M-Tw compared to Nl cells, a finding confirmed by RT-PCR and western blot analyses. Neutralization of

  5. Managing curved canals

    Directory of Open Access Journals (Sweden)

    Iram Ansari

    2012-01-01

    Full Text Available Dilaceration is the result of a developmental anomaly in which there has been an abrupt change in the axial inclination between the crown and the root of a tooth. Dilaceration can be seen in both the permanent and deciduous dentitions, and is more commonly found in posterior teeth and in maxilla. Periapical radiographs are the most appropriate way to diagnose the presence of root dilacerations. The controlled regularly tapered preparation of the curved canals is the ultimate challenge in endodontics. Careful and meticulous technique will yield a safe and sufficient enlargement of the curved canals. This article gives a review of the literature and three interesting case reports of root dilacerations.

  6. [Congenital ectropion of the upper eyelids due to an anomaly of the eyelids in down's syndrome (author's transl)].

    Science.gov (United States)

    Hennighausen, U; Schmidt-Martens, F W; Reim, M

    1978-05-01

    A 5-months-old female baby with Down's Syndrome developed an intermittent spastic ectropion of the upper eyelids. The reasons for this are thought to be the flaccidity of the connective tissue, which is typical in Down's Syndrome, and a little anomaly of the eyelids, the tarsus was too short horizontally and very weak and the upper eyelids were somewhat larger than normal and elongated. Suturing Bangerter's lid-sheets on the upper eyelids for 15 days resulted in a scarring of the tarsus with the lax connective tissue of the upper eyelids. The ectropion disappeared and did not recur.

  7. Hypotension due to Chemotherapy in a Patient with Small Cell Lung Cancer and Lambert-Eaton Myasthenic Syndrome Undergoing Hemodialysis: A First Case Report

    Directory of Open Access Journals (Sweden)

    Taiji Kuwata

    2012-01-01

    Full Text Available We present the first case of small cell lung cancer with Lambert-Eaton myasthenic syndrome during hemodialysis (HD. A 72-year-old male patient receiving HD experienced progressive muscle weakness. He was diagnosed with small cell lung cancer with Lambert-Eaton myasthenic syndrome due to an increased serum level of anti-voltage-gated calcium channel antibody and aspiration cytology on endobronchial ultrasonography for the swelling of a subcarinal lymph node. He received chemotherapy consisting of carboplatin (300 mg/m2 and etoposide (50 mg/m2, to which he had a partial response. However, the second therapy course could not be administered because of the unexpected development of severe hematological adverse events, which also prevented him from undergoing further HD. This case indicates that caution should be taken when using chemotherapy for such patients because of hypotension due to chemotherapy, with which it is impossible to undergo HD.

  8. Route Selection by Tankers(Dirty) at the Suez Canal

    Institute of Scientific and Technical Information of China (English)

    Risto Laulajainen

    2007-01-01

    <正>The Suez Canal,attached route alternatives with traffic flows and areas are described and theoretical break-even points derived. Logistically,route selection depends on relative distances,the level of spot rates and canal dues,the sensitivity to change growing with rising rate levels.The connection is diluted by the canal /pipeline owners’ price differentiation and the charterers’ capital costs;interest on cargo and change of its value during transit.Ship-owners are largely neutral to route choice as long as rates and main cost items are directly related to distance.

  9. Real-world analysis of the Celgene Global Drug Safety database: early discontinuation of lenalidomide in patients with myelodysplastic syndromes due to non-serious rash

    OpenAIRE

    Weiss L; Gary D; Swern AS; Freeman J.; Sugrue MM

    2015-01-01

    Lilia Weiss,1 Dianna Gary,1 Arlene S Swern,2 John Freeman,1 Mary M Sugrue3 1Global Drug Safety, Celgene Corporation, Summit, 2Biometrics, Celgene Corporation, Berkeley Heights, 3Medical Affairs, Celgene Corporation, Summit, NJ, USA Background: Lenalidomide is approved for treating transfusion-dependent anemia due to lower-risk del(5q) myelodysplastic syndromes (MDS). In clinical trials, rash was common, although severe rash was infrequent. To examine rash in patients with MDS treated with l...

  10. Histological features of the pancreas in a patient with congenital hyperinsulinism due to Beckwith-Wiedemann syndrome

    DEFF Research Database (Denmark)

    Christensen, Lene; Christesen, Henrik Boye Thybo; Brusgaard, Klaus

    Introduction: Beckwith-Wiedemann syndrome (BWS) is a genetic disorder with typical features such as macroglossia, abdominal wall defects, macrosomia, visceromegaly and embryonal tumors. Hypoglycemia is reported in about half of all newborns with BWS, usually resolving spontaneously within the first...

  11. ACTH overexpressing pituitary hyperplasia in a patient with ectopic ACTH-syndrome due to carcinoid of the lung

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    Larisa Konstantinovna Dzeranova

    2015-01-01

    Full Text Available Ectopic ACTH-syndrome is the most diagnostically challenging  variant of endogenous hypercortisolism. Particularly difficult differential diagnosis of this syndrome is from Cushing's disease (CD, as currently there is no single test sufficiently accurate to differentiate accurately ectopic ACTH production from the pituitary. The main functional tests are based on the fact that the vast majority of ectopic ACTH production is autonomous and suppresses one from pituitary. But in some cases this is not observed, and then the data obtained all necessary laboratory and instrumental research evidence in favor of central genesis of CD in a patient with ACTH ectopic secretion, which can lead to inappropriate treatment. If you confirm the ectopic ACTH-syndrome, it may take quite a long time of searching for the pathological focus, as there is no sufficiently precise imaging and diagnostic method for determining the localization of ectopic source of ACTH production. Thus, the differential diagnosis of ACTH-dependent hypercortisolism and localization of the ectopic tumor is the cornerstone of early and radical treatment of patients. We present a difficult clinical case of a patient having a pituitary hyperplasia with excessive ACTH expression with primary ectopic ACTH syndrome caused by lung carcinoid.

  12. Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome

    DEFF Research Database (Denmark)

    Ostergaard, Elsebet; Rodenburg, Richard J; van den Brand, Mariël;

    2011-01-01

    This study investigated a girl with Leigh syndrome born to first-cousin parents of Pakistani descent with an isolated respiratory chain complex I deficiency in muscle and fibroblasts. Her early development was delayed, and from age 2 years she started losing motor abilities. Cerebral MRI showed...

  13. Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism

    Science.gov (United States)

    Koolen, David A; Dupont, Juliette; de Leeuw, Nicole; Vissers, Lisenka ELM; van den Heuvel, Simone PA; Bradbury, Alyson; Steer, James; de Brouwer, Arjan PM; ten Kate, Leo P; Nillesen, Willy M; de Vries, Bert BA; Parker, Michael J

    2012-01-01

    The 17q21.31 microdeletion syndrome is characterised by intellectual disability, epilepsy, distinctive facial dysmorphism, and congenital anomalies. To date, all individuals reported with this syndrome have been simplex patients, resulting from de novo deletions. Here, we report sibling recurrence of the 17q21.31 microdeletion syndrome in two independent families. In both families, the mother was confirmed to be the parent-of-origin for the 17q21.31 deletion. Fluorescence in situ hybridisation analyses in buccal mucosa cells, of the mother of family 1, identified monosomy 17q21.31 in 4/50 nuclei (8%). In mother of family 2, the deletion was identified in 2/60 (3%) metaphase and in 3/100 (3%) interphase nuclei in peripheral lymphocytes, and in 7/100 (7%) interphase nuclei in buccal cells. A common 17q21.31 inversion polymorphism predisposes to non-allelic homologous recombination and hereby to the 17q21.31 microdeletion syndrome. On the basis of the 17q21.31 inversion status of the parents, we calculated that the probability of the second deletion occurring by chance alone was 1/14 438 and 1/4812, respectively. If the inversion status of the parents of a child with the 17q21.31 microdeletion syndrome is unknown, the overall risk of a second child with the 17q21.31 microdeletion is 1/9461. We conclude that the presence of low-level maternal somatic–gonadal mosaicism is associated with the microdeletion recurrence in these families. This suggests that the recurrence risk for parents with a child with a 17q21.31 microdeletion for future pregnancies is higher than by chance alone and testing for mosaicism in the parents might be considered as a helpful tool in the genetic counselling. PMID:22293690

  14. Analysis of sedimentation of canals

    Directory of Open Access Journals (Sweden)

    Agunwamba, J.C.,

    2013-03-01

    Full Text Available The dredged canals in the Niger Delta coastal flood plain are being threatened by siltation. This study is limited to those canals in Rivers State of Nigeria, which are under the influence of tidal waves. A total of eight canals were considered with four each from Ekulama and Cawthorne Channel. Different approaches were used to carry out this study, which includes field reconnaissance survey, hydrographic survey, soil sample analysis and collection of all available data and information. The typical bed materials size (D50 is approximately 0.01mm; which gives a settling velocity of 0.09mm/sec using stroke’s law. Hydrographic survey of the canals from 1992 to 1996 revealed an average siltation rate of 2.35m/yr. A regression equation was also derived which relates the cost of dredging to canal area, rate of siltation and average aggregation. A plot of canal centre profile; entrance, middle and end cross sections showing sediment distribution along the canal profile, shows that majority of the particles that form the sediment enter the canal from the rivers. The sedimentation is caused by the reduction in water current, which has average value of 0.0145m/sec. The bathyorographical check on the canals revealed that the sum of the two exterior angles of the canal with the river at the point of connection has to lie within 1800 + 50 for an effective flow that will minimize settlement of particles. In addition, the canals should be constructed to start and terminate on a moving water body, to avoid dead ends. A regression equation was determined which relates the cost of dredging to canal area, rate of siltation and average aggradations.

  15. Repeated renal infarction in native and transplanted kidneys due to left ventricular thrombus formation caused by antiphospholipid antibody syndrome.

    Science.gov (United States)

    Scully, Paul; Leckstroem, Daniel C; McGrath, Andrew; Chambers, John; Goldsmith, David J

    2013-01-01

    Antiphospholipid syndrome can be a feature of several underlying conditions, such as lupus, but it can also occur idiopathically. Diagnosis usually comes after investigation of recurrent venous or arterial thromboses, emboli, or hypertension/proteinuria where the kidney is involved and is usually confirmed by laboratory testing. We describe a case of a man with a myocardial infarction who developed mural thrombus in an akinetic left ventricular segment but then who recurrently embolized first to one of his native kidneys and then later to a transplanted kidney. Although the clinical behavior was typical of antiphospholipid syndrome, it took numerous laboratory assays over many years until finally the problem was confirmed and life-long warfarin therapy instituted.

  16. Aberrant muscle syndrome: hypertrophy of the hand and arm due to aberrant muscles with or without hypertrophy of the muscles.

    Science.gov (United States)

    Ogino, Toshihiko; Satake, Hiroshi; Takahara, Masatoshi; Kikuchi, Noriaki; Watanabe, Tadayosi; Iba, Kousuke; Ishii, Seiichi

    2010-06-01

    Five patients were reported in our congenital anomaly registry who had six hands in total with muscular hyperplasia, aberrant muscles, ulnar drift of the fingers in the metacarpophalangeal (MP) joints, flexion contractures of the MP joints, and enlargement of the metacarpal spaces. Thirty patients with unilateral involvement of this condition have been reported previously. We reviewed these cases and found that the condition varied in severity and that it was reported using different names. However, this condition seems different from true macrodactyly and multiple camptodactyly, including windblown hand, and seems to be an isolated entity of congenital upper limb anomaly. The authors recommend 'aberrant muscle syndrome' or 'accessory muscle syndrome' as a diagnostic name, because this seems to be the most common pathological finding in this condition.

  17. A novel fibrillin-1 mutation in an egyptian marfan family: A proband showing nephrotic syndrome due to focal segmental glomerulosclerosis

    Directory of Open Access Journals (Sweden)

    Mohammad Al-Haggar

    2017-01-01

    Full Text Available Marfan syndrome (MFS, the founding member of connective tissue disorder, is an autosomal dominant disease; it is caused by a deficiency of the microfibrillar protein fibrillin-1 ( FBN1 and characterized by involvement of three main systems; skeletal, ocular, and cardiovascular. More than one thousand mutations in FBN1 gene on chromosome 15 were found to cause MFS. Nephrotic syndrome (NS had been described in very few patients with MFS being attributed to membranoproliferative glomerulonephritis secondary to infective endocarditis. Focal segmental glomerulosclerosis (FSGS had been reported in NS in conjunction with MFS without confirming the diagnosis by mutational analysis of FBN1. We hereby present an Egyptian family with MFS documented at the molecular level; it showed a male proband with NS secondary to FSGS, unfortunately, we failed to make any causal link between FBN dysfunction and FSGS. In this context, we review the spectrum of renal involvements occurring in MFS patients.

  18. Facial Canal Dehiscence in Patients with Chronic Otitis Surgery

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    Ahmet Uluat

    2016-04-01

    Full Text Available Aim: To examine facial canal status in patients with chronic otitis media (COM surgery and to detect the relation between facial canals dehiscence (FCD with middle ear pathology in these patients. Material and Method: The surgery data of patients who were subjected to tympanoplasty with or without mastoidectomy and radical mastoidectomy due to COM were analyzed retrospectively from January 2006 to December 2012. In addition to demonstrative data of the patients, status of facial canal and preoperative diagnoses of patients, type of the operation performed, status of middle ear, number of surgeries, existence of cholesteatoma, existence of ossicular chain defect, lateral canal defect and dura defect were assessed and the relation thereof with facial canal dehiscence (FCD was analyzed statistically. Results: Seven hundred ninety six patients were included in the study. FCD was detected in 10.05% of the patients. FCD was most frequently observed in the tympanic segment. It was found out that there was a statistically significant relationship of middle ear pathology, cholesteatoma, revision surgery, lateral semicircular canal and ossicular chain defect with FCD. Discussion: COM diagnosed patients may have defect in facial canal according to their preoperative diagnoses, middle ear pathologies, number of operations and ossicular chain defects. These patients should be applied a more careful surgery and closely followed up in postoperative periods.

  19. Ciliary Abnormalities Due to Defects in the Retrograde Transport Protein DYNC2H1 in Short-Rib Polydactyly Syndrome

    OpenAIRE

    Merrill, Amy E.; Merriman, Barry; Farrington-Rock, Claire; CAMACHO, NATALIA; Sebald, Eiman T.; Funari, Vincent A.; Schibler, Matthew J.; Firestein, Marc H.; Cohn, Zachary A; Priore, Mary Ann; Thompson, Alicia K.; Rimoin, David L.; Nelson, Stanley F.; Cohn, Daniel H.; Krakow, Deborah

    2009-01-01

    The short-rib polydactyly (SRP) syndromes are a heterogenous group of perinatal lethal skeletal disorders with polydactyly and multisystem organ abnormalities. Homozygosity by descent mapping in a consanguineous SRP family identified a genomic region that contained DYNC2H1, a cytoplasmic dynein involved in retrograde transport in the cilium. Affected individuals in the family were homozygous for an exon 12 missense mutation that predicted the amino acid substitution R587C. Compound heterozygo...

  20. Protein causes hyperinsulinemia: a Chinese patient with hyperinsulinism/hyperammonaemia syndrome due to a glutamate dehydrogenase gene mutation

    Institute of Scientific and Technical Information of China (English)

    CHEN Shi; XIAO Xin-hua; DIAO Cheng-ming; TONG An-li; WANG Ou; QIU Zheng-qing; YU Kang; WANG Tong

    2010-01-01

    @@ Glucose is derived from three sources: intestinal absorption, glycogenolysis, and gluconeogenesis. Hypoglycemia in child is often attributed to depletion of glycogen stores. However, recently, congenital hyperinsulinism becomes an important cause of hypoglycaemia in early infancy. Mutations in the genes encoding SUR1 and KIR6.2 are the most frequent genetic causes of hyperinsulinism followed by mutations in the glutamate dehydrogenase (GDH) gene which encodes hyperinsulinism/hyperammonaemia (HI/HA) syndrome.

  1. Comparing effects of Beractant and Poractant alfa in decreasing mortality rate due to respiratory distress syndrome in premature infants

    Directory of Open Access Journals (Sweden)

    Saeidi R

    2011-02-01

    Full Text Available "nBackground: Exogenous natural and synthetic surfactants is a rescue treatment for respiratory distress syndrome (RDS. The goals of the study were to compare the clinical response and side-effects of two frequently used surfactants, poractant alfa (Curosurf and beractant (Survanta, for the treatment of respiratory distress syndrome in preterm infants."n "nMethods: This clinical trial study was performed during a two-year period in the Neonatal Intensive Care Unit of Ghaem Hospital in Mashhad, Iran. Sample size calculated by a 95% confidence and power of 80, included 104 premature neonates, 74 in survanta and 30 in curosurf groups. The level of statistical significance was considered to be < 0.05."n "nResults: There were no statistically significant differences between the infants treated by survanta or cursurf groups regarding their mean gestational age (30.58 Vs. 29.00 weeks and birth weight (1388 Vs. 1330 g, (p=0.3 There were also no significant differences between the two groups regarding incidences of broncho- pulmonary dysplasia (BPD (40.5% Vs. 40%, intraventricular hemorrhage (IVH grades III/IV (13.5% Vs. 13.3%, pneumothorax (both 20%, patent ductus arteriosus (PDA (28/3% Vs. 20% or death (28% Vs. 26.6% on the 28th day postpartum."n "nConclusion: This study showed that survanta and curosurf had similar therapeutic effects in the treatment of neonatal respiratory distress syndrome.

  2. Controversy at Love Canal.

    Science.gov (United States)

    Paigen, B

    1982-06-01

    A cancer researcher reviews the events surrounding the toxic waste contamination at Love Canal with emphasis on the political nature of the controversy about its health impact. Antagonism between the community and the New York State Department of Health was fueled by several factors: the state's awareness that it gained from delay in investigation, disagreement on health problems to be studied, control over the information gathering process, silencing of opposition opinion, and the violation of norms of scientific behavior. The author calls for the establishment of standards of ethical behavior for scientists in such situations, standards for conflict resolution, and means of appeal for those injured.

  3. A 22-Week-Old Fetus with Nager Syndrome and Congenital Diaphragmatic Hernia due to a Novel SF3B4 Mutation.

    Science.gov (United States)

    Castori, Marco; Bottillo, Irene; D'Angelantonio, Daniela; Morlino, Silvia; De Bernardo, Carmelilia; Scassellati Sforzolini, Giovanna; Silvestri, Evelina; Grammatico, Paola

    2014-08-01

    Nager syndrome, or acrofacial dysostosis type 1 (AFD1), is a rare multiple malformation syndrome characterized by hypoplasia of first and second branchial arches derivatives and appendicular anomalies with variable involvement of the radial/axial ray. In 2012, AFD1 has been associated with dominant mutations in SF3B4. We report a 22-week-old fetus with AFD1 associated with diaphragmatic hernia due to a previously unreported SF3B4 mutation (c.35-2A>G). Defective diaphragmatic development is a rare manifestation in AFD1 as it is described in only 2 previous cases, with molecular confirmation in 1 of them. Our molecular finding adds a novel pathogenic splicing variant to the SF3B4 mutational spectrum and contributes to defining its prenatal/fetal phenotype.

  4. Spinal canal stenosis; Spinalkanalstenose

    Energy Technology Data Exchange (ETDEWEB)

    Papanagiotou, P.; Boutchakova, M. [Klinikum Bremen-Mitte/Bremen-Ost, Klinik fuer Diagnostische und Interventionelle Neuroradiologie, Bremen (Germany)

    2014-11-15

    Spinal stenosis is a narrowing of the spinal canal by a combination of bone and soft tissues, which can lead to mechanical compression of spinal nerve roots or the dural sac. The lumbal spinal compression of these nerve roots can be symptomatic, resulting in weakness, reflex alterations, gait disturbances, bowel or bladder dysfunction, motor and sensory changes, radicular pain or atypical leg pain and neurogenic claudication. The anatomical presence of spinal canal stenosis is confirmed radiologically with computerized tomography, myelography or magnetic resonance imaging and play a decisive role in optimal patient-oriented therapy decision-making. (orig.) [German] Die Spinalkanalstenose ist eine umschriebene, knoechern-ligamentaer bedingte Einengung des Spinalkanals, die zur Kompression der Nervenwurzeln oder des Duralsacks fuehren kann. Die lumbale Spinalkanalstenose manifestiert sich klinisch als Komplex aus Rueckenschmerzen sowie sensiblen und motorischen neurologischen Ausfaellen, die in der Regel belastungsabhaengig sind (Claudicatio spinalis). Die bildgebende Diagnostik mittels Magnetresonanztomographie, Computertomographie und Myelographie spielt eine entscheidende Rolle bei der optimalen patientenbezogenen Therapieentscheidung. (orig.)

  5. Dental phenotype in Jalili syndrome due to a c.1312 dupC homozygous mutation in the CNNM4 gene.

    Directory of Open Access Journals (Sweden)

    Hans U Luder

    Full Text Available Jalili syndrome denotes a recessively inherited combination of an eye disease (cone-rod dystrophy and a dental disorder (amelogenesis imperfecta, which is caused by mutations in the CNNM4 gene. Whereas the ophthalmic consequences of these mutations have been studied comprehensively, the dental phenotype has obtained less attention. A defective transport of magnesium ions by the photoreceptors of the retina is assumed to account for the progressive visual impairment. Since magnesium is also incorporated in the mineral of dental hard tissues, we hypothesized that magnesium concentrations in defective enamel resulting from mutations in CNNM4 would be abnormal, if a similar deficiency of magnesium transport also accounted for the amelogenesis imperfecta. Thus, a detailed analysis of the dental hard tissues was performed in two boys of Kosovan origin affected by Jalili syndrome. Retinal dystrophy of the patients was diagnosed by a comprehensive eye examination and full-field electroretinography. A mutational analysis revealed a c.1312 dupC homozygous mutation in CNNM4, a genetic defect which had already been identified in other Kosovan families and putatively results in loss-of-function of the protein. The evaluation of six primary teeth using light and scanning electron microscopy as well as energy-dispersive X-ray spectroscopy showed that dental enamel was thin and deficient in mineral, suggesting a hypoplastic/hypomineralized type of amelogenesis imperfecta. The reduced mineral density of enamel was accompanied by decreased amounts of calcium, but significantly elevated levels of magnesium. In dentin, however, a similar mineral deficiency was associated with reduced magnesium and normal calcium levels. It is concluded that the c.1312 dupC mutation of CNNM4 results in mineralization defects of both enamel and dentin, which are associated with significantly abnormal magnesium concentrations. Thus, we could not disprove the hypothesis that a

  6. Steven′s Johnson syndrome with toxic epidermal necrolysis due to thalidomide in a case of multiple myeloma

    Directory of Open Access Journals (Sweden)

    Anupam Das

    2014-01-01

    Full Text Available Thalidomide developed in 1954 for morning sickness had proven to be a teratogen and hence was withdrawn from market. Resurgence of thalidomide began as an immunomodulator when it was shown to be effective in the management of multiple myeloma and many conditions like erythema nodosum leprosum, graft versus host disease, recurrent aphthous ulcers etc. We report a case of Stevens Johnson syndrome-toxic epidermal necrolysis developing in an elderly male who was prescribed thalidomide after being diagnosed with multiple myeloma.

  7. A case of psychosis due to Fahr's syndrome and response to behavioral disturbances with risperidone and oxcarbazepine

    Science.gov (United States)

    Faye, Abhijeet Dhawalram; Gawande, Sushil; Tadke, Rahul; Kirpekar, Vivek C.; Bhave, Sudhir H.

    2014-01-01

    Calcification of basal ganglia or Fahr's syndrome is a rare disease characterized by bilateral and symmetrical intracranial deposition of calcium mainly in cerebral basal ganglia. Motor and neuropsychiatric symptoms are prominent features. We report a case presented with a few motor symptoms, features of delirium and prominent psychiatric symptoms (disorganized behavior) predominantly evident after the improvement in delirium. Radiological findings were suggestive of bilateral basal ganglia calcification. Parathyroid hormone levels were low with no significant findings in other investigations and negative family history. Patient showed significant improvement in behavioral disturbances with risperidone, low dose of lorazepam, oxcarbazepine, and memantine. PMID:24891710

  8. Apert Syndrome.

    Science.gov (United States)

    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.

  9. Repeated renal infarction in native and transplanted kidneys due to left ventricular thrombus formation caused by antiphospholipid antibody syndrome

    Directory of Open Access Journals (Sweden)

    Scully P

    2013-01-01

    Full Text Available Paul Scully,1 Daniel C Leckstroem,1 Andrew McGrath,2 John Chambers,3 David J Goldsmith11Nephrology Department, 2Radiology Department, 3Cardiology Department, King's Health Partners, Academic Health Sciences Centre, London, United KingdomAbstract: Antiphospholipid syndrome can be a feature of several underlying conditions, such as lupus, but it can also occur idiopathically. Diagnosis usually comes after investigation of recurrent venous or arterial thromboses, emboli, or hypertension/proteinuria where the kidney is involved and is usually confirmed by laboratory testing. We describe a case of a man with a myocardial infarction who developed mural thrombus in an akinetic left ventricular segment but then who recurrently embolized first to one of his native kidneys and then later to a transplanted kidney. Although the clinical behavior was typical of antiphospholipid syndrome, it took numerous laboratory assays over many years until finally the problem was confirmed and life-long warfarin therapy instituted.Keywords: antiphospholipid therapy, emboli, infarction, kidney, kidney transplant

  10. Carpal tunnel syndrome due to an atypical deep soft tissue leiomyoma: The risk of misdiagnosis and mismanagement

    Directory of Open Access Journals (Sweden)

    Dimitriou Christos G

    2007-08-01

    Full Text Available Abstract Background Leiomyomas of the deep soft tissue are quite uncommon and occur even more rarely in upper extremity. Case presentation A 32-year old manual laborer man presented with a two-year history of numbness, tingling and burning pain in the palmar surface of the left hand and fingers. His medical history was unremarkable and no trauma episode was reported. According to the clinical examination and the result of median nerve conduction study (NCS the diagnosis of carpal tunnel syndrome was established. Operative release of the transverse carpal ligament was subsequently performed but the patient experienced only temporary relief of his symptoms. MRI examination revealed a deep palmary located mass with well-defined margins and ovoid shape. Intraoperatively, the tumor was in continuity with the flexor digitorum superficialis tendon of the middle finger causing substantial compression to median nerve. Histopathological findings of the resected mass were consistent with leiomyoma. After two years the patient was pain-free without signs of tumor recurrence. Conclusion Despite the fact that reports on deep soft tissue leiomyoma are exceptional, this tumor had to be considered as differential diagnosis in painful non-traumatic hand syndromes especially in young patients.

  11. Successful Salvage of a Renal Allograft after Acute Renal Vein Thrombosis due to May-Thurner Syndrome

    Directory of Open Access Journals (Sweden)

    Omkar U. Vaidya

    2012-01-01

    Full Text Available A 68-year-old Caucasian female with a past medical history of a deceased donor kidney transplant four months prior was admitted with a two-day history of anuria and acute kidney injury. A renal ultrasound demonstrated thrombus in the transplanted kidney's renal vein that extended into the left iliac vein as well as into the left femoral venous system. Catheter-guided tissue thrombolytics were infused directly into the clot. Within twelve hours of initiating thrombolytic infusion, there was brisk urine output. Interval venography demonstrated decreasing clot burden. At the time of discharge her creatinine was 0.78 mg/dL, similar to her baseline value prior to presentation. The patient was noted to have May-Thurner syndrome on intravascular ultrasound (IVUS. Angioplasty followed by stent placement was done. Unique to our case report was the timing of the presentation of renal vein thrombosis (four months after transplant and the predisposing anatomy consistent with May-Thurner syndrome, which was diagnosed with IVUS and successfully treated with local thrombolytics.

  12. Digital flexion contracture and severe carpal tunnel syndrome due to tophaceus infiltration of wrist flexor tendon: first manifestation of gout.

    Science.gov (United States)

    Hernández-Cortés, P; Caba, M; Gómez-Sánchez, R; Gómez-Morales, M

    2011-11-09

    The authors report an unusual case of flexor tenosynovitis, severe carpal tunnel syndrome, and triggering at the carpal tunnel as the first manifestation of gout. A 69-year-old man presented with digital flexion contracture and severe carpal tunnel syndrome of his right hand and was treated surgically. A flexor tenosynovectomy and a median nerve neurolysis were performed through an extended carpal tunnel approach. The sublimis and the profundus tendons were involved. Partial ruptures and multiple whitish lesions suggestive of tophacceous infiltration of the flexor tendons were seen. Macroscopically, the removed synovial tissue was involved by multiple whitish nodules that were milimetric in size and was suggestive of monosodium urate crystals deposits. By light microscopy examination, numerous nonnecrotizing granulomas of different sizes were observed that were compounded by large aggregations of acellular nonpolarized material, surrounded by epithelioid histiocytes, mononuclear cells, and foreign body multinucleated giant cells. Postoperatively, the patient recovered with resolution of the median nerve symptoms and a near-to-full range of motion of the affected digits.To the authors' knowledge, this patient is the first case report with flexor tendons tophacceous infiltration as the first clinical sign of gout. Gouty flexor tenosynovitis can occur in the absence of a long history of gout. A high index of suspicion is paramount to the initiation of proper management. Operative treatment of gouty flexor tenosynovitis is mandatory to debulk tophaceous deposits, improve tendon gliding, and decompress nerves. Routine uric acid determination could be helpful in the preoperative evaluation of patients with flexor tenosynovitis.

  13. Hypopituitarism in a patient with Beckwith-Wiedemann syndrome due to hypomethylation of KvDMR1.

    Science.gov (United States)

    Baiocchi, Michela; Yousuf, Fatimah Sireen; Hussain, Khalid

    2014-04-01

    Beckwith-Wiedemann syndrome (BWS) is caused by dysregulation of imprinted genes on chromosome 11.p15.5. The syndrome includes overgrowth, macroglossia, organomegaly, abdominal wall defects, hypoglycemia, and long-term malignancy risk. No patient who has BWS has been reported with hypopituitarism. We describe a patient who presented at birth with macrosomia, macroglossia, respiratory distress, jaundice, and hypoglycemia, and who was followed for 4.5 years. Genetic test for BWS was performed, which detected loss of maternal methylation on region KvDMR1 (11p15.5). The hypoglycemia was attributable to hyperinsulinism and was treated with diazoxide and chlorothiazide. She responded well, but the hypoglycemia returned after reducing the diazoxide. It was possible to stop the diazoxide after 2.5 years. On routine follow-up she was noted to be developing short stature. Baseline pituitary and growth hormone (GH) stimulation tests detected GH deficiency and secondary hypothyroidism. A brain MRI showed a small anterior pituitary gland. Thereafter, thyroxine and replacement therapy with GH were started, which resulted in a remarkable improvement in growth velocity. This is the first patient to be reported as having hypopituitarism and BWS. It is unclear if the BWS and the hypopituitarism are somehow connected; however, further investigations are necessary. Hypopituitarism explains the protracted hypoglycemia and the short stature. In our patient, GH therapy seems to be safe, but strict follow-up is required given the increased cancer risk related to BWS.

  14. Diagnosis of familial Wolf-Hirschhorn syndrome due to a paternal cryptic chromosomal rearrangement by conventional and molecular cytogenetic techniques.

    Science.gov (United States)

    Venegas-Vega, Carlos A; Fernández-Ramírez, Fernando; Zepeda, Luis M; Nieto-Martínez, Karem; Gómez-Laguna, Laura; Garduño-Zarazúa, Luz M; Berumen, Jaime; Kofman, Susana; Cervantes, Alicia

    2013-01-01

    The use of conventional cytogenetic techniques in combination with fluorescent in situ hybridization (FISH) and single-nucleotide polymorphism (SNP) microarrays is necessary for the identification of cryptic rearrangements in the diagnosis of chromosomal syndromes. We report two siblings, a boy of 9 years and 9 months of age and his 7-years- and 5-month-old sister, with the classic Wolf-Hirschhorn syndrome (WHS) phenotype. Using high-resolution GTG- and NOR-banding karyotypes, as well as FISH analysis, we characterized a pure 4p deletion in both sibs and a balanced rearrangement in their father, consisting in an insertion of 4p material within a nucleolar organizing region of chromosome 15. Copy number variant (CNV) analysis using SNP arrays showed that both siblings have a similar size of 4p deletion (~6.5 Mb). Our results strongly support the need for conventional cytogenetic and FISH analysis, as well as high-density microarray mapping for the optimal characterization of the genetic imbalance in patients with WHS; parents must always be studied for recognizing cryptic balanced chromosomal rearrangements for an adequate genetic counseling.

  15. Diagnosis of Familial Wolf-Hirschhorn Syndrome due to a Paternal Cryptic Chromosomal Rearrangement by Conventional and Molecular Cytogenetic Techniques

    Directory of Open Access Journals (Sweden)

    Carlos A. Venegas-Vega

    2013-01-01

    Full Text Available The use of conventional cytogenetic techniques in combination with fluorescent in situ hybridization (FISH and single-nucleotide polymorphism (SNP microarrays is necessary for the identification of cryptic rearrangements in the diagnosis of chromosomal syndromes. We report two siblings, a boy of 9 years and 9 months of age and his 7-years- and 5-month-old sister, with the classic Wolf-Hirschhorn syndrome (WHS phenotype. Using high-resolution GTG- and NOR-banding karyotypes, as well as FISH analysis, we characterized a pure 4p deletion in both sibs and a balanced rearrangement in their father, consisting in an insertion of 4p material within a nucleolar organizing region of chromosome 15. Copy number variant (CNV analysis using SNP arrays showed that both siblings have a similar size of 4p deletion (~6.5 Mb. Our results strongly support the need for conventional cytogenetic and FISH analysis, as well as high-density microarray mapping for the optimal characterization of the genetic imbalance in patients with WHS; parents must always be studied for recognizing cryptic balanced chromosomal rearrangements for an adequate genetic counseling.

  16. Middle and inner ear malformations in mutation-proven branchio-oculo-facial (BOF) syndrome: case series and review of the literature.

    Science.gov (United States)

    Carter, Melissa T; Blaser, Susan; Papsin, Blake; Meschino, Wendy; Reardon, Willie; Klatt, Regan; Babul-Hirji, Riyana; Milunsky, Jeff; Chitayat, David

    2012-08-01

    Hearing impairment is common in individuals with branchio-oculo-facial (BOF) syndrome. The majority of described individuals have conductive hearing impairment due to malformed ossicles and/or external canal stenosis or atresia, although a sensorineural component to the hearing impairment in BOF syndrome is increasingly being reported. Sophisticated computed tomography (CT) of the temporal bone has revealed middle and inner ear malformations in three previous reports. We present middle and inner ear abnormalities in three additional individuals with mutation-proven BOF syndrome. We suggest that temporal bone CT imaging be included in the medical workup of a child with BOF syndrome, in order to guide management.

  17. Complete occipitalization of the atlas with bilateral external auditory canal atresia.

    Science.gov (United States)

    Dolenšek, Janez; Cvetko, Erika; Snoj, Žiga; Meznaric, Marija

    2017-02-18

    Fusion of the atlas with the occipital bone is a rare congenital dysplasia known as occipitalization of the atlas, occipitocervical synostosis, assimilation of the atlas, or atlanto-occipital fusion. It is a component of the paraxial mesodermal maldevelopment and commonly associated with other dysplasias of the craniovertebral junction. External auditory canal atresia or external aural atresia is a rare congenital absence of the external auditory canal. It occurs as the consequence of the maldevelopment of the first pharyngeal cleft due to defects of cranial neural crest cells migration and/or differentiation. It is commonly associated with the dysplasias of the structures derived from the first and second pharyngeal arches including microtia. We present the coexistence of the occipitalization of the atlas and congenital aural atresia, an uncommon combination of the paraxial mesodermal maldevelopment, and defects of cranial neural crest cells. The association is most probably syndromic as minimal diagnostic criteria for the oculoariculovertebral spectrum are fulfilled. From the clinical point of view, it is important to be aware that patients with microtia must obtain also appropriate diagnostic imaging studies of the craniovetebral junction due to eventual concomitant occipitalization of the atlas and frequently associated C1-C2 instability.

  18. Peripartum cardiomyopathy presenting with syncope due to Torsades de pointes: a case of long QT syndrome with a novel KCNH2 mutation.

    Science.gov (United States)

    Nishimoto, Orie; Matsuda, Morihiro; Nakamoto, Kei; Nishiyama, Hirohiko; Kuraoka, Kazuya; Taniyama, Kiyomi; Tamura, Ritsu; Shimizu, Wataru; Kawamoto, Toshiharu

    2012-01-01

    Peripartum cardiomyopathy (PPCM) is a cardiomyopathy of unknown cause that occurs in the peripartum period. We report a case of PPCM presenting with syncope 1 month after an uncomplicated delivery. Electrocardiography showed Torsades de pointes (TdP) and QT interval prolongation. Echocardiography showed left ventricular systolic dysfunction and endomyocardial biopsy showed myocyte degeneration and fibrosis. Administration of magnesium sulfate and temporary pacing eliminated recurrent TdP. Genetic analyses revealed that recurrent TdP occurred via electrolyte disturbance and cardiac failure due to PPCM on the basis of a novel mutation in KCNH2, a gene responsible for inherited type 2 long QT syndrome.

  19. Repeated lung lavage with extracorporeal membrane oxygenation treating severe acute respiratory distress syndrome due to nasogastric tube malposition for enternal nutrition: a case report.

    Science.gov (United States)

    Kao, Xiaoming; Yu, Wenkui; Zhu, Weiming; Li, Ning; Li, Jieshou

    2012-01-01

    Enternal nutritional support, a frequently applied technique for providing nutrition and energy, played a pivotal role in the treatment of high risk patients. However, severe complications induced by malposition of nasogastric tube caused great danger and even death to the patients. In this case report, we present a patient with severe acute respiratory distress syndrome (ARDS) induced by bronchopleural fistula (BPF) due to malposition of nasogastric tube. Repeated lung lavage combined with extracorporeal membrane oxygenation (ECMO) was performed after transferring to the ICU of our hospital. Finally, the patient recovered and discharged 7 days after admission.

  20. Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence in siblings due to gonadal mosaicism.

    Science.gov (United States)

    Gigante, Laura; Paganini, Irene; Frontali, Marina; Ciabattoni, Serena; Sangiuolo, Federica Carla; Papi, Laura

    2016-01-01

    Rhabdoid tumors are aggressive malignancies that show loss-of-function mutations of SMARCB1 gene, a member of the SWI/SNF chromatin-remodeling complex controlling gene transcription. One-third of patients affected by rhabdoid tumor harbor a germ-line mutation of SMARCB1 defining a rhabdoid tumor predisposition syndrome. The occurrence of a second somatic mutation determines the development of neoplasia in a two-hit model. Most germ-line mutations occur de novo, and few cases of recurrence in a sibship have been described. Here we report on a new Italian family with recurrence of SMARCB1 germ-line deletion in two siblings due to gonadal mosaicism. The deletion was identified in the 9-month-old proband with malignant rhabdoid tumor of the right kidney and disseminated metastases. Testing of both parents confirmed the de novo origin of the mutation, but recurrence was then detected prenatally in a new pregnancy. This is the sixth family with malignant rhabdoid tumor predisposition syndrome with the recurrence of the same germ-line SMARCB1 mutation in the sibship but not in healthy parents, suggesting that gonadal mosaicism is a less rare event than supposed. The clinical outcome in our patient confirms previous data of poorer outcome in patients with rhabdoid tumor predisposition syndrome.

  1. A comparative study of verbal IQ, performance IQ and verbal IQ-performance IQ disparity among Turner syndrome patients and patients with primary amenorrhoea due to other aetiologies

    Directory of Open Access Journals (Sweden)

    Rahul Lakshman

    2012-12-01

    Full Text Available Background: Assessing disparity in IQ is important in selecting an occupation and thus helping people lead a productive life. In Turner syndrome patients, this shall be more important as assessment of verbal IQ- and performance IQ disparity could be used in helping them select an occupation so that productivity and quality of life is not grossly compromised. Methods: Based on karyotyping, 30 patients with turner syndrome and 30 patients with primary amenorrhoea due to other aetiologies were selected for the study. Cytogenetic analysis was done for every case using G-banding technique. Assessment of intellectual functions was done using Wechsler Adult Intelligence Scale (WAIS. Results: Mean value of PIQ of X0 (turner was 74.67 and that of XX (other amenorrhoea patients was 90.30. Mean value of VIQ of X0 (turner was 93.67 and that of XX (other amenorrhoea patients was 93.60. Mean value of VIQ and PIQ disparity of X0 (turner was 18.67 and that of XX (other amenorrhoea patients was 3. Conclusions: Turner syndrome patients have high VIQ-PIQ disparity when compared to other primary amenorrhoea patients. [Int J Reprod Contracept Obstet Gynecol 2012; 1(1.000: 22-25

  2. Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome.

    Science.gov (United States)

    Merrill, Amy E; Merriman, Barry; Farrington-Rock, Claire; Camacho, Natalia; Sebald, Eiman T; Funari, Vincent A; Schibler, Matthew J; Firestein, Marc H; Cohn, Zachary A; Priore, Mary Ann; Thompson, Alicia K; Rimoin, David L; Nelson, Stanley F; Cohn, Daniel H; Krakow, Deborah

    2009-04-01

    The short-rib polydactyly (SRP) syndromes are a heterogeneous group of perinatal lethal skeletal disorders with polydactyly and multisystem organ abnormalities. Homozygosity by descent mapping in a consanguineous SRP family identified a genomic region that contained DYNC2H1, a cytoplasmic dynein involved in retrograde transport in the cilium. Affected individuals in the family were homozygous for an exon 12 missense mutation that predicted the amino acid substitution R587C. Compound heterozygosity for one missense and one null mutation was identified in two additional nonconsanguineous SRP families. Cultured chondrocytes from affected individuals showed morphologically abnormal, shortened cilia. In addition, the chondrocytes showed abnormal cytoskeletal microtubule architecture, implicating an altered microtubule network as part of the disease process. These findings establish SRP as a cilia disorder and demonstrate that DYNC2H1 is essential for skeletogenesis and growth.

  3. Orthopedic symptoms in pustular bacterid (pustulosis palmaris et plantaris): Tietze's syndrome and arthritis of manubriosternal joint due to focal infection.

    Science.gov (United States)

    Ishibashi, A; Nishiyama, Y; Endo, M; Kawaji, W; Kato, T

    1977-04-01

    Painful orthopedic symptoms in the sternal area, such as arthritis of the manubriosternal and sternoclavicular joint or Tietze's syndrome, were found in 14 of 132 cases of pustulosis palmaris et plantaris. The majority of the pustulosis palmaris et plantaris patients with orthopedic symptoms had skin eruptions not only on the palms and soles, but also on the backs of the hands and feet, the arms, the legs and the trunk. Such cases were usually accompanied by elevation of the erythrocyte sedimentation rate, leucocytosis, changes in serum globulin, and also pyrexia at the time of exacerbation. The skin and orthopedic symptoms often worsened after acute exacerbation of the focal infection, and occasionally responded to tonsillectomy or chemotherapy with antibiotics, which is suggestive of the probable cause of the bacterid.

  4. Dravet syndrome with favourable cognitive and behavioral development due to a novel SCN1A frameshift mutation.

    Science.gov (United States)

    Jiang, Peifang; Shen, Jue; Yu, Yonglin; Jiang, Lihua; Xu, Jialu; Xu, Lu; Yu, Huimin; Gao, Feng

    2016-07-01

    Children with Dravet syndrome (DS) often have severe cognitive, behaviour and motor impairments. Patients with truncating mutations would logically have the more severe phenotype. Here we present a case of DS with an unusually favourable cognitive and behavioral development with a novel SCN1A frameshift mutation (c.4233-4234insAT). Under regular following up for ten years, the patient had normal expressive language and mild motor clumsiness. It is suggested that besides the type of SCN1A mutation, other mechanisms may be existed to influence the SCN1A phenotype, such as modifier genes, developmental variability, accumulation of somatic mutation in lifetime and environmental insults can all contribute to the cognitive and behavioral outcome.

  5. Congenital immunodeficiency in an individual with Wiedemann-Steiner syndrome due to a novel missense mutation in KMT2A.

    Science.gov (United States)

    Stellacci, Emilia; Onesimo, Roberta; Bruselles, Alessandro; Pizzi, Simone; Battaglia, Domenica; Leoni, Chiara; Zampino, Giuseppe; Tartaglia, Marco

    2016-09-01

    Wiedemann-Steiner Syndrome (WSS) is an autosomal dominant disorder characterized by hypertrichosis, short stature, intellectual disability, developmental delay, and facial dysmorphism. Since the original reports by Wiedemann and co-workers, and Steiner and Marques, only a few cases have been described. Recently, the clinical variability of the disorder has more precisely been characterized by Jones and co-workers, who also identified heterozygous KMT2A mutations as the molecular defect underlying this condition. Here, we report on a boy with a complex phenotype overlapping WSS but exhibiting epilepsy, feeding difficulties, microcephaly, and congenital immunodeficiency with low levels of immunoglobulins as additional features. Whole exome sequencing allowed identifying a previously unreported de novo KMT2A missense mutation affecting the DNA binding domain of the methyltransferase. This finding expands the clinical phenotype associated with KMT2A mutations to include immunodeficiency and epilepsy as clinically relevant features for this disorder. © 2016 Wiley Periodicals, Inc.

  6. Persistent congenital hyperinsulinism in two patients with Beckwith-Wiedemann syndrome due to mosaic uniparental disomy 11p.

    Science.gov (United States)

    Zarate, Yuri A; Shur, Natasha; Robin, Andrew; Garnica, Adolfo D; Quintos, Jose Bernardo; Schaefer, G Bradley

    2014-09-01

    Congenital hyperinsulinism (CHI) is a rare metabolic disease characterized by inappropriate insulin secretion in the presence of hypoglycemia. We describe the clinical presentation and management of congenital hyperinsulinism and persistent hypoglycemia in two infants. Both patients had an initial clinical diagnosis of Beckwith-Wiedemann syndrome (BWS) but normal methylation analysis for LIT1 and H19 status. Both patients were eventually found to have mosaic uniparental disomy 11p diagnosed by single nucleotide polymorphism (SNP) array in DNA isolated from lymphoblasts and fibroblasts, respectively. We report that patients with mosaic BWS are at increased risk for both transient and refractory hypoglycemia that may need aggressive management with diazoxide, octreotide, high glucose infusion rates, and a frequent feeding regime. Our patient experience supports the case for pursuing further testing in patients with features of BWS with normal methylation studies, karyotype, and SNP arrays on blood. The next logical step is SNP array on skin biopsy to rule out mosaicism.

  7. Accelerated inactivation of the L-type calcium current due to a mutation in CACNB2b underlies Brugada syndrome

    DEFF Research Database (Denmark)

    Cordeiro, Jonathan M; Marieb, Mark; Pfeiffer, Ryan

    2009-01-01

    Recent studies have demonstrated an association between mutations in CACNA1c or CACNB2b and Brugada syndrome (BrS). Previously described mutations all caused a loss of function secondary to a reduction of peak calcium current (I(Ca)). We describe a novel CACNB2b mutation associated with Br...... revealed brief episodes of very rapid ventricular tachycardia. He was also diagnosed with vasovagal syncope. Genomic DNA was isolated from lymphocytes. All exons and intron borders of 15 ion channel genes were amplified and sequenced. The only mutation uncovered was a missense mutation (T11I) in CACNB2b...... that the faster current decay results in a loss-of-function responsible for the Brugada phenotype...

  8. Crouzon’s Syndrome with Life-Threatening Ear Bleed: Ruptured Jugular Vein Diverticulum Treated by Endovascular Embolization

    Energy Technology Data Exchange (ETDEWEB)

    Mondel, Prabath Kumar, E-mail: prabathmondel@gmail.com; Anand, Sunanda, E-mail: sunandaanand@gmail.com; Limaye, Uday S., E-mail: uslkem@gmail.com [Lilavati Hospital and Research Centre, Department of Interventional Neuroradiology (India)

    2015-08-15

    Crouzon’s syndrome is the commonest variety of syndromic craniosynostosis. Life-threatening ear bleed due to ruptured jugular venous diverticulum in Crouzon’s syndrome has not been described previously. In patients with syndromic craniosynostosis, definitive repair of jugular diverticulum by open surgery is fraught with high risk of bleeding, poor functional outcomes, and even death. A 24-year-old woman with Crouzon’s syndrome presented with conductive hearing loss and recurrent episodes of torrential bleeding from her left ear. On computed tomography, a defect in the roof of jugular fossa containing jugular venous diverticulum immediately inferior to the bony external auditory canal was seen. The clinical presentation, imaging features, and endovascular management of Crouzon’s syndrome due to a ruptured jugular venous diverticulum is described.

  9. Hood Canal Steelhead - Hood Canal Steelhead Supplementation Experiment

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — The Hood Canal Steelhead Project is a 17-year before-after-control-impact experiment that tests the effects of supplementation on natural steelhead populations in...

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

    OpenAIRE

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

    2008-01-01

    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-...

  11. CT findings of the osteoma of the external auditory canal

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Ha Young; Song, Chang Joon; Yoon, Chung Dae; Park, Mi Hyun; Shin, Byung Seok [Chungnam National University, School of Medicine, Daejeon (Korea, Republic of)

    2006-07-15

    We wanted to report the CT image findings of the osteoma of the external auditory canal. Temporal bone CT scanning was performed on eight patients (4 males and 4 females aged between 8 and 41 years) with pathologically proven osteoma of the external auditory canal after operation, and the findings of the CT scanning were retrospectively reviewed. Not only did we analyze the size, shape, distribution and location of the osteomas, we also analyzed the relationship between the lesion and the tympanosqumaous or tympanomastoid suture line, and the changes seen on the CT scan images for the patients who were able to undergo follow-up. All the lesions of the osteoma of the external auditory canal were unilateral, solitary, pedunculated bony masses. In five patients, the osteomas occurred on the left side and for the other three patients, the osteomas occurred on the right side. The average size of the osteoma was 0.6 cm with the smallest being 0.5 cm and the largest being 1.2 cm. Each of the lesions was located at the osteochondral junction in the terminal part of the osseous external ear canal. The stalk of the osteoma of the external auditory canal was found to have occurred in the anteroinferior wall in five cases (63%), in the anterosuperior wall (the tympanosqumaous suture line) in two cases (25%), and in the anterior wall in one case. The osteoma of the external auditory canal was a compact form in five cases and it was a cancellous form in three cases. One case of the cancellous form was changed into a compact form 35 months later due to the advanced ossification. Osteoma of the external auditory canal developed in a unilateral and solitary fashion. The characteristic image findings show that it is attached to the external auditory canal by its stalk. Unlike our common knowledge about its occurrence, osteoma mostly occurred in the tympanic wall, and this is regardless of the tympanosquamous or tympanomastoid suture line.

  12. Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome.

    Science.gov (United States)

    Melo, Uirá S; Macedo-Souza, Lucia I; Figueiredo, Thalita; Muotri, Alysson R; Gleeson, Joseph G; Coux, Gabriela; Armas, Pablo; Calcaterra, Nora B; Kitajima, João P; Amorim, Simone; Olávio, Thiago R; Griesi-Oliveira, Karina; Coatti, Giuliana C; Rocha, Clarissa R R; Martins-Pinheiro, Marinalva; Menck, Carlos F M; Zaki, Maha S; Kok, Fernando; Zatz, Mayana; Santos, Silvana

    2015-12-15

    SPOAN syndrome is a neurodegenerative disorder mainly characterized by spastic paraplegia, optic atrophy and neuropathy (SPOAN). Affected patients are wheelchair bound after 15 years old, with progressive joint contractures and spine deformities. SPOAN patients also have sub normal vision secondary to apparently non-progressive congenital optic atrophy. A potential causative gene was mapped at 11q13 ten years ago. Here we performed next-generation sequencing in SPOAN-derived samples. While whole-exome sequencing failed to identify the causative mutation, whole-genome sequencing allowed to detect a homozygous 216-bp deletion (chr11.hg19:g.66,024,557_66,024,773del) located at the non-coding upstream region of the KLC2 gene. Expression assays performed with patient's fibroblasts and motor neurons derived from SPOAN patients showed KLC2 overexpression. Luciferase assay in constructs with 216-bp deletion confirmed the overexpression of gene reporter, varying from 48 to 74%, as compared with wild-type. Knockdown and overexpression of klc2 in Danio rerio revealed mild to severe curly-tail phenotype, which is suggestive of a neuromuscular disorder. Overexpression of a gene caused by a small deletion in the non-coding region is a novel mechanism, which to the best of our knowledge, was never reported before in a recessive condition. Although the molecular mechanism of KLC2 up-regulation still remains to be uncovered, such example adds to the importance of non-coding regions in human pathology.

  13. [A case of anaphylaxis due to rose-flavored soft-serve ice cream with pollen food allergy syndrome].

    Science.gov (United States)

    Kitabayashi, Taeru; Sato, Sayuri; Adachi, Mitsuru

    2013-05-01

    We experienced a 10-year-old boy who had anaphylaxis after eating rose-flavored soft-serve ice cream. The patient felt a sense of discomfort in his throat when eating apple, peach, loquat, Japanese pear, and kiwi fruit. Therefore, we measured specific IgE antibodies to allergen components by ImmunoCAP ISAC. Consequently, the patient gave positive results for all PR-10 proteins from birch, alder, hazel, apple, peach, peanut, hazelnut, and soybean, so we diagnosed him with Pollen Food Allergy Syndrome (PFAS) induced by cross reactivity with pollens of birch family and fruits of rose family. When we conducted the skin prick test as is for red rose syrup because of the belief that anaphylaxis was caused by the rose ingredient contained in rose-flavored soft-serve ice cream, the patient gave a strong positive result. However, the results were negative for rose essence and Food Red No. 2 contained. Subsequently, it was found that red rose syrup contained apple juice. Therefore, we conducted the prick-prick test for apple, and the patient was confirmed to be strongly positive to apple. We thus identified apple as the cause of anaphylaxis. Since there is no legal obligation of labeling specific raw materials when directly selling manufactured and processed food products to general consumers, it is possible for general consumers to mistakenly take them in without knowing the containment of allergic substances. It is believed that the labeling method should be improved in the future.

  14. Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy

    Energy Technology Data Exchange (ETDEWEB)

    Cassidy, S.B.; Lai, Li-Wen; Erickson, R.P. (Univ. of Arizona College of Medicine, Tucson, AZ (United States)); Magnuson, L.; Thomas, E.; Herrmann, J. (Great Lakes Genetics, Milwaukee, AZ (United States)); Gendron, R. (Great Lakes Genetics, Kingsport, TN (United States))

    1992-10-01

    Uniparental disomy has recently been recognized to cause human disorders, including Prader-Willi syndrome (PWS). The authors describe a particularly instructive case which raises important issues concerning the mechanisms producing uniparental disomy and whose evaluation provides evidence that trisomy may precede uniparental disomy in a fetus. Chorionic villus sampling performed for advanced maternal age revealed trisomy 15 in all direct and cultured cells, though the fetus appeared normal. Chromosome analysis of amniocytes obtained at 15 wk was normal in over 100 cells studied. The child was hypotonic at birth, and high-resolution banding failed to reveal the deletion of 15q11-13, a deletion which is found in 50%-70% of patients with PWS. Over time, typical features of PWS developed. Molecular genetic analysis using probes for chromosome 15 revealed maternal disomy. Maternal nondisjunction with fertilization of a disomic egg by a normal sperm, followed by loss of the paternal 15, is a likely cause of confined placental mosaicism and uniparental disomy in this case of PWS, and advanced maternal age may be a predisposing factor. 38 refs., 3 figs., 2 tabs.

  15. First evidence of Smith-Magenis syndrome in mother and daughter due to a novel RAI mutation.

    Science.gov (United States)

    Acquaviva, Fabio; Sana, Maria Elena; Della Monica, Matteo; Pinelli, Michele; Postorivo, Diana; Fontana, Paolo; Falco, Maria Teresa; Nardone, Anna Maria; Lonardo, Fortunato; Iascone, Maria; Scarano, Gioacchino

    2017-01-01

    Smith-Magenis syndrome (SMS) is a complex genetic disorder caused by interstitial 17p11.2 deletions encompassing multiple genes, including the retinoic acid induced 1 gene-RAI1-or mutations in RAI1 itself. The clinical spectrum includes developmental delay, cognitive impairment, and behavioral abnormalities, with distinctive physical features that become more evident with age. No patients have been reported to have had offspring. We here describe a girl with developmental delay, mainly compromising the speech area, and her mother with mild intellectual disabilities and minor dysmorphic features. Both had sleep disturbance and attention deficit disorder, but no other atypical behaviors have been reported. In both, CGH-array analysis detected a 15q13.3 interstitial duplication, encompassing CHRNA7. However, the same duplication has been observed in several, apparently healthy, maternal relatives. We, thus, performed a whole exome sequencing analysis, which detected a frameshift mutation in RAI1, de novo in the mother, and transmitted to her daughter. No other family members carried this mutation. This is the first report of an SMS patient having offspring. Our experience confirms the importance of searching for alternative causative genetic mechanisms in case of confounding/inconclusive findings such as a CGH-array result of uncertain significance. © 2016 Wiley Periodicals, Inc.

  16. Compartment syndrome like picture in metaphyseal comminuted fracture of tibia treated by locking plate due to tight closure

    Directory of Open Access Journals (Sweden)

    Prafulla Herode

    2013-01-01

    Full Text Available A 22-year-old male came to casualty on 5 th May 2012 after a fall from motorcycle. He complained of excruciating pain and swelling over right knee. There was an open wound of 7 × 2 cm over supra-patellar region and diffuse swelling over knee joint with severe tenderness over proximal aspect of right tibia. X-ray showed intra-articular fracture of proximal tibia extending to diaphysis classified as type 6 by Schatzker classification for proximal tibia, with fibula shaft transverse fracture. The skin over the fracture was contused. Debridement with primary wound closure was done in emergency. Skeletal traction was applied through a lower tibial Steinman pin. Patient was operated after 15 days when wound healed and swelling subsided. Locking plate was applied on medial aspect using Minimally invasive percutaneous plate osteosysthesis (MIPPO technique. Post-operatively over 4 hours patient developed severe pain and swelling in operated leg which mimicked compartment syndrome. Suture removal was done immediately in the ward from the distal aspect, which relieved the symptoms but lead to exposure of the plate. A rotational flap was done to cover the plate in coordination with a plastic surgeon on the next day.

  17. High fasting serum insulin level due to autoantibody interference in insulin immunoassay discloses autoimmune insulin syndrome: a case report.

    Science.gov (United States)

    Lamy, Pierre-Jean; Sault, Corinne; Renard, Eric

    2016-08-01

    Insulin-antibodies are a cause of misleading results in insulin immunoassays. They may also mediate deleterious blood glucose variations. A patient presented with overtiredness, recurrent episodes of sweating, dizziness and fainting fits. A fasting serum insulin assay performed on a Modular platform (Modular analytic E170, Roche Diagnostic, Meylan, France) showed a highly elevated value of 194.7 mIU/L, whereas on the same sample glucose and C-peptide levels were normal. Other immunometric insulin assays were performed, as well as antibodies anti-insulin radiobinding assay (RBA) and gel filtration chromatography (GFC). While complementary insulin assays yielded closer to normal fasting levels, the free insulin concentration assessed after PEG precipitation was 14.0 mIU/L and the RBA was positive. GFC revealed that most of the insulin was complexed with a 150 kDa molecule, corresponding to an immunoglobulin G (IgG). A high fasting serum insulin level in a patient with neuroglucopenic symptoms was related to a high insulin-antibody level, suggesting an insulin autoimmune syndrome.

  18. Concurrent Therapy with a Low-carbohydrate Diet and Miglitol Remarkably Improved the Postprandial Blood Glucose and Insulin Levels in a Patient with Reactive Hypoglycemia due to Late Dumping Syndrome.

    Science.gov (United States)

    Hirose, Sachie; Iwahashi, Yasuyuki; Seo, Akane; Sumiyoshi, Michitaka; Takahashi, Tetsuya; Tamori, Yoshikazu

    2016-01-01

    Reactive hypoglycemia induced by late dumping syndrome is often observed after gastrectomy. However, no effective therapy has yet been fully established. We herein describe a case in which concurrent therapy with a low-carbohydrate diet using low-glycemic-index food and an alpha-glucosidase inhibitor, miglitol, very effectively ameliorated the postprandial fluctuations in the blood glucose and plasma insulin levels in a patient with reactive hypoglycemia due to late dumping syndrome following total gastrectomy. The administration of miglitol under a low-carbohydrate diet using low-glycemic-index food may therefore be an ideal treatment for reactive hypoglycemia due to late dumping syndrome.

  19. Depolarization canals and interstellar turbulence

    CERN Document Server

    Fletcher, A; Fletcher, Andrew; Shukurov, Anvar

    2006-01-01

    Recent radio polarization observations have revealed a plethora of unexpected features in the polarized Galactic radio background that arise from propagation effects in the random (turbulent) interstellar medium. The canals are especially striking among them, a random network of very dark, narrow regions clearly visible in many directions against a bright polarized Galactic synchrotron background. There are no obvious physical structures in the ISM that may have caused the canals, and so they have been called Faraday ghosts. They evidently carry information about interstellar turbulence but only now is it becoming clear how this information can be extracted. Two theories for the origin of the canals have been proposed; both attribute the canals to Faraday rotation, but one invokes strong gradients in Faraday rotation in the sky plane (specifically, in a foreground Faraday screen) and the other only relies on line-of-sight effects (differential Faraday rotation). In this review we discuss the physical nature o...

  20. The Love Canal: Beyond science?

    Science.gov (United States)

    Bell, Peter M.

    When in 1978, the New York State Department of Health issued the report, ‘Love Canal—Public Health Time Bomb,’ the serious effects of chemical waste contamination in the Love Canal area became an issue of national concern. A few ‘studies’ since then have produced results in concert with those of initial reports that described ‘conditions of acute health effects’ as being linked to hazardous wastes incorporated in landfill in the Love Canal site near Niagara Falls, New York. Now that a ‘blue ribbon’ panel of experts from the medical sciences has reviewed the problems of Love Canal, however, a different view has emerged. The ‘Report of the Governors' Panel to Review Scientific Studies and the Development of Public Policy on Problems Resulting from Hazardous Wastes,’ transmitted in October of this year, identifies the following factors about the health effects at Love Canal:

  1. End-stage kidney disease due to haemolytic uraemic syndrome – outcomes in 241 consecutive ANZDATA registry cases

    Directory of Open Access Journals (Sweden)

    Tang Wen

    2012-12-01

    Full Text Available Abstract Background The aim of this study was to investigate the characteristics and outcomes of patients receiving renal replacement therapy for end-stage kidney disease (ESKD secondary to haemolytic uraemic syndrome (HUS. Methods The study included all patients with ESKD who commenced renal replacement therapy in Australia and New Zealand between 15/5/1963 and 31/12/2010, using data from the ANZDATA Registry. HUS ESKD patients were compared with matched controls with an alternative primary renal disease using propensity scores based on age, gender and treatment era. Results Of the 58422 patients included in the study, 241 (0.4% had ESKD secondary to HUS. HUS ESKD was independently associated with younger age, female gender and European race. Compared with matched controls, HUS ESKD was not associated with mortality on renal replacement therapy (adjusted hazard ratio [HR] 1.14, 95% CI 0.87-1.50, p = 0.34 or dialysis (HR 1.34, 95% CI 0.93-1.93, p = 0.12, but did independently predict recovery of renal function (HR 54.01, 95% CI 1.45-11.1, p = 0.008. 130 (54% HUS patients received 166 renal allografts. Overall renal allograft survival rates were significantly lower for patients with HUS ESKD at 1 year (73% vs 91%, 5 years (62% vs 85% and 10 years (49% vs 73%. HUS ESKD was an independent predictor of renal allograft failure (HR 2.59, 95% CI 1.70-3.95, p  Conclusions HUS is an uncommon cause of ESKD, which is associated with comparable patient survival on dialysis, an increased probability of renal function recovery, comparable patient survival post-renal transplant and a heightened risk of renal transplant graft failure compared with matched ESKD controls.

  2. Difficulties with diagnosis and consequential poor outcome due to stigma of acquired immunodeficiency syndrome – a case report

    Science.gov (United States)

    Vuletic, Vladimira; Nevajda, Branimir; Spero, Martina; Chudy, Darko

    2013-01-01

    Low incidence of human immunodeficiency virus (HIV) infections and acquired immunodeficiency syndrome (AIDS) has been detected in Croatia so far. Toxoplasmic encephalitis (TE) is the most common opportunistic cerebral infection in AIDS patients and is highly responsive to antiparasitic chemotherapy, if treated at an early stage. We present the case of the brain biopsy confirmed as TE on a 36-year-old female patient who at admission presented with unconsciousness and a right hemiplegia. A MSCT was performed and two hypodense lesions were diagnosed. The patient’s family initially denied the presence or history of any medical problem or infection. An MRI showed multiple ring-enhanced mass lesions. An infectologist required a brain biopsy to exclude cerebral lymphoma and multiple metastases. Pathohistological analysis suggested TE. Meanwhile, patient’s blood samples were found to be HIV positive. The patient was transferred to University Hospital for Infectious Diseases in Zagreb, where she died 2 days following admission. The patient’s family terminally confessed that the patient had been HIV positive for 10 years and had refused any treatment. Family’s denial of infection as well as ‘hiding information’ concerning patient’s health from physicians involved in her treatment caused a delay in proper on-time patient treatment. We would like to emphasize that TE must be considered as a differential diagnosis in patients presenting with multiple cerebral lesions, including patients without acknowledged past history of HIV infection. A stigma towards HIV infection and ignorance of the disease still exist and therefore hinders proper treatment. PMID:24091082

  3. What is Metabolic Syndrome?

    Science.gov (United States)

    ... from the NHLBI on Twitter. What Is Metabolic Syndrome? Metabolic syndrome is the name for a group of ... that may play a role in causing metabolic syndrome. Outlook Metabolic syndrome is becoming more common due to a ...

  4. Interaction Between Syndromic and Non-Syndromic Factors Affecting Speech and Language Development in Treacher-Collins Syndrome

    Directory of Open Access Journals (Sweden)

    Marziyeh Poorjavad

    2011-09-01

    Full Text Available Background: Treacher-Collins syndrome is a congenital craniofacial disorder with multiple anomalies. This syndrome affects the maxilla, mandible, eyes, middle and outer ears, and soft palate. Conductive hearing loss due to the deformities of the middle and external ears is prevalent. The characteristics of this syndrome include multiple and serious threats to normal communication development in children. In this study, speech and language features of a Persian speaking child with this syndrome are presented.Case: The case was an 8-year old girl with Treacher-Collins syndrome and bilateral moderate conductive hearing loss due to atretic canal. In language and speech assessments, moderate hypernasality, numerous compensatory errors and morphosyntactic deficits were observed. There were 13 phonemes that were incorrectly produced at least in one position. Besides, she used 22 types of phonological processes that were abnormal and disappear before the age of three in normal Persian speaking children.Conclusion: Moderate hearing loss, velopharyngeal incompetency, malocclusion and dental anomalies, attention deficit/hyperactivity disorder (ADHD and environmental factors resulted in severe speech and language disorders in this case. These disorders affected her academic performance as well. Moderate hypernasality, numerous compensatory errors, and excessive and abnormal use of phonological processes were not presented as prevalent characteristics of Treacher-Collins syndrome in other resources.

  5. Radioiodine therapy in a patient with papillary thyroid carcinoma associated with breast uptake; hyperprolactinemia due to empty sella syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Pai, Moon Sun; Park, Chan H.; Seo, Jung Ho [College of Medicine, Ajou Univ., Suwon (Korea, Republic of); Kim, Kyoung Rae [Yungdong Sevrance Hospital, Seoul (Korea, Republic of)

    1998-01-01

    We report a 37 year-old-female patient with papillary thyroid cancer treated by surgery who demonstrated residual thyroid and bilateral breast uptake on a diagnostic I-131 whole body scan. She had an extrathyroidal extension needing I-131 ablative therapy. Her galactorrhea was investigated and treated with low doses of bromocriptine prior to I-131 therapy. Her galactorrhea was was due to the decreased secretion of PIF induced by empty sella.

  6. Síndrome pulmonar por hantavirus Andes en Chile CARDIOPULMONARY SYNDROME DUE TO ANDES VIRUS IN CHILE

    Directory of Open Access Journals (Sweden)

    CONSTANZA CASTILLO H.

    2002-01-01

    Full Text Available Desde 1993 han ocurrido 204 casos de Síndrome Cardiopulmonar por Hantavirus (SCPH en Chile. Los brotes epidémicos comenzaron en el sur y avanzan hacia el norte del país. Los más afectados son varones jóvenes, obreros agrícolas o forestales. En Chile, el SCPH es causado por el virus Andes, cuyo reservorio es el Oligorizomys longicaudatus (ratón de cola larga, que se distribuye desde la III Región al sur. El cuadro clínico es similar al descrito en EE.UU., caracterizado por una fase prodrómica que simula un estado gripal o cuadro gastrointestinal febril y que agrava por la aparición de edema pulmonar agudo e inestabilidad hemodinámica (fase cardiopulmonar. Sin embargo, cursa con mayores alteraciones hemorragí-paras y compromiso renal. La mortalidad inicial fue sobre 50% y actualmente es de alrededor del 33,3%. La presente revisión incluye: historia de la enfermedad, reservorio, modos de transmisión, patogenia, cuadro clínico, diagnóstico, tratamiento y medidas de prevenciónSince 1993, 204 cases of Hantavirus cardiopulmonary syndrome (HCPS occurred in Chile. Epidemic began in the south and moved thereafter to the northern regions. The disease affected predominantly young males, who worked in agricultural labours or as timber workers. The HCPS in Chile is caused by the Andes virus. The reservoir is the wild rat Oligoryzomis longicaudatus distributed from the III to the XII Region. The clinical features are similar to those described for Sin Nombre Virus. The disease has a prodromal stage characterised by fever, muscular pain, with or without gastrointestinal manifestations, followed by the rapid onset of respiratory insufficiency and haemodynamic unstability. Andes virus courses more often with haemorrhagic disorders and overt renal failure, than Sin Nombre Virus. The initial mortality was over 50% and declined to 33,3% in the last year. History of hantavirus-diseases, reservoir, and mode of contagion, pathogenesis, clinical

  7. Reversible acute axonal polyneuropathy associated with Wernicke-Korsakoff syndrome: impaired physiological nerve conduction due to thiamine deficiency?

    Science.gov (United States)

    Ishibashi, S; Yokota, T; Shiojiri, T; Matunaga, T; Tanaka, H; Nishina, K; Hirota, H; Inaba, A; Yamada, M; Kanda, T; Mizusawa, H

    2003-05-01

    Acute axonal polyneuropathy and Wernicke-Korsakoff encephalopathy developed simultaneously in three patients. Nerve conduction studies (NCS) detected markedly decreased compound muscle action potentials (CMAPs) and sensory nerve action potentials (SNAPs) with minimal conduction slowing; sympathetic skin responses (SSRs) were also notably decreased. Sural nerve biopsies showed only mild axonal degeneration with scattered myelin ovoid formation. The symptoms of neuropathy lessened within two weeks after an intravenous thiamine infusion. CMAPs, SNAPs, and SSRs also increased considerably. We suggest that this is a new type of peripheral nerve impairment: physiological conduction failure with minimal conduction delay due to thiamine deficiency.

  8. Dhakeri-Bange syndrome in goats due to Penicillium and Aspergillus spp, in Banke district of Nepal: a Clinical-Laboratory Investigation

    Directory of Open Access Journals (Sweden)

    Kedar Karki

    Full Text Available An outbreak of syndrome of unknown etiology associated with the feeding of moldy dry forage and green fodder to goats in Dhakeri village of Banke District. Goats suddenly became ill with symptoms of knuckling of the fetlocks of the pelvic limbs, with no apparent ataxia or flexor weakness. Weight bearing was possible while the digits were extended, but with knuckling, weight was supported on the dorsal surface of the foot .The more severely affected goats were paraplegic and recumbent. Anorexia, apathy, diarrhea and ruminal stasis, flaccid posterior paralysis,hindlegs stretched forward both side of abdomin,paralysis of all four legs, head bented to sides, aimlessly head and rear shaking .On clinical examination based on history these goats were provisionally diagnosed as Dhakeri-Bange as being called locally and Endemic Mycotic polyneuropathy syndrome as seen first time in Nepal due to moldy forage/fodder poisoning in natural pasture were treated with Antidegnala liquor(sr. On mycological and microbiological examination of tissue samples from post-mortem of dead goat and forage/fodder samples from pasture and goats feeding stalls on respective medium revealed the growth of fungal pathogens like Aspergillus and Penicillium spp with E.coli.These results provide circumstantial evidence that feeding of moldy forages and green fodder leaves infected by Penicillium and Aspergillus spp may cause outbreaks of a systemic Mycosis in these goats. [Vet. World 2008; 1(12.000: 357-359

  9. Factors Associated with Death Due to 2009 Influenza A (H1N1) Virus Infection and Acute Respiratory Distress Syndrome in Beijing, 2009-2011

    Institute of Scientific and Technical Information of China (English)

    Jin-qian; Zhang; Li-cheng; Zhang; Na; Ren; Ming; Zhang; Li-min; Guo; Xing-wang; Li; Jun; Cheng

    2012-01-01

    Objective Patients with H1N1 virus infection were hospitalized and quarantined, and some of them developed into acute respiratory failure, and were transfered to the medical intensive care unit of Beijing Ditan Hospital, Capital Medical University in Beijing, China. Methods The clinical features and preliminary epidemiologic findings among 30 patients with confirmed H1N1 virus infection who developed into acute respiratory failure for ventilatory support were investigated. Results A total of 30 patients(37.43 ± 18.80 years old) with 2009 influenza A(H1N1) related acute respiratory distress syndrome(ARDS) received treatment with mechanical ventilation, 15 cases of whom were male and 17 cases died of ARDS. Fatal cases were significantly associated with an APACHE Ⅱ score(P = 0.016), but not with PaO 2 /FIO 2(P = 0.912) and chest radiograph(P = 0.333). The most common complication was acute renal failure(n = 9). Five patients received extracorporeal membrane oxygenation(ECMO), 3 of whom died and the others survived. The major causes of death were multiple organ dysfunction syndrome(MODS)(39%), intractable respiratory failure(27%) and sepsis(20%). Conclusions Most patients with respiratory failure due to influenza A(H1N1) virus infection were young, with a high mortality, particularly associated with APACHE Ⅱ score, secondary infection of lung or type 2 diabetes mellitus.

  10. Mitochondrial respiratory chain enzyme assay and DNA analysis in peripheral blood leukocytes for the etiological study of Chinese children with Leigh syndrome due to complex I deficiency.

    Science.gov (United States)

    Ma, Yan Yan; Wu, Tong Fei; Liu, Yu Peng; Wang, Qiao; Li, Xi Yuan; Zhang, Yao; Song, Jin Qing; Wang, Yu Jie; Yang, Yan Ling

    2013-02-01

    Mitochondrial respiratory chain complex I enzyme deficiency is the most commonly seen mitochondrial respiratory chain disorder. Although screening and diagnostic methods are available overseas, clinically feasible diagnostic methods have not yet been established in China. In this study, four Chinese boys with Leigh syndrome due to complex I deficiency were diagnosed by mitochondrial respiratory chain enzyme assay and DNA analysis using peripheral blood leukocytes. Four patients were admitted at the age of 5-14 years because of unexplained progressive neuromuscular symptoms, including motor developmental delay or regression, weakness, and seizures. Their cranial magnetic resonance imaging revealed typical finding as Leigh syndrome. Peripheral leukocyte mitochondrial respiratory chain complex I activities were found decreased to 9.6-33.1 nmol/min/mg mitochondrial protein(control 44.0 ± 5.4 nmol/min/mg). The ratios of complex I to citrate synthase activity were also decreased (8.9-19.8% in patients vs. control 48 ± 11%). Three mtDNA mutations were identified from three out of four patients, supporting the diagnosis of complex I deficiency. Point mutations m.10191T>C in mitochondrial ND3 gene, m.13513G>A in ND5 gene and m.14,453G>A in ND6 gene were detected in three patients.

  11. L712V mutation in the androgen receptor gene causes complete androgen insensitivity syndrome due to severe loss of androgen function.

    Science.gov (United States)

    Rajender, Singh; Gupta, Nalini J; Chakrabarty, Baidyanath; Singh, Lalji; Thangaraj, Kumarasamy

    2013-12-11

    Inability to respond to the circulating androgens is named as androgen insensitivity syndrome (AIS). Mutations in the androgen receptor (AR) gene are the most common cause of AIS. A cause and effect relationship between some of these mutations and the AIS phenotype has been proven by in vitro studies. Several other mutations have been identified, but need to be functionally validated for pathogenicity. Screening of the AR mutations upon presumptive diagnosis of AIS is recommended. We analyzed a case of complete androgen insensitivity syndrome (CAIS) for mutations in the AR gene. Sequencing of the entire coding region revealed C>G mutation (CTT-GTT) at codon 712 (position according to the NCBI database) in exon 4 of the gene, resulting in replacement of leucine with valine in the ligand-binding domain of the AR protein. No incidence of this mutation was observed in 230 normal male individuals analyzed for comparison. In vitro androgen binding and transactivation assays using mutant clone showed approximately 71% loss of ligand binding and about 76% loss of transactivation function. We conclude that CAIS in this individual was due to L712V substitution in the androgen receptor protein.

  12. Combined treatment with bicalutamide and anastrozole in a young boy with peripheral precocious puberty due to McCune-Albright Syndrome.

    Science.gov (United States)

    Tessaris, Daniele; Matarazzo, Patrizia; Mussa, Alessandro; Tuli, Gerdi; Verna, Francesca; Fiore, Ludovica; Lala, Roberto

    2012-01-01

    McCune-Albright Syndrome (MAS) is a congenital endocrine disorder due to mosaic tissutal hyper-function. We describe a boy with a molecularly confirmed MAS, clinically evident with congenital café-au-lait spots, bone fibrous dysplasia, hyperthyroidism, and renal phosphate wasting syndrome. At 4.6 years of age he disclosed a rapid progression of peripheral puberty, so we decided to treat him with bicalutamide 25 mg/day and anastrozole 1 mg/day. Combined third generation aromatase inhibitors - competitive androgen receptor blockers were employed in familial male precocious puberty (FMPP). Combined treatment was performed for 49 months from the age of 4.6 to 6.7 years. The patient underwent clinical, laboratory, and instrumental evaluation twice a year from the first admission to the current age. This treatment caused a rapid normalization of growth velocity, subsequent reduction of penile androgenization, and stabilization of testicular volume. The therapy was well tolerated for all its duration and neither side effects, nor secondary hypothalamic activation were noted. This report provides further evidence of effectiveness and safety of combined third generation aromatase inhibitors - competitive androgen receptor blockers in male precocious peripheral puberty, firstly employed in male MAS, and contributes to expand the spectrum of disorders in which their employment may reveal promising.

  13. TREATMENT OF COMPRESSION SYNDROME OF CERVICAL POSTERIOR BRANCH BY CERVICAL NERVE BLOCK OUTSIDE VERTEBRAL CANAL AND MANIPULATION%椎管外颈神经阻滞加手法治疗颈神经后支卡压综合症

    Institute of Scientific and Technical Information of China (English)

    王希; 袁君君

    2001-01-01

    为探讨评价颈神经后支卡压综合症的诊治方法,根据YabukiS等对颈神经解剖学的研究,结合临床回顾性地分析了89例颈神经后支卡压综合症患者椎管外颈神经阻滞及手法治疗的效果。经平均6个月随访,结果47例单纯行颈神经阻滞术者,治愈38例,占80.1%;42例配合手法治疗者,全部治愈,占100%。组间比较(P<0.05),两组治愈率有明显差异。提示对病因不明及无明显神经体征的头、颈肩痛患者,应诊断为颈神经后支卡压综合症,与颈神经后支在关节突出部位的卡压有关。椎管外颈神经阻滞配合手法治疗,是一种针对性强、有效的治疗方法。%To explore the diagnostic and therapeutic methods of compressionsyndrome of cervical posterior branch, according to Yabukis'research about anatomy of cervical nerve, analyze retrospectively the therapeutic effect of compression syndrome of cervical posterior branch(89 cases) with cervical nerve block outside vertebral canal and manipulation. The average follow-up time was half a year. 38 out of 47 patients were cured with cervical nerve block and the curative rate was 80%, but other 42 patients were all cured with cervical nerve block outside vertebral canal and manipulation, the curative rate was 100%. There was a significant difference(P<0.05) in two groups. For head-neck-shoulder pain patients without clear cause and obvious nervous signs, they should be diagnosed as compression syndrome of cervical posterior branch, which related to being compressed of cervical posterior branch at the articular process. It was suggested that cervical nerve block outside vertebral canal with manipulation was a pointed and effective therapeutic method.

  14. Limitations of navigation through Nubaria canal, Egypt.

    Science.gov (United States)

    Samuel, Magdy G

    2014-03-01

    Alexandria port is the main Egyptian port at the Mediterranean Sea. It is connected to the Nile River through Nubaria canal, which is a main irrigation canal. The canal was designed to irrigate eight hundred thousand acres of agricultural lands, along its course which extends 100 km. The canal has three barrages and four locks to control the flow and allow light navigation by some small barges. Recently, it was decided to improve the locks located on the canal. More than 40 million US$ was invested in these projects. This decision was taken to allow larger barges and increase the transported capacity through the canal. On the other hand, navigation through canals and restricted shallow waterways is affected by several parameters related to both the channel and the vessel. Navigation lane width as well as vessel speed and maneuverability are affected by both the channel and vessel dimensions. Moreover, vessel dimensions and speed will affect the canal stability. In Egypt, there are no guide rules for navigation through narrow and shallow canals such Nubaria. This situation threatens the canal stability and safety of navigation through it. This paper discussed the characteristics of Nubaria canal and the guide rules for navigation in shallow restricted water ways. Dimensions limitation for barges navigating through Nubaria canal is presented. New safe operation rules for navigation in Nubaria canal are also presented. Moreover, the implication of navigation through locks on canal discharge is estimated.

  15. Limitations of navigation through Nubaria canal, Egypt

    Directory of Open Access Journals (Sweden)

    Magdy G. Samuel

    2014-03-01

    Full Text Available Alexandria port is the main Egyptian port at the Mediterranean Sea. It is connected to the Nile River through Nubaria canal, which is a main irrigation canal. The canal was designed to irrigate eight hundred thousand acres of agricultural lands, along its course which extends 100 km. The canal has three barrages and four locks to control the flow and allow light navigation by some small barges. Recently, it was decided to improve the locks located on the canal. More than 40 million US$ was invested in these projects. This decision was taken to allow larger barges and increase the transported capacity through the canal. On the other hand, navigation through canals and restricted shallow waterways is affected by several parameters related to both the channel and the vessel. Navigation lane width as well as vessel speed and maneuverability are affected by both the channel and vessel dimensions. Moreover, vessel dimensions and speed will affect the canal stability. In Egypt, there are no guide rules for navigation through narrow and shallow canals such Nubaria. This situation threatens the canal stability and safety of navigation through it. This paper discussed the characteristics of Nubaria canal and the guide rules for navigation in shallow restricted water ways. Dimensions limitation for barges navigating through Nubaria canal is presented. New safe operation rules for navigation in Nubaria canal are also presented. Moreover, the implication of navigation through locks on canal discharge is estimated.

  16. Unusual presentation of obstructive sleep apnoea syndrome due to a giant mandible osteoma: case report and literature review.

    Science.gov (United States)

    Tarsitano, A; Marchetti, C

    2013-02-01

    Osteomas are benign lesions composed of mature compact and/or cancellous bone that grow continuously. Their pathogenesis is unknown. It has been considered to be a neoplasm, a developmental or reactive osteogenic lesion resulting from muscle traction on the periosteum, or due to trauma. Herein, we report an unusual case of giant osteoma of the mandible depressing the lateral pharyngeal wall, interfering with normal respiration during the night. The uniqueness of this case is related to snoring and sleep apnoea symptoms. In fact, he presented to our Department because daytime sleepiness hindered his work, and not for the evident facial swelling. We reported our experience in diagnosis, treatment and follow-up of this uncommon disease. Polysomnography, CT scan and 3-D PAS volume analysis are useful tools to study in detail the aetiology of apnoea and assess outcomes.

  17. Intermittent gastric outlet obstruction due to a gallstone migrated through a cholecysto-gastric fistula: A new variant of "Bouveret's syndrome"

    Institute of Scientific and Technical Information of China (English)

    Dimitry Arioli; Mario De Santis; Fabrizio Di Benedetto; Giorgio Enrico Gerunda; Maria Luisa Zeneroli; Ivo Venturini; Michele Masetti; Elisa Romagnoli; Antonella Scarcelli; Pietro Ballesini; Athos Borghi; Alessandro Barberini; Vincenzo Spina

    2008-01-01

    Bouveret's syndrome, defined as gastric outlet obstruction due to a large gallstone, is still one of the most dramatic biliary gallstone complications. Although new radiological and endoscopic techniques have made pre-surgical diagnosis possible in most cases and the death rate has dropped dramatically, "one-stage surgery" (biliary surgery carried out at the same time as the removal of the gut obstruction) should be still considered as the gold standard for the treatment of gallstone ileus. In this case, partial gastric outlet obstruction resulted in an atypical and insidious clinical presentation that allowed us to perform the conventional one-stage laparatomic procedure that completely solved the problem, thus avoiding any further complications.

  18. Syndrome-Specific Deficits of Performance and Effects of Practice on Arm Movements with Deafferentation due to Posterior Thalamic Lesion

    Directory of Open Access Journals (Sweden)

    Thomas Platz

    1997-01-01

    Full Text Available Aiming and tapping movements were analysed repeatedly over a three-week period in a patient who was hemideafferented due to an ischaemic posterior thalamic lesion. Contrasting behaviour observed in six healthy subjects, nine hemiparetic patients and one patient with hemianopic stroke, allowed the determination of behavioural deficits related to deafferentation. Finger tapping was not impaired specifically and did not improve with practice in the deafferented patient. When aiming movements were investigated, accuracy of the first, largely preprogrammed, phase of movement and timing of the late homing-in phase were impaired specifically in the deafferented patient. Practice led to a step-like change in preprogramming amplitude of the ballistic movement component, a gradual improvement of temporal efficiency of the early movement phase and a more marked improvement of the homing-in phase. Qualitatively comparable but quantitatively less marked effects of practice were documented for hemiparetic patients. These results demonstrated that deafferentation affects preprogrammed aspects of movement and those influenced by current control and that motor learning is possible with central deafferentation, even for aspects of performance that are impaired specifically. It is postulated that motor learning was mediated by changes in strategy (motor programming and improved efficiency of intact motor control processes (visuomotor control.

  19. Traumatic duodenal lesions in children due to two-point seat-belt: the seat-belt syndrome.

    Science.gov (United States)

    Guanà, R; Sangiorgio, L; Tessiatore, P; Seymandi, P

    2012-02-01

    Two consecutive children, motor vehicle accident victims, were treated between December 2006 and January 2007. They reported duodenal perforations due to lap-belt action. In the first case (a 9-year-old boy), symptoms became immediately evident after the trauma. Early computerized tomography (CT) scan demonstrated biliaryhemoperitonitis and free sub-diaphragmatic air. At the laparotomy a complete duodenal transection, at the level of duodenal bulb, was found. In the second patient, early X-ray and CT scan revealed no free abdominal air; only the second CT scan, repeated after 48 hours, when general conditions of the girl become critical, demonstrated biliary peritonitis and aerial extraluminal gas image in the right peri-kidney space. At the surgical exploration a duodenal laceration was noted, at the passage between the second and the third duodenal portion, in the postero-lateral wall, with an extension of 6 cm. In both children direct suture of duodenal injury without stoma construction was performed. Not early or late postoperative complications were registered (follow-up: 18 months). In the traumatic duodenal lesions an early diagnosis is not always possible because of the paucity of the clinical signs. Tightened clinical and radiological monitoring of the patient is fundamental in the successive hours to the trauma. Early diagnosis and high level of suspicious rest crucial for better prognosis in this group of patients.

  20. El Canal del Atazar I

    Directory of Open Access Journals (Sweden)

    López de Berges y de los Santos, Emilio

    1967-03-01

    Full Text Available The Atazar Canal helps to supply Madrid with water, from the rivers Lozoya, Jarama and Sorbe. The section which operates at present starts at the Torrelaguna dam and finishes at the El Goloso reservoir. Later a further section will be added, from the Atazar dam, on the Lozoya river, to link up with the control dam at Torrelaguna. The canal capacity is 16 m3/sec, and it is 43.47 km long. It has a slope of 4/10.000. The cross section is similar to that of the Jarama canal, already built. There are interconnections between this canal and the Canal Alto, which previously supplied the high and medium part of Madrid. To overcome the ground unevenness 5 syphons have been built, the most important of which is the Colmenar Goloso syphon, which is 10.88 km in length. Construction commenced on December 10, 1962, and water reached Madrid on June 15th, 1966. The initial budget for this project was 1,500 million pesetas.El canal del Atazar refuerza considerablemente el abastecimiento de aguas a Madrid, procedentes de los ríos Lozoya, Jarama y, en un próximo futuro, del Sorbe. El tramo, actualmente en funcionamiento, empieza en el salto de Torrelaguna y finaliza en los depósitos de El Goloso. Más adelante se completará su trazado mediante un nuevo tramo que partirá del embalse de Atazar, en el Lozoya, para unirse al actual en el depósito regulador de Torrelaguna. Su capacidad es de 16 m3/s; su longitud, 43,471 km, y su pendiente, 4 diezmilésimas. La sección tipo es análoga a la del canal del Jarama, de construcción anterior. Mediante la oportuna obra de transvase se realizan intercambios entre este Canal y el Canal Alto que abastecía anteriormente la parte media y alta de la capital. Para salvar los desniveles del terreno se han construido 5 sifones, siendo el más importante el de Colmenar-Goloso, con una longitud de 10,8S4 km. El comienzo de las obras tuvo lugar el 10 de diciembre de 1962, y el agua llegó a Madrid el 15 de junio de 1966. Su

  1. Fatal case of hemolytic-uremic syndrome in an adult due to a rare serogroup O91 Entero hemorrhagic Escherichia coli associated with a Clostridium difficile infection. More than meets the eye.

    Science.gov (United States)

    Guillard, Thomas; Limelette, Anne; Le Magrex-Debar, Elisabeth; Wynckel, Alain; Gouali, Malika; Mariani-Kurkdjian, Patricia; Guyot-Colosio, Charlotte; de Champs, Christophe

    2015-08-01

    Hemolytic-uremic syndrome due to enterohemorrhagic Escherichia coli, belonging to serogroup O91 has rarely been described. We report here a case of post-diarrheal HUS due to EHEC O91 in an elderly patient for whom diagnosis was delayed given a previously diagnosed C. difficile infection. This case highlights the usefulness of Shiga-toxin detection.

  2. Fatal case of hemolytic-uremic syndrome in an adult due to a rare serogroup O91 Entero hemorrhagic Escherichia coli associated with a Clostridium difficile infection. More than meets the eye

    Directory of Open Access Journals (Sweden)

    Thomas Guillard

    2015-08-01

    Full Text Available Hemolytic-uremic syndrome due to enterohemorrhagic Escherichia coli, belonging to serogroup O91 has rarely been described. We report here a case of post-diarrheal HUS due to EHEC O91 in an elderly patient for whom diagnosis was delayed given a previously diagnosed C. difficile infection. This case highlights the usefulness of Shiga-toxin detection.

  3. Canals - CANALS_HISTORIC_STRUCTURES_IN: Historic Canal Structures in Indiana (Bernardin-Lochmueller & Associates, Point Shapefile)

    Data.gov (United States)

    NSGIC GIS Inventory (aka Ramona) — Data depicts the locations of historic structures associated with the Wabash-Erie, Central, and Whitewater Canals constructed in Indiana in from 1830-1870. Canal...

  4. Corinth Canal, Greece

    Science.gov (United States)

    2006-01-01

    The Isthmus of Corinth has played a very important role in the history of Greece. It is the only land bridge between the country's north (Attica) and south (Peloponnese). It is a 6 km wide tongue of land separating the Gulf of Corinth from the Saronic Sea. Populations, armies and commodities have got to move through it. In the 6th century BCE, the Greeks built the Diolkos, a 10 meter-wide stone roadway to pull ships across the Isthmus on wooden cylinders and wheeled vehicles. In 1882, a canal was started and completed 11 years later. It is 6343 meters long, 25 meters wide, and 8 meters deep. With its 14 spectral bands from the visible to the thermal infrared wavelength region, and its high spatial resolution of 15 to 90 meters (about 50 to 300 feet), ASTER images Earth to map and monitor the changing surface of our planet. ASTER is one of five Earth-observing instruments launched December 18, 1999, on NASA's Terra satellite. The instrument was built by Japan's Ministry of Economy, Trade and Industry. A joint U.S./Japan science team is responsible for validation and calibration of the instrument and the data products. The broad spectral coverage and high spectral resolution of ASTER provides scientists in numerous disciplines with critical information for surface mapping, and monitoring of dynamic conditions and temporal change. Example applications are: monitoring glacial advances and retreats; monitoring potentially active volcanoes; identifying crop stress; determining cloud morphology and physical properties; wetlands evaluation; thermal pollution monitoring; coral reef degradation; surface temperature mapping of soils and geology; and measuring surface heat balance. The U.S. science team is located at NASA's Jet Propulsion Laboratory, Pasadena, Calif. The Terra mission is part of NASA's Science Mission Directorate. Size: 25.3 by 37.7 kilometers (15.7 by 23.4 miles) Location: 37.9 degrees North latitude, 23 degrees East longitude Orientation: North at top Image

  5. Fluidmechanics of semicircular canals revisited

    Science.gov (United States)

    Obrist, Dominik

    2008-05-01

    In this work we find the exact solution for the flow field in a semicircular canal which is the main sensor for angular motion in the human body. When the head is rotated the inertia of the fluid in the semicircular canal leads to a deflection of sensory hair cells which are part of a gelatinous structure called cupula. A modal expansion of the governing equation shows that the semicircular organ can be understood as a dynamic system governed by duct modes and a single cupular mode. We use this result to derive an explicit expression for the displacement of the cupula as a function of the angular motion of the head. This result shows in a mathematically and physically clean way that the semicircular canal is a transducer for angular velocity.

  6. Retention of Root Canal Posts

    DEFF Research Database (Denmark)

    Sahafi, A; Benetti, Ana Raquel; Flury, S;

    2015-01-01

    The aim of this study was to investigate the effect of the cement film thickness of a zinc phosphate or a resin cement on retention of untreated and pretreated root canal posts. Prefabricated zirconia posts (CosmoPost: 1.4 mm) and two types of luting cements (a zinc phosphate cement [DeTrey Zinc......] and a self-etch adhesive resin cement [Panavia F2.0]) were used. After removal of the crowns of 360 extracted premolars, canines, or incisors, the root canals were prepared with a parallel-sided drill system to three different final diameters. Half the posts did not receive any pretreatment. The other half...... received tribochemical silicate coating according to the manufacturer's instructions. Posts were then luted in the prepared root canals (n=30 per group). Following water storage at 37°C for seven days, retention of the posts was determined by the pull-out method. Irrespective of the luting cement...

  7. Nanodiamond-Gutta Percha Composite Biomaterials for Root Canal Therapy.

    Science.gov (United States)

    Lee, Dong-Keun; Kim, Sue Vin; Limansubroto, Adelheid Nerisa; Yen, Albert; Soundia, Akrivoula; Wang, Cun-Yu; Shi, Wenyuan; Hong, Christine; Tetradis, Sotirios; Kim, Yong; Park, No-Hee; Kang, Mo K; Ho, Dean

    2015-11-24

    Root canal therapy (RCT) represents a standard of treatment that addresses infected pulp tissue in teeth and protects against future infection. RCT involves removing dental pulp comprising blood vessels and nerve tissue, decontaminating residually infected tissue through biomechanical instrumentation, and root canal obturation using a filler material to replace the space that was previously composed of dental pulp. Gutta percha (GP) is typically used as the filler material, as it is malleable, inert, and biocompatible. While filling the root canal space with GP is the standard of care for endodontic therapies, it has exhibited limitations including leakage, root canal reinfection, and poor mechanical properties. To address these challenges, clinicians have explored the use of alternative root filling materials other than GP. Among the classes of materials that are being explored as novel endodontic therapy platforms, nanodiamonds (NDs) may offer unique advantages due to their favorable properties, particularly for dental applications. These include versatile faceted surface chemistry, biocompatibility, and their role in improving mechanical properties, among others. This study developed a ND-embedded GP (NDGP) that was functionalized with amoxicillin, a broad-spectrum antibiotic commonly used for endodontic infection. Comprehensive materials characterization confirmed improved mechanical properties of NDGP over unmodified GP. In addition, digital radiography and microcomputed tomography imaging demonstrated that obturation of root canals with NDGP could be achieved using clinically relevant techniques. Furthermore, bacterial growth inhibition assays confirmed drug functionality of NDGP functionalized with amoxicillin. This study demonstrates a promising path toward NDGP implementation in future endodontic therapy for improved treatment outcomes.

  8. INSTRUMENTATION OF CURVED CANALS: A REVIEW

    Directory of Open Access Journals (Sweden)

    Senthil Kumar

    2013-02-01

    Full Text Available INTRODUCTION: Nature seldom draws a straight line. Nowhere is thi s more apparent than in the anatomy of teeth roots and root canal systems o f human teeth. Even teeth with straight roots can harbor severely curved canals. Canal shapi ng is a critical aspect of endodontic treatment because it influences the outcome of the subsequent phases of canal irrigation and filling and the success of the treatment itself. In fact, curved canals are the most common endodontic complexity 1 . The need for some manner of root canal preparation pri or to root canal filling has long been recognized as an essential step in endodontic t reatment. Concepts concerning the role and purpose of this canal preparation, however, have differ ed remarkably at different times in the development of endodontics and in the hands of diffe rent practitioners 2

  9. [Case of unilateral thalamo-mesencephalic infarction with enlargement to bilateral vertical gaze palsy due to vertical one-and-a-half syndrome].

    Science.gov (United States)

    Suzuki, Keisuke; Odaka, Masaaki; Tatsumoto, Muneto; Miyamoto, Tomoyuki; Takamatsu, Kazuhiro; Hirata, Koichi

    2008-01-01

    An 88-year-old female with atrial fibrillation and hypertension, was admitted to our hospital with sudden onset diplopia and somnolence. She had right hemiparesis with bilateral positive Babinski's sign. Additionally, there was bilateral blepharoptosis with right esotropia. With regard to extraocular movement, the patient demonstrated conjugate upgaze palsy and left monocular down gaze palsy (vertical one-and-a-half syndrome: VOHS). Horizontal gaze in the left eye was completely impaired and there was limited abduction of the right eye. Magnetic resonance imaging of the brain showed left thalamo-mesencephalic infarction. On day 4, the vertical eye movement developed into conjugate upgaze and down- gaze palsies. Magnetic resonance imaging of the brain indicated high signal lesion extending into the dorsal portion of the midbrain. It was suggested that the pathway to contralateral downgaze neurons could have been damaged due to the unilateral (left) dosal midbrain lesion before its decussation with the unilateral interstitial nucleus of Cajal, the oculomotor nucleus and the rostral interstitial nucleus of the medial longitudinal fasciculus. This case is considered to be important because there has been no previous report of bilateral vertical gaze palsy due to VOHS in the same patient. Since there are various patterns of ocular movement disorder in the thalamo-mesencephalic portion, careful observations are required to localize the lesions.

  10. 33 CFR 117.444 - Falgout Canal.

    Science.gov (United States)

    2010-07-01

    ... 33 Navigation and Navigable Waters 1 2010-07-01 2010-07-01 false Falgout Canal. 117.444 Section 117.444 Navigation and Navigable Waters COAST GUARD, DEPARTMENT OF HOMELAND SECURITY BRIDGES DRAWBRIDGE OPERATION REGULATIONS Specific Requirements Louisiana § 117.444 Falgout Canal. The draw of the LA 315 bridge across Falgout Canal, mile 3.1,...

  11. Developmental spinal canal stenosis and somatotype.

    OpenAIRE

    Nightingale, S.

    1989-01-01

    The hypothesis that somatotype and cervical spine developmental canal stenosis may be associated has been investigated by anthropometry and measurement of lateral projection cervical spine radiographs. A significant association of canal size with somatotype has been found such that those with developmentally narrow canals are more likely to have relatively shorter long-bones, particularly in the upper arm, and longer trunks.

  12. Canal Water Scarcity Hits Farmers

    Institute of Scientific and Technical Information of China (English)

    张忠潮

    2007-01-01

    Acute shortage of canal water for irrigation in this district has caused resentment among the farmers.The water is being released in the various channels for just one week in a month,which is not enough to meet the irrigation needs of the farmers who are preparing their fields for paddy

  13. [Endodontic microbiology: antimicrobial canal medications].

    Science.gov (United States)

    Seltzer, S; Farber, P A

    1989-06-01

    Medicaments used for reducing or eliminating microorganisms from infected root canals include: irrigating solutions, such as sodium hypochlorite, urea peroxide and hydrogen peroxide, chloramine, iodine-potassium-iodide solution, and chlorhexidine solution. In addition, various intracanal drugs, such as calcium hydroxide and antibiotics, are in use. The characteristics of these drugs are discussed.

  14. Semicircular canal dehiscence: comparison of T2-weighted turbo spin-echo MRI and CT

    Energy Technology Data Exchange (ETDEWEB)

    Krombach, G.A.; Schmitz-Rode, T.; Haage, P.; Guenther, R.W. [Department of Diagnostic Radiology, University of Technology, Pauwelstrasse 30, 52057, Aachen (Germany); DiMartino, E. [Department of Otorhinolaryngology, University of Technology, Pauwelstrasse 30, 52057, Aachen (Germany); Prescher, A. [Department of Anatomy, University of Technology, Pauwelstrasse 30, 52057, Aachen (Germany); Kinzel, S. [Department of Experimental Veterinary Medicine, University of Technology, Pauwelstrasse 30, 52057, Aachen (Germany)

    2004-04-01

    We assessed the value of MRI for delineation of dehiscence of the superior or posterior semicircular canal, as compared with CT, the current standard study for this entity. We reviewed heavily T2-weighted fast spin-echo images and high-resolution CT of the temporal bones of 185 patients independently semicircular canal dehiscence and its extent. In 30 patients (19 men, 11 women) we identified dehiscence of the bone over the superior and/or posterior semicircular canal on MRI. In 27 of these cases CT also showed circumscribed bone defects. In one patient dehiscence of the superior semicircular canal was initially overlooked on MRI, but seen on CT. MRI imaging thus had a sensitivity of 96% and specificity of 98%. Knowledge of the appearances of this entity on MRI may contribute to early diagnosis in patients with vertigo due to semicircular canal dehiscence. (orig.)

  15. Rapidly progressive renal disease as part of Wolfram syndrome in a large inbred Turkish family due to a novel WFS1 mutation (p.Leu511Pro)

    DEFF Research Database (Denmark)

    Yuca, Sevil Ari; Rendtorff, Nanna Dahl; Boulahbel, Houda

    2012-01-01

    Wolfram syndrome, also named "DIDMOAD" (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), is an inherited association of juvenile-onset diabetes mellitus and optic atrophy as key diagnostic criteria. Renal tract abnormalities and neurodegenerative disorder may occur in the third...... and fourth decade. The wolframin gene, WFS1, associated with this syndrome, is located on chromosome 4p16.1. Many mutations have been described since the identification of WFS1 as the cause of Wolfram syndrome. We identified a new homozygous WFS1 mutation (c.1532T>C; p.Leu511Pro) causing Wolfram syndrome...

  16. Hyperinsulinemic hypoglycemia in Beckwith-Wiedemann syndrome due to defects in the function of pancreatic beta-cell adenosine triphosphate-sensitive potassium channels

    DEFF Research Database (Denmark)

    Hussain, K; Cosgrove, K E; Shepherd, R M

    2005-01-01

    Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth syndrome that is clinically and genetically heterogeneous. Hyperinsulinemic hypoglycemia occurs in about 50% of children with BWS and, in the majority of infants, it resolves spontaneously. However, in a small group of patients the hypo......Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth syndrome that is clinically and genetically heterogeneous. Hyperinsulinemic hypoglycemia occurs in about 50% of children with BWS and, in the majority of infants, it resolves spontaneously. However, in a small group of patients...

  17. Mandibular Second Premolar with Four Canals

    Directory of Open Access Journals (Sweden)

    Javad Ghiasi

    2015-09-01

    Full Text Available A mandibular second premolar with four canals is an interesting example of anatomic variations. This report describes a case of a mandibular second premolar with three roots and four canals (one mesiobuccal, two distobuccal and one lingual. The canals were prepared using K-files and irrigated with NaOCl (5.25% and normal saline as the final irrigant. The canals were filled laterally with gutta percha and AH26 sealer (De Trey, Dentsply, Switzerland. This case shows a rare anatomic configuration and points out the importance of looking for additional canals.

  18. Dynamic intratubular biomineralization following root canal obturation with pozzolan‐based mineral trioxide aggregate sealer cement

    Science.gov (United States)

    Yoo, Yeon‐Jee; Baek, Seung‐Ho; Kum, Kee‐Yeon; Shon, Won‐Jun; Woo, Kyung‐Mi

    2015-01-01

    Summary The application of mineral trioxide aggregates (MTA) cement during the root canal obturation is gaining concern due to its bioactive characteristic to form an apatite in dentinal tubules. In this regard, this study was to assess the biomineralization of dentinal tubules following root canal obturation by using pozzolan‐based (Pz‐) MTA sealer cement (EndoSeal MTA, Maruchi). Sixty curved roots (mesiobuccal, distobuccal) from human maxillary molars were instrumented and prepared for root canal obturation. The canals were obturated with gutta‐percha (GP) and Pz‐MTA sealer by using continuous wave of condensation technique. Canals obturated solely with ProRoot MTA (Dentsply Tulsa Dental) or Pz‐MTA sealer were used for comparison. In order to evaluate the biomineralization ability under different conditions, the PBS pretreatment before the root canal obturation was performed in each additional samples. At dentin‐material interfaces, the extension of intratubular biomineralization was analyzed using scanning electron microscopy (SEM) and energy dispersive spectroscopy. When the root canal was obturated with GP and Pz‐MTA sealer, enhanced biomineralization of the dentinal tubules beyond the penetrated sealer tag was confirmed under the SEM observation (p cement can be used as a promising bioactive root canal sealer to enhance biomineralization of dentinal tubules under controlled environment. SCANNING 38:50–56, 2016. © 2015 The Authors. Scanning Published by Wiley Periodicals, Inc. PMID:26179659

  19. Dynamic intratubular biomineralization following root canal obturation with pozzolan-based mineral trioxide aggregate sealer cement.

    Science.gov (United States)

    Yoo, Yeon-Jee; Baek, Seung-Ho; Kum, Kee-Yeon; Shon, Won-Jun; Woo, Kyung-Mi; Lee, WooCheol

    2016-01-01

    The application of mineral trioxide aggregates (MTA) cement during the root canal obturation is gaining concern due to its bioactive characteristic to form an apatite in dentinal tubules. In this regard, this study was to assess the biomineralization of dentinal tubules following root canal obturation by using pozzolan-based (Pz-) MTA sealer cement (EndoSeal MTA, Maruchi). Sixty curved roots (mesiobuccal, distobuccal) from human maxillary molars were instrumented and prepared for root canal obturation. The canals were obturated with gutta-percha (GP) and Pz-MTA sealer by using continuous wave of condensation technique. Canals obturated solely with ProRoot MTA (Dentsply Tulsa Dental) or Pz-MTA sealer were used for comparison. In order to evaluate the biomineralization ability under different conditions, the PBS pretreatment before the root canal obturation was performed in each additional samples. At dentin-material interfaces, the extension of intratubular biomineralization was analyzed using scanning electron microscopy (SEM) and energy dispersive spectroscopy. When the root canal was obturated with GP and Pz-MTA sealer, enhanced biomineralization of the dentinal tubules beyond the penetrated sealer tag was confirmed under the SEM observation (p cement can be used as a promising bioactive root canal sealer to enhance biomineralization of dentinal tubules under controlled environment.

  20. Huge bilateral ovarian cysts in adulthood as the presenting feature of Van Wyk Grumbach syndrome due to chronic uncontrolled juvenile hypothyroidism

    Directory of Open Access Journals (Sweden)

    K S Shivaprasad

    2013-01-01

    Full Text Available Juvenile primary hypothyroidism causing cystic ovaries and pseudoprecocious puberty (Van-Wyk Grumbach syndrome (VWGS is well documented in literature. There are only a few reports of primary hypothyroidism presenting as ovarian cysts in adults. Here we present a case of huge bilateral ovarian cysts in adulthood as the presenting feature of VWGS due to chronic uncontrolled juvenile hypothyroidism. Large uniloculor right ovarian cyst (119 × 81 × 90 mm and a multicystic left ovary (55 × 45 × 49 mm were detected in a 24 year lady with secondary amenorrhea, galactorrhea, and palpable abdominal mass with history of neonatal jaundice, delayed milestones, short stature, and precocious menarche at age of 7.5 years age. She had elevated levels of cancer antigen (CA-125 which normalized post levothyroxine supplementation. Elevated CA-125 may lead to misdiagnosis of ovarian carcinoma and inadvertent treatment. Bilateral ovarian cysts in adults are a rare presentation of juvenile hypothyroidism. It is necessary to screen for primary hypothyroidism in patients presenting with bilateral ovarian cysts to prevent unnecessary evaluation and treatment.

  1. Imaging mass spectrometry visualizes ceramides and the pathogenesis of dorfman-chanarin syndrome due to ceramide metabolic abnormality in the skin.

    Directory of Open Access Journals (Sweden)

    Naoko Goto-Inoue

    Full Text Available Imaging mass spectrometry (IMS is a useful cutting edge technology used to investigate the distribution of biomolecules such as drugs and metabolites, as well as to identify molecular species in tissues and cells without labeling. To protect against excess water loss that is essential for survival in a terrestrial environment, mammalian skin possesses a competent permeability barrier in the stratum corneum (SC, the outermost layer of the epidermis. The key lipids constituting this barrier in the SC are the ceramides (Cers comprising of a heterogeneous molecular species. Alterations in Cer composition have been reported in several skin diseases that display abnormalities in the epidermal permeability barrier function. Not only the amounts of different Cers, but also their localizations are critical for the barrier function. We have employed our new imaging system, capable of high-lateral-resolution IMS with an atmospheric-pressure ionization source, to directly visualize the distribution of Cers. Moreover, we show an ichthyotic disease pathogenesis due to abnormal Cer metabolism in Dorfman-Chanarin syndrome, a neutral lipid storage disorder with ichthyosis in human skin, demonstrating that IMS is a novel diagnostic approach for assessing lipid abnormalities in clinical setting, as well as for investigating physiological roles of lipids in cells/tissues.

  2. Imaging mass spectrometry visualizes ceramides and the pathogenesis of dorfman-chanarin syndrome due to ceramide metabolic abnormality in the skin.

    Science.gov (United States)

    Goto-Inoue, Naoko; Hayasaka, Takahiro; Zaima, Nobuhiro; Nakajima, Kimiko; Holleran, Walter M; Sano, Shigetoshi; Uchida, Yoshikazu; Setou, Mitsutoshi

    2012-01-01

    Imaging mass spectrometry (IMS) is a useful cutting edge technology used to investigate the distribution of biomolecules such as drugs and metabolites, as well as to identify molecular species in tissues and cells without labeling. To protect against excess water loss that is essential for survival in a terrestrial environment, mammalian skin possesses a competent permeability barrier in the stratum corneum (SC), the outermost layer of the epidermis. The key lipids constituting this barrier in the SC are the ceramides (Cers) comprising of a heterogeneous molecular species. Alterations in Cer composition have been reported in several skin diseases that display abnormalities in the epidermal permeability barrier function. Not only the amounts of different Cers, but also their localizations are critical for the barrier function. We have employed our new imaging system, capable of high-lateral-resolution IMS with an atmospheric-pressure ionization source, to directly visualize the distribution of Cers. Moreover, we show an ichthyotic disease pathogenesis due to abnormal Cer metabolism in Dorfman-Chanarin syndrome, a neutral lipid storage disorder with ichthyosis in human skin, demonstrating that IMS is a novel diagnostic approach for assessing lipid abnormalities in clinical setting, as well as for investigating physiological roles of lipids in cells/tissues.

  3. Unique Preservation of Neural Cells in Hutchinson- Gilford Progeria Syndrome Is Due to the Expression of the Neural-Specific miR-9 MicroRNA

    Directory of Open Access Journals (Sweden)

    Xavier Nissan

    2012-07-01

    Full Text Available One puzzling observation in patients affected with Hutchinson-Gilford progeria syndrome (HGPS, who overall exhibit systemic and dramatic premature aging, is the absence of any conspicuous cognitive impairment. Recent studies based on induced pluripotent stem cells derived from HGPS patient cells have revealed a lack of expression in neural derivatives of lamin A, a major isoform of LMNA that is initially produced as a precursor called prelamin A. In HGPS, defective maturation of a mutated prelamin A induces the accumulation of toxic progerin in patient cells. Here, we show that a microRNA, miR-9, negatively controls lamin A and progerin expression in neural cells. This may bear major functional correlates, as alleviation of nuclear blebbing is observed in nonneural cells after miR-9 overexpression. Our results support the hypothesis, recently proposed from analyses in mice, that protection of neural cells from progerin accumulation in HGPS is due to the physiologically restricted expression of miR-9 to that cell lineage.

  4. Unique preservation of neural cells in Hutchinson- Gilford progeria syndrome is due to the expression of the neural-specific miR-9 microRNA.

    Science.gov (United States)

    Nissan, Xavier; Blondel, Sophie; Navarro, Claire; Maury, Yves; Denis, Cécile; Girard, Mathilde; Martinat, Cécile; De Sandre-Giovannoli, Annachiara; Levy, Nicolas; Peschanski, Marc

    2012-07-26

    One puzzling observation in patients affected with Hutchinson-Gilford progeria syndrome (HGPS), who overall exhibit systemic and dramatic premature aging, is the absence of any conspicuous cognitive impairment. Recent studies based on induced pluripotent stem cells derived from HGPS patient cells have revealed a lack of expression in neural derivatives of lamin A, a major isoform of LMNA that is initially produced as a precursor called prelamin A. In HGPS, defective maturation of a mutated prelamin A induces the accumulation of toxic progerin in patient cells. Here, we show that a microRNA, miR-9, negatively controls lamin A and progerin expression in neural cells. This may bear major functional correlates, as alleviation of nuclear blebbing is observed in nonneural cells after miR-9 overexpression. Our results support the hypothesis, recently proposed from analyses in mice, that protection of neural cells from progerin accumulation in HGPS is due to the physiologically restricted expression of miR-9 to that cell lineage.

  5. Dominant inhibition of Fas ligand-mediated apoptosis due to a heterozygous mutation associated with autoimmune lymphoproliferative syndrome (ALPS Type Ib

    Directory of Open Access Journals (Sweden)

    McDonald Jay M

    2007-07-01

    Full Text Available Abstract Background: Autoimmune lymphoproliferative syndrome (ALPS is a disorder of lymphocyte homeostasis and immunological tolerance due primarily to genetic defects in Fas (CD95/APO-1; TNFRSF6, a cell surface receptor that regulates apoptosis and its signaling apparatus. Methods: Fas ligand gene mutations from ALPS patients were identified through cDNA and genomic DNA sequencing. Molecular and biochemical assessment of these mutant Fas ligand proteins were carried out by expressing the mutant FasL cDNA in mammalian cells and analysis its effects on Fas-mediated programmed cell death. Results: We found an ALPS patient that harbored a heterozygous A530G mutation in the FasL gene that replaced Arg with Gly at position 156 in the protein's extracellular Fas-binding region. This produced a dominant-interfering FasL protein that bound to the wild-type FasL protein and prevented it from effectively inducing apoptosis. Conclusion: Our data explain how a naturally occurring heterozygous human FasL mutation can dominantly interfere with normal FasL apoptotic function and lead to an ALPS phenotype, designated Type Ib.

  6. Problems of drinking water treatment along Ismailia Canal Province, Egypt.

    Science.gov (United States)

    Geriesh, Mohamed H; Balke, Klaus-Dieter; El-Rayes, Ahmed E

    2008-03-01

    The present drinking water purification system in Egypt uses surface water as a raw water supply without a preliminary filtration process. On the other hand, chlorine gas is added as a disinfectant agent in two steps, pre- and post-chlorination. Due to these reasons most of water treatment plants suffer low filtering effectiveness and produce the trihalomethane (THM) species as a chlorination by-product. The Ismailia Canal represents the most distal downstream of the main Nile River. Thus its water contains all the proceeded pollutants discharged into the Nile. In addition, the downstream reaches of the canal act as an agricultural drain during the closing period of the High Dam gates in January and February every year. Moreover, the wide industrial zone along the upstream course of the canal enriches the canal water with high concentrations of heavy metals. The obtained results indicate that the canal gains up to 24.06x10(6) m3 of water from the surrounding shallow aquifer during the closing period of the High Dam gates, while during the rest of the year, the canal acts as an influent stream losing about 99.6x10(6) m3 of its water budget. The reduction of total organic carbon (TOC) and suspended particulate matters (SPMs) should be one of the central goals of any treatment plan to avoid the disinfectants by-products. The combination of sedimentation basins, gravel pre-filtration and slow sand filtration, and underground passage with microbiological oxidation-reduction and adsorption criteria showed good removal of parasites and bacteria and complete elimination of TOC, SPM and heavy metals. Moreover, it reduces the use of disinfectants chemicals and lowers the treatment costs. However, this purification system under the arid climate prevailing in Egypt should be tested and modified prior to application.

  7. Overlapping of Serotonin Syndrome with Neuroleptic Malignant Syndrome due to Linezolid-Fluoxetine and Olanzapine-Metoclopramide Interactions: A Case Report of Two Serious Adverse Drug Effects Caused by Medication Reconciliation Failure on Hospital Admission

    Science.gov (United States)

    Akram, Shahzad; Haider, Nafis; Ahmed, Rafeeque

    2016-01-01

    Antipsychotic and antidepressant are often used in combination for the treatment of neuropsychiatric disorders. The concomitant use of antipsychotic and/or antidepressant with drugs that may interact can lead to rare, life-threatening conditions such as serotonin syndrome and neuroleptic malignant syndrome. We describe a patient who has a history of taking two offending drugs that interact with drugs given during the course of hospital treatment which leads to the development of serotonin syndrome overlapped with neuroleptic malignant syndrome. The physician should be aware that both NMS and SS can appear as overlapping syndrome especially when patients use a combination of both antidepressants and antipsychotics. PMID:27433163

  8. Overlapping of Serotonin Syndrome with Neuroleptic Malignant Syndrome due to Linezolid-Fluoxetine and Olanzapine-Metoclopramide Interactions: A Case Report of Two Serious Adverse Drug Effects Caused by Medication Reconciliation Failure on Hospital Admission

    Directory of Open Access Journals (Sweden)

    Faizan Mazhar

    2016-01-01

    Full Text Available Antipsychotic and antidepressant are often used in combination for the treatment of neuropsychiatric disorders. The concomitant use of antipsychotic and/or antidepressant with drugs that may interact can lead to rare, life-threatening conditions such as serotonin syndrome and neuroleptic malignant syndrome. We describe a patient who has a history of taking two offending drugs that interact with drugs given during the course of hospital treatment which leads to the development of serotonin syndrome overlapped with neuroleptic malignant syndrome. The physician should be aware that both NMS and SS can appear as overlapping syndrome especially when patients use a combination of both antidepressants and antipsychotics.

  9. Lenalidomide: a review of its use in patients with transfusion-dependent anaemia due to low- or intermediate-1-risk myelodysplastic syndrome associated with 5q chromosome deletion.

    Science.gov (United States)

    Syed, Yahiya Y; Scott, Lesley J

    2013-07-01

    Lenalidomide (Revlimid(®)), a thalidomide analogue, is an orally administered second generation immunomodulator with anti-angiogenic, antineoplastic, anti-inflammatory and pro-erythropoietic properties. It is approved for the treatment of patients with transfusion-dependent anaemia due to International Prognostic Scoring System low- or intermediate-1-risk myelodysplastic syndrome (MDS) associated with either chromosome 5q deletion [del(5q)] with or without additional cytogenetic abnormalities (US, Japan and Switzerland etc.), or with an isolated del(5q) cytogenetic abnormality when other therapeutic options are insufficient or inadequate (EU) [featured indication]. In a randomized, double-blind, multicentre, registrational trial (MDS-004; n = 205) in this patient population, a significantly higher proportion of lenalidomide recipients than placebo recipients achieved red blood cell transfusion independence for ≥26 consecutive weeks (primary endpoint for efficacy) and cytogenetic responses. The erythroid response to lenalidomide was accompanied by an increase in the haemoglobin levels. These efficacy outcomes are generally consistent with those seen in an earlier noncomparative registrational trial (MDS-003; n = 148). In MDS-004, lenalidomide also significantly improved health-related quality of life compared with placebo at 12 weeks. Retrospective analyses that compared outcomes between lenalidomide-treated patients with low- or intermediate-1-risk del(5q) MDS and multicentre registry cohorts showed that lenalidomide treatment did not appear to increase the risk of progression to acute myeloid leukaemia. Lenalidomide had a manageable safety profile in the registrational trials, with ≤20 % of patients discontinuing treatment because of adverse events. The most common adverse events (incidence ≥20 %) occurring in lenalidomide recipients were thrombocytopenia and neutropenia, which were generally managed by dosage reductions and/or interruptions, and

  10. Hearing loss in the Saethre-Chotzen syndrome.

    Science.gov (United States)

    Ensink, R J; Marres, H A; Brunner, H G; Cremers, C W

    1996-10-01

    A three-generation family with Saethre-Chotzen syndrome and an isolated case are presented. The proband presented with conductive hearing loss. His mother and grandmother showed minor features of the syndrome including conductive hearing loss. Symptoms of the craniosynostosis syndromes can include stapes ankylosis, a fixed ossicular chain in a too small epitympanum, and small or even absent mastoids. The proband was treated with a bone-anchored hearing aid (BAHA) instead of reconstructive middle ear surgery. Current literature on the results of ear surgery is reviewed. In general, reconstructive middle ear surgery should be considered if congenital anomalies of the middle ear are the only presenting symptom. In cases with additional anomalies such as atresia of the ear canal or damage due to chronic ear infections, the outcome of reconstructive surgery to correct the anomalous ossicular chain is unsatisfactory. In such cases of the BAHA is probably the best solution.

  11. 75 FR 39632 - Regulated Navigation Area; Gulf Intracoastal Waterway, Inner Harbor Navigation Canal, Harvey...

    Science.gov (United States)

    2010-07-12

    ..., Inner Harbor Navigation Canal, Harvey Canal, Algiers Canal, New Orleans, LA; Correction ACTION: Interim... Navigation Canal, Harvey Canal, Algiers Canal, New Orleans, LA into the Code of Federal Regulations....

  12. Thoracic aortic aneurysm in infancy in aneurysms-osteoarthritis syndrome due to a novel SMAD3 mutation: further delineation of the phenotype

    NARCIS (Netherlands)

    Wischmeijer, A.; Laer, L. van; Tortora, G.; Bolar, N.A.; Camp, G. van; Fransen, E.; Peeters, N.; Bartolomeo, R. di; Pacini, D.; Gargiulo, G.; Turci, S.; Bonvicini, M.; Mariucci, E.; Lovato, L.; Brusori, S.; Ritelli, M.; Colombi, M.; Garavelli, L.; Seri, M.; Loeys, B.L.

    2013-01-01

    Recently, mutations in the SMAD3 gene were found to cause a new autosomal dominant aneurysm condition similar to Loeys-Dietz syndrome (LDS), mostly with osteoarthritis, called aneurysms-osteoarthritis syndrome (AOS). Our 3-year-old propositus underwent correction of an inguinal hernia at 3 months an

  13. Switch in FGFR3 and -4 expression profile during human renal development may account for transient hypercalcemia in patients with Sotos syndrome due to 5q35 microdeletions

    NARCIS (Netherlands)

    Mutsaers, Henricus A M; Levtchenko, Elena N; Martinerie, Laetitia; Pertijs, Jeanne C L M; Allegaert, Karel; Devriendt, Koenraad; Masereeuw, Roos; Monnens, Leo A H; Lombès, Marc

    2014-01-01

    CONTEXT: Sotos syndrome is a rare genetic disorder with a distinct phenotypic spectrum including overgrowth and learning difficulties. Here we describe a new case of Sotos syndrome with a 5q35 microdeletion, affecting the fibroblast growth factor receptor 4 (FGFR4) gene, presenting with infantile hy

  14. Autosomal dominant Carvajal plus syndrome due to the novel desmoplakin mutation c.1678A > T (p.Ile560Phe

    Directory of Open Access Journals (Sweden)

    Josef Finsterer

    2016-09-01

    Conclusion: Phenotypic manifestations of Carvajal syndrome are even broader than so far anticipated, the number of mutations in the desmoplakin gene responsible for Carvajal syndrome is still increasing, and these patients require implantation of an ICD as soon as their diagnosis is established.

  15. Methotrexate-induced side effects are not due to differences in pharmacokinetics in children with down syndrome and acute lymphoblastic leukemia

    NARCIS (Netherlands)

    T.D. Buitenkamp (Trudy); R.A.A. Mathôt (Ron); V. de Haas (Valerie); R. Pieters (Rob); C.M. Zwaan (Christian Michel)

    2010-01-01

    textabstractBackground Children with Down syndrome have an increased risk of developing acute lymphoblastic leukemia and a poor tolerance of methotrexate. This latter problem is assumed to be caused by a higher cellular sensitivity of tissues in children with Down syndrome. However, whether differen

  16. Intussusception due to Peutz-Jeghers syndrome - a case report and review of the literature; Sindrome de Peutz-Jeghers e intussuscepcao - relato de um caso e revisao da literatura

    Energy Technology Data Exchange (ETDEWEB)

    Grasso Filho, Luiz Eduardo; Albertotti, Flavio; Carvalho, Claudio Sobral de; Nersessian, Ana Carolina; Docema, Marcos F. Lima; Ogasawara, Aparecida M.; Peng Yong Sheng [Hospital Sirio Libanes, Sao Paulo, SP (Brazil). Centro de Diagnostico por Imagem; Costacurta, Marco Antonio [Hospital Sirio Libanes, Sao Paulo, SP (Brazil). Servico de Radiologia Geral; Albertotti, Cesar Jose [Hospital Sirio Libanes, Sao Paulo, SP (Brazil). Servico de Tomografia Computadorizada; Cerri, Giovanni Guido [Hospital Sirio Libanes, Sao Paulo, SP (Brazil). Servico de Ultra-Som

    2000-02-01

    The authors report a case of a 28-year-old woman with ileocecocolic intussusception due to Peutz-Jeghers syndrome, an autosomal dominant disorder characterized by hamartomatous polyposis of the gastrointestinal tract and mucocutaneous pigmentation. This condition frequently presents complications such as intestinal obstruction due to invagination or hemorrhage. In this patient, the diagnosis of intussusception was made preoperatively. The excised material revealed three large polyps which were considered to be the cause of the intussusception. (author)

  17. A three-generation family with terminal microdeletion involving 5p15.33-32 due to a whole-arm 5;15 chromosomal translocation with a steady phenotype of atypical cri du chat syndrome.

    Science.gov (United States)

    Elmakky, Amira; Carli, Diana; Lugli, Licia; Torelli, Paola; Guidi, Battista; Falcinelli, Cristina; Fini, Sergio; Ferrari, Fabrizio; Percesepe, Antonio

    2014-03-01

    Cri du chat syndrome is characterized by cat-like cry, facial dysmorphisms, microcephaly, speech delay, intellectual disability and slow growth rate, which are present with variable frequency. The typical cri du chat syndrome, due to 5p15.2 deletion, includes severe intellectual disability, facial dysmorphisms, neonatal hypotonia and pre- and post-natal growth retardation, whereas more distal deletions in 5p15.3 lead to cat-like cry and speech delay and produce the clinical picture of the atypical cri du chat syndrome, with minimal or absent intellectual impairment. In this article we report a three-generation family with an unbalanced whole arm translocation between chromosome 5 and 15 and a microdeletion of 5.5 Mb involving 5p15.33-32. By reporting the smallest terminal deletion of 5p15.3 described so far and by reviewing the literature we discuss the genotype/phenotype correlations of the distal region of the cri du chat syndrome. The previously described critical region for the speech delay may be narrowed down and microcephaly, growth retardation and dysmorphic facial features can be included in the phenotypic expression of the atypical cri du chat syndrome due to 5p15.3 deletions.

  18. Early Squamous Cell Carcinoma of the Anal Canal Resected by Endoscopic Submucosal Dissection

    Directory of Open Access Journals (Sweden)

    Yuzuru Tamaru

    2015-04-01

    Full Text Available The standard treatment approach for squamous cell carcinoma (SCC of the anal canal includes abdominoperineal resection and chemoradiotherapy. However, there are currently very few reports of early SCC of the anal canal resected by endoscopic submucosal dissection (ESD. We report 2 rare cases of SCC of the anal canal resected by ESD. In case 1, a 66-year-old woman underwent a colonoscopy due to blood in her stool, and an elevated lesion, 15 mm in size, was identified from the rectum to the dentate line of the anal canal on internal hemorrhoids. The lesion was diagnosed as an early SCC of the anal canal, and ESD was successfully performed. The histopathological diagnosis was SCC in situ. In case 2, a 71-year-old woman underwent a colonoscopy due to constipation, and an elevated lesion, 25 mm in size, was identified from the dentate line to the anal canal. The lesion was diagnosed as early-stage SCC of the anal canal, and ESD was successfully performed. The histopathological diagnosis was SCC in situ. No complications or recurrence after ESD occurred in either case.

  19. Real-world analysis of the Celgene Global Drug Safety database: early discontinuation of lenalidomide in patients with myelodysplastic syndromes due to non-serious rash

    Directory of Open Access Journals (Sweden)

    Weiss L

    2015-09-01

    Full Text Available Lilia Weiss,1 Dianna Gary,1 Arlene S Swern,2 John Freeman,1 Mary M Sugrue3 1Global Drug Safety, Celgene Corporation, Summit, 2Biometrics, Celgene Corporation, Berkeley Heights, 3Medical Affairs, Celgene Corporation, Summit, NJ, USA Background: Lenalidomide is approved for treating transfusion-dependent anemia due to lower-risk del(5q myelodysplastic syndromes (MDS. In clinical trials, rash was common, although severe rash was infrequent. To examine rash in patients with MDS treated with lenalidomide in the real world, the Celgene Global Drug Safety database was analyzed and compared with clinical trials.Materials and methods: Adverse event reports in the post-marketing setting and in the MDS-003/004 clinical trials were analyzed by action taken with lenalidomide, seriousness/grade, time to onset, and treatment duration.Results: Globally, 16,942 reports representing 36,793 adverse events from the post-marketing setting were submitted to the Global Drug Safety database between December 27, 2005 and June 13, 2013. Most rash adverse events were non-serious (Global Drug Safety database, 91% or grade 1/2 (MDS-003/004 trials, 87%–93%. Unexpectedly, rash, occurring at a median of 9 days after treatment initiation, was the leading cause of permanent discontinuation of lenalidomide. Seventy-two percent of non-serious rash adverse events led to early permanent discontinuation within two cycles, while in the MDS-003/004 pivotal clinical trials, only 2%–3% of rash adverse events led to permanent discontinuation.Conclusion: Non-serious rash was the most common reason for permanent discontinuation of lenalidomide in real-world settings. Managing lenalidomide-related rash using published recommendations might improve treatment duration and optimize patient outcomes. Keywords: adverse events, safety, post-marketing setting 

  20. Long-term effect of extracorporeal shock wave therapy on the treatment of chronic pelvic pain syndrome due to non bacterial prostatitis

    Directory of Open Access Journals (Sweden)

    Amir Moayednia

    2014-01-01

    Full Text Available Background: There is limited evidence about the chronic pelvic pain syndrome (CPPS treatment by shockwave therapy, and the aim of this study was to evaluate the effect of extracorporeal shockwave therapy on CPPS due to non bacterial prostatitis in a long-term period. Materials and Methods: In a follow-up survey, 40 patients with CPPS (that were randomly distributed into the treatment or sham groups were evaluated at 16, 20, and 24 weeks. In the treatment group, patients were treated by extracorporeal shock wave therapy (ESWT once a week for 4 weeks by a protocol of 3000 impulses, 0.25 mJ/m 2 and 3 Hz of frequency. 0.05 mJ/m 2 were added in each week. In the sham group, the same protocol was applied, but with the probe being turned off. The follow-up assessments were done by visual analog scale for pain and National Institutes of Health-developed Chronic Prostatitis Symptom Index (NIH-CPSI. Data were compared using independent t-test or analysis of variences. Results: Three patients did not complete the study protocol, 37 patients were evlauated (19 patients in treatment and 18 patients in the sham group. At week 24, the mean of pain score, urinary score, quality-of-life and NIH-CPSI score between two groups were not statistically different. Conclusion: Although, ESWT therapy as a safe and effective therapy in CPPS in short-term follow-up has been established, its long-term efficacy was not supported by this study.

  1. Risk assessment of medically assisted reproduction and advanced maternal ages in the development of Prader-Willi syndrome due to UPD(15)mat.

    Science.gov (United States)

    Matsubara, K; Murakami, N; Fukami, M; Kagami, M; Nagai, T; Ogata, T

    2016-05-01

    Recent studies have suggested that disomic oocyte-mediated uniparental disomy 15 (UPD(15)mat) is increased in patients with Prader-Willi syndrome (PWS) born after medically assisted reproduction (MAR). However, it remains unknown whether the increase is primarily due to MAR procedure itself or advanced maternal childbearing ages as a predisposing factor for the disomic oocyte production. To examine this matter, we studied 122 naturally conceived PWS patients (PWS-NC group) and 13 MAR-conceived patients (PWS-MAR group). The relative frequency of disomic oocyte-mediated UPD(15)mat was significantly higher in PWS-MAR group than in PWS-NC group (7/13 vs 20/122, p = 0.0045), and the maternal childbearing ages were significantly higher in PWS-MAR group than in PWS-NC group [median (range), 38 (26-45) vs 30 (19-42), p = 0.0015]. However, the logistic regression analysis revealed no significant association between the occurrence of disomic oocyte-mediated UPD(15)mat and MAR, after adjusting for childbearing age (p = 0.25). Consistent with this, while the frequency of assisted reproductive technology (ART)-conceived livebirths was higher in the PWS patients than in the Japanese general population (6.4% vs 1.1%, p = 0.00018), the distribution of childbearing ages was significantly skewed to the increased ages in the PWS patients (p < 2.2 × 10(-16) ). These results argue against a positive association of MAR procedure itself with the development of UPD(15)mat.

  2. Cortical evoked potentials in response to rapid balloon distension of the rectum and anal canal

    DEFF Research Database (Denmark)

    Haas, S; Brock, C; Krogh, K

    healthy women received 30 RBDs in the rectum and the anal canal at intensities corresponding to sensory and unpleasantness thresholds, and response was recorded as cortical evoked potentials (CEPs) in 64-channels. The anal canal stimulations at unpleasantness level were repeated after 4 min to test...... showed reproducibility with ICCs for all bands >0.8 and corresponding CVs potentials evoked from the anal canal are challenged by latency jitter likely related to variability in muscle tone due to the distensions. Using single-sweep analysis, anal CEPs proved...

  3. Shape and Deformation Analysis of the Human Ear Canal

    DEFF Research Database (Denmark)

    Darkner, Sune

    This thesis presents work on the analysis of the dynamic behavior of the human ear canal. The work is based on two studies designed during the project, a pilot study with 30 normal hearing subjects and a main study with 42 hearing impaired subjects, all hearing-aid users. The main focus is on the......This thesis presents work on the analysis of the dynamic behavior of the human ear canal. The work is based on two studies designed during the project, a pilot study with 30 normal hearing subjects and a main study with 42 hearing impaired subjects, all hearing-aid users. The main focus...... is on the extraction and analysis of the shape and deformation of the ear canal due to movements of the mandible, leaning over, and turning of the head. Methods for surface registration with focus on non-rigid registration are presented, as well as a wide range of statistical methods used for analyzing the shapes...... and deformation fields. The results show that the ear canal changes shape significantly in all subjects and that the deformation is more complicated than previously described in the literature. It is shown that the deformation at specific locations in the ear is significantly correlated to comfort issues reported...

  4. Budd-Chiari and inferior caval vein syndromes due to membranous obstruction of the liver veins. Successful treatment with angioplasty and transcaval TIPS

    DEFF Research Database (Denmark)

    Holland-Fischer, Peter

    2004-01-01

    -up the stents remain open and the patient is symptom free. This successful combination of stent placement and TIPS has not been described before. The case report is followed by a review of the literature on the use of angioplasty in short hepatic vein stenosis and TIPS in Budd-Chiari syndrome. It is concluded...... that angioplasty and TIPS are safe and efficient procedures to reduce liver engorgement and complications of portal hypertension in selected patients with Budd-Chiari syndrome....

  5. Nested Canalizing Functions and Their Networks

    CERN Document Server

    Kadelka, Claus; Adeyeye, John O; Laubenbacher, Reinhard

    2014-01-01

    The concept of a nested canalizing Boolean function has been studied over the last decade in the context of understanding the regulatory logic of molecular interaction networks, such as gene regulatory networks. Such networks are predominantly governed by nested canalizing functions. Derrida values are frequently used to analyze the robustness of a Boolean network to perturbations. This paper introduces closed formulas for the calculation of Derrida values of networks governed by Boolean nested canalizing functions, which previously required extensive simulations. Recently, the concept of nested canalizing functions has been generalized to include multistate functions, and a recursive formula has been derived for their number, as a function of the number of variables. This paper contains a detailed analysis of the class of nested canalizing functions over an arbitrary finite field. In addition, the concept of nested canalization is further generalized and closed formulas for the number of such generalized fun...

  6. Stability of guest molecules in urea canal complexes by canal polymerization

    Energy Technology Data Exchange (ETDEWEB)

    Yoshii, Fumio; Makuuchi, Keizo [Japan Atomic Energy Research Inst., Takasaki, Gunma (Japan). Takasaki Radiation Chemistry Research Establishment

    1995-03-01

    It was found that various organic materials are attracted into urea canal by hexanediol diacrylate (HDDA) and long chain compounds. This means that materials which does not form complex by itself are induced in canal by HDDA and long chain compounds. To include with stability perfumes, insecticides, attractants and repellents in urea canal, leaf alcohol was used as a model compound for guest molecules in the canal. The leaf alcohol from the canal released gradually over many days and the release was inhibited for 15 days by long chain compounds and for 30 days by polymerized HDDA after irradiation. After releasing, the leaf alcohol in the canal remained 25 % stable for long chain compounds and 40 % for polymerized HDDA. The dose required for stabilization of leaf alcohol in the urea canal by canal polymerization of HDDA was 30 kGy. (author).

  7. Canals, DMADCanals-Irrigation canals in Millard Co., Published in 2007, Millard County.

    Data.gov (United States)

    NSGIC GIS Inventory (aka Ramona) — This Canals dataset, was produced all or in part from Other information as of 2007. It is described as 'DMADCanals-Irrigation canals in Millard Co.'. Data by this...

  8. MRI Findings in Spinal Canal Stenosis

    OpenAIRE

    Maryam Barzin

    2010-01-01

    Spinal canal stenosis results from progressive narrowing of the central spinal canal and the lateral recesses. Primary (congenital) lumbar spinal stenosis is associated with achondroplastic dwarfism. The spinal canal may become narrowed by bulging or protrusion of the intervertebral disc annulus, herniation of the nucleus pulposus posteriorly, thickening of the posterior longitudinal ligament, hypertrophy of the facet joints, hypertrophy of the ligamentum flavum, epidural fat deposition, spon...

  9. Modelling of Buckingham Canal water quality.

    Science.gov (United States)

    Abbasi, S A; Khan, F I; Sentilvelan, K; Shabudeen, A

    2002-10-01

    The paper presents a case study of the modelling of the water quality of a canal situated in a petrochemical industrial complex, which receives wastewaters from Madras Refineries Limited (MRL), and Madras Fertilizers Limited (MFL). The canal well known Buckingham Canal which passes through Chennai (Madras), India has been modelled using the software QUAL2E-UNCAS. After testing and validation of the model, simulations have been carried out. The exercise enables forecasting the impacts of different seasons, base flows, and waste water inputs on the water quality of the Buckingham Canal. It also enables development of water management strategies.

  10. Endogenous Cushing’s Syndrome with Precocious Puberty in an 8-Year-Old Boy due to a Large Unilateral Adrenal Adenoma

    Directory of Open Access Journals (Sweden)

    Muhammad Rajib Hossain

    2013-01-01

    Full Text Available Adrenocortical tumors (ACTs causing Cushing’s syndrome are extremely rare in children and adolescents. Bilateral macronodular adrenocortical disease which is a component of the McCune-Albright syndrome is the most common cause of endogenous Cushing’s syndrome. We report the case of a boy with Cushing’s syndrome who presented with obesity and growth retardation. The child was hypertensive. The biochemical evaluation revealed that his serum cortisol levels were 25.80 g/dL, with a concomitant plasma ACTH level of 10.0 pg/mL and nonsuppressed serum cortisol on high-dose dexamethasone suppression test (HDDST to be 20.38 g/dL. Computed tomography of the abdomen demonstrated a 8 × 6 × 5 cm left adrenal mass with internal calcifications. Following preoperative stabilization, laparotomy was carried out which revealed a lobulated left adrenal mass with intact capsule weighing 120 grams. Histopathological examination revealed a benign cortical neoplastic lesion, suggestive of adrenal adenoma; composed of large polygonal cells with centrally placed nuclei and prominent nucleoli without capsular and vascular invasion. On the seventh postoperative day, cortisol levels were within normal range indicating biochemical remission of Cushing’s syndrome. On followup after three months, the patient showed significant clinical improvement and had lost moderate amount of weight and adrenal imaging was found to be normal.

  11. Lemierre's syndrome due to community-acquired meticillin-resistant Staphylococcus aureus infection and presenting with orbital cellulitis: a case report

    Directory of Open Access Journals (Sweden)

    Kadhiravan Tamilarasu

    2008-12-01

    Full Text Available Abstract Introduction Lemierre's syndrome is septic thrombophlebitis of the internal jugular vein leading to metastatic septic complications following an oropharyngeal infection. It is usually caused by the anaerobe, Fusobacterium necrophorum. Of late, meticillin-resistant Staphylococcus aureus is increasingly being recognised as a cause of community-acquired skin and soft tissue infections. We report a rare case of Lemierre's syndrome caused by community-acquired meticillin-resistant Staphylococcus aureus infection. Case presentation A previously healthy 16-year-old girl presented with fever of 13 days duration, painful swelling around the right eye and diplopia followed by the appearance of pulmonary infiltrates. Imaging studies confirmed the clinical suspicion of bilateral jugular venous thrombosis with septic pulmonary embolism. Meticillin-resistant Staphylococcus aureus was isolated on blood cultures. The hospital course was complicated by massive haemoptysis and pulmonary aspiration necessitating mechanical ventilation. The patient subsequently made a complete recovery. Conclusion Lemierre's syndrome, although rare, is a potentially lethal but treatable complication of head and neck sepsis. Early clinical recognition of Lemierre's syndrome and appropriate antibiotic treatment can be life-saving. One should consider the possibility of community-acquired meticillin-resistant Staphylococcus aureus infection in patients with suspected Lemierre's syndrome.

  12. Narrow, duplicated internal auditory canal

    Energy Technology Data Exchange (ETDEWEB)

    Ferreira, T. [Servico de Neurorradiologia, Hospital Garcia de Orta, Avenida Torrado da Silva, 2801-951, Almada (Portugal); Shayestehfar, B. [Department of Radiology, UCLA Oliveview School of Medicine, Los Angeles, California (United States); Lufkin, R. [Department of Radiology, UCLA School of Medicine, Los Angeles, California (United States)

    2003-05-01

    A narrow internal auditory canal (IAC) constitutes a relative contraindication to cochlear implantation because it is associated with aplasia or hypoplasia of the vestibulocochlear nerve or its cochlear branch. We report an unusual case of a narrow, duplicated IAC, divided by a bony septum into a superior relatively large portion and an inferior stenotic portion, in which we could identify only the facial nerve. This case adds support to the association between a narrow IAC and aplasia or hypoplasia of the vestibulocochlear nerve. The normal facial nerve argues against the hypothesis that the narrow IAC is the result of a primary bony defect which inhibits the growth of the vestibulocochlear nerve. (orig.)

  13. Subclinical Cushing's syndrome due to unilateral or bilateral adrenal incidentalomas. Problems of diagnostic and indication to surgical treatment. Review of literature

    Directory of Open Access Journals (Sweden)

    Nikolay Sergeevich Kuznetsov

    2015-05-01

    Full Text Available Today subclinical Cushing's syndrome is the most widespread variant of hormonal activity of incidentaloma's hormonal activity. This pathology is defined as a mild intensity autonomous cortisol hypersecretion, not causing specific clinical signs of hypercorticism, but detectable biochemically as derangements of the hypothalamic-pituitary-adrenal axis function. Some clinical symptomatology of metabolic syndrome, such as obesity, impaired carbohydrate metabolism and hypertension, are peculiar to subclinical hypercorticism more than to population. As a result all these symptomatology could lead to increasing cardiovascular risk. Till now there isn't a definite opinion about the need of surgical treatment of present pathology. But there is evidence, that after removing of incidentalomas clinical symptomatology of metabolic syndrome are improving. For understanding all possible risks, connected with subclinical hypercorticism, it's necessary to study the origins of their arising and present about the most adequate screening tests. 

  14. Central Anticholinergic Syndrome due to Hypoxia-Induced Bradycardia in a Child with Difficult Intubation Undergoing Complete Dental Restoration: A Case Report.

    Science.gov (United States)

    Gharavifard, Mohamad; Razavi, Majid; Ghandehari Motlagh, Mehdi; Ziyaeifard, Mohsen

    2014-09-01

    Central anticholinergic syndrome (CAS) following general anesthesia (GA) is a well known syndrome in children and adults. Many cases of CAS have been previously reported in the literature. However, there are only two reports of post resuscitation CAS after administration of small doses of atropine. Hereby, we report a case of CAS in a child undergoing complete dental restoration under GA after receiving a small dose of atropine to reverse hypoxia induced bradycardia. Intraoperative events such as hypoxia or cardiac arrest may play a role as triggers for CAS. However, we cannot establish a causal relationship between the occurrence of CAS and such critical events.

  15. Central Anticholinergic Syndrome due to Hypoxia-Induced Bradycardia in a Child with Difficult Intubation Undergoing Complete Dental Restoration: A Case Report.

    Directory of Open Access Journals (Sweden)

    Mohamad Gharavifard

    2014-10-01

    Full Text Available Central anticholinergic syndrome (CAS following general anesthesia (GA is a well known syndrome in children and adults. Many cases of CAS have been previously reported in the literature. However, there are only two reports of post resuscitation CAS after administration of small doses of atropine. Hereby, we report a case of CAS in a child undergoing complete dental restoration under GA after receiving a small dose of atropine to reverse hypoxia induced bradycardia. Intraoperative events such as hypoxia or cardiac arrest may play a role as triggers for CAS. However, we cannot establish a causal relationship between the occurrence of CAS and such critical events.

  16. Upper esophageal web due to a ring formed by a squamocolumnar junction with ectopic gastric mucosa (another explanation of the Paterson-Kelly, Plummer-Vinson syndrome).

    Science.gov (United States)

    Weaver, G A

    1979-12-01

    A patient is presented with Barrett's esophagus (lower esophagus lined with columnar epithelium) who also has a band of columnar epithelium in the upper esophagus separated from that below by normal squamous epithelium in the midesophagus. The upper most squamocolumnar junction coincided with or formed a mucosal ring as seen at endoscopy. This ring, which was first seen on barium swallow, has the radiographic appearance of that associated with the Paterson-Kelly syndrome. This patient's unique findings may provide further insight into the etiology of upper esophageal webs or rings (Paterson-Kelly syndrome).

  17. [Upper lateral incisor with 2 canals].

    Science.gov (United States)

    Fabra Campos, H

    1991-01-01

    Clinical case summary of the patient with an upper lateral incisor with two root canals. The suspicion that there might be an anatomic anomaly in the root that includes a complex root canal system was made when an advanced radicular groove was detected in the lingual surface or an excessively enlarged cingulum.

  18. Bilateral duplication of the internal auditory canal

    Energy Technology Data Exchange (ETDEWEB)

    Weon, Young Cheol; Kim, Jae Hyoung; Choi, Sung Kyu [Seoul National University College of Medicine, Department of Radiology, Seoul National University Bundang Hospital, Seongnam-si (Korea); Koo, Ja-Won [Seoul National University College of Medicine, Department of Otolaryngology, Seoul National University Bundang Hospital, Seongnam-si (Korea)

    2007-10-15

    Duplication of the internal auditory canal is an extremely rare temporal bone anomaly that is believed to result from aplasia or hypoplasia of the vestibulocochlear nerve. We report bilateral duplication of the internal auditory canal in a 28-month-old boy with developmental delay and sensorineural hearing loss. (orig.)

  19. 33 CFR 117.285 - Grand Canal.

    Science.gov (United States)

    2010-07-01

    ... 33 Navigation and Navigable Waters 1 2010-07-01 2010-07-01 false Grand Canal. 117.285 Section 117.285 Navigation and Navigable Waters COAST GUARD, DEPARTMENT OF HOMELAND SECURITY BRIDGES DRAWBRIDGE OPERATION REGULATIONS Specific Requirements Florida § 117.285 Grand Canal. (a) The draw of the Lansing Island bridge, mile 0.7, shall open on...

  20. 33 CFR 117.453 - Houma Canal.

    Science.gov (United States)

    2010-07-01

    ... 33 Navigation and Navigable Waters 1 2010-07-01 2010-07-01 false Houma Canal. 117.453 Section 117.453 Navigation and Navigable Waters COAST GUARD, DEPARTMENT OF HOMELAND SECURITY BRIDGES DRAWBRIDGE OPERATION REGULATIONS Specific Requirements Louisiana § 117.453 Houma Canal. The draw of the S3197 bridge, mile 1.7 at Houma, shall open on signal...

  1. 33 CFR 117.438 - Company Canal.

    Science.gov (United States)

    2010-07-01

    ... 33 Navigation and Navigable Waters 1 2010-07-01 2010-07-01 false Company Canal. 117.438 Section 117.438 Navigation and Navigable Waters COAST GUARD, DEPARTMENT OF HOMELAND SECURITY BRIDGES DRAWBRIDGE OPERATION REGULATIONS Specific Requirements Louisiana § 117.438 Company Canal. (a) The draw of the S1 bridge, mile 0.4 at Lockport, shall open...

  2. Neuronal hyperplasia in the anal canal

    DEFF Research Database (Denmark)

    Fenger, C; Schrøder, H D

    1990-01-01

    In a consecutive series of minor surgical specimens from the anal canal, neuronal hyperplasia was found in nine of 56 haemorrhoidectomy specimens and in four of 23 fibrous polyps. In an additional series of 14 resections of the anal canal, neuronal hyperplasia was present in six cases, of which...

  3. 33 CFR 117.787 - Gowanus Canal.

    Science.gov (United States)

    2010-07-01

    ... 33 Navigation and Navigable Waters 1 2010-07-01 2010-07-01 false Gowanus Canal. 117.787 Section 117.787 Navigation and Navigable Waters COAST GUARD, DEPARTMENT OF HOMELAND SECURITY BRIDGES DRAWBRIDGE OPERATION REGULATIONS Specific Requirements New York § 117.787 Gowanus Canal. The draws of the Ninth Street Bridge, mile 1.4, the Third...

  4. Blending Canal Surfaces Based on PH Curves

    Institute of Scientific and Technical Information of China (English)

    Chen-Dong Xu; Fa-Lai Chen

    2005-01-01

    In this paper, a new method for blending two canal surfaces is proposed. The blending surface is itself a generalized canal surface, the spine curve of which is a PH (Pythagorean-Hodograph) curve. The blending surface possesses an attractive property - its representation is rational. The method is extensible to blend general surfaces as long as the blending boundaries are well-defined.

  5. 33 CFR 117.445 - Franklin Canal.

    Science.gov (United States)

    2010-07-01

    ... 33 Navigation and Navigable Waters 1 2010-07-01 2010-07-01 false Franklin Canal. 117.445 Section 117.445 Navigation and Navigable Waters COAST GUARD, DEPARTMENT OF HOMELAND SECURITY BRIDGES DRAWBRIDGE OPERATION REGULATIONS Specific Requirements Louisiana § 117.445 Franklin Canal. The draw of the Chatsworth Bridge, mile 4.8 at Franklin, shall...

  6. 33 CFR 117.1045 - Hood Canal.

    Science.gov (United States)

    2010-07-01

    ... 33 Navigation and Navigable Waters 1 2010-07-01 2010-07-01 false Hood Canal. 117.1045 Section 117.1045 Navigation and Navigable Waters COAST GUARD, DEPARTMENT OF HOMELAND SECURITY BRIDGES DRAWBRIDGE OPERATION REGULATIONS Specific Requirements Washington § 117.1045 Hood Canal. The draw of the Washington State pontoon highway bridge near...

  7. DESIGN OF SEDIMENT TRANSPORTING CANAL SECTIONS

    Institute of Scientific and Technical Information of China (English)

    Prabhata K.SWAMEE; Nimisha SWAMEE

    2004-01-01

    Design equations for minimum area or maximum velocity canal-sections for transport of bulk sediment carried by water have been obtained. Such canals are economically feasible in the terrain where large slopes are available. The design procedure is illustrated by a practical example.

  8. Somatostatin analogues do not affect calcium metabolism in patients with acromegaly and primary hyperparathyroidism [corrected] due to MEN 1-like syndrome.

    Science.gov (United States)

    Bogazzi, F; Lombardi, M; Russo, D; Sardella, C; Raggi, F; Brogioni, S; Cetani, F; Ceccarelli, C; Mariani, G; Basolo, F; Martino, E

    2011-02-01

    Patients with clinical features of MEN 1 without mutations in the menin gene fulfill the criteria of MEN1-like syndrome. Primary hyperparathyroidism (PHP) is the most frequent clinical finding in both syndromes and is usually treated by surgery. However, PHP has been reported to respond to somatostatin analogues (SSA) in MEN 1 patients. 7 patients with PHP in the context of MEN 1-like syndrome (and absence of mutations in the menin gene) were enrolled in the study and treated with SSA for 6 months for the non-PHP disease before parathyroidectomy. Serum ionized calcium, phosphorus, and PTH concentrations, and 24-h urinary calcium and phosphorus excretion were measured before and after SSA therapy. Mean serum ionized calcium, phosphorus, and PTH concentrations did not significantly change after a 6-month course with SSA. SSA scintigraphy did not reveal uptake in the neck region corresponding to the parathyroid adenoma identified at surgery and confirmed at histology. However, immunohistochemistry revealed SS-type 2A receptor in parathyroid tissue samples of 6 out of 7 patients. SSA therapy does not affect calcium-phosphorus metabolism in patients with MEN 1-like syndrome, suggesting that the drug has no role in controlling PHP in these subset of patients.

  9. MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression.

    NARCIS (Netherlands)

    Frints, S.G.; Lenzner, S.; Bauters, M.; Jensen, L.R.; Esch, H. van; Portes, V. des; Moog, U.; Macville, M.V.; Roozendaal, K. van; Schrander-Stumpel, C.T.; Tzschach, A.; Marynen, P.; Fryns, J.P.; Hamel, B.C.J.; Bokhoven, H. van; Chelly, J.; Beldjord, C.; Turner, G.; Gecz, J.; Moraine, C.; Raynaud, M.; Ropers, H.H.; Froyen, G.; Kuss, A.W.

    2008-01-01

    Mutations in the thyroid monocarboxylate transporter 8 gene (MCT8/SLC16A2) have been reported to result in X-linked mental retardation (XLMR) in patients with clinical features of the Allan-Herndon-Dudley syndrome (AHDS). We performed MCT8 mutation analysis including 13 XLMR families with LOD scores

  10. Complete androgen insensitivity syndrome due to a new frameshift deletion in exon 4 of the androgen receptor gene: Functional analysis of the mutant receptor

    NARCIS (Netherlands)

    J.M. Lobaccaro; S. Lumbroso; N. Poujol (Nicolas); V. Georget; A.O. Brinkmann (Albert); G. Malpuech (Georges); C. Sultan

    1995-01-01

    textabstractWe studied the androgen receptor gene in a large kindred with complete androgen insensitivity syndrome and negative receptor-binding activity, single-strand conformation polymorphism (SSCP) analysis and sequencing identified a 13 base pair deletion within exon 4. This was responsible for

  11. Tissue engineering in endodontics: root canal revascularization.

    Science.gov (United States)

    Palit Madhu Chanda; Hegde, K Sundeep; Bhat, Sham S; Sargod, Sharan S; Mantha, Somasundar; Chattopadhyay, Sayan

    2014-01-01

    Root canal revascularization attempts to make necrotic tooth alive by the use of certain simple clinical protocols. Earlier apexification was the treatment of choice for treating and preserving immature permanent teeth that have lost pulp vitality. This procedure promoted the formation of apical barrier to seal the root canal of immature teeth and nonvital filling materials contained within root canal space. However with the success of root canal revascularization to regenerate the pulp dentin complex of necrotic immature tooth has made us to rethink if apexification is at the beginning of its end. The objective of this review is to discuss the new concepts of tissue engineering in endodontics and the clinical steps of root canal revascularization.

  12. Clinical management of infected root canal dentin.

    Science.gov (United States)

    Love, R M

    1996-08-01

    Several hundred different species of bacteria are present in the human intraoral environment. Bacterial penetration of root canal dentin occurs when bacteria invade the root canal system. These bacteria may constitute a reservoir from which root canal reinfection may occur during or after endodontic treatment. The learning objective of this article is to review endodontic microbiology, update readers on the role of bacteria in pulp and periapical disease, and discuss the principles of management of infected root canal dentin. Complete debridement, removal of microorganisms and affected dentin, and chemomechanical cleansing of the root canal are suggested as being the cornerstones of successful endodontic therapy, followed by intracanal medication to remove residual bacteria, when required.

  13. Type III apical transportation of root canal

    Directory of Open Access Journals (Sweden)

    Shiv P Mantri

    2012-01-01

    Full Text Available Procedural accidents leading to complications such as canal transportation have been ascribed to inapt cleaning and shaping concepts. Canal transportation is an undesirable deviation from the natural canal path. Herewith a case of apical transportation of root canal resulting in endodontic retreatment failure and its management is presented. A healthy 21-year-old young male presented discomfort and swelling associated with painful endodontically retreated maxillary incisor. Radiograph revealed periradicular radiolucency involving underfilled 11 and overfilled 12. Insufficiently obturated 11 exhibited apical transportation of canal. This type III transportation was treated by periradicular surgery and repair using white mineral trioxide aggregate (MTA. Comfortable asymptomatic patient presented uneventful healing at third and fourth month recall visits. A decrease in the size of radiolucency in radiograph supported the clinical finding. In the present case, MTA is useful in repairing the transportation defect. The result of these procedures is predictable and successful.

  14. Canals beyond Mars: Beam depolarization in radio continuum maps of the warm ISM

    CERN Document Server

    Haverkorn, M

    2004-01-01

    Multi-frequency radio polarimetric observations of the diffuse Galactic synchrotron background enable us to study the structure of the diffuse ionized gas via rotation measure maps. However, depolarization will introduce artifacts in the resulting rotation measure, most notably in the form of narrow, elongated ``depolarization canals''. We use numerical models of a non-emitting Faraday rotating medium to study the RM distribution needed to create depolarization canals by depolarization due to a finite beam width, and to estimate the influence of this depolarization mechanism on the determination of RM. We argue that the depolarization canals indeed can be caused by beam depolarization, which in turn is a natural consequence when observing a turbulent medium with limited resolution. Furthermore, we estimate that beam depolarization can induce an additional error of about 20% in RM determinations, and considerably less in regions that are not affected by depolarization canals.

  15. The cartilage bone junction and its implications for deep canal hearing instrument fittings

    DEFF Research Database (Denmark)

    Nielsen, Claus; Darkner, Sune

    2011-01-01

    The popularity of hearing instruments deeply placed in the ear canal has been driven by their superior cosmetic characteristics. However, people fitted with these hearing instruments often complain about the sound quality of their voice, which is typically described as being hollow, echoing......, or like talking in a barrel. This problem is caused by the occlusion effect. The effect is primarily due to vibrations of the walls in the soft part of the ear canal, which generate a sound pressure that is trapped in the cavity between the tip of the occluding hearing aid and the tympanic membrane....... If the hearing aid is fitted with a seal in the bony portion of the ear canal, preventing vibration in the soft part of the ear canal from reaching the tympanic membrane, then occlusion problems can be solved or at least reduced in most cases....

  16. Perianal abscesses due to ingested foreign bodies

    Directory of Open Access Journals (Sweden)

    Doublali Mbarek

    2010-01-01

    Full Text Available The clinical presentation of perianal abscesses due to foreign bodies (FBs impacted in the anal canal mimics common causes of acute anal pain. The diagnosis can be established by digital rectal examination and/or proctoscopy, but may miss the presence of an FB. Incision and drainage of the abscess, along with removal of the FB, results in immediate pain relief and cure. Impacted FB must not be overlooked as an unusual cause of perianal abscess. One case of perianal abscesses due to FB impacted in the anal canal is reported.

  17. MRI Findings in Spinal Canal Stenosis

    Directory of Open Access Journals (Sweden)

    Maryam Barzin

    2010-05-01

    Full Text Available Spinal canal stenosis results from progressive narrowing of the central spinal canal and the lateral recesses. Primary (congenital lumbar spinal stenosis is associated with achondroplastic dwarfism. The spinal canal may become narrowed by bulging or protrusion of the intervertebral disc annulus, herniation of the nucleus pulposus posteriorly, thickening of the posterior longitudinal ligament, hypertrophy of the facet joints, hypertrophy of the ligamentum flavum, epidural fat deposition, spondylosis of the intervertebral disc margins and uncovertebral joint hypertrophy in the neck. The central canal and the neurorecess may be compromised by tumor infiltration, such as metastatic disease, or by infectious spondylitis."nAP diameter of the normal adult cervical canal has a mean value of 17-18 mm at vertebral levels C3-5. The lower cervical canal measures 12-14 mm. Cervical stenosis is associated with an AP diameter of less than 10 mm. The thoracic spinal canal varies from 12 to 14 mm in diameter in the adult. The diameter of the normal lumbar spinal canal varies from 15 to 27 mm. Lumbar stenosis results from a spinal canal diameter of less than 12 mm in some patients; a diameter of 10 mm is definitely stenotic."nSpinal MRI is the most suitable technique for the diagnosis of spinal stenosis. The examination should be performed using thin sections (3 mm and high resolution, including the axial and sagittal planes using T1-weighted, proton-density, and T2-weighted techniques. The bony and osteophytic components are seen best using a T2-weighted gradient-echo technique."nOn MRI, findings of spinal stenosis have a variable presentation depending on the specific disease. The goal of spinal imaging is to localize the site and level of disease and to help differentiate between conditions in which patients require surgery or conservative treatment."nIn this presentation, different kinds of spinal canal stenosis and their MRI findings would be discussed.

  18. Central integration of canal and otolith signals is abnormal in vestibular migraine

    Directory of Open Access Journals (Sweden)

    Susan eKing

    2014-11-01

    Full Text Available Vestibular migraine (VM, a common cause of vestibular symptoms within the general population, is a disabling and poorly understood form of dizziness. We sought to examine the underlying pathophysiology of VM with three studies which involved central synthesis of canal and otolith cues, and present preliminary results from each of these studies: 1 VM patients appear to have reduced motion perception thresholds when canal and otolith signals are modulated in a coplanar manner during roll tilt; 2 percepts of roll tilt appear to develop more slowly in VM patients than in control groups during a centrifugation paradigm that presents conflicting, orthogonal canal and otolith cues; and 3 eye movement responses appear to be different in VM patients when studied with a post-rotational tilt paradigm, which also presents a canal-otolith conflict, as the shift of the eye’s rotational axis was larger in VM and the relationship between the axis shift and tilt-suppression of the VOR appeared to differ in VM patients relative to control groups. Based on these preliminary perceptual and eye movement results obtained with three different motion paradigms, we present a hypothesis that the integration of canal and otolith signals by the brain differs in VM and that this difference could be cerebellar in origin. We provide several possible mechanisms that could underlie these observations, and speculate that one of more of these mechanisms contributes to the vestibular symptoms and motion intolerance that are characteristic of the VM syndrome.

  19. TREATMENT OF SLEEP APNEA SYNDROME DUE TO ANKYLOSIS OF TMJ USING ORTHOGNATHIC SURGERY TECHNIQUE%正颌外科技术治疗TMJ后OSAS

    Institute of Scientific and Technical Information of China (English)

    于擘; 顾晓明; 张良; 门志光

    2002-01-01

    Objective To evaluate orthognathic surgery in the treatment of sleep apnea syndrome (SAS) resulted from ankylosis of TMJ. Methods Firstly, the arthroplasty was carried out to relieve the TMJ ankylosis and to open mouth according to design. The mandibles of 14 patients with SAS were advanced by "L"-osteotomy of ramus at the affected side and a sagittal split ramus osteotomy at normal side combined with TMJ arthroplasty. Results After operation, maximal mouth opening of the 14 patients reached 2.5cm-3.5cm. The follow-up 2 years later showed the maximal mouth opening was kept between 2.5cm and 3.2cm. AHI of all the patients were less than 20 postoperatively. Snoring while asleep disappeared in 12 patients and their SaO2 increased by 18.45% in average (P<0.01), which fell into the normal range. No patients were waken up by suffocation. Continuous SaO2 increased from 58% to over 95% in average. Conclusion The obstruction of the upper airway can be relieved through orthognathic surgery. Thus the hypoxemia of the patients was relieved or corrected. This technique is effective in the treatment of SAS due to TMJ ankylosis.%目的评估正颌外科技术矫治14例颞颌关节强直所致OSAS的效果.方法手术采用患侧关节成形,下颌升支、体部的"L"形半层截骨及健侧矢状截骨术,将患侧下颌升支加高固定,下颌前部整体前移.结果 14例颞颌关节强直伴OSAS患者术后张口度达2.5~3.5cm,术后2年随访张口度仍维持在2.5~3.2cm之间.所有患者的AHI指数下降了20以上,12例患者的打鼾症状消失,持续血氧饱和度平均提高了18.45%(P<0.01),达到了正常人的范围,持续血氧饱和度最低值由术前的58%提高至术后的95%以上,OSAS得以治愈.结论颞颌关节强直伴OSAS患者通过正颌外科手术可以在关节成形的同时,解决患者下颌后缩的缺陷,解除上气道狭窄,从而缓解或纠正患者的低氧血症.

  20. Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT)

    Science.gov (United States)

    Haer-Wigman, Lonneke; Newman, Hadas; Leibu, Rina; Bax, Nathalie M.; Baris, Hagit N; Rizel, Leah; Banin, Eyal; Massarweh, Amir; Roosing, Susanne; Lefeber, Dirk J.; Zonneveld-Vrieling, Marijke N.; Isakov, Ofer; Shomron, Noam; Sharon, Dror; Den Hollander, Anneke I.; Hoyng, Carel B.; Cremers, Frans P.M.; Ben-Yosef, Tamar

    2015-01-01

    Retinitis pigmentosa (RP), the most common form of inherited retinal degeneration, is clinically and genetically heterogeneous and can appear as syndromic or non-syndromic. Mucopolysaccharidosis type IIIC (MPS IIIC) is a lethal disorder, caused by mutations in the heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT) gene and characterized by progressive neurological deterioration, with retinal degeneration as a prominent feature. We identified HGSNAT mutations in six patients with non-syndromic RP. Whole exome sequencing (WES) in an Ashkenazi Jewish Israeli RP patient revealed a novel homozygous HGSNAT variant, c.370A>T, which leads to partial skipping of exon 3. Screening of 66 Ashkenazi RP index cases revealed an additional family with two siblings homozygous for c.370A>T. WES in three Dutch siblings with RP revealed a complex HGSNAT variant, c.[398G>C; 1843G>A] on one allele, and c.1843G>A on the other allele. HGSNAT activity levels in blood leukocytes of patients were reduced compared with healthy controls, but usually higher than those in MPS IIIC patients. All patients were diagnosed with non-syndromic RP and did not exhibit neurological deterioration, or any phenotypic features consistent with MPS IIIC. Furthermore, four of the patients were over 60 years old, exceeding by far the life expectancy of MPS IIIC patients. HGSNAT is highly expressed in the mouse retina, and we hypothesize that the retina requires higher HGSNAT activity to maintain proper function, compared with other tissues associated with MPS IIIC, such as the brain. This report broadens the spectrum of phenotypes associated with HGSNAT mutations and highlights the critical function of HGSNAT in the human retina. PMID:25859010

  1. Oral Alendronate Treatment for Severe Polyostotic Fibrous Dysplasia due to McCune-Albright Syndrome in a Child: A Case Report

    Directory of Open Access Journals (Sweden)

    Silva IvaniNovato

    2010-09-01

    Full Text Available Polyostotic fibrous dysplasia (FD associated to McCune-Albright Syndrome (MAS often leads to fractures, deformities, and bone pain resulting in bad quality of life. Parenteral bisphosphonates have been used in children and adolescents to improve these symptoms with few adverse effects. We evaluated the response to oral Alendronate in a girl with severe MAS FD and observed improved quality of life with reduction of bone pain.

  2. Complete androgen insensitivity syndrome due to a new frameshift deletion in exon 4 of the androgen receptor gene: Functional analysis of the mutant receptor

    OpenAIRE

    Lobaccaro, J.M.; Lumbroso, S.; Poujol, Nicolas; Georget, V.; Brinkmann, Albert; Malpuech, Georges; Sultan, C.

    1995-01-01

    textabstractWe studied the androgen receptor gene in a large kindred with complete androgen insensitivity syndrome and negative receptor-binding activity, single-strand conformation polymorphism (SSCP) analysis and sequencing identified a 13 base pair deletion within exon 4. This was responsible for a predictive frameshift in the open reading frame and introduction of a premature stop codon at position 783 instead of 919. The deletion was reproduced in androgen receptor wildtype cDNA and tran...

  3. Canals in Milky Way radio polarization maps

    CERN Document Server

    Fletcher, A; Fletcher, Andrew; Shukurov, Anvar

    2006-01-01

    Narrow depolarized canals are common in maps of the polarized synchrotron emission of the Milky Way. Two physical effects that can produce these canals have been identified: the presence of Faraday rotation measure ($\\RM$) gradients in a foreground screen and the cumulative cancellation of polarization known as differential Faraday rotation. We show that the behaviour of the Stokes parameters $Q$ and $U$ in the vicinity of a canal can be used to identify its origin. In the case of canals produced by a Faraday screen we demonstrate that, if the polarization angle changes by $90\\degr$ across the canal, as is observed in all fields to-date, the gradients in $\\RM$ must be discontinuous. Shocks are an obvious source of such discontinuities and we derive a relation of the expected mean separation of canals to the abundance and Mach number of supernova driven shocks, and compare this with recent observations by \\citet{Haverkorn03}. We also predict the existence of less common canals with polarization angle changes o...

  4. Panama Canal Watershed Experiment- Agua Salud Project

    Science.gov (United States)

    Stallard, Robert F.; Ogden, Fred L.; Elsenbeer, Helmut; Hall, Jefferson S.

    2010-01-01

    The Agua Salud Project utilizes the Panama Canal’s (Canal) central role in world commerce to focus global attention on the ecosystem services provided by tropical forests. The Canal was one of the great engineering projects in the world. Completed in 1914, after almost a decade of concerted effort, its 80 km length greatly shortened the voyage between the Atlantic and Pacific Oceans. An entire class of ships, the Panamax, has been constructed to maximize the amount of cargo that can be carried in a Canal passage. In today’s parlance, the Canal is a “green” operation, powered largely by water (Table 1). The locks, three pairs on each end with a net lift of 27 meters, are gravity fed. For each ton of cargo that is transferred from ocean to ocean, about 13 tons of water (m3) are used. Lake Gatún forms much of the waterway in the Canal transect. Hydroelectricity is generated at the Gatún dam, whenever there is surplus water, and at Madden Dam (completed in 1936) when water is transferred from Lake Alhajuela to Lake Gatún. The Canal watershed is the source of drinking water for Panama City and Colon City, at either end of the Canal, and numerous towns in between.

  5. ["Eosinophilia-myalgia" syndrome due to L-tryptophan containing products. Cooperative evaluation of French Regional Centers of Pharmacovigilance. Analysis of 24 cases].

    Science.gov (United States)

    Castot, A; Bidault, I; Bournerias, I; Carlier, P; Efthymiou, M L

    1991-01-01

    By November 17, 1989, the MMWR published the 154 first reports of a syndrome consisting of myalgia and eosinophilia (EMS), occurring with the consumption of L-tryptophan containing products (L-TrpCp) and which might represent a new clinical entity. To standardize reporting over the country, the CDC of Atlanta developed the following case definition: 1) a peripheral blood total eosinophil count of more than 1 x 10(9) cells per liter 2) generalized myalgia sufficiently severe to affect a patient's ability to pursue daily activities 3) the exclusion of infections or neoplastic conditions. The FDA then, announced its intention to seek a nationwide recall of all tryptophan containing products, followed by other european countries (UK, Germany, France). In France, a first decree (January 4th 1990) completed by a decree on May 11th confirms this decision for one year. This measure did not concern the medicinal products or some dietary supplements for newborn or young children. Since December 11th, 1989, 24 cases have been reported to the Regional Adverse Drug Reaction Monitoring Centres in France. These cases share the same features as the cases notified previously in the USA: overrepresentation of females, no relationship with the time and the daily intake, clinical similarities to the Shulman syndrome, and unknown prognosis. Now, more than one year after the onset of this illness, it seems that discontinuation of the ingestion of L-TrpCp can resolve or improve the symptoms in most cases, but sometimes the syndrome can persist. The causal relationship between the ingestion of L-TrpCp and this syndrome has been established. Whatever the mechanism for the development of EMS among tryptophan users remains unclear, as well as the role of eosinophilia and the factors for fibroblast proliferation. The epidemic emergence of this syndrome in July 89 raises the possibility of the contamination of tryptophan during the manufacturing process. To confirm this hypothesis, the same

  6. Therapeutic Management of Hypothenar Hammer Syndrome Causing Ulnar Nerve Entrapment

    Directory of Open Access Journals (Sweden)

    Emanuele Cigna

    2010-01-01

    Full Text Available Introduction. The hypothenar hammer syndrome is a rare traumatic vascular disease of the hand. Method and Materials. We report the case of a 43-years-old man with a painful tumefaction of the left hypothenar region. The ulnar artery appeared thrombosed clinically and radiologically. The patient underwent surgery to resolve the ulnar nerve compression and revascularise the artery. Results. The symptoms disappeared immediately after surgery. The arterial flow was reestablished. Postoperatively on day 20, a new thrombosis of the ulnar artery occurred. Conclusion. Hypothenar hammer syndrome is caused by repetitive trauma to the heel of the hand. The alterations of the vessel due to its chronic inflammation caused an acute compression of the ulnar nerve at the Guyon's canal and, in our case, do not allow a permanent revascularisation of the ulnar artery.

  7. Evaluation of the Number of Canals in Mandibular Canines Using Radiographic and Clearing Methods in an Iranian Population

    Directory of Open Access Journals (Sweden)

    Fateme Tajik

    2013-01-01

    Full Text Available Introduction: Lack of knowledge about root canal anatomy can cause mistakes in diagnosis, treatment planning and failure of treatment. Mandibular canine is usually single-rooted it may have two roots or more root canals. The purpose of this study was evaluating the number of root and root-canals of mandibular canine using digital radiography with different angles and comparing it with clearing method.Materials & Methods: This study was a diagnostic test. Two hundred human mandibular canine teeth were studied. Digital radiography of the teeth from mesiodistal, bacculingual and 200 mesial views were prepared. Radiographic evaluation was down by two observers (An oral radiologist and an endodontist separately. Then dental clearing was performed. Data analysis was done using SPSS.Ver.17 software and statistical tests of MC Nemar. P0.001. Findings of digital radiography in mesiodistal view showed that 180 teeth (90% were single-canal and 20 teeth (10% had two canals, which were not different from those of clearing method (P=0.25. In 200 mesial view, 192 teeth (96% were single-canal and 8 teeth (4% had two canals, which were different from those of clearing method (P=0.012.Conclusion: Despite the low prevalence of anatomical variations in mandibular canine in this in vitro study, due to the lack of significant difference of radiographic mesiodistal views compared to that of clearing technique, CBCT modality is recommended for obtaining fast and complete diagnosis of unusual root canal.

  8. Inner Harbor Navigation Canal Basin Velocity Analysis

    Science.gov (United States)

    2014-10-01

    ER D C/ CH L TR -1 4- 12 Inner Harbor Navigation Canal Basin Velocity Analysis Co as ta l a nd H yd ra ul ic s La bo ra to ry...library at http://acwc.sdp.sirsi.net/client/default. ERDC/CHL TR-14-12 October 2014 Inner Harbor Navigation Canal Basin Velocity Analysis...system of levees, gates, and drainage structures in the Inner Harbor Navigation Canal (IHNC) basin and the greater New Orleans, Louisiana, area. Two

  9. Ocean ambient sound south of Bermuda and Panama Canal traffic.

    Science.gov (United States)

    Širović, Ana; Hildebrand, John A; McDonald, Mark A

    2016-05-01

    Comparisons of current and historic ocean ambient noise levels are rare, especially in the North Atlantic. Recent (2013-2014) monthly patterns in ocean ambient sound south of Bermuda were compared to those recorded at the same location in 1966. Additionally, trends in ocean traffic, in particular, Panama Canal traffic, over this time were also investigated. One year of ocean ambient noise measurements were collected in 1966 using cabled, omnidirectional hydrophones at the U.S. Navy Tudor Hill Laboratory in Bermuda, and repeat measurements were collected at the same location from June 2013-May 2014 using a High-frequency Acoustic Recording Package. Average monthly pressure spectrum levels at 44 Hz increased 2.8 ± 0.8 dB from 1966 to 2013, indicating an average increase of 0.6 dB/decade. This low level of increase may be due to topographic shielding at this site, limiting it to only southern exposure, and the limit in the number of ship transits through the Panama Canal, which did not change substantially during this time. The impending expansion of the Canal, which will enable the transit of larger ships at twice the current rate, is likely to lead to a substantial increase in ocean ambient sound at this location in the near future.

  10. Is the drug-induced hypersensitivity syndrome (DIHS due to human herpesvirus 6 infection or to allergy-mediated viral reactivation? Report of a case and literature review

    Directory of Open Access Journals (Sweden)

    Borgia Guglielmo

    2010-03-01

    Full Text Available Abstract Background Drug-Induced Hypersensitivity Syndrome (DIHS is a severe and rare systemic reaction triggered by a drug (usually an antiepileptic drug. We present a case of DISH and we review studies on the clinical features and treatment of DIHS, and on its pathogenesis in which two elements (Herpesvirus infection and the drug interact with the immune system to trigger such a syndrome that can lead to death in about 20% of cases. Case presentation We report the case of a 26-year old woman with fever, systemic maculopapular rash, lymphadenopathy, hepatitis and eosinophilic leukocytosis. She had been treated with antibiotics that gave no benefit. She was taking escitalopram and lamotrigine for a bipolar disease 30 days before fever onset. Because the patient's general condition deteriorated, betamethasone and acyclovir were started. This treatment resulted in a mild improvement of symptoms. Steroids were rapidly tapered and this was followed with a relapse of fever and a worsening of laboratory parameters. Human herpesvirus 6 (HHV-6 DNA was positive as shown by PCR. Drug-Induced Hypersensitivity Syndrome (DIHS was diagnosed. Symptoms regressed on prednisone (at a dose of 50 mg/die that was tapered very slowly. The patient recovered completely. Conclusions The search for rare causes of fever led to complete resolution of a very difficult case. As DIHS is a rare disease the most relevant issue is to suspect and include it in differential diagnosis of fevers of unknown origin. Once diagnosed, the therapy is easy (steroidal administration and often successful. However our case strongly confirms that attention should be paid on the steroidal tapering that should be very slow to avoid a relapse.

  11. A case of pathology-proven neuromyelitis optica spectrum disorder with Sjögren syndrome manifesting aphasia and apraxia due to a localized cerebral white matter lesion.

    Science.gov (United States)

    Sawada, Jun; Orimoto, Ryosuke; Misu, Tatsuro; Katayama, Takayuki; Aizawa, Hitoshi; Asanome, Asuka; Takahashi, Kae; Saito, Tsukasa; Anei, Ryogo; Kamada, Kyousuke; Miyokawa, Naoyuki; Takahashi, Toshiyuki; Fujihara, Kazuo; Hasebe, Naoyuki

    2014-09-01

    A woman with Sjögren syndrome manifesting as aphasia with a left deep cerebral white matter lesion tested positive for anti-aquaporin 4 (AQP4) antibody. Open biopsy of the lesion revealed active demyelination with edematous changes and the preservation of most axons, indicating a non-necrotic demyelinating lesion. Immunostaining for AQP4 was diffusely lost, whereas the loss of glial fibrillary acidic protein immunostaining was limited but with highly degenerated astrocytic foot processes in perivascular areas. These results suggested neuromyelitis optica spectrum disorder (NMOSD) pathology rather than Sjögren-related vasculitis. Only cerebral cortical symptoms with a cerebral white matter lesion could be observed in NMOSDs.

  12. Spontaneous Retroperitoneal Hemorrhage (Wunderlich Syndrome due to Large Upper Pole Renal Angiomyolipoma: Does Robotic-Assisted Laparoscopic Partial Nephrectomy Have a Role in Primary Treatment?

    Directory of Open Access Journals (Sweden)

    Achilles Ploumidis

    2013-01-01

    Full Text Available Spontaneous rapture with consequent retroperitoneal hemorrhage (Wunderlich’s syndrome is the complication mostly feared from large renal angiomyolipomas (RAMLs. In hemodynamic stable patients, minimal invasive therapies have superseded open surgery as the mainstay of treatment, with contemporary cases mostly treated by selective arterial embolization. Robotic-assisted laparoscopic partial nephrectomy (RALPN is an established minimal access treatment that has been used in the past for benign and malignant lesions of the kidney in the elective setting, but rarely in urgent situations as primary treatment. We present a case of a ruptured RAML in a young female treated effectively by RALPN.

  13. Genetic obesity syndromes.

    Science.gov (United States)

    Goldstone, Anthony P; Beales, Philip L

    2008-01-01

    There are numerous reports of multi-system genetic disorders with obesity. Many have a characteristic presentation and several, an overlapping phenotype indicating the likelihood of a shared common underlying mechanism or pathway. By understanding the genetic causes and functional perturbations of such syndromes we stand to gain tremendous insight into obesogenic pathways. In this review we focus particularly on Bardet-Biedl syndrome, whose molecular genetics and cell biology has been elucidated recently, and Prader-Willi syndrome, the commonest obesity syndrome due to loss of imprinted genes on 15q11-13. We also discuss highlights of other genetic obesity syndromes including Alstrom syndrome, Cohen syndrome, Albright's hereditary osteodystrophy (pseudohypoparathyroidism), Carpenter syndrome, MOMO syndrome, Rubinstein-Taybi syndrome, cases with deletions of 6q16, 1p36, 2q37 and 9q34, maternal uniparental disomy of chromosome 14, fragile X syndrome and Börjeson-Forssman-Lehman syndrome.

  14. Boolean nested canalizing functions: a comprehensive analysis

    CERN Document Server

    Li, Yuan; Murrugarra, David; Aguilar, Boris; Laubenbacher, Reinhard

    2012-01-01

    Boolean network models of molecular regulatory networks have been used successfully in computational systems biology. The Boolean functions that appear in published models tend to have special properties, in particular the property of being nested canalizing, a property inspired by the concept of canalization in evolutionary biology. It has been shown that networks comprised of nested canalizing functions have dynamic properties that make them suitable for modeling molecular regulatory networks, namely a small number of (large) attractors, as well as relatively short limit cycles. This paper contains a detailed analysis of this class of functions, based on a novel normal form as polynomial functions over the Boolean field. The concept of layer is introduced that stratifies variables into different classes depending on their level of dominance. Using this layer concept a closed form formula is derived for the number of nested canalizing functions with a given number of variables. Additional metrics analyzed in...

  15. Postmortem diagnosis of Marfan syndrome in a case of sudden death due to aortic rupture: Detection of a novel FBN1 frameshift mutation.

    Science.gov (United States)

    Wang, Yunyun; Chen, Shu; Wang, Rongshuai; Huang, Sizhe; Yang, Mingzhen; Liu, Liang; Liu, Qian

    2016-04-01

    To investigate the sudden death of a 36-year-old Chinese man, a medicolegal autopsy was performed, combining forensic pathological examinations and genetic sequencing analysis to diagnose the cause of death. Genomic DNA samples were extracted from blood and subjected to high-throughput sequencing. Major findings included a dilated aortic root with a ruptured and dissected aorta and consequent tamponade of the pericardial sac. Moreover, arachnodactyly and other skeletal deformities were noted. By sequencing the fibrillin-1 gene (FBN1), five genetic variations were found, including four previously known single nucleotide polymorphisms (SNPs) and a novel frameshift mutation, leading to the diagnosis of Marfan syndrome. The frameshift mutation (c.4921delG, p.glu1641llysFsX9) detected in exon 40 led to a stop codon after the next 8 amino acids. The four SNPs included a splice site mutation (c.3464-5 G>A, rs11853943), a synonymous mutation (p.Asn625Asn, rs25458), and two missense mutations (p.Pro1148Ala, rs140598; p.Cys472Tyr, rs4775765). Genetic screening was recommended for the relatives as it was reported that the father and brother of the deceased had died at the ages of 40 and 25, respectively, from sudden cardiac failure. The son of the deceased lacked the relevant mutations. This report emphasizes the important contribution of medicolegal postmortem analysis on the molecular pathogenesis study of Marfan syndrome and early diagnosis of at-risk relatives.

  16. Use Of Noninvazive Positive Pressure Ventilation in a Case of Diffuse Alveolar Hemorrhage Due to Goodpasture%u2019s Syndrome

    Directory of Open Access Journals (Sweden)

    Bunyamin Sertogullarindan

    2014-03-01

    Full Text Available Antiglomerular basement membrane antibody disease is manifested by progressive glomerulonephritis, intraalveolar hemorrhage and antiglomerular basement membrane antibodies. It is frequently characterized by mortality. We present a case of a 18 year-old  young showing remission by early diagnosis. The patient was admitted to emergency department with symptoms and findings of atypic pneumonia with bloody sputum. Chest radiography detected patchy alveolar opacities (Figure A. An ampric antibacterial treatment was given including macrolide, and bronchodilators because of bronchospasm. The patient was suspected for goodpasture’s syndrome (GPS. Anti-glomerular basement membrane (AGBM antibodies test was send. He developed massive alveolar haemorrhage in the resolution phase of atypic pneumonia. Laboratory examination revealed proteinuria of 20 mg/ dl, anemia Hb of 8 g/dl, hematocrit of 25%, microscopic hematuria of 350 erythrocite /HPF. AGBM antibodies was found as positive. GPS was diagnosed. Early immunosuppressive treatment with pulse methylprednisolone and cyclophosphamide and plazmaferez was started. Noninvasive positive pressure ventilation (NPPV was used for severe hypoxemia. Haemolytic anemia and thrombocytopenia developed under plasmaphresis treatment. Early treatment resulted with remmission. In conclusion, the current case showed that Goodpasture’s syndrome may have a favorable prognosis with early diagnosis and proper treatments including NPPV.

  17. Autoimmune lymphoproliferative syndrome due to somatic FAS mutation (ALPS-sFAS) combined with a germline caspase-10 (CASP10) variation.

    Science.gov (United States)

    Martínez-Feito, Ana; Melero, Josefa; Mora-Díaz, Sergio; Rodríguez-Vigil, Carmen; Elduayen, Ramón; González-Granado, Luis I; Pérez-Méndez, Dolores; Sánchez-Zapardiel, Elena; Ruiz-García, Raquel; Menchén, Miguela; Díaz-Madroñero, Josefa; Paz-Artal, Estela; Del Orbe-Barreto, Rafael; Riñón, Marta; Allende, Luis M

    2016-01-01

    Autoimmune lymphoproliferative syndrome (ALPS) is a primary immunodeficiency caused by impaired Fas/FasL-mediated apoptosis of lymphocytes and is characterized by chronic nonmalignant or benign lymphoproliferation, autoimmune manifestations and expansion of double negative (DN) T-cells (TCRαβ+CD4-CD8-). Most cases of ALPS are associated with germline (ALPS-FAS) or somatic (ALPS-sFAS) heterozygous FAS mutations or a combination of both. Here we report three unrelated patients with ALPS-sFAS. Only one of them showed impaired Fas function in PHA-activated T-cells. In this patient, the genetic analysis of the caspase-10 gene (CASP10) identified a heterozygous germline change in exon 9 (c.1337A>G) causing Y446C substitution in the caspase-10 protein. In addition, this patient had a dysregulated T- and B-cell phenotype; circulating lymphocytes showed expansion of T effector memory CD45RA+ (TEMRA) CD4 T-cells, effector memory CD8 T-cells, CD21(low) B-cells and reduced memory switched B-cells. Additionally, this patient showed altered expression in T-cells of several molecules that change during differentiation from naïve to effector cells (CD27, CD95, CD57 and perforin). Molecular alterations in genes of the Fas pathway are necessary for the development of ALPS and this syndrome could be influenced by the concurrent effect of other mutations hitting different genes involved in Fas or related pathways.

  18. Excitatory synapses are stronger in the hippocampus of Rett syndrome mice due to altered synaptic trafficking of AMPA-type glutamate receptors.

    Science.gov (United States)

    Li, Wei; Xu, Xin; Pozzo-Miller, Lucas

    2016-03-15

    Deficits in long-term potentiation (LTP) at central excitatory synapses are thought to contribute to cognitive impairments in neurodevelopmental disorders associated with intellectual disability and autism. Using the methyl-CpG-binding protein 2 (Mecp2) knockout (KO) mouse model of Rett syndrome, we show that naïve excitatory synapses onto hippocampal pyramidal neurons of symptomatic mice have all of the hallmarks of potentiated synapses. Stronger Mecp2 KO synapses failed to undergo LTP after either theta-burst afferent stimulation or pairing afferent stimulation with postsynaptic depolarization. On the other hand, basal synaptic strength and LTP were not affected in slices from younger presymptomatic Mecp2 KO mice. Furthermore, spine synapses in pyramidal neurons from symptomatic Mecp2 KO are larger and do not grow in size or incorporate GluA1 subunits after electrical or chemical LTP. Our data suggest that LTP is occluded in Mecp2 KO mice by already potentiated synapses. The higher surface levels of GluA1-containing receptors are consistent with altered expression levels of proteins involved in AMPA receptor trafficking, suggesting previously unidentified targets for therapeutic intervention for Rett syndrome and other MECP2-related disorders.

  19. Two root canals in maxillary central incisor

    Directory of Open Access Journals (Sweden)

    Fábio de Almeida Gomes

    2011-07-01

    Full Text Available Introduction and objective: The success of endodontic treatment requires the knowledge of tooth morphology and its variations. Case report: This clinical article reports an unusual root canal configuration that was detected in a maxillary central incisor with two root canals, demonstrated by radiographic and computerized tomography exams. Conclusion: Knowledge of endodontic anatomy as well as the obtainment of both preoperative radiographs and tomography is important to detect abnormal tooth morphology.

  20. Ulnar tunnel syndrome.

    Science.gov (United States)

    Bachoura, Abdo; Jacoby, Sidney M

    2012-10-01

    Ulnar tunnel syndrome could be broadly defined as a compressive neuropathy of the ulnar nerve at the level of the wrist. The ulnar tunnel, or Guyon's canal, has a complex and variable anatomy. Various factors may precipitate the onset of ulnar tunnel syndrome. Patient presentation depends on the anatomic zone of ulnar nerve compression: zone I compression, motor and sensory signs and symptoms; zone II compression, isolated motor deficits; and zone III compression; purely sensory deficits. Conservative treatment such as activity modification may be helpful, but often, surgical exploration of the ulnar tunnel with subsequent ulnar nerve decompression is indicated.

  1. Barth syndrome: cellular compensation of mitochondrial dysfunction and apoptosis inhibition due to changes in cardiolipin remodeling linked to tafazzin (TAZ) gene mutation.

    Science.gov (United States)

    Gonzalvez, François; D'Aurelio, Marilena; Boutant, Marie; Moustapha, Aoula; Puech, Jean-Philippe; Landes, Thomas; Arnauné-Pelloquin, Laeticia; Vial, Guillaume; Taleux, Nellie; Slomianny, Christian; Wanders, Ronald J; Houtkooper, Riekelt H; Bellenguer, Pascale; Møller, Ian Max; Gottlieb, Eyal; Vaz, Frederic M; Manfredi, Giovanni; Petit, Patrice X

    2013-08-01

    Cardiolipin is a mitochondrion-specific phospholipid that stabilizes the assembly of respiratory chain complexes, favoring full-yield operation. It also mediates key steps in apoptosis. In Barth syndrome, an X chromosome-linked cardiomyopathy caused by tafazzin mutations, cardiolipins display acyl chain modifications and are present at abnormally low concentrations, whereas monolysocardiolipin accumulates. Using immortalized lymphoblasts from Barth syndrome patients, we showed that the production of abnormal cardiolipin led to mitochondrial alterations. Indeed, the lack of normal cardiolipin led to changes in electron transport chain stability, resulting in cellular defects. We found a destabilization of the supercomplex (respirasome) I+III2+IVn but also decreased amounts of individual complexes I and IV and supercomplexes I+III and III+IV. No changes were observed in the amounts of individual complex III and complex II. We also found decreased levels of complex V. This complex is not part of the supercomplex suggesting that cardiolipin is required not only for the association/stabilization of the complexes into supercomplexes but also for the modulation of the amount of individual respiratory chain complexes. However, these alterations were compensated by an increase in mitochondrial mass, as demonstrated by electron microscopy and measurements of citrate synthase activity. We suggest that this compensatory increase in mitochondrial content prevents a decrease in mitochondrial respiration and ATP synthesis in the cells. We also show, by extensive flow cytometry analysis, that the type II apoptosis pathway was blocked at the mitochondrial level and that the mitochondria of patients with Barth syndrome cannot bind active caspase-8. Signal transduction is thus blocked before any mitochondrial event can occur. Remarkably, basal levels of superoxide anion production were slightly higher in patients' cells than in control cells as previously evidenced via an increased

  2. Cultured hippocampal neurons from trisomy 16 mouse, a model for Down's syndrome, have an abnormal action potential due to a reduced inward sodium current.

    Science.gov (United States)

    Galdzicki, Z; Coan, E; Rapoport, S I

    1993-02-26

    Mouse trisomy 16 is an animal model for Down's syndrome (human trisomy 21). The whole-cell patch-clamp technique was used to compare passive and active electrical properties of trisomy 16 and diploid mouse 16 fetal hippocampal neurons maintained in culture for 2-5 weeks. There was no significant difference in any mean passive property, including resting potential, membrane resistance, capacitance and time constant. However, in trisomic neurons, the action potential had a 20% significantly slower rising phase and a 20% significantly smaller inward sodium current and inward sodium conductance than did control neurons. The outward conductance was not altered. The ratio of maximum inward conductance to maximum outward conductance was 30% less in the trisomy 16 cells. These results indicate that trisomy 16 hippocampal neurons have abnormal active electrical properties, most likely reflecting reduced sodium channel membrane density. Such subtle differences may influence elaboration of the hippocampus during development.

  3. A global amnesia associated with the specific variant of posterior reversible encephalopathy syndrome (PRES) that developed due to severe preeclampsia and malignant hypertension

    Science.gov (United States)

    Borovac, Josip Anđelo; Božić, Joško; Žaja, Nikola; Kolić, Krešimir; Hrboka, Vedran

    2016-01-01

    A case is reported of a 26-year-old primiparous woman in the 32nd week of gestation who presented to the emergency department with the symptoms of a severe headache, nausea and vomiting. The patient was diagnosed with preeclampsia that later progressed to eclampsia. This state was characterized by a sudden onset of a headache and diplopia that advanced to cortical blindness and precipitated significant alterations in mental status, most notable being global amnesia that resolved within 48 h. A post-partum magnetic resonance imaging of the brain in FLAIR mode revealed multiple cortico-subcortical areas of hyperintense signals suggestive of edematous lesions that chiefly involved occipital and parietal lobes with additional atypical manifestations. Such radiologic findings suggested a posterior reversible encephalopathy syndrome variant with the global amnesia as an extraordinary constituent. This unique feature should be acknowledged when treating a preeclamptic or hypertensive patient that exhibits neurological symptomatology and vision disturbances. PMID:27099774

  4. A global amnesia associated with the specific variant of posterior reversible encephalopathy syndrome (PRES) that developed due to severe preeclampsia and malignant hypertension.

    Science.gov (United States)

    Borovac, Josip Anđelo; Božić, Joško; Žaja, Nikola; Kolić, Krešimir; Hrboka, Vedran

    2016-04-01

    A case is reported of a 26-year-old primiparous woman in the 32nd week of gestation who presented to the emergency department with the symptoms of a severe headache, nausea and vomiting. The patient was diagnosed with preeclampsia that later progressed to eclampsia. This state was characterized by a sudden onset of a headache and diplopia that advanced to cortical blindness and precipitated significant alterations in mental status, most notable being global amnesia that resolved within 48 h. A post-partum magnetic resonance imaging of the brain in FLAIR mode revealed multiple cortico-subcortical areas of hyperintense signals suggestive of edematous lesions that chiefly involved occipital and parietal lobes with additional atypical manifestations. Such radiologic findings suggested a posterior reversible encephalopathy syndrome variant with the global amnesia as an extraordinary constituent. This unique feature should be acknowledged when treating a preeclamptic or hypertensive patient that exhibits neurological symptomatology and vision disturbances.

  5. Primary Sjögren syndrome presenting with hemolytic anemia and pure red cell aplasia following delivery due to Coombs-negative autoimmune hemolytic anemia and hemophagocytosis.

    Science.gov (United States)

    Komaru, Yohei; Higuchi, Takakazu; Koyamada, Ryosuke; Haji, Youichiro; Okada, Masato; Kamesaki, Toyomi; Okada, Sadamu

    2013-01-01

    A 36-year-old woman presented with hemolytic anemia without a reticulocyte response 38 days after delivery. A marked reduction in erythroid cells and an increase in macrophages with active hemophagocytosis were noted in the bone marrow. While conventional Coombs' tests were negative, the level of red blood cell (RBC)-bound immunoglobulin G (IgG) was increased. The patient was diagnosed with primary Sjögren syndrome (pSS) based on her symptoms, positive anti-SS-A antibodies, Coombs-negative autoimmune hemolytic anemia and pure red cell aplasia associated with RBC-bound IgG and hemophagocytosis. The unique presentation was considered to be a consequence of immunological derangement associated with pSS, pregnancy and delivery.

  6. Myelopathy-mimicking symptoms of epidural venous engorgement and syringomyelia due to inferior vena cava stenosis at the thoracolumbar junction in a patient with Budd-Chiari syndrome.

    Science.gov (United States)

    Lee, Jung-Hee; Song, Wook-Jae; Kang, Kyung-Chung

    2015-10-01

    Epidural venous engorgement can result from various lesions, such as arteriovenous malformation, thrombosis or occlusion of the inferior vena cava (IVC), or an abdominal masslike lesion. Most patients with these problems complain of low-back pain, radicular pain, or neurogenic claudication, which are symptoms suggestive of disc herniation or spinal stenosis. However, these patients rarely exhibit neurological deficits or cauda equina syndrome. The authors encountered a case of a 60-year-old man presenting with lower-extremity weakness and voiding difficulty for a period of 1 year. To investigate the patient's myelopathy-mimicking symptoms, a lumbar spine MRI scan was performed. The MR images exhibited tortuous and dilated spinal vessels compressing the spinal cord and thecal sac at the T11-L3 level, which were concurrent with syringomyelia evidenced by a 22 × 2.5-mm cyst at the T11-12 level. 3D CT scanning of the whole aorta revealed total occlusion and regression of the IVC in the intrahepatic region 3 cm inferior to the right atrium and dilation of multiple collateral veins. The patient was diagnosed with chronic Budd-Chiari syndrome Type I. The authors performed venography, followed by intrahepatic IVC recanalization via stent placement under fluoroscopic and ultra sonographic guidance and without surgical exploration. After this treatment, there was a marked decrease in epidural venous engorgement and the patient's symptoms resolved almost completely. This case indicates that epidural venous engorgement at thoracolumbar levels may cause symptoms suggestive of myelopathy and can be successfully treated by minimally invasive procedures to eliminate the underlying causes.

  7. High cervical and lumbar canal stenosis of varied etiology : a case report.

    Directory of Open Access Journals (Sweden)

    Arunkumar M

    2002-01-01

    Full Text Available Developmental stenosis without any significant spondylotic changes frequently occurs at C3 vertebra or below, and typically extends to C6-C7. However, high cervical focal canal stenosis is unusual. A case of cervical canal segmental stenosis at C2-3 level in addition to a developmental stenosis of the lumbar region, in a 45 year old male, has been presented in this article. The dynamics of the spinal canal in relation to the likely pathology of such conditions are reviewed. We speculate that focal segmental stenosis in the high cervical region may be due to a possible premature fusion of the neurocentral synchondrosis of the cartilage, or due to an abnormal rotary biomechanics which can result in facetal hypertrophy.

  8. The fluid mechanics of root canal irrigation.

    Science.gov (United States)

    Gulabivala, K; Ng, Y-L; Gilbertson, M; Eames, I

    2010-12-01

    Root canal treatment is a common dental operation aimed at removing the contents of the geometrically complex canal chambers within teeth; its purpose is to remove diseased or infected tissue. The complex chamber is first enlarged and shaped by instruments to a size sufficient to deliver antibacterial fluids. These irrigants help to dissolve dying tissue, disinfect the canal walls and space and flush out debris. The effectiveness of the procedure is limited by access to the canal terminus. Endodontic research is focused on finding the instruments and clinical procedures that might improve success rates by more effectively reaching the apical anatomy. The individual factors affecting treatment outcome have not been unequivocally deciphered, partly because of the difficulty in isolating them and in making the link between simplified, general experimental models and the complex biological objects that are teeth. Explicitly considering the physical processes within the root canal can contribute to the resolution of these problems. The central problem is one of fluid motion in a confined geometry, which makes the dispersion and mixing of irrigant more difficult because of the absence of turbulence over much of the canal volume. The effects of treatments can be understood through the use of scale models, mathematical modelling and numerical computations. A particular concern in treatment is that caustic irrigant may penetrate beyond the root canal, causing chemical damage to the jawbone. In fact, a stagnation plane exists beyond the needle tip, which the irrigant cannot penetrate. The goal is therefore to shift the stagnation plane apically to be coincident with the canal terminus without extending beyond it. Needle design may solve some of the problems but the best design for irrigant penetration conflicts with that for optimal removal of the bacterial biofilm from the canal wall. Both irrigant penetration and biofilm removal may be improved through canal fluid

  9. Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review Retinopatia pigmentar devido a síndrome de Bardet-Biedl: relato de caso e revisão da literatura

    Directory of Open Access Journals (Sweden)

    Luis Jesuino de Oliveira Andrade

    2009-10-01

    Full Text Available Bardet-Biedl syndrome (BBS is a rare autosomal recessive disorder with clinical and genetic heterogeneity. This syndrome was first described by Laurence and Moon in 1866 and additional cases were described by Bardet and Biedl between 1920 and 1922. The main features are obesity, polydactyly, pigmentary retinopathy, learning disabilities, various degrees of intellectual impairment, hypogonadism, and renal abnormalities. Bardet-Biedl syndrome is both phenotypically and genetically heterogeneous. Clinical diagnosis is based on the presence of 4 of the 5 cardinal features. The authors present a typical case of pigmentary retinopathy due to Bardet-Biedl syndrome and made a brief commentary about the disease's cardinal manifestations.A síndrome de Bardet-Biedl (BBS é uma desordem autossômica recessiva rara, com heterogeneidade clínica e genética. Esta síndrome foi descrita pela primeira vez por Laurence e Moon em 1866 e outros casos foram descritos por Bardet e Biedl entre 1920 e 1922. As principais características são obesidade, polidactilia, retinopatia pigmentar, dificuldades de aprendizagem, graus de deficiência intelectual diversos, hipogonadismo e anomalias renais. Síndrome de Bardet-Biedl é fenotipicamente e geneticamente heterogêneos. O diagnóstico clínico baseia-se na presença de quatro dos cinco sinais principais da síndrome. Os autores apresentam um caso típico de retinopatia pigmentar devido à síndrome de Bardet-Biedl e fazem uma breve revisão sobre as manifestações da síndrome com especial atenção à retinopatia pigmentar.

  10. An in vitro model to investigate filling of lateral canals.

    Science.gov (United States)

    Venturi, Mauro; Di Lenarda, Roberto; Prati, Carlo; Breschi, Lorenzo

    2005-12-01

    Aims of this work were to examine lateral canals in extracted teeth, to propose a new technique to produce artificial lateral canals, and to compare two obturation techniques. Cleared roots were examined to record measure and shape of lateral canals. Artificial lateral canals were prepared on human demineralized teeth before final clearing. Specimens were divided in two groups: canals of group 1 were filled with Schilder's technique, canals of group 2 were filled with vertical compaction with apical backfilling. Stereomicroscopic analysis of lateral canal filling revealed lower filling rates in apical canals compared to coronal ones and higher filling rates with "vertical compaction with apical backfilling" compared to Schilder's group. The tested procedure appears to be a reliable technique to obtain standardized lateral canals and to compare filling procedures.

  11. A radiographic study of mandibular canal

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Won Chul; Lee, Sang Rae [Dept. of Oral Radiology, Division of Dentistry, Kyung Hee University, Seoul (Korea, Republic of)

    1987-11-15

    The author invested the gonial angle, the angle of mandibular and mental canal to the lower border of the mandible, and a relationship of the position of the mandibular canal to the root apex of the posterior teeth and the cortical plate of the lower of the mandible. The materials consisted of 458 pantomograms in male and female aged 11-40 and divided into 5 groups at year intervals and subdivided into 3 groups by gonial angle. The results were as follows: 1. The gonial angle decreased with age, but slight increase occurred over 26-30 years. 2. The average angle of the mandibular canal to the lower border of the mandible was 151.6 degree and did not correlate with age. 3. The average angle of the mental canal to the lower border of the mandible was 36.9 degree and didn't correlate with age. 4. The angles of mandibular and mental canal to the lower border of mandible correlated with gonial angle. 5. The distance from the root apex of the posterior teeth to the upper wall mandibular canal was most short at the region of the distal root of the mandibular second and increased with age at the region of the mandibular second molar. 6. The distance from the lower wall of the mandibular canal to the cortical plate of the lower border of the mandibule was most short at the region of the mesial root of the mandibular first molar and didn't correlate with age.

  12. Growth arrest in the ribosomopathy, Bowen-Conradi syndrome, is due to dramatically reduced cell proliferation and a defect in mitotic progression.

    Science.gov (United States)

    Armistead, Joy; Patel, Nehal; Wu, Xiaoli; Hemming, Richard; Chowdhury, Biswajit; Basra, Gagandeep Singh; Del Bigio, Marc R; Ding, Hao; Triggs-Raine, Barbara

    2015-05-01

    Bowen-Conradi syndrome (BCS) is a ribosomopathy characterized by severe developmental delay and growth failure that typically leads to death by one year of age. It is caused by a c.257A>G, p.D86G substitution in the ribosomal biogenesis protein, Essential for Mitotic Growth 1 (EMG1). We generated a knock-in of the D86G substitution in mice to characterize the effects of EMG1 deficiency, particularly in the brain, where EMG1 expression is high. Embryos homozygous for the mutation in Emg1 were small for gestational age with neural tube defects, and died between embryonic days 8.5 and 12.5. These embryos exhibited dramatically reduced cell proliferation, which we also detected in autopsy brain tissue and bone marrow of BCS patients, consistent with a requirement for high levels of EMG1 in tissues with rapid cell proliferation. In fibroblasts derived from the BCS mouse embryos, we detected a high proportion of binucleated cells, indicating that a mitotic defect underlies the growth arrest in BCS. These studies add to growing evidence of a link between ribosome biogenesis, mitotic progression, and brain development that is currently unexplored.

  13. Severe Uncompensated Metabolic Alkalosis due to Plasma Exchange in a Patient with Pulmonary-Renal Syndrome: A Clinician’s Challenge

    Directory of Open Access Journals (Sweden)

    Mohsin Ijaz

    2015-01-01

    Full Text Available Metabolic alkalosis secondary to citrate toxicity from plasma exchange is very uncommon in patients with normal renal function. In patients with advanced renal disease this can be a fatal event. We describe a case of middle-aged woman with Goodpasture’s syndrome treated with plasma exchange who developed severe metabolic alkalosis. High citrate load in plasma exchange fluid is the underlying etiology. Citrate metabolism generates bicarbonate and once its level exceeds the excretory capacity of kidneys, the severe metabolic alkalosis ensues. Our patient presented with generalized weakness, fever, and oliguria and developed rapidly progressive renal failure. Patient had positive serology for antineutrophilic cytoplasmic antibodies myeloperoxidase (ANCA-MPO and anti-glomerular basement membrane antibodies (anti-GBM. Renal biopsy showed diffuse necrotizing and crescentic glomerulonephritis with linear glomerular basement membrane staining. Patient did not respond to intravenous steroids. Plasma exchange was started with fresh frozen plasma but patient developed severe metabolic alkalosis. This metabolic alkalosis normalized with cessation of plasma exchange and initiation of low bicarbonate hemodialysis. ANCA-MPO and anti-GBM antibodies levels normalized within 2 weeks and remained undetectable at 3 months. Patient still required maintenance hemodialysis.

  14. [Severe hypercalcemia as a complication of intensive treatment for osteoporosis due to steroid therpay in 17-year-old girl with the nephrotic syndrome].

    Science.gov (United States)

    Ksiazek, Ewelina; Majewski, Marek; Borzecka, Halina; Sikora, Przemysław; Bieniaś, Beata; Zajaczkowska, Małgorzata

    2008-01-01

    In the article, 17-year-old girl with iatrogenic severe hipercalcemia was presented. The girl was treated since the age of 12 years for steroid-sensitive minimal change disease. Due to steroid therapy osteoporosis developed and intensive treatment with active form of vitamin D and high doses of calcium was started. She was admitted to our clinic in severe general state with abdominal pain, vomiting, dehydration, muscle weakness, hypertension and mental confusion. Severe hipercalcemia with nephrocalcinosis was diagnosed. The history revealed that the girl had increased the doses of drugs intentionally. The authors emphasized the need for careful monitoring of prophylaxis and treatment for osteoporosis due to steroid therapy.

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

    Science.gov (United States)

    Walther, L E; Nath, V; Krombach, G A; Di Martino, E

    2008-04-01

    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.

  16. Comparative evaluation of canal cleaning ability of various rotary endodontic filesin apical third: A scanning electron microscopic study

    Science.gov (United States)

    Jadhav, Ganesh Ranganath; Mittal, Priya; Kulkarni, Anish; Syed, Shibli; Bagul, Ravikiran; Elahi, Saina; Kalra, Dheeraj

    2016-01-01

    Background: The purpose of this study was to evaluate the canal cleaning ability of three novel endodontic rotary instruments and compare with ProTaper files as a control in apical third of root canals under scanning electron microscopy (SEM). Materials and Methods: Eighty freshly extracted mandibular premolars were selected according to inclusion criteria. Buccal cusp tips were ground to ensure having a flat coronal reference point with a total tooth length of 16 mm for all samples. Teeth were divided equally into four groups: Group I (ProTaper group), Group II (ProTaper next group), Group III (variable taper group), and Group IV (self-adjusting file [SAF] group). Using SEM, the dentinal surfaces were observed and rated at apical thirds with a magnification of ×1000 for the presence/absence of smear layer and debris. Descriptive analysis was performed, and analysis of variance with Bonferroni post hoc test was carried out for comparison between the groups, at a significance level of 0.05. Results: There was statistically significant difference between Group II and Group IV for debris (P = 0.047) and smear layer (P = 0.037). Conclusion: In apical third of root canal, SAF showed statistically significant canal cleaning ability due to combined effect of continuous streaming irrigation with effectively replacing the irrigant from the apical portion of the root canal, irrigants activation through the creation of turbulence, and its self-adapting design to root canal anatomy with a scrubbing motion on the canal walls. PMID:28182065

  17. The Kra Canal and Southeast Asian Relations

    Directory of Open Access Journals (Sweden)

    Rini Suryati Sulong

    2012-01-01

    Full Text Available This paper is a conceptual study that attempts to analyse the possible effects of the development of the Kra Isthmus Canal on ASEAN relations. The Kra Canal would constitute a mega-project, a passageway that would connect the Andaman Sea and the Gulf of Thailand at the Isthmus of Kra, Thailand. Although the proposed Kra Canal is projected to provide many economic and trade benefits to Thailand, and to the region as a whole, steps toward its development have yet to be taken. There has been much debate over the costs for trade, the costs for the environment, national and regional security concerns, as well as major concerns related to political and economic relations in the region. Therefore, one of the main purposes of this study is to contribute to the debate on the possible impact of the devel-opment of the Kra Canal on ASEAN’s regional relations. In particular, it proposes that the development of the Kra Canal could threaten regional solidarity as it would physically divide maritime Southeast Asia from main-land Southeast Asia, which would ultimately result in an economic, cultural and political divide of ASEAN itself.

  18. Three-dimensional vibration-induced vestibulo-ocular reflex identifies vertical semicircular canal dehiscence.

    Science.gov (United States)

    Aw, Swee Tin; Aw, Grace Elizabeth; Todd, Michael John; Bradshaw, Andrew Philip; Halmagyi, Gabor Michael

    2011-10-01

    Vertical semicircular canal dehiscence (VSCD) due to superior canal dehiscence (SCD) or posterior canal dehiscence (PCD) of the temporal bone causes vestibular and cochlear hypersensitivity to sound. This study aimed to characterize the vibration-induced vestibulo-ocular reflex (ViVOR) in VSCD. ViVORs in one PCD and 17 SCD patients, confirmed by CT imaging reformatted in semicircular canal planes, were measured with dual-search coils as binocular three-dimensional eye rotations induced by skull vibrations from a bone oscillator (B71-10 ohms) at 7 ms, 500 Hz, 135-dB peak-force level (re: 1 μN). The ViVOR eye rotation axes were computed by vector analysis and referenced to known semicircular canal planes. Onset latency of the ViVOR was 11 ms. ViVOR from VSCD was up to nine times greater than normal. The ViVOR's torsional rotation was always contraversive-torsional (the eye's upper pole rotated away from the stimulated ear), i.e. its direction was clockwise from a left and counterclockwise from a right VSCD, thereby lateralizing the side of the VSCD. The ViVORs vertical component distinguishes PCD from SCD, being downwards in PCD and upwards in SCD. In unilateral VSCD, the ViVOR eye rotation axis aligned closest to the dehiscent vertical semicircular canal axis from either ipsilateral or contralateral mastoid vibrations. However, in bilateral VSCDs, the ViVOR eye rotation axis lateralized to the ipsilateral dehiscent vertical semicircular canal axis. ViVOR was evoked in ossicular chain dysfunction, even when air-conducted click vestibulo-ocular reflex (VOR) was absent or markedly reduced. Hence, ViVOR could be a useful measurement to identify unilateral or bilateral VSCD even in the presence of ossicular chain dysfunction.

  19. Mitochondrial free radical overproduction due to respiratory chain impairment in the brain of a mouse model of Rett syndrome: protective effect of CNF1.

    Science.gov (United States)

    De Filippis, Bianca; Valenti, Daniela; de Bari, Lidia; De Rasmo, Domenico; Musto, Mattia; Fabbri, Alessia; Ricceri, Laura; Fiorentini, Carla; Laviola, Giovanni; Vacca, Rosa Anna

    2015-06-01

    Rett syndrome (RTT) is a pervasive neurodevelopmental disorder mainly caused by mutations in the X-linked MECP2 gene associated with severe intellectual disability, movement disorders, and autistic-like behaviors. Its pathogenesis remains mostly not understood and no effective therapy is available. High circulating levels of oxidative stress markers in patients and the occurrence of oxidative brain damage in MeCP2-deficient mouse models suggest the involvement of oxidative stress in RTT pathogenesis. However, the molecular mechanism and the origin of the oxidative stress have not been elucidated. Here we demonstrate that a redox imbalance arises from aberrant mitochondrial functionality in the brain of MeCP2-308 heterozygous female mice, a condition that more closely recapitulates that of RTT patients. The marked increase in the rate of hydrogen peroxide generation in the brain of RTT mice seems mainly produced by the dysfunctional complex II of the mitochondrial respiratory chain. In addition, both membrane potential generation and mitochondrial ATP synthesis are decreased in RTT mouse brains when succinate, the complex II respiratory substrate, is used as an energy source. Respiratory chain impairment is brain area specific, owing to a decrease in either cAMP-dependent phosphorylation or protein levels of specific complex subunits. Further, we investigated whether the treatment of RTT mice with the bacterial protein CNF1, previously reported to ameliorate the neurobehavioral phenotype and brain bioenergetic markers in an RTT mouse model, exerts specific effects on brain mitochondrial function and consequently on hydrogen peroxide production. In RTT brains treated with CNF1, we observed the reactivation of respiratory chain complexes, the rescue of mitochondrial functionality, and the prevention of brain hydrogen peroxide overproduction. These results provide definitive evidence of mitochondrial reactive oxygen species overproduction in RTT mouse brain and

  20. Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4 due to PTRF-CAVIN mutations.

    Directory of Open Access Journals (Sweden)

    Anna Rajab

    2010-03-01

    Full Text Available We investigated eight families with a novel subtype of congenital generalized lipodystrophy (CGL4 of whom five members had died from sudden cardiac death during their teenage years. ECG studies revealed features of long-QT syndrome, bradycardia, as well as supraventricular and ventricular tachycardias. Further symptoms comprised myopathy with muscle rippling, skeletal as well as smooth-muscle hypertrophy, leading to impaired gastrointestinal motility and hypertrophic pyloric stenosis in some children. Additionally, we found impaired bone formation with osteopenia, osteoporosis, and atlanto-axial instability. Homozygosity mapping located the gene within 2 Mbp on chromosome 17. Prioritization of 74 candidate genes with GeneDistiller for high expression in muscle and adipocytes suggested PTRF-CAVIN (Polymerase I and transcript release factor/Cavin as the most probable candidate leading to the detection of homozygous mutations (c.160delG, c.362dupT. PTRF-CAVIN is essential for caveolae biogenesis. These cholesterol-rich plasmalemmal vesicles are involved in signal-transduction and vesicular trafficking and reside primarily on adipocytes, myocytes, and osteoblasts. Absence of PTRF-CAVIN did not influence abundance of its binding partner caveolin-1 and caveolin-3. In patient fibroblasts, however, caveolin-1 failed to localize toward the cell surface and electron microscopy revealed reduction of caveolae to less than 3%. Transfection of full-length PTRF-CAVIN reestablished the presence of caveolae. The loss of caveolae was confirmed by Atomic Force Microscopy (AFM in combination with fluorescent imaging. PTRF-CAVIN deficiency thus presents the phenotypic spectrum caused by a quintessential lack of functional caveolae.

  1. MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression.

    Science.gov (United States)

    Frints, Suzanna Gerarda Maria; Lenzner, Steffen; Bauters, Mareike; Jensen, Lars Riff; Van Esch, Hilde; des Portes, Vincent; Moog, Ute; Macville, Merryn Victor Erik; van Roozendaal, Kees; Schrander-Stumpel, Constance Theresia Rimbertha Maria; Tzschach, Andreas; Marynen, Peter; Fryns, Jean-Pierre; Hamel, Ben; van Bokhoven, Hans; Chelly, Jamel; Beldjord, Chérif; Turner, Gillian; Gecz, Jozef; Moraine, Claude; Raynaud, Martine; Ropers, Hans Hilger; Froyen, Guy; Kuss, Andreas Walter

    2008-09-01

    Mutations in the thyroid monocarboxylate transporter 8 gene (MCT8/SLC16A2) have been reported to result in X-linked mental retardation (XLMR) in patients with clinical features of the Allan-Herndon-Dudley syndrome (AHDS). We performed MCT8 mutation analysis including 13 XLMR families with LOD scores >2.0, 401 male MR sibships and 47 sporadic male patients with AHDS-like clinical features. One nonsense mutation (c.629insA) and two missense changes (c.1A>T and c.1673G>A) were identified. Consistent with previous reports on MCT8 missense changes, the patient with c.1673G>A showed elevated serum T3 level. The c.1A>T change in another patient affects a putative translation start codon, but the same change was present in his healthy brother. In addition normal serum T3 levels were present, suggesting that the c.1A>T (NM_006517) variation is not responsible for the MR phenotype but indicates that MCT8 translation likely starts with a methionine at position p.75. Moreover, we characterized a de novo translocation t(X;9)(q13.2;p24) in a female patient with full blown AHDS clinical features including elevated serum T3 levels. The MCT8 gene was disrupted at the X-breakpoint. A complete loss of MCT8 expression was observed in a fibroblast cell-line derived from this patient because of unfavorable nonrandom X-inactivation. Taken together, these data indicate that MCT8 mutations are not common in non-AHDS MR patients yet they support that elevated serum T3 levels can be indicative for AHDS and that AHDS clinical features can be present in female MCT8 mutation carriers whenever there is unfavorable nonrandom X-inactivation.

  2. Proposition d’un outil d’aide au diagnostic du syndrome du canal carpien pour les acteurs de la santé au travail Proposal of a tool for diagnosis of carpal tunnel syndrome for Personal of Health at Work Proposición de una herramienta de ayuda en el diagnóstico del síndrome del túnel carpiano para los actores de la salud en el trabajo

    Directory of Open Access Journals (Sweden)

    Florence Bazzaro

    2012-05-01

    Full Text Available Les acteurs de la santé au travail sont confrontés à un manque d’outils quantitatifs de suivi et de diagnostic du syndrome du canal carpien (SCC. Pour répondre à ce manque, un outil de diagnostic du SCC est proposé dans cette communication. Il est composé de deux tests : le test de la roue qui consiste à détecter des encoches sur une roue en mouvement et le test de la poutre qui détecte un niveau de sensibilité à une force exercée sur un doigt concerné par le SCC. Deux études expérimentales ont été conduites pour valider cet appareil. La première étude montre que les mesures effectuées avec l’appareil sont répétables, la seconde vise à étudier la sensibilité et la spécificité de l’outil en comparaison avec une étude électrodiagnostique. Les résultats montrent que l’appareil de détection du SCC a un excellent pouvoir discriminant permettant d’identifier les sujets sains et les sujets atteints du SCC.People involved with occupational health at work are faced with a lack of quantitative tools to monitor and diagnose Carpal Tunnel Syndrome (CTS. In order to fill this gap, we developed a device for rapid CTS diagnosis which is composed of two complementary quantitative tests: the wheel test, which consists in detecting notches on a rotating wheel, and the beam test, which consists in detecting various forces exerted on a finger. We conducted two experimental studies to validate this device. The first one demonstrated the repeatability of the measures. The second one studied the sensitivity and specificity of our tool as compared to an electro-diagnosis test. The results show that our CTS detection device has excellent discriminatory power that allows practitioners to differentiate between healthy and CTS-affected subjects.Los actores de la salud en el trabajo se enfrentan a una falta de herramientas cuantitativas de seguimiento y de diagnóstico del síndrome del túnel carpiano (STC. Como respuesta a esa

  3. Synchronous rectal adenocarcinoma and anal canal adenocarcinoma

    Institute of Scientific and Technical Information of China (English)

    GU Jin; LI Jiyou; YAO Yunfeng; LU Aiping; WANG Hongyi

    2007-01-01

    It is difficult to distinguish a tectal carcinoma with anal metastases from coexistent synchronous anorectal carcinomas.The therapeutic strategy for rectal and anal carcinoma is so different that it should be clearly identified.Here,we report on the case of a 63-year-old man who presented with an upper-third rectal adenocarcinoma.Five months after resection,he developed an adenocarcinoma in the anal canal.The histological slides of both tumors were reviewed and immunohistochemical studies for cytokeratins(CKs)7 and 20 were performed.The index tumor demonstrated CK 7-/CK 20+and the second showed CK7+/CK20+.For this reason,we believe the present case had synchronous adenocarcinomas arising from anal canal and the rectum separately.It is very important to difierentiate the anorectal lesions pathologically because of the impact on the therapeutic options available,especially for the lesion arising in the anal canal.

  4. RADIOLOGICAL DIAGNOSTIC METHODS OF SOFT-TISSUE COMPONENTS IN THE SPINAL CANAL FORMING LUMBAR STENOSIS

    Directory of Open Access Journals (Sweden)

    OTABEK ABLYAZOV

    2011-08-01

    Full Text Available The modern categorization defines the different forms of lumbar part spine stenosis, coming from anatomical and pathological of the principle. One of the varieties is a central lumbar stenosis. Compression of medulla spinalis occurs due to reduction of sizes of the spine central cannel caused either by osseous structure or softtissue of the spine canal. All softtissue components of the spinal canal can form stenos including defeat of intervertebral disk (the hernia of the disk. This work studies efficiency of Xray (at 33 patients and MRI (at 92 patients methods in diagnostics of the hernia of the disk that participates in forming lumbar part spine stenosis.

  5. Analysis of Deformation of the Human Ear and Canal Caused by Mandibular Movement

    DEFF Research Database (Denmark)

    Darkner, Sune; Paulsen, Rasmus Reinhold; Larsen, Rasmus

    2007-01-01

    Many hearing aid users experience physical discomfort when wearing their device. The main contributor to this problem is believed to be deformation of the ear and ear canal caused by movement of the mandible. Physical discomfort results from added pressure on soft tissue areas in the ear....... Identifying features that can predict potential deformation is therefore important for identifying problematic cases in advance. A study on the physical deformation of the human ear and canal due to movement of the mandible is presented. The study is based on laser scannings of 30 pairs of ear impressions...

  6. Eagle's Syndrome

    OpenAIRE

    Pinheiro, Thaís Gonçalves; Soares,Vítor Yamashiro Rocha; Ferreira,Denise Bastos Lage; Raymundo,Igor Teixeira; Nascimento, Luiz Augusto; Oliveira, Carlos Augusto Costa Pires de

    2013-01-01

    Summary Introduction: Eagle's syndrome is characterized by cervicopharyngeal signs and symptoms associated with elongation of the styloid apophysis. This elongation may occur through ossification of the stylohyoid ligament, or through growth of the apophysis due to osteogenesis triggered by a factor such as trauma. Elongation of the styloid apophysis may give rise to intense facial pain, headache, dysphagia, otalgia, buzzing sensations, and trismus. Precise diagnosis of the syndrome is diffic...

  7. File list: Unc.CDV.10.AllAg.Atrioventicular_canals [Chip-atlas[Archive

    Lifescience Database Archive (English)

    Full Text Available Unc.CDV.10.AllAg.Atrioventicular_canals mm9 Unclassified Cardiovascular Atrioventicular canal...s http://dbarchive.biosciencedbc.jp/kyushu-u/mm9/assembled/Unc.CDV.10.AllAg.Atrioventicular_canals.bed ...

  8. File list: Unc.CDV.05.AllAg.Atrioventicular_canals [Chip-atlas[Archive

    Lifescience Database Archive (English)

    Full Text Available Unc.CDV.05.AllAg.Atrioventicular_canals mm9 Unclassified Cardiovascular Atrioventicular canal...s http://dbarchive.biosciencedbc.jp/kyushu-u/mm9/assembled/Unc.CDV.05.AllAg.Atrioventicular_canals.bed ...

  9. File list: Unc.CDV.20.AllAg.Atrioventicular_canals [Chip-atlas[Archive

    Lifescience Database Archive (English)

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  10. File list: His.CDV.20.AllAg.Atrioventicular_canals [Chip-atlas[Archive

    Lifescience Database Archive (English)

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  11. File list: His.CDV.10.AllAg.Atrioventicular_canals [Chip-atlas[Archive

    Lifescience Database Archive (English)

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  12. File list: His.CDV.50.AllAg.Atrioventicular_canals [Chip-atlas[Archive

    Lifescience Database Archive (English)

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  13. File list: His.CDV.05.AllAg.Atrioventicular_canals [Chip-atlas[Archive

    Lifescience Database Archive (English)

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  14. File list: Unc.CDV.50.AllAg.Atrioventicular_canals [Chip-atlas[Archive

    Lifescience Database Archive (English)

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  15. Effects of different sonic activation protocols on debridement efficacy in teeth with single-rooted canals

    Science.gov (United States)

    Niu, Li-na; Luo, Xiao-juan; Li, Guo-hua; Bortoluzzi, Eduardo A.; Mao, Jing; Chen, Ji-hua; Gutmann, James L.; Pashley, David H.; Tay, Franklin R.

    2014-01-01

    Objectives The effects of different EndoActivator® (EA) sonic activation protocols on root canal debridement efficacy were examined. Methods Root canals in 48 single-rooted teeth were instrumented, irrigated initially with NaOCl and divided into 6 groups (N=8) based on the application time of QMix (antimicrobial calcium-chelating irrigant), and the time and sequence of EA irrigant activation - Positive Control: 90 sec QMix; Negative Control: 90 sec saline; Group 1A: 15 sec QMix + 15 sec QMix with EA-activation; Group 1B: 30 sec QMix + 30 sec of QMix with EA-activation; Group 2A: 15 sec QMix with EA-activation + 15 sec QMix; Group 2B: 30 sec QMix with EA-activation + 30 sec QMix. Split roots were examined with scanning electron microscopy for assignment of smear and debris scores in locations along the coronal, middle and apical thirds of the canals. The overall cleanliness of pooled canal locations in the Positive Control and the 4 experimental groups were compared with chi-square tests. Results Significant differences were detected among the 5 groups (p 2A > 1A > Positive Control. Completely clean canals could not be achieved due to the absence of continuous irrigant flow for EA to clear intraradicular debris. Conclusions Irrespective of the sonic activation sequence, irrigant activation for 30 seconds during a 60-second period of QMix application appears to maximize the smear layer and debris removal potential of the EndoActivator® system. PMID:24878251

  16. Otoscopic, cytological, and microbiological examination of the equine external ear canal.

    Science.gov (United States)

    Sargent, Sandra J; Frank, Linda A; Buchanan, Benjamin R; Donnell, Robert L; Morandi, Federica

    2006-06-01

    Otoscopic examination and cytology of the equine ear would be beneficial in diseases such as head trauma, headshaking, otitis externa secondary to otitis media, vestibular disease, aural neoplasia and aural pruritus secondary to parasites. In practice, otic examinations of horses are rarely done due to the perceived difficulty in visualizing the equine external ear canal and tympanic membrane, as well as the need for chemical restraint. In this study, the proximal external ear canal was examined in live horses using a handheld otoscope and in cadaver heads using video otoscopy. Visualization of the proximal ear canal of the sedated horse could be done with a handheld otoscope, but more sedation or general anaesthesia and a video otoscope would be required to adequately visualize the tympanic membrane in the live horse. The proximal ear canals of 18 horses were examined cytologically and cultured aerobically. In three horses, both ears were sampled. No cells or organisms were seen on cytological examination of 11/21 ears. Nine of the 21 ears were sterile when cultured. Ten of the 21 ears had mixed growth with low numbers of organisms (Corynebacterium sp. being most common). Two of the 21 ears had heavy growth of a single organism (Corynebacterium sp. and Staphylococcus intermedius, respectively). Equine cadaver heads were examined in cross-section by computed tomography (CT) imaging and histopathology in order to further understand the anatomy of the equine external ear canal. Equine practitioners should be aware that otic examination is possible and may provide important diagnostic information.

  17. Heavy metals in vegetables and respective soils irrigated by canal, municipal waste and tube well waters.

    Science.gov (United States)

    Ismail, Amir; Riaz, Muhammad; Akhtar, Saeed; Ismail, Tariq; Amir, Mamoona; Zafar-ul-Hye, Muhammad

    2014-01-01

    Heavy metal contamination in the food chain is of serious concern due to the potential risks involved. The results of this study revealed the presence of maximum concentration of heavy metals in the canal followed by sewerage and tube well water. Similarly, the vegetables and respective soils irrigated with canal water were found to have higher heavy metal contamination followed by sewerage- and tube-well-watered samples. However, the heavy metal content of vegetables under study was below the limits as set by FAO/WHO, except for lead in canal-water-irrigated spinach (0.59 mg kg(-1)), radish pods (0.44 mg kg(-1)) and bitter gourd (0.33 mg kg(-1)). Estimated daily intakes of heavy metals by the consumption of selected vegetables were found to be well below the maximum limits. However, a complete estimation of daily intake requires the inclusion of other dietary and non-dietary exposure sources of heavy metals.

  18. Differential regulation of miR-146a/FAS and miR-21/FASLG axes in autoimmune lymphoproliferative syndrome due to FAS mutation (ALPS-FAS).

    Science.gov (United States)

    Marega, Lia Furlaneto; Teocchi, Marcelo Ananias; Dos Santos Vilela, Maria Marluce

    2016-08-01

    Most cases of autoimmune lymphoproliferative syndrome (ALPS) have an inherited genetic defect involving apoptosis-related genes of the FAS pathway. MicroRNAs (miRNAs) are a class of small non-coding regulatory RNAs playing a role in the control of gene expression. This is the first report on miRNAs in ALPS patients. We studied a mother and son carrying the same FAS cell surface death receptor (FAS) mutation, but with only the son manifesting the signs and symptoms of ALPS-FAS. The aim was to analyse, by reverse transcription-quantitative polymerase chain reaction (RT-qPCR), the peripheral blood mononuclear cells (PBMC) relative expression of miR-146a and miR-21, including their passenger strands and respective targets (FAS and FASLG). In comparison with healthy matched control individuals, miR-21-3p was over-expressed significantly (P = 0·0313) in the son, with no significant change in the expression of miR-146a, miR-146a-3p and miR-21. In contrast, the mother had a slight under-expression of the miR-146a pair and miR-21-3p (P = 0·0625). Regarding the miRNA targets, FAS was up-regulated markedly for the mother (P = 0·0078), but down-regulated for the son (P = 0·0625), while FASLG did not have any significant alteration. Taken together, our finding clearly suggests a role of the miR-146a/FAS axis in ALPS-FAS variable expressivity in which FAS haploinsufficiency seems to be compensated only in the mother who had the miR-146a pair down-regulated. As only the son had the major clinical manifestations of ALPS-FAS, miR-21-3p should be investigated as playing a critical role in ALPS physiopathology, including the development of lymphoma.

  19. Cancer of the external auditory canal

    DEFF Research Database (Denmark)

    Nyrop, Mette; Grøntved, Aksel

    2002-01-01

    OBJECTIVE: To evaluate the outcome of surgery for cancer of the external auditory canal and relate this to the Pittsburgh staging system used both on squamous cell carcinoma and non-squamous cell carcinoma. DESIGN: Retrospective case series of all patients who had surgery between 1979 and 2000....... PATIENTS: Ten women and 10 men with previously untreated primary cancer. Median age at diagnosis was 67 years (range, 31-87 years). Survival data included 18 patients with at least 2 years of follow-up or recurrence. INTERVENTION: Local canal resection or partial temporal bone resection. MAIN OUTCOME...

  20. Polyacrylamide Transport in Water Delivery Canals

    Science.gov (United States)

    Chen, L.; Zhu, J.; Young, M.

    2007-12-01

    Linear, anionic polyacrylamide (PAM) is being considered in the western United States as a technology to reduce seepage in unlined water delivery canals. A broad laboratory and field testing program has been undertaken to understand the benefits and potential environmental impacts of PAM use. The ability to predict the fate and transport of PAM in water delivery canals could prove to be a useful planning tool for PAM application. However, one key area of uncertainty of this type of canal treatment is the hydration, reaction, and settling rates of PAM after the dry powder is added to the canal water. In this study, we have developed a model that incorporates a number of known physical and chemical processes that can affect PAM transport, such as convection, dispersion, dissolution, flocculation, and settling, while solving the governing convection-dispersion transport equation. The model uses a mixed analytical and advanced numerical approach, and implements a transient partitioning of PAM mass between the canal water, the substrate soil, and potentially to open water bodies downstream of the application point. All source terms are modeled based on physical and chemical mechanisms as well as laboratory or field determined parameters. To more closely simulate field treatment of some canals, where PAM application moves upstream in time, the model is capable of implementing either a fixed or mobile upper boundary. In the latter treatment, the PAM can be added discretely or continuously in both time and space. A number of test situations have been simulated thus far, including theoretical and hypothetical cases for a wide range of conditions. The model also performed well when predicting PAM concentrations from a full-scale canal treatment experiment. The model provides a useful tool for predicting PAM fate and transport in water delivery canals, and therefore can play an important role in evaluating the efficacy of PAM application for water resources management

  1. Surgical endodontic management of infected lateral canals of maxillary incisors

    Science.gov (United States)

    2015-01-01

    This case report presents surgical endodontic management outcomes of maxillary incisors that were infected via the lateral canals. Two cases are presented in which endodontically-treated maxillary central incisors had sustained lateral canal infections. A surgical endodontic treatment was performed on both teeth. Flap elevation revealed vertical bone destruction along the root surface and infected lateral canals, and microscopy revealed that the lateral canals were the origin of the lesions. After the infected lateral canals were surgically managed, both teeth were asymptomatic and labial fistulas were resolved. There were no clinical or radiographic signs of surgical endodontic management failure at follow-up visits. This case report highlights the clinical significance and surgical endodontic management of infected lateral canal of maxillary incisor. It is important to be aware of root canal anatomy variability in maxillary incisors. Maxillary central incisors infected via the lateral canal can be successfully managed by surgical endodontic treatment. PMID:25671217

  2. Stratification and enumeration of Boolean functions by canalizing depth

    CERN Document Server

    He, Qijun

    2015-01-01

    Boolean network models have gained popularity in computational systems biology over the last dozen years. Many of these networks use canalizing Boolean functions, which has led to increased interest in the study of these functions. The canalizing depth of a function describes how many canalizing variables can be recursively picked off, until a non-canalizing function remains. In this paper, we show how every Boolean function has a unique algebraic form involving extended monomial layers and a well-defined core polynomial. This generalizes recent work on the algebraic structure of nested canalizing functions, and it yields a stratification of all Boolean functions by their canalizing depth. As a result, we obtain closed formulas for the number of n-variable Boolean functions with depth k, which simultaneously generalizes enumeration formulas for canalizing, and nested canalizing functions.

  3. Intradermal melanocytic nevus of the external auditory canal.

    Science.gov (United States)

    Alves, Renato V; Brandão, Fabiano H; Aquino, José E P; Carvalho, Maria R M S; Giancoli, Suzana M; Younes, Eduado A P

    2005-01-01

    Intradermal nevi are common benign pigmented skin tumors. Their occurrence within the external auditory canal is uncommon. The clinical and pathologic features of an intradermal nevus arising within the external auditory canal are presented, and the literature reviewed.

  4. Stratification and enumeration of Boolean functions by canalizing depth

    Science.gov (United States)

    He, Qijun; Macauley, Matthew

    2016-01-01

    Boolean network models have gained popularity in computational systems biology over the last dozen years. Many of these networks use canalizing Boolean functions, which has led to increased interest in the study of these functions. The canalizing depth of a function describes how many canalizing variables can be recursively "picked off", until a non-canalizing function remains. In this paper, we show how every Boolean function has a unique algebraic form involving extended monomial layers and a well-defined core polynomial. This generalizes recent work on the algebraic structure of nested canalizing functions, and it yields a stratification of all Boolean functions by their canalizing depth. As a result, we obtain closed formulas for the number of n-variable Boolean functions with depth k, which simultaneously generalizes enumeration formulas for canalizing, and nested canalizing functions.

  5. [Effects of steroid therapy on long-term canal prognosis and activity in the daily life of vestibular neuronitis patients].

    Science.gov (United States)

    Kitahara, T; Okumura, S; Takeda, N; Nishiike, S; Uno, A; Fukushima, M; Kubo, T

    2001-11-01

    We studied 28 patients with vestibular neuronitis treated at our hospital between 1997 and 1999. To determine the effects of steroid therapy on long-term canal prognosis and daily activity, we examined caloric tests and gave questionnaires to 12 steroid-treated and 16 nonsteroid-treated patients 2 years after onset. We found that canal improvement was 50% in the nonsteroid-treated group and 75% in the steroid-treated one. In cases with severe canal paresis (CP > or = 60%), canal improvement was 33% in the nonsteroid-treated group and 67% in the steroid-treated one. Steroid therapy at the acute stage of this disease significantly reduced the duration of spontaneous nystagmus and handicap in daily life due to dizziness induced by head and body movement, decreasing mood disturbance.

  6. Viscoelastic assessment of anal canal function using acoustic reflectometry

    DEFF Research Database (Denmark)

    Mitchell, Peter J; Klarskov, Niels; Telford, Karen J;

    2012-01-01

    Anal acoustic reflectometry is a new reproducible technique that allows a viscoelastic assessment of anal canal function. Five new variables reflecting anal canal function are measured: the opening and closing pressure, opening and closing elastance, and hysteresis.......Anal acoustic reflectometry is a new reproducible technique that allows a viscoelastic assessment of anal canal function. Five new variables reflecting anal canal function are measured: the opening and closing pressure, opening and closing elastance, and hysteresis....

  7. Síndrome del shock tóxico estreptocócico tras fascitis necrotizante por estreptococo pyogenes Streptococcal toxic shock syndrome after necrotizing fascitis due to streptococcus pyogenes

    Directory of Open Access Journals (Sweden)

    A. Rodríguez Lorenzo

    2007-12-01

    Full Text Available La fascitis necrotizante por Estreptococo Pyogenes es una emergencia quirúrgica con una tasa de mortalidad elevada por la rápida progresión a shock y fallo multiorgánico. El reto supone realizar un diagnóstico precoz, ya que suele ser confundido con una infección leve de tejidos blandos. Presentamos dos casos clínicos de fascitis necrotizante que presentaron en 24 horas un Síndrome de Shock Tóxico Estreptocócico. Revisamos el mecanismo patogénico, diagnóstico y tratamiento descritos para este cuadro y discutimos las recomendaciones para su manejo establecidas en la literatura.Necrotizing fascitis by Streptococcus Pyogenes is a surgical emergency with a high mortality task due to a rapid progression of the illness to shock and organ failure. The challenge is to perform a prompt diagnosis because it is often confused with a minor soft-tissue infection. We present two cases of necrotizing fascitis by Streptococcus Pyogenes who in 24 hours developed a Streptococcal Toxic Shock Syndrome. In addition, we review the pathogenic mechanism, diagnosis and treatment of this syndrome and we discuss its management following literature recommendations.

  8. Stress myelography. A new functional examination for diseases of the lumbar spinal canal

    Energy Technology Data Exchange (ETDEWEB)

    Schumacher, M.

    1986-12-01

    To optimize functional diagnostics in lumbar syndromes a new myelographic technique was developed termed 'loading myelography'. During the procedure the patient stands with a 10 kg weight on his out-stretched arms. Based on the law of leverage the load exercised on the vertebral column is more than two and a half times of one-half of the body weight. The author tested the efficacy of the method in 119 patients suffering from disc prolapse, spinal canal stenosis, spondylolisthesis or arachnitis. The results of the conventional myelogram compared with myelography under load conditions demonstrate the value of the method: without load the diagnosis would have remained uncertain in 25% and in 18% load myelogram revealed a pathological finding although conventional myelography was normal. We consider as indications for load myelography: Discrepancy between clinical and conventional myelographic findings; clinically expected multisegmental lesions; spinal canal stenosis; and spondylolisthesis.

  9. 75 FR 32275 - Regulated Navigation Area; Gulf Intracoastal Waterway, Inner Harbor Navigation Canal, Harvey...

    Science.gov (United States)

    2010-06-08

    ..., Inner Harbor Navigation Canal, Harvey Canal, Algiers Canal, New Orleans, LA AGENCY: Coast Guard, DHS...), Harvey Canal, and Algiers Canal during severe hurricane conditions. Vessels will not be permitted to stay... communities within the IHNC, Harvey, and Algiers Canals from potential hazards associated with vessels...

  10. 21 CFR 872.3820 - Root canal filling resin.

    Science.gov (United States)

    2010-04-01

    ... 21 Food and Drugs 8 2010-04-01 2010-04-01 false Root canal filling resin. 872.3820 Section 872.3820 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES (CONTINUED) MEDICAL DEVICES DENTAL DEVICES Prosthetic Devices § 872.3820 Root canal filling resin. (a) Identification. A root canal filling resin is a...

  11. 33 CFR 117.455 - Houma Navigation Canal.

    Science.gov (United States)

    2010-07-01

    ... 33 Navigation and Navigable Waters 1 2010-07-01 2010-07-01 false Houma Navigation Canal. 117.455 Section 117.455 Navigation and Navigable Waters COAST GUARD, DEPARTMENT OF HOMELAND SECURITY BRIDGES DRAWBRIDGE OPERATION REGULATIONS Specific Requirements Louisiana § 117.455 Houma Navigation Canal. The draw of SR 661 (Houma Nav Canal) bridge,...

  12. 21 CFR 872.3810 - Root canal post.

    Science.gov (United States)

    2010-04-01

    ... 21 Food and Drugs 8 2010-04-01 2010-04-01 false Root canal post. 872.3810 Section 872.3810 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES (CONTINUED) MEDICAL DEVICES DENTAL DEVICES Prosthetic Devices § 872.3810 Root canal post. (a) Identification. A root canal post is a device made of austenitic alloys...

  13. Direction-fixed paroxysmal nystagmus lateral canal benign paroxysmal positioning vertigo (BPPV): another form of lateral canalolithiasis.

    Science.gov (United States)

    Califano, L; Vassallo, A; Melillo, M G; Mazzone, S; Salafia, F

    2013-08-01

    Benign paroxysmal positioning vertigo (BPPV) is the most frequent vertiginous syndrome. It is caused either by free-floating otoliths in the semicircular canals (canalolithiasis) or by otoconial debris adhering to a canal cupula (cupulolithiasis). The posterior canal is the most frequently involved (80%), while the lateral canal is involved less frequently (15%), and the rarest conditions are anterior canalolithiasis and apogeotropic posterior canalolithiasis (5%). The main diagnostic sign of lateral canal BPPV is paroxysmal horizontal bidirectional positioning nystagmus evoked through Pagnini-McClure's test (head roll in the yaw plane in supine position). In the geotropic variant, which is more frequent, the fast phase of the nystagmus is directed towards the lowermost ear, when the patient lies on the affected side or on the healthy side; in the apogeotropic variant, which is less frequent, the fast phase is directed always toward the uppermost ear, regardless of which side the patient lies on. Paroxysmal nystagmus is more intense on the affected side in the geotropic form, and more intense on the healthy side in the apogeotropic form. The authors describe five cases of another primitive and rare form of lateral BPPV, defined as "direction-fixed paroxysmal nystagmus lateral canal BPPV", which has previously been described by other authors as a transitory step observed during the transformation from an apogeotropic into a geotropic form. It is characterized by typical BPPV symptoms and diagnosed by the presence of a paroxysmal horizontal unidirectional positioning nystagmus, evoked through Pagnini-McClure's test, which is apogeotropic on the affected side and geotropic on the healthy side. In the reported cases, direction-fixed horizontal paroxysmal nystagmus was always transformed into a typical geotropic form. The clinical features and pathophysiology of direction-fixed nystagmus lateral canal BPPV are discussed.

  14. Nerve canals at the fundus of the internal auditory canal on high-resolution temporal bone CT

    Energy Technology Data Exchange (ETDEWEB)

    Ji, Yoon Ha; Youn, Eun Kyung; Kim, Seung Chul [Sungkyunkwan Univ., School of Medicine, Seoul (Korea, Republic of)

    2001-12-01

    To identify and evaluate the normal anatomy of nerve canals in the fundus of the internal auditory canal which can be visualized on high-resolution temporal bone CT. We retrospectively reviewed high-resolution (1 mm thickness and interval contiguous scan) temporal bone CT images of 253 ears in 150 patients who had not suffered trauma or undergone surgery. Those with a history of uncomplicated inflammatory disease were included, but those with symptoms of vertigo, sensorineural hearing loss, or facial nerve palsy were excluded. Three radiologists determined the detectability and location of canals for the labyrinthine segment of the facial, superior vestibular and cochlear nerve, and the saccular branch and posterior ampullary nerve of the inferior vestibular nerve. Five bony canals in the fundus of the internal auditory canal were identified as nerve canals. Four canals were identified on axial CT images in 100% of cases; the so-called singular canal was identified in only 68%. On coronal CT images, canals for the labyrinthine segment of the facial and superior vestibular nerve were seen in 100% of cases, but those for the cochlear nerve, the saccular branch of the inferior vestibular nerve, and the singular canal were seen in 90.1%, 87.4% and 78% of cases, respectiveIy. In all detectable cases, the canal for the labyrinthine segment of the facial nerve was revealed as one which traversed anterolateralIy, from the anterosuperior portion of the fundus of the internal auditory canal. The canal for the cochlear nerve was located just below that for the labyrinthine segment of the facial nerve, while that canal for the superior vestibular nerve was seen at the posterior aspect of these two canals. The canal for the saccular branch of the inferior vestibular nerve was located just below the canal for the superior vestibular nerve, and that for the posterior ampullary nerve, the so-called singular canal, ran laterally or posteolateralIy from the posteroinferior aspect of

  15. Transmastoid Approach for Resurfacing the Superior Semicircular Canal Dehiscence with a Dumpling Structure

    Institute of Scientific and Technical Information of China (English)

    Xiao-Bo Ma; Rong Zeng; Guo-Peng Wang; Shu-Sheng Gong

    2015-01-01

    Background:Superior semicircular canal dehiscence (SSCD) is gradually recognized by otologists in recent years.The patients with SSCD have a syndrome comprising a series of vestibular symptoms and hearing function disorders which can be cured by the operation.In this study,we evaluated the characteristics of patients with SSCD and determined the effectiveness of treating this syndrome by resurfacing the canal via the transmastoid approach using a dumpling structure.Methods:Patients with SSCD,confirmed by high-resolution computed tomography and hospitalized at Beijing Tongren Hospital between November 2009 and October 2012,were included in the study.All of the patients underwent the unilateral transmastoid approach for resurfacing the canal,and received regular follow-up after surgery.Data from preoperative medical records and postoperative follow-up were comparatively analyzed to evaluate the effect of surgery.Results:In total,10 patients and 13 ears (three left ears,four right ears,three bilateral ears) were evaluated in the study,which included 7 men and 3 women.Different symptoms and distinctive manifestations of vestibular evoked myogenic potential were found in these patients.After surgery,4 patients had complete resolution,5 had partial resolution,and 1 patient,with bilateral SSCD,had aggravation.None of the patients suffered from serious complications such as sensorineural hearing loss,facial paralysis,cerebrospinal fluid leakage,or intracranial hypertension.Conclusions:In patients with unilateral SSCD,resurfacing the canal via the transmastoid approach using a dumpling structure is an effective and safe technique.However,more consideration is needed for patients with bilateral SSCD.

  16. Transmastoid Approach for Resurfacing the Superior Semicircular Canal Dehiscence with a Dumpling Structure

    Directory of Open Access Journals (Sweden)

    Xiao-Bo Ma

    2015-01-01

    Full Text Available Background: Superior semicircular canal dehiscence (SSCD is gradually recognized by otologists in recent years. The patients with SSCD have a syndrome comprising a series of vestibular symptoms and hearing function disorders which can be cured by the operation. In this study, we evaluated the characteristics of patients with SSCD and determined the effectiveness of treating this syndrome by resurfacing the canal via the transmastoid approach using a dumpling structure. Methods: Patients with SSCD, confirmed by high-resolution computed tomography and hospitalized at Beijing Tongren Hospital between November 2009 and October 2012, were included in the study. All of the patients underwent the unilateral transmastoid approach for resurfacing the canal, and received regular follow-up after surgery. Data from preoperative medical records and postoperative follow-up were comparatively analyzed to evaluate the effect of surgery. Results: In total, 10 patients and 13 ears (three left ears, four right ears, three bilateral ears were evaluated in the study, which included 7 men and 3 women. Different symptoms and distinctive manifestations of vestibular evoked myogenic potential were found in these patients. After surgery, 4 patients had complete resolution, 5 had partial resolution, and 1 patient, with bilateral SSCD, had aggravation. None of the patients suffered from serious complications such as sensorineural hearing loss, facial paralysis, cerebrospinal fluid leakage, or intracranial hypertension. Conclusions: In patients with unilateral SSCD, resurfacing the canal via the transmastoid approach using a dumpling structure is an effective and safe technique. However, more consideration is needed for patients with bilateral SSCD.

  17. Peroneal nerve palsy due to compartment syndrome after facial plastic surgery Paralisia de nervo fibular devido a síndrome compartimental após cirurgia plástica da face

    Directory of Open Access Journals (Sweden)

    Clécio O. Godeiro-Júnior

    2007-09-01

    Full Text Available A 25-year-old white man, right after bilateral rhytidoplasty, presented with agitation, necessiting use of haloperidol. Some hours after, he developed severe pain in his legs and a diagnosis of neuroleptic malignant syndrome (NMS was considered. Even with treatment for NMS he still complained of pain. A diagnosis of lower limb compartment syndrome (CS was done only 12 hours after the initial event, being submitted to fasciotomy in both legs, disclosing very pale muscles, due to previous ischemia. This syndrome was not explained only by facial surgery, his position and duration of the procedure. It can be explained by a sequence of events. He had a history of pain in his legs during physical exercises, usually seen in chronic compartment syndrome. He used to take anabolizant and venlafaxine, not previously related, and the agitation could be related to serotoninergic syndrome caused by interaction between venlafaxine and haloperidol. Rhabdomyolisis could lead to oedema and ischmemia in both anterior leg compartment. This report highlights the importance of early diagnosis of compartment syndrome, otherwise, even after fasciotomy, a permanent disability secondary to peripheral nerve compression could occur.Logo após ritidoplastia bilateral, um jovem de 25 anos apresentou agitação, necessitando uso de haloperidol. Algumas horas após, desenvolveu dor intensa em membros inferiores, e o diagnóstico de síndrome neuroléptica maligna foi considerado. Mesmo com o tratamento para tal, persistiu com dor. Após 12 horas do início do quadro, foi realizado o diagnóstico de síndrome compartimental de membros inferiores e o jovem foi submetido a fasciotomia bilateral. Uma seqüência de eventos desencadeou esta síndrome, já que sua ocorrência dificilmente seria justificada pela cirurgia facial e/ou posição do paciente durante o procedimento. O jovem apresentava previamente dor em membros inferiores aos exercícios, sugerindo a ocorrência de uma s

  18. The crazy project – Canal Istanbul

    Directory of Open Access Journals (Sweden)

    Seda Kundak

    2011-10-01

    Full Text Available It was late April 2011 when “the Crazy Project - Canal Istanbul” was proposed by the Prime Minister of Turkey, during his election campaign.  Although the idea of an artificial canal is not new, since it is initiated without any consensus between the people and institutions in Istanbul, the project immediately set a large number of debates. These vary from the legitimacy of decentralization of governance, to potential impacts of the canal on international politics, economy, environment and urban life.  Regarding past infrastructure projects in Istanbul, such large scale investments have caused extensive acceleration in construction sector in one hand and social and economic shifts on the other.  In this paper, the Canal Istanbul Project is evaluated according to basic motivations and claims of the PM, multi-perspective view through challenges and limitation that the project is likely to face with and speculations on implementation approach. The final discussion on the project is based on benefits/losses of Istanbul once the project will be implemented.

  19. Note on Tendipedidae of the Suez Canal

    NARCIS (Netherlands)

    Kruseman, G.

    1949-01-01

    Mr. A. C. V. VAN BEMMEL and Dr. A. DIAKONOFF of the Buitenzorg Museum (Java) collected Tendipedidae, which were attracted by artificial lights, when they passed the Suez Canal on 8-XI-1937 and 16-V-1939 respectively. This very interesting collection, containing some new species, was sent to me for d

  20. Infrared tympanic temperature and ear canal morphology

    NARCIS (Netherlands)

    Daanen, H.A.M.

    2006-01-01

    Several publications indicate that the infrared tympanic temperature (IRTT) underestimates the core temperature of the body when the ear canal is long, curvy and narrow. In order to quantify these observations, a study was performed in 10 subjects. The IRTT was determined and compared to the oesopha

  1. Diagnosis and therapy of 38 Budd-Chiari syndrome due to membrance obstruction of the hepatic veins%38例肝静脉膜型布加综合征诊治分析

    Institute of Scientific and Technical Information of China (English)

    孙振阳; 芮清峰; 刘允乐

    2013-01-01

    目的 探讨肝静脉膜型布加综合征(Budd-Chiari syndrome,BCS)的诊治方法.方法 38例患者均经彩超检查,疑为BCS患者行肝静脉、下腔静脉造影明确诊断后行经皮腔内血管成形(percutaneous intraluminal angioplasty,PTA)术或/和支架置入术.结论 38例患者中16例球囊扩张成功,19例支架置入,失败3例,无1例发生严重并发症.结论经皮腔内血管成形术、支架置入术是治疗肝静脉膜型 BCS的一种操作简单、安全有效的方法.%Objective To explore diagnosis and therapy of Budd -Chiari syndrome due to membrance obstruction of the hepatic veins . Methods All of the 38 patients were detected by colour doppler flow imaging , hepatic and inferior vena cava venography. Then percutaneous in-traluminal angioplasty or intravascular stent insertion was undergone . Results 16 patients underwent therapy of percutaneous intraluminal angioplasty ,and 19 patients underwent therapy of intravascular stent insertion successfully and 3 failed. Conclusion Percutaneous intraluminal angioplasty and intravascular stent insertion are safe and effective for BCS due to membrance obstruction of the hepatic veins .

  2. Persistent hypokalemia after successful adrenalectomy in a patient with Cushing's syndrome due to ectopic ACTH secretion: possible role of 11beta-hydroxysteroid dehydrogenase inhibition.

    Science.gov (United States)

    Arteaga, E; Fardella, C; Campusano, C; Cárdenas, I; Martinez, P

    1999-12-01

    Ectopic ACTH secretion is characterized by a high incidence of hypokalemia. The pathophysiology of hypokalemia has not been totally clarified, although it has been postulated that excessive amounts of adrenal steroids may play a role, as well as a possible role of the inhibition of the enzyme 11beta-hydroxysteroid dehydrogenase (11beta-OHSD). This enzyme normally converts cortisol to cortisone avoiding the mineralocorticoid action of cortisol. We present a patient with ectopic ACTH secretion due to a metastatic carcinoid tumor. The clinical picture was characterized by maintained hypokalemia (1.4 mmol/l) resistant to potassium, spironolactone and ketoconazole administration. A bilateral adrenalectomy was performed but the hypokalemia persisted while he was receiving a physiological dose of cortisol. Eight days after adrenalectomy cortisol was replaced by an equivalent dose of dexamethasone. This change was followed by a rapid and persistent normalization of hypokalemia suggesting a mineralocorticoid effect of cortisol. In conclusion, the origin of hypokalemia in our patient with ectopic ACTH secretion was secondary to cortisol. We postulate that this peculiar effect of cortisol could have happened if an inhibition of 11beta-OHSD occurred.

  3. MR determination of neonatal spinal canal depth

    Energy Technology Data Exchange (ETDEWEB)

    Arthurs, Owen, E-mail: owenarthurs@uk2.net [Centre for Cardiovascular MR, Great Ormond Street Hospital for Children, London WC1N 3JH (United Kingdom); Thayyil, Sudhin, E-mail: s.thayyil@ucl.ac.uk [Academic Neonatology, Institute for Women' s Health, London WC1E 6AU (United Kingdom); Wade, Angie, E-mail: a.wade@ucl.ac.uk [Centre for Paediatric Epidemiology and Biostatistics, UCL Institute of Child Health, London (United Kingdom); Chong, W.K., E-mail: Kling.Chong@gosh.nhs.uk [Paediatric Neuroradiology, Great Ormond Street Hospital for Children, London (United Kingdom); Sebire, Neil J., E-mail: Neil.Sebire@gosh.nhs.uk [Histopathology, Great Ormond Street Hospital for Children, London WC1E 6AU (United Kingdom); Taylor, Andrew M., E-mail: a.taylor76@ucl.ac.uk [Centre for Cardiovascular MR, Cardiorespiratory Unit, Great Ormond Street Hospital for Children and UCL Institute of Cardiovascular Science, London WC1E 6AU (United Kingdom)

    2012-08-15

    Objectives: Lumbar punctures (LPs) are frequently performed in neonates and often result in traumatic haemorrhagic taps. Knowledge of the distance from the skin to the middle of the spinal canal (mid-spinal canal depth - MSCD) may reduce the incidence of traumatic taps, but there is little data in extremely premature or low birth weight neonates. Here, we determined the spinal canal depth at post-mortem in perinatal deaths using magnetic resonance imaging (MRI). Patients and methods: Spinal canal depth was measured in 78 post-mortem foetuses and perinatal cases (mean gestation 26 weeks; mean weight 1.04 kg) at the L3/L4 inter-vertebral space at post-mortem MRI. Both anterior (ASCD) and posterior (PSCD) spinal canal depth were measured; MSCD was calculated and modelled against weight and gestational age. Results: ASCD and PSCD (mm) correlated significantly with weight and gestational age (all r > 0.8). A simple linear model MSCD (mm) = 3 Multiplication-Sign Weight (kg) + 5 was the best fit, identifying an SCD value within the correct range for 87.2% (68/78) (95% CI (78.0, 92.9%)) cases. Gestational age did not add significantly to the predictive value of the model. Conclusion: There is a significant correlation between MSCD and body weight at post-mortem MRI in foetuses and perinatal deaths. If this association holds in preterm neonates, use of the formula MSCD (mm) = 3 Multiplication-Sign Weight (kg) + 5 could result in fewer traumatic LPs in this population.

  4. Cervical spinal canal narrowing in idiopathic syringomyelia

    Energy Technology Data Exchange (ETDEWEB)

    Struck, Aaron F. [Massachusetts General Hospital, Department of Neurology, Boston, MA (United States); Carr, Carrie M. [Mayo Clinic, Department of Radiology, Rochester, MN (United States); Shah, Vinil [University of California San Francisco, Department of Radiology, San Francisco, CA (United States); Hesselink, John R. [University of California San Diego, Department of Radiology, San Diego, CA (United States); Haughton, Victor M. [University of Wisconsin, Department of Radiology, Madison, WI (United States)

    2016-08-15

    The cervical spine in Chiari I patient with syringomyelia has significantly different anteroposterior diameters than it does in Chiari I patients without syringomyelia. We tested the hypothesis that patients with idiopathic syringomyelia (IS) also have abnormal cervical spinal canal diameters. The finding in both groups may relate to the pathogenesis of syringomyelia. Local institutional review boards approved this retrospective study. Patients with IS were compared to age-matched controls with normal sagittal spine MR. All subjects had T1-weighted spin-echo (500/20) and T2-weighted fast spin-echo (2000/90) sagittal cervical spine images at 1.5 T. Readers blinded to demographic data and study hypothesis measured anteroposterior diameters at each cervical level. The spinal canal diameters were compared with a Mann-Whitney U test. The overall difference was assessed with a Friedman test. Seventeen subjects were read by two reviewers to assess inter-rater reliability. Fifty IS patients with 50 age-matched controls were studied. IS subjects had one or more syrinxes varying from 1 to 19 spinal segments. Spinal canal diameters narrowed from C1 to C3 and then enlarged from C5 to C7 in both groups. Diameters from C2 to C4 were narrower in the IS group (p < 0.005) than in controls. The ratio of the C3 to the C7 diameters was also smaller (p = 0.004) in IS than controls. Collectively, the spinal canal diameters in the IS were significantly different from controls (Friedman test p < 0.0001). Patients with IS have abnormally narrow upper and mid cervical spinal canal diameters and greater positive tapering between C3 and C7. (orig.)

  5. [CT findings of the temporal bones in Waardenburg's syndrome].

    Science.gov (United States)

    Irie, K; Ogata, H; Mitsudome, A

    1990-05-01

    We reported three cases of Waardenburg's syndrome and discussed CT findings of the temporal bones. Two cases of these patients were mother and daughter. Case 1, a two-year-old girl, had lateral displacement of the medial canthi, a broad nasal root, hetero-chromic iridis, left ptosis, albinotic fundus, and bilateral congenital deafness. CT findings of the temporal bones showed enlarged vestibules, short lateral semicircular canal, and absent right posterior semicircular canal. The mother had congenital deafness, heterochromia iridis, and a white forelock and showed similar abnormal CT findings of the temporal bones. Case 2, a one-year-old boy, had lateral displacement of the medial canthi, a broad nasal root, partial heterochromia iridis, albinotic fundus, and bilateral congenital deafness. CT findings of the temporal bones showed enlarged vestibules and absence of semicircular canals except the right lateral semicircular canal. These cases were diagnosed as Waardenburg's syndrome on the basis of the characteristic features.

  6. Ramsay hunt syndrome (herpes zoster oticus

    Directory of Open Access Journals (Sweden)

    S Karthiga Kannan

    2012-01-01

    Full Text Available Ramsay Hunt syndrome (RHS is defined as an acute peripheral facial neuropathy caused by the reactivated latent varicella zoster virus (VZV in the geniculate ganglion; characterized with erythematous vesicular rash of the skin of the ear canal, auricle, facial skin, oral mucosa and facial palsy (also known as herpes zoster oticus. This article reports a case of Ramsay Hunt Syndrome (RHS in a 37-year-old male patient depicting the classical signs.

  7. Dorello's Canal for Laymen: A Lego-Like Presentation.

    Science.gov (United States)

    Ezer, Haim; Banerjee, Anirban Deep; Thakur, Jai Deep; Nanda, Anil

    2012-06-01

    Objective Dorello's canal was first described by Gruber in 1859, and later by Dorello. Vail also described the anatomy of Dorello's canal. In the preceding century, Dorello's canal was clinically important, in understanding sixth nerve palsy and nowadays it is mostly important for skull base surgery. The understanding of the three dimensional anatomy, of this canal is very difficult to understand, and there is no simple explanation for its anatomy and its relationship with adjacent structures. We present a simple, Lego-like, presentation of Dorello's canal, in a stepwise manner. Materials and Methods Dorello's canal was dissected in five formalin-fixed cadaver specimens (10 sides). The craniotomy was performed, while preserving the neural and vascular structures associated with the canal. A 3D model was created, to explain the canal's anatomy. Results Using the petrous pyramid, the sixth nerve, the cavernous sinus, the trigeminal ganglion, the petorclival ligament and the posterior clinoid, the three-dimensional structure of Dorello's canal was defined. This simple representation aids in understanding the three dimensional relationship of Dorello's canal to its neighboring structures. Conclusion Dorello's canal with its three dimensional structure and relationship to its neighboring anatomical structures could be reconstructed using a few anatomical building blocks. This method simplifies the understanding of this complex anatomical structure, and could be used for teaching purposes for aspiring neurosurgeons, and anatomy students.

  8. Comparison of the rheological properties of four root canal sealers

    Institute of Scientific and Technical Information of China (English)

    Seok Woo Chang; Kwang Shik Bae; Young-Kyu Lee; Qiang Zhu; Won Jun Shon; Woo Cheol Lee; Kee Yeon Kum; Seung Ho Baek; In Bog Lee; Bum-Soon Lim

    2015-01-01

    The flowability of a root canal sealer is clinically important because it improves the penetration of the sealer into the complex root canal system. The purpose of this study was to compare the flowabilities of four root canal sealers, measured using the simple press method (ISO 6876), and their viscosities, measured using a strain-controlled rheometer. A newly developed, calcium phosphate-based root canal sealer (Capseal) and three commercial root canal sealers (AH Plus, Sealapex and Pulp Canal Sealer EWT) were used in this study. The flowabilities of the four root canal sealers were measured using the simple press method (n55) and their viscosities were measured using a strain-controlled rheometer (n55). The correlation between these two values was statistically analysed using Spearman’s correlation test. The flow diameters and the viscosities of the root canal sealers were strongly negatively correlated (r520.8618). The viscosity of Pulp Canal Sealer EWT was the lowest and increased in the following order:AH Plus,Sealapex,Capseal (P,0.05). All of the tested root canal sealers showed characteristic time-and temperature-dependent changes in their rheological properties. The viscosities measured using the strain-controlled rheometer were more precise than the flowabilities measured using the simple press method, suggesting that the rheometer can accurately measure the rheological properties of root canal sealers.

  9. Research on Canal System Operation Based on Controlled Volume Method

    Directory of Open Access Journals (Sweden)

    Zhiliang Ding

    2009-10-01

    Full Text Available An operating simulation mode based on storage volume control method for multireach canal system in series was established. In allusion to the deficiency of existing controlled volume algorithm, the improved algorithm was proposed, that is the controlled volume algorithm of whole canal pools, the simulation results indicate that the storage volume and water level of each canal pool can be accurately controlled after the improved algorithm was adopted. However, for some typical discharge demand change operating conditions of canal, if the controlled volume algorithm of whole canal pool is still adopted, then it certainly will cause some unnecessary regulation, and consequently increases the disturbed canal reaches. Therefor, the idea of controlled volume operation method of continuous canal pools was proposed, and its algorithm was designed. Through simulation to practical project, the results indicate that the new controlled volume algorithm proposed for typical operating condition can comparatively obviously reduce the number of regulated check gates and disturbed canal pools for some typical discharge demand change operating conditions of canal, thus the control efficiency of canal system was improved. The controlled volume method of operation is specially suitable for large-scale water delivery canal system which possesses complex operation requirements.

  10. Root Canal Morphology of Mandibular Canine in an Iranian Population: A CBCT Assessment

    Science.gov (United States)

    Soleymani, Ali; Namaryan, Nafiseh; Moudi, Ehsan; Gholinia, Ali

    2017-01-01

    Introduction: The present study was conducted to assess the morphology of mandibular canines using cone-beam computed tomography (CBCT) in a north Iranian population. Methods and Materials: For the morphological assessment of mandibular canines, 150 CBCT images taken from patients for different reasons were used. The mandibular canines were examined in sagittal, coronal and axial dimensions. The canal pattern, number of roots/canals, the tooth length, the orientation of the roots and the position of the apical foramina were evaluated and the effect of gender on each variable was assessed. The obtained data were analyzed using the Chi-square and student’s t-tests. Results: According to the Vertucci’s criteria, the most common pattern was type I morphology (89.7%), followed by types III (5.7%), II (3.7%) and V (1%). No significant differences were observed between the male and female patients in terms of canal type (P>0.05). Gender difference is a factor which affected the root length and the number of mandibular canine root and root canal. There were 296 single-root and four double-root canines. The double-root canines and mandibular canine with two canals were significantly more common among men than women (P=0.00). The apical foramen was laterally positioned in 68.3% and centrally in 31.7% of the cases, and the root curvatures were mostly oriented toward the buccal region. No significant statistical difference was observed for mentioned parameters in right and left half of the jaw. Conclusion: Due the diverse morphology and the potential presence of a second mandibular canine among Iranians, dentists should perform endodontic treatments with greater care. CBCT is an accurate tool for the morphological assessment of root canals. PMID:28179930

  11. Clinical experience of treating menopausal syndrome due to kidney and liver stagnation by moving cupping method%走罐治疗肾虚肝郁型更年期综合征临床实践

    Institute of Scientific and Technical Information of China (English)

    胡玮璇; 王卫

    2015-01-01

    以明显的精神症状为特点的肾虚肝郁型更年期综合征是临床常见病、多见病。背部走罐疗法常被用于治疗此病,效果颇佳。在此对其在治疗此证型中的作用做一探讨。背部走罐有疏通经络、调整阴阳、激发脏腑功能之效。现代医学研究发现,该方法可提高患者血清雌二醇水平、产生组胺及类组胺物质、调节情志、促进血液循环、提高人体免疫力。对肾虚肝郁型更年期综合征有较好的疗效,可作为临床治疗中一个重要辅助疗法。%The menopausal syndrome due to kidney and liver stagnation is the clinical common disease. The moving cupping therapy is often used to treat this disease, showing better efficacy. This study investigates the role of this therapy. The moving cupping therapy can clear the meridians, adjust the yin and yang, and eventually stimulate function of body organs. Recently, modern medical research has found that this treatment method helps in increasing serum estradiol levels in patients, balancing histamine and histamine substances, regulating emotions, promoting blood circulation, and finally improving the overall immune system. Therefore, moving cupping method can be used as an important adjunct therapy for treating menopausal syndrome caused by kidney and liver stagnation.

  12. Neuroacanthocytosis Syndromes

    Directory of Open Access Journals (Sweden)

    Walker Ruth H

    2011-10-01

    Full Text Available Abstract Neuroacanthocytosis (NA syndromes are a group of genetically defined diseases characterized by the association of red blood cell acanthocytosis and progressive degeneration of the basal ganglia. NA syndromes are exceptionally rare with an estimated prevalence of less than 1 to 5 per 1'000'000 inhabitants for each disorder. The core NA syndromes include autosomal recessive chorea-acanthocytosis and X-linked McLeod syndrome which have a Huntington´s disease-like phenotype consisting of a choreatic movement disorder, psychiatric manifestations and cognitive decline, and additional multi-system features including myopathy and axonal neuropathy. In addition, cardiomyopathy may occur in McLeod syndrome. Acanthocytes are also found in a proportion of patients with autosomal dominant Huntington's disease-like 2, autosomal recessive pantothenate kinase-associated neurodegeneration and several inherited disorders of lipoprotein metabolism, namely abetalipoproteinemia (Bassen-Kornzweig syndrome and hypobetalipoproteinemia leading to vitamin E malabsorption. The latter disorders are characterized by a peripheral neuropathy and sensory ataxia due to dorsal column degeneration, but movement disorders and cognitive impairment are not present. NA syndromes are caused by disease-specific genetic mutations. The mechanism by which these mutations cause neurodegeneration is not known. The association of the acanthocytic membrane abnormality with selective degeneration of the basal ganglia, however, suggests a common pathogenetic pathway. Laboratory tests include blood smears to detect acanthocytosis and determination of serum creatine kinase. Cerebral magnetic resonance imaging may demonstrate striatal atrophy. Kell and Kx blood group antigens are reduced or absent in McLeod syndrome. Western blot for chorein demonstrates absence of this protein in red blood cells of chorea-acanthocytosis patients. Specific genetic testing is possible in all NA syndromes

  13. Influence of the apical enlargement size on the endotoxin level reduction of dental root canals

    Directory of Open Access Journals (Sweden)

    Ariane Cassia Salustiano Marinho

    2012-12-01

    Full Text Available Gram-negative bacteria play an essential role in endodontic infections because they have virulence factors such as endotoxin. Due to its potential cytotoxic activity, special attention has been given to the removal/neutralization of this endotoxin in the root canal system. OBJECTIVE: The aim of this study was to evaluate the influence of the apical enlargement size (AES by using rotary instruments on the endotoxin level reduction of dental root canals. MATERIAL AND METHODS: Forty root canals of the mandibular premolar teeth were used. Escherichia coli endotoxin (055: B55 was inoculated into thirty root canals. Ten teeth served as the negative control group. After the incubation period, the first endotoxin samples were collected from the root canals with a sterile/apyrogenic paper point for the analysis of the endotoxin units (EU/mL present before instrumentation (S1. Specimen instrumentation was performed with the Mtwo® rotary system in the sequence 10/.04, 15/.05, 20/.06, 25/.06, 30/.05, 35/.04 and 40/.04. To monitor the effectiveness of increasing apical enlargement on endotoxin removal, the second endotoxin samples were collected from all the root canals after instrumentation with the following instruments: #25/.06- (S2; #30/.05- (S3; # 35/.04- (S4; and #40/.04- (S5. Limulus amebocyte lysate (LAL was used to quantify the levels of endotoxin. The results were statistically compared by using repeated measures of ANOVA with post hoc Tukey testing. RESULTS: Increasing levels of endotoxin removal was achieved by large sized apical enlargement: S2 (AES #25/.06- 89.2%, S3 (AES #30/.05- 95.9%, S4 (AES #35/.04- 97.8% and S5 (AES #40/.04- 98.2%. Substantial reduction of endotoxin content was obtained in S4 and S5 compared to S2 (p<0.05, however, the root canal preparation was not able to eliminate the endotoxin. CONCLUSIONS: Under the conditions of this study, it was concluded that the reduction of endotoxin levels of the dental root canals could be

  14. Water quality of the Boca Raton canal system and effects of the Hillsboro Canal inflow, southeastern Florida, 1990-91

    Science.gov (United States)

    McKenzie, D.J.

    1995-01-01

    The City of Boca Raton in southeastern Palm Beach County, Florida, is an urban residential area that has sustained a constant population growth with subsequent increase in water use. The Boca Raton network of canals is controlled to provide for drainage of excess water, to maintain proper coastal ground-water levels to prevent saltwater intrusion, and to recharge the surficial aquifer system from which the city withdraws potable water. Most of the water supplied to the Boca Raton canal system and the surficial aquifer system, other than rainfall and runoff, is pumped from the Hillsboro Canal. The Biscayne aquifer, principal hydrogeologic unit of the surficial aquifer system, is highly permeable and there is a close relation between water levels in the canals and the aquifer. The amount of water supplied by seepage from the conservation areas is unknown. Because the Hillsboro Canal flows from Lake Okeechobee and Water Conservation Areas 1 and 2, which are places of more highly mineralized ground water and surface water, the canal is a possible source of contamination. Water samples were collected at 10 canal sites during wet and dry seasons and analyzed for major inorganic ions and related characteristics, nutrients, and trace elements. All concentrations were generally within or less than the drinking-water standards established by the Florida Department of Environmental Protection. The high concentrations of sodium and chloride that were detected in samples from the Boca Raton canal system are probably from the more mineralized water of the Hillsboro Canal. Other water-quality data, gathered from various sources from 1982 through 1991, did not indicate any significant changes nor trends. The effects of the Hillsboro Canal on the water quality of the Boca Raton canal system are indicated by increased concentrations of sodium, chloride, dissolved solids, and total organic carbon. Concentrations of the constituents in the canal water generally decrease with distance

  15. Chylomicronemia syndrome

    Science.gov (United States)

    ... the blood. The disorder is passed down through families. Causes Chylomicronemia syndrome can occur due to a rare genetic disorder in which a protein (enzyme) called lipoprotein lipase (LpL) is broken or missing. LpL is normally found in fat and muscle. ...

  16. Inequality and megaprojects: The Panama Canal expansion

    OpenAIRE

    2006-01-01

    Cuando el control y gestión del Canal de Panamá pasó al estado panameño a finales de 1999, el gobierno comenzó a preparar un plan para su modernización. Este plan incluía la construcción de nuevas esclusas para que pudieran atravesarlo un mayor número de barcos y que admitiese los nuevos buques Post-Panamax de gran tamaño. El proyecto de Ampliación del Canal se ha seleccionado como ejemplo paradigmático de grandes Obras Públicas (GOP) por su impacto ambiental, económico y social. Este caso de...

  17. Anal cancer; Cancer du canal anal

    Energy Technology Data Exchange (ETDEWEB)

    Fesneau, M.; Champeaux-Orange, E. [Service de radiotherapie, Centre regional universitaire de cancerologie Henry-S.-Kaplan CHU de Tours, Hopital Bretonneau, 37 - Tours (France); Champeaux-Orange, E. [Service d' oncologie-radiotherapie, Centre hospitalier regional d' Orleans, 45 - Orleans (France); Hennequin, C. [Service de cancerologie-radiotherapie, hopital Saint-Louis, 75 - Paris (France)

    2010-07-01

    Anal canal epidermoid carcinomas represent 1.2% of digestive cancers and 6% of ano-rectal cancers. For localized diseases, the treatment is based on radiotherapy with or without chemotherapy (5-FU and cisplatin or mitomycin), according to tumour and nodal extension. The recommended treatment dose is 45 Gy in the anal canal, the mesorectum, para-rectal lymph nodes, and inguinal lymph nodes. An additional dose of 15 to 20 Gy is delivered in the initial tumour for good responders. Salvage surgery is necessary in case of poor response. The organs at risk to be considered are bladder, femur heads, small intestine and vulva. The objective of this work is to summarize the epidemiological and radio-anatomic and prognostic characteristics of this tumour. The conformal radiotherapy technique is illustrated by a case report. (authors)

  18. Squamous cell carcinoma of the anal canal.

    LENUS (Irish Health Repository)

    Martin, F T

    2012-01-31

    Squamous cell carcinoma ofthe anal canal represents 1.5% of all malignancies affectingthe gastrointestinal tract. Over the past 20 years dramatic changes have been seen in both the epidemiological distribution of the disease and in the therapeutic modalities utilised to manage it. CLINICAL MANAGEMENT: Historically abdominoperineal resection had been the treatment of choice with local resection reserved for early stage disease. Work by Nigro et al. has revolutionised how we currently manage carcinoma of the anal canal, demonstrating combined modality chemoradiotherapy as an appropriate alternative to surgical resection with the benefit of preserving sphincter function. Surgery is then reserved for recurrent disease with salvage abdominoperineal resection. This article reviews current literature and highlights the changing therapeutic modalities with selected clinical cases

  19. The shape of the human lumbar vertebral canal A forma do canal vertebral lombar humano

    Directory of Open Access Journals (Sweden)

    Edmundo Zarzur

    1996-09-01

    Full Text Available Literature on the anatomy of the human vertebral column characterizes the shape of the lumbar vertebral canal as triangular. The purpose of the present study was to determine the precise shape of the lumbar vertebral canal. Ten lumbar vertebral columns of adult male cadavers were dissected. Two transverse sections were performed in the third lumbar vertebra. One section was performed at the level of the lower border of the ligamenta flava, and the other section was performed at the level of the pedicles. The shape of the lumbar vertebral canal at the level of the pedicles tends to be oval or circular, whereas the shape of the lumbar vertebral canal at the level of the lower border of the ligamenta flava is triangular. Thus, the shape of the human lumbar vertebral canal is not exclusively triangular, as reported in the literature. It is related to the level of the transversal section performed on the lumbar vertebra. This finding should be taken into consideration among factors involved in the spread of solutions introduced into the epidural space.A literatura sobre a anatomia da coluna vertebral descreve como sendo triangular o formato do canal vertebral na região lombar. O objetivo deste estudo é determinar a real forma do canal da coluna vertebral lombar.Dez colunas vertebrais de cadáveres de homens adultos foram dissecadas. Dois cortes transversais foram executados na terceira vértebra lombar. Um corte foi feito no nível das bordas inferiores de dois ligamentos amarelos vizinhos e o outro corte foi transversal, no nível dos pedículos. A forma do canal vertebral variou: no nível dos pedículos ela tende a ser oval ou circular e junto às bordas inferiores dos ligamentos amarelos passa a ser triangular. Portanto, a forma do canal vertebral lombar não é somente triangular; ela depende do nível em que se faz o corte transversal da vértebra. Estes achados devem ser levados em consideração entre os fatores envolvidos na difusão das

  20. Effect of two contemporary root canal sealers on root canal dentin microhardness

    Science.gov (United States)

    2017-01-01

    Background Successful root canal treatment depends on proper cleaning, disinfecting and shaping of the root canal space. Pulpless teeth have lower dentin microhardness value compared to that of vital teeth. A material which can cause change in dentin composition may affect the microhardness. Thus the aim of this study was to evaluate and compare the effect of two root canal sealers on dentin microhardness. Material and Methods Forty two single rooted teeth were selected and divided into 3 equal groups; Apexit, iRootSP and control groups (n=14) Each group was then divided into 2 subgroups according to the post evaluation period; 1 week and 2 months (n=7). Root canal procedure was done in the experimental groups and obturation was made using either; Apexit, iRootSP or left unprepared and unobturated in the control group. Roots were sectioned transversely into cervical, middle and apical segments. The three sections of each root were mounted in a plastic chuck with acrylic resin. The coronal dentin surfaces of the root segments werepolished. Microhardness of each section was measured at 500 µm and 1000 µm from the canal lumen. Results Four way-ANOVA revealed that different tested sealer materials, canal third, measuring distance from the pulp and time as independent variables had statistically non significant effect on mean microhardness values (VHN) at p≤0.001. Among iRootSP groups there was a statistically significant difference between iRoot SP at coronal root portion (87.79±17.83) and iRoot SP at apical root portion (76.26±9.33) groups where (p=0.01). IRoot SP at coronal canal third had higher statistically significant mean microhardness value (87.79±17.83) compared to Apexit at coronal third (73.61±13.47) where (p=0.01). Conclusions Root canal sealers do not affect dentin microhardness. Key words:Root canal, dentin, sealers, microhardness, bioceramic. PMID:28149466