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Sample records for numb chin syndrome

  1. Numb chin syndrome

    Directory of Open Access Journals (Sweden)

    Guruprasad S Pujar

    2015-01-01

    Full Text Available Numb chin syndrome (NCS, also known as mental neuropathy, is a sensory neuropathy characterized by numbness involving the distribution of the mental nerve and is an uncommon, but underappreciated neuropathy. The clinical importance lies in its frequent association with malignancies, particularly lymphoma and breast cancer. We report a 30-year-old patient who presented with bilateral numb chin for few days for which no cause was found. Over 3 weeks, he developed systemic symptoms and neck swelling. Investigations revealed low platelet count, raised erythrocyte sedimentation rate, alkaline phosphatase, and lactate dehydrogenase. Biopsy of the swelling and Bone marrow confirmed Burkitt′s lymphoma. Imaging studies confirmed intracranial and hepatic metastasis. Within few days of initiation of therapy, patient succumbed to the disease. Here, we would like to emphasize that all clinicians should be aware of this entity and investigate thoroughly to rule out underlying malignancies as delay in diagnosis leads to the adverse outcome.

  2. [Numb chin syndrome caused by biphosphonates-induced osteonecrosis of the jaw].

    Science.gov (United States)

    Sierra-Hidalgo, F; de Pablo-Fernández, E; Correas-Callero, E; Villarejo-Galende, A

    Numb chin syndrome is caused by a mental or inferior alveolar nerve neuropathy. Traumatic and infectious injuries are the most frequent causes of the syndrome but, if an evident cause does not exist, a neoplastic etiology must be investigated. Other causes of the numb chin syndrome are rare. A 73-year-old woman had had a diagnosis of metastatic breast cancer and was been treated with zoledronic acid. She attended because of hypoesthesia and dysesthesia of the chin congruent with mental nerve distribution. A computed tomography of the jaw showed an osteolytic lesion with central bone sequestration, so biphosphonate-induced osteonecrosis of the jaw was diagnosed. After zoledronic acid was withdrawn, clinical neuropathy and imaging findings remained stable. Biphosphonates-induced osteonecrosis of the jaw is a recently described condition. It has been rarely reported as a cause for numb chin syndrome. In the future, osteonecrosis of the jaw must be considered in the differential diagnosis of this syndrome in cancer patients treated with biphosphonates.

  3. Numb chin syndrome associated with vertical root fracture and odontogenic infection.

    Science.gov (United States)

    Brooks, John K; Schwartz, Kevin G; Ro, Alvin S; Lin, Chang-Ching D

    2017-01-01

    Numb chin syndrome (NCS) is a multifactorial neuropathic disorder associated with paresthesia to the chin, lip, and oral mucosa, particularly arising as a sequela to various dental-related procedures or infections in the mandible. Timely elucidation of the underlying etiology is of paramount importance as the presentation of NCS could serve as a harbinger of malignancy or metastatic disease. This report describes an unusual case of NCS developing synchronously with a vertical root fracture and odontogenic infection in a mandibular first molar. Clinicians should consider the inclusion of a vertical root fracture as plausible cofactor for the development of NCS.

  4. Numb Chin Syndrome Leading to a Diagnosis of Salivary Ductal Adenocarcinoma: A Case Report and Review of the Literature

    Directory of Open Access Journals (Sweden)

    Lei Wu

    2017-07-01

    Full Text Available Numb chin syndrome (NCS refers to a rare sensory neuropathy characterized by numbness of the chin within the distribution of the mental or inferior alveolar nerve. Although NCS is usually caused by a benign process, it should not be underestimated and a thorough diagnostic evaluation for a new or known progressive malignancy should always be performed. Here, we report a case of salivary ductal adenocarcinoma that mimicked a pulpitis and periodontitis in its early presentation accompanied by numbness of chin. The course and diagnosis of this case are discussed, and a brief review of the literature is presented. It is hoped for clinicians to keep the malignant possibility of NCS in mind and take a thorough examination.

  5. Numb chin syndrome as a primary presentation of metastatic breast cancer

    Directory of Open Access Journals (Sweden)

    Jasjot Sahni

    2017-01-01

    Full Text Available Numb chin syndrome (NCS is characterized by facial neuropathy along the distribution of the mental branch of the trigeminal nerve. We report a case of NCS in a 65 year old woman who initially presented to her dentist with nonspecific symptoms that she thought were related to a tooth infection. The patient was otherwise healthy and her medical history was significant for breast cancer treated 20 years prior; her cancer was thought to be in complete remission. Upon clinical examination and conventional dental radiography, no pathology was seen such as odontogenic, periodontal, or jawbone infection. Only paresthesia and hypoesthesia was noted unilaterally in her left chin, jaw and lower lip. A computed tomography scan was obtained for further evaluation and revealed lytic metastatic disease involving the right mandible at the level of the mandibular foramen; lytic lesions of the thoracic vertebrae and multiple pulmonary nodules were also noted. Oncologic referral was made immediately which confirmed a diagnosis of metastatic breast cancer. Familiarity with NCS is important for oral health care providers in order to identify etiology and differential diagnosis, as well as to provide appropriate referral and management.

  6. Early relapse of Burkitt lymphoma heralded by a bone marrow necrosis and numb chin syndrome successfully treated with allogeneic stem cell transplantation

    Directory of Open Access Journals (Sweden)

    Jan Cerny

    2014-01-01

    Full Text Available The optimal salvage therapy for patients with relapsed Burkitt lymphoma is unknown. Bone marrow necrosis is an underreported (2 years after the transplant. To our knowledge, this is the longest reported survival of the two syndromes in the setting of BL relapse.

  7. Orofacial pain and numb chin syndrome as the presenting symptoms of a metastatic prostate cancer.

    Directory of Open Access Journals (Sweden)

    Gaver A

    2002-10-01

    Full Text Available We describe a patient with orofacial pain as the presenting symptom caused by a mandibular metastasis from a previously undiagnosed cancer of the prostate. This possibility should be considered in the differential diagnosis of male patients presenting with orofacial pain.

  8. numb one

    African Journals Online (AJOL)

    PROPRIETAIRE

    œdèmes des extrémités du nourrisson et du jeune enfant (la piqûre d'insecte unilatérale, le syndrome néphrotique avec des oedèmes in- dolores et le traumatisme) [2,13]. Toute transfusion sanguine intempes- tive sans électrophorèse préalable va retarder le diagnostic positif. 2. La drépanocytose homozygote est connue :.

  9. Chin augmentation.

    Science.gov (United States)

    Choe, K S; Stucki-McCormick, S U

    2000-01-01

    The primary goal of facial aesthetic surgery is to restore, enhance, and rejuvenate the aging face to a more youthful appearance, achieving balance and harmony. The mental area must be addressed in order to have a complete synthesis of the face. The concept of augmenting the mental area with implants has evolved so significantly that it now stands by itself as an important procedure. Various autogenous implants for chin augmentation have been in use for over 100 years but have complications. The advent of synthetic materials has given rise to various types of alloplastic implants: Gore-Tex, Medpor, Supramid, Silastic, and Mersilene. No one implant is perfect for every face. This article overviews several alloplastic implants--their advantages, disadvantages, and complications, in addition to the different techniques of preparing and delivering the implants.

  10. Numbness and tingling

    Science.gov (United States)

    ... tap) to rule out central nervous system disorders Cold stimulation test may be done to check for Raynaud phenomenon Alternative Names Sensory loss; Paresthesias; Tingling and numbness; Loss of sensation Images Central nervous system and peripheral nervous system ...

  11. Numb is an endocytic protein

    DEFF Research Database (Denmark)

    Santolini, E; Puri, C; Salcini, A E

    2000-01-01

    Numb is a protein that in Drosophila determines cell fate as a result of its asymmetric partitioning at mitosis. The function of Numb has been linked to its ability to bind and to biologically antagonize Notch, a membrane receptor that also specifies cell fate. The biochemical mechanisms underlying......15, a component of the endocytic machinery. Here, we demonstrate that Numb is an endocytic protein. We found that Numb localizes to endocytic organelles and is cotrafficked with internalizing receptors. Moreover, it associates with the appendage domain of alpha adaptin, a subunit of AP2, a major...

  12. Expression and Function of NUMB in Odontogenesis

    Directory of Open Access Journals (Sweden)

    Haitao Li

    2013-01-01

    Full Text Available NUMB is a multifunctional protein implicated to function in self-renewal and differentiation of progenitors in several tissues. To characterize the transcripts and to analyze the expression pattern of NUMB in odontogenesis, we isolated 2 full-length clones for NUMB from mouse dental pulp mRNA. One novel sequence contained 200 bp insertion in the phosphotyrosine binding domain (PTB. Confocal microscopy analysis showed strong NUMB expression in human dental pulp stem cells (hDPSC and preameloblasts. Western blot analysis indicated that NUMB isoforms were differentially expressed in various dental tissues. Immunohistochemical analysis showed that in postnatal mouse tooth germs, NUMB was differentially expressed in the preameloblasts, odontoblasts, cervical loop region, and in the dental pulp stem cells during development. Interestingly, overexpression of NUMB in HAT-7, a preameloblast cell line, had dramatic antagonizing effects on the protein expression level of activated Notch 1. Further analysis of the Notch signaling pathway showed that NUMB significantly downregulates sonic hedgehog (Shh expression in preameloblasts. Therefore, we propose that NUMB maintains ameloblast progenitor phenotype at the cervical loop by downregulating the activated Notch1 protein and thereby inhibiting the mRNA expression of Shh.

  13. Pramipexole Responsive Neck Numbness: The Therapeutic Role of Dopamine Agonists in the Spinal Cord Indicating to a Common Spinal Pathophysiology with Restless Leg Syndrome (RLS)?

    Science.gov (United States)

    Yulug, Burak; Hanoglu, Lütfü

    2016-01-01

    There is still speculative data regarding the role of spinal dopaminergic neurotransmission in restless leg syndrome (RLS). We evaluated the therapeutic role of pramipexole in a patient with cervical disc prolapsus who exceptionally presented with neck restlessness. We have found that pramipexole leads to a significant improvement in restlessness symptoms in the neck region. The therapeutic role of pramipexole may not only suggest secondary deficits due to spinal pathologies but also indicate that specialized spinal dopaminergic neurons may play an important role in the pathogenesis of region specific restlessness symptomatology.

  14. Chin force in violin playing.

    Science.gov (United States)

    Obata, Satoshi; Kinoshita, Hiroshi

    2012-06-01

    Force generated between the left mandible of violinists and the chinrest of the violin was examined using a force-sensing chinrest developed in this study. A strain-gauge force sensor was built, and it was fixed between the violin's top plate and a chin cup. Fifteen professional/amateur violinists held the violin statically, played musical scales with different sound properties and sounding techniques, as well as an excerpt from a Max Bruch concerto. Peak and mean forces were evaluated for each task. In a separate experiment, lateral movement of the lower teeth due to different levels of voluntary chin force exertion was measured. Static holding forces observed were 15 and 22 N with and without the help of the left hand, respectively. Peak force increased from 16 N at soft dynamics to 20 N at strong dynamics during scales. The force further increased to 29 N with the use of vibrato technique and 35 N during shifts. Tempo and hand position did not affect the force. Playing a Bruch concerto induced a mean peak force of 52 N, ranging from 31 to 82 N among the violinists. The developed force-sensing chinrest could accurately record the generated chin force. Typical chin force to stabilize the violin during ordinary musical performance was less than 30 N, but it could momentarily exceed 50 N when technically demanding musical pieces were performed. The lateral shift of the mandible was fairly small (<0.4 mm) even with high chin-force exertion, possibly due to clenching of the molars.

  15. 21 CFR 878.3550 - Chin prosthesis.

    Science.gov (United States)

    2010-04-01

    ... 21 Food and Drugs 8 2010-04-01 2010-04-01 false Chin prosthesis. 878.3550 Section 878.3550 Food... DEVICES GENERAL AND PLASTIC SURGERY DEVICES Prosthetic Devices § 878.3550 Chin prosthesis. (a) Identification. A chin prosthesis is a silicone rubber solid device intended to be implanted to augment or...

  16. Computer-Assisted Planning and 3D Printing-Assisted Modeling for Chin Augmentation.

    Science.gov (United States)

    Chang, Po-Chuan

    2017-12-13

    Patients are frequently not satisfied with the outcome of chin augmentation. We report the use of three-dimensional (3D) imaging and printing to design custom fit porous polyethylene chin implants. Patients requesting chin augmentation received 3D computed tomography (CT) imaging of the facial area. Patients could select the chin contour they desired by viewing 3D images of their face and chin. A 3D mandible replicate was printed from the CT data, and used to sculpt the inner surface of the implant to match the shape of the mandible, and the outer surface to match the contour the patient desired. Implants were placed with a 2 cm mucosal incision. The primary outcome was patient satisfaction with the cosmetic result at 6 months postoperatively. From April 2014 to March 2015, 107 females and 22 males (mean age, 29.7 years) received chin augmentation using 3D imaging and printing to create a custom fit porous polyethylene implant. No major complications (eg, infection, nerve injury) occurred. At 1 month, five of the 124 patients who returned for follow up were not satisfied; however, became satisfied after a minor adjustment procedure. All of the 78 patients that returned for the 6 month follow up were satisfied with the cosmetic result. No implant displacement, skin numbness, or infection was noted during the 6 months of follow up. Three-dimensional imaging and printing can be used to produce custom fit porous polyethylene chin implants that results in minimal complications and a very high satisfaction rate. 4. © 2017 The American Society for Aesthetic Plastic Surgery, Inc. Reprints and permission: journals.permissions@oup.com

  17. Numb and Alzheimer's Disease: The Current Picture.

    Directory of Open Access Journals (Sweden)

    Dimitrios eNtelios

    2012-10-01

    Full Text Available Twenty three years ago, numb was identified as a critical regulator in Drosophila sensory organ precursor cell asymmetric divisions. Beyond the recently recognized role in carcinogenesis, Numb seems to be important in Alzheimer’s disease. This assertion comes from the involvement in various processes such as synapse morphogenesis, APP trafficking, notch signaling and neurogenesis. The purpose of the present mini-review is to provide the current picture of Numb’s participation in mechanisms underlying Alzheimer’s disease pathogenesis and emphasize potential aspects for future research.

  18. Intrinsic regulation of enteroendocrine fate by Numb.

    Science.gov (United States)

    Sallé, Jérémy; Gervais, Louis; Boumard, Benjamin; Stefanutti, Marine; Siudeja, Katarzyna; Bardin, Allison J

    2017-07-03

    How terminal cell fates are specified in dynamically renewing adult tissues is not well understood. Here we explore terminal cell fate establishment during homeostasis using the enteroendocrine cells (EEs) of the adult Drosophila midgut as a paradigm. Our data argue against the existence of local feedback signals, and we identify Numb as an intrinsic regulator of EE fate. Our data further indicate that Numb, with alpha-adaptin, acts upstream or in parallel of known regulators of EE fate to limit Notch signaling, thereby facilitating EE fate acquisition. We find that Numb is regulated in part through its asymmetric and symmetric distribution during stem cell divisions; however, its de novo synthesis is also required during the differentiation of the EE cell. Thus, this work identifies Numb as a crucial factor for cell fate choice in the adult Drosophila intestine. Furthermore, our findings demonstrate that cell-intrinsic control mechanisms of terminal cell fate acquisition can result in a balanced tissue-wide production of terminally differentiated cell types. © 2017 The Authors.

  19. Delayed Mental Nerve Neuralgia following Chin Augmentation

    Directory of Open Access Journals (Sweden)

    Ineke Wever

    2013-01-01

    Full Text Available This paper describes a case of mental nerve neuralgia following a traumatic dislodgement of a chin implant ten months after surgery. Our case is unusual, both in the specific complication and the patients' atypical representation—delayed and initially without mention of trauma. To the authors' knowledge, this case has not been reported previously in the literature. We review the complications of chin augmentation and the techniques for fixation and discuss implications for the preoperative disclosure with patients.

  20. Massive expanding hematoma of the chin following blunt trauma

    Directory of Open Access Journals (Sweden)

    K Thanvir Mohamed Niazi

    2016-01-01

    Full Text Available Posttraumatic hematoma of the face is common and usually self-limiting in nature. We report an unusual massive expanding hematoma of the chin within 9 h following a blunt trauma with no associated injuries or fracture.

  1. MAP Estimation of Chin and Cheek Contours in Video Sequences

    Directory of Open Access Journals (Sweden)

    Kampmann Markus

    2004-01-01

    Full Text Available An algorithm for the estimation of chin and cheek contours in video sequences is proposed. This algorithm exploits a priori knowledge about shape and position of chin and cheek contours in images. Exploiting knowledge about the shape, a parametric 2D model representing chin and cheek contours is introduced. Exploiting knowledge about the position, a MAP estimator is developed taking into account the observed luminance gradient as well as a priori probabilities of chin and cheek contours positions. The proposed algorithm was tested with head and shoulder video sequences (image resolution CIF. In nearly 70% of all investigated video frames, a subjectively error free estimation could be achieved. The 2D estimate error is measured as on average between 2.4 and .

  2. Progressive numbness of distal limbs for two years, unsteady gait for two months

    Directory of Open Access Journals (Sweden)

    Jun MA

    2016-11-01

    Full Text Available A 50-year-old female was admitted to our department, complaining of progressive numbness of distal limbs for two years and unsteady gait for two months. “Peripheral neuropathy” was the presumed diagnosis. She has suffered dry mouth for months. Neurological examination revealed proximal upper muscle strength was normal and distal was 5-/5 while muscle strength in lower limbs was normal. Tendon reflexes in all limbs were reduced, and superficial sensation as well as deep sensation in all limbs was also diminished. Deep sensation below T8-10 was diminished. Romberg’s test was positive with negative pathological reflex. Several sensory nerves action potentials (SNAPs were diminished or absent with normal compound muscle action potentials (CMAPs. Cervical MRI showed hyperintensities in the dorsal column. Serum anti-Ro/SSA antibody was positive. Tear break-up time was abnormal in either eye (5s, normal range>10s; the rate of saliva production declined 0.02 ml/min (> 1.50 ml/15 min; parotid gland contrast sialography was abnormal; lip biopsy was positive with focal lymphocytic sialadenitis with focus score ≥1. The patient was diagnosed as primary Sjogren's syndrome and sensory neuronopathy. She received oral prednisone in dose of 1mg/(kg·d for four weeks, then reduce the dosage with 5mg/w to 0.50mg/ (kg·d. Later she reduced the dosage with 2.5mg/per week. At the same time, she got cyclophosphamide (100mg every other day and hydroxychloroquine (0.20g twice a day. Numbness of limbs and unsteady gait were improved when the patient was discharged. Two month later, during the follow-up, the patient’ gait was slightly improved, but the numbness still existed. DOI: 10.3969/j.issn.1672-6731.2016.11.016

  3. Dual Plane Augmentation Genioplasty Using Gore-Tex Chin Implants.

    Science.gov (United States)

    Kim, Byung Jun; Lim, Jong Woo; Park, Ji Hoon; Lee, Yoon Ho

    2014-08-01

    The chin shape and position is important in determining the general shape of the face, and augmentation genioplasty is performed alone or in combination with other aesthetic procedures. However, augmentation genioplasty using osteotomy is an invasive and complex procedure with the potential to damage mentalis muscle and mental nerve, to affect chin growth, and prolonged recovery. Our aim was to present our experience with a modified augmentation genioplasty procedure for hypoplastic chins using a Gore-Tex implant. Two vertical slit incisions were made at the canine level to create a supraperiosteal pocket between the incisions, preserving the periosteum and mentalis muscle. Minimal sub-periosteal dissection was performed lateral to the incisions along the mandibular border. The both wings of implant were inserted under the periosteum to achieve a stable dual plane implantation. In total, 47 patients underwent dual plane chin augmentation using a Gore-Tex implant between January 2008 and May 2013. The mean age at operation was 25.77 years (range, 15-55 years). There were 3 cases of infection; one patient was treated with antibiotics, the others underwent implant removal. Additionally, two patients complained of postoperative parasthesia that spontaneously improved without any additional treatment. Most patients were satisfied with the postoperative outcomes, and no chin growth problems were observed among the younger patients. Dual plane Gore-Tex chin augmentation is a minimally-invasive operation that is simple and safe. All implants yielded satisfactory results with no significant complications such as mental nerve injury, lower lip incompetence, or chin growth limitation.

  4. Ak-Chin Indian Community Biomass Feasiiblity Study

    Energy Technology Data Exchange (ETDEWEB)

    Mark A. Moser, RCM Digesters, Inc.; Mark Randall, Daystar Consulting, LLC; Leonard S. Gold, Ak-Chin Energy Services & Utility Strategies Consulting Group

    2005-12-31

    Study of the conversion of chicken litter to biogas for the production of energy. There was an additional requirement that after extracting the energy from the chicken litter the nutrient value of the raw chicken litter had to be returned to the Ak-Chin Farms for use as fertilizer in a form and delivery method acceptable to the Farm.

  5. Pen Culture of the Black-Chinned Tilapia, Sarotherodon ...

    African Journals Online (AJOL)

    Pen-fish-culture as a culture-based fisheries approach was investigated in the Aglor Lagoon from December 2003 to June, 2004. The fish used in the study was the Black-chinned tilapia Sarotherodon melanotheron. The growth performance of S. melanotheron cultured for six months in the Aglor Lagoon under three ...

  6. Cheek and Chin Implants to Enhance Facelift Results.

    Science.gov (United States)

    Kridel, Russell W H; Patel, Sagar

    2017-06-01

    The traditional rhytidectomy addresses facial and neck aging as it relates to soft tissue laxity. The modern volumetric facelift provides optimal results by addressing not only skin laxity but also the loss of volume secondary to tissue atrophy and bony resorption. While multiple techniques including fat grafting, dermal fillers, and tissue resuspension are used to correct the tissue loss, alloplastic midface augmentation remains the most permanent method. In our practice we often address midface cheek hollowness or atrophy with the placement of submalar implants at the time of rhytidectomy. In addition to midface volumetric rejuvenation, alloplastic chin implantation can help strengthen and further define a retrusive chin and weak jawline. In this article we discuss technique, indications, and benefits of performing alloplastic augmentation as an adjunct to rhytidectomy. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  7. Comfortably numb: desensitizing effects of violent media on helping others.

    Science.gov (United States)

    Bushman, Brad J; Anderson, Craig A

    2009-03-01

    Two studies tested the hypothesis that exposure to violent media reduces aid offered to people in pain. In Study 1, participants played a violent or nonviolent video game for 20 min. After game play, while completing a lengthy questionnaire, they heard a loud fight, in which one person was injured, outside the lab. Participants who played violent games took longer to help the injured victim, rated the fight as less serious, and were less likely to "hear" the fight in comparison to participants who played nonviolent games. In Study 2, violent- and nonviolent-movie attendees witnessed a young woman with an injured ankle struggle to pick up her crutches outside the theater either before or after the movie. Participants who had just watched a violent movie took longer to help than participants in the other three conditions. The findings from both studies suggest that violent media make people numb to the pain and suffering of others.

  8. Numbing the Heart: Racist Jokes and the Aesthetic Affect

    Directory of Open Access Journals (Sweden)

    Tanya Rodriguez

    2014-01-01

    Full Text Available People sometimes resist the idea that racist humor fails on aesthetic grounds because they find it funny. They make the case that we can enjoy its comic aspects by controlling our attention, by focusing on a joke’s rhythm or delivery rather than on its racist content. Ironic intent may reside with the joke teller and/or the audience. I discuss how arguments for the immorality of racist jokes fall short. Ironic racist jokes may be acceptable to an audience that already rejects racism but is comfortable with such ironic racist joking precisely because as individuals they feel confident in their own rejection of genuine racism. Distinguishing between straightforward racist humor and ironically framed racist humor reveals a price that must be paid. The controlled attention demanded, or even extorted, by ironic racist humor is possible only by forsaking empathy as the listener divorces himself from the feelings of those affected and thereby becomes a complicit if impartial spectator. Thus, if I say that a joke is not good because it is racist, it does not necessarily follow that the joke is not funny. What does result, however, is that appreciating such humor entails a lack of empathy for it insists upon numbing the heart.

  9. Analysis of irradiated materials in Ul-chin unit 5

    International Nuclear Information System (INIS)

    Jung, Y. H.; Yoo, B. O.; Kim, H. M.; Joo, Y. S.

    2007-02-01

    The microstructure examination, the fracture surface observation, the composition analysis and the micro-hardness measurement were carried out for investigation of debris apart from structure in Ul-chin uint 5. As the results of investigation, those of debris were found out screw bolts and the washer. The screw bolts and the washer were coincident with materials from ASTM A-193 by quantitative analysis. The screw bolts and the washer were made by STS 304. Finally, all of screw bolts were parts of the LPSI pump case even though one of them was found in different place. The washer was part of the heat exchanger

  10. Reciprocal positive regulation between TRPV6 and NUMB in PTEN-deficient prostate cancer cells

    International Nuclear Information System (INIS)

    Kim, Sung-Young; Hong, Chansik; Wie, Jinhong; Kim, Euiyong; Kim, Byung Joo; Ha, Kotdaji; Cho, Nam-Hyuk; Kim, In-Gyu; Jeon, Ju-Hong; So, Insuk

    2014-01-01

    Highlights: • TRPV6 interacts with tumor suppressor proteins. • Numb has a selective effect on TRPV6, depending on the prostate cancer cell line. • PTEN is a novel regulator of TRPV6–Numb complex. - Abstract: Calcium acts as a second messenger and plays a crucial role in signaling pathways involved in cell proliferation. Recently, calcium channels related to calcium influx into the cytosol of epithelial cells have attracted attention as a cancer therapy target. Of these calcium channels, TRPV6 is overexpressed in prostate cancer and is considered an important molecule in the process of metastasis. However, its exact role and mechanism is unclear. NUMB, well-known tumor suppressor gene, is a novel interacting partner of TRPV6. We show that NUMB and TRPV6 have a reciprocal positive regulatory relationship in PC-3 cells. We repeated this experiment in two other prostate cancer cell lines, DU145 and LNCaP. Interestingly, there were no significant changes in TRPV6 expression following NUMB knockdown in DU145. We revealed that the presence or absence of PTEN was the cause of NUMB–TRPV6 function. Loss of PTEN caused a positive correlation of TRPV6–NUMB expression. Collectively, we determined that PTEN is a novel interacting partner of TRPV6 and NUMB. These results demonstrated a novel relationship of NUMB–TRPV6 in prostate cancer cells, and show that PTEN is a novel regulator of this complex

  11. Reciprocal positive regulation between TRPV6 and NUMB in PTEN-deficient prostate cancer cells

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Sung-Young; Hong, Chansik; Wie, Jinhong [Department of Physiology, Seoul National University College of Medicine, Seoul 110-799 (Korea, Republic of); Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul 110-799 (Korea, Republic of); Kim, Euiyong [Department of Physiology, College of Medicine, Inje University, Busan 614-735 (Korea, Republic of); Kim, Byung Joo [Division of Longevity and Biofunctional Medicine, Pusan National University School of Korean Medicine, Yangsan 626-870 (Korea, Republic of); Ha, Kotdaji [Department of Physiology, Seoul National University College of Medicine, Seoul 110-799 (Korea, Republic of); Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul 110-799 (Korea, Republic of); Cho, Nam-Hyuk; Kim, In-Gyu [Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul 110-799 (Korea, Republic of); Jeon, Ju-Hong [Department of Physiology, Seoul National University College of Medicine, Seoul 110-799 (Korea, Republic of); Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul 110-799 (Korea, Republic of); So, Insuk, E-mail: insuk@snu.ac.kr [Department of Physiology, Seoul National University College of Medicine, Seoul 110-799 (Korea, Republic of); Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul 110-799 (Korea, Republic of)

    2014-04-25

    Highlights: • TRPV6 interacts with tumor suppressor proteins. • Numb has a selective effect on TRPV6, depending on the prostate cancer cell line. • PTEN is a novel regulator of TRPV6–Numb complex. - Abstract: Calcium acts as a second messenger and plays a crucial role in signaling pathways involved in cell proliferation. Recently, calcium channels related to calcium influx into the cytosol of epithelial cells have attracted attention as a cancer therapy target. Of these calcium channels, TRPV6 is overexpressed in prostate cancer and is considered an important molecule in the process of metastasis. However, its exact role and mechanism is unclear. NUMB, well-known tumor suppressor gene, is a novel interacting partner of TRPV6. We show that NUMB and TRPV6 have a reciprocal positive regulatory relationship in PC-3 cells. We repeated this experiment in two other prostate cancer cell lines, DU145 and LNCaP. Interestingly, there were no significant changes in TRPV6 expression following NUMB knockdown in DU145. We revealed that the presence or absence of PTEN was the cause of NUMB–TRPV6 function. Loss of PTEN caused a positive correlation of TRPV6–NUMB expression. Collectively, we determined that PTEN is a novel interacting partner of TRPV6 and NUMB. These results demonstrated a novel relationship of NUMB–TRPV6 in prostate cancer cells, and show that PTEN is a novel regulator of this complex.

  12. Weakness and numbness of extremities with bowel and bladder dysfunction for four years

    Directory of Open Access Journals (Sweden)

    Han-hui FU

    2017-03-01

    Full Text Available The patient was a 53-year-old female who was admitted for “numbness and weakness of lower extremities, urinary and defecation dysfunction for 4 years” in September 2016.  Four years ago, the patient felt numbness and weakness of lower extremities, with chest zonesthesia and back pain. The weakness of left lower extremity got severer next morning and she cannot feel her left foot on the pedal when riding bicycle. At night, she presented numbness under umbilicus level, feet scuff and urine retention. She was also unable to squat. No fever, headache, vomiting or visual defect was found. She was treated as stroke which showed no effect. Two days later, the numbness extended to thoracic level with no sweating below, dyspnea, deep voice, bucking, dysphagia and weakness of both upper and lower extremities. Spinal MRI showed a long T1 signal and long T2 signal extended cervical cord lesion from C4-T5 segments and spinal cord swelling. She was suspected to have multiple sclerosis (MS or neuromyelitis optica (NMO, thus prednisone was given that resulted in the improvement other than numbness of lower extremities, stagger and bladder dysfunction. In the following 4 years, alike symptoms relapsed every year. Though the glucocorticoid treatment was helpful for symptoms remission, sequelae including extremities numbness, weakness, stagger, urinary incontinence and intermittent constipation were left. The predisposing and relieving factors were unclear for relapse. Six months ago, the patient stopped the glucocorticoid treatment by herself, followed by the increase of attack frequencies. One month ago, she got diplopia in the right eye. The patient was admitted for further diagnosis and treatment. Since the onset of symptoms, the patient has been conscious. The appetite and defecation have been normal. No dryness of mouth and eye, shin rash, Reynolds Syndrome, photosensitization and joint pain was noticed. She has a weight loss of 5kg, during which time

  13. Chin region: management of grooves and mandibular hypoplasia with alloplastic implants.

    Science.gov (United States)

    Mittelman, Harry; Spencer, Jared R; Chrzanowski, David S

    2007-11-01

    Using just a small number of alloplastic extended mandibular implants can fulfill more than 95% of the needs of the facial plastic surgeon in chin and prejowl augmentation to restore balance to a patient's jawline. Current chin implants are artistically designed to impart good form and fit and give significant improvement for a somewhat uncomplicated procedure.

  14. Choosing the Best Procedure to Augment the Chin: Is Anything Better than an Implant?

    Science.gov (United States)

    Sykes, Jonathan M; Fitzgerald, Rebecca

    2016-10-01

    The chin plays a very important role in overall facial appearance, and aesthetic procedures to augment the chin in patients with microgenia can improve overall facial balance. Many procedures exist to enhance the appearance of a small chin. Procedures include surgeries such as placement of an alloplast implant and bony osteotomy of the mentum (sliding genioplasty). The advantages and disadvantages of each surgical technique are well documented. Although surgical augmentation of the chin has been the gold standard of therapy, recent development of injectable filler products with lifting capacity has changed the way that many practitioners alter chin shape and size. Filler agents allow augmentation of the chin in horizontal (projection), vertical, and transverse dimensions. Injectable fillers are a simple, noninvasive procedure that causes minimal to no downtime, incurs minimal risks, and allows the practitioner to shape the chin in three dimensions. This procedure allows patients to enhance their chin size without requiring an operative visit. As more and varied filler products become FDA-approved, the versatility and application of these agents will increase. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  15. Morbidity of chin bone transplants used for reconstructing alveolar defects in cleft patients

    NARCIS (Netherlands)

    Booij, A; Raghoebar, GM; Jansma, J; Kalk, WWI; Vissink, A

    Objective: The aim of this study was to evaluate the objective and subjective morbidity of symphyseal chin bone harvesting used for reconstruction of alveolar defects in young cleft patients. Design: All patients who had undergone chin bone harvesting for alveolar cleft reconstruction in the period

  16. Selection played a role in the evolution of the human chin.

    Science.gov (United States)

    Pampush, James D

    2015-05-01

    Chins, which are unique to humans, have generated considerable debate concerning their evolutionary origins, yet a consensus has remained elusive. Many have argued that chins are adaptations for chewing stress, speech, or sexual ornamentation. Alternatively, some have suggested that chins are spandrels-byproducts of selection operating elsewhere in the mandible or face. Lastly, chins could be the product of genetic drift. The questions addressed by this study are: [1] whether chins represent an exceptionally derived morphological condition, and [2] if this can be interpreted as the product of natural selection. These questions are important since the chin is one of the features used to define Homo sapiens in the fossil record. Quantitative measures that capture the degree of chin expression were gathered from a sample of 123 primate taxa, and evolutionary rates associated with these measures were reconstructed in the primate phylogeny. The evolutionary rate associated with these measures was reconstructed to be far higher along the Homo tip (∼77 times greater than the primate background rate of evolution) than elsewhere in the primate phylogeny. These results suggest that human symphyseal morphology is exceptionally derived relative to other primates, and selection has been operational in producing the human chin. Copyright © 2015 Elsevier Ltd. All rights reserved.

  17. Numbness of the Right Hand as the Initial Symptom in Creutzfeldt-Jakob Disease

    OpenAIRE

    Kobayashi, Shotai; Yamaguchi, Shuhei; Tsunematsu, Tokugoro; Harada, Takayuki

    1984-01-01

    A patient with Creutzfeldt-Jakob disease who showed numbness of the right hand as the initial symptom was reported. A 51-year-old man, a dairy farmer, complained of numbness of the right hand. All sensations, except for cortical senses, were reduced in the right hand. Nerve conduction velocities and cervical spine X-ray were normal. During the next three weeks, ataxic hemiparesis, cortical blindness and dementia appeared. He died eight months after the onset. Neuropathological findings reveal...

  18. Numb and Numbl act to determine mammary myoepithelial cell fate, maintain epithelial identity, and support lactogenesis.

    Science.gov (United States)

    Zhang, Yue; Li, Fengyin; Song, Yongli; Sheng, Xiaole; Ren, Fazheng; Xiong, Kai; Chen, Lei; Zhang, Hongquan; Liu, Dequan; Lengner, Christopher J; Xue, Lixiang; Yu, Zhengquan

    2016-10-01

    Mammary epithelium is comprised of an inner layer of luminal epithelial cells and an outer layer of contractile myoepithelial cells with mesenchymal properties. These two compartments interact throughout mammary morphogenesis to form branching ducts during puberty and terminate in secretory alveoli during lactation. It is not known how the myoepithelial cell lineage is specified, nor how signals in myoepithelial cells contribute to lactogenesis. Here, we show that Numb and Numbl are enriched in mammary myoepithelial cells, with their expression peaking during pregnancy. We use conditional Numb- and Numbl-knockout mouse models to demonstrate that loss of Numb/Numbl compromised the myoepithelial layer and expanded the luminal layer, led epithelial cells to undergo epithelial-to-mesenchymal transition, and resulted in lactation failure as a result of abnormal alveolar formation during pregnancy. Numb and Numbl function via repression of the Notch signaling pathway and of the p53-p21 axis during mammary gland development. These findings highlight the importance of Numb and Numbl in the control of myoepithelial cell fate determination, epithelial identity, and lactogenesis.-Zhang Y., Li, F., Song, Y., Sheng, X., Ren, F., Xiong, K., Chen, L., Zhang, H., Liu, D., Lengner, C. J., Xue, L., Yu, Z. Numb and Numbl act to determine mammary myoepithelial cell fate, maintain epithelial identity, and support lactogenesis. © FASEB.

  19. Requiring both avoidance and emotional numbing in DSM-V PTSD: will it help?

    Science.gov (United States)

    Forbes, David; Fletcher, Susan; Lockwood, Emma; O'Donnell, Meaghan; Creamer, Mark; Bryant, Richard A; McFarlane, Alexander; Silove, Derrick

    2011-05-01

    The proposed DSM-V criteria for posttraumatic stress disorder (PTSD) specifically require both active avoidance and emotional numbing symptoms for a diagnosis. In DSM-IV, since both are included in the same cluster, active avoidance is not essential. Numbing symptoms overlap with depression, which may result in spurious comorbidity or overdiagnosis of PTSD. This paper investigated the impact of requiring both active avoidance and emotional numbing on the rates of PTSD diagnosis and comorbidity with depression. We investigated PTSD and depression in 835 traumatic injury survivors at 3 and 12 months post-injury. We used the DSM-IV criteria but explored the potential impact of DSM-IV and DSM-V approaches to avoidance and numbing using comparison of proportion analyses. The DSM-V requirement of both active avoidance and emotional numbing resulted in significant reductions in PTSD caseness compared with DSM-IV of 22% and 26% respectively at 3 and 12 months posttrauma. By 12 months, the rates of comorbid PTSD in those with depression were significantly lower (44% vs. 34%) using the new criteria, primarily due to the lack of avoidance symptoms. These preliminary data suggest that requiring both active avoidance and numbing as separate clusters offers a useful refinement of the PTSD diagnosis. Requiring active avoidance may help to define the unique aspects of PTSD and reduce spurious diagnoses of PTSD in those with depression. Copyright © 2010. Published by Elsevier B.V.

  20. Postoperative morbidity after reconstruction of alveolar bone defects with chin bone transplants in cleft patients - 111 consecutive patients

    DEFF Research Database (Denmark)

    Andersen, Kristian; Nørholt, Sven Erik; Knudsen, Johan

    Postoperative morbidity after reconstruction of alveolar bone defects with chin bone transplants in cleft patients - 111 consecutive patients......Postoperative morbidity after reconstruction of alveolar bone defects with chin bone transplants in cleft patients - 111 consecutive patients...

  1. Neck-tongue syndrome on sudden turning of the head.

    Science.gov (United States)

    Lance, J W; Anthony, M

    1980-01-01

    A syndrome of unilateral upper nuchal or occipital pain, with or without numbness in these areas, accompanied by simultaneous ipsilateral numbness of the tongue is explicable by compression of the second cervical root in the atlantoaxial space on sharp rotation of the neck. Afferents fibres from the lingual nerve travelling via the hypoglossal nerve to the second cervical root provide a plausible anatomical explanation for compression of that root causing numbness of half the tongue. PMID:7359159

  2. Childhood Maltreatment and Post-Deployment Psychological Distress: The Indirect Role of Emotional Numbing.

    Science.gov (United States)

    Presseau, Candice; Contractor, Ateka A; Reddy, Madhavi K; Shea, M Tracie

    2017-10-05

    Childhood maltreatment is an increasingly established predictor of psychological problems. However, limited research addresses pathways though which childhood maltreatment influences the mental health of military personnel following deployment. The current study investigated the direct, and indirect through emotional numbing, relations between childhood maltreatment and psychological distress of recently deployed veterans. For a sample of 131 predominantly White, male Operation Iraqi Freedom/Operation Enduring Freedom members of U.S. Army National Guard and Reserve units, a path model was used to test the direct and indirect (through numbing) roles of childhood maltreatment on distress. Results showed that childhood maltreatment was not significantly directly associated with psychological distress one-year post-deployment but was indirectly related to distress by way of emotional numbing symptoms. Our findings suggest that childhood maltreatment may serve to influence returning veterans' experiences of psychological distress indirectly through increased emotional numbing following deployment. The importance of attending to emotional numbing symptoms among veterans with experiences of childhood maltreatment after deployment is highlighted. (PsycINFO Database Record (c) 2017 APA, all rights reserved).

  3. Short faces, big tongues: developmental origin of the human chin.

    Directory of Open Access Journals (Sweden)

    Michael Coquerelle

    Full Text Available During the course of human evolution, the retraction of the face underneath the braincase, and closer to the cervical column, has reduced the horizontal dimension of the vocal tract. By contrast, the relative size of the tongue has not been reduced, implying a rearrangement of the space at the back of the vocal tract to allow breathing and swallowing. This may have left a morphological signature such as a chin (mental prominence that can potentially be interpreted in Homo. Long considered an autopomorphic trait of Homo sapiens, various extinct hominins show different forms of mental prominence. These features may be the evolutionary by-product of equivalent developmental constraints correlated with an enlarged tongue. In order to investigate developmental mechanisms related to this hypothesis, we compare modern 34 human infants against 8 chimpanzee fetuses, whom development of the mandibular symphysis passes through similar stages. The study sets out to test that the shared ontogenetic shape changes of the symphysis observed in both species are driven by the same factor--space restriction at the back of the vocal tract and the associated arrangement of the tongue and hyoid bone. We apply geometric morphometric methods to extensive three-dimensional anatomical landmarks and semilandmarks configuration, capturing the geometry of the cervico-craniofacial complex including the hyoid bone, tongue muscle and the mandible. We demonstrate that in both species, the forward displacement of the mental region derives from the arrangement of the tongue and hyoid bone, in order to cope with the relative horizontal narrowing of the oral cavity. Because humans and chimpanzees share this pattern of developmental integration, the different forms of mental prominence seen in some extinct hominids likely originate from equivalent ontogenetic constraints. Variations in this process could account for similar morphologies.

  4. Numbing of Positive, Negative, and General Emotions: Associations With Trauma Exposure, Posttraumatic Stress, and Depressive Symptoms Among Justice-Involved Youth.

    Science.gov (United States)

    Kerig, Patricia K; Bennett, Diana C; Chaplo, Shannon D; Modrowski, Crosby A; McGee, Andrew B

    2016-04-01

    Increasing attention has been drawn to the symptom of emotional numbing in the phenomenology of posttraumatic stress disorder (PTSD), particularly regarding its implications for maladaptive outcomes in adolescence such as delinquent behavior. One change in the definition of emotional numbing according to the Diagnostic and Statistical Manual of Mental Disorders (5th ed.; DSM-5; American Psychiatric Association, 2013) was the limitation to the numbing of positive emotions. Previous research with youth, however, has implicated general numbing or numbing of negative emotions in PTSD, whereas numbing of positive emotions may overlap with other disorders, particularly depression. Consequently, the goal of this study was to investigate whether numbing of positive emotions was associated with PTSD symptoms above and beyond numbing of negative emotions, general emotional numbing, or depressive symptoms among at-risk adolescents. In a sample of 221 detained youth (mean age = 15.98 years, SD = 1.25; 50.7% ethnic minority), results of hierarchical multiple regressions indicated that only general emotional numbing and numbing of anger accounted for significant variance in PTSD symptoms (total R(2) = .37). In contrast, numbing of sadness and positive emotions were statistical correlates of depressive symptoms (total R(2) = .24). Further tests using Hayes' Process macro showed that general numbing, 95% CI [.02, .45], and numbing of anger, 95% CI [.01, .42], demonstrated indirect effects on the association between trauma exposure and PTSD symptoms. Copyright © 2016 International Society for Traumatic Stress Studies.

  5. [Expression and Clinical Significance of Numb and P53 Proteins in Epithelial Ovarian Carcinoma].

    Science.gov (United States)

    Xu, Min; He, Hong-Ju; Zhang, Huan; Wang, Ao; Chen, Jie

    2017-01-01

    To investigate the expression and clinical significance of Numb and P53 proteins in epithelial ovarian carcinoma. We co-tested the expressions of Numb and P53 proteins in epithelial ovarian tissues by immunohistochemistry, including 20 cases of normal tissues, 29 cases of benign tumors, 35 cases of borderline ovarian tumors and 87 cases of epithelial ovarian carcinoma. Their clinical significance was analyzed. The positive expression rates of Numb protein in normal ovarian tissues, benign ovarian tumors, borderline ovarian tumors and epithelial ovarian carcinoma were 5%, 13.8%, 51.4% and 70.1%, respectively, and with the rising trend and significantly difference among four groups ( P 0.05). The positive expression rates of P53 protein in normal ovarian tissues, benign ovarian tumors, borderline ovarian tumors and epithelial ovarian carcinoma were 0%, 3.4%, 28.6% and 63.2%, respectively, which had a gradually rising trend with significantly difference among four groups ( P ovarian tumors was significantly higher than those in normal ovarian tissues and benign ovarian tumors ( P ovarian carcinoma group was significantly higher than those in the rest three groups ( P 0.05). The expression of Numb protein was positive correlated with the expression of P53 protein in borderline ovarian tumors and epithelial ovarian carcinoma ( r =0.488, P ovarian carcinoma and two proteins might work together in the development process of epithelial ovarian carcinoma.

  6. Nandrolone reduces activation of Notch signaling in denervated muscle associated with increased Numb expression

    Energy Technology Data Exchange (ETDEWEB)

    Liu, Xin-Hua [Center of Excellence for the Medical Consequences of Spinal Cord Injury, James J. Peter VA Medical Center, Bronx, NY 10468 (United States); Department of Medicine, Mount Sinai School of Medicine, New York, NY 10029 (United States); Yao, Shen; Qiao, Rui-Fang; Levine, Alice C. [Department of Medicine, Mount Sinai School of Medicine, New York, NY 10029 (United States); Kirschenbaum, Alexander [Department of Urology, Mount Sinai School of Medicine, New York, NY 10029 (United States); Pan, Jiangping; Wu, Yong [Center of Excellence for the Medical Consequences of Spinal Cord Injury, James J. Peter VA Medical Center, Bronx, NY 10468 (United States); Qin, Weiping [Center of Excellence for the Medical Consequences of Spinal Cord Injury, James J. Peter VA Medical Center, Bronx, NY 10468 (United States); Department of Medicine, Mount Sinai School of Medicine, New York, NY 10029 (United States); Bauman, William A. [Center of Excellence for the Medical Consequences of Spinal Cord Injury, James J. Peter VA Medical Center, Bronx, NY 10468 (United States); Department of Medicine, Mount Sinai School of Medicine, New York, NY 10029 (United States); Rehabilitation Medicine, Mount Sinai School of Medicine, New York, NY 10029 (United States); Cardozo, Christopher P., E-mail: chris.cardozo@mssm.edu [Center of Excellence for the Medical Consequences of Spinal Cord Injury, James J. Peter VA Medical Center, Bronx, NY 10468 (United States); Department of Medicine, Mount Sinai School of Medicine, New York, NY 10029 (United States); Rehabilitation Medicine, Mount Sinai School of Medicine, New York, NY 10029 (United States)

    2011-10-14

    Highlights: {yields} Nerve transection increased Notch signaling in paralyzed muscle. {yields} Nandrolone prevented denervation-induced Notch signaling. {yields} Nandrolone induced the expression of an inhibitor of the Notch signaling, Numb. {yields} Reduction of denervation-induced Notch signaling by nandrolone is likely through upregulation of Numb. -- Abstract: Nandrolone, an anabolic steroid, slows denervation-atrophy in rat muscle. The molecular mechanisms responsible for this effect are not well understood. Androgens and anabolic steroids activate Notch signaling in animal models of aging and thereby mitigate sarcopenia. To explore the molecular mechanisms by which nandrolone prevents denervation-atrophy, we investigated the effects of nandrolone on Notch signaling in denervated rat gastrocnemius muscle. Denervation significantly increased Notch activity reflected by elevated levels of nuclear Notch intracellular domain (NICD) and expression of Hey1 (a Notch target gene). Activation was greatest at 7 and 35 days after denervation but remained present at 56 days after denervation. Activation of Notch in denervated muscle was prevented by nandrolone associated with upregulated expression of Numb mRNA and protein. These data demonstrate that denervation activates Notch signaling, and that nandrolone abrogates this response associated with increased expression of Numb, suggesting a potential mechanism by which nandrolone reduces denervation-atrophy.

  7. Nandrolone reduces activation of Notch signaling in denervated muscle associated with increased Numb expression

    International Nuclear Information System (INIS)

    Liu, Xin-Hua; Yao, Shen; Qiao, Rui-Fang; Levine, Alice C.; Kirschenbaum, Alexander; Pan, Jiangping; Wu, Yong; Qin, Weiping; Bauman, William A.; Cardozo, Christopher P.

    2011-01-01

    Highlights: → Nerve transection increased Notch signaling in paralyzed muscle. → Nandrolone prevented denervation-induced Notch signaling. → Nandrolone induced the expression of an inhibitor of the Notch signaling, Numb. → Reduction of denervation-induced Notch signaling by nandrolone is likely through upregulation of Numb. -- Abstract: Nandrolone, an anabolic steroid, slows denervation-atrophy in rat muscle. The molecular mechanisms responsible for this effect are not well understood. Androgens and anabolic steroids activate Notch signaling in animal models of aging and thereby mitigate sarcopenia. To explore the molecular mechanisms by which nandrolone prevents denervation-atrophy, we investigated the effects of nandrolone on Notch signaling in denervated rat gastrocnemius muscle. Denervation significantly increased Notch activity reflected by elevated levels of nuclear Notch intracellular domain (NICD) and expression of Hey1 (a Notch target gene). Activation was greatest at 7 and 35 days after denervation but remained present at 56 days after denervation. Activation of Notch in denervated muscle was prevented by nandrolone associated with upregulated expression of Numb mRNA and protein. These data demonstrate that denervation activates Notch signaling, and that nandrolone abrogates this response associated with increased expression of Numb, suggesting a potential mechanism by which nandrolone reduces denervation-atrophy.

  8. Evaluation of morphologic changes of mandibular symphysis after chin cup therapy in skeletally Cl III patients

    Directory of Open Access Journals (Sweden)

    Hosseinzadeh Nik T.

    2008-04-01

    Full Text Available Background and Aim: Chin cup is an orthopedic appliance for treating growing skeletally Cl III patients. The amount of chin forward movement in addition to morphologic changes in bony structure, determines the final profile of treated patients. The aim of this study was to evaluate the amount of morphologic changes of symphysis after chin cup therapy in skeletally Cl III patients.Materials and Methods: In this clinical trial, twenty eight cephalometries before and after chin cup therapy of 14 skeletally Cl III patients were analyzed. Landmarks introduced by Ricketts were determined to evaluate the symphysis and describe its relation to mandible. َAlso four additional measurements regarding the symphysis individually were evaluated and analyzed. Data were analyzed by paired t and pearson tests with P<0.05 as the level of significance.Results: The results showed that the height of symphysis increased after treatment (P=0.02, but its depth decreased (P=0.04. The sysmphysis turned down and back.Conclusion: These findings suggest that in Cl III malocclusions with a prognathic mandible, chin cup therapy creates changes in the horizontal dimension of symphysis morphology, which improves the Cl III profile. If the patient isn't a vertical grower, vertical changes of symphysis would be desirable. In addition, changes in the vertical dimension of the mandible (body and ramus could be observed as a backward and downward rotation.

  9. RNAi-mediated knock-down of Dab and Numb attenuate Aβ levels via γ-secretase mediated APP processing

    Science.gov (United States)

    2012-01-01

    Amyloid-β-protein (Aβ), the key component of senile plaques in Alzheimer's disease (AD) brain, is produced from amyloid precursor protein (APP) by cleavage of β-secretase and then γ-secretase. APP adaptor proteins with phosphotyrosine-binding (PTB) domains, including Dab (gene: DAB) and Numb (gene: NUMB), can bind to and interact with the conserved YENPTY-motif in the APP C-terminus. Here we describe, for the first time, the effects of RNAi knock-down of Dab and Numb expression on APP processing and Aβ production. RNAi knock-down of Dab and Numb in H4 human neuroglioma cells stably transfected to express either FL-APP (H4-FL-APP cells) or APP-C99 (H4-APP-C99 cells) increased levels of APP-C-terminal fragments (APP-CTFs) and lowered Aβ levels in both cell lines by inhibiting γ-secretase cleavage of APP. Finally, RNAi knock-down of APP also reduced levels of Numb in H4-APP cells. These findings suggest that pharmacologically blocking interaction of APP with Dab and Numb may provide novel therapeutic strategies of AD. The notion of attenuating γ-secretase cleavage of APP via the APP adaptor proteins, Dab and Numb, is particularly attractive with regard to therapeutic potential, given that side effects of γ-secretase inhibition owing to impaired proteolysis of other γ-secretase substrates, e.g. Notch, might be avoided. PMID:23211096

  10. Bilateral Heel Numbness due to External Compression during Obstetric Epidural Analgesia

    Directory of Open Access Journals (Sweden)

    Vivian P. Kamphuis

    2015-01-01

    Full Text Available We describe the case of a 32-year-old woman who developed bilateral heel numbness after obstetric epidural analgesia. We diagnosed her with bilateral neuropathy of the medial calcaneal nerve, most likely due to longstanding pressure on both heels. Risk factors for the development of this neuropathy were prolonged labour with spinal analgesia and a continuation of analgesia during episiotomy. Padded footrests decrease pressure and can possibly prevent this neuropathy.

  11. Reduced amygdala and ventral striatal activity to happy faces in PTSD is associated with emotional numbing.

    Directory of Open Access Journals (Sweden)

    Kim L Felmingham

    Full Text Available There has been a growing recognition of the importance of reward processing in PTSD, yet little is known of the underlying neural networks. This study tested the predictions that (1 individuals with PTSD would display reduced responses to happy facial expressions in ventral striatal reward networks, and (2 that this reduction would be associated with emotional numbing symptoms. 23 treatment-seeking patients with Posttraumatic Stress Disorder were recruited from the treatment clinic at the Centre for Traumatic Stress Studies, Westmead Hospital, and 20 trauma-exposed controls were recruited from a community sample. We examined functional magnetic resonance imaging responses during the presentation of happy and neutral facial expressions in a passive viewing task. PTSD participants rated happy facial expression as less intense than trauma-exposed controls. Relative to controls, PTSD participants revealed lower activation to happy (-neutral faces in ventral striatum and and a trend for reduced activation in left amygdala. A significant negative correlation was found between emotional numbing symptoms in PTSD and right ventral striatal regions after controlling for depression, anxiety and PTSD severity. This study provides initial evidence that individuals with PTSD have lower reactivity to happy facial expressions, and that lower activation in ventral striatal-limbic reward networks may be associated with symptoms of emotional numbing.

  12. Social exclusion and pain sensitivity: why exclusion sometimes hurts and sometimes numbs.

    Science.gov (United States)

    Bernstein, Michael J; Claypool, Heather M

    2012-02-01

    Some research indicates that social exclusion leads to increased emotional- and physical-pain sensitivity, whereas other work indicates that exclusion causes emotional- and physical-pain numbing. This research sought to examine what causes these opposing outcomes. In Study 1, the paradigm used to instantiate social exclusion was found to moderate the social exclusion-physical pain relation: Future-life exclusion led to a numbing of physical pain whereas Cyberball exclusion led to hypersensitivity. Study 2 examined the underlying mechanism, which was hypothesized to be the severity of the "social injury." Participants were subjected to either the standard future-life exclusion manipulation (purported to be a highly severe social injury) or a newly created, less-severe version. Supporting our hypothesis, the standard (highly severe) future-life exclusion led to physical-pain numbing, whereas the less-severe future-life exclusion resulted in hypersensitivity. Implications of these results for understanding the exclusion-pain relation and other exclusion effects are discussed.

  13. numb one

    African Journals Online (AJOL)

    PROPRIETAIRE

    tic biologique doit être confié à un labora- toire spécialisé. Sur les 150.000 enfants drépanocytaires qui naissent chaque année dans le monde, envi- ron 120.000 (soit 5 enfants sur 6) sont Afri- cains. La très grande majorité d'entre eux sont homozygotes SS, mais fréquemment en Afri- que de l'Ouest, on trouve des doubles.

  14. numb one

    African Journals Online (AJOL)

    PROPRIETAIRE

    and sometimes large vessels cause vascular injury leading to multiple organ dysfunction and complications. ... affected in infants, and long bones in older children [1]. In sicklers, bone lesions are multifocal, bilateral and ... 4- ASEPTIC BONE NECROSIS. It occurs in 10 to 50% of adults with SCA. [2]. This complication occurs ...

  15. numb one

    African Journals Online (AJOL)

    PROPRIETAIRE

    hémoglobine S et identifier sa forme homo ou hétérozygote : - Les hématies fœtales peuvent être incubées en présence d'un précurseur radioac- tif (leucine 3H) qui va marquer les chaînes néosynthétisées par chromatographie d'échange d'ions.

  16. numb one

    African Journals Online (AJOL)

    PROPRIETAIRE

    anémie . On distingue deux .... quées par l'anémie à l'origine d'une cardiomégalie et d'un cœur pulmonaire chro- nique. L'examen du ... valvulaire impose la prévention de la greffe oslérienne. Par ailleurs, toute défaillance car- diaque doit être ...

  17. numb one

    African Journals Online (AJOL)

    PROPRIETAIRE

    brane érythrocytaire, à relier à la diminution de la déformabilité. - En 1984 , la première transplantation de la moelle chez un enfant a produit la guérison complète. Cette transplantation a été faite pour traiter une leucémie aiguë et la guérison de sa drépanocytose était une événement inattendu. Clinics in Mother and Child ...

  18. numb one

    African Journals Online (AJOL)

    PROPRIETAIRE

    Selon l'OMS environ 100 millions d'individus portent le trait drépanocytaire AS et il naît chaque année. 100.000 enfants drépanocytaires homozygotes dans le monde. En Afrique les porteurs du trait drépanocytaire ont une prévalence qui varie jusqu'à 30% voire plus de la population de certaines régions. Les crises dou-.

  19. numb one

    African Journals Online (AJOL)

    PROPRIETAIRE

    Dans cet article, les auteurs rappellent les principales indications de l'examen anatomopathologique du placenta. Ils essaient d'élucider, au vue de la littérature l'atteinte placentaire en cas de drépanocytose, marquée par le faible poids, les infarctus,la sclérose des villosités, la présence des érythrocytes en faucilles.

  20. numb one

    African Journals Online (AJOL)

    PROPRIETAIRE

    La drépanocytose homozygote SS entraîne chez l'enfant le développement d'une anémie chronique qui s'accompagne d'anomalie ostéo-articulaire et viscérale domiminées par les manifestations de l'hyperplasie médullaire les thromboses, les infarctus osseux, et les troubles de croissance. Mots clés : Drépanocytose ...

  1. [Analysis of articles published in Chin J Surg since founded in 1951].

    Science.gov (United States)

    Xia, Shuang; Li, Jing

    2016-01-01

    To discuss the characteristics of the articles published in Chin J Surg from 1951 to 2015. The journals and articles of Acad Surg from 1951 to 1952 and Chin J Surg from 1953 to 2015 were analyzed. The subjects, foundation, basic medical study, international cooperation of the articles were recorded. In 65 years, there were 20 090 academic articles published in Chin J Surg. The proportions of general surgery, orthopedic surgery, thoracocardiac surgery, urology surgery and neurosurgery articles were 34.08%, 17.96%, 13.09%, 11.91% and 5.85%, respectively. There were 14.83% (1 728/11 653) articles receiving foundation, and 9.42% (1 817/19 290) articles reporting basic medical study. There were 14.8% articles from international authors and 119 articles with international cooperation. From 2000 to 2003, 29 articles in original English were published. The coverage of Chin J Surg contains all the fields of surgery. It tends to publish the studies focus on clinical issues.Through reinforcing the content plan and optimizing the show form, the more Chinese surgical research achievements could be shared by the surgeons worldwide.

  2. Characterization of Human Knee and Chin Adipose-Derived Stromal Cells

    Directory of Open Access Journals (Sweden)

    Magali Kouidhi

    2015-01-01

    Full Text Available Animal study findings have revealed that individual fat depots are not functionally equivalent and have different embryonic origins depending on the anatomic location. Mouse bone regeneration studies have also shown that it is essential to match the Hox code of transplanted cells and host tissues to achieve correct repair. However, subcutaneous fat depots from any donor site are often used in autologous fat grafting. Our study was thus carried out to determine the embryonic origins of human facial (chin and limb (knee fat depots and whether they had similar features and molecular matching patterns. Paired chin and knee fat depots were harvested from 11 subjects and gene expression profiles were determined by DNA microarray analyses. Adipose-derived stromal cells (ASCs from both sites were isolated and analyzed for their capacity to proliferate, form clones, and differentiate. Chin and knee fat depots expressed a different HOX code and could have different embryonic origins. ASCs displayed a different phenotype, with chin-ASCs having the potential to differentiate into brown-like adipocytes, whereas knee-ASCs differentiated into white adipocytes. These results highlighted different features for these two fat sites and indicated that donor site selection might be an important factor to be considered when applying adipose tissue in cell-based therapies.

  3. Kinematic and electromyographic comparisons between chin-ups and lat-pull down exercises.

    Science.gov (United States)

    Doma, Kenji; Deakin, Glen B; Ness, Kevin F

    2013-09-01

    The purpose of this study was to compare kinematics and muscle activity between chin-ups and lat-pull down exercises and between muscle groups during the two exercises. Normalized electromyography (EMG) of biceps brachii (BB), triceps brachii (TB), pectoralis major (PM), latissimus dorsi (LD), rectus abdominus (RA), and erector spinae (ES) and kinematics of back, shoulder, and seventh cervical vertebrae (C7) was analysed during chin-ups and lat-pull down exercises. Normalized EMG of BB and ES and kinematics of shoulder and C7 for chin-ups were greater than lat-pull down exercises during the concentric phase (p ups and the kinematics of C7 during chin-ups was greater than lat-pull down exercises (p ups, BB, LD, and ES were greater than PM during the concentric phase, whereas BB and LD were greater than TB, and LD was greater than RA during the eccentric phase (p ups appears to be a more functional exercise.

  4. A Dialogue with Lisa Chin: An Asian-American Feminist Perspective.

    Science.gov (United States)

    McLaren, Peter

    1994-01-01

    The terms "Asian" and "Pacific Islanders" capture diverse historical relationships and a powerful cultural/linguistic diversity. Many Asian-Pacific Americans have succeeded despite monumental prejudices and obstacles, including the "model minority" myth promoted by conservatives to limit affirmative action. Chin's…

  5. Nest site selection in native and exotic trees by Black-chinned Hummingbirds

    Science.gov (United States)

    Deborah M. Finch; Jeffrey Kelly

    2002-01-01

    We studied nest site selection and nesting success in Black-chinned Hummingbirds (Archilochus alexandri) along the middle Rio Grande, New Mexico. The study was conducted in association with an exotic woody plant removal program to determine whether the removal of exotic plants would affect wildlife populations and nesting success, either positively or negatively. Point...

  6. Evaluation of only the chin or lower abdomen for predicting hirsutism

    Directory of Open Access Journals (Sweden)

    Homeira Rashidi

    2013-01-01

    Full Text Available Background: Hirsutism is defined as the growth of terminal hair in a male pattern in women; it affects 5-15% of women. Objective: The aim of this study is evaluation of only the chin or lower abdomen for predicting hirsutism. Materials and Methods: In this cross-sectional diagnostic study, we randomly selected 695 women aged 15-45 years. The examiners scored the subjects on a scale of 0 - 4 for terminal hair growth on nine different body areas according to the Ferriman-Gallwey (FG scoring system in a form given to the examiners before the examination. An FG score of 8 or more was considered diagnostic of hirsutism. If the sum of the FG scores for the chin or lower abdomen was 2 or more, the test result was assumed to be positive. Statistical analysis was performed using the MacNemar test, and a P value of less than 0.05 was considered to be statistically significant. Results: The age group with the highest prevalence rate was 21-25 years. From the 695 subjects examined, 81 subjects (11.7% had an FG score of 8 or more with a resultant prevalence rate of 11.7% for hirsutism. In our study population, 39% of the patients had an FG score of 2 or more for the chin or lower abdomen, and 61% of the patients had an FG score of less than 2 for the chin or lower abdomen. Conclusion: Evaluating terminal hair growth on the chin or lower abdomen for predicting hirsutism seems to be an acceptable screening method.

  7. Fiddler's neck: Chin rest-associated irritant contact dermatitis and allergic contact dermatitis in a violin player.

    Science.gov (United States)

    Caero, Jennifer E; Cohen, Philip R

    2012-09-15

    Fiddler's neck refers to an irritant contact dermatitis on the submandibular neck of violin and viola players and an allergic contact dermatitis to nickel from the bracket attaching the violin to the chin rest on the violinist's supraclavicular neck. A 26-year-old woman developed submandibular and supraclavicular left neck lesions corresponding to the locations of the chin rest and bracket that was attached to her violin that held it against her neck when she played. Substitution of a composite chin rest, which did not contain nickel, and the short-term application of a low potency topical corticosteroid cream, resulted in complete resolution of the allergic contact dermatitis supraclavicular neck lesion. The irritant contact dermatitis submandibular neck lesion persisted. In conclusion, violin players are predisposed to developing irritant contact dermatitis or allergic contact dermatitis from the chin rest. We respectfully suggest that the submandibular neck lesions from contact with the chin rest be referred to as 'fiddler's neck - type 1,' whereas the supraclavicular neck lesions resulting from contact of the bracket holding the chin rest in place be called 'fiddler's neck - type 2.' A composite chin rest should be considered in patients with a preceding history of allergic contact dermatitis to nickel.

  8. Regulation of PTEN degradation and NEDD4-1 E3 ligase activity by Numb.

    Science.gov (United States)

    Shao, Chen; Li, Zhiguo; Ahmad, Nihal; Liu, Xiaoqi

    2017-05-19

    The critical tumor suppressor PTEN is regulated by numerous post-translational modifications including phosphorylation, acetylation and ubiquitination. Ubiquitination of PTEN was reported to control both PTEN stability and nuclear localization. Notably, the HECT E3-ligase NEDD4-1 was identified as the ubiquitin ligase for PTEN, mediating its degradation and down-stream events. However, the mechanisms how NEDD4-1 is regulated by up-stream signaling pathways or interaction with other proteins in promoting PTEN degradation remain largely unclear. In the present study, we identified that the adaptor protein Numb, which is demonstrated to be a novel binding partner of NEDD4-1, plays important roles in controlling PTEN ubiquitination through regulating NEDD4-1 activity and the association between PTEN and NEDD4-1. Furthermore, we provided data to show that Numb regulates cell proliferation and glucose metabolism in a PTEN-dependent manner. Overall, our study revealed a novel regulation of the well-documented NEDD4-1/PTEN pathway and its oncogenic behavior.

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

    Directory of Open Access Journals (Sweden)

    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.

  10. A modified technique for expanded polytetrafluoroethylene shaping in chin augmentation: parallel groove carving technique.

    Science.gov (United States)

    Yang, Ping; Yang, Qingjian; Liu, Tianyi; Zeng, Jiping; Bi, Bo; Zhou, Yiqun; Guo, Yu; Chen, Liang

    2015-03-01

    In the current study, we restricted our focus on a modified approach to address the poor curved attachment of expanded polytetrafluoroethylenein chin augmentation. The implant is shaped generally in accordance with the chin, followed by 5-to-8 longitudinally parallel "V"-grooves carved in the median of posterior site where the implant directly attaches to the mandible. Thus, it enhances bend ductility of the prosthesis and renders better attachment from the curved surface of prosthesis to the mandibular embedded region. This procedure was performed in 15 patients. After follow-up for 2 to 6 months, there were no complications observed postoperatively including mobilization, dead space, subcutaneous dropsy, topical infection, or palpable edges in the subcutaneous area. The introduction of longitudinally parallel V-groove technique provides an effective method for avoidance of increasing hardness, decreasing flexibility, and palpable edges after implantation.As a novel and effective technique, it is beneficial for better attachment and satisfactory outcome without causing extra expenses.

  11. Geographic variation in chin shape challenges the universal facial attractiveness hypothesis.

    Directory of Open Access Journals (Sweden)

    Zaneta M Thayer

    Full Text Available The universal facial attractiveness (UFA hypothesis proposes that some facial features are universally preferred because they are reliable signals of mate quality. The primary evidence for this hypothesis comes from cross-cultural studies of perceived attractiveness. However, these studies do not directly address patterns of morphological variation at the population level. An unanswered question is therefore: Are universally preferred facial phenotypes geographically invariant, as the UFA hypothesis implies? The purpose of our study is to evaluate this often overlooked aspect of the UFA hypothesis by examining patterns of geographic variation in chin shape. We collected symphyseal outlines from 180 recent human mandibles (90 male, 90 female representing nine geographic regions. Elliptical Fourier functions analysis was used to quantify chin shape, and principle components analysis was used to compute shape descriptors. In contrast to the expectations of the UFA hypothesis, we found significant geographic differences in male and female chin shape. These findings are consistent with region-specific sexual selection and/or random genetic drift, but not universal sexual selection. We recommend that future studies of facial attractiveness take into consideration patterns of morphological variation within and between diverse human populations.

  12. Force transmission to the mandible by chin straps during head impacts in football.

    Science.gov (United States)

    Rowson, Steven; McNeely, David E; Duma, Stefan M

    2008-01-01

    The objective of this study was to determine the force transmitted to the mandible from the chin strap in football helmets for head impacts. A total of 32 tests were performed comparing front and side impact locations. Each location was tested at two impact velocities (6.5 m/s and 9.0 m/s). Different combinations of neck collars and shoulder pads were tested at each speed and location to account for potential equipment variability between football players. A 50th percentile male Hybrid III dummy was equipped with a helmet, shoulder pads, and various neck collars. Tension load cells were installed on the left and right sides of the chin straps. From the tension values in the chin strap, the force transmitted to the mandible was calculated. With the front impact location, the average peak mandible load was 568 +/- 80 N at 6.5 m/s and 806 +/- 64 N at 9.0 m/s. With the side impact location, the average peak mandible load was 87 +/- 36 N at 6.5 m/s and 170 +/- 80 N at 9.0 m/s. Although there are some overlying assumptions, these values represent a good estimation of the forces acting on the mandible for head impacts in football.

  13. Effectiveness of Chin-tuck Maneuver to Facilitate Swallowing in Neurologic Dysphagia

    Directory of Open Access Journals (Sweden)

    Saconato, Mariana

    2015-10-01

    Full Text Available Introduction The chin-tuck maneuver is the most frequently employed postural maneuver in the treatment of neurogenic oropharyngeal dysphagia caused by encephalic vascular strokes and degenerative diseases. Objective The purpose of this study was to investigate the effectiveness of this maneuver in patients with neurogenic dysphagia and factors that could interfere in it. Methods In this retrospective cohort, we analyzed the medical files and videofluoroscopy exams of 35 patients (19 male – 54% and 16 female – 46%; age range between 20 and 89 years old; mean = 69 years. Results The results suggest that the effectiveness of chin-tuck maneuver is related to the overall degree of dysphagia: the more severe the dysphagia, the less effective the maneuver. Conclusion Chin-tuck maneuver should benefit dysphagic patients with delay in the swallowing trigger, reduced laryngeal elevation, and difficulties to swallow liquids, but is not the best compensatory strategy for patients with severe dysphagia.

  14. The lady and the eel: how Aphra Behn introduced Europeans to the "numb eel".

    Science.gov (United States)

    Finger, Stanley

    2012-01-01

    Aphra Behn (1640-1689) has been called the first professional British female writer. Behn probably visited Surinam in the 1660s, but it was not until 1688 that she wrote Oroonoko: or, The Royal Slave, the novel for which she is best remembered. Although overlooked by historians of science, Oroonoko provided a description of the "numb eel," effectively introducing many Europeans to the exotic and frightening creature that would become known as the "electric eel" during the second half of the 1700s, when it would play a central role in showing the reality of animal electricity, effectively putting neuromuscular physiology on its more modern course. This article examines Behn's early life, including why she might have gone to Surinam, the sources that might have helped her write her colorful description of the eel, and how what she had written circulated widely and continued to contribute to the changing scientific landscape after her death.

  15. Skin irritation from a facial mask in Class III malocclusion: evaluation of individual silicone chin cups in a group of 100 children.

    Science.gov (United States)

    Ierardo, Gaetano; Luzzi, Valeria; Vozza, Iole; Polimeni, Antonella; Bossù, Maurizio

    2018-04-01

    Reverse headgear (a facial mask) is one of the most frequently used interceptive orthodontic devices in patients with Class III malocclusion. It is a simple device but may present some drawbacks related to pressure on the skin generated by the forehead and chin supports linked to the maxillary intraoral appliance by elastics. This can cause injury to the chin and lips. Patients between 7 and 8 years of age were selected from the Unit of Pediatric Dentistry. Orthopedic therapy with a rapid palatal expander and reverse headgear was prescribed for all subjects. The patients were divided into two groups: those who used a facial mask without a silicone chin cup and those who used a facial mask with a silicone chin cup. Two-hundred subjects including 90 male patients and 110 female patients were enrolled. The groups that used a facial mask with and without a silicone chin cup included 100 patients each. The percentage of subjects without irritation was significantly greater in the group with a silicone chin cup than in the group without a silicone chin cup. The authors propose a simple and effective solution to prevent skin irritation on the chin caused by a facial mask. A chin mask is a custom solution that can prevent injury to the chin during treatment when coupled with facial mask therapy.

  16. Lineage-specific effects of Notch/Numb signaling in post-embryonic development of the Drosophila brain.

    Science.gov (United States)

    Lin, Suewei; Lai, Sen-Lin; Yu, Huang-Hsiang; Chihara, Takahiro; Luo, Liqun; Lee, Tzumin

    2010-01-01

    Numb can antagonize Notch signaling to diversify the fates of sister cells. We report here that paired sister cells acquire different fates in all three Drosophila neuronal lineages that make diverse types of antennal lobe projection neurons (PNs). Only one in each pair of postmitotic neurons survives into the adult stage in both anterodorsal (ad) and ventral (v) PN lineages. Notably, Notch signaling specifies the PN fate in the vPN lineage but promotes programmed cell death in the missing siblings in the adPN lineage. In addition, Notch/Numb-mediated binary sibling fates underlie the production of PNs and local interneurons from common precursors in the lAL lineage. Furthermore, Numb is needed in the lateral but not adPN or vPN lineages to prevent the appearance of ectopic neuroblasts and to ensure proper self-renewal of neural progenitors. These lineage-specific outputs of Notch/Numb signaling show that a universal mechanism of binary fate decision can be utilized to govern diverse neural sibling differentiations.

  17. Chin augmentation

    Science.gov (United States)

    ... shape (contour) Movement of the implant Smoking can delay healing. After the Procedure You will feel some ... urac.org). URAC's accreditation program is an independent audit to verify that A.D.A.M. follows ...

  18. Assessing the influence of chin prominence on profile esthetics: A survey study.

    Science.gov (United States)

    Pişiren, Akın Buğra; Arman-Özçırpıcı, Ayça; Tunçer, Nilüfer İrem

    2018-01-31

    The aim of this survey study was to assess the influence of chin prominence on the perception of profile esthetics between genders by orthodontists, oral and maxillofacial surgeons (OMF), plastic surgeons, orthognathic patients and laypersons. A total of 731 observers participated in this study. Profile photographs of one female and one male showing ideal soft tissue values, skeletal class 1 relationship, and normodivergent facial type were modified with photo editing program (Adobe Photoshop CC software), so that the chin was moved posteriorly up to 10 mm and anteriorly up to 8 mm at 2-mm intervals. Participants were asked to rate 11 female and 11 male profile images and to assess whether surgery was needed. Within the limits of this study, ideal, slightly concave and slightly convex profiles for females, and ideal and slightly concave profiles for males were found more acceptable. Surgery was desired for 50.9% of retrusive profiles and 57.3% of protrusive profiles. Female participants had a higher rate of desire for surgery than male participants, and clinicians desired surgery significantly less than others. Desire for surgery started from 4 mm in males and females for all groups, from -6 mm in orthodontists and OMFs, from -4 mm in other groups in females, and from -6 mm in males for all groups. Clinicians tend to operate more pronounced cases when compared to laypeople. A significantly higher rate of surgery was desired for protrusive chin profiles, and female participants had a higher desire for surgery. Copyright © 2018 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

  19. Does a minimal invasive approach reduce anterior chest wall numbness and postoperative pain in plate fixation of clavicle fractures?

    Science.gov (United States)

    Beirer, Marc; Postl, Lukas; Crönlein, Moritz; Siebenlist, Sebastian; Huber-Wagner, Stefan; Braun, Karl F; Biberthaler, Peter; Kirchhoff, Chlodwig

    2015-05-28

    Fractures of the clavicle present very common injuries with a peak of incidence in young active patients. Recently published randomized clinical trials demonstrated an improved functional outcome and a lower rate of nonunions in comparison to non-operative treatment. Anterior chest wall numbness due to injury of the supraclavicular nerve and postoperative pain constitute common surgery related complications in plate fixation of displaced clavicle fractures. We recently developed a technique for mini open plating (MOP) of the clavicle to reduce postoperative numbness and pain. The purpose of this study was to analyze the size of anterior chest wall numbness and the intensity of postoperative pain in MOP in comparison to conventional open plating (COP) of clavicle fractures. 24 patients (mean age 38.2 ± 14.2 yrs.) with a displaced fracture of the clavicle (Orthopaedic Trauma Association B1.2-C1.2) surgically treated using a locking compression plate (LCP) were enrolled. 12 patients underwent MOP and another 12 patients COP. Anterior chest wall numbness was measured with a transparency grid on the second postoperative day and at the six months follow-up. Postoperative pain was evaluated using the Visual Analog Scale (VAS). Mean ratio of skin incision length to plate length was 0.61 ± 0.04 in the MOP group and 0.85 ± 0.06 in the COP group (p VAS was 2.6 ± 1.4 points in the MOP group and 3.4 ± 1.6 points in the COP group (p = 0.20). In our study, MOP significantly reduced anterior chest wall numbness in comparison to a conventional open approach postoperative as well as at the six months follow-up. Postoperative pain tended to be lower in the MOP group, however this difference was not statistically significant. ClinicalTrials.gov NCT02247778 . Registered 21 September 2014.

  20. Chin and prejowl augmentation in the management of the aging jawline.

    Science.gov (United States)

    Romo, Thomas; Yalamanchili, Haresh; Sclafani, Anthony P

    2005-02-01

    The effects of aging in the lower face and neck are reflected in the contour of the jawline. Soft tissue atrophy, the formation of jowls, and retrusion of the chin are all age-associated changes that contrast starkly with the smooth harmony of a young lower face. These soft tissue changes in the jawline are exacerbated by the effects of aging on the bony portion of the mandible. Bone resorption of the mandible seen with aging can lead to the development of a hypoplastic mentum and the formation of an anterior mandibular groove. Rhytidectomy serves to address the soft tissue changes from aging but cannot counter the effects of aging on the bony mandible itself. Understanding the effects of bone resorption on the aging mandible allows the facial plastic surgeon to augment the mandible appropriately to achieve a more effective rejuvenation of the lower face. The aging process in the mandible and the development of the prejowl sulcus are reviewed. The use of chin and prejowl augmentation as a valuable adjuvant to facelift surgery is discussed.

  1. Ectoparasites of the black-chinned siskin Spinus barbatus (Passeriformes: Fringillidae in Chile

    Directory of Open Access Journals (Sweden)

    Danny Fuentes-Castillo

    Full Text Available Abstract Despite being a bird with a broad and extensive distribution in Chile, the black-chinned siskin, Spinus barbatus Molina, 1782 is not well studied in relation to its parasites. This paper aims to describe the ectoparasite fauna of S. barbatus in central and southern Chile. A total of 125 individuals caught with mist nets were examined alive; a total of 22 parasites were found dead and were exposed to parasit autopsy. The extracted parasites were preserved in 70% alcohol for subsequent mounting and identification. Ectoparasites were found in 56 black-chinned siskins (38%; 48 of them (33% had 870 mites – 680 feather mites (Astigmata: Analgoidea were identified as Proctophyllodes spini, 167 as Knemidokoptes jamaicensis, 19 as Strelkoviacarus critesi, and one as Analges passerinus. Moreover, three mites were chiggers belonging to the tribe Schoengastiini (Prostigmata: Trombiculidae. In 21 birds (14%, 54 lice were found, 21 of which were identified as Philopterus roehreri, 18 as Myrsidea serini, and 15 as Ricinus carolynae. Endoparasites were not found in the necropsied individuals. All of the parasites that were found represent new records for Chile, and they also serve as new records of host–parasite associations for S. barbatus.

  2. "Numb-Leg" in a CrossFit Athlete: A Case Presentation.

    Science.gov (United States)

    Esser, Stephan; Thurston, Mckennan; Nalluri, Krishna; Muzaurieta, Aurelio

    2017-08-01

    Participation in CrossFit athletics and Olympic-style lifting by the general populace has rapidly increased in the last 10 years. Such athletic engagement poses unique, inadequately defined risks to the participant. We describe the case of a 36-year-old man who presented to an outpatient sports medicine clinic with 6 weeks of numbness and tingling in the lateral right proximal thigh. After thorough examination and electromyographic testing, he was found to have a lateral femoral cutaneous neuropathy caused by performing supine gluteal bridges with a weighted barbell resting across his anterior thighs. His case exemplifies the unique exercise demands and injury risks of CrossFit-style exercise. Sports medicine providers should be familiar with both trends in sports/fitness participation and the associated unique risks that such sports pose, so as to adequately counsel patients on safety of participation and to correctly identify the cause of injury when evaluating patients in the clinical setting. V. Copyright © 2017 American Academy of Physical Medicine and Rehabilitation. Published by Elsevier Inc. All rights reserved.

  3. Complaints of Upper Extremity Numbness and Tingling Relieved With Dry Needling of the Teres Minor and Infraspinatus: A Case Report.

    Science.gov (United States)

    Lane, Elizabeth; Clewley, Derek; Koppenhaver, Shane

    2017-04-01

    Study Design Case report. Background Abnormal sensation, such as numbness or tingling, is traditionally thought to originate from neural compression. There is limited evidence to support reports of abnormal sensation arising from a trigger point. Case Description The patient was a 60-year-old woman with a primary complaint of right shoulder pain and secondary complaints of neck pain and right upper extremity numbness. Cervical spine neurological examination was unremarkable, and manual examination did not reproduce the patient's arm numbness or tingling symptoms. Compression of a trigger point in the infraspinatus and teres minor reproduced the patient's primary complaint of shoulder pain. The initial intervention included dry needling, which reproduced her upper extremity numbness. Subsequent treatment included manual therapy and exercise. Outcomes The patient was seen for a total of 3 visits, including the evaluation. Dry needling was utilized in 2 of her 3 visits. At discharge, she reported complete resolution of pain and altered sensation. Additionally, her scores on the Neck Disability Index, numeric pain-rating scale, and global rating of change exceeded the minimal clinically important difference. These outcomes were maintained at 2- and 12-month follow-up phone calls. Discussion This case report described the examination and use of dry needling in a case where the diagnosis was unclear. Clinicians may consider trigger point referral when examining patients with reports of abnormal sensation, especially when a more common cause cannot be identified. Level of Evidence Therapy, level 5. J Orthop Sports Phys Ther 2017;47(4):287-292. Epub 3 Mar 2017. doi:10.2519/jospt.2017.7055.

  4. Investigation of the optimal detector arrangement for the helmet-chin PET – A simulation study

    Energy Technology Data Exchange (ETDEWEB)

    Ahmed, Abdella M., E-mail: abdellanur@gmail.com; Tashima, Hideaki; Yoshida, Eiji; Yamaya, Taiga, E-mail: yamaya.taiga@qst.go.jp

    2017-06-21

    High sensitivity and high spatial resolution dedicated brain PET scanners are in high demand for early diagnosis of neurodegenerative diseases and studies of brain functions. To meet the demand, we have proposed the helmet-chin PET geometry which has a helmet detector and a chin detector. Our first prototype scanner used 54 4-layer depth-of-interaction (DOI) detectors. The helmet detector of the scanner had three detector rings with different radii arranged on a surface of a hemisphere (with a radius of 126.5 mm) and a top cover detector. Therefore, in this study, for our next development, we propose a spherical arrangement, in which the central axis of each detector points toward the center of the hemisphere, and we optimize the size of the detector crystal block to be arranged on the helmet detector. We simulate the spherical arrangement with the optimized crystal block size and compare its imaging performance with the multi-ring arrangement, which has a similar detector arrangement to that of our first prototype. We conduct Monte Carlo simulation to model the scanners having the 4-layer DOI detectors which consist of LYSO crystals. A dead space of 2 mm is assumed on each side of the crystal blocks such as for wrapping. The size of the crystal block is varied from 4×4 mm{sup 2} to 54×54 mm{sup 2} while fixing the thickness of the crystal block to 20 mm. We find that the crystal block sized at 42×42 mm{sup 2} has the highest sensitivity for a hemispherical phantom. The comparison of the two arrangements with the optimized crystal blocks show that, for the same number of crystal blocks, the spherical arrangement has 17% higher sensitivity for the hemispherical phantom than the multi-ring arrangement. We conclude that the helmet-chin PET with the spherical arrangement constructed from the crystal block sized at 42×42×20 mm{sup 3} has better imaging performance especially at the upper part of the brain compared to the multi-ring arrangement while keeping similar

  5. Caso de estudo: a entrada do azeite Gallo no mercado chinês

    OpenAIRE

    Costa, Miguel Maria Portugal Martins

    2014-01-01

    Mestrado em Gestão 7 Classificação JEL: M16; F23 A elaboração desta dissertação consiste na criação de um caso de estudo pedagógico com o objectivo de tirar ilações sobre a entrada da marca “Azeite Gallo” no mercado Chinês. Optamos por desenvolver este caso de estudo através de um estudo qualitativo, suportado por um referencial teórico. O intuito do projecto é de documentar um exemplo paradigmático de um produto consumível de marca portuguesa que sucedeu em ultrapassar as barreiras ...

  6. Achieving Ideal Lower Face Aesthetic Contours: Combination of Tridimensional Fat Grafting to the Chin with Masseter Botulinum Toxin Injection.

    Science.gov (United States)

    Chang, Chun-Shin; Kang, Gavin Chun-Wui

    2016-11-01

    Lower face aesthetic contouring is in high demand among Asians with wide and short faces desiring a slim lower face. For this purpose invasive mandible angle reduction and genioplasty are complex procedures with significant risks and downtime. Non-invasive botulinum toxin A injection into bilateral masseters - while popular for lower face contouring - does not address facial length deficiency in wide and short faces. Autologous chin fat grafting is a simple minimally-invasive technique for facial lengthening. We present our experience pairing chin fat grafting and masseteric botulinum toxin injection for effective lower face contouring. Thirteen consecutive patients with relatively wide and short faces underwent chin fat grafting and 1 to 3 serial masseteric botulinum toxin A injections. Mean follow up after final intervention was 20 months (range, 6 months to 3 years). The postoperative mean ratio of bigonial distance to total facial height improved from 0.599 to 0.569 (P tridimensional chin fat grafting and botulinum toxin masseteric injection is an effective, simple, fast, inexpensive, safe, and minimally-invasive strategy for aesthetic lower face contouring of short and wide faces, with short downtime, long-lasting results, and high patient satisfaction. 4 Therapeutic. © 2016 The American Society for Aesthetic Plastic Surgery, Inc. Reprints and permission: journals.permissions@oup.com.

  7. Cell division genes promote asymmetric interaction between Numb and Notch in the Drosophila CNS.

    Science.gov (United States)

    Wai, P; Truong, B; Bhat, K M

    1999-06-01

    Cell intrinsic and cell extrinsic factors mediate asymmetric cell divisions during neurogenesis in the Drosophila embryo. In the NB4-2->GMC-1->RP2/sib lineage, one of the well-studied neuronal lineages in the ventral nerve cord, the Notch (N) signaling interacts with the asymmetrically localized Numb (Nb) to specify sibling neuronal fates to daughter cells of GMC-1. In this current study, we have investigated asymmetric cell fate specifications by N and Nb in the context of cell cycle. We have used loss-of-function mutations in N and nb, cell division mutants cyclinA (cycA), regulator of cyclin A1 (rca1) and string/cdc25 phosphatase (stg), and the microtubule destabilizing agent, nocodazole, to investigate this issue. We report that the loss of cycA, rca1 or stg leads to a block in the division of GMC-1, however, this GMC-1 exclusively adopts an RP2 identity. While the loss of N leads to the specification of RP2 fates to both progeny of GMC-1 and loss of nb results in the specification of sib fates to these daughter cells, the GMC-1 in the double mutant between nb and cycA assumes a sib fate. These epistasis results indicate that both N and nb function downstream of cell division genes and that progression through cell cycle is required for the asymmetric localization of Nb. In the absence of entry to metaphase, the Nb protein prevents the N signaling from specifying sib fate to the RP2/sib precursor. These results are also consistent with our finding that the sib cell is specified as RP2 in N; nb double mutants. Finally, our results show that nocodazole-arrested GMC-1 in wild-type embryos randomly assumes either an RP2 fate or a sib fate. This suggests that microtubules are involved in mediating the antagonistic interaction between Nb and N during RP2 and sib fate specification.

  8. In-The-Moment Dissociation, Emotional Numbing, and Sexual Risk: The Influence of Sexual Trauma History, Trauma Symptoms, and Alcohol Intoxication

    Science.gov (United States)

    Stappenbeck, Cynthia A.; George, William H.; Staples, Jennifer; Nguyen, Hong; Davis, Kelly Cue; Kaysen, Debra; Heiman, Julia R.; Masters, N. Tatiana; Norris, Jeanette; Danube, Cinnamon L.; Gilmore, Amanda K.; Kajumulo, Kelly F.

    2015-01-01

    Objective Prior research on the effects of sexual trauma has examined dissociation but not emotional numbing during sex and has relied exclusively on retrospective surveys. The present experiment examined associations among distal factors of childhood sexual abuse (CSA), adolescent/adult sexual assault (ASA), and trauma symptoms and the proximal factor of acute alcohol intoxication on in-the-moment dissociation, emotional numbing, and sexual risk intentions. Method Young adult female drinkers (N = 436) at elevated sexual risk were randomized to receive alcohol (target peak breath alcohol concentration = .10%) or no alcohol. They then read an eroticized sexual scenario and reported on their dissociation and emotional numbing experiences, unprotected sex refusal self-efficacy, and unprotected sex intentions. Results Path analysis revealed that CSA was indirectly associated with increased unprotected sex intentions through increased ASA severity, increased trauma-related symptoms, increased emotional numbing, and decreased unprotected sex refusal self-efficacy. Further, alcohol intoxication was indirectly associated with increased unprotected sex intentions through increased emotional numbing and decreased unprotected sex refusal self-efficacy. Conclusions Emotional numbing, but not dissociation, was associated with unprotected sex intentions and may be one potential target for interventions aimed at reducing HIV/STI-related risk among women with a history of sexual trauma. PMID:28239507

  9. Efficacy of keishibukuryogan, a traditional Japanese herbal medicine, in treating cold sensation and numbness after stroke: clinical improvement and skin temperature normalization in 22 stroke patients.

    Science.gov (United States)

    Fujita, Keishi; Yamamoto, Tetsuya; Kamezaki, Takao; Matsumura, Akira

    2010-01-01

    Cold sensation and numbness have been reported as post-stroke sensory sequelae attributable to distal axonopathy, which is caused by chronic ischemia of diseased limbs resulting from dysfunction of vasomotor regulatory systems. Keishibukuryogan is a traditional herbal medicine used to treat symptoms of peripheral ischemia such as cold extremities. This study investigated clinical improvement and skin temperature in peripheral ischemia patients to determine the efficacy of keishibukuryogan in alleviating post-stroke cold sensation and numbness. Twenty-two stroke patients with cold sensation and/or numbness were enrolled in this study. Subjective cold sensation and numbness, evaluated using the visual analogue scale, were found in 21 and 31 limbs, respectively. The skin temperature of diseased and healthy limbs was recorded. We observed all patients for 4 weeks and 17 patients for 8 weeks after administration of keishibukuryogan. The skin temperature of diseased limbs was significantly higher than baseline at 4 weeks and 8 weeks, whereas that of healthy limbs did not change significantly. Cold sensation and numbness were significantly improved at 4 weeks and 8 weeks compared to baseline. Keishibukuryogan administration resulted in warming of diseased limbs and improved cold sensation and numbness, probably by increasing peripheral blood flow.

  10. Cutaneous and mucosal pain syndromes

    Directory of Open Access Journals (Sweden)

    Siddappa K

    2002-01-01

    Full Text Available The cutaneous and mucosal pain syndromes are characterized by pain, burning sensation, numbness or paraesthesia of a particular part of the skin or mucosal surface without any visible signs. They are usually sensory disorders, sometimes with a great deal of psychologic overlay. In this article various conditions have been listed and are described. The possible causative mechanisms are discussed when they are applicable and the outline of their management is described.

  11. Chin remodeling in a patient with bimaxillary protrusion and open bite by using mini-implants for temporary anchorage.

    Science.gov (United States)

    Jiang, Chunmiao; Liu, Yinghong; Cheng, Qian; He, Wei; Fang, Shanbao; Lan, Tingting; Wang, Jun

    2018-03-01

    Patients with bimaxillary protrusion may have an unattractive profile with a retruded chin contour. Correction of the severely protrusive anterior alveolar bone and teeth combined with a moderate open bite without orthognathic surgery can be challenging. This case report describes the orthodontic treatment of a woman with severe bimaxillary protrusion and a moderate open bite. Excellent chin morphology and facial appearance were obtained with the extraction of 4 first premolars and 4 third molars, and total distalization of both arches with 4 mini-implants, one in each quadrant between the second premolar and the first molar. The total treatment time was 30 months. Copyright © 2017 American Association of Orthodontists. Published by Elsevier Inc. All rights reserved.

  12. All-trans-configuration in Zanthoxylum alkylamides swaps the tingling with a numbing sensation and diminishes salivation.

    Science.gov (United States)

    Bader, Matthias; Stark, Timo D; Dawid, Corinna; Lösch, Sofie; Hofmann, Thomas

    2014-03-26

    The methanol soluble prepared from a supercritical fluid extract of Szechuan pepper (Zanthoxylum piperitum) was screened for its key tingling and numbing chemosensates by application of taste dilution analysis. Further separation of fractions perceived with the highest sensory impact, followed by LC-TOF-MS, LC-MS, and 1D/2D NMR experiments, led to the structure determination of the known alkylamides hydroxy-γ-sanshool (1), hydroxy-α-sanshool (2), hydroxy-β-sanshool (3), bungeanool (4), isobungeanool (5), and hydroxy-γ-isosanshool (6), as well as hydroxy-ε-sanshool (7), the structure of which has not yet been confirmed by NMR, and hydroxy-ζ-sanshool (8), which has not been previously reported in the literature. Psychophysical half-tongue experiments using filter paper rectangles (1 × 2 cm) as the vehicle revealed amides 1, 2, 4, 5, 7, and 8, showing at least one cis-configured double bond, elicited the well-known tingling and paresthetic orosensation above threshold levels of 3.5-8.3 nmol/cm(2). In contrast, the all-trans-configured amides 3 and 6 induced a numbing and anesthetic sensation above thresholds of 3.9 and 7.1 nmol/cm(2), respectively. Interestingly, the mono-cis-configured major amide 2 was found to induce massive salivation, whereas the all-trans-configuration of 3 did not.

  13. Reconstruction of the lower vermilion with a musculomucosal flap from the upper lip in the repair of extensive lower lip and chin defects.

    Science.gov (United States)

    Rong, Li; Lan, Shi-Jie; Zhang, Duo; Wang, Wang-Shu; Liu, Chao; Peng, Wei-Hai

    2014-09-01

    In the repair of extensive lower lip and chin defects, the reconstruction of vermilion at the same time is a great challenge to plastic surgeons. We describe a novel method for the reconstruction of lower vermilion with musculomucosal flap from the upper lip in the repair of extensive lower lip and chin defects. Two patients underwent extensive lower lip and chin reconstruction together with vermilion reconstruction. This technique used 3 basic components: musculomucosal flap from the upper lip, buccal mucosal advancement flap, and cutaneous rotational flap from the neck. All the flaps survived without significant complications. Labial function in the motions of expression and speaking was maintained. The patients could basically close their mouths completely, and there were no drooping or small-mouth deformities postoperatively. Functional and cosmetically acceptable lower-lip and chin reconstructions in both patients were achieved.

  14. Water Quality Degradation and Management Strategies for Swine and Rice Farming Wastewater in the Tha Chin River Basin

    Directory of Open Access Journals (Sweden)

    Abigail Henderson

    2017-11-01

    Full Text Available Water quality in the Tha Chin River regularly exceeds biological oxygen demand (BOD standards of Thailand’s Enhancement and Conservation of National Environmental Quality Act. This study quantified the BOD loading from rice cultivation and swine farming to the Tha Chin River using effluent data and procedures from the Pollution Control Department (PCD, geospatial land-use maps from the Land Development Department, and water quality data from the Ministry of Natural Resources and the Environment. It was determined that the BOD loading was 12 tons/day from swine farming in 2015 and 52 tons/day, on average, from rice farming between 2002 and 2011. Technology-specific, community-scale wastewater management strategies were recommended for both industries: feasibility studies revealed 66 potential sites for constructed wetland implementation and 7 subdistricts suitable for biogas network pipelines. It was determined that if these projects are implemented in conjunction, the BOD would be reduced by 6% (0.3 mg/L in the entire river or 11% (0.5 mg/L at the three water quality monitoring stations proximate to swine farms. These reductions would have a substantial effect on the water quality of the Tha Chin River, and governmental agencies such as the PCD should strongly consider subsidization and implementation of these projects.

  15. Health and human rights in Chin State, Western Burma: a population-based assessment using multistaged household cluster sampling.

    Science.gov (United States)

    Sollom, Richard; Richards, Adam K; Parmar, Parveen; Mullany, Luke C; Lian, Salai Bawi; Iacopino, Vincent; Beyrer, Chris

    2011-02-08

    The Chin State of Burma (also known as Myanmar) is an isolated ethnic minority area with poor health outcomes and reports of food insecurity and human rights violations. We report on a population-based assessment of health and human rights in Chin State. We sought to quantify reported human rights violations in Chin State and associations between these reported violations and health status at the household level. Multistaged household cluster sampling was done. Heads of household were interviewed on demographics, access to health care, health status, food insecurity, forced displacement, forced labor, and other human rights violations during the preceding 12 months. Ratios of the prevalence of household hunger comparing exposed and unexposed to each reported violation were estimated using binomial regression, and 95% confidence intervals (CIs) were constructed. Multivariate models were done to adjust for possible confounders. Overall, 91.9% of households (95% CI 89.7%-94.1%) reported forced labor in the past 12 months. Forty-three percent of households met FANTA-2 (Food and Nutrition Technical Assistance II project) definitions for moderate to severe household hunger. Common violations reported were food theft, livestock theft or killing, forced displacement, beatings and torture, detentions, disappearances, and religious and ethnic persecution. Self reporting of multiple rights abuses was independently associated with household hunger. Our findings indicate widespread self-reports of human rights violations. The nature and extent of these violations may warrant investigation by the United Nations or International Criminal Court. Please see later in the article for the Editors' Summary.

  16. Frank-Ter Haar Syndrome.

    Science.gov (United States)

    Saeed, Muhammad; Shair, Qamar Ali; Saleem, Shah Masabat

    2011-04-01

    Frank-Ter Haar Syndrome (FTHS) is a rare hereditary inherited disorder with many abnormalities. The main clinical features are brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, macrocornea with or without glaucoma, full cheeks, small chin, congenital heart defects, kyphoscoliosis, skeletal dysplasia, developmental delay, coccygeal skin folds and flexion deformity of the fingers. This case report describes Frank-Ter Haar syndrome in a 4 months old girl suffering from club foot, dysmorphism, prominent coccyx with skin fold, atrial septal defect, patent ductus asteriosus and megalocornea.

  17. Health and Human Rights in Chin State, Western Burma: A Population-Based Assessment Using Multistaged Household Cluster Sampling

    Science.gov (United States)

    Sollom, Richard; Richards, Adam K.; Parmar, Parveen; Mullany, Luke C.; Lian, Salai Bawi; Iacopino, Vincent; Beyrer, Chris

    2011-01-01

    Background The Chin State of Burma (also known as Myanmar) is an isolated ethnic minority area with poor health outcomes and reports of food insecurity and human rights violations. We report on a population-based assessment of health and human rights in Chin State. We sought to quantify reported human rights violations in Chin State and associations between these reported violations and health status at the household level. Methods and Findings Multistaged household cluster sampling was done. Heads of household were interviewed on demographics, access to health care, health status, food insecurity, forced displacement, forced labor, and other human rights violations during the preceding 12 months. Ratios of the prevalence of household hunger comparing exposed and unexposed to each reported violation were estimated using binomial regression, and 95% confidence intervals (CIs) were constructed. Multivariate models were done to adjust for possible confounders. Overall, 91.9% of households (95% CI 89.7%–94.1%) reported forced labor in the past 12 months. Forty-three percent of households met FANTA-2 (Food and Nutrition Technical Assistance II project) definitions for moderate to severe household hunger. Common violations reported were food theft, livestock theft or killing, forced displacement, beatings and torture, detentions, disappearances, and religious and ethnic persecution. Self reporting of multiple rights abuses was independently associated with household hunger. Conclusions Our findings indicate widespread self-reports of human rights violations. The nature and extent of these violations may warrant investigation by the United Nations or International Criminal Court. Please see later in the article for the Editors' Summary PMID:21346799

  18. Health and human rights in Chin State, Western Burma: a population-based assessment using multistaged household cluster sampling.

    Directory of Open Access Journals (Sweden)

    Richard Sollom

    Full Text Available BACKGROUND: The Chin State of Burma (also known as Myanmar is an isolated ethnic minority area with poor health outcomes and reports of food insecurity and human rights violations. We report on a population-based assessment of health and human rights in Chin State. We sought to quantify reported human rights violations in Chin State and associations between these reported violations and health status at the household level. METHODS AND FINDINGS: Multistaged household cluster sampling was done. Heads of household were interviewed on demographics, access to health care, health status, food insecurity, forced displacement, forced labor, and other human rights violations during the preceding 12 months. Ratios of the prevalence of household hunger comparing exposed and unexposed to each reported violation were estimated using binomial regression, and 95% confidence intervals (CIs were constructed. Multivariate models were done to adjust for possible confounders. Overall, 91.9% of households (95% CI 89.7%-94.1% reported forced labor in the past 12 months. Forty-three percent of households met FANTA-2 (Food and Nutrition Technical Assistance II project definitions for moderate to severe household hunger. Common violations reported were food theft, livestock theft or killing, forced displacement, beatings and torture, detentions, disappearances, and religious and ethnic persecution. Self reporting of multiple rights abuses was independently associated with household hunger. CONCLUSIONS: Our findings indicate widespread self-reports of human rights violations. The nature and extent of these violations may warrant investigation by the United Nations or International Criminal Court. Please see later in the article for the Editors' Summary.

  19. 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

    OpenAIRE

    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...

  20. Die Kunst der Projektion. Romantik und Dekonstruktion in den Filmen André Téchinés

    OpenAIRE

    Merlin, Dieter

    2012-01-01

    Thema der vorliegenden Untersuchung sind die Dekonstruktionsmechanismen, mit deren Hilfe metaphysisch begründete Liebeskonzeptionen in den Filmen des französischen Post-Nouvelle-Vague-Regisseurs André Téchiné (geb. 1943) einer kinematographischen Kritik unterworfen werden. Diese Mechanismen werden anhand einer Auswahl von fünf Filmen – HÔTEL DES AMÉRIQUES (1981), LES ROSEAUX SAUVAGES (1994), LES VOLEURS (1996), LOIN (2001) und LES TEMPS QUI CHANGENT (2004) – sowohl unter ästhetisch-formalen a...

  1. An ergonomics prototype of adjustable chin stands aid for visual mechanical inspection at electronic manufacturing-based company in Kuantan, Malaysia

    Science.gov (United States)

    Elias, Nurainaa; Mat Yahya, Nafrizuan

    2018-04-01

    Chin stands aid is a device designed to reduce fatigue on the chin during the Visual Mechanical Inspection (VMI) task for operators in TT Electronic Sdn Bhd, Kuantan, Malaysia. It is also used to reduce cycle time and also improve employee well-being in terms of comfort. In this project, a 3D model of chin stands aid with an ergonomics approach is created using SOLIDWORKS software. Two different concepts were designed and the best one is chosen based on the Pugh concept selection method, concept screening and also concept scoring. After the selection of concepts is done, a prototype of chin stands aid will be developed and a simulation of the prototype is performed. The simulation has been executed by using Workbench ANSYS software as a tool. Stress analysis, deformation analysis, and fatigue analysis have been done to know the strength and lifespan of the product. The prototype also has been tested to know the functionality and also comfortability for the user to use the chin stands aid.

  2. D-cycloserine for treatment of numbing and avoidance in chronic post traumatic stress disorder: A randomized, double blind, clinical trial

    Directory of Open Access Journals (Sweden)

    Abbas Attari

    2014-01-01

    Full Text Available Background: Posttraumatic stress disorder (PTSD tends to follow a chronic and treatment resistant course. Avoidance and numbing are symptoms associated with chronicity and impaired life quality. As D-cycloserine (DCS can facilitate extinction of conditioned fear, we aimed to investigate the efficacy and tolerability of DCS for the treatment of numbing and avoidance in chronic PTSD. Materials and Methods: This was an 11-week, double-blind, cross-over trial conducted in 2012 and 2013, in out-patient University psychiatry clinics. The studied population was selected randomly among outpatients with chronic combat-related PTSD (based on DSM-IV-TR criteria for chronic PTSD, who were males over 18 and <65 years of age (n = 319. Seventy six eligible patients were randomly assigned to two groups. Patients entered a 1-week run-in period. The groups received either an add-on treatment of DCS (50 mg daily, or placebo (4-week. After a 2-week washout, the groups received cross-over treatments (4-week. Clinical, paraclinical assessments, and clinician administered PTSD scale (CAPS were performed at baseline, and at the end of the 1 st , 5 th , and 11 th week. Side-effects were also evaluated. The overall number of avoidance and numbing symptoms, symptom frequency, and symptom intensity were measured separately. Results: Neither frequency nor number of symptoms was significantly influenced. However, DCS treatment demonstrates a significant decrease in intensity of avoidance/numbing symptoms, and improvement in function (mean [standard error] = −4.2 [1.5], P = 0.008. Side-effects were not statistically remarkable. Conclusion: D-cycloserine can help as an adjunctive treatment to alleviate numbing and avoidance in combat-related chronic PTSD.

  3. Deletion of NSD1 exon 14 in Sotos syndrome: first description

    Indian Academy of Sciences (India)

    examination revealed macrocephaly, broad forehead, high hairline, narrow long face, hypertelorism with down slant- ing palpebral fissures, large ears and pointed chin (figure 1). Cryptorchidism was present on left side. A severe mental retardation was noted. Clinical features supported the suspi- cion of Sotos syndrome ...

  4. The origins of white-chinned petrels killed by long-line fisheries off South Africa and New Zealand

    Directory of Open Access Journals (Sweden)

    N.M.S. Mareile Techow

    2016-06-01

    Full Text Available The white-chinned petrel (Procellaria aequinoctialis is the seabird species most frequently killed by fisheries in the Southern Ocean and is listed by the International Union for the Conservation of Nature and Natural Resources as globally vulnerable. It breeds around the sub-Antarctic, but genetic data identified two subspecies: P. a. aequinoctialis from islands in the Atlantic and Indian Oceans and P. a. steadi from the New Zealand sub-Antarctic islands. We identify the region of origin of birds killed by two long-line fisheries based on differences in the mitochondrial gene cytochrome b. All 113 birds killed off South Africa had the haplotype of P. a. aequinoctialis, whereas all the 60 birds from New Zealand had P. a. steadi haplotypes. The two subspecies of white-chinned petrels thus appear to disperse to different regions irrespective of their age, which accords with the tracking data of adult birds. Our finding has significant implications for managing the bycatch of this species by regional fisheries.

  5. Self-Reported Ache, Pain, or Numbness in Feet and Use of Computers amongst Working-Age Finns

    Directory of Open Access Journals (Sweden)

    Leena Korpinen

    2016-11-01

    Full Text Available The use of the computers and other technical devices has increased. The aim of our work was to study the possible relation between self-reported foot symptoms and use of computers and cell phones using a questionnaire. The study was carried out as a cross-sectional study by posting a questionnaire to 15,000 working-age Finns. A total of 6121 responded, and 7.1% of respondents reported that they very often experienced pain, numbness, and aches in the feet. They also often experienced other symptoms: 52.3% had symptoms in the neck, 53.5% in had problems in the hip and lower back, and 14.6% often had sleeping disorders/disturbances. Only 11.2% of the respondents thought that their symptoms were connected to the use of desktop computers. We found that persons with symptoms in the feet quite often, or more often, had additional physical and mental symptoms. In future studies, it is important to take into account that the persons with symptoms in the feet may very often have other symptoms, and the use of computers can influence these symptoms.

  6. The prevalence of post-abortion syndrome in patients presenting at ...

    African Journals Online (AJOL)

    Post-abortion syndrome is a type of post-traumatic disorder and is characterised by a stressor (the abortion), the event being re-experienced, avoidance and/or numbing of general responsiveness, and physical symptoms such as insomnia and depression. The question was asked whether the patients at Kalafong Hospital ...

  7. Ingestion of marine debris by the White-chinned Petrel (Procellaria aequinoctialis): Is it increasing over time off southern Brazil?

    Science.gov (United States)

    Petry, Maria V; Benemann, Victória R F

    2017-04-15

    Seabirds are amongst the most affected organisms by plastic pollution worldwide. Ingestion of marine debris has been reported in at least 122 species, and owing to the increasing global production and persistence of these anthropogenic materials within the marine environment, it is expected to be a growing problem to the marine fauna. Here we report evidence of an increasing frequency in marine debris ingestion and a decrease in the amount of plastic pellets ingested by White-chinned Petrels attending south Brazilian waters during the last three decades. Future studies comprising large temporal scales and large sample sizes are needed to better understand the trends of marine debris ingestion by seabirds. We expect our findings to highlight the need for prevention policies and mitigation measures to reduce the amount of solid litter in the oceans. Copyright © 2017 Elsevier Ltd. All rights reserved.

  8. Chinese Circulations. Capital, Commodities, and Networks in Southeast Asia, Eric Tagliacozzo & Wen-Chin Chang (éds

    Directory of Open Access Journals (Sweden)

    Jean Baffie

    2012-09-01

    Full Text Available Cet ouvrage est une contribution majeure à l’étude des activités commerciales des Chinois d’Asie du Sud-Est, particulièrement du commerce entre les Chinois installés en Asie du Sud-Est et la Chine. Il est publié sous la direction d’un historien de l’université de Cornell aux États-Unis, Eric Tagliacozzo, spécialiste de l’Asie du Sud-Est musulmane, de l’Insulinde, principalement, et de Wen-Chin Chang, anthropologue au CAPAS de l’Academia Sinica et spécialiste des Chinois yunnanais de la Thaïla...

  9. Does Liposomal Bupivacaine (Exparel) Significantly Reduce Postoperative Pain/Numbness in Symptomatic Teeth with a Diagnosis of Necrosis? A Prospective, Randomized, Double-blind Trial.

    Science.gov (United States)

    Glenn, Brandon; Drum, Melissa; Reader, Al; Fowler, Sara; Nusstein, John; Beck, Mike

    2016-09-01

    Medical studies have shown some potential for infiltrations of liposomal bupivacaine (Exparel; Pacira Pharmaceuticals, San Diego, CA), a slow-release bupivacaine solution, to extend postoperative benefits of numbness/pain relief for up to several days. Because the Food and Drug Administration has approved Exparel only for infiltrations, we wanted to evaluate if it would be effective as an infiltration to control postoperative pain. The purpose of this study was to compare an infiltration of bupivacaine with liposomal bupivacaine for postoperative numbness and pain in symptomatic patients diagnosed with pulpal necrosis experiencing moderate to severe preoperative pain. One hundred patients randomly received a 4.0-mL buccal infiltration of either bupivacaine or liposomal bupivacaine after endodontic debridement. For postoperative pain, patients were given ibuprofen/acetaminophen, and they could receive narcotic pain medication as an escape. Patients recorded their level of numbness, pain, and medication use the night of the appointment and over the next 5 days. Success was defined as no or mild postoperative pain and no narcotic use. The success rate was 29% for the liposomal group and 22% for the bupivacaine group, with no significant difference (P = .4684) between the groups. Liposomal bupivacaine had some effect on soft tissue numbness, pain, and use of non-narcotic medications, but it was not clinically significant. There was no significant difference in the need for escape medication. For symptomatic patients diagnosed with pulpal necrosis experiencing moderate to severe preoperative pain, a 4.0-mL infiltration of liposomal bupivacaine did not result in a statistically significant increase in postoperative success compared with an infiltration of 4.0 mL bupivacaine. Copyright © 2016 American Association of Endodontists. Published by Elsevier Inc. All rights reserved.

  10. Black-chinned hummingbird nest-site selection and nest survival in response to fuel reduction in a southwestern riparian forest

    Science.gov (United States)

    D. Max Smith; Deborah M. Finch; David L. Hawksworth

    2009-01-01

    Despite widespread efforts to avert wildfire by reducing the density of flammable vegetation, little is known about the effects of this practice on the reproductive biology of forest birds. We examined nest-site selection and nest survival of the Black-chinned Hummingbird (Archilochus alexandri) in New Mexico riparian forests treated or not for fuel...

  11. Tales of Recombinant Femininity: "The Reincarnation of Golden Lotus," the "Chin P'ing Mei," and the Politics of Melodrama in Hong Kong.

    Science.gov (United States)

    Fore, Steve

    1993-01-01

    Examines the film "The Reincarnation of Golden Lotus" and the text upon which it is loosely based, the "Chin P'ing Mei," and the relationship between it and modern Chinese culture. States that the film's screenplay is much less an adaptation of the source novel than it is a female-centered reworking of a particular narrative…

  12. Maxillary, mandibular, and chin advancement: treatment planning based on airway anatomy in obstructive sleep apnea.

    Science.gov (United States)

    Schendel, Stephen; Powell, Nelson; Jacobson, Richard

    2011-03-01

    Surgical correction of obstructive sleep apnea (OSA) syndrome involves understanding a number of parameters, of which the 3-dimensional airway anatomy is important. Visualization of the upper airway based on cone beam computed tomography scans and automated computer analysis is an aid in understanding normal and abnormal airway conditions and their response to surgery. The goal of surgical treatment of OSA syndrome is to enlarge the velo-oropharyngeal airway by anterior/lateral displacement of the soft tissues and musculature by maxillary, mandibular, and possibly, genioglossus advancement. Knowledge of the specific airway obstruction and characteristics based on 3-dimensional studies permits a directed surgical treatment plan that can successfully address the area or areas of airway obstruction. The end occlusal result can be improved when orthodontic treatment is combined with the surgical plan. The individual with OSA, though, is more complicated than the usual orthognathic patient, and both the medical condition and treatment length need to be judiciously managed when OSA and associated conditions are present. The perioperative management of the patient with OSA is more complex and the margin for error is reduced, and this needs to be taken into consideration and the care altered as indicated. Copyright © 2011 American Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc. All rights reserved.

  13. Produção do taro 'Chinês', em cultivo solteiro e consorciado com chicória Yield of 'Chinês' taro in monocrop system and intercropped with chicory

    Directory of Open Access Journals (Sweden)

    Néstor Antonio Heredia Zárate

    2007-10-01

    Full Text Available Objetiva-se com este trabalho avaliar a produtividade e a renda bruta do taro 'Chinês', conduzido em cultivo solteiro ou consorciado com chicória 'Escarola Lisa', nas condições ambientes de Dourados-MS. Os tratamentos foram arranjados no delineamento experimental de blocos casualizados, com cinco repetições. A colheita da chicória foi aos 97 dias após a semeadura e a do taro aos 203 dias. O consórcio foi avaliado pela razão de área equivalente (RAE e sua validação pela renda bruta. As plantas de taro e de chicória foram influenciadas significativamente pela consorciação, exceto para altura das plantas de chicória que foram semelhantes. O cultivo solteiro proporcionou maiores produções de taro (9,90; 3,96; 10,42 e 9,03 t ha-1 de folhas, rizomas-mãe, rizomas-filho comerciais e rizomas-filho não comerciais, respectivamente e diâmetro (19,22 cm e número (50,69 mil ha-1 de cabeças comerciais de chicória. A RAE para o consórcio taro-chicória foi de 0,92 e, por isso, o consórcio foi considerado como não efetivo.The present work had the aim of evaluating the yield and gross income of 'Chinês' taro that was carried out in monocrop and intercropped system with 'Escarola Lisa' chicory in environment conditions in Dourados-MS. Treatments were arranged in a randomized experimental block design with five replications. Chicory harvest was done at 97 days after sowing and taro harvest at 203 days. Intercropping was evaluated by Land Equivalent Ratio (LER and its validation was done determining gross income. Plants of taro and chicory were significantly influenced by means of cultivation, except to height of chicory plants that were similar. Monocrop system induced the highest yields of taro (9.90; 3.96; 10.42 and 9.03 t ha-1 of leaves, corms, commercial and non-commercial cormels, respectively and greatest diameter (19.22 cm and number (50.69 thousand ha-1 of commercial heads of chicory. LER for taro/chicory intercrop was 0.92 and

  14. Effect of combined mouth closure and chin lift on upper airway dimensions during routine magnetic resonance imaging in pediatric patients sedated with propofol.

    Science.gov (United States)

    Reber, A; Wetzel, S G; Schnabel, K; Bongartz, G; Frei, F J

    1999-06-01

    In pediatric patients, obstruction of the upper airway is a common problem during general anesthesia. Chin lift is a commonly used technique to improve upper airway patency. However, little is known about the mechanism underlying this technique. The authors studied the effect of the chin lift maneuver on airway dimensions in 10 spontaneously breathing children (aged 2-11 yr) sedated with propofol during routine magnetic resonance imaging. The minimal anteroposterior and corresponding transverse diameters of the pharynx were determined at the levels of the soft palate, dorsum of the tongue, and tip of the epiglottis before and during the chin lift maneuver. Additionally, cross-sectional areas were calculated at these sites, including tracheal areas 2 cm below the glottic level. Minimal anteroposterior diameter of the pharynx increased significantly during chin lift at all three levels in all patients. The diameters of the soft palate, tongue, and epiglottis increased from 6.7+/-2.8 mm (SD) to 9.9+/-3.6 mm, from 9.6+/-3.6 mm to 16.5+/-3.1 mm, and from 4.6+/-2.5 mm to 13.1+/-2.8 mm, respectively. The corresponding transverse diameter of the pharynx also increased significantly at all three levels in all patients but without significant predominance. The diameters at the levels of the soft palate, tongue, and epiglottis increased from 15.8+/-5.1 mm to 22.8+/-4.5 mm, from 13.5+/-4.9 mm to 18.7+/-5.3 mm, and from 17.2+/-3.9 mm to 21.2+/-3.7 mm, respectively. Cross-sectional pharyngeal areas increased significantly at all levels (soft palate, from 0.88+/-0.58 cm2 to 1.79+/-0.82 cm2; tongue, from 1.15+/-0.45 cm2 to 2.99+/-1.30 cm2; epiglottis, from 1.17+/-0.70 cm2 to 3.04+/-0.99 cm2), including the subglottic level (from 0.44+/-0.15 cm2 to 0.50+/-0.14 cm2). This study shows that all children had a preserved upper airway at all measured sites during propofol sedation. Chin lift caused a widening of the entire pharyngeal airway that was most pronounced between the tip of the

  15. Thoracic outlet syndrome.

    Science.gov (United States)

    Kuhn, John E; Lebus V, George F; Bible, Jesse E

    2015-04-01

    Thoracic outlet syndrome is a well-described disorder caused by thoracic outlet compression of the brachial plexus and/or the subclavian vessels. Neurogenic thoracic outlet syndrome is the most common manifestation, presenting with pain, numbness, tingling, weakness, and vasomotor changes of the upper extremity. Vascular complications of thoracic outlet syndrome are uncommon and include thromboembolic phenomena and swelling. The clinical presentation is highly variable, and no reproducible study exists to confirm the diagnosis; instead, the diagnosis is based on a physician's judgment after a meticulous history and physical examination. Both nonsurgical and surgical treatment methods are available for thoracic outlet syndrome. Whereas nonsurgical management appears to be effective in some persons, surgical treatment has been shown to provide predictable long-term cure rates for carefully selected patients. In addition, physicians who do not regularly treat patients with thoracic outlet syndrome may not have an accurate view of this disorder, its treatment, or the possible success rate of treatment. Copyright 2015 by the American Academy of Orthopaedic Surgeons.

  16. 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.

    Science.gov (United States)

    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.

  17. Bimaxillary protrusion with an atrophic alveolar defect: orthodontics, autogenous chin-block graft, soft tissue augmentation, and an implant.

    Science.gov (United States)

    Chiu, Grace S C; Chang, Chris H N; Roberts, W Eugene

    2015-01-01

    Bimaxillary protrusion in a 28-year-old woman was complicated by multiple missing, restoratively compromised, or hopeless teeth. The maxillary right central incisor had a history of avulsion and replantation that subsequently evolved into generalized external root resorption with Class III mobility and severe loss of the supporting periodontium. This complex malocclusion had a discrepancy index of 21, and 8 additional points were scored for the atrophic dental implant site (maxillary right central incisor). The comprehensive treatment plan included extraction of 4 teeth (both maxillary first premolars, the maxillary right central incisor, and the mandibular right first molar), orthodontic closure of all spaces except for the future implant site (maxillary right central incisor), augmentation of the alveolar defect with an autogenous chin-block graft, enhancement of the gingival biotype with a connective tissue graft, and an implant-supported prosthesis. Orthodontists must understand the limitations of bone grafts. Augmented alveolar defects are slow to completely turn over to living bone, so they are usually good sites for implants but respond poorly to orthodontic space closure. However, postsurgical orthodontic treatment is often indicated to optimally finish the esthetic zone before placing the final prosthesis. The latter was effectively performed for this patient, resulting in a total treatment time of about 36 months for comprehensive interdisciplinary care. An excellent functional and esthetic result was achieved. Copyright © 2015 American Association of Orthodontists. Published by Elsevier Inc. All rights reserved.

  18. Access of Chin and Rohingya women refugees and asylum seekers from Burma to maternal health services in the Klang Valley, Malaysia

    OpenAIRE

    Verghis, Sharuna Elizabeth

    2017-01-01

    Barriers to accessing maternal health care are linked to adverse maternal health outcomes. Malaysia’s success in terms of maternal health outcomes is attributed to accessibility to an integrated package of maternal and child health services that especially reached poor and rural residents. Yet urban refugees in Malaysia face many barriers in accessing health care because of insecure legal status and several protection challenges. This study aimed to assess the access of Chin and Rohingya re...

  19. Cheiro-oral syndrome

    Directory of Open Access Journals (Sweden)

    Xiao-yu DONG

    2015-12-01

    Full Text Available The clinical and imaging features of 11 cheiro-oral syndrome (COS cases were retrospectively analyzed. All patients were unilaterally involved, including 10 cases of acute lacunar cerebral infarction, and one case of cerebral hemorrhage. Thalamic ischemic stroke (5 cases was most common, and secondly were parietal lobe infarction (3 cases and brainstem infarction (3 cases. Three of 11 cases developed progressive stroke during treatment. All patients were followed up for 3 months after discharge, 2 cases still presented ipsilateral fingertips and perioral numbness, one progressive case left hemi-dysesthesia. Damage of nerve conduction from medulla oblongata to parietal lobe can induce COS. Although the prognosis of COS is good, progressive risk can be seen in some cases. DOI: 10.3969/j.issn.1672-6731.2015.12.015

  20. The bantam microRNA acts through Numb to exert cell growth control and feedback regulation of Notch in tumor-forming stem cells in the Drosophila brain.

    Science.gov (United States)

    Wu, Yen-Chi; Lee, Kyu-Sun; Song, Yan; Gehrke, Stephan; Lu, Bingwei

    2017-05-01

    Notch (N) signaling is central to the self-renewal of neural stem cells (NSCs) and other tissue stem cells. Its deregulation compromises tissue homeostasis and contributes to tumorigenesis and other diseases. How N regulates stem cell behavior in health and disease is not well understood. Here we show that N regulates bantam (ban) microRNA to impact cell growth, a process key to NSC maintenance and particularly relied upon by tumor-forming cancer stem cells. Notch signaling directly regulates ban expression at the transcriptional level, and ban in turn feedback regulates N activity through negative regulation of the Notch inhibitor Numb. This feedback regulatory mechanism helps maintain the robustness of N signaling activity and NSC fate. Moreover, we show that a Numb-Myc axis mediates the effects of ban on nucleolar and cellular growth independently or downstream of N. Our results highlight intricate transcriptional as well as translational control mechanisms and feedback regulation in the N signaling network, with important implications for NSC biology and cancer biology.

  1. Comparative Analysis of Reproductive Traits in Black-Chinned Tilapia Females from Various Coastal Marine, Estuarine and Freshwater Ecosystems

    Science.gov (United States)

    Kantoussan, Justin; Ndiaye, Papa; Thiaw, Omar Thiom; Albaret, Jean-Jacques

    2012-01-01

    The black-chinned tilapia Sarotherodon melanotheron is a marine teleost characterised by an extreme euryhalinity. However, beyond a certain threshold at very high salinity, the species exhibits impaired growth and precocious reproduction. In this study, the relationships between reproductive parameters, environmental salinity and condition factor were investigated in wild populations of this species that were sampled in two consecutive years (2003 and 2004) from three locations in Senegal with different salinities: Guiers lake (freshwater, 0 psu), Hann bay (seawater, 37 psu) and Saloum estuary (hypersaline water, 66–127 psu). The highest absolute fecundity and spawning weight were recorded in seawater by comparison to either freshwater or hypersaline water whereas the poorest condition factors were observed in the most saline sampling site. These results reflect higher resource allocation to the reproduction due to the lowest costs of adaptation to salinity in seawater (the natural environment of this species) rather than differences in food resources at sites and/or efficiency at foraging and prey availability. Fecundities, oocyte size as well as spawning weight were consistent from year to year. However, the relative fecundity in the Saloum estuary varied significantly between the dry and rainy raisons with higher values in the wet season, which seems to reflect seasonal variations in environmental salinity. Such a reproductive tactic of producing large amounts of eggs in the rainy season when the salinity in the estuary was lower, would give the fry a better chance at survival and therefore assures a high larval recruitment. An inverse correlation was found between relative fecundity and oocyte size at the two extreme salinity locations, indicating that S. melanotheron has different reproductive strategies in these ecosystems. The adaptive significance of these two reproductive modes is discussed in regard to the heavy osmotic constraint imposed by extreme

  2. Clinical findings and normative ocular data for free-living Anna's (Calypte anna) and Black-chinned (Archilochus alexandri) Hummingbirds.

    Science.gov (United States)

    Moore, Bret A; Maggs, David J; Kim, Soohyun; Motta, Monica J; Bandivadekar, Ruta; Tell, Lisa A; Murphy, Christopher J

    2018-02-20

    To estimate the prevalence of ocular disease and obtain normative ocular data for free-living hummingbirds. Two hundred and sixty-three free-living, adult Hummingbirds from coastal and inland central California were studied, including Anna's (Calypte anna, n = 186) and Black-chinned (Archilochus alexandri; n = 77) hummingbirds. Slit lamp biomicroscopy and indirect ophthalmoscopy were performed on all individuals. Rebound tonometry, measurement of horizontal palpebral fissure length, and streak retinoscopy were performed on select individuals. Five conscious Anna's Hummingbirds underwent ocular imaging including fundus photography, digital slit lamp photography, and anterior segment and retinal optical coherence tomography. The prevalence of ocular disease in this population was 2.28%. Ocular imaging revealed a thin cornea, shallow anterior chamber, large lens, and a single central, deep convexiclivate fovea. Mean ± SD intraocular pressure was 11.21 ± 2.23 mm Hg. Mean ± SD eyelid length was 2.59 ± 0.19 mm. All eyes were emmetropic or mildly hyperopic with a mean (range) ± SD refractive error of +0.32 (-0.25 to +1) ± 0.33 diopters. Consistent with previous reports, these data suggest that hummingbirds have visual characteristics found in predatory and prey species, as well as a low prevalence of spontaneous ocular disease. This work provides a set of reference values and clinical findings that can be used in the future research on hummingbird vision and ocular disease. It also provides representative diagnostic images of normal birds and demonstrates that advanced ocular imaging can be performed on manually restrained hummingbirds without pharmacologic dilation. © 2018 American College of Veterinary Ophthalmologists.

  3. Rare presentation of AICA syndrome.

    Science.gov (United States)

    Shabbir, Syed H; Nadeem, Faryal; Labovitz, Daniel

    2018-01-23

    We report a rare presentation of an anterior inferior cerebellar artery (AICA) infarct in a 74-year-old woman with acute-onset nausea, vomiting, vertigo and gait instability long before the full onset of symptoms and a negative MRI on admission. Over the next several days the patient developed left facial weakness, numbness, hypoacusis, and limb and gait ataxia, and was found to have acute infarcts of the left pons and cerebellar peduncle consistent with an AICA syndrome. We discuss this rare stepwise presentation in AICA syndrome and possible underlying pathophysiology. Such patients at risk for cerebrovascular disease should undergo a careful history, exam and follow-up, even with negative MRI findings, as their symptoms may precede a serious vascular event. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  4. Progressive bilateral anterior sacral meningoceles in Marfan syndrome

    International Nuclear Information System (INIS)

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

    1995-01-01

    Anterior sacral meningoceles (ASM) in Marfan syndrome are rare. They may cause constipation, urinary frequency, dysmenorrhoea, and low back pain or numbness. This report describes bilateral ASM at the level of S1, S2 and S3 in a woman with Marfan syndrome who was admitted to the gynaecology department for evaluation of left lower abdominal pain. The magnetic resonance appearance of the meningoceles is discussed and compared with findings from transvaginal ultrasound and CT. As MRI offers excellent delineation of spinal and pelvic structures, it is the most useful technique available in establishing the diagnosis and planning the treatment of ASM. (orig.)

  5. Progressive bilateral anterior sacral meningoceles in Marfan syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Scheck, R.J. [Dept. of Radiology, Univ. Muenchen (Germany); Schramm, T. [Dept. of Gynaecology and Obstetrics, 1. Frauenklinik, Univ. Muenchen (Germany); Gloning, K.P. [Dept. of Gynaecology and Obstetrics, 1. Frauenklinik, Univ. Muenchen (Germany); Vogl, T. [Dept. of Radiology, Univ. Muenchen (Germany); Ostermayer, E. [Dept. of Gynaecology and Obstetrics, 1. Frauenklinik, Univ. Muenchen (Germany)

    1995-08-01

    Anterior sacral meningoceles (ASM) in Marfan syndrome are rare. They may cause constipation, urinary frequency, dysmenorrhoea, and low back pain or numbness. This report describes bilateral ASM at the level of S1, S2 and S3 in a woman with Marfan syndrome who was admitted to the gynaecology department for evaluation of left lower abdominal pain. The magnetic resonance appearance of the meningoceles is discussed and compared with findings from transvaginal ultrasound and CT. As MRI offers excellent delineation of spinal and pelvic structures, it is the most useful technique available in establishing the diagnosis and planning the treatment of ASM. (orig.)

  6. Carpal tunnel syndrome in patient with hemihypertrophy: case report.

    Science.gov (United States)

    Shimoe, Takashi; Taniguchi, Yasunori; Yoshida, Munehito

    2013-01-01

    Carpal tunnel syndrome is a common condition; however, it has not been previously reported in patients with hemihypertrophy. A 67-year-old woman with left-sided hemihypertrophy presented with carpal tunnel syndrome of the left hand. Magnetic resonance imaging showed enlargement of the median nerve proximal to the transverse carpal ligament. Carpal tunnel decompression was performed, and pain was immediately relieved by decompression of the carpal tunnel. At the six-month follow-up examination, the patient experienced relief from numbness and improvement in thenar muscle atrophy was noted.

  7. Case report: management of crown-root fracture in lower first primary molar caused by injury to the chin: report of an unusual case.

    Science.gov (United States)

    Hariharan, V S; Rayen, R

    2012-08-01

    Dental traumas are highly prevalent lesions in primary teeth, but crown-root fractures are seldom observed in primary molars. When trauma is sustained to the chin, the posterior primary teeth are at increased risk of trauma. The treatment of fractured teeth can be complicated, sometimes because of difficulties with the final restoration. A 4-year-old girl was referred to a Specialty Dental clinic by a general dental practitioner with complaints of pain in her left mandibular posterior teeth region while biting. History revealed that she had fallen ten days before while playing. Chin laceration was sutured in the trauma centre, but no dental treatment was carried out. She was subsequently discharged. Later, she had pain while biting for which she was referred to the clinic by her general dental practitioner. Extra-oral examination demonstrated a healing laceration on the chin. Radiographic examination showed the presence of an unusual complicated crown-root fracture of the left mandibular first primary molar. Pulpectomy was carried out and the fracture was stabilised with glass ionomer cement and a preformed metal crown was placed. Patient was reviewed after 3, 6 and 12 months both radiographically and clinically. Though radiographically it was found that the obturating material was resorbed completely at the 12 month visit, clinically the patient was asymptomatic until now (after 15 months). The patient is still under review. This case highlights the need for a systematic history and examination in all cases of dental trauma. It also demonstrates that conservative management is possible and not all primary teeth with crown-root fractures need to be extracted.

  8. Mystery behind Non-Healing Wound at Chin Region - Myiasis due to Neglected Trauma - A Case Report with Review of Literature.

    Science.gov (United States)

    Khandelwal, Pulkit; Hajira, Neha

    2016-06-01

    Myiasis is the infestation of human beings with fly larvae which feed on host's living or dead tissue. Diagnosis of this condition is made by the presence of larvae in affected body parts. The standard treatment is the mechanical removal of the maggots from the lesion and management of the general systemic condition. This paper report a case of myiasis at the chin region in a 45-year-old male managed by manual removal of larvae after topical application of turpentine oil, surgical debridement of necrotic tissues and antimicrobial therapy.

  9. Mystery behind Non-Healing Wound at Chin Region - Myiasis due to Neglected Trauma – A Case Report with Review of Literature

    Science.gov (United States)

    Hajira, Neha

    2016-01-01

    Myiasis is the infestation of human beings with fly larvae which feed on host’s living or dead tissue. Diagnosis of this condition is made by the presence of larvae in affected body parts. The standard treatment is the mechanical removal of the maggots from the lesion and management of the general systemic condition. This paper report a case of myiasis at the chin region in a 45-year-old male managed by manual removal of larvae after topical application of turpentine oil, surgical debridement of necrotic tissues and antimicrobial therapy. PMID:27504426

  10. Mystery behind Non-Healing Wound at Chin Region - Myiasis due to Neglected Trauma – A Case Report with Review of Literature

    OpenAIRE

    Khandelwal, Pulkit; Hajira, Neha

    2016-01-01

    Myiasis is the infestation of human beings with fly larvae which feed on host’s living or dead tissue. Diagnosis of this condition is made by the presence of larvae in affected body parts. The standard treatment is the mechanical removal of the maggots from the lesion and management of the general systemic condition. This paper report a case of myiasis at the chin region in a 45-year-old male managed by manual removal of larvae after topical application of turpentine oil, surgical debridement...

  11. Evaluating the Training Effects of Two Swallowing Rehabilitation Therapies Using Surface Electromyography--Chin Tuck Against Resistance (CTAR) Exercise and the Shaker Exercise.

    Science.gov (United States)

    Sze, Wei Ping; Yoon, Wai Lam; Escoffier, Nicolas; Rickard Liow, Susan J

    2016-04-01

    In this study, the efficacy of two dysphagia interventions, the Chin Tuck against Resistance (CTAR) and Shaker exercises, were evaluated based on two principles in exercise science-muscle-specificity and training intensity. Both exercises were developed to strengthen the suprahyoid muscles, whose contractions facilitate the opening of the upper esophageal sphincter, thereby improving bolus transfer. Thirty-nine healthy adults performed two trials of both exercises in counter-balanced order. Surface electromyography (sEMG) recordings were simultaneously collected from suprahyoid muscle group and sternocleidomastoid muscle during the exercises. Converging results using sEMG amplitude analyses suggested that the CTAR was more specific in targeting the suprahyoid muscles than the Shaker exercise. Fatigue analyses on sEMG signals further indicated that the suprahyoid muscle group were equally or significantly fatigued (depending on metric), when participants carried out CTAR compared to the Shaker exercise. Importantly, unlike during Shaker exercise, the sternocleidomastoid muscles were significantly less activated and fatigued during CTAR. Lowering the chin against resistance is therefore sufficiently specific and intense to fatigue the suprahyoid muscles.

  12. Benefit from the Chin-Down Maneuver in the Swallowing Performance and Self-Perception of Parkinson’s Disease Patients

    Directory of Open Access Journals (Sweden)

    Annelise Ayres

    2017-01-01

    Full Text Available Aims. To verify the effectiveness of the maneuver application in swallowing therapy with PD. Materials and Method. We performed an open-label trial, with three groups compounds by PD individuals: the experimental group, control group, and orientation group. The study included PD patients with dysphagia. A cognitive screening, through a questionnaire about depression and quality of life, was conducted. Swallowing assessment was performed through (1 fiberoptic endoscopic evaluation of swallowing (FEES; (2 clinical evaluation and Functional Oral Intake Scale (FOIS; and (3 assessment of the quality life related to swallowing (SWALQOL. A therapeutic program, which consisted of chin-down postural maneuver and orientations on feeding, was applied. Both groups (EG and OG received on-month therapeutic program. Results. A significant improvement in swallowing, evaluated by clinical assessment, was observed in solid (p<0.001 and liquid (p=0.022 consistencies in EG when compared to OG and CG. Patients in EG presented improvement in QoL, with the significant difference in comparison with the other groups, about domain frequency of symptoms (p=0.029 in SWALQOL questionnaire. Conclusion. The postural maneuver chin-down improved swallowing performance and self-perception, but not the laryngeal signs. This trial is registered with registration number NCT02973698.

  13. Unilateral suppression of P/N13′ potential amplitude in young patients with persistent numbness due to cervical monoradiculopathy. A case-control study

    Directory of Open Access Journals (Sweden)

    Christos Moschovos

    Full Text Available Objective: The utility of Dermatomal Somatosensory Evoked Potentials (DSEPs in the diagnostic workup of suspected cervical monoradiculopathy has been limited by significant overlap between measurements obtained from affected versus unaffected roots. In a case-control study, we explored whether, under certain conditions, asymmetry in DSEP parameters may offer significant help in the diagnosis of monoradiculopathy. Methods: DSEPs were obtained bilaterally from patients with persistent (age range 33–55, n = 10 or intermittent (age range 31–55, n = 7 unilateral sensory symptoms of less than one month duration due to MRI-confirmed cervical monoradiculopathy. DSEPs were also obtained bilaterally from aged-matched asymptomatic volunteers (age range 31–54, n = 8 and older asymptomatic volunteers (age range 57–77, n = 8. Amplitude and latency of the P/N13′ potential (negative peak at 13 ms were measured. Results: In all ten patients with persistent symptoms, the P/N13′ amplitude ratio, defined as P/N13′ amplitude on the symptomatic side divided by P/N13′ amplitude on the contralateral asymptomatic side, ranged between 0.0 and 0.50 (unilateral suppression. In all seven patients with intermittent symptoms, P/N13′ amplitude ratios ranged between 0.60 and 1.00. In all age-matched asymptomatic controls, P/N13′ amplitude ratio (side with lower divided by side with higher amplitude was always at least 0.80. Among older asymptomatic subjects, DSEPs had inconsistent characteristics. Conclusions: Cervical monoradiculopathy with persistent numbness in young patients (aged up to 55 years is very strongly associated with unilateral suppression of P/N13′ DSEP amplitude. No significant asymmetry is observed in cases of monoradiculopathy with intermittent numbness. Significance: In young patients with unilateral upper extremity persistent sensory complaints, DSEP amplitude asymmetry, as quantified by the P/N13′ ratio, may offer

  14. Nephrotic syndrome and Guillan-Barré Syndrome: a rare association in child.

    Science.gov (United States)

    Bouyahia, Olfa; Khelifi, Ibtissem; Gharsallah, Lamia; Harzallah, Kais; Mrad, Sonia Mazigh; Ghargah, Tahar; Boukthir, Samir; Azza, Sammoud El Gharbi

    2010-01-01

    Only few cases of nephrotic syndrome associated with Guillain-Barre Syndrome (GBS) have been reported in the adult and pediatric literature. A 3-year-old boy was initially admitted to our hospital following five days of progressive weakness of his extremities, fatigue, right leg pain and numbness. There was no past history of renal or neurological disease. Cerebro-spinal fluid studies showed a protein level of 92 mg/dL and a white cell count of 1 per high-power field. The diagnosis of GBS was verified with a nerve conduction velocity test as well as. The GBS symptoms improved gradually on intravenous immunoglobulin. Three weeks later, he developed severe proteinuria and edema; laboratory investigation showed nephrotic syndrome which responded to steroid therapy. Renal biopsy showed minimal change glomerulonephritis. He remained free of proteinuria during his 20 months of follow-up.

  15. Nephrotic syndrome and Guillan-barre syndrome: A rare association in child

    Directory of Open Access Journals (Sweden)

    Bouyahia Olfa

    2010-01-01

    Full Text Available Only few cases of nephrotic syndrome associated with Guillain-Barre Syndrome (GBS have been reported in the adult and pediatric literature. A 3-year-old boy was initially admitted to our hospital following five days of progressive weakness of his extremities, fatigue, right leg pain and numbness. There was no past history of renal or neurological disease. Cerebro-spinal fluid studies showed a protein level of 92 mg/dL and a white cell count of 1 per high-power field. The diagnosis of GBS was verified with a nerve conduction velocity test as well as. The GBS symptoms improved gradually on intravenous immunoglobulin. Three weeks later, he deve-loped severe proteinuria and edema; laboratory investigation showed nephrotic syndrome which responded to steroid therapy. Renal biopsy showed minimal change glomerulonephritis. He re-mained free of proteinuria during his 20 months of follow-up.

  16. Pathology and Treatment of Traumatic Cervical Spine Syndrome: Whiplash Injury

    Directory of Open Access Journals (Sweden)

    Nobuhiro Tanaka

    2018-01-01

    Full Text Available Traumatic cervical syndrome comprises the various symptoms that occur as a result of external force such as that of a traffic accident. In 1995, the Quebec Task Force on whiplash-associated disorders (WAD formulated the Quebec classification, with accompanying clinical practice guidelines. These guidelines were in accordance with the stated clinical isolated or combined symptoms of the syndrome: neck pain, headaches, dizziness, numbness of head or face, eye pain, vision loss, double vision, tinnitus, hearing loss, nausea, and numbness and/or weakness of extremities. In recent years, cerebrospinal fluid hypovolemia or fibromyalgia has been recognized as a major notable cause of a variety of symptoms, although many clinical questions remain regarding the pathology of this syndrome. Therefore, its diagnosis and treatment should be conducted extremely carefully. While the Quebec classification and its guidelines are very useful for the normalization and standardization of symptoms of traumatic cervical syndrome, in the future, we would like to see the emergence of new guidelines that better address the diversity of this disease.

  17. Nest-location and nest-survival of black-chinned hummingbirds in New Mexico: A comparison between rivers with differing levels of regulation and invasion of nonnative plants

    Science.gov (United States)

    D. Max Smith; Deborah M. Finch; Scott H. Stoleson

    2014-01-01

    We compared plants used as sites for nests and survival of nests of black-chinned hummingbirds (Archilochus alexandri) along two rivers in New Mexico. Along the free-flowing Gila River which was dominated by native plants, most nests were constructed in boxelder (Acer negundo). Along the flow-restricted Middle Rio Grande which was dominated by nonnative plants, most...

  18. Serotonin syndrome

    Science.gov (United States)

    Hyperserotonemia; Serotonergic syndrome; Serotonin toxicity; SSRI - serotonin syndrome; MAO - serotonin syndrome ... brain area. For example, you can develop this syndrome if you take migraine medicines called triptans together ...

  19. Taro 'Chinês' em cultivo solteiro e consorciado com cenoura 'Brasília' e alface 'Quatro Estações' 'Chinês' taro in monocrop system and intercropped with 'Brasília' carrot and 'Quatro estações" lettuce

    Directory of Open Access Journals (Sweden)

    Néstor A Heredia Zárate

    2006-09-01

    Full Text Available Estudou-se a produtividade e a renda bruta do taro (Colocasia esculenta 'Chinês', da cenoura (Daucus carota 'Brasília' e da alface (Lactuca sativa 'Quatro estações' em cultivo solteiro e dos consórcios taro-cenoura e taro-alface, nas condições ambientais de Dourados-MS. Os cinco tratamentos foram arranjados, no campo, no delineamento experimental em blocos casualizados, com cinco repetições. Para cada espécie avaliaram-se diferentes componentes das plantas. O consórcio foi avaliado utilizando-se a expressão da razão de área equivalente (RAE e sua validação foi pela determinação da renda bruta. As maiores produções de alface foram de 1,57; 2,09 e 6,59 t ha-1 para massas de "cabeças" comerciais, não-comerciais e pendoadas, respectivamente, obtidas com o cultivo solteiro. As cenouras cultivadas solteiras foram 6,5 cm mais altas e produziram 6,83 t ha-1 a mais de massa fresca de raízes comerciais, em relação às consorciadas com o taro 'Chinês'. As maiores produções de folhas, rizomas-mãe e rizomas-filho comerciais do taro 'Chinês' foram obtidas no consórcio taro-alface e a de rizomas-filho não-comerciais foram no taro solteiro. As menores produções foram do consórcio taro-cenoura. As RAEs para os consórcios taro-cenoura e taro-alface foram de 1,06 e 1,83, respectivamente. Pela renda bruta, constatou-se que para os produtores de cenoura e de alface, os consórcios com o taro 'Chinês' poderiam ter induzido incrementos monetários por hectare de R$ 6.122,50 ou de R$ 20.045,00, respectivamente. Para o produtor de taro, somente o consórcio com a alface foi positivo, com aumento de R$ 7.313,50 ha-1.Yield and gross income of 'Chinês' taro (Colocasia esculenta, of 'Brasília' carrot (Daucus carota and of 'Quatro estações' lettuce (Lactuca sativa were evaluated in monocrop system and taro-carrot and taro-lettuce intercrops, in environmental conditions of Dourados, Mato Grosso do Sul State, Brazil. The five treatments

  20. Diagnosis of Carpal Tunnel Syndrome

    Science.gov (United States)

    Keith, Michael Warren; Masear, Victoria; Chung, Kevin; Maupin, Kent; Andary, Michael; Amadio, Peter C.; Barth, Richard W.; Watters, William C.; Goldberg, Michael J.; Haralson, Robert H.; Turkelson, Charles M.; Wies, Janet L.

    2016-01-01

    This clinical practice guideline was created to improve patient care by outlining the appropriate information-gathering and decision-making processes involved in managing the diagnosis of carpal tunnel syndrome. The methods used to develop this clinical practice guideline were designed to combat bias, enhance transparency, and promote reproducibility. The guideline’s recommendations are as follows: The physician should obtain an accurate patient history. The physician should perform a physical examination of the patient that may include personal characteristics as well as performing a sensory examination, manual muscle testing of the upper extremity, and provocative and/or discriminatory tests for alternative diagnoses. The physician may obtain electrodiagnostic tests to differentiate among diagnoses. This may be done in the presence of thenar atrophy and/or persistent numbness. The physician should obtain electrodiagnostic tests when clinical and/or provocative tests are positive and surgical management is being considered. If the physician orders electrodiagnostic tests, the testing protocol should follow the American Academy of Neurology/American Association of Neuromuscular and Electrodiagnostic Medicine/American Academy of Physical Medicine and Rehabilitation guidelines for diagnosis of carpal tunnel syndrome. In addition, the physician should not routinely evaluate patients suspected of having carpal tunnel syndrome with new technology, such as magnetic resonance imaging, computed tomography, and pressure-specified sensorimotor devices in the wrist and hand. This decision was based on an additional nonsystematic literature review following the face-to-face meeting of the work group. PMID:19474448

  1. Hypercholesterolemia Is Associated with the Subjective Evaluation of Postoperative Outcomes in Patients with Idiopathic Carpal Tunnel Syndrome Who Undergo Surgery: A Multivariate Analysis.

    Science.gov (United States)

    Yano, Koichi; Kawabata, Akira; Ikeda, Mikinori; Suzuki, Keisuke; Kaneshiro, Yasunori; Egi, Takeshi

    2018-04-01

    Carpal tunnel syndrome is a compression neuropathy of the median nerve at the wrist; its symptoms include neuropathic pain and sensory and motor disturbance distributed by the median nerve. Carpal tunnel syndrome and hypercholesterolemia have similar backgrounds, but the effect of these similarities on postoperative outcomes has not been reported. Using multivariate analysis, the authors analyzed the relationship between prognostic factors, including the presence of hypercholesterolemia, and subjective postoperative outcomes of patients with idiopathic carpal tunnel syndrome. Of 168 hands with carpal tunnel syndrome that were treated surgically, 141 that were followed up and assessed 1 year postoperatively or thereafter were included. The mean postoperative follow-up period was 40.8 months. Surgery was performed through a small palmar skin incision under local anesthesia. The outcomes were postoperative symptoms, including pain and numbness, and overall Kelly assessment. Preoperative numbness and pain resolved and alleviated in 94 of 141 hands and was diminished in 59 of 64 hands. Univariate analysis showed that postoperative numbness and Kelly assessment were significantly associated with hypercholesterolemia. Multivariate analysis showed that postoperative numbness was significantly associated with smoking and hypercholesterolemia, and Kelly assessment was significantly associated with smoking (adjusted OR, 3.3; 95 percent CI, 1.1 to 10; p = 0.04) and hypercholesterolemia (adjusted OR, 2.9; 95 percent CI, 1.4 to 6.3; p = 0.01). Hypercholesterolemia, usually a systemic condition in sites other than the hand, is associated with the subjective evaluation of postoperative symptoms in patients with idiopathic carpal tunnel syndrome. Risk, III.

  2. Mowat-Wilson syndrome

    Directory of Open Access Journals (Sweden)

    Mainardi Paola

    2007-10-01

    Full Text Available Abstract Mowat-Wilson syndrome (MWS is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, large and uplifted ear lobes, with a central depression, saddle nose with prominent rounded nasal tip, prominent columella, open mouth, with M-shaped upper lip, frequent smiling, and a prominent but narrow and triangular pointed chin, moderate-to-severe intellectual deficiency, epilepsy and variable congenital malformations including Hirschsprung disease (HSCR, genitourinary anomalies (in particular hypospadias in males, congenital heart defects, agenesis of the corpus callosum and eye anomalies. The prevalence of MWS is currently unknown, but 171 patients have been reported so far. It seems probable that MWS is under-diagnosed, particularly in patients without HSCR. MWS is caused by heterozygous mutations or deletions in the Zinc finger E-box-binding homeobox 2 gene, ZEB2, previously called ZFHX1B (SIP1. To date, over 100 deletions/mutations have been reported in patients with a typical phenotype; they are frequently whole gene deletions or truncating mutations, suggesting that haploinsufficiency is the main pathological mechanism. Studies of genotype-phenotype analysis show that facial gestalt and delayed psychomotor development are constant clinical features, while the frequent and severe congenital malformations are variable. In a small number of patients, unusual mutations can lead to an atypical phenotype. The facial phenotype is particularly important for the initial clinical diagnosis and provides the hallmark warranting ZEB2 mutational analysis, even in the absence of HSCR. The majority of MWS cases reported so far were sporadic, therefore the recurrence risk is low. Nevertheless, rare cases of sibling recurrence have been observed. Congenital malformations and seizures require

  3. Mowat-Wilson syndrome

    Science.gov (United States)

    Garavelli, Livia; Mainardi, Paola Cerruti

    2007-01-01

    Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, large and uplifted ear lobes, with a central depression, saddle nose with prominent rounded nasal tip, prominent columella, open mouth, with M-shaped upper lip, frequent smiling, and a prominent but narrow and triangular pointed chin), moderate-to-severe intellectual deficiency, epilepsy and variable congenital malformations including Hirschsprung disease (HSCR), genitourinary anomalies (in particular hypospadias in males), congenital heart defects, agenesis of the corpus callosum and eye anomalies. The prevalence of MWS is currently unknown, but 171 patients have been reported so far. It seems probable that MWS is under-diagnosed, particularly in patients without HSCR. MWS is caused by heterozygous mutations or deletions in the Zinc finger E-box-binding homeobox 2 gene, ZEB2, previously called ZFHX1B (SIP1). To date, over 100 deletions/mutations have been reported in patients with a typical phenotype; they are frequently whole gene deletions or truncating mutations, suggesting that haploinsufficiency is the main pathological mechanism. Studies of genotype-phenotype analysis show that facial gestalt and delayed psychomotor development are constant clinical features, while the frequent and severe congenital malformations are variable. In a small number of patients, unusual mutations can lead to an atypical phenotype. The facial phenotype is particularly important for the initial clinical diagnosis and provides the hallmark warranting ZEB2 mutational analysis, even in the absence of HSCR. The majority of MWS cases reported so far were sporadic, therefore the recurrence risk is low. Nevertheless, rare cases of sibling recurrence have been observed. Congenital malformations and seizures require precocious clinical

  4. Beals Syndrome

    Science.gov (United States)

    ... the syndrome. How does Beals syndrome compare with Marfan syndrome? People with Beals syndrome have many of the ... bone) and aortic enlargement problems as people with Marfan syndrome, and treatments for these problems are the same. ...

  5. Entrapment neuropathies and polyneuropathies in joint hypermobility syndrome/Ehlers-Danlos syndrome.

    Science.gov (United States)

    Granata, G; Padua, L; Celletti, C; Castori, M; Saraceni, V M; Camerota, F

    2013-08-01

    This study aims to investigate the involvement of the peripheral nervous system in Ehlers-Danlos syndromes/hypermobility type patients with particular attention to entrapment syndromes. We consecutively enrolled Ehlers-Danlos syndromes/hypermobility type patients. Patients underwent clinical, neurophysiological and ultrasound evaluations. Dynamic ultrasound evaluation was also performed in healthy subjects as control group. Fifteen Ehlers-Danlos syndromes/hypermobility type patients and fifteen healthy subjects were enrolled. Most of patients presented tingling, numbness, cramps in their hands or feet. Clinical evaluation was normal in all patients. One patient was affected with carpal tunnel syndrome and one with ulnar nerve entrapment at elbow. One patient had an increased and hypoechoic ulnar nerve at elbow at ultrasound evaluation. Dynamic ultrasound evaluation of ulnar nerve at elbow showed, in patients, twelve subluxations and three luxations. In the control group dynamic evaluation showed one case of ulnar nerve luxation. Statistical analysis showed a significant difference in the occurrence of ulnar nerve subluxation and luxation between patients and control subjects. The study shows an inconsistency between symptoms and neurophysiological and ultrasound evidences of focal or diffuse nerve involvement. The high prevalence of ulnar nerve subluxation/luxation at elbow in Ehlers-Danlos syndromes/hypermobility type patients could be explained by the presence of Osborne ligament laxity. Copyright © 2013. Published by Elsevier Ireland Ltd.

  6. Postural Orthostatic Tachycardia With Chronic Fatigue After HPV Vaccination as Part of the “Autoimmune/Auto-inflammatory Syndrome Induced by Adjuvants”

    OpenAIRE

    Lucija Tomljenovic PhD; Serena Colafrancesco MD; Carlo Perricone MD; Yehuda Shoenfeld MD, FRCP (Hon), MaACR

    2014-01-01

    We report the case of a 14-year-old girl who developed postural orthostatic tachycardia syndrome (POTS) with chronic fatigue 2 months following Gardasil vaccination. The patient suffered from persistent headaches, dizziness, recurrent syncope, poor motor coordination, weakness, fatigue, myalgias, numbness, tachycardia, dyspnea, visual disturbances, phonophobia, cognitive impairment, insomnia, gastrointestinal disturbances, and a weight loss of 20 pounds. The psychiatric evaluation ruled out t...

  7. Produção dos taros 'Chinês' e 'Macaquinho' em função de diferentes doses de uréia Yield of 'Chinês' and 'Macaquinho' taros as a function of different doses of urea

    Directory of Open Access Journals (Sweden)

    Néstor A. Heredia Zárate

    2004-06-01

    Full Text Available Conduziu-se este trabalho com o objetivo de avaliar a produção e a receita de dois clones de taro cultivados sob diferentes doses de uréia no solo. O trabalho foi desenvolvido em área do Horto de Plantas Medicinais, do Núcleo Experimental de Ciências Agrárias, da Universidade Federal de Mato Grosso do Sul, em Dourados-MS, no período de 5-9-2002 a 25-4-2003. Foram avaliados os clones de taro Macaquinho e Chinês, sob incorporação ao solo de 0, 60, 120, 180 e 240 kg ha-1 de uréia (45% de N. Os tratamentos foram arranjados como fatorial 2 x 5, no delineamento experimental de blocos casualizados, com três repetições. O plantio foi com rizomas-filho inteiros, sob população de 73.260 plantas ha-1. A colheita das plantas do 'Macaquinho' foi efetuada aos 189 dias após o plantio, e as do 'Chinês', aos 232 dias, quando mais de 70% da parte aérea das plantas apresentavam sintomas de senescência. As plantas do taro 'Macaquinho' produziram 41,89 t ha-1 de rizomas totais e 10,49 t ha-1 de rizomas-mãe-RM, o que correspondeu, respectivamente, a 3,06 (7,88% e 3,15 t ha-1 (42,92% a mais do que do 'Chinês', e com ciclo vegetativo de 43 dias a menos. As maiores produções de massa fresca de rizomas-filho-RF comerciais foram com a adição ao solo de 240 (31,77 t ha-1 e 180 (19,90 t ha-1 kg ha-1 de uréia. A produção de massa seca de rizomas totais foi dependente da interação clones e adubação com uréia, e as doses influenciaram significativamente na produção das plantas do 'Macaquinho' (máximo de 13,10 t ha-1 e mínimo de 6,30 t ha-1, para a incorporação de 240 e 120 kg ha-1 de uréia, respectivamente. A produção de massa seca de RM foi maior no 'Macaquinho' (2,26 t ha-1 e menor no 'Chinês' (1,95 t ha-1. A massa seca dos RF comerciais dependeu significativamente das doses de uréia, sendo maior com a incorporação de 240 kg ha-1 de uréia (7,05 t ha-1 e menor com 60 kg ha-1 de uréia (3,91 t ha-1. As maiores receitas e lucros

  8. Burning mouth syndrome and menopause

    Directory of Open Access Journals (Sweden)

    Parveen Dahiya

    2013-01-01

    Full Text Available Menopause is a physiological process typically occurring in the fifth decade of life. One of the most annoying oral symptoms in this age group is the burning mouth syndrome (BMS, which may be defined as an intraoral burning sensation occurring in the absence of identifiable oral lesion or laboratory findings. Pain in burning mouth syndrome may be described as burning, tender, tingling, hot, scalding, and numb sensation in the oral mucosa. Multiple oral sites may be involved, but the anterior two-third part and the tip of tongue are most commonly affected site. There is no definite etiology for BMS other than the precipitating causative factors, and it is still considered idiopathic. Various treatment options like use of benzodiazepine, anti-depressants, analgesics, capsaicin, alpha lipoic acids, and cognitive behavioral therapy are found to be effective, but definite treatment is still unknown. The present article discusses some of the recent concepts of etiopathogenesis of BMS as well as the role of pharmacotherapeutic management in this disorder.

  9. Case report: the effects of massage therapy on a woman with thoracic outlet syndrome.

    Science.gov (United States)

    Wakefield, Mary Lillias

    2014-12-01

    Thoracic outlet syndrome (TOS) refers to a group of conditions resulting from compression of the neurovascular structures of the thoracic outlet. The parameters for physical therapy include myofascial release (MFR), neuromuscular therapy (NMT), muscle strengthening, and stretching. This case study examined the effects of neuromuscular therapy, massage, and other manual therapies on a 56-year-old female presenting with bilateral numbness over the forearms and hands on waking. Numbness occurred most days, progressing to "dead rubbery" forearms and hands once or twice a month. The treatment plan was implemented over eight weeks and consisted of six, 50-minute bodywork sessions. Several nonbodywork strategies were also employed to address potential contributing factors to the TOS symptomology experienced by the client. Objective measurements included posture analysis (PA), range of movement (ROM), and Roos and Adson's tests. The Measure Your Own Medical Outcome Profile (MYMOP2), a client-generated measure of clinical outcome, was used to measure clinical change. MYMOP2 overall profile score results demonstrated an improvement of 2.25 from pretreatment to post-treatment measurement. Clinically meaningful change was measured by the individual and was indicative of substantial symptom improvement where a score change of over one was considered as meaningful. A course of massage was effective for numbness symptoms in an individual with TOS, and results lasted over a year without additional treatments. Further research is needed to fully understand the effects of massage for TOS symptoms.

  10. Radiological Diagnosis of a Rare Premature Aging Genetic Disorder: Progeria (Hutchinson-Gilford Syndrome

    Directory of Open Access Journals (Sweden)

    Haji Mohammed Nazir

    2017-01-01

    Full Text Available Hutchinson-Gilford Progeria Syndrome (HGPS is a rare disease with a combination of short stature, bone abnormalities, premature ageing, and skin changes. Though the physical appearance of these patients is characteristic, there is little emphasis on the characteristic radiological features. In this paper, we report a 16-year-old boy with clinical and radiological features of this rare genetic disorder. He had a characteristic facial appearance with a large head, large eyes, thin nose with beaked tip, small chin, protruding ears, prominent scalp veins, and absence of hair.

  11. Crescimento de plantas e produção de rizomas de taro 'Chinês' em função do tipo de muda

    Directory of Open Access Journals (Sweden)

    Puiatti Mário

    2003-01-01

    Full Text Available Verificou-se a viabilidade agronômica e econômica da utilização do rizoma mãe (cabeça de taro (Colocasia esculenta 'Chinês' na implantação da cultura, comparado à propagação convencional (rizomas filhos. O experimento constou de dez tratamentos, dispostos no delineamento blocos ao acaso, com cinco repetições. Os tratamentos consistiram de cabeça intacta, seis segmentos da cabeça e de três classes de rizomas filhos intactos, a saber: CI = cabeça intacta (peso médio de 300 g; CMS = metade superior da cabeça (150 g; CMI = metade inferior da cabeça (150 g; CTS = terço superior da cabeça (100 g; CTM = terço mediano da cabeça (100 g; CTI = terço inferior da cabeça (100 g; CML = metade lateral da cabeça (150 g; RFG = rizoma filho grande (100 g; RFM = rizoma filho médio (50 g e RFP = rizoma filho pequeno (25 g. Durante o ciclo avaliou-se, mensalmente, o estande, a altura e área foliar das plantas; na colheita, avaliou-se a produção de rizomas mãe e das classes de rizomas filhos. Realizou-se a análise econômica estimando-se os possíveis retornos obtidos com a venda de cada classe de rizomas. As menores porcentagens de plantas emergidas foram observadas nos tipos de mudas CTI, CMI e CTM com, respectivamente, 0%, 35% e 68%. Aos 105 e 165 dias após plantio foram observados os valores máximos em índice de área foliar e altura de plantas, respectivamente. A utilização da cabeça intacta (CI e dos segmentos CMS, CML e CTS apresentaram-se viáveis agronômica e economicamente, com rendimentos e retorno financeiro das classes de rizomas mãe, filho médio, comercial, refugo e total, semelhantes aos proporcionados pelos tipos de mudas RFG e RFM. Segmentos CML e CTS e muda RFG proporcionaram, como grande vantagem, maiores participações da classe filho grande nos rendimentos de rizomas por área e retorno estimado, que os demais tipos de mudas. A utilização da cabeça intacta e/ou dos segmentos CMS, CML e CTS, na

  12. O problema do carteiro chinês, algoritmos exatos e um ambiente MVI para análise de suas instâncias: sistema XNÊS

    Directory of Open Access Journals (Sweden)

    Marcos José Negreiros Gomes

    2009-08-01

    Full Text Available Apresenta-se um estudo geral sobre o Problema do Carteiro Chinês (PCC, nas versões simétrica, orientada e mista, do ponto de vista dos algoritmos exatos até então publicados sobre o assunto. Para apresentar as soluções exatas das versões do problema, foram utilizadas as implementações exatas dos algoritmos de Sherafat (dos casos orientado e misto com adaptações, e de Edmonds & Johnson (do simétrico adaptada de Burkard & Derigs. O trabalho também apresenta as diferenças de comportamento dos métodos em situações bastante peculiares, através de um conjunto de instâncias testes com o objetivo de apurar mais detalhadamente o seu desempenho. Por fim, mostramos o software (Sistema XNÊS idealizado para gerar grafos instâncias (simétricos, orientados e/ou mistos e soluções exatas para estas versões do Problema do Carteiro Chinês (PCC. Implementa-se aqui uma versão de um modelo de geração de grafos no modo de Modelagem Visual Interativa (MVI, através de um editor específico de grafos com atributos e informações de efeitos visuais nos vértices e nas ligações. Este software pode ser usado como demonstração efetiva da importância do problema na academia, assim como um potencial analista de rotas de problemas semelhantes, ou até mesmo como verificador de instâncias das mais complicadas ou de razoável porte do PCC.We do a general study over the Chinese Postman Problem (CCP, in the symmetric, oriented and mixed cases, in consideration to the modeling and exact algorithms published most recently. To find exact solutions "for/to" these versions of the problem we show and use exact implementations reported by Sherafat (to the Oriented and the Mixed cases with adaptations, Edmonds and Johnson (symmetric case adapted from Burkard & Derigs approach. The work also presents a set of evaluation instances to the methods, and peculiarities behind them to the performance and solution quality analysis. In this work we show the

  13. Piso de bambu chinês vs. piso de eucalipto brasileiro: estudo de caso comparativo das emissões de gases de efeito estufa no transporte

    Directory of Open Access Journals (Sweden)

    Thiago Zaldini Hernandes

    Full Text Available Com a disseminação de produtos para construção supostamente mais sustentáveis, tais como o piso de bambu importado da China, surge a necessidade de compreender, de fato, o quão mais sustentáveis são tais opções diante de soluções locais. Analisando apenas as emissões de gases de efeito estufa relacionados ao transporte, esta pesquisa comparou duas soluções de acabamento de piso maciço: o piso de bambu chinês e o assoalho de madeira de eucalipto brasileiro. A análise do saldo de emissão de gases de efeito estufa demonstrou que o transporte do piso de bambu ao redor do mundo não consegue sozinho comprometer todo o potencial de sequestro de carbono desse material. No entanto, sua contribuição para a diminuição do saldo é significativa. A contribuição do transporte diminuiu em 28,1% o potencial de sequestro do material bambu contra a diminuição de 1,4% para o material assoalho de madeira de eucalipto produzido localmente. Ainda, a pesquisa demonstrou que, apesar da maior massa de material utilizada por metro quadrado de piso acabado, a emissão de gases de efeito estufa no transporte do eucalipto é cerca de 8 vezes menor do que a do piso de bambu.

  14. Fanconi syndrome

    Science.gov (United States)

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

  15. Duane Syndrome

    Science.gov (United States)

    ... Frequently Asked Questions Español Condiciones Chinese Conditions Duane Syndrome En Español Read in Chinese What is Duane Syndrome? Duane syndrome, also called Duane retraction syndrome (DRS), ...

  16. Hunter Syndrome

    Science.gov (United States)

    ... in girls. There's no cure for Hunter syndrome. Treatment of Hunter syndrome involves management of symptoms and complications. Symptoms Hunter syndrome is one type of a group of inherited metabolic disorders called mucopolysaccharidoses (MPSs), and Hunter syndrome is ...

  17. Frank-ter Haar syndrome with unusual clinical features.

    Science.gov (United States)

    Dundar, Munis; Saatci, Cetin; Tasdemir, Sener; Akcakus, Mustafa; Caglayan, Ahmet Okay; Ozkul, Yusuf

    2009-01-01

    Frank-ter Haar syndrome first recognized by Frank et al. [Y. Frank, M. Ziprkowski, A. Romano, R. Stein, M.B. Katznelson, B. Cohen, R.M. Goodman, Megalocornea associated with multiple skeletal anomalies: a new genetic syndrome?, J. Genet. Hum. 21 (1973) 67-72.] and subsequently confirmed by ter Haar et al. [B. Ter Haar, B. Hamel, J. Hendriks, J. de Jager, Melnick-Needles syndrome: indication for an autosomal recessive form, Am. J. Med. Genet. 13 (1982) 469-477.]. The main clinical features of the syndrome are brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, macro cornea with or without glaucoma, full cheeks, small chin, bowing of the long bones, and flexion deformity of the fingers [S.M. Maas, H. Kayserili, J. Lam, M.Y. Apak, R.C. Hennekam, Further delineation of Frank-ter Haar syndrome, Am. J. Med. Genet. 131 (2004) 127-133.]. We report a child with Frank-ter Haar syndrome presenting unusual clinical features. Hypopigmented areas in hair, bilateral adducted thumb, bilateral contractures in elbows and pelvic limb, atrial septal defect have not been described previously in the literature. Our patient also had double-outlet right ventricle.

  18. Hamartomatous polyposis syndromes

    DEFF Research Database (Denmark)

    Jelsig, Anne Marie; Qvist, Niels; Brusgaard, Klaus

    2014-01-01

    Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syndrome. Other syndromes such as ......Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syndrome. Other syndromes...

  19. Horner Syndrome associated with a Herniated Cervical Disc: A Case Report.

    Science.gov (United States)

    Ma, Hyunjin; Kim, Insoo

    2012-06-01

    Horner syndrome (HS) occurs when there is interruption of the oculosympathetic pathway. The causes of HS are various, but HS originated from herniated cervical disc is very few. HS attributable to the lesion of the first-order neuron of cervical spinal cord is extremely rare. A 41-year old male was admitted for sudden onset of left ptosis and right side numbness. Neurological examination revealed ptosis, miosis and facial anhidrosis on the left side. MRI and CT scans demonstrated large left paramedian disc herniation with cord compression at the C4-5 level. The herniated disc was removed through anterior approach and his symptoms were improved after the operation.

  20. Congenital cervical dermal sinus tract caused tethered cord syndrome in an adult: a case report

    OpenAIRE

    Karatas, Y; Ustun, ME

    2015-01-01

    The objective of this study was to report on a 34-year-old woman who presented with tethered cord syndrome due to dermal sinüs tract. A 34-year-old woman had got dermal sınüs tract admitted to our hospital with swelling on the neck, pain and numbness on the left upper limb. She was treated by surgical removal of dermal sinuses and untethering the spinal cord which is stretched by the dermal sinus. Congenital dermal sinus tracts are uncommon types of cranial and spinal dysraphisms. They can oc...

  1. Hypocalcemic seizure in an adolescent with Down syndrome: a manifestation of unrecognized celiac disease.

    Science.gov (United States)

    Korkmaz, Hüseyin Anıl; Dizdarer, Ceyhun; Ecevit, Ciğdem Omür

    2013-01-01

    Celiac disease (CD) affects up to 1% of the general population. Classically, it manifests with intestinal symptoms (diarrhea, steatorrhea, abdominal pain or discomfort) associated with weight loss and anemia. Seizure is a rare form of presentation of CD. A 13-year-old female patient with Down syndrome was admitted to the pediatric emergency department with generalized tonicclonic seizure in addition to numbness around the mouth, paresthesias, and muscular cramping for seven days. Investigations revealed severe hypocalcemia and vitamin D deficiency, which were a consequence of malabsorption secondary to histopathologically confirmed CD. Physicians should be aware that unrecognized CD can cause severe hypocalcemia.

  2. Evaluation of Proctophyllodes huitzilopochtlii on feathers from Anna's (Calypte anna) and Black-chinned (Archilochus alexandri) Hummingbirds: Prevalence assessment and imaging analysis using light and tabletop scanning electron microscopy.

    Science.gov (United States)

    Yamasaki, Youki K; Graves, Emily E; Houston, Robin S; OConnor, Barry M; Kysar, Patricia E; Straub, Mary H; Foley, Janet E; Tell, Lisa A

    2018-01-01

    Proctophyllodes huitzilopochtlii Atyeo & Braasch 1966 (Acariformes: Astigmata: Proctophyllodidae), a feather mite, was found on feathers collected from five hummingbird species in California. This mite has not been previously documented on feathers from Anna's (Calypte anna [Lesson 1829]) or Black-chinned (Archilochus alexandri [Bourcier & Mulsant 1846]) Hummingbirds. A total of 753 hummingbirds were evaluated for the presence of mites by species (Allen's n = 112; Anna's n = 500; Black-chinned n = 122; Rufous n = 18; Calliope n = 1), sex (males n = 421; females n = 329; 3 unidentified), and age (juvenile n = 199; after-hatch-year n = 549; 5 unidentified). Of these 753 hummingbirds evaluated, mites were present on the rectrices of 40.9% of the birds. Significantly more Anna's Hummingbirds were positive for rectricial mites (59.2%) compared with 8.2% of Black-chinned, 0.9% of Allen's, 5.6% of Rufous Hummingbirds, and 0% for Calliope (p-value hummingbird species, male hummingbirds (44.9%) had a higher prevalence of rectricial mites compared to female hummingbirds (36.2%; p-value = 0.004), while juvenile hummingbirds (46.2%) had a non-significantly higher prevalence compared to after-hatch-year hummingbirds (39.0%; p-value = 0.089). On average, the percentage of the long axis of the rachis occupied by mites for the outer rectrices (R4 and R5) was 19%, compared to 11% for inner rectrices (R1 and R2), a significant difference (p-value = hummingbird-feather mite relationship is not well understood, but the specialized TSEM technique may be especially useful in examining natural positioning and developmental aspects of the mites since it allows in situ feather examination of live mites.

  3. Evaluation of Proctophyllodes huitzilopochtlii on feathers from Anna’s (Calypte anna) and Black-chinned (Archilochus alexandri) Hummingbirds: Prevalence assessment and imaging analysis using light and tabletop scanning electron microscopy

    Science.gov (United States)

    Yamasaki, Youki K.; Graves, Emily E.; Kysar, Patricia E.; Straub, Mary H.

    2018-01-01

    Proctophyllodes huitzilopochtlii Atyeo & Braasch 1966 (Acariformes: Astigmata: Proctophyllodidae), a feather mite, was found on feathers collected from five hummingbird species in California. This mite has not been previously documented on feathers from Anna’s (Calypte anna [Lesson 1829]) or Black-chinned (Archilochus alexandri [Bourcier & Mulsant 1846]) Hummingbirds. A total of 753 hummingbirds were evaluated for the presence of mites by species (Allen’s n = 112; Anna’s n = 500; Black-chinned n = 122; Rufous n = 18; Calliope n = 1), sex (males n = 421; females n = 329; 3 unidentified), and age (juvenile n = 199; after-hatch-year n = 549; 5 unidentified). Of these 753 hummingbirds evaluated, mites were present on the rectrices of 40.9% of the birds. Significantly more Anna’s Hummingbirds were positive for rectricial mites (59.2%) compared with 8.2% of Black-chinned, 0.9% of Allen’s, 5.6% of Rufous Hummingbirds, and 0% for Calliope (p-value hummingbird species, male hummingbirds (44.9%) had a higher prevalence of rectricial mites compared to female hummingbirds (36.2%; p-value = 0.004), while juvenile hummingbirds (46.2%) had a non-significantly higher prevalence compared to after-hatch-year hummingbirds (39.0%; p-value = 0.089). On average, the percentage of the long axis of the rachis occupied by mites for the outer rectrices (R4 and R5) was 19%, compared to 11% for inner rectrices (R1 and R2), a significant difference (p-value = hummingbird–feather mite relationship is not well understood, but the specialized TSEM technique may be especially useful in examining natural positioning and developmental aspects of the mites since it allows in situ feather examination of live mites. PMID:29444089

  4. A Rare Case of Neuromyelitis Optica Spectrum Disorder in Patient with Sjogren’s Syndrome

    Directory of Open Access Journals (Sweden)

    Supat Thongpooswan

    2014-01-01

    Full Text Available We report a 48-year-old female with the history of Sjogren’s syndrome who presented with 3-week history of tingling, numbness, and shooting back, waist, and bilateral leg pain and numbness in the pelvic region with urinary and bowel incontinence. Physical examination was remarkable for reduced motor power in both lower extremities with spasticity. Sensory deficit was noted at the T6 level. Laboratory investigation revealed elevated ESR and CRP and positive serum antiaquaporin-4 IgG. Thoracic and lumbar magnetic resonance imaging revealed abnormal patchy areas, leptomeningeal enhancement through the thoracic cord extending from T3 through T6 levels, without evidence of cord compression. Impression of neuromyelitis optica spectrum disorder was made and patient was treated with methylprednisolone intravenously followed by tapering oral prednisone. Neurological symptoms gradually improved with resolution of bowel and urinary incontinence. In a patient with Sjogren’s syndrome who presents with neurological complaints, the possibility of neuromyelitis optica or neuromyelitis optica spectrum disorder should be considered. Awareness of the possibility of CNS disease is important due to the serious nature of CNS complications, some of which are treatable with immunosuppressants. Our patient with Sjogren’s syndrome who presented with myelopathy benefited from early recognition and institution of appropriate therapy.

  5. [An updated review of 1p36 deletion (monosomy) syndrome].

    Science.gov (United States)

    Bello, Sabina; Rodríguez-Moreno, Antonio

    The Monosomy 1p36 deletion syndrome is part of the group of diseases known as Rare Diseases. The objective of the present work is to review the characteristics of Monosomy 1p36 deletion syndrome. The monosomy 1p36 deletion syndrome phenotype includes: dysmorphic craniofacial features; large anterior fontanelle, unibrow, deep-set eyes, epicanthus, wide nasal root/bridge, mandible hypoplasia, abnormal location of the pinna, philtrum and pointed chin; neurological alterations: seizures and hydrocephalus (in some cases). Cerebral malformations: ventricular hypertrophy, increased subarachnoid space, morphological alterations of corpus callosum, cortical atrophy, delays in myelinisation, periventricular leukomalacia and periventricular heterotopia. These alterations produce intellectual disability and delays in motor growth, communication skills, language, social and adaptive behaviour. It is Hearing and vision impairments are also observed in subjects with this syndrome, as well as alterations of cardiac, endocrine and urinary systems and alterations at skin and skeletal level. Approximately 100 cases have been documented since 1981. This rare disease is the most common subtelomeric-micro-deletion syndrome. In situ hybridization with fluorescence (FISH) and array-comparative genomic hybridization (CGH-array) are at present the two best diagnostic techniques. There is currently no effective medical treatment for this disease. Copyright © 2016 Sociedad Chilena de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

  6. Involvement of Numb-mediated HIF-1α inhibition in anti-proliferative effect of PNA-antimiR-182 in trastuzumab-sensitive and -resistant SKBR3 cells.

    Science.gov (United States)

    Sajadimajd, Soraya; Yazdanparast, Razieh; Akram, Sadeghirizi

    2016-04-01

    Trastuzumab is a humanized monoclonal antibody against the human epidermal growth factor receptor 2 (HER2) that is overexpressed in about 25 % of breast cancer patients. However, primary and/or acquired resistance to trastuzumab develops in most affected persons. In this study, we explored the functional role of miR-182 inhibition with aiming the sensitization of SKBR3 cells to trastuzumab. Cell viability, apoptosis, colony formation, and migration capacities of SKBR3(S) (sensitive) and SKBR3(R) (resistant) cells were assessed to determine the anti-proliferative effects of PNA-antimiR-182. In addition, the expression levels of miR-182, mRNA of FOXO1, and Bim as well as the protein levels of HER2 and Notch1 signaling factors were evaluated by stem-loop RT-qPCR, RT-qPCR, and Western blot, respectively. The results indicated that miR-182 might play a causal role in the mechanism of trastuzumab. In line with that, PNA-antimiR-182 inhibited synergistically the viability of both the sensitive and resistant cell groups. Furthermore, the inhibitory effect of PNA-anitmiR-182 on migration in SKBR3 cells was more than the induction of apoptosis. In addition, PNA-antimiR-182 reduced the levels of NICD, Hes1, HIF-1α, and p-Akt in both cell groups, while it augmented the intracellular content of FOXO1 and Numb suppressor proteins. In other words, PNA-antimiR-182-mediated upregulation of Numb was associated with downregulation of HIF-1α and Hes1. Consequently, downregulation of miR-182 might find therapeutical value for overcoming trastuzumab resistance. Graphical Abstract The crosstalk between HER2 and Notch1 signaling pathway is mediated by miR-182.

  7. POEMS syndrome associated with Castleman disease: a case report and literature review

    Directory of Open Access Journals (Sweden)

    Juan Kang

    2014-06-01

    Full Text Available Polyneuropathy, organomegaly, endocrinopathy, M proteins, and skin changes (POEMS syndrome is a multisystemic disorder that clinically manifests as paraneoplastic and monoclonal plasma cell dyscrasia. Its acronym is derived from its principal characteristics: polyneuropathy, organomegaly, endocrinopathy, M proteins, and skin changes. Here, the authors reported a case of POEMS syndrome that was also associated with Castleman disease. A 53-year-old female patient was admitted to our hospital with limb weakness, numbness, edema, abdominal distention, and fever. Physical examination revealed tetraplegia, paraesthesia, and hyporeflexia in all four limbs, in addition to lymphadenectasis, splenomegaly, skin hyperpigmentation, hypertrichosis, and pitting edema. Laboratory tests and imaging revealed thrombocytosis, hypothyroidism, diabetes, hydropericardium, hydrothorax, splenomegaly, and lymphadenectasis. Electromyography showed the characteristic patterns of both demyelinating disease and axonal degeneration. Serum protein electrophoresis revealed monoclonal immunoglobulin G-lambda paraproteins. Histological examination clearly diagnosed the disease as the hyaline vascular subtype. The final diagnosis in this case was POEMS syndrome in association with Castleman disease.

  8. Case Report: Cervical chondrocalcinosis as a complication of Gitelman syndrome [version 1; referees: 2 approved

    Directory of Open Access Journals (Sweden)

    Zahra Iqbal

    2016-05-01

    Full Text Available Gitelman syndrome is an inherited tubulopathy leading to a hypokalaemic metabolic alkalosis with hypomagnesaemia and hypocalciuria. Most cases are due to mutations in SLC12A3, encoding the apical thiazide sensitive co-transporter in the distal convoluted tubule. Musculoskeletal effects of Gitelman syndrome are common, including muscle weakness, tetany and cramps. Chronic hypomagnesaemia can lead to chondrocalcinosis, which often affects knees but can affect other joints. Here we present a case of Gitelman syndrome complicated by cervical chondrocalcinosis leading to neck pain and numbness of the fingers. Treatments directed at correcting both hypokalaemia and hypomagnesaemia were initiated and allowed conservative non-surgical management of the neck pain. Recognition of chondrocalcinosis is important and treatments must be individualised to correct the underlying hypomagnesaemia.

  9. Streptococcal Toxic Shock Syndrome: Life Saving Role of Peritoneal Lavage and Drainage.

    Science.gov (United States)

    Yokoyama, Minako; Oyama, Fumie; Ito, Asami; Yokota, Megumi; Matsukura, Daisuke; Tsutsumi, Shinji; Kasai, Tomonori; Nitobe, Yohshiro; Morikawa, Akiko; Ozaki, Takashi; Yokoyama, Yoshihito

    2016-01-01

    We encountered a case where an infection with group A streptococcus (GAS; ie, Streptococcus pyogenes) initially caused primary peritonitis and then subsequently caused streptococcal toxic shock syndrome. The patient's life was likely saved by an emergency laparotomy followed by extensive peritoneal lavage and drainage. A 40-year-old woman was admitted to the Emergency Department for lower abdominal pain and numbness in the extremities. She presented with systemic inflammatory response syndrome. An emergency laparotomy was performed, and ascites that resembled pus and general peritonitis were noted. Peritoneal lavage and drainage were performed, and GAS was isolated from peritoneal fluid. Gram staining of cervical polyp specimens revealed Gram-positive bacteria. The patient was diagnosed with streptococcal toxic shock syndrome due to an ascending GAS infection originating from vagina.

  10. Marfan Syndrome

    Science.gov (United States)

    Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, blood ... fibrillin. A problem with the fibrillin gene causes Marfan syndrome. Marfan syndrome can be mild to severe, and ...

  11. WIEDEMANN SYNDROME

    African Journals Online (AJOL)

    hi-tech

    BILATERAL BENIGN HAEMORRHAGIC ADRENAL CYSTS IN BECKWITH - WIEDEMANN. SYNDROME: CASE REPORT. P. ANOOP and M. A. ANJAY. SUMMARY. Beckwith-Wiedemann syndrome is the most common overgrowth malformation syndrome. The classical features include macrosomia, macroglossia, ...

  12. Tourette syndrome

    Science.gov (United States)

    Gilles de la Tourette syndrome; Tic disorders - Tourette syndrome ... Tourette syndrome is named for Georges Gilles de la Tourette, who first described this disorder in 1885. The disorder is likely passed down through families. ...

  13. Williams syndrome

    Science.gov (United States)

    Williams-Beuren syndrome ... Williams syndrome is caused by not having a copy of several genes. It may be passed down in families. ... history of the condition. However, people with Williams syndrome have a 50% chance of passing the disorder ...

  14. Piriformis Syndrome

    Science.gov (United States)

    ... the National Library of Medicine’s MedlinePlus Piriformis Syndrome Metabolic Syndrome Show More Show Less Search Disorders SEARCH SEARCH Definition Treatment Prognosis Clinical Trials Organizations Publications Definition Piriformis syndrome ...

  15. CHOROIDAL MELANOMA IN PHAKOMATOSIS PIGMENTOVASCULARIS WITH KLIPPEL-TRENAUNAY SYNDROME.

    Science.gov (United States)

    Shields, Carol L; Di Nicola, Maura; Pellegrini, Marco; Shields, Jerry A

    2017-09-20

    To describe the relationship of choroidal melanoma with phakomatosis pigmentovascularis in patients with Klippel-Trenaunay syndrome. Retrospective review of 5 patients. In all 5 cases, the patient was white and the cutaneous port-wine stain was congenital. The port-wine stain involved the chin (n = 1), jawline (n = 2), lower cheek (n = 1), thorax (n = 5), abdomen (n = 4), upper (n = 4), and lower (n = 3) limb(s). The ocular melanocytosis involved the sclera (n = 5), iris (n = 2) and choroid (n = 4). At diagnosis of choroidal melanoma, mean patient age was 57 years (median 61, range 17-83 years). The melanoma demonstrated mean basal diameter of 11.6 mm (median 12, range 5-16 mm) and mean thickness of 5.7 mm (median 6.1, range 2-9), revealing intrinsic tumor pigment and subretinal fluid in all cases. Melanoma management included plaque radiotherapy (n = 3), thermotherapy (n = 1), or enucleation (n = 1). At mean follow-up of 4 years, one patient demonstrated melanoma-related metastasis with death. Phakomatosis pigmentovascularis represents coexistence of Klippel-Trenaunay syndrome (or Sturge-Weber syndrome) and oculo(dermal) melanocytosis, promoting risk for life-threatening uveal melanoma. The authors suggest that all patients with Klippel-Trenaunay syndrome be evaluated for phakomatosis pigmentovascularis and affected patients have dilated fundus examination once or twice a year.

  16. Deletion 22q13.3 syndrome

    Directory of Open Access Journals (Sweden)

    Phelan Mary C

    2008-05-01

    Full Text Available Abstract The deletion 22q13.3 syndrome (deletion 22q13 syndrome or Phelan-McDermid syndrome is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. The deletion occurs with equal frequency in males and females and has been reported in mosaic and non-mosaic forms. Due to lack of clinical recognition and often insufficient laboratory testing, the syndrome is under-diagnosed and its true incidence remains unknown. Common physical traits include long eye lashes, large or unusual ears, relatively large hands, dysplastic toenails, full brow, dolicocephaly, full cheeks, bulbous nose, and pointed chin. Behavior is autistic-like with decreased perception of pain and habitual chewing or mouthing. The loss of 22q13.3 can result from simple deletion, translocation, ring chromosome formation and less common structural changes affecting the long arm of chromosome 22, specifically the region containing the SHANK3 gene. The diagnosis of deletion 22q13 syndrome should be considered in all cases of hypotonia of unknown etiology and in individuals with absent speech. Although the deletion can sometimes be detected by high resolution chromosome analysis, fluorescence in situ hybridization (FISH or array comparative genomic hybridization (CGH is recommended for confirmation. Differential diagnosis includes syndromes associated with hypotonia, developmental delay, speech delay and/or autistic-like affect (Prader-Willi, Angelman, Williams, Smith-Magenis, Fragile X, Sotos, FG, trichorhinophalangeal and velocardiofacial syndromes, autism spectrum disorders, cerebral palsy. Genetic counseling is recommended and parental laboratory studies should be considered to identify cryptic rearrangements and detect parental mosaicism. Prenatal diagnosis should be offered for future pregnancies in those families with inherited rearrangements

  17. Craniofacial morphology, dentition, and skeletal maturity in four siblings with Seckel syndrome

    DEFF Research Database (Denmark)

    Kjaer, I; Hansen, N; Becktor, K B

    2001-01-01

    OBJECTIVE: To describe the craniofacial morphology, dentition, and hand maturity in four siblings with Seckel syndrome. PATIENTS: Two boys and two girls, with Seckel syndrome. The children studied showed extreme growth retardation, severe microcephaly, bird-headed profile with receding chin...... malformations were observed. Taurodontic root morphology was observed only in the girls. The approximate skeletal maturity showed retardation from 4 years 3 months to 4 years 11 months. Malformations of the hand-wrist skeleton occurred in the epiphyseal ossification centers of the middle phalangeal bone...... in the second, third, and fourth finger and in the distal phalangeal bone in the fifth finger. The epiphyseal ossification centers were lacking in the middle and distal phalangeal bones of the fifth finger. CONCLUSION: The underlying gene defect in the affected children seemingly affects bone development...

  18. Evaluation of Proctophyllodes huitzilopochtlii on feathers from Anna's (Calypte anna and Black-chinned (Archilochus alexandri Hummingbirds: Prevalence assessment and imaging analysis using light and tabletop scanning electron microscopy.

    Directory of Open Access Journals (Sweden)

    Youki K Yamasaki

    Full Text Available Proctophyllodes huitzilopochtlii Atyeo & Braasch 1966 (Acariformes: Astigmata: Proctophyllodidae, a feather mite, was found on feathers collected from five hummingbird species in California. This mite has not been previously documented on feathers from Anna's (Calypte anna [Lesson 1829] or Black-chinned (Archilochus alexandri [Bourcier & Mulsant 1846] Hummingbirds. A total of 753 hummingbirds were evaluated for the presence of mites by species (Allen's n = 112; Anna's n = 500; Black-chinned n = 122; Rufous n = 18; Calliope n = 1, sex (males n = 421; females n = 329; 3 unidentified, and age (juvenile n = 199; after-hatch-year n = 549; 5 unidentified. Of these 753 hummingbirds evaluated, mites were present on the rectrices of 40.9% of the birds. Significantly more Anna's Hummingbirds were positive for rectricial mites (59.2% compared with 8.2% of Black-chinned, 0.9% of Allen's, 5.6% of Rufous Hummingbirds, and 0% for Calliope (p-value < 0.0001. Across all hummingbird species, male hummingbirds (44.9% had a higher prevalence of rectricial mites compared to female hummingbirds (36.2%; p-value = 0.004, while juvenile hummingbirds (46.2% had a non-significantly higher prevalence compared to after-hatch-year hummingbirds (39.0%; p-value = 0.089. On average, the percentage of the long axis of the rachis occupied by mites for the outer rectrices (R4 and R5 was 19%, compared to 11% for inner rectrices (R1 and R2, a significant difference (p-value = <0.0001. There was a marginal lack of significance for symmetrical distribution of tail mites with the mean left side percentage of long axis of the rachis occupied by mites being 16% and very close to the mean right side score of 18% (p-value = 0.003. The identification of the feather mite species was based on light microscopic morphometry, and mite distribution on feathers was further evaluated using tabletop scanning electron microscopy (TSEM. The hummingbird-feather mite relationship is not well understood

  19. Clinical association: Lyme disease and Guillain-Barre syndrome.

    Science.gov (United States)

    Patel, Kinner; Shah, Siddharth; Subedi, Dinesh

    2017-10-01

    Guillain-Barre Syndrome (GBS) is a life-threatening condition in which patients may present to the Emergency Department in respiratory distress leading to death. The early identification and treatment of such a condition is paramount in preventing mortality. While there are many infections associated with GBS, the association with Lyme disease is uncommon. Through our case we aim to highlight Borrelia burgdorferi as an important antecedent infection associated with the development of GBS. In this case we report a 31-year-old male who was diagnosed with Lyme disease and GBS with relevant clinical presentation including progressive numbness and weakness in bilateral hands and feet for the past 1week along with areflexia. Initiation of medical therapy with intravenous immunoglobulin and parenteral ceftriaxone resulted in resolution of his symptoms. The treatment of both diseases early can help prevent further central nervous complications leading to high morbidity and mortality. Copyright © 2017 Elsevier Inc. All rights reserved.

  20. Trigeminal perineural spread of renal cell carcinoma

    International Nuclear Information System (INIS)

    Hornik, Alejandro; Rosenblum, Jordan; Biller, Jose

    2012-01-01

    A 55-year-old man had a five-day history of “pins and needles” sensation on the left chin. Examination showed decreased pinprick sensation on the territory of the left mandibular branch of the trigeminal nerve. Brain magnetic resonance imaging (MRI) with gadolinium showed enhancement involving the left mandibular branch. Computed tomography (CT) of the chest, abdomen, and pelvis showed a left kidney mass diagnosed as renal carcinoma following nephrectomy. The “numb-chin” syndrome heralds or accompanies systemic malignancies. Trigeminal perineural spread has been well-documented in head and neck neoplasms, however, to our knowledge, it has not been reported in renal neoplasms. (author)

  1. Posterior Reversible Encephalopathy Syndrome in Pediatric Hematologic-Oncologic Disease: Literature Review and Case Presentation

    Science.gov (United States)

    ARZANIAN, Mohammad Thaghi; SHAMSIAN, Bibi Shahin; KARIMZADEH, Parvaneh; KAJIYAZDI, Mohammad; MALEK, Fatima; HAMMOUD, Mohammad

    2014-01-01

    Objective Posterior reversible encephalopathy syndrome (PRES) is a cliniconeuroradiological disease entity, which is represented by characteristic magnetic resonance imaging (MRI) findings of subcortical/cortical hyperintensity in T2-weighted sequences. It is more often seen in parietaloccipital lobes, and is accompanied by clinical neurological changes. PRES is a rare central nervous system (CNS) complication in patients with childhood hematologic-oncologic disese and shows very different neurological symptoms between patients, ranging from numbness of extremities to generalized seizure. In this article, we will review PRES presentation in hematologic-oncologic patients. Then, we will present our patient, a 7-year-old boy with Evans syndrome on treatment with cyclosporine, mycophenolate mofetil (MMF) and prednisone, with seizure episodes and MRI finding in favour of PRES. PMID:24949044

  2. Crescimento e produção de taro 'Chinês' influenciados por tipos de mudas e camadas de bagaço de cana-de-açúcar Plant growth and yield of 'Chinês' corms taro influenced by propagation methods and sugar-cane mulch

    Directory of Open Access Journals (Sweden)

    Mário Puiatti

    2004-12-01

    Full Text Available Foram conduzidos dois experimentos consecutivos, numa mesma área, em Viçosa (MG, de 19/11/1997 a 08/08/1998 (experimento I e de 01/09/1998 a 06/06/1999 (experimento II, com o taro 'Chinês' (BGH 5928. Utilizou-se o delineamento experimental de blocos ao acaso, em esquema fatorial 4 x 7 (tipos de mudas x camadas de bagaço de cana-de-açúcar, com três repetições. No experimento I avaliaram-se os efeitos de quatro tipos de mudas (rizoma-mãe e rizomas filhos grande, médio e pequeno, com 80; 55; 35 e 20 g de massa fresca média, respectivamente e sete espessuras de camadas de bagaço em cobertura (0; 4; 8; 12; 16; 20 e 24 cm. No experimento II avaliou-se o efeito residual das camadas de bagaço utilizadas no experimento I, mantendo-se os mesmos tipos de mudas, com massas semelhantes. Avaliaram-se o estande e altura de plantas, índice de área foliar (IAF e produção final de classes de rizomas. Menores estandes foram obtidos no experimento I e para o tipo de muda filho pequeno, principalmente na ausência de bagaço. Mudas com maior massa e camadas intermediárias de bagaço proporcionaram plantas mais vigorosas e com maiores valores de IAF. Não houve interação entre camadas de bagaço e tipos de mudas, para produção de rizomas, em ambos experimentos. No experimento I verificou-se efeito significativo para ambos os fatores, isoladamente, com maiores produções de rizomas totais e comerciáveis obtidas para o tipo de muda rizomas-mãe, seguido de filho grande, e camada de bagaço entre 16,4 a 17,4 cm de espessura. No experimento II houve efeito apenas de tipos de mudas com maiores produções de rizomas totais e comerciáveis para as mudas tipos rizoma-mãe e filho grande.Two consecutive experiments were carried out, in the same area, from 11/19/1997 to 08/08/1998 (experiment I and from 09/01/1998 to 06/06/1999 (experiment II, with taro 'Chinês' (BGH 5928. The experiments consisted of 28 treatments, in a randomized complete block

  3. Myelodysplastic Syndromes

    Science.gov (United States)

    ... blood cells, and the cells have a specific mutation in their DNA. Myelodysplastic syndrome with excess blasts — ... Chemicals linked to myelodysplastic syndromes include tobacco smoke, pesticides and industrial chemicals, such as benzene. Exposure to ...

  4. Moebius Syndrome

    Science.gov (United States)

    ... and supports a broad range of research on neurogenetic disorders, including Moebius syndrome. The goals of these ... and supports a broad range of research on neurogenetic disorders, including Moebius syndrome. The goals of these ...

  5. Pendred Syndrome

    Science.gov (United States)

    ... scan) to look for two characteristics of Pendred syndrome. One characteristic might be a cochlea with too few turns. ... Inner Ear Credit: NIH Medical Arts A second characteristic of Pendred syndrome is an enlarged vestibular aqueduct (see figure). The ...

  6. Rett Syndrome

    Science.gov (United States)

    Rett syndrome is a rare genetic disease that causes developmental and nervous system problems, mostly in girls. It's related to autism spectrum disorder. Babies with Rett syndrome seem to grow and ...

  7. Ohtahara Syndrome

    Science.gov (United States)

    ... but be profoundly handicapped. As they grow, some children will progress into other epileptic disorders such as West syndrome and Lennox-Gestaut syndrome. What research is being done? The NINDS conducts and supports an extensive research program on seizures ...

  8. Gardner's syndrome

    International Nuclear Information System (INIS)

    Sobrado Junior, C.W.; Bresser, A.; Cerri, G.G.; Habr-Gama, A.; Pinotti, H.W.; Magalhaes, A.

    1988-01-01

    A case of familiar poliposis of colon related to a right mandibular osteoma is reported (this association is usually called Gardner's syndrome). Radiologic pictures ae shown and some commentaries about this syndrome concerning the treatment are made. (author) [pt

  9. Turner Syndrome

    Science.gov (United States)

    Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or incomplete X ... work properly. Other physical features typical of Turner syndrome are Short, "webbed" neck with folds of skin ...

  10. Metabolic Syndrome

    Science.gov (United States)

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

  11. Felty syndrome

    Science.gov (United States)

    Seropositive rheumatoid arthritis (RA); Felty's syndrome ... The cause of Felty syndrome is unknown. It is more common in people who have had rheumatoid arthritis (RA) for a long time. People with ...

  12. Cushing's Syndrome

    Science.gov (United States)

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

  13. Usher Syndrome

    Science.gov (United States)

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

  14. Piriformis syndrome

    Science.gov (United States)

    Pseudosciatica; Wallet sciatica; Hip socket neuropathy; Pelvic outlet syndrome; Low back pain - piriformis ... Sciatica is the main symptom of piriformis syndrome. Other symptoms include: Tenderness or a dull ache in ...

  15. Dressler's Syndrome

    Science.gov (United States)

    ... syndrome Overview Dressler's syndrome is a type of pericarditis — inflammation of the sac surrounding the heart (pericardium). ... reducing its ability to pump blood efficiently. Constrictive pericarditis. Recurring or chronic inflammation can cause the pericardium ...

  16. Trigeminal perineural spread of renal cell carcinoma

    Energy Technology Data Exchange (ETDEWEB)

    Hornik, Alejandro; Rosenblum, Jordan; Biller, Jose [Stritch School of Medicine, Loyola University Medical Center, Chicago (United States)

    2012-07-01

    A 55-year-old man had a five-day history of 'pins and needles' sensation on the left chin. Examination showed decreased pinprick sensation on the territory of the left mandibular branch of the trigeminal nerve. Brain magnetic resonance imaging (MRI) with gadolinium showed enhancement involving the left mandibular branch. Computed tomography (CT) of the chest, abdomen, and pelvis showed a left kidney mass diagnosed as renal carcinoma following nephrectomy. The 'numb-chin' syndrome heralds or accompanies systemic malignancies. Trigeminal perineural spread has been well-documented in head and neck neoplasms, however, to our knowledge, it has not been reported in renal neoplasms. (author)

  17. International Rett Syndrome Foundation

    Science.gov (United States)

    ... Newsletters & Reports About Rett Syndrome What is Rett Syndrome? Rett Syndrome Diagnosis Boys with MECP2 Clinics FAQs Glossary ... Newsletters & Reports About Rett Syndrome What is Rett Syndrome? Rett Syndrome Diagnosis Boys with MECP2 Clinics FAQs Glossary ...

  18. Thoracic outlet syndrome after the Nuss procedure for pectus excavatum: Is it a rare complication?

    Science.gov (United States)

    Nagasao, Tomohisa; Morotomi, Tadaaki; Kuriyama, Motone; Kogure, Tetsukuni; Kudo, Hirro; Hamamoto, Yusuke; Tamai, Motoki

    2017-10-01

    The present study aims to elucidate the frequency of thoracic outlet syndrome after the Nuss procedure for pectus excavatum and the conditions in which thoracic outlet syndrome is likely to develop. A retrospective study including 85 pectus excavatum patients (58 males and 27 females) was conducted. Thoracic outlet syndrome was defined as a condition in which the patient has numbness, lassitude, or pain of the upper limbs at rest or during motion of the upper limbs. The frequency of the thus-defined thoracic outlet syndrome was evaluated in 85 patients. Age, sex, Haller indices, and the positions of the correction bars were compared between the patients who developed thoracic outlet syndrome and those who did not. Preadolescent patients (18 out of 85) did not develop postoperative thoracic outlet syndrome. In total, 15.2% of adult male patients (7 out of 46) and 33% of adult female patients (7 out of 21) developed postoperative thoracic outlet syndrome. For both male and female groups, Haller indices were significantly greater for patients who had postoperative thoracic outlet syndrome than for those who did not. Correction bars were generally placed at higher intercostal spaces in patients who developed postoperative thoracic outlet syndrome than in those who did not. A considerable percentage of adult patients develop thoracic outlet syndrome after the Nuss procedure for pectus excavatum. Maturity of the thoracic wall, femininity, severity of the deformity (represented by greater Haller indices), and placement of correction bars at superior intercostal spaces are risk factors for postoperative thoracic outlet syndrome. Copyright © 2017 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

  19. [Capgras syndrome].

    Science.gov (United States)

    Alcoverro Fortuny, O; Sierra Acín, A C

    2001-01-01

    The authors report a case of Capgras' syndrome in a 16-years-old child, who had been hospitalized for psychotic disorder. A review of the literature is performed. Most authors state that Capgras' syndrome would represent a symptom of underlying medical o functional disorders, although the term syndrome is used. The main etiopathogenic hypothesis of this syndrome are put forward (psychodynamic, disconnection, neuropsychological and medical).

  20. Velocardiofacial Syndrome

    Science.gov (United States)

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

    2009-01-01

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

  1. Sick Sinus Syndrome After a Single Oral Administration of Garenoxacin

    Directory of Open Access Journals (Sweden)

    Chiyo Sugiyama, MD

    2010-01-01

    Full Text Available This report presents the case of a 60-year-old female who demonstrated sick sinus syndrome after a single administration of Garenoxacin (GRNX. She was administered GRNX for an upper respiratory infection and 10 minutes thereafter, she suddenly felt palpitation and numbness of both arms. She was transferred to the hospital 2 hours after taking GRNX. An electrocardiogram showed bradycardia with junctional escape beats and the longest sinus arrest was 4 seconds. She was treated with a temporary pacemaker and 21 hours after the administration of GRNX her sinus node function was observed to have completely improved. GRNX-induced sick sinus syndrome was suspected because her clinical course was compatible with the concentration of GRNX and her other cardiological assessments, including an electrophysiologic study (EPS which were conducted on the 9th day of the admission, were normal. GRNX has less effect on the QT interval than other quinolone agents. However, physicians should be aware of the risk of sick sinus syndrome because GRNX is frequently prescribed in outpatient clinics.

  2. Parsonage-Turner syndrome in second-degree contact burns.

    Science.gov (United States)

    Zhao, Jing-Chun; Xian, Chun-Jing; Yu, Jia-Ao

    2014-01-01

    Literature on the complications of burns is abundant. However, there is a paucity of literature on Parsonage-Turner syndrome as a complication of contact burns. The authors described the case of a 27-year-old Chinese man who sustained contact burns on the left upper limb and the left side of the chest wall, presenting sharp intense pain and swelling of the left shoulder deriving from the diagnosis of Parsonage-Turner syndrome. On the basis of clinical findings, the authors selected conservative treatment both for the burns and brachial plexus injury. Approximately 10 days postinjury the patient was able to move his upper limb in the same range as the contralateral uninjured limb. The sensory function recovered and the numbness of the upper limb gradually disappeared. This case shows that Parsonage-Turner syndrome can occur even in second-degree burns with a small total body surface area. Therefore, careful physical examination, early recognition, and prompt treatment are essential for recovery of the injured limb.

  3. Syringomyelia coexisting with guillain-barre syndrome.

    Science.gov (United States)

    Kim, Hee-Sang; Yun, Dong Hwan; Chon, Jinmann; Lee, Jong Eon; Park, Min Ho; Han, Yoo Jin

    2013-10-01

    Guillain-Barre syndrome (GBS) and syringomyelia are diseases of different entities. GBS is an acute post-infectious autoimmune disease which is mediated by autoantibodies against the myelin of peripheral nerves. Syringomyelia is a chronic disease characterized by a cavity extending longitudinally inside the spinal cord. A 67-year-old man is being hospitalized due to severe numbness and ascending weakness in all limbs. On neurological examination, the motor power of all limbs are decreased and show absence of deep tendon reflexes (DTRs). The patient is being diagnosed with GBS on the basis of the acute clinical course, nerve conduction studies of segmental demyelinating polyneuropathy, and a finding of albuminocytologic dissociation in the cerebrospinal fluid. The patient is presented with a new set of symptoms thereafter, which composes of sensory changes in the upper extremities, the urinary dysfunction including frequency and residual urine, spastic bilateral lower extremities, and increased reflexes of the knee and the biceps at follow-up examinations. The spinal magnetic resonance imaging in the sagittal section revealed a syrinx cavity between the fifth cervical and the first thoracic vertebral segment in the cord. The somatosensory evoked potential show sensory pathway defects between both the brachial plexus and the brain stem. Thus, this patient is being diagnosed with both GBS and syringomyelia. We report a case of symptomatic syringomyelia coexisting with GBS. Since the GBS is presented with a progressive muscle weakness and reduced DTRs, the muscle weakness and stiffness in the extremities suggests a concurrent syringomyelia might be easily overlooked.

  4. Cannabinoid hyperemesis syndrome with extreme hydrophilia

    Directory of Open Access Journals (Sweden)

    Enuh HA

    2013-08-01

    Full Text Available Hilary A Enuh,1 Julia Chin,1 Jay Nfonoyim21Department of Medicine, 2Critical Care Unit, Richmond University Medical Center, Staten Island, NY, USAAbstract: Marijuana is the most widely used recreational drug in the US. Hyperemetic hydrophilic syndrome is a previously described but infrequently recognized condition of cannabinoid abuse with hyperemesis and obsessive hot showering. We present a 47-year-old male known marijuana addict with intractable abdominal pain who could not wait for physical examination, meal, or medication, because of obsessive compulsive warm baths. He had a history of epilepsy and addiction to marijuana, which he took on the day of admission. He presented to the hospital with a seizure, complicated by nausea, vomiting, and severe abdominal pain. His examination was unremarkable, except for mild epigastric tenderness. His laboratory and radiological tests were within normal limits, except for a positive urine drug screen for marijuana and opiates. He took himself immediately to the bathroom and remained under a hot shower with the exception of two 15-minute breaks for the rest of the day. He stated that it made him feel better than medication. Receiving medication and even eating was a problem because of this compulsive showering. Abstinence from marijuana during the hospital stay made the patient's nausea and vomiting resolve significantly. Cannabinoid hyperemesis is a differential diagnosis among patients with intractable nausea, vomiting, and obsessive hot bathing. The syndrome is an unmistakable indication of marijuana addiction. A thorough history and observation is very valuable. Recognition of this entity will reduce unnecessary testing and utilization of health care resources.Keywords: cannabinoid, compulsive bathing, cyclic vomiting, hyperemesis, hydrophilia, marijuana

  5. Revesz syndrome

    Directory of Open Access Journals (Sweden)

    Dayane Cristine Issaho

    2015-04-01

    Full Text Available Revesz syndrome is a rare variant of dyskeratosis congenita and is characterized by bilateral exudative retinopathy, alterations in the anterior ocular segment, intrauterine growth retardation, fine sparse hair, reticulate skin pigmentation, bone marrow failure, cerebral calcification, cerebellar hypoplasia and psychomotor retardation. Few patients with this syndrome have been reported, and significant clinical variations exist among patients. This report describes the first Brazilian case of Revesz syndrome and its ocular and clinical features.

  6. Gorlin syndrome

    Directory of Open Access Journals (Sweden)

    Basanti Devi

    2013-01-01

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

  7. Urofacial syndrome

    Directory of Open Access Journals (Sweden)

    Kamal F Akl

    2012-01-01

    Full Text Available The urofacial syndrome is characterized by functional obstructive uropathy asso-ciated with an inverted smile. The importance of the subject is that it sheds light, not only on the muscles of facial expression, but also on the inheritance of voiding disorders and lower urinary tract malformations. We report a 10-year-old-male patient who had the urofacial syndrome. Early diagnosis of the urofacial syndrome is important to avoid upper urinary tract damage and renal failure.

  8. Joubert Syndrome

    Science.gov (United States)

    ... syndrome is inherited in an autosomal recessive manner (meaning both parents must have a copy of ... physical, occupational, and speech therapy may benefit some children. Infants with abnormal ...

  9. Reye's Syndrome

    Science.gov (United States)

    ... that contain aspirin. Some hospitals and medical facilities conduct newborn screenings for fatty acid oxidation disorders to determine which children are at greater risk of developing Reye's syndrome. ...

  10. Angelman Syndrome

    Science.gov (United States)

    ... See More About Research The NINDS supports and conducts research on neurogenetic disorders such as Angelman syndrome, to develop techniques to diagnose, treat, ... Publications Definition Angelman ...

  11. Russell-Silver syndrome

    Science.gov (United States)

    Silver-Russell syndrome; Silver syndrome; RSS; Russell-Silver syndrome ... One in 10 children with this syndrome has a problem involving chromosome 7. In other people with the syndrome, it may affect chromosome 11. Most of the time, it ...

  12. Utility of osteosclerotic lesion biopsy in diagnosis of POEMS syndrome: A case report.

    Science.gov (United States)

    Hara, Daisuke; Akiyama, Hisanao; Nukui, Saki; Shimizu, Takahiro; Hoshikawa, Masahiro; Hasegawa, Yasuhiro

    2017-10-01

    We report a case of successful diagnosis of POEMS (polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes) syndrome based on monoclonality that was confirmed by an osteosclerotic lesion biopsy in a patient without pathognomonic symptoms or monoclonal gammopathy, probably because of comorbidities, which included systemic lupus erythematosus, rheumatoid arthritis, and Sjögren syndrome. A 57-year-old woman presented with an approximately 2-year history of numbness in the toes that had gradually spread, along with muscle weakness in both arms and legs. She had been receiving immunosuppressant and corticosteroid therapy since being diagnosed with systemic lupus erythematosus and Sjögren syndrome at the age of 31 years and rheumatoid arthritis at the age of 44 years. Neurological examination revealed predominantly distal hypoesthesia and weakness in a typical stocking-and-glove pattern. Immunoelectrophoresis revealed elevated polyclonal immunoglobulin, which was attributed to her known underlying disease. Biopsy of an osteosclerotic lesion confirmed proliferation of monoclonal plasma cells, leading to a diagnosis of POEMS syndrome. Lenalidomide therapy was started after the diagnosis and the patient had a favorable outcome. Osteosclerotic lesion biopsy can be useful for diagnosis of POEMS syndrome in difficult cases.

  13. Comparison of two treatment strategies for the early treatment of an anterior skeletal open bite : Posterior bite block-vertical pull chin cup (PBB-VPC) vs. posterior bite block-high pull headgear (PBB-HPH).

    Science.gov (United States)

    Turkkahraman, Hakan; Cetin, Ebru

    2017-07-01

    Aim of the present study was to compare the effects of posterior bite block-vertical pull chin cup (PBB-VPC) and posterior bite block-high pull headgear (PBB-HPH) in the early treatment of anterior open bite. This retrospective study was carried out using pretreatment (T1) and posttreatment (T2) lateral cephalometric radiographs of 28 patients treated with either PBB-VPC or PBB-HPH and 14 age-matched control patients with anterior open bite. The treatment changes were evaluated with 20 measurements (7 angular and 13 linear). Intergroup comparisons of the cephalometric measurements were performed by ANOVA, and a post hoc Tukey test was used to perform multiple comparisons. There was no significant difference in the open bite correction between the two treatment groups, but both groups showed significantly greater increases in overbite than the controls (P open bite. Retrusion of the upper/lower incisors and a slight increase in the upper anterior dentoalveolar height were the most evident findings in the PBB-VPC group. In the PBB-HPH group, forward maxillary growth was significantly restricted, ANB and overjet were reduced, and the upper and lower incisors were significantly retruded.

  14. [Ballantyne syndrome or mirror syndrome].

    Science.gov (United States)

    Torres-Gómez, Luis Guillermo; Silva-González, María Eugenia; González-Hernández, Rigoberto

    2010-11-01

    Ballantyne syndrome or mirror syndrome is a triad consisting of the presence of fetal hydrops, generalized edema placentomegaly mother. May be related to any cause of fetal hydrops. The fetal prognosis is poor in untreated cases, the mother has reference to be the cause or the termination of pregnancy. Present the case of a 26-year-old who developed mirror syndrome secondary to non-immune fetal hydrops of unknown origin, accompanied by preeclampsia.

  15. Antiphospholipid syndrome

    DEFF Research Database (Denmark)

    Cervera, Ricard; Piette, Jean-Charles; Font, Josep

    2002-01-01

    To analyze the clinical and immunologic manifestations of antiphospholipid syndrome (APS) in a large cohort of patients and to define patterns of disease expression.......To analyze the clinical and immunologic manifestations of antiphospholipid syndrome (APS) in a large cohort of patients and to define patterns of disease expression....

  16. Ascher syndrome

    Directory of Open Access Journals (Sweden)

    Zhifang Zhai

    2015-03-01

    Full Text Available Ascher syndrome is a rare, benign skin disorder characterized by a double upper lip, blepharochalasis, and nontoxic enlargement of the thyroid gland. The exact cause is unknown, but it is considered to be a hereditary disease with an autosomal dominant trait. We report here a case of forme fruste Ascher syndrome in a 29-year-old man.

  17. Passwell syndrome

    Directory of Open Access Journals (Sweden)

    Muhammed K

    2003-03-01

    Full Text Available There is an expanding list of syndromes that combine ichthyosis with neuroectodermal and mesodermal defects. We report a syndrome of congenital ichthyosis with atrophy, mental retardation, dwarfism, aminoaciduria, primary amenorrhoea and underdeveloped secondary sexual characters in a 38-year-old woman of non consanguinous parentage.

  18. Proteus syndrome

    Directory of Open Access Journals (Sweden)

    George Renu

    1993-01-01

    Full Text Available A case of proteus syndrome in a 20 year old male is repoted. Hemihypertrophy, asymmetric megalodactyly, linear epidermal naevus, naevus flammeus, angiokeratoma, lymphangioma circumscriptum, thickening of the palms and soles, scoliosis and varicose veins were present. There are only few reports of these cases in adults. The syndrome has not been reported from India.

  19. Lemierre's syndrome

    DEFF Research Database (Denmark)

    Johannesen, Katrine; Bødtger, Uffe; Heltberg, Ole

    2014-01-01

    Lemierre's syndrome is an often un-diagnosed disease seen in previously healthy young subjects, presenting with symptoms of pharyngitis, fever and elevated markers of inflammation. The syndrome is characterised by infectious thrombosis of the jugular vein due to infection with Fusobacteria, causing...

  20. Tourette Syndrome

    Science.gov (United States)

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

  1. Fahr's Syndrome

    Science.gov (United States)

    ... or 50s, although it can occur at any time in childhood or adolescence. × Definition Fahr's Syndrome is a rare, genetically dominant, inherited ... or 50s, although it can occur at any time in childhood or adolescence. View Full Definition Treatment There is no cure for Fahr's Syndrome, ...

  2. TAFRO Syndrome.

    Science.gov (United States)

    Igawa, Takuro; Sato, Yasuharu

    2018-02-01

    TAFRO syndrome is a newly recognized variant of idiopathic multicentric Castleman disease (iMCD) that involves a constellation of syndromes: thrombocytopenia (T), anasarca (A), fever (F), reticulin fibrosis (R), and organomegaly (O). Thrombocytopenia and severe anasarca accompanied by relatively low serum immunoglobulin levels are characteristic clinical findings of TAFRO syndrome that are not present in iMCD-not otherwise specified (iMCD-NOS). Lymph node biopsy is recommended to exclude other diseases and to diagnose TAFRO syndrome, which reveals characteristic histopathological findings similar to hyaline vascular-type CD. TAFRO syndrome follows a more aggressive course, compared with iMCD-NOS, and there is no standard treatment. Copyright © 2017 Elsevier Inc. All rights reserved.

  3. A longitudinally extensive myelopathy associated with multiple spinal arteriovenous fistulas in a patient with Cowden syndrome: a case report.

    Science.gov (United States)

    Barreras, Paula; Gailloud, Philippe; Pardo, Carlos A

    2018-01-01

    Cowden syndrome is an autosomal dominant syndrome characterized by multiple hamartomas and an increased cancer risk. It is associated with mutations in the phosphatase and tensin homologue (PTEN) gene that encodes a tumor suppressant phosphatase. The study aimed to report an unusual case of multiple spinal epidural arteriovenous fistulas in a patient diagnosed with Cowden syndrome. This is a case report. The patient is a 57-year-old woman. We report the case of a 57-year-old woman with a history of multiple cancers, with acute exacerbation of lower extremity weakness and numbness that had progressed over a month. Magnetic resonance imaging showed abnormal signal in the thoracolumbar spinal cord, with enhancement after contrast administration. A spinal angiogram confirmed the presence of multiple spinal epidural arteriovenous fistulas. Genetic testing confirmed the diagnosis of Cowden syndrome with a mutation in intron 3 of the PTEN gene. Spinal vascular malformations occur in patients with Cowden syndrome, and they can be multifocal and locally aggressive. It is important to raise the suspicion of Cowden syndrome in patients with spinal cord vascular anomalies and a history of multiple cancers, as the correct genetic diagnosis may have implications for management and cancer screening. Copyright © 2016 Elsevier Inc. All rights reserved.

  4. Anaesthesia and Freeman Sheldon Syndrome

    African Journals Online (AJOL)

    Adele

    Case 2. A 22 month old Mauritian girl, weighing 11.2kg, presented for correction of a craniofacial defect (brachycephaly). She showed similar facial features and her lips were puckered as if whistling. She also had limited mouth opening and a chin dimple(Fig 2). The neck appeared short and movement was limited ...

  5. Delayed Presentation of Gluteal Compartment Syndrome: The Argument for Fasciotomy

    Directory of Open Access Journals (Sweden)

    John E. Lawrence

    2016-01-01

    Full Text Available A male patient in his fifties presented to his local hospital with numbness and weakness of the right leg which left him unable to mobilise. He reported injecting heroin the previous morning. Following an initial diagnosis of acute limb ischaemia the patient was transferred to a tertiary centre where Computed Tomography Angiography was reported as normal. Detailed neurological examination revealed weakness in hip flexion and extension (1/5 on the Medical Research Council scale with complete paralysis of muscle groups distal to this. Sensation to pinprick and light touch was globally reduced. Blood tests revealed acute kidney injury with raised creatinine kinase and the patient was treated for rhabdomyolysis. Orthopaedic referral was made the following day and a diagnosis of gluteal compartment syndrome (GCS was made. Emergency fasciotomy was performed 56 hours after the onset of symptoms. There was immediate neurological improvement following decompression and the patient was rehabilitated with complete nerve recovery and function at eight-week follow-up. This is the first documented case of full functional recovery following a delayed presentation of GCS with sciatic nerve palsy. We discuss the arguments for and against fasciotomy in cases of compartment syndrome with significant delay in presentation or diagnosis.

  6. Outcome After Pituitary Radiosurgery for Thalamic Pain Syndrome

    International Nuclear Information System (INIS)

    Hayashi, Motohiro; Chernov, Mikhail F.; Taira, Takaomi; Ochiai, Taku; Nakaya, Kotaro; Tamura, Noriko; Goto, Shinichi; Yomo, Shoji; Kouyama, Nobuo; Katayama, Yoko; Kawakami, Yoriko; Izawa, Masahiro; Muragaki, Yoshihiro

    2007-01-01

    Purpose: To evaluate outcomes after pituitary radiosurgery in patients with post-stroke thalamic pain syndrome. Methods and Materials: From 2002 to 2006, 24 patients with thalamic pain syndrome underwent pituitary radiosurgery at Tokyo Women's Medical University and were followed at least 12 months thereafter. The radiosurgical target was defined as the pituitary gland and its connection with the pituitary stalk. The maximum dose varied from 140 to 180 Gy. Mean follow-up after treatment was 35 months (range, 12-48 months). Results: Initial pain reduction, usually within 48 h after radiosurgery, was marked in 17 patients (71%). However, in the majority of cases the pain recurred within 6 months after treatment, and at the time of the last follow-up examination durable pain control was marked in only 5 patients (21%). Ten patients (42%) had treatment-associated side effects. Anterior pituitary abnormalities were marked in 8 cases and required hormonal replacement therapy in 3; transient diabetes insipidus was observed in 2 cases, transient hyponatremia in 1, and clinical deterioration due to increase of the numbness severity despite significant reduction of pain was seen once. Conclusions: Pituitary radiosurgery for thalamic pain results in a high rate of initial efficacy and is accompanied by acceptable morbidity. It can be used as a primary minimally invasive management option for patients with post-stroke thalamic pain resistant to medical therapy. However, in the majority of cases pain recurrence occurs within 1 year after treatment

  7. CHARGE syndrome

    Directory of Open Access Journals (Sweden)

    Prasad Chitra

    2006-09-01

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

  8. Bouveret's syndrome

    International Nuclear Information System (INIS)

    Rehman, A.; Hasan, Z.; Saeed, A.; Abdullah, K.

    2008-01-01

    Gastric Outlet Obstruction (GOO) due to impaction of a gallstone in the duodenum after migration through a bilioduodenal fistula is known as Bouveret's syndrome. Its clinical symptoms are entirely vague and nonspecific. Because of its rarity, insidiousness and unpredictable symptomatology. Bouveret's syndrome is never thought of in the differential diagnosis as aetiology of gastric outlet obstruction. Recent advances in fiberoptics technology, advent of modern imaging modalities and minimally-invasive techniques like endoscopy and laparoscopy has brought a great revolution in the management of Bouveret's syndrome and have tremendously decreased morbidity and mortality associated with this rare clinical entity. (author)

  9. 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

  10. Cowden syndrome

    Directory of Open Access Journals (Sweden)

    Ravi Prakash S

    2010-01-01

    Full Text Available Cowden syndrome or multiple hamartoma syndrome is an autosomal dominant condition with variable expressions that result mainly from mutation in the PTEN gene on arm 10q. It is characterized by multiple hamartomatous neoplasms of the skin, oral mucosa, gastrointestinal tract, bones, CNS, eyes, and genitourinary tract. Mucocutaneous features include trichilemmomas, oral mucosal papillomatosis, acral keratosis, and palmoplantar keratosis. Here we present a case of Cowden syndrome in a 14-year-old female patient with the chief complaint of multiple oral papillomatous lesions.

  11. MR imaging of peripheral nervous system involvement: Parsonage-Turner syndrome.

    Science.gov (United States)

    Zara, Gabriella; Gasparotti, Roberto; Manara, Renzo

    2012-04-15

    A 55-year-old woman complained of right scapular pain, like burning, radiating down his right arm and numbness in the first three fingers of the hand. Neurologic examination showed a slight deficit of the right brachial triceps muscle. Neurophysiological assessment showed a mild involvement of the seventh right spinal root (C7). Conventional MR imaging of the cervical spine showed mild disc protrusion at level C5-C6 without spinal root compression. High resolution MR neurography with multiplanar reconstruction along the course of the right brachial plexus showed a mild increase in signal intensity and thickening of the C7 root, middle trunk and posterior cord, consistent with Parsonage-Turner Syndrome. STIR images showed increased signal intensity in the right infraspinatus muscle innervated by the suprascapular nerve. In our case, sensitivity and specificity of the new MR sequences are higher than the clinical and neurophysiological evaluations. Copyright © 2011 Elsevier B.V. All rights reserved.

  12. NTOS symptoms and mobility: a case study on neurogenic thoracic outlet syndrome involving massage therapy.

    Science.gov (United States)

    Streit, Robin S

    2014-01-01

    Neurogenic thoracic outlet syndrome (NTOS) is a neuromuscular condition affecting brachial plexus functionality. NTOS is characterized by paresthesia, pain, muscle fatigue, and restricted mobility in the upper extremity. This study quantified massage therapy's possible contribution to treatment of NTOS. A 24-year-old female with NTOS received eight treatments over 35 days. Treatment included myofascial release, trigger point therapy, cross fiber friction, muscle stripping, and gentle passive stretching. Abduction and lateral rotation at the glenohumeral (GH joint) assessments measured range of motion (ROM). A resisted muscle test evaluated upper extremity strength. The client rated symptoms daily via a visual analog scale (VAS). Findings showed improvement in ROM at the GH joint. VAS ratings revealed a reduction in muscle weakness, pain, numbness, and 'paresthesia'. Results suggest massage may be useful as part of a broad approach to managing NTOS symptoms and improving mobility. Copyright © 2013 Elsevier Ltd. All rights reserved.

  13. Premenstrual Syndrome (PMS) FAQ

    Science.gov (United States)

    ... Search FAQs Premenstrual Syndrome (PMS) Page Navigation ▼ ACOG Pregnancy Book Premenstrual Syndrome (PMS) Patient Education FAQs Premenstrual Syndrome (PMS) Patient Education Pamphlets - Spanish ...

  14. Reye's Syndrome

    Science.gov (United States)

    ... vomiting Diarrhea Reye's syndrome Symptoms & causes Diagnosis & treatment Advertisement Mayo Clinic does not endorse companies or products. ... a Job Site Map About This Site Twitter Facebook Google YouTube Pinterest Mayo Clinic is a not- ...

  15. Turner Syndrome

    Science.gov (United States)

    ... girls and women with TS may have low self- esteem, anxiety, or depression. How is Turner syndrome diagnosed? ... to active partners in their health care. This fact sheet is also available in Spanish at www. ...

  16. Alport syndrome

    Science.gov (United States)

    ... have equally severe disease. Autosomal dominant Alport syndrome (ADAS) -- This is the rarest type. Males and females ... and girls have hearing loss during childhood. With ADAS, it occurs later in life. Hearing loss usually ...

  17. Sotos Syndrome

    Science.gov (United States)

    ... and social development; hypotonia (low muscle tone), and speech impairments. Clumsiness, an awkward gait, and unusual aggressiveness or irritability may also occur. Although most cases of Sotos syndrome occur sporadically (meaning they are not known to be inherited), familial ...

  18. Potter syndrome

    Science.gov (United States)

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

  19. Alport Syndrome

    Science.gov (United States)

    ... signs and symptoms may differ, based on age, gender and inherited type of Alport syndrome. For example, ... prevention and treatment of kidney disease. The Better Business Bureau Wise Giving Alliance Charity Seal provides the ...

  20. Gilbert's Syndrome

    Science.gov (United States)

    ... doctor before taking new medications. Also, having certain types of Gilbert's syndrome may increase your risk of ... of Nondiscrimination Advertising Mayo Clinic is a not-for-profit organization ...

  1. Compartment syndrome

    Science.gov (United States)

    ... term (chronic) compartment syndrome can be caused by repetitive activities, such as running. The pressure in a compartment ... or loosened to relieve the pressure Stopping the repetitive activity or exercise, or changing the way it's done ...

  2. Aicardi Syndrome

    Science.gov (United States)

    ... See More About Research The NINDS supports and conducts research on neurogenetic disorders such as Aicardi syndrome. The goals of this research are to locate and understand ... Publications Definition Aicardi ...

  3. Zellweger Syndrome

    Science.gov (United States)

    ... swallow. Some babies will be born with glaucoma, retinal degeneration, and impaired hearing. Jaundice and gastrointestinal bleeding also may occur. Treatment There is no cure for Zellweger syndrome, nor ...

  4. Gerstmann's Syndrome

    Science.gov (United States)

    ... drawings. Frequently, there is also an impairment in reading. Children with a high level of intellectual functioning as well as those with brain damage may be affected with the disorder. × Definition Gerstmann's syndrome is a cognitive impairment that results ...

  5. Usher Syndrome

    Science.gov (United States)

    ... with age. Decline in hearing and vision varies. Children with type 3 Usher syndrome often develop hearing loss by adolescence, requiring hearing aids by mid-to-late adulthood. Night blindness also usually begins during adolescence. Blind spots appear ...

  6. Piriformis Syndrome

    Science.gov (United States)

    ... may order additional tests. Computerized tomography (CT) and magnetic resonance imaging (MRI) scans cannot diagnose piriformis syndrome, ... you are sitting, driving or standing. Don’t lift by bending over. Lift an object by bending ...

  7. Turner Syndrome

    Science.gov (United States)

    ... have an increased risk of an underactive thyroid (hypothyroidism) due to the autoimmune disorder Hashimoto's thyroiditis. They also have an increased risk of diabetes. Some women with Turner syndrome have gluten intolerance (celiac disease) or inflammatory bowel disease. Skeletal ...

  8. Reye Syndrome

    Science.gov (United States)

    ... Legacy Society Make Gifts of Stock Donate Your Car Personal Fundraising Partnership & Support Share Your Story Spread the Word Give While You Shop Contact Us Donate Now What Is Reye’s Syndrome? ...

  9. Alagille Syndrome

    Science.gov (United States)

    ... Legacy Society Make Gifts of Stock Donate Your Car Personal Fundraising Partnership & Support Share Your Story Spread the Word Give While You Shop Contact Us Donate Now Alagille Syndrome Back Alagille ...

  10. Cushing syndrome

    Science.gov (United States)

    ... mellitus High blood pressure (hypertension) Increased cholesterol and triglycerides (hyperlipidemia) Women with Cushing syndrome may have: Excess ... Wisse, MD, Associate Professor of Medicine, Division of Metabolism, Endocrinology & Nutrition, University of Washington School of Medicine, ...

  11. Working hand syndrome: A new definition of non-classified polyneuropathy condition.

    Science.gov (United States)

    Özdemir, Gökhan

    2017-06-01

    The aim of this paper was to define an unexplained non-classified polyneuropathy condition as a new neurological disease. This new diagnosis of occupation related polyneuropathy has been named as "WORKING HAND SYNDROME (WHS)."This study collected and compared clinic and electrophysiological analyze data from healthy controls, WHS patients, carpal tunnel syndrome (CTS) patients and polyneuropathy patients. The WHS patients presented to the clinic with pain, numbness, tingling, and burning sensations in their hands that increased significantly during rest and nighttime. However, there was no weakness in the muscles, and the deep tendon reflexes were normal in this disease. The patients had all been working in physically demanding jobs requiring the use of their hands/arms for at least 1 year, but no vibrating tools were used by the patients. All of the cases were men. I supposed that overload caused by an action repeated chronically by the hand/arm may impair the sensory nerves in mentioned hand/arm. In patients with these complaints, for a definitive diagnosis, similar diseases must be excluded. Nonetheless, the specific electrophysiological finding that the sural nerves are normal on the lower sides, as well as the occurrence of sensory axonal polyneuropathy in the sensory nerves without a significant effect on velocity and latency in the work-ups of the upper extremity are enough to make a diagnosis.In conclusion, WHS has been defined as a polyneuropathy and occupational disease. Patients with WHS present with pain, numbness, tingling, and burning sensations in their hands that increases significantly during rest and nighttime. They also use their arms/hands for jobs that require heavy labor. The neurological examinations of patients with WHS are normal. Only the sensory nerves in the upper extremities are affected. This article is suggested to serve as a resource for patients, health care professionals, and members of the neurology community at large.

  12. A validated method of labial minor salivary gland biopsy for the diagnosis of Sjögren's syndrome.

    Science.gov (United States)

    Kim, Jean; Sun, Daniel; Ozl, Rebecca; Grader-Beck, Thomas; Birnbaum, Julius; Akpek, Esen K; Baer, Alan N

    2016-09-01

    To validate a technique and outcomes of labial minor salivary gland biopsy (LSGB) used for the diagnosis of Sjögren's syndrome (SS). Prospective cohort study. Clinical data were prospectively obtained pre- and postbiopsy using patient-reported questionnaires. LSGB was performed using described methods. Specimens were analyzed by a pathologist with expertise in SS and assessed using established criteria to determine the focus score. Data were analyzed using cross-tabulations. Among the 58 patients in the study, 52 (90%) presented with sicca symptoms of dry eyes and/or mouth. Eight patients (14%) had histopathologic findings supportive of a diagnosis of SS. At 1 month postbiopsy, greater than 71% of patients denied any complaints of pain, swelling, numbness. or tingling. Sixteen patients (28%) had only a minor level of complaints. Only one patient complained of severe numbness at the biopsy site. Greater than 70% of patients would consider rebiopsy after the procedure, if requested by their physician. We present a safe and effective method of LSGB for the diagnosis of SS. 4 Laryngoscope, 126:2041-2046, 2016. © 2016 The American Laryngological, Rhinological and Otological Society, Inc.

  13. What is Metabolic Syndrome?

    Science.gov (United States)

    ... Research Home / Metabolic Syndrome Metabolic Syndrome What Is Metabolic syndrome is the name for a group of risk ... three metabolic risk factors to be diagnosed with metabolic syndrome. A large waistline. This also is called abdominal ...

  14. Obesity Hypoventilation Syndrome

    Science.gov (United States)

    ... Home / Obesity Hypoventilation Syndrome Obesity Hypoventilation Syndrome Also known as Pickwickian Syndrome What ... your neck is larger than normal. Complications of Obesity Hypoventilation Syndrome When left untreated, OHS can cause ...

  15. Learning about WAGR Syndrome

    Science.gov (United States)

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

  16. Toxic Shock Syndrome

    Science.gov (United States)

    ... may also be caused by toxins produced by group A streptococcus (strep) bacteria. Toxic shock syndrome has been associated ... syndrome. The syndrome can also be caused by group A streptococcus (strep) bacteria. Risk factors Toxic shock syndrome can ...

  17. Milk-alkali syndrome

    Science.gov (United States)

    Calcium-alkali syndrome; Cope syndrome; Burnett syndrome; Hypercalcemia; Calcium metabolism disorder ... Milk-alkali syndrome is almost always caused by taking too many calcium supplements, usually in the form of calcium ...

  18. What Causes Down Syndrome?

    Science.gov (United States)

    ... it? Share Facebook Twitter Pinterest Email Print What causes Down syndrome? Down syndrome is caused by a random error ... The Down Syndrome Registry . Chromosomal Changes That Can Cause Down Syndrome Research shows that three types of chromosomal changes ...

  19. Deletion of locus D15S113 in a mother and son without features of Angelman syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Michaelis, R.C.; Tarleton, J.C.; Donlon, T.A.; Simensen, R.J. [Greenwood Gneetic Center, SC (United States)] [and others

    1994-09-01

    Deletions of the proximal long arm of chromosome 15 result in Angelman syndrome when inherited from the mother and Prader-Willi syndrome when inherited from the father. The minimal critical deletion region for Angelman syndrome has been reported to include D15S74 (B1.5), D15S10 (TD3-21), and D15S113 (LS6-1). We report a mother and son who have deletions that include D15S113 but who do not have features of Angelman syndrome. D.H. is a 10-year-old white male referred for genetic evaluation due to mental retardation. He has mild to moderate mental retardation and minor dysmorphic features, including downslanting palpebral fissures, prominent nose, broad forehead, small chin, midface hypoplasia, and large ears. His mother (B.S.) has slightly downslanting palpebral fissures and a borderline intellectual deficit. Neither individual has the seizures, excessive laughter, hand clapping, ataxia or facial dysmorphism which are characteristic of Angelman syndrome. The linear order of probes mapping to 15q11-q13 is 15cen-D15S11-D15S13-D15S10-D15S113-GABRB3-D15S12-tel. The proximal border of the deletion in our patients lies between D15S10 and D15S113. The fact that these two individuals do not have Angelman syndrome, despite deletion of D15S113, suggests that the Angelman syndrome critical deletion region should be further refined to exclude the D15S113 locus. In addition, the findings of a more severe intellectual impairment in the son than in the mother suggests that the region immediately telomeric to the critical deletion region for Angelman syndrome may contain imprintable genes that influence intellectual function.

  20. Pfeiffer syndrome

    Directory of Open Access Journals (Sweden)

    Fryns Jean-Pierre

    2006-06-01

    Full Text Available Abstract Pfeiffer syndrome is a rare autosomal dominantly inherited disorder that associates craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly on hands and feet. Hydrocephaly may be found occasionally, along with severe ocular proptosis, ankylosed elbows, abnormal viscera, and slow development. Based on the severity of the phenotype, Pfeiffer syndrome is divided into three clinical subtypes. Type 1 "classic" Pfeiffer syndrome involves individuals with mild manifestations including brachycephaly, midface hypoplasia and finger and toe abnormalities; it is associated with normal intelligence and generally good outcome. Type 2 consists of cloverleaf skull, extreme proptosis, finger and toe abnormalities, elbow ankylosis or synostosis, developmental delay and neurological complications. Type 3 is similar to type 2 but without a cloverleaf skull. Clinical overlap between the three types may occur. Pfeiffer syndrome affects about 1 in 100,000 individuals. The disorder can be caused by mutations in the fibroblast growth factor receptor genes FGFR-1 or FGFR-2. Pfeiffer syndrome can be diagnosed prenatally by sonography showing craniosynostosis, hypertelorism with proptosis, and broad thumb, or molecularly if it concerns a recurrence and the causative mutation was found. Molecular genetic testing is important to confirm the diagnosis. Management includes multiple-staged surgery of craniosynostosis. Midfacial surgery is performed to reduce the exophthalmos and the midfacial hypoplasia.

  1. Compartment syndromes

    Science.gov (United States)

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

    1989-01-01

    The compartment syndrome is defined as a condition in which high pressure within a closed fascial space (muscle compartment) reduces capillary blood perfusion below the level necessary for tissue viability'. This condition occurs in acute and chronic (exertional) forms, and may be secondary to a variety of causes. The end-result of an extended period of elevated intramuscular pressure may be the development of irreversible tissue injury and Volkmann's contracture. The goal of treatment of the compartment syndrome is the reduction of intracompartmental pressure thus facilitating reperfusion of ischaemic tissue and this goal may be achieved by decompressive fasciotomy. Controversy exists regarding the critical pressure-time thresholds for surgical decompression and the optimal diagnostic methods of measuring intracompartmental pressures. This paper will update and review some current knowledge regarding the pathophysiology, aetiology, diagnosis, and treatment of the acute compartment syndrome.

  2. Fraser syndrome

    DEFF Research Database (Denmark)

    Barisic, Ingeborg; Odak, Ljubica; Loane, Maria

    2013-01-01

    Fraser syndrome is a rare autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, laryngeal, and urogenital malformations. We present a population-based epidemiological study using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network...... of birth defect registries. Between January 1990 and December 2008, we identified 26 cases of Fraser syndrome in the monitored population of 12,886,464 births (minimal estimated prevalence of 0.20 per 100,000 or 1:495,633 births). Most cases (18/26; 69%) were registered in the western part of Europe, where...... was particularly high (42%). Most cases of Fraser syndrome (85%) are suspected prenatally, often due to the presence of the association of renal agenesis and cryptophthalmos. In the European population, a high proportion (82%) of pregnancies is terminated, thus reducing the live birth prevalence to a third...

  3. Dressler Syndrome

    Directory of Open Access Journals (Sweden)

    Erkan Ceylan

    2016-02-01

    Full Text Available Dressler Syndrome (DS is a febrile illness secondary to an inflammatory reaction involving the pleura and pericardium. It is more common in patients who have undergone surgery that involves opening the pericardium. However, DS has also been described following myocardial infarction and as an unusual complication after percutaneous procedures such as coronary stent implantation, after implantation of epicardial pacemaker leads and transvenous pacemaker leads, and following blunt trauma, stab wounds, and heart puncture. Pericardial effusions often accompany the syndrome and may develop into early or late postoperative cardiac tamponade and even recurrent cardiac tamponade. The syndrome is also characterized by pericardial or pleuritic pain, pleural effusions, pneumonitis, and abnormal ECG and radiography findings.

  4. BRUGADA SYNDROME

    Directory of Open Access Journals (Sweden)

    Tomislav Kostić

    2015-06-01

    Full Text Available In 1992, Brugada syndrom was introduced as a new clinical entity linking typical but variable ST segment changes in the right precordial leads to an increased vulnerability for lethal ventricular arrhythmias. The diagnosis of Brugada syndrome is based on clinical and electrocardiographic features. Recent studies illustrate the dynamic character of these ECG patterns. Whenever a large number of baseline ECGs was available during a follow-up, the diagnostic pattern could be documented only in approximately 25% of the tracings. Because the presence of the spontaneous coved type I ECG pattern is thought to be a useful predictor of future arrhythmic events in asymptomatic patients, these findings are of great clinical importance. ICD implantation is an option for the patients with Brugada syndrome and ventricular tachycardia or fibrillation. Extensive research is ongoing to find alternative pharmacological options for these patients, especially for patients in whom ICD implantation is contraindicated for various reasons.

  5. Eagle's Syndrome

    Directory of Open Access Journals (Sweden)

    Pinheiro, Thaís Gonçalves

    2014-01-01

    Full Text Available 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 difficult, and it is generally confounded by other manifestations of cervicopharyngeal pain. Objective: To describe a case of Eagle's syndrome. Case Report: A 53-year-old man reported lateral pain in his neck that had been present for 30 years. Computed tomography (CT of the neck showed elongation and ossification of the styloid processes of the temporal bone, which was compatible with Eagle's syndrome. Surgery was performed for bilateral resection of the stylohyoid ligament by using a transoral and endoscopic access route. The patient continued to present pain laterally in the neck, predominantly on his left side. CT was performed again, which showed elongation of the styloid processes. The patient then underwent lateral cervicotomy with resection of the stylohyoid process, which partially resolved his painful condition. Final Comments: Patients with Eagle's syndrome generally have a history of chronic pain. Appropriate knowledge of this disease is necessary for adequate treatment to be provided. The importance of diagnosing this uncommon and often unsuspected disease should be emphasized, given that correct clinical-surgical treatment is frequently delayed. The diagnosis of Eagle's syndrome is clinical and radiographic, and the definitive treatment in cases of difficult-to-control pain is surgical.

  6. Eagle syndrome

    International Nuclear Information System (INIS)

    Raina, Deepika; Gothi, Rajesh; Rajan, Sriram

    2009-01-01

    Eagle syndrome occurs due to elongation of the styloid process or calcification of the stylohyoid ligament, which then may produce a pain sensation due the pressure exerted on various structures in the head and neck. When suspected, imaging helps in identifying the abnormally elongated styloid process or the calcified ligament. In recent years, three-dimensional CT (3DCT) has proved to be valuable in these cases. We report the case of a 62-year-old man with this syndrome in whom imaging with 3DCT conclusively established the diagnosis

  7. Lemierre's syndrome.

    LENUS (Irish Health Repository)

    O'Dwyer, D N

    2012-02-01

    Lemierre\\'s syndrome is a rare disease that results in an oropharyngeal infection, which precipitates an internal jugular vein thrombosis and metastatic infection. Fusobacterium necrophorum is an anaerobic Gram-negative bacillus and has been identified as the causative agent. We describe the case of a young girl whose presentation and diagnosis were confounded by a history of valvular heart disease. Infection of heart valves can produce many of the signs and symptoms associated with Lemierre\\'s syndrome. We describe the diagnosis, investigation and optimal management of this rare disorder.

  8. Olmsted syndrome

    Directory of Open Access Journals (Sweden)

    Kumar Pramod

    2008-01-01

    Full Text Available Olmsted syndrome is a rare disorder characterized by the combination of periorificial, keratotic plaques and bilateral palmoplantar keratoderma. New associated features are being reported. Olmsted syndrome is particularly rare in a female patient, and we report such a case in a six year-old Indian girl, who presented with keratoderma of her soles since birth and on her palms since the age of two years along with perioral and perinasal hyperkeratosis. She had sparse, light brown, thin hair. Although the psychomotor development of the child was normal until 18 months of age, the keratoderma plaques had restricted the child′s mobility after that stage.

  9. Rapunzel syndrome

    International Nuclear Information System (INIS)

    Al-Wadan, Ali H.; Al-Saai, Azan S.; Abdoulgafour, Mohamed; Al-Absi, Mohamed

    2006-01-01

    An 18-year-old single female patient, presented with non specific gastrointestinal symptoms of anorexia, abdominal pain, and change in bowel habit. Clinically she was anemic, cachectic, and depressed. Abdominal examination revealed mobile epigastric mass. The scalp alopecia and endoscopy coupled by computed tomography scan, confirmed the diagnoses of trichobezoar, but it was not diagnosed as Rapunzel syndrome except after laparotomy, gastrotomy, and enterotomy. There are less than 16 cases of Rapunzel syndrome described worldwide, and this is the first case to be described in the middle east. (author)

  10. Fenton's syndrome

    International Nuclear Information System (INIS)

    Rimondi, E.; Albasini, V.

    1989-01-01

    The authors report two recent cases of Fenton's syndrome, a very rare carpal fracture-dislocation. After some anatomophysiopathological considerations and a review of the literature, a wider nosographic frame is proposed in which the entity of the dislocation of the head of capitate bone is not essential. According to both the literature and personal findings, the authors remark that this syndrome is always found in the presence of two morphological variants of the distal radioulnar joint. Finally, the authors stress the importance of a corect diagnosis of this lesion to avoid unnecessary attempts of reduction

  11. Waardenburg syndrome

    Directory of Open Access Journals (Sweden)

    Tagra Sunita

    2006-01-01

    Full Text Available Waardenburg syndrome is a rare inherited and genetically heterogenous disorder of neural crest cell development. Four distinct subtypes showing marked interfamilial and intrafamilial variability have been described. We report a girl showing constellation of congenital hearing impairment with 110 dB and 105 dB loss in right and left ear respectively, hypoplastic blue iridis, white forelock, dystopia canthorum and broad nasal root. Other affected relatives of the family, with variable features of the syndrome, have been depicted in the pedigree.

  12. Morbihan syndrome

    Directory of Open Access Journals (Sweden)

    Stefano Veraldi

    2013-01-01

    Full Text Available We report a case of severe Morbihan syndrome (chronic erythematous edema of the upper portion of the face in a 60-year-old man. The syndrome was characterized clinically by erythematous edema involving the forehead, glabella, and both eyelids, because of which the patient was not able to open completely his eyes. Furthermore, erythema and telangiectasiae were visible on the nose and cheeks. Laboratory and instrumental examinations were within normal ranges or negative. Histopathological examination showed dermal edema, perivascular and periadnexal lympho-histiocytic infiltrate, and sebaceous gland hyperplasia. Oral isotretinoin was ineffective despite the relatively long duration of the therapy (26 weeks.

  13. Joubert syndrome

    International Nuclear Information System (INIS)

    Villanua, J.A.; Lopez, J.M.; Recondo, J.A.; Garcia, J.M.; Gaztanaga, R.

    1998-01-01

    Joubert syndrome is a rare malformation of the posterior fossa, mainly affecting the cerebellar vermis, which generally appears as a dysplastic lesion. Other structures of the cervico medullary junction may be involved, with accompanying brainstem hypoplasia according to neuroimaging studies. The diagnosis is usually reached during, childhood, based on a constellation of changes in the child's neurological development that are supported by the results of imaging studied. Respiratory problems are the most common signs in newborns,leading to the suspicion of the presence of this syndrome. (Author) 11 refs

  14. Lemierre's syndrome

    International Nuclear Information System (INIS)

    Gong, J.; Garcia, J.

    1999-01-01

    Postanginal sepsis, or Lemierre's syndrome, is rare but with life-threatening potential involving mainly infants and adolescents. The morbidity or mortality is caused mainly by lack of knowledge of the syndrome. The 18-year-old boy described here developed a jugular thrombosis 7 days after an angina. Fusobacterium necrophorum was isolated from the culture of the excised jugular vein. Secondary embolism involved the lungs, associated with an iliac osteomyelitis and sacroiliitis. Computed tomography was used for diagnosis and follow-up. (orig.)

  15. Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Ramachandran Sudarshan

    2012-08-01

    Full Text Available Turner syndrome is a genetic disorder that affects mostly females. Affected females have characteristic features such as short stature, premature ovarian failure, and several other features. Oral manifestations of this condition are not much discussed in the literature. But reported literature includes teeth, palate, periodontal and salivary changes. So the aim of this review is to illustrate the general manifestations, and especially the oral manifestations of Turner syndrome and evaluate their possible management. [Archives Medical Review Journal 2012; 21(4.000: 246-252

  16. Extensive lipoma in chin region. Case report

    Directory of Open Access Journals (Sweden)

    Carlos Victor Ferrereira Bissonho

    Full Text Available Introduction: Lipomas consist of benign tumors of mesenchymal origin that may be found in locations where adipose tissue is normally present. The most common locations for these tumors are the trunk and the end-points of the extremities. However, these tumors may occur in the oral cavity. Objective: The present study conducts a brief review of the literature on oral lipoma (OL and reports a clinical case. Material and Method: Surgical treatment of a patient with swelling in the region of the jugal mucosa was performed for the present study. Result and conclusion: The present study presents a clinical case of a lipoma, as well as the satisfactory treatment of the case with no recurrence of the tumor.

  17. O Segredo do Capitalismo Chinês

    Directory of Open Access Journals (Sweden)

    Manuel Amaral Bueno

    2015-12-01

    Full Text Available The aim of this article is to present a critical reading of the bibliography regarding the social costs of the reform process in China in the last three decades, focusing on the conditions of migrant workers. First, we exam the Chinese household registration system and its consequences. Second, we present a comparison of labor conditions in China and Vietnam, and an analysis by Ching Kwan Lee on the different forms of workers’ resistance. Finally, we discuss the most recent trends related to working conditions in China.

  18. Carpal tunnel syndrome, syndrome of partial thenar atrophy, and W. Russell Brain: a historical perspective.

    Science.gov (United States)

    Boskovski, Marko T; Thomson, J Grant

    2014-09-01

    This article presents the history of the discovery of compression of the median nerve in the carpal tunnel without an identifiable cause as a distinct clinical entity. By analyzing primary sources, we show that, at the beginning of the twentieth century, physicians described patients with paresthesias and numbness in the hands, most prominent at night, accompanied by bilateral symmetrical atrophy along the radial side of thenar eminence. At the time, the 2 most influential hypotheses regarding etiology were, first, compression of the lower trunk of the brachial plexus by a cervical or first rib, and second, compression of the thenar branch of the median nerve as it passes beneath the anterior annular ligament of the wrist. The condition was named syndrome of partial thenar atrophy and was considered a distinct clinical entity. In 1946, after extensive analysis, neurologist Walter Russell Brain concluded that both sensory and motor symptoms of the syndrome were caused by "compression neuritis" of the median nerve in the carpal tunnel. At his suggestion, surgeon Arthur Dickson Wright performed decompression of the nerve by "an incision of the carpal ligament," with excellent results. Brain presented this work at the Royal Society of Medicine in London in 1946 and published his landmark paper in Lancet the following year. In so doing, he established the basis for the disease we know today as idiopathic carpal tunnel syndrome. Unfortunately, in 1947, Brain did not realize that another "condition" with the same clinical picture but without atrophy of the thenar muscles, known as acroparesthesia at the time, was actually the same disease as syndrome of partial thenar atrophy, but of lesser severity. As a result of Brain's influence, 7 other papers were published by 1950. Between 1946 and 1950, there were at least 10 papers that presented, in total, 31 patients (26 women) who exhibited symptoms of compression of the median nerve without an identifiable cause and underwent

  19. Problema do carteiro chinês: escolha de métodos de solução e análise de tempos computacionais Chinese Postman Problem: solution methods choice and computational time analysis

    Directory of Open Access Journals (Sweden)

    Moacir Godinho Filho

    2006-12-01

    Full Text Available O presente trabalho trata do problema do carteiro chinês (CPP. Primeiramente, por meio da estruturação e análise de uma revisão bibliográfica, propõe-se um algoritmo para auxiliar na escolha de métodos adequados a fim de se resolver o CPP. Em seguida, o algoritmo desenvolvido é utilizado na escolha de métodos para resolução do CPP em dois casos reais. O trabalho também verifica se, nos problemas práticos de logística urbana estudados, é válida uma premissa citada na literatura de que a complexidade do CPP com uma única entidade em problemas mistos é muito maior do que para problemas direcionados e não direcionados. Para isto, são selecionados casos reais de coleta de lixo e correios em uma cidade do interior paulista. Este trabalho conclui que, para problemas extraídos de situações logísticas reais, inexistem significativas diferenças entre o tempo computacional para a resolução dos modelos matemáticos com vistas à obtenção de grafos eulerianos não direcionados, direcionados e mistos.This work deals with Chinese Postman Problem (CPP. First, this paper, based on structuring and analyzing a CPP literature review, proposes an algorithm to help choosing suitable methods to solve CPP. The proposed algorithm is used on two real-world cases. This paper also verifies if in real urban logistics cases it is valid the assumption that the obtaining the optimal solution for the mixed 1 vehicle CPP is more difficult than directed and undirected cases. To accomplish this goal real-world cases are selected (household refuse collection and postal service. This work concludes that for real-world situations there are no significant differences on computational time between directed, undirected and mixed CPP.

  20. Indeterminate cauda equina syndrome: A case report.

    Science.gov (United States)

    Douraiswami, Balaji; Muthuswamy, Kumanan; Naidu, Dilip Kumar; Thanigai, Sriram; Anand, Vijay

    2016-01-01

    The presentation of cauda equina syndrome (CES) varies from its classical presentation, especially in its early stages of compression. We present a case of lumbar disc prolapse causing CES in an uncharacteristic way, knowledge of which is essential for orthopaedicians to diagnose this condition early and prevent neurological complications. A 32-year-old male patient presented to us with complaints of inability to lift his left ankle and numbness over his left leg and ankle for 14 days. Clinical examination showed involvement of left L3, L4, L5 and S1 nerve roots as evidenced by weakness of quadriceps, extensor hallucis longus, extensor digitorum longus muscles and tendo achilles. Knee jerk was absent. The opposite lower limb was normal and there was no evidence of bowel bladder involvement or saddle anaesthesia. The MRI showed L2 L3 posterocentral disc prolapse compressing the cauda equina. The patient underwent laminectomy and discectomy. Post-operatively, the patient showed significant improvement in his sensory symptoms with complete recovery of motor power in 12 weeks. In contrast to the classical presentation of CES, several case series have been reported with varied clinical manifestations like unilateral leg symptomatology, unilateral or bilateral saddle anaesthesia with or without leg symptoms and CES with complete absence of signs and symptoms in the lower limbs. The disc prolapse in our case at L2-L3 level has compressed the left-sided L3, L4, L5 roots with minimal compression of S1. The classical features of CES would have occurred due to the lateral shift of the cauda equina in our case but for our early diagnosis and intervention.

  1. Marfan syndrome masked by Down syndrome?

    NARCIS (Netherlands)

    Vis, J.C.; Engelen, K. van; Timmermans, J.; Hamel, B.C.J.; Mulder, B.J.

    2009-01-01

    Down syndrome is the most common chromosomal abnormality. A simultaneous occurrence with Marfan syndrome is extremely rare. We present a case of a 28-year-old female with Down syndrome and a mutation in the fibrillin-1 gene. The patient showed strikingly few manifestations of Marfan syndrome.

  2. Gitelman syndrome.

    NARCIS (Netherlands)

    Knoers, N.V.A.M.; Levtchenko, E.N.

    2008-01-01

    Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion. The prevalence is estimated at approximately 1:40,000 and accordingly, the prevalence

  3. Dravet Syndrome

    Science.gov (United States)

    ... but can be reduced by anticonvulsant drugs. A ketogenic diet, high in fats and low in carbohydrates, also may be beneficial. View Full Treatment Information Definition Dravet syndrome, also called severe myoclonic epilepsy of infancy (SMEI), is a severe form of ...

  4. Kartagener's Syndrome.

    Science.gov (United States)

    Dhar, D K; Ganguly, K C; Alam, S; Hossain, A; Sarker, U K; Das, B K; Haque, M J

    2009-01-01

    Kartagener's Syndrome or Immotile Cilia Syndrome, a variant of Primary Ciliary Dyskinesia (PCD), is a rare autosomal recessive genetic disorder caused by defect in the tiny hair like structure, the cilia lining the respiratory tract (upper and lower), sinuses, eustachian tubes, middle ear and fallopian tubes. Here electron microscopy shows abnormal arrangement of ciliary tubules and patients with Kartagener's syndrome has an absence of dynein arms at the base of the cilia. The inability of cilia to move results in inadequate clearance of bacteria from the air passages, resulting in an increased risk of infection and causing bronchiectasis. Another result of ciliary immobility is infertility. A 60 years old lady was diagnosed as a case of Kartagener's syndrome. She had history of chronic cough for 20 years, irregular fever for 20 years and occasional shortness of breath for 5 years. Relevant investigations revealed dextrocardia, situs inversus, bilateral maxillary sinusitis with non pneumatised frontal sinus and bronchiectasis. She was treated with low concentration oxygen inhalation, antibiotic, bronchodilator, chest physiotherapy including postural drainage, vitamins and other supportive treatment.

  5. Barth Syndrome

    DEFF Research Database (Denmark)

    Saric, Ana; Andreau, Karine; Armand, Anne-Sophie

    2016-01-01

    , liver and skeletal muscle of patients have revealed mitochondrial malformations and dysfunctions. It is the purpose of this review to summarize recent results of studies on various animal or cell models of Barth syndrome, which have characterized biochemically the strong cellular defects associated...

  6. Proteus syndrome

    Directory of Open Access Journals (Sweden)

    Debi Basanti

    2005-01-01

    Full Text Available Proteus syndrome is a variable and complex disorder characterized by multifocal overgrowths affecting any tissue or structure of the body. We present a girl aged 3 years and 8 months with an epidermal nevus, port-wine stain, macrodactyly with gigantism of the feet, lymphohemagiomas and multiple lipomas.

  7. Sjogren syndrome

    NARCIS (Netherlands)

    Brito-Zeron, Pilar; Baldini, Chiara; Bootsma, Hendrika; Bowman, Simon J.; Jonsson, Roland; Mariette, Xavier; Sivils, Kathy; Theander, Elke; Tzioufas, Athanasios; Ramos-Casals, Manuel

    2016-01-01

    Sjogren syndrome (SjS) is a systemic autoimmune disease that primarily affects the exocrine glands (mainly the salivary and lacrimal glands) and results in the severe dryness of mucosal surfaces, principally in the mouth and eyes. This disease predominantly affects middle-aged women, but can also be

  8. Goldenhar syndrome

    African Journals Online (AJOL)

    operational on the derivatives of the first and second bran- chial arches and clefts before the end of the organogenetic period (7'h or 8'h week of embryonic life)? ..... Marshman WE, Schalit G, Jones RB, Lee JP, Mathews TD and McCabe S: Congenital anomalies in patients with Duane retraction syndrome and their relatives.

  9. Rett Syndrome.

    Science.gov (United States)

    Culbert, Linda A.

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

  10. Nodding Syndrome

    Centers for Disease Control (CDC) Podcasts

    2013-12-19

    Dr. Scott Dowell, a CDC director, discusses the rare illness, nodding syndrome, in children in Africa.  Created: 12/19/2013 by National Center for Emerging and Zoonotic Infectious Diseases (NCEZID).   Date Released: 1/27/2014.

  11. Metabolic syndrome

    Science.gov (United States)

    ... gov/pubmed/26718656 . Ruderman NB, Shulman GI. Metabolic syndrome. In: Jameson JL, De Groot LJ, de Kretser DM, et al, eds. Endocrinology: Adult and Pediatric . 7th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 43. Review ... NIH MedlinePlus Magazine Read more Health ...

  12. Stickler Syndrome

    Science.gov (United States)

    ... tongue to drop back toward the throat. Blindness. Blindness can occur if retinal detachments aren't repaired promptly. Ear infections. Children with facial structure abnormalities associated with Stickler syndrome are more likely to develop ear infections than are children with normal facial ...

  13. Gorlin syndrome

    African Journals Online (AJOL)

    develop medulloblastomas and are treated with radiation, it is mandatory that they be monitored for the development of BCCs in the radiation field. Management of a patient or family with this syndrome should include genetic counselling and neurological evaluations to detect medulloblastoma until the age of 7, after which ...

  14. Kartagener's Syndrome

    African Journals Online (AJOL)

    GB

    presenting with recurrent upper and lower respiratory tract infections, sinusitis or bronchiectasis. Inability to diagnose this condition may subject the patient to unnecessary and repeated hospital admissions, investigations and treatment failure. KEY WORDS: Kartagener's syndrome, primary cilliary dyskinesia, situs inversus, ...

  15. Kounis syndrome

    African Journals Online (AJOL)

    Kounis syndrome is charac terised by a group of symp toms that manifest as unsta ble vasospastic or nonvaso spastic angina secondary to a hypersensitivity reaction.[1] It was first described by. Kounis and Zavras in 1991[2] as the concurrence of an allergic response with an anaphylactoid or anaphylactic reaction and ...

  16. Orthopedic Lesions in Tethered Cord Syndrome: The Importance of Early Diagnosis and Treatment on Patient Outcome

    Directory of Open Access Journals (Sweden)

    Mohammad Gharedaghi

    2014-06-01

    Full Text Available Background:   Many of the patients with tethered cord syndrome (TCS are admitted because of neurological symptoms, while some are admitted because of their orthopedic, urologic, anorectal, and dermatologic manifestations.Consequently, this study aimed to evaluate the importance of early diagnosis and treatment of tethered cord syndrome on patient outcome. Methods: Fourty-three patients who underwent surgery because of tethered cord syndrome from 2006 to 2010 were studied. Many of these cases were referred by orthopedic surgeons. All of the findings were recorded and follow up was done twice (1 and 3 years after surgery. Results: Thirty-seven patients were less than 7 years old and 6 were between 17 to 33 years old. According to clinical and neurological exams, satisfactory results were achieved in both groups. Those with early surgical intervention, especially in their early follow up assessment, had the best results. Seventeen cases were referred by an orthopedic surgeon because of manifestations such as leg weakness and numbness, leg pain and spasticity, pes cavus, claw toes, and leg or foot length discrepancy. Cerebrospinal fluid leakage occurred in 3 cases after surgery and 1 showed pseudomeningocele formation. Conclusions: After one year of follow up, initially the results of the treatment were better in early operated cases, but in later follow up assessment (after 3 years the results were almost the same in both of the groups.

  17. Cauda Equina Syndrome Secondary to Leptomeningeal Carcinomatosis of Gastroesophageal Junction Cancer

    Directory of Open Access Journals (Sweden)

    Amal Alkhotani

    2016-04-01

    Full Text Available Leptomeningeal carcinomatosis (LMC is a diffuse or multifocal malignant infiltration of the pia matter and arachnoid membrane. The most commonly reported cancers associated with LMC are breast, lung, and hematological malignancies. Patients with LMC commonly present with multifocal neurological symptoms. We report a case of LMC secondary to gastroesophageal junction cancer present initially with cauda equina syndrome. A 51-year-old male patient with treated adenocarcinoma of the gastroesophageal junction presented with left leg pain, mild weakness, and saddle area numbness. Initial radiological examinations were unremarkable. Subsequently, he had worsening of his leg weakness, fecal incontinence, and urine retention. Two days later, he developed rapidly progressive cranial neuropathies including facial diplegia, sensorineural hearing loss, dysarthria, and dysphagia. MRI with and without contrast showed diffuse enhancement of leptomeninges surrounding the brain, spinal cord, and cauda equina extending to the nerve roots. Cerebrospinal fluid cytology was positive for malignant cells. The patient died within 10 days from the second presentation. In cancer patients with cauda equina syndrome and absence of structural lesion on imaging, LMC should be considered. To our knowledge, this is the first case of LMC secondary to gastroesophageal cancer presenting with cauda equina syndrome.

  18. [Electroneurographic monitoring during the test of artificial compression as a method of early diagnosis of carpal tunnel syndrome].

    Science.gov (United States)

    Bahtereva, E V; Shirokov, V A; Leiderman, E L; Varaksin, A N; Panov, V G

    To develop the algorithm of early diagnosis of carpal tunnel syndrome (CTS) at the stage of functional neurological disturbances by expanding diagnostic possibilities of electroneuromyography using artificial compression test. Parameters of conductivity of the median nerve in 54 patients with finger numbness were analyzed during 3 months before and after compression of the forearm (blood pressure was measured for 1 min). An increase in the latency in motor fibers and a decrease in the amplitude of sensory response were identified in patients with CTS signs and normal electroneuromyographical parameters at baseline. The use of additional electroneuromyographical monitoring during the provocative artificial compression test expands the possibilities of this method and improves early diagnosis of CTS.

  19. Marfan Syndrome (For Teens)

    Science.gov (United States)

    ... Staying Safe Videos for Educators Search English Español Marfan Syndrome KidsHealth / For Teens / Marfan Syndrome What's in this ... a genetic disorder called Marfan syndrome. What Is Marfan Syndrome? Marfan syndrome is named after Antoine Marfan, the ...

  20. The Source for Syndromes.

    Science.gov (United States)

    Richard, Gail J.; Hoge, Debra Reichert

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

  1. Acute Respiratory Distress Syndrome Associated With Rabies: A Case Report

    Directory of Open Access Journals (Sweden)

    Yung-Hsiang Hsu

    2006-02-01

    Full Text Available Acute respiratory distress syndrome (ARDS is the first potentially lethal complication in rabies virus infection, although its occurrence is rare. We report on a fatal case of rabies virus infection in a 45-year-old woman from Hu-Nan Province, China. The neurologic signs of limb numbness and water phobia occurred from 61 days after the dog bite; the clinical course was progressive, with the most severe clinical manifestations being fever, encephalitis, and ARDS. The woman expired 12 days after admission to the hospital. An autopsy proved rabies encephalitis, mainly involving the medulla oblongata, the thalamus, part of the pons, the cerebellum, and the hippocampus. The lung pathologic examination revealed the organizing phase of ARDS with diffuse alveolar damage, hyaline membrane formation, type II alveolar cell hyperplasia accompanied by proliferation of fibroblasts and infiltration of mononuclear cells into the interstitial space. Immunohistochemistry stain and reverse transcription-polymerase chain reaction for rabies virus failed to demonstrate the organism in the lung tissue. Strong expression of inducible nitric oxide synthase (iNOS was detected in the alveolar macrophages. An immunologic mechanism with iNOS expression in the absence of direct invasion of the organism may participate in the pathogenesis of ARDS associated with rabies.

  2. Apert syndrome

    Directory of Open Access Journals (Sweden)

    Premalatha

    2010-01-01

    Full Text Available Apert syndrome (acrocephalosyndactyly is a rare developmental malformation characterized by craniosynostosis, mid-face hypoplasia, symmetrical syndactyly of hands and feet. The prodromal characteristics for the typical cranio-facial appearance are early craniosynostosis of the coronal suture, cranial base and agenesis of the sagittal suture. The purpose of this paper is to report a case of Apert syndrome with emphasis on craniofacial and oral features in an eighteen-month-old male child. The patient presented with several craniofacial deformities, including brachycephaly, midface hypoplasia, flat face, hypertelorism, ocular proptosis, downslanting palpebral fissures. Syndactylies with osseous fusion of the hands and feet were also observed. Intraoral findings included delayed eruption of teeth, high arched palate with pseudo cleft in the posterior one third.

  3. Hepatorenal Syndrome

    Directory of Open Access Journals (Sweden)

    Ebru Yilmaz

    2014-06-01

    Full Text Available Hepatorenal syndrome (HRS is functional renal failure that occurs with advanced liver failure. HRS is considered the most severe complication of cirrhosis. Type 1 HRS develops due to severe reduction of effective circulating volume results in hemodynamic dysfunction. Type 1 HRS is characterized by acute renal failure and rapid deterioration in the function of other organs. It can ocur spontaneously or in the setting of a precipitating event. Type 2 hepatorenal syndrome (HRS, which is characterized by slowly progressive renal failure and refractory ascites. Liver transplantation is the only definitive treatment for both type. The most suitable and ldquo;bridge treatments and rdquo; or treatment for patients ineligible for a liver transplant include terlipressin plus albumin. [J Contemp Med 2014; 4(2.000: 106-113

  4. Paraneoplastic syndromes

    Energy Technology Data Exchange (ETDEWEB)

    Weller, R.E.

    1994-03-01

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

  5. Pearson syndrome.

    Science.gov (United States)

    Farruggia, Piero; Di Marco, Floriana; Dufour, Carlo

    2018-03-01

    Pearson syndrome (PS) is a sporadic and very rare syndrome classically associated with single large-scale deletions of mitochondrial DNA and characterized by refractory sideroblastic anemia during infancy. Areas covered: This review presents an analysis and interpretation of the published data that forms the basis for our understanding of PS. PubMed, Google Scholarand Thompson ISI Web of Knowledge were searched for relevant data. Expert commentary: PS is a very rare mitochodrial disease that involves different organs and systems. Clinical phenotype is extremely variable and may change over the course of disease itself with the possibility both of worsenings and improvements. Outcome is invariably lethal and at the moment no cure is available. Accurate supportive treatment and follow up program in centres with experience in mitochondrial diseases and marrow failure may positively influence quality and duration of life.

  6. Otodental syndrome

    Directory of Open Access Journals (Sweden)

    Bloch-Zupan Agnès

    2006-03-01

    Full Text Available Abstract The otodental syndrome also named otodental dysplasia, is characterised by a striking dental phenotype known as globodontia, associated with sensorineural high frequency hearing loss and eye coloboma. Globodontia occurs in both primary and permanent dentition, affecting canine and molar teeth (i.e. enlarged bulbous malformed posterior teeth with almost no discernable cusps or grooves. The condition appears to be inherited in an autosomal dominant mode, although sporadic cases have been reported. It is a rare disease, a few families have been described in the literature. In the British family, the locus for oculo-oto-dental syndrome was mapped to 20q13.1 within a 12-cM critical chromosomal region. Dental management is complex, interdisciplinary and will include regular follow up, scheduled teeth extraction and orthodontic treatment. Hearing checks and, if necessary, hearing aids are mandatory, as well as eye examination and ad hoc treatment if necessary.

  7. Antiphospholipid syndrome.

    Science.gov (United States)

    Cervera, Ricard

    2017-03-01

    The antiphospholipid syndrome (APS) is defined by the development of venous and/or arterial thromboses, often multiple, and pregnancy morbidity (mainly, recurrent fetal losses), in the presence of antiphospholipid antibodies (aPL). Some estimates indicate that the incidence of the APS is around 5 new cases per 100,000 persons per year and the prevalence around 40-50 cases per 100,000 persons. The aPL are positive in approximately 13% of patients with stroke, 11% with myocardial infarction, 9.5% of patients with deep vein thrombosis and 6% of patients with pregnancy morbidity. Currently, there is consensus in treating APS patients with thrombosis with long-term oral anticoagulation and to prevent obstetric manifestations with the use of aspirin and heparin. This review summarizes the main knowledge on the clinical and therapeutic aspects of this syndrome. © 2017 Elsevier Ltd. All rights reserved.

  8. Dravet syndrome

    Directory of Open Access Journals (Sweden)

    Incorpora Gemma

    2009-09-01

    Full Text Available Abstract "Dravet syndrome" (DS previously named severe myoclonic epilepsy of infancy (SMEI, or epilepsy with polymorphic seizures, is a rare disorder characterized by an early, severe, generalized, epileptic encephalopathy. DS is characterized by febrile and afebrile seizures beginning in the 1st year of life followed by different types of seizures (either focal or generalized, which are typically resistant to antiepileptic drugs. A developmental delay from the 2nd to 3rd year of life becomes evident, together with motor disturbances and personality disorders. Beside the classic syndrome, there are milder cases which have been called severe myoclonic epilepsy borderline (SMEB. DS is caused by a mutation in the neuronal sodium channel gene, SCN1A , that is also mutated in generalized epilepsy with FS+ (GEFS+.

  9. Manual Therapy and Exercise for a Patient With Neck-Tongue Syndrome: A Case Report.

    Science.gov (United States)

    Niethamer, Lisa; Myers, Robin

    2016-03-01

    Case report. Neck-tongue syndrome (NTS) is defined as neck and/or head pain accompanied by ipsilateral dysesthesia of the tongue with sudden rotation of the head. Proposed causes include compression or irritation of the C2 nerve root as it courses behind the atlantoaxial joint or hypertrophy of the inferior oblique muscle. The primary purpose of this case report was to describe the conservative physical therapy treatment of a patient with uncomplicated NTS. The patient was a 13-year-old girl who reported insidious onset of sharp pain in the neck, numbness/tingling of the ipsilateral tongue/face, and tinnitus with cervical rotation. Symptoms occurred several times a week for approximately 10 seconds. Examination revealed impaired function, increased forward head posture, decreased cervical range of motion, and positive neurodynamic assessment. The patient's treatment included manual therapy and exercise for postural stabilization. Following 8 visits, pain of the neck and tongue numbness had resolved. Score on the Patient-Specific Functional Scale (PSFS), cervical range of motion, and posture had also improved. At the 22-month follow-up, infrequent, momentary symptoms in the neck and dysesthesia of the tongue were reported. The PSFS remained the same. Objective measures were normal. This case report describes the physical therapy management of an individual with NTS. The management strategy followed a protocol similar to that used for cervicogenic headaches, due to the involvement of the upper cervical spine with both NTS and cervicogenic headache and the lack of evidence for the treatment of NTS. Level of Evidence Therapy, level 4.

  10. [Fibromyalgia syndrome].

    Science.gov (United States)

    Naranjo Hernández, A; Rodríguez Lozano, C; Ojeda Bruno, S

    1992-02-01

    The Fibromialgia Syndrome (FS) is a common clinical entity which may produce symtoms and signs related to multiple fields of Medicine. Typical clinical characteristics of FS include extensive pain, presence of sensitive points during exploration, morning stiffness, asthenia and non-refresing sleep. Frequently, associated rheumatologic diseases are observed, as rheumatoid arthritis, osteoarthrosis and vertebral disorders. In FS, complementary tests are usually normal. The most widely accepted hypothesis suggests that this is a disorder affecting modulation of pain sensitivity.

  11. Griscelli syndrome

    Directory of Open Access Journals (Sweden)

    Kumar T

    2006-01-01

    Full Text Available Partial albinism with immunodeficiency is a rare and fatal immunologic disorder characterized by pigmentary dilution and variable cellular immunodeficiency. It was initially described in 1978. Primary abnormalities included silvery grayish sheen to the hair, large pigment agglomerations in hair shafts and an abundance of mature melanosomes in melanocytes, with reduced pigmentation of adjacent keratinocytes. We describe a child with Griscelli syndrome who presented with hepatitis, pancytopenia and silvery hair. The diagnosis was confirmed by microscopic skin and hair examination.

  12. Asperger Syndrome

    OpenAIRE

    Friedlander, Robin

    2002-01-01

    Abstract Asperger syndrome (AS) is a chronic neurodevelopmental disorder of social interaction, communication, and a restricted range of behaviors or interests. Although not generally associated with intellectual disability, the severe social disability and, in many cases, associated mental health and other medical problems, result in disability throughout life. The diagnosis is often delayed, sometimes into adulthood, which is unfortunate because there are now a range...

  13. What Is Marfan Syndrome?

    Science.gov (United States)

    ... Outreach Initiative Breadcrumb Home Health Topics English Español Marfan Syndrome Basics In-Depth Download Download EPUB Download PDF What is it? Points To Remember About Marfan Syndrome Marfan syndrome affects connective tissue, which is the “ ...

  14. Turner Syndrome: Other FAQs

    Science.gov (United States)

    ... celiac disease. 5 Is Turner syndrome considered a disability? Turner syndrome is not considered a disability, although ... girls with Turner syndrome have difficulty with arithmetic, visual memory, and visio-spatial skills (such as determining ...

  15. Basal cell nevus syndrome

    Science.gov (United States)

    ... nevus syndrome Basal cell nevus syndrome - face References Evans DG, Farndon PA. Nevoid basal cell carcinoma syndrome. ... A.D.A.M. follows rigorous standards of quality and accountability. A.D.A.M. is among ...

  16. What Causes Rett Syndrome?

    Science.gov (United States)

    ... it? Share Facebook Twitter Pinterest Email Print What causes Rett syndrome? Most cases of Rett syndrome are ... in the MECP2 gene represent the most prevalent causes of Rett syndrome. The development and severity of ...

  17. Toxic shock syndrome

    Science.gov (United States)

    Staphylococcal toxic shock syndrome; Toxic shock-like syndrome; TSLS ... Toxic shock syndrome is caused by a toxin produced by some types of staphylococcus bacteria. A similar problem, called toxic shock- ...

  18. Neonatal respiratory distress syndrome

    Science.gov (United States)

    Hyaline membrane disease (HMD); Infant respiratory distress syndrome; Respiratory distress syndrome in infants; RDS - infants ... after that. Some infants with severe respiratory distress syndrome will die. This most often occurs between days ...

  19. Genetics Home Reference: antiphospholipid syndrome

    Science.gov (United States)

    ... Share: Email Facebook Twitter Home Health Conditions Antiphospholipid syndrome Antiphospholipid syndrome Printable PDF Open All Close All Enable ... area? Other Names for This Condition anti-phospholipid syndrome antiphospholipid antibody syndrome Hughes syndrome Related Information How are ...

  20. Inherited ichthyosis: Syndromic forms.

    Science.gov (United States)

    Yoneda, Kozo

    2016-03-01

    Among diseases that cause ichthyosis as one of the symptoms, there are some diseases that induce abnormalities in organs other than the skin. Of these, diseases with characteristic signs are regarded as syndromes. Although these syndromes are very rare, Netherton syndrome, Sjögren-Larsson syndrome, Conradi-Hünermann-Happle syndrome, Dorfman-Chanarin syndrome, ichthyosis follicularis, atrichia and photophobia (IFAP) syndrome, and Refsum syndrome have been described in texts as representative ones. It is important to know the molecular genetics and pathomechanisms in order to establish an effective therapy and beneficial genetic counseling including a prenatal diagnosis. © 2016 Japanese Dermatological Association.

  1. The Effect of Naproxen and Prednisolone in the Treatment of Mild to Moderate Carpal Tunnel Syndrome

    Directory of Open Access Journals (Sweden)

    P yazdan panah

    2016-03-01

    Full Text Available Background & aim: Carpal tunnel syndrome is the entrapment of the median nerve in carpal tunnel of the wrist. Symptoms of this syndrome are numbness, tingling, weakness or pain in the fingers and wrist. Treatment includes rest, avoiding the many activities available, splints, non-steroidal anti-inflammatory drugs, oral steroids, steroid injection in wrist and surgery. This study compared the effects of oral prednisolone and naproxen (non-steroidal anti-inflammatory drugs in the treatment of mild to moderate carpal tunnel syndrome. Methods: In the present clinical-trial study, 44 patients who had mild to moderate carpal tunnel syndrome were selected and randomly assigned into two treatment groups: group 1(n = 22 received naproxen 1000 mg daily for 4 weeks and the group 2 (n = 22 received oral prednisolone 20 mg, daily, in the first 2 weeks and 10 mg daily for 2 weeks. The 3 persons of the second group dropped out of treatment. Re-evaluation of treatment outcome was performed 2 months later. Collected data were analyzed using SPSS software. To describe the data, frequency tables were used. Furthermore, the Chi-square test was used to analyze the data. Results: 36(87.8% of the patients were males and 12.2% were females. The electro diagnostic studies were shown 16 hands (19.5% normal, 19 hands (23.2% had mild and 47 (57.3% had moderate involvement in beginning of treatment. Tingling fingers and pain in the prednisolone group had significantly lower rate than naproxen group (p< 0.05, but the symptoms were not significantly different in the two groups. Conclusion: The effects of treatments, relief of symptoms and the decrease intensity of carpal tunnel syndrome in patients who received prednisolone were more than naproxen.

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

    Science.gov (United States)

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

    2015-01-01

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

  3. Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome.

    Directory of Open Access Journals (Sweden)

    Tomoo Ogi

    Full Text Available A homozygous mutational change in the Ataxia-Telangiectasia and RAD3 related (ATR gene was previously reported in two related families displaying Seckel Syndrome (SS. Here, we provide the first identification of a Seckel Syndrome patient with mutations in ATRIP, the gene encoding ATR-Interacting Protein (ATRIP, the partner protein of ATR required for ATR stability and recruitment to the site of DNA damage. The patient has compound heterozygous mutations in ATRIP resulting in reduced ATRIP and ATR expression. A nonsense mutational change in one ATRIP allele results in a C-terminal truncated protein, which impairs ATR-ATRIP interaction; the other allele is abnormally spliced. We additionally describe two further unrelated patients native to the UK with the same novel, heterozygous mutations in ATR, which cause dramatically reduced ATR expression. All patient-derived cells showed defective DNA damage responses that can be attributed to impaired ATR-ATRIP function. Seckel Syndrome is characterised by microcephaly and growth delay, features also displayed by several related disorders including Majewski (microcephalic osteodysplastic primordial dwarfism (MOPD type II and Meier-Gorlin Syndrome (MGS. The identification of an ATRIP-deficient patient provides a novel genetic defect for Seckel Syndrome. Coupled with the identification of further ATR-deficient patients, our findings allow a spectrum of clinical features that can be ascribed to the ATR-ATRIP deficient sub-class of Seckel Syndrome. ATR-ATRIP patients are characterised by extremely severe microcephaly and growth delay, microtia (small ears, micrognathia (small and receding chin, and dental crowding. While aberrant bone development was mild in the original ATR-SS patient, some of the patients described here display skeletal abnormalities including, in one patient, small patellae, a feature characteristically observed in Meier-Gorlin Syndrome. Collectively, our analysis exposes an overlapping

  4. Cockayne syndrome

    DEFF Research Database (Denmark)

    Karikkineth, Ajoy C; Scheibye-Knudsen, Morten; Fivenson, Elayne

    2017-01-01

    Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, pigmentary retinopathy, cataracts, sensorineural deafness, and ambulatory and feeding difficulties......, leading to death by 12 years of age on average. It is an autosomal recessive disorder, with a prevalence of approximately 2.5 per million. There are several phenotypes (1-3) and two complementation groups (CSA and CSB), and CS overlaps with xeroderma pigmentosum (XP). It has been considered a progeria...

  5. [Dependency syndrome].

    Science.gov (United States)

    Vuorisalo, Sailaritta

    2013-01-01

    The most common causes of lower limb edema include cardiac insufficiency, venous insufficiency, insufficiency of lymph flow, and side effects of drugs. It can also be due to dependency syndrome, in which the edema and skin changes can only be explained by a passive calf muscle pump and the resulting venous hypertension. Underlying the drop foot is always immobilization for one reason or other. The patient must be given an explanation about the situation, activated to move if possible, and in any case guided to the use of support stockings and postural therapy.

  6. Eagle Syndrome

    Directory of Open Access Journals (Sweden)

    Beytholahi JM

    1998-09-01

    Full Text Available Eagle's syndrome is characterized by an elongated styloid process and (or calcification of"nstylohyoid ligament besides clinical symptoms. The symptoms are those related to pain when"nswallowing or rotating the neck, headacke, earache, dizziness, intermittent glossitis, sensation of"nforeign body in pharynx and transient syncope. The case which is presented can be considered a very"nrare form of the disease in which complete calcification of the ligament and it's thickening has"noccured. Also there is little relationship between the severity of calcification and severity of symptoms."nA careful and thorough evaluation of each panoramic radiography is emphasized.

  7. Jacobsen syndrome

    Directory of Open Access Journals (Sweden)

    Grossfeld Paul

    2009-03-01

    Full Text Available Abstract Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. To date, over 200 cases have been reported. The prevalence has been estimated at 1/100,000 births, with a female/male ratio 2:1. The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, broad nasal bridge, short nose, v-shaped mouth, small ears, low set posteriorly rotated ears. Abnormal platelet function, thrombocytopenia or pancytopenia are usually present at birth. Patients commonly have malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system and skeleton. Ocular, hearing, immunological and hormonal problems may be also present. The deletion size ranges from ~7 to 20 Mb, with the proximal breakpoint within or telomeric to subband 11q23.3 and the deletion extending usually to the telomere. The deletion is de novo in 85% of reported cases, and in 15% of cases it results from an unbalanced segregation of a familial balanced translocation or from other chromosome rearrangements. In a minority of cases the breakpoint is at the FRA11B fragile site. Diagnosis is based on clinical findings (intellectual deficit, facial dysmorphic features and thrombocytopenia and confirmed by cytogenetics analysis. Differential diagnoses include Turner and Noonan syndromes, and acquired thrombocytopenia due to sepsis. Prenatal diagnosis of 11q deletion is possible by amniocentesis or chorionic villus sampling and cytogenetic analysis. Management is multi-disciplinary and requires evaluation by general pediatrician, pediatric cardiologist, neurologist, ophthalmologist. Auditory tests, blood tests, endocrine and immunological assessment and follow-up should be offered to all patients. Cardiac malformations can be

  8. HELLP syndrome

    Directory of Open Access Journals (Sweden)

    Dilek Acar

    2014-08-01

    Suggested treatment modality consists, stabilization of blood pressure and magnesium sulfate infusion. Then evaluation of fetal status and planning delivery method and time if maternal status remains unstable. If prognosis seems favorable without urgent delivery and fetus can benefit from it, a course of betamethasone can be given to fetuses between 24 and 34 weeks of gestational age. The only and definite treatment of HELLP syndrome is delivering the baby. Suggested benefits of steroid therapy and other experimental treatments are still to be proven effective by large randomized controlled trials. [Archives Medical Review Journal 2014; 23(4.000: 735-760

  9. Olmsted Syndrome

    Directory of Open Access Journals (Sweden)

    Sirka C

    1999-01-01

    Full Text Available A 20-year-old Sikh man had palmoplantar keratoderma, flexion deformity of digits, universal alopecia, keratotic plaques at the angles of mouth, gluteal cleft, knees and dorsal aspects of the metacarpophalangeal joints of the hand; features of Olmsted syndrome. He had normal nails, teeth, oral mucosa and normal joint movements. Treatment with acitretin, 25mg/day for three and a half months, followed by 25mg once daily alternating with 50mg once daily for 3 months resulted in significant improvement.

  10. Morphological impact on patients of maxillomandibular advancement surgery for the treatment of obstructive sleep apnea-hypopnea syndrome.

    Science.gov (United States)

    Beranger, Thibaut; Garreau, Emilie; Ferri, Joël; Raoul, Gwenael

    2017-03-01

    The aim of this study is to evaluate the experience of patients who have benefited from maxillomandibular advancement surgery for the treatment of obstructive sleep apnea-hypopnea syndrome (OSAHS), and also the morphological modifications measured on pre- and postoperative lateral headfilms. Twenty-three patients aged 24 to 64 (M=46.8) who had undergone bimaxillary advancement osteotomy for the treatment of OSAHS filled in a questionnaire concerning their overall satisfaction following surgery, the modification of their facial appearance as perceived by themselves and their family and friends, the change in their smile, and the slimmer and more youthful appearance of their face. Measurements of bone and skin points were also performed on lateral cephalograms before and after surgery so as to assess the advancement of the bony bases (maxillary, mandibular and chin advancement) and the impact on soft tissue by analysis of the skin profile. A total of 91.3% of the patients were satisfied overall following the surgical procedure; 78.3% considered that their faces were improved or unchanged; 39.1% found their faces slimmer and 34.8% thought they looked more youthful. Average maxillary, mandibular and chin advancements with respect to the base of the skull were, respectively, 7.4mm, 11.1mm and 14.1mm. Advancement of the stomion point with respect to the Frankfurt plane was 8.3mm on average, reflecting a significant forward movement of the upper and lower lips. Despite greater maxillary and mandibular advancements than in traditional orthognathic surgery, patients reacted positively to these morphological changes, considering in more than a third of cases that their faces looked slimmer or more youthful. It can thus be concluded that overall satisfaction is high, with a morphological impact that is satisfactory and well-accepted by patients postoperatively. Copyright © 2016 CEO. Published by Elsevier Masson SAS. All rights reserved.

  11. KBG syndrome

    Directory of Open Access Journals (Sweden)

    Brancati Francesco

    2006-12-01

    Full Text Available Abstract KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral anomalies and developmental delay. To date, KBG syndrome has been reported in 45 patients. Clinical features observed in more than half of patients that may support the diagnosis are short stature, electroencephalogram (EEG anomalies (with or without seizures and abnormal hair implantation. Cutaneous syndactyly, webbed short neck, cryptorchidism, hearing loss, palatal defects, strabismus and congenital heart defects are less common findings. Autosomal dominant transmission has been observed in some families, and it is predominantly the mother, often showing a milder clinical picture, that transmits the disease. The diagnosis is currently based solely on clinical findings as the aetiology is unknown. The final diagnosis is generally achieved after the eruption of upper permanent central incisors at 7–8 years of age when the management of possible congenital anomalies should have been already planned. A full developmental assessment should be done at diagnosis and, if delays are noted, an infant stimulation program should be initiated. Subsequent management and follow-up should include an EEG, complete orthodontic evaluation, skeletal investigation with particular regard to spine curvatures and limb asymmetry, hearing testing and ophthalmologic assessment.

  12. Cardiorenal syndrome

    Directory of Open Access Journals (Sweden)

    Sabry Omar

    2013-01-01

    Full Text Available Cardiovascular disease is the leading cause of death in patients with chronic kidney disease.  Heart failure may lead to acute kidney injury and vice versa. Chronic kidney disease may affect the clinical outcomes in patients with cardiovascular disorders. Renal impairment with any degree of albuminuria has been increasingly recognized as an independent risk factor for cardiovascular events and heart failure hospitalizations, while chronic heart failure may cause chronic kidney disease. The bidirectional nature of these disorders contributes to the complexity and the composite definitions of cardiorenal syndromes. However, the most important clinical trials in heart failure tend to exclude patients with significant renal dysfunction. The mechanisms whereby renal insufficiency worsens the outcome in heart failure are not known, and several pathways could contribute to the ‘‘vicious heart/kidney circle.’’ Traditionally, renal impairment has been attributed to the renal hypoperfusion due to reduced cardiac output and decreased systemic pressure. The hypovolemia leads to sympathetic activity, increased renin-angiotensin aldosterone pathway, and arginine-vasopressin release. These mechanisms cause fluid and sodium retention, peripheral vasoconstriction, and volume overload. Therapy to improve renal dysfunction, reduce neurohormonal activation and ameliorate renal blood flow could lead to a reduction in mortality and hospitalization in patients with cardiorenal syndrome.

  13. Sotos syndrome

    Directory of Open Access Journals (Sweden)

    Cormier-Daire Valérie

    2007-09-01

    Full Text Available Abstract Sotos syndrome is an overgrowth condition characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty, and associated with variable minor features. The exact prevalence remains unknown but hundreds of cases have been reported. The diagnosis is usually suspected after birth because of excessive height and occipitofrontal circumference (OFC, advanced bone age, neonatal complications including hypotonia and feeding difficulties, and facial gestalt. Other inconstant clinical abnormalities include scoliosis, cardiac and genitourinary anomalies, seizures and brisk deep tendon reflexes. Variable delays in cognitive and motor development are also observed. The syndrome may also be associated with an increased risk of tumors. Mutations and deletions of the NSD1 gene (located at chromosome 5q35 and coding for a histone methyltransferase implicated in transcriptional regulation are responsible for more than 75% of cases. FISH analysis, MLPA or multiplex quantitative PCR allow the detection of total/partial NSD1 deletions, and direct sequencing allows detection of NSD1 mutations. The large majority of NSD1 abnormalities occur de novo and there are very few familial cases. Although most cases are sporadic, several reports of autosomal dominant inheritance have been described. Germline mosaicism has never been reported and the recurrence risk for normal parents is very low (

  14. Vasculitis Syndromes of the Central and Peripheral Nervous Systems

    Science.gov (United States)

    ... slowly and include headache, dementia, behavioral changes, pain, sensory abnormalities, and tremor. Stroke, transient ischemic attack, multiple ... cold or numbness in the limbs, problems with memory and thinking, and visual disturbances. It may also ...

  15. Marfan Syndrome (For Parents)

    Science.gov (United States)

    ... Staying Safe Videos for Educators Search English Español Marfan Syndrome KidsHealth / For Parents / Marfan Syndrome Print en español Síndrome de Marfan What Is Marfan Syndrome? Marfan syndrome is a genetic disorder of the ...

  16. What Is Usher Syndrome?

    Science.gov (United States)

    ... Usher syndrome. However, the RP associated with Usher syndrome shares most of its characteristics with other forms of RP. Researchers expect that advances in understanding and treating other forms of RP will directly benefit people with Usher syndrome and vice versa. What is Usher Syndrome? Risk ...

  17. Burnout Syndrome of Teachers

    OpenAIRE

    Semrádová, Michaela

    2013-01-01

    The bachelor's thesis covers burnout syndrome of teachers. Defines burnout syndrome, describes its causes and symptoms. Describes teaching as helping profession and focousing on stressful situations at school. In the last chapter described different prevention strategies burnout syndrome. Key words: burnout syndrome, teaching, teacher, helping professions, beginning teacher, stress

  18. Superior Mesenteric Artery Syndrome or Wilkie Syndrome

    International Nuclear Information System (INIS)

    Castano Llano, Rodrigo; Chams Anturi, Abraham; Arango Vargas, Paula

    2009-01-01

    We described three cases of superior mesenteric artery (SMA) syndrome, also known as Wilkie's syndrome, chronic duodenal ileus, or cast syndrome. This syndrome occurs when the third portion of the duodenum is compressed between the SMA and the aorta. The major risk factors for development of SMA syndrome are rapid weight loss and surgical correction of spinal deformities. The clinical presentation of SMA syndrome is variable and nonspecific, including nausea, vomiting, abdominal pain, and weight loss. The diagnosis is based on endoscopic, radiographic and tomographic findings of duodenal compression by the SMA. The treatment of SMA syndrome is aimed at the precipitating factor, which usually is related to weight loss. Therefore, conservative therapy with nutritional supplementation is the initial approach, and surgery is reserved for those who do not respond to nutritional therapy.

  19. Neurological symptoms and signs in HTLV-1 patients with overactive bladder syndrome

    Directory of Open Access Journals (Sweden)

    Davi Tanajura Costa

    2012-04-01

    Full Text Available OBJECTIVE: To compare neurological symptoms and signs in HTLV-1 asymptomatic carriers and HTLV-1 patients with overactive bladder (OB syndrome. METHODS: We studied 102 HTLV-1 positive individuals without HAM/TSP (HTLV-1 associated myelopathy/tropical spastic paraparesis divided into two groups according to the presence or absence of OB syndrome. Clinical interview, neurological exam and proviral load was performed in all patients. RESULTS AND CONCLUSIONS: Individuals with OB were more commonly female (84.3 vs. 60.8% of asymptomatics, p=0.01. The prevalence of neurological complaints was higher in OB group, especially hand or foot numbness and arm or leg weakness. There was no difference between the groups in neurological strength and reflexes. Weakness complaint remained strongly associated with OB in multivariate logistic regression analysis adjusting for sex and age [adjusted odds ratio and 95%CI 3.59 (1.45-8.88 in arms and 6.68 (2.63-16.93 in legs]. Proviral load was also different between the two groups with higher level on OB individuals.

  20. Lower Extremity Compartment Syndrome From Prolonged Limb Compression and Immobilization During an Airborne Operation.

    Science.gov (United States)

    Smedick, Brian C; van Wyck, David

    2016-01-01

    Acute compartment syndrome (ACS) involving the leg can occur in association with various traumatic and nontraumatic conditions, and it can have serious longterm consequences when unrecognized or untreated. Nontraumatic causes of ACS, such as those associated with cases of prolonged immobilization and/or extremity compression, can be easily overlooked, and several cases of ACS occurring with prolonged surgical positioning can be found in the literature. We present the case of a 19-year-old Army paratrooper who developed acute anterior and lateral compartment syndrome of the lower extremity after being immobilized in an aircraft for hours with several hundred pounds of equipment compressing his lower extremities. To our knowledge, this is the first documented case of ACS occurring as a result of prejump conditions. It demonstrates a potentially serious complication that could result in medical separation and/or permanent disability of the service member. ACS of the extremity should be considered in any Soldier who is required to bear heavy loads, is immobilized for several hours at a time, and complains of symptoms such as extremity pain, numbness, and weakness. 2016.

  1. [Syndrome X vs metabolic syndrome].

    Science.gov (United States)

    Morales Villegas, Enrique

    2006-01-01

    Himsworth in 1939 postulated that Diabetes Mellitus type 2 (DM2) was not only an insulin deficiency state but also a cellular insulin insensitivity disease. Thirty years later, DeFronzo and Reaven demonstrated that insulin resistance (IR) preceded and predisposed for DM2 and atherosclerotic-cardiovascular-disease (ACVD). Reaven was the first to point out the relationship between IR and with hyperglycemia, dyslipidosis, and hypertension as mediators for ACVD, creating the concept of Syndrome X (SX) in 1988. WHO and, thereafter, other medical societies and medical groups, mainly ATP-III, in 2002, based on the difficulty of diagnosing IR in a simple, reliable, and inexpensive way, proposed and published the Metabolic Syndrome (MS) concept, as a group of five variables, i.e., obesity, hyperglycemia, hypertriglyceridemia, low HDL, and hypertension, as an easy clinical approximation to suspect and treat an increased cardiometabolic risk. Nowadays, there are deep and extensive controversies on this issue; however, these controversies do not really exist since all discordant points of view are rather quantitative and not qualitative in nature. This article is aimed at differentiating and harmonizing the complementary concepts of SX and MS, at analyzing why MS is a good "clinical window" to look for IR and its underlying manifestations, and finally to accept that the MS concept complements, but does not substitute or antagonize, traditional scales used to asses cardiovascular risk, such as the Framingham scale.

  2. Syndromes with supernumerary teeth.

    Science.gov (United States)

    Lubinsky, Mark; Kantaputra, Piranit Nik

    2016-10-01

    While most supernumerary teeth are idiopathic, they can be associated with a number of Mendelian syndromes. However, this can also be a coincidental finding, since supernumerary teeth occur in 6% or more of the normal population. To better define this relationship, we analyzed the evidence for specific associations. We excluded conditions with a single affected patient reported, supernumerary teeth adjacent to clefts or other forms of alveolar disruption (as secondary rather than primary findings), and natal teeth, which can involve premature eruption of a normal tooth. Since, the cause of supernumerary teeth shows considerable heterogeneity, certain findings are less likely to be coincidental, such as five or more supernumerary teeth in a single patient, or locations outside of the premaxilla. We found only eight genetic syndromes with strong evidence for an association: cleidocranial dysplasia; familial adenomatous polyposis; trichorhinophalangeal syndrome, type I; Rubinstein-Taybi syndrome; Nance-Horan syndrome; Opitz BBB/G syndrome; oculofaciocardiodental syndrome; and autosomal dominant Robinow syndrome. There is also suggestive evidence of an association with two uncommon disorders, Kreiborg-Pakistani syndrome (craniosynostosis and dental anomalies), and insulin-resistant diabetes mellitus with acanthosisnigricans. An association of a Mendelian disorder with a low frequency manifestation of supernumerary teeth is difficult to exclude without large numbers, but several commonly cited syndromes lacked evidence for clear association, including Hallermann-Streiff syndrome, Fabry disease, Ehlers-Danlos syndrome, Apert and Crouzon syndromes, Zimmermann-Laband syndrome, and Ellis-van Creveld syndrome. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  3. HEPATORENAL SYNDROME

    Directory of Open Access Journals (Sweden)

    Matjaž Hafner

    2001-12-01

    Full Text Available Background. Hepatorenal syndrome (HRS is acommon complication of advanced hepatic disease characterizedby marked abnormalities in arterial circulation and byrenal failure. An extreme arteriolar vasodilatation located inthe splanchnic circulation results in a reduction of total systemicvascular resistence and arterial hypotension. Vasoconstrictionoccurs in the renal circulation as in all other extrasplanchnicvascular territories. In the kidney, marked renalvasoconstriction results in a low glomerular filtration rate.Conclusions. The diagnosis of HRS is currently based on exclusionof other causes of renal failure. Prognosis of patientswith HRS is very poor. Liver transplantation is the best therapeuticoption, but it is seldom applicable due to the short survivalexpectancy of most patients with HRS, particularly thosewith the rapidly progressive type of HRS. New therapies developedduring the last few years, such as the use of systemicvasoconstrictors or transjugular intrahepatic portosystemicshunts (TIPS appear promising. Such treatments are of interestnot only as a bridge to liver transplantation but also as atherapy for patients who are not candidates for transplantation.

  4. Produção de repolho branco chinês (pak choi sob proteção com "não tecido" de polipropileno Yield of pak choi crop under non woven polypropylene

    Directory of Open Access Journals (Sweden)

    Marie Y. Reghin

    2002-06-01

    Full Text Available O cultivo do repolho branco chinês (pak choi (Brassica campestris var. chinensis foi avaliado nas condições de inverno dos Campos Gerais (PR, sob proteção, com "não tecido" de polipropileno branco, também conhecido como agrotêxtil, nas gramaturas de 17 e 25 g/m², comparado com o cultivo sem proteção. Os híbridos usados foram Canton e Chouyou com semeadura em bandejas de poliestireno expandido em 11/05/00 e transplante no estádio de 4-5 folhas definitivas, em 23/06/00. O delineamento experimental foi de blocos casualizados com 5 repetições, tendo os tratamentos seguido esquema fatorial 3x2. Cada parcela teve 36 plantas distribuídas no espaçamento 0,30 x 0,30m. Após o transplante, nas parcelas respectivas, as plantas foram cobertas com o agrotêxtil como uma manta flutuante. As avaliações na colheita, realizada de acordo com a maturidade das plantas foram: número de folhas, altura da parte aérea, diâmetro da base, peso de matéria fresca e matéria seca de plantas. A porcentagem de plantas com florescimento prematuro foi avaliada aos 51 dias. No cultivo sem proteção, as plantas do híbrido Canton foram prejudicadas pela geada, apresentando os bordos foliares totalmente queimados, enquanto o híbrido Chouyou não teve nenhum sintoma visual de dano por geada. O agrotêxtil protegeu as plantas contra a geada e contribuiu para o desenvolvimento mais rápido das plantas, possibilitando colheita precoce aos 38 dias do transplante quando usou-se gramatura de 25 g/m² e aos 42 dias na de 17 g/m². No cultivo sem proteção, a colheita ocorreu somente aos 46 dias. Entre os híbridos, Canton foi mais precoce que Chouyou. No entanto, Canton foi suscetível ao florescimento prematuro na estação de inverno, apresentando algumas plantas com esta ocorrência aos 36 dias do transplante. A proteção com polipropileno promoveu a produção de plantas com qualidade superior do produto observada através das características de maior peso

  5. Noonan syndrome

    Directory of Open Access Journals (Sweden)

    van der Burgt Ineke

    2007-01-01

    Full Text Available Abstract Noonan Syndrome (NS is characterised by short stature, typical facial dysmorphology and congenital heart defects. The incidence of NS is estimated to be between 1:1000 and 1:2500 live births. The main facial features of NS are hypertelorism with down-slanting palpebral fissures, ptosis and low-set posteriorly rotated ears with a thickened helix. The cardiovascular defects most commonly associated with this condition are pulmonary stenosis and hypertrophic cardiomyopathy. Other associated features are webbed neck, chest deformity, mild intellectual deficit, cryptorchidism, poor feeding in infancy, bleeding tendency and lymphatic dysplasias. The syndrome is transmitted as an autosomal dominant trait. In approximately 50% of cases, the disease is caused by missense mutations in the PTPN11 gene on chromosome 12, resulting in a gain of function of the non-receptor protein tyrosine phosphatase SHP-2 protein. Recently, mutations in the KRAS gene have been identified in a small proportion of patients with NS. A DNA test for mutation analysis can be carried out on blood, chorionic villi and amniotic fluid samples. NS should be considered in all foetuses with polyhydramnion, pleural effusions, oedema and increased nuchal fluid with a normal karyotype. With special care and counselling, the majority of children with NS will grow up and function normally in the adult world. Management should address feeding problems in early childhood, evaluation of cardiac function and assessment of growth and motor development. Physiotherapy and/or speech therapy should be offered if indicated. A complete eye examination and hearing evaluation should be performed during the first few years of schooling. Preoperative coagulation studies are indicated. Signs and symptoms lessen with age and most adults with NS do not require special medical care.

  6. Sotos syndrome.

    Science.gov (United States)

    Baujat, Geneviève; Cormier-Daire, Valérie

    2007-09-07

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

  7. Raynaud syndrome.

    Science.gov (United States)

    Valdovinos, Sergio Toledo; Landry, Gregory J

    2014-12-01

    Raynaud syndrome (RS) was first described by the French physician Maurice Raynaud in 1862 with the characteristic tricolor change featuring pallor (ischemic phase), cyanosis (deoxygenation phase), and erythema (reperfusion phase) induced by cold or stress. Although the underlying pathophysiological mechanism is unclear, alterations in activity of the peripheral adrenoceptor have been implicated, specifically an enhanced smooth muscle contraction due to overexpression or hyperactivity of postsynaptic alpha 2 receptors. There are 2 ways that RS can appear clinically; isolated, formerly referred as Raynaud disease or now primary RS and in association with other conditions, usually connective tissue disorders (eg, Sjögren syndrome, systemic lupus erythematosus, scleroderma, and rheumatoid arthritis), frequently called Raynaud phenomenon or secondary RS. The estimated prevalence in the general population is 3%-5%, with a higher prevalence in women than in men. The diagnosis is mainly clinical, based on patient descriptions of skin changes. Upper extremity pulse-volume recording is used to rule out proximal arterial obstruction. The differentiation between a vasospastic vs and obstructive mechanism is made using digital pressures and photoplethysmography, where an obstructive mechanism has decreased pressures and blunted waveforms. Cold challenge testing, such as ice water immersion with temperature recovery, is highly sensitive but lack specificity. Serologic screening (antinuclear antibody and rheumatoid factor) is advocated to rule out associated connective tissue disorders. Most patients with RS can be managed conservatively, with avoidance of cold exposure or hand warming. For those in whom conservative management is inadequate, a number of pharmacologic and surgical therapies have been used. Owing to lack of complete understanding of the underlying pathophysiology, targeted therapy has not been possible; rather, therapy has been focused on the use of general

  8. Griscelli syndrome.

    Science.gov (United States)

    Emanuel, Patrick O; Sternberg, Lauren J; Phelps, Robert G

    2007-01-01

    The dermatology staff was called to evaluate abnormal hair on a 22-month-old Hispanic girl whose parents were first cousins. Her medical history was significant for leptomeningitis with subsequent neurologic devastation, gastroesophageal reflux disease, and recurrent respiratory infections. Her hospital course was complicated by sepsis, liver dysfunction, pan-cytopenia, and disseminated intravascular coagulation. She had developed normally for the first year of life. At 13 months she became progressively lethargic and developed floppy muscle tone; a delay in mental and motor milestones was recognized. Results of a metabolic workup were negative. On examination she was noted to have generalized excessively fair skin when compared with her parents. She had silver-gray hair (Figure 1) and white eyebrows and body hair. Her maternal grandfather and granduncles had silver hair since childhood, but were without health problems. A maternal family member was said to have light skin. The presumed diagnosis before pathologic examination was Chediak-Higashi syndrome. Hematoxylin and eosin stain tests revealed prominent melanocytes in the basal layer of the epidermis. The melanocytes were large and distended with a large volume of melanin (Figure 2). The adjacent keratinocytes were completely devoid of melanin. Application of Masson-Fontana ammoniac silver stain highlighted prominent melanocytic melanin and a relative paucity of melanin in the adjacent keratinocytes (Figure 3). Microscopic examination of her hair revealed clumps of melanin of various sizes and shapes irregularly distributed throughout the hair shaft. Ultrastructural examination of the epidermis showed the melanocytes were distended by an accumulation of large stage IV mature melanosomes. Peripheral blood smear failed to show abnormal granules, even after repeated examination. Based on the clinical features and the pathologic findings, a diagnosis of Griscelli syndrome type 2 was made.

  9. El hoyo de la barba femenina, sepulcro del amante: Cervantes, Góngora, Meléndez Valdés y la tradición popular de “El retrato de la dama” / The women's chin hole, tomb of the lover: Cervantes, Góngora, Meléndez Valdés and “El retrato de la dama”

    Directory of Open Access Journals (Sweden)

    José Manuel Pedrosa

    2011-04-01

    Full Text Available RESUMEN. Análisis de una fórmula poética (el amante que quiere ser enterrado en la barbilla o en el cuerpo de la amada documentada desde los tiempos de Cervantes, Góngora o Meléndez Valdés hasta la poesía tradicional de España e Hispanoamérica del siglo XXI. Comparación con versiones musicales compuestas por Rückert y Schumann, o Gauthier y Berlioz. ABSTRACT. Analysis of a poetic formula (about a lover who claims for being buried inside his beloved’s chin that we know from the times of Cervantes, Góngora and Meléndez Valdés until Spanish and Latin American oral poetry of the XXIst century. Comparison with some musical versions by Rückert and Schumann, as well as Gauthier and Berlioz.

  10. The Effects of Superficial Musculoaponeurotic System Flap on the Development of Frey's Syndrome and Cosmetic Outcomes After Superficial Parotidectomy.

    Science.gov (United States)

    Bayır, Ömer; Çelik, Elif Kaya; Saylam, Güleser; Tatar, Emel Çadallı; Saka, Cem; Dağlı, Muharrem; Özdek, Ali; Korkmaz, Mehmet Hakan

    2016-12-01

    To investigate the outcomes of superficial musculoaponeurotic system (SMAS) flap and classic techniques in superficial parotidectomy in terms of Frey's syndrome (FS) and cosmetic satisfaction. In this study, a retrospective chart review of patients that underwent superficial parotidectomy was performed. These patients were divided into two subgroups: group 1 included patients in which the SMAS flap was harvested and group 2 comprised the remaining patients on whom classic superficial parotidectomy was performed. All the patients were evaluated clinically and with Minor's starch-iodine test for FS. For the evaluation of the cosmetic results, the patient's satisfaction was queried according to the incision scar and surgical field skin retraction/facial symmetry. Both groups were compared in terms of complications and numbness of surgical area. Fifty-five patients (31 male and 24 female) with a mean age of 50.19 years were included in the study. Thirty-two patients were in group 1 and 23 in group 2. Thirteen patients (23.7%) described as having FS and six of them were in group 1, while seven were in group 2. Minor's starch-iodine test was positive in nine patients in group 1 (28.1%) and six patients in group 2 (26.1%) (p=1.000). With regard to cosmetic satisfaction, eight patients (25%) stated mild discomfort from the incision scar and two patients (6.3%) stated cosmetic dissatisfaction for facial asymmetry in group 1. In group 2 for the same factors the number of patients were 11 (47.8%) and 2 two (8.7%), respectively (p=0.027). There were no statistically significant differences in means of complication and numbness (p>0.05). According to our study results, there was no superiority between both the groups in terms of FS and incision scar satisfaction. We determined that there was a significant benefit of SMAS flap application in the prevention of volume loss and surgical area retraction.

  11. Dose-response relationship between hand-transmitted vibration and hand-arm vibration syndrome in a tropical environment.

    Science.gov (United States)

    Su, Anselm Ting; Maeda, Setsuo; Fukumoto, Jin; Darus, Azlan; Hoe, Victor C W; Miyai, Nobuyuki; Isahak, Marzuki; Takemura, Shigeki; Bulgiba, Awang; Yoshimasu, Kouichi; Miyashita, Kazuhisa

    2013-07-01

    The dose-response relationship for hand-transmitted vibration has been investigated extensively in temperate environments. Since the clinical features of hand-arm vibration syndrome (HAVS) differ between the temperate and tropical environment, we conducted this study to investigate the dose-response relationship of HAVS in a tropical environment. A total of 173 male construction, forestry and automobile manufacturing plant workers in Malaysia were recruited into this study between August 2011 and 2012. The participants were interviewed for history of vibration exposure and HAVS symptoms, followed by hand functions evaluation and vibration measurement. Three types of vibration doses-lifetime vibration dose (LVD), total operating time (TOT) and cumulative exposure index (CEI)-were calculated and its log values were regressed against the symptoms of HAVS. The correlation between each vibration exposure dose and the hand function evaluation results was obtained. The adjusted prevalence ratio for finger tingling and numbness was 3.34 (95% CI 1.27 to 8.98) for subjects with lnLVD≥20 ln m(2) s(-4) against those <16 ln m(2) s(-4). Similar dose-response pattern was found for CEI but not for TOT. No subject reported white finger. The prevalence of finger coldness did not increase with any of the vibration doses. Vibrotactile perception thresholds correlated moderately with lnLVD and lnCEI. The dose-response relationship of HAVS in a tropical environment is valid for finger tingling and numbness. The LVD and CEI are more useful than TOT when evaluating the dose-response pattern of a heterogeneous group of vibratory tools workers.

  12. Goldenhar Syndrome in Association with Duane Syndrome

    Directory of Open Access Journals (Sweden)

    U D Shrestha

    2012-03-01

    Full Text Available Goldenhar syndrome (GHS is also known as Oculo-Auriculo-Vertebral (OAV syndrome or Branchial arch syndrome. Duane retraction syndrome (DRS is a congenital disorder of ocular motility characterized by limited abduction, adduction or both. It is unilateral in 80% of cases. The important and interesting part of this eight months old child is presence of GHS with DRS. She has bilateral invol-vement, which is seen in only 5-8% of GHS, as compared to high incidence of unilateral involve-ment. This child also had refractive error of + 6.00/ - 1.5 * 180. At four year of age her vision with glass was 6/9. Children with GHS and DRS should have early eye examination done to treat the problem of refractive error. Keywords: Duane retraction syndrome; goldenhar syndrome, refractive error.

  13. Prenatal Tests for Down Syndrome

    Science.gov (United States)

    PRENATAL TESTS FOR DOWN SYNDROME S HARE W ITH W OMEN PRENATAL TESTS FOR DOWN SYNDROME What Is Down Syndrome? ... suggests that you consult your health care provider. PRENATAL TESTS FOR DOWN SYNDROME 256 Volume 50, No. ...

  14. The Biochemical Origin of Pain: The origin of all Pain is Inflammation and the Inflammatory Response. PART 2 of 3 –Inflammatory Profile of Pain Syndromes

    Science.gov (United States)

    2009-01-01

    Every pain syndrome has an inflammatory profile consisting of the inflammatory mediators that are present in the pain syndrome. The inflammatory profile may have variations from one person to another and may have variations in the same person at different times. The key to treatment of Pain Syndromes is an understanding of their inflammatory profile. Pain syndromes may be treated medically or surgically. The goal should be inhibition or suppression of production of the inflammatory mediators and inhibition, suppression or modulation of neuronal afferent and efferent (motor) transmission. A successful outcome is one that results in less inflammation and thus less pain. We hereby describe the inflammatory profile for several pain syndromes including arthritis, back pain, neck pain, fibromyalgia, interstitial cystitis, migraine, neuropathic pain, complex regional pain syndrome / reflex sympathetic dystrophy (CRPS/RSD), bursitis, shoulder pain and vulvodynia. These profiles are derived from basic science and clinical research performed in the past by numerous investigators and will be updated in the future by new technologies such as magnetic resonance spectroscopy. Our unifying theory or law of pain states: The origin of all pain is inflammation and the inflammatory response. The biochemical mediators of inflammation include cytokines, neuropeptides, growth factors and neurotransmitters. Irrespective of the type of pain whether it is acute or chronic pain, peripheral or central pain, nociceptive or neuropathic pain, the underlying origin is inflammation and the inflammatory response. Activation of pain receptors, transmission and modulation of pain signals, neuro plasticity and central sensitization are all one continuum of inflammation and the inflammatory response. Irrespective of the characteristic of the pain, whether it is sharp, dull, aching, burning, stabbing, numbing or tingling, all pain arise from inflammation and the inflammatory response. We are proposing

  15. Vascular Ehlers-Danlos Syndrome Without the Characteristic Facial Features

    Science.gov (United States)

    Inokuchi, Ryota; Kurata, Hideaki; Endo, Kiyoshi; Kitsuta, Yoichi; Nakajima, Susumu; Hatamochi, Atsushi; Yahagi, Naoki

    2014-01-01

    Abstract As a type of Ehlers-Danlos syndrome (EDS), vascular EDs (vEDS) is typified by a number of characteristic facial features (eg, large eyes, small chin, sunken cheeks, thin nose and lips, lobeless ears). However, vEDs does not typically display hypermobility of the large joints and skin hyperextensibility, which are features typical of the more common forms of EDS. Thus, colonic perforation or aneurysm rupture may be the first presentation of the disease. Because both complications are associated with a reduced life expectancy for individuals with this condition, an awareness of the clinical features of vEDS is important. Here, we describe the treatment of vEDS lacking the characteristic facial attributes in a 24-year-old healthy man who presented to the emergency room with abdominal pain. Enhanced computed tomography revealed diverticula and perforation in the sigmoid colon. The lesion of the sigmoid colon perforation was removed, and Hartmann procedure was performed. During the surgery, the control of bleeding was required because of vascular fragility. Subsequent molecular and genetic analysis was performed based on the suspected diagnosis of vEDS. These analyses revealed reduced type III collagen synthesis in cultured skin fibroblasts and identified a previously undocumented mutation in the gene for a1 type III collagen, confirming the diagnosis of vEDS. After eliciting a detailed medical profile, we learned his mother had a history of extensive bruising since childhood and idiopathic hematothorax. Both were prescribed oral celiprolol. One year after admission, the patient was free of recurrent perforation. This case illustrates an awareness of the clinical characteristics of vEDS and the family history is important because of the high mortality from this condition even in young people. Importantly, genetic assays could help in determining the surgical procedure and offer benefits to relatives since this condition is inherited in an autosomal dominant

  16. Hepatorenal Syndrome

    Directory of Open Access Journals (Sweden)

    Pınar Zeyneloğlu

    2012-04-01

    Full Text Available Renal failure is a common major complication in patients with advanced cirrhosis and generally indicates a poor prognosis when combined with liver failure. Hepatorenal syndrome (HRS is characterised by a combination of disturbances in circulatory and kidney function. Arterial pressure is decreased in the systemic circulation due to reduced total systemic vascular resistance. Kidney dysfunction is caused by reduction in renal blood flow. The diagnosis of HRS is based on exclusion of other disorders that cause acute kidney injury in cirrhosis as there are no specific tests. There are two types of HRS with different characteristics and prognostics. Liver transplantation is the treatment of choice for all patients without contraindication. The best approach to the pharmacologic management is the administration vasoconstrictor drugs based on the pathogenesis. Many vasoconstrictors including vasopressin analogues (terlipressin, ornipressin and vasopressin, somatostatin analogues (octreotide and alpha-adrenergic analogues (midodrine and norepinephrine have been studied. In most of the studies intravenous albumin therapy was coadministered with vasoconstrictor drugs and suggested that albumin should be considered as the component of pharmacologic intervention in patients with HRS. Renal replacement therapy in the form of hemodialysis or continuous venovenous hemofiltration has been used in the management of HRS patients awaiting transplantation or in those with acute potentially reversible conditions. The artificial hepatic support systems require further investigation. (Journal of the Turkish Society Intensive Care 2012; 10: 37-44

  17. A Rare Cause of Short Stature: 3M Syndrome in a Patient with Novel Mutation in OBSL1 Gene.

    Science.gov (United States)

    Keskin, Melikşah; Muratoğlu Şahin, Nursel; Kurnaz, Erdal; Bayramoğlu, Elvan; Savaş Erdeve, Şenay; Aycan, Zehra; Çetinkaya, Semra

    2017-03-01

    The Miller-McKusick-Malvaux (3M) syndrome is a rare autosomal disorder that can lead to short stature, dysmorphic features, and skeletal abnormalities with normal intelligence. A 16-month-old female patient had been referred to our clinic due to short stature. Case history revealed a birth weight of 1740 grams on the 39 th week of gestation, with a birth length of 42 cm and no prior hereditary conditions of clinical significance in her family. On physical examination, her length was 67 cm [-3.6 standard deviation (SD) score], weight 7.2 kg (-2.9 SD score), and head circumference 42 cm (below 3 rd percentile). She also had numerous characteristic physical features such as a triangular face, fleshy nose tip, a long philtrum, prominent mouth and lips, pointed chin, lumbar lordosis, and prominent heels. As her growth retardation had a prenatal onset and the physical examination results were suggestive of a characteristic profile, the diagnosis of 3M syndrome was strongly considered. Genetic assessment of the patient revealed a novel homozygous p.T45Nfs*40 mutation in the OBSL1 gene. It is recommended that physicians pay further attention to this condition in the differential diagnosis of children with severe short stature.

  18. Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature.

    Science.gov (United States)

    Klaassens, Merel; Morrogh, Deborah; Rosser, Elisabeth M; Jaffer, Fatima; Vreeburg, Maaike; Bok, Levinus A; Segboer, Tim; van Belzen, Martine; Quinlivan, Ros M; Kumar, Ajith; Hurst, Jane A; Scott, Richard H

    2015-05-01

    De novo monoallelic variants in NFIX cause two distinct syndromes. Whole gene deletions, nonsense variants and missense variants affecting the DNA-binding domain have been seen in association with a Sotos-like phenotype that we propose is referred to as Malan syndrome. Frameshift and splice-site variants thought to avoid nonsense-mediated RNA decay have been seen in Marshall-Smith syndrome. We report six additional patients with Malan syndrome and de novo NFIX deletions or sequence variants and review the 20 patients now reported. The phenotype is characterised by moderate postnatal overgrowth and macrocephaly. Median height and head circumference in childhood are 2.0 and 2.3 standard deviations (SD) above the mean, respectively. There is overlap of the facial phenotype with NSD1-positive Sotos syndrome in some cases including a prominent forehead, high anterior hairline, downslanting palpebral fissures and prominent chin. Neonatal feeding difficulties and/or hypotonia have been reported in 30% of patients. Developmental delay/learning disability have been reported in all cases and are typically moderate. Ocular phenotypes are common, including strabismus (65%), nystagmus (25% ) and optic disc pallor/hypoplasia (25%). Other recurrent features include pectus excavatum (40%) and scoliosis (25%). Eight reported patients have a deletion also encompassing CACNA1A, haploinsufficiency of which causes episodic ataxia type 2 or familial hemiplegic migraine. One previous case had episodic ataxia and one case we report has had cyclical vomiting responsive to pizotifen. In individuals with this contiguous gene deletion syndrome, awareness of possible later neurological manifestations is important, although their penetrance is not yet clear.

  19. Tics and Tourette Syndrome

    Science.gov (United States)

    ... OTC Relief for Diarrhea Home Diseases and Conditions Tics and Tourette Syndrome Condition Tics and Tourette Syndrome Share Print Table of Contents1. ... little or no control over. These are called tics. Several different tics can happen at the same ...

  20. Stuttering and Tourette's Syndrome

    Science.gov (United States)

    ... written specifically for parents. - Understanding Tourette Syndrome: A Handbook for Educators published by The Tourette Syndrome Foundation ... Earl Jones Actor James Earl Jones, a Broadway, television and movie star, is well-known for his ...

  1. The obstetric antiphospholipid syndrome

    NARCIS (Netherlands)

    Derksen, R. H. W. M.; de Grootb, Ph. G.

    The association of persistent presence of circulating antiphospholipid antibodies and thromboembolic events, (recurrent) pregnancy loss or both is termed antiphospholipid syndrome. Pregnancies in women with the syndrome should be regarded as at high-risk for complications. Optimal management

  2. Prune belly syndrome

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/001269.htm Prune belly syndrome To use the sharing features on this page, please enable JavaScript. Prune belly syndrome is a group of birth defects that ...

  3. Oculoauriculovertebral dysplasia (Goldenhar's syndrome).

    Science.gov (United States)

    Nkrumah, F K

    1971-03-01

    A case of Goldenhar's Syndrome or Oculoauriculovertebral dysplasia in a Ghanaian infant is described. Significant were the additional findings of congenital esophageal atresia and arthrogryposis which have so far not been reported in association with the syndrome.

  4. Cri du chat syndrome

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/001593.htm Cri du chat syndrome To use the sharing features on this page, please enable JavaScript. Cri du chat syndrome is a group of symptoms that result ...

  5. Alport Syndrome Diagnosis

    Science.gov (United States)

    ... Groups Hear From the Experts Follow us on Facebook! Alport Syndrome Foundation of USA 2 days ago ... BIRTHDAY! ... See More See Less Photo View on Facebook · Share View on Facebook The Alport syndrome Foundation ...

  6. Terlipressin for hepatorenal syndrome

    DEFF Research Database (Denmark)

    Gluud, Lise Lotte; Christensen, Kurt; Christensen, Erik

    2012-01-01

    Clinical trials suggest that terlipressin improves renal function in hepatorenal syndrome, but the evidence concerning mortality is equivocal.......Clinical trials suggest that terlipressin improves renal function in hepatorenal syndrome, but the evidence concerning mortality is equivocal....

  7. Hermansky-Pudlak syndrome

    Directory of Open Access Journals (Sweden)

    Preena A

    2017-04-01

    Full Text Available Hermansky-Pudlak syndrome is a rare autosomal recessive multisystem disease, with oculocutneous albinism, pulmonary fibrosis and bleeding diathesis. Here we report a case of Hermansky-Pudlak syndrome who presented with dyspnea, oculocutaneous albinism and nystagmus.

  8. Loeys-Dietz Syndrome

    Science.gov (United States)

    ... The Marfan Foundation Marfan & Related Disorders What is Marfan Syndrome? What are Related Disorders? What are the Signs? ... Contact Us Donate Marfan & Related Disorders What is Marfan Syndrome? What are Related Disorders? What are the Signs? ...

  9. Marfan syndrome (image)

    Science.gov (United States)

    Marfan syndrome is a disorder of connective tissue which causes skeletal defects typically recognized in a tall, lanky person. A person with Marfan syndrome may exhibit long limbs and spider-like fingers, ...

  10. What is Down Syndrome?

    Science.gov (United States)

    ... Research Information Find a Study Resources and Publications Turner Syndrome Condition Information NICHD Research Information Find a ... years today. 4 Down syndrome is named after John Langdon Down, the first physician to describe the ...

  11. Hantavirus Pulmonary Syndrome (HPS)

    Science.gov (United States)

    ... to Yosemite FAQ: Non-U.S. Visitors to Yosemite History of HPS Related Links Prevent Rodent Infestations Cleaning Up After Rodents Diseases From Rodent Hantavirus Pulmonary Syndrome (HPS) Recommend on Facebook Tweet Share Compartir Hantavirus Pulmonary Syndrome (HPS) is ...

  12. Chediak-Higashi syndrome

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/001312.htm Chediak-Higashi syndrome To use the sharing features on this page, please enable JavaScript. Chediak-Higashi syndrome is a rare disease of the immune ...

  13. Complex regional pain syndrome

    Science.gov (United States)

    CRPS; RSDS; Causalgia - RSD; Shoulder-hand syndrome; Reflex sympathetic dystrophy syndrome; Sudeck atrophy; Pain - CRPS ... In: Cifu DX, ed. Braddom's Physical Medicine and Rehabilitation . 5th ed. Philadelphia, PA: Elsevier; 2016:chap 37.

  14. Klinefelter Syndrome (For Teens)

    Science.gov (United States)

    ... sexual development in guys. It's a genetic condition (meaning a person is born with it). Klinefelter syndrome ... Klinefelter syndrome may also have problems with attention, speech development, and learning word skills like spelling, reading, ...

  15. 4H Syndrome

    Science.gov (United States)

    ... syndrome? 4H syndrome is short for hypomyelination, hypogonadotropic hypogonadism and hypodontia. Hypomyelination means that there is lack ... myelin in the central nervous system. In hypogonadotropic hypogonadism, normal puberty development is absent because the central ...

  16. Moebius Syndrome Foundation

    Science.gov (United States)

    ... conference. If you ... READ MORE » The Foundation is Hiring! Posted by Kim Cunningham The Moebius Syndrome Foundation ... in individuals nor does it endorse particular medical professionals, treatments, products or services. The Moebius Syndrome Foundation ...

  17. Prader-Willi Syndrome

    Science.gov (United States)

    ... syndrome can be helpful in genetic counseling. Complications Obesity-related complications In addition to having constant hunger, ... result from Prader-Willi syndrome include: Effects of binge eating. Eating large amounts of food quickly, called binge ...

  18. Chinese restaurant syndrome

    Science.gov (United States)

    Chinese restaurant syndrome is a set of symptoms that some people have after eating Chinese food. A food additive ... Chinese restaurant syndrome is most often diagnosed based on the symptoms. The health care provider may ask the following ...

  19. Rothmund-Thomson Syndrome

    DEFF Research Database (Denmark)

    Suter, Aude-Annick; Itin, Peter; Heinimann, Karl

    2016-01-01

    BACKGROUND: Poikiloderma is defined as a chronic skin condition presenting with a combination of punctate atrophy, areas of depigmentation, hyperpigmentation and telangiectasia. In a variety of hereditary syndromes such as Rothmund-Thomson syndrome (RTS), Clericuzio-type poikiloderma...

  20. Coffin Lowry Syndrome

    Science.gov (United States)

    ... syndrome varies depending on the severity of symptoms. Early intervention may improve the outlook for patients. Life span ... syndrome varies depending on the severity of symptoms. Early intervention may improve the outlook for patients. Life span ...

  1. Obesity hypoventilation syndrome (OHS)

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000085.htm Obesity hypoventilation syndrome (OHS) To use the sharing features on this page, please enable JavaScript. Obesity hypoventilation syndrome (OHS) is a condition in some ...

  2. Polycystic Ovary Syndrome FAQ

    Science.gov (United States)

    f AQ FREQUENTLY ASKED QUESTIONS FAQ121 GYNECOLOGIC PROBLEMS Polycystic Ovary Syndrome (PCOS) • What are common signs and symptoms of polycystic ovary syndrome (PCOS)? • What causes PCOS? • What is insulin ...

  3. Polycystic ovary syndrome

    Science.gov (United States)

    Polycystic ovaries; Polycystic ovary disease; Stein-Leventhal syndrome; Polyfollicular ovarian disease; PCOS ... RL, Barnes RB, Ehrmann DA. Hyperandrogenism, hirsuitism, and polycystic ovary syndrome. In: Jameson JL, De Groot LJ, de ...

  4. Sexuality and Down Syndrome

    Science.gov (United States)

    ... NDSS Events Shop NDSS Contact NDSS > Resources > Sexuality Sexuality Sexuality & Down Syndrome Human sexuality encompasses an individual’s self- ... community standards for adult behavior. How Can Healthy Sexuality be Encouraged for Individuals with Down Syndrome? Creating ...

  5. Meconium aspiration syndrome

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/001596.htm Meconium aspiration syndrome To use the sharing features on this page, please enable JavaScript. Meconium aspiration syndrome (MAS) refers to breathing problems that a newborn ...

  6. Down Syndrome (For Kids)

    Science.gov (United States)

    ... Changed What's Life Like for Kids With Down Syndrome? Print en español El síndrome de Down You have probably seen people who have Down syndrome. They have certain physical features, such as a ...

  7. Carpal Tunnel Syndrome

    Science.gov (United States)

    ... a passing cramp? It could be carpal tunnel syndrome. The carpal tunnel is a narrow passageway of ... three times more likely to have carpal tunnel syndrome than men. Early diagnosis and treatment are important ...

  8. Guillain-Barre Syndrome

    Science.gov (United States)

    Guillain-Barre syndrome is a rare disorder that causes your immune system to attack your peripheral nervous system (PNS). The PNS ... your brain. No one knows what causes the syndrome. Sometimes it is triggered by an infection, surgery, ...

  9. Polycystic Ovary Syndrome

    Science.gov (United States)

    Polycystic ovary syndrome (PCOS) happens when a woman's ovaries or adrenal glands produce more male hormones than normal. PCOS causes cysts ( ... PCOS are at higher risk of diabetes, metabolic syndrome, heart disease, and high blood pressure. PCOS is ...

  10. Multiple Endocrine Neoplasia Syndromes

    Science.gov (United States)

    ... switch to the Professional version Home Hormonal and Metabolic Disorders Multiple Endocrine Neoplasia Syndromes Multiple Endocrine Neoplasia Syndromes Types Type 1 disease Type 2A disease Type 2B disease Diagnosis Treatment Resources In This Article Drugs Mentioned In This ...

  11. Hyperimmunoglobulin E syndrome

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/article/001311.htm Hyperimmunoglobulin E syndrome To use the sharing features on this page, please enable JavaScript. Hyperimmunoglobulin E syndrome is a rare, inherited disease. It causes ...

  12. [The Capgras syndrome].

    Science.gov (United States)

    Anikina, M A; Levin, O S

    2013-01-01

    The Capgras syndrome is one of delusional-like misidentification syndrome in which a person holds a delusion that one or several his/her friends or relatives have been replaced by an identical-looking impostor. As any other delusional disorder, the Capgras syndrome is characterized by stability despite the indisputable arguments against fault views. Initially, this syndrome was considered as a presentation of schizophrenia but later it has been described in brain organic disorders, primarily in elderly patients with dementia.

  13. Ogilvies syndrom efter sectio

    DEFF Research Database (Denmark)

    Schjoldager, B T; Sørensen, Jette Led; Svaerke, T

    2001-01-01

    Ogilvie's syndrome, acute pseudo-obstruction of the colon, can lead to perforation of the caecum and death. The syndrome is not well known and diagnosis can be difficult to make in time.......Ogilvie's syndrome, acute pseudo-obstruction of the colon, can lead to perforation of the caecum and death. The syndrome is not well known and diagnosis can be difficult to make in time....

  14. The wellness syndrome

    DEFF Research Database (Denmark)

    Mik-Meyer, Nanna

    2015-01-01

    Klumme. Wellness er blevet et syndrom, og dets symptomer er angst, selvbebrejdelser og skyldfølelse. Kommentar med udgangspunkt i: Carl Cederström & Andre Spicer, "The Wellness Syndrome" (Polity Books, 2015. 200 p.).......Klumme. Wellness er blevet et syndrom, og dets symptomer er angst, selvbebrejdelser og skyldfølelse. Kommentar med udgangspunkt i: Carl Cederström & Andre Spicer, "The Wellness Syndrome" (Polity Books, 2015. 200 p.)....

  15. Brugada syndrome

    Directory of Open Access Journals (Sweden)

    Priori Silvia G

    2006-09-01

    Full Text Available Abstract A novel clinical entity characterized by ST segment elevation in right precordial leads (V1 to V3, incomplete or complete right bundle branch block, and susceptibility to ventricular tachyarrhythmia and sudden cardiac death has been described by Brugada et al. in 1992. This disease is now frequently called "Brugada syndrome" (BrS. The prevalence of BrS in the general population is unknown. The suggested prevalence ranges from 5/1,000 (Caucasians to 14/1,000 (Japanese. Syncope, typically occurring at rest or during sleep (in individuals in their third or fourth decades of life is a common presentation of BrS. In some cases, tachycardia does not terminate spontaneously and it may degenerate into ventricular fibrillation and lead to sudden death. Both sporadic and familial cases have been reported and pedigree analysis suggests an autosomal dominant pattern of inheritance. In approximately 20% of the cases BrS is caused by mutations in the SCN5A gene on chromosome 3p21-23, encoding the cardiac sodium channel, a protein involved in the control of myocardial excitability. Since the use of the implantable cardioverter defibrillator (ICD is the only therapeutic option of proven efficacy for primary and secondary prophylaxis of cardiac arrest, the identification of high-risk subjects is one of the major goals in the clinical decision-making process. Quinidine may be regarded as an adjunctive therapy for patients at higher risk and may reduce the number of cases of ICD shock in patients with multiple recurrences.

  16. Klippel-Feil syndrome – the risk of cervical spinal cord injury: A case report

    Directory of Open Access Journals (Sweden)

    Singh Gurpreet

    2002-04-01

    Full Text Available Abstract Background Klippel-Feil syndrome is defined as congenital fusion of two or more cervical vertebrae and is believed to result from faulty segmentation along the embryo's developing axis during weeks 3–8 of gestation. Persons with Klippel-Feil syndrome and cervical stenosis may be at increased risk for spinal cord injury after minor trauma as a result of hypermobility of the various cervical segments. Persons with Klippel-Feil Syndrome often have congenital anomalies of the urinary tract as well. Case presentation A 51-year male developed incomplete tetraplegia in 1997 when he slipped and fell backwards hitting his head on the floor. X-rays of cervical spine showed fusion at two levels: C2 and C3 vertebrae, and C4 and C5 vertebrae. Intravenous urography (IVU revealed no kidneys in the renal fossa on both sides, but the presence of crossed, fused renal ectopia in the left ilio-lumbar region. This patient had a similar cervical spinal cord injury about 15 years ago, when he developed transient numbness and paresis of the lower limbs following a fall. Discussion and Conclusion 1 Persons with Klippel-Feil syndrome should be made aware of the increased risk of sustaining transient neurologic deterioration after minor trauma if there is associated radiographic evidence of spinal stenosis. 2 Patients with Klippel-Feil syndrome often have congenital anomalies of the urinary tract. Our patient had crossed, fused, ectopia of kidney. 3 When patients with Klippel-Feil syndrome sustain tetraplegia they have increased chances of developing urinary tract calculi. Treatment of kidney stones may pose a challenge because of associated renal anomalies. 4 Health professionals caring for cervical spinal cord injury patients with Klippel-Feil syndrome and renal anomalies should place emphasis on prevention of kidney stones. A large fluid intake is recommended for these patients, as a high intake of fluids is still the most powerful and certainly the most

  17. Sjogren's Syndrome Information Page

    Science.gov (United States)

    ... Trials Organizations Publications Definition Sjögren's syndrome is an autoimmune disorder in which immune cells attack and destroy the ... syndrome than men. × Definition Sjögren's syndrome is an autoimmune disorder in which immune cells attack and destroy the ...

  18. Gorlin-goltz syndrome

    International Nuclear Information System (INIS)

    Ahmed, N.; Salman, M.; Mansoor, M.A.

    2007-01-01

    Multiple jaw cysts are a characteristic manifestation of basal cell nevus (Gorlin) syndrome. Gorlin-Goltz syndrome is characterized by symptoms primarily involving the skin, central nervous system, and skeletal system. In 90% of the patients, nevoid basal cell carcinoma syndrome is associated with recurring odontogenic keratocysts. This patient showed recurrent jaw and maxillary cysts, for which he was followed for 2 years. (author)

  19. Diagnostik af Dravet syndrom

    DEFF Research Database (Denmark)

    Hansen, Lars Kjaersgård; Rasmussen, Niels Henrik; Ousager, Lilian Bomme

    2010-01-01

    Dravet syndrome is an epileptic syndrome of infancy. We describe the features of two cases with genetically verified SCNA1 mutations. The diagnosis was established rather late in one case. The epilepsies were medically intractable and the symptoms characteristic of Dravet syndrome. The children...

  20. Exophthalmos in Cushing's syndrome.

    Science.gov (United States)

    Kelly, W

    1996-08-01

    Exophthalmos was noted in 4 of the 12 patients reported by Harvey Cushing in 1932. Although exophthalmos has often been included in clinical descriptions, no previous study has reported actual measurements in patients with active and treated Cushing's syndrome, and in control patients. The aim of this study was to obtain these measurements. Thirty-one patients with active Cushing's syndrome (19 iatrogenic), 15 with treated Cushing's syndrome, 18 with Graves' ophthalmopathy, 59 control patients, and 3 patients with active Cushing's syndrome plus a family or personal history of thyroid disease. A consecutive series of patients with active and treated Cushing's syndrome were assessed. They were compared with patients with Graves' ophthalmopathy, and with control patients. Exophthalmos was assessed by the author using a Hertel meter. Urinary free cortisol was measured on patients with Cushing's syndrome, and serum thyroxine was estimated for them, and for the patients with Graves' ophthalmopathy. Exophthalmos exceeding 16 mm (> 2 SD above normal mean) was found in 45% of active Cushing's syndrome, 21% of iatrogenic Cushing's syndrome, 20% of treated Cushing's syndrome, 2% of normal controls, and 77% of patients with Graves' ophthalmopathy. No patient with Cushing's syndrome had significant symptoms due to exophthalmos. Patients with active Cushing's syndrome have statistically significant exophthalmos. This rarely causes symptoms, and diminishes when cortisol concentrations become normal. Cushing's syndrome and autoimmune thyroid disease may coexist in patients with exophthalmos.

  1. DIDMOAD (Wolfram Syndrome

    Directory of Open Access Journals (Sweden)

    Masoud Nashibi

    2016-07-01

    Full Text Available Wolfram syndrome was first described by physician D J Wolfram and Wagener in 1938. This autosomal recessive syndrome is also referred to as DIDMOAD syndrome which stands for Diabetes Insipidus, Insulin Dependent Diabetes Mellitus, Optic Atrophy and Deafness

  2. The acute radiation syndrome

    International Nuclear Information System (INIS)

    Souhami Filho, L.

    1985-01-01

    Symptoms and signs from medical aspects resulting from whole body exposure, or in the main part, to ionizing radiation are described. The dose-response relationship is studied and the exposure is divided in three parts: central nervous system syndrome, gastrointestinal syndrome and hematopoietic syndrome. Brief comments about the treatment are reported. (M.A.C.) [pt

  3. Post cardiac injury syndrome

    DEFF Research Database (Denmark)

    Nielsen, S L; Nielsen, F E

    1991-01-01

    The post-pericardiotomy syndrome is a symptom complex which is similar in many respects to the post-myocardial infarction syndrome and these are summarized under the diagnosis of the Post Cardiac Injury Syndrome (PCIS). This condition, which is observed most frequently after open heart surgery...

  4. Endoscopic release for carpal tunnel syndrome.

    Science.gov (United States)

    Vasiliadis, Haris S; Georgoulas, Petros; Shrier, Ian; Salanti, Georgia; Scholten, Rob J P M

    2014-01-31

    difference (SMD) -0.13, 95% CI -0.47 to 0.21) or on the Functional Status Scale (FSS) (scale zero to five) (five studies, SMD -0.23, 95% CI -0.60 to 0.14) within three months postoperatively between ECTR and OCTR. Pain scores favoured ECTR over conventional OCTR (two studies, SMD -0.41, 95% CI -0.65 to -0.18). No difference was found between ECTR and OCTR (standard and modified) when pain was assessed on non-continuous dichotomous scales (five studies, RR 0.69, 95% CI 0.33 to 1.45). Also, no difference was found in numbness (five studies, RR 1.14; 95% CI 0.76 to 1.71). Grip strength was increased after ECTR when compared with OCTR (six studies, SMD 0.36, 95% CI 0.09 to 0.63). This corresponds to a mean difference (MD) of 4 kg (95% CI 1 to 6.9 kg) when compared with OCTR, which is probably not clinically significant.In the long term (more than three months postoperatively) there was no significant difference in overall improvement between ECTR and OCTR (four studies, RR 1.04, 95% CI 0.95 to 1.14). SSS and FSS were also similar in both treatment groups (two studies, MD 0.02, 95% CI -0.18 to 0.22 for SSS and MD 0.01, 95% CI -0.14 to 0.16 for FSS). ECTR and OCTR did not differ in the long term in pain (six studies, RR 0.88, 95% CI 0.57 to 1.38) or in numbness (four studies, RR 0.64, 95% CI 0.31 to 1.35). Results from grip strength testing favoured ECTR (two studies, SMD 1.13, 95% CI 0.56 to 1.71), corresponding to an MD of 11 kg (95% CI 6.2 to 18.81). Participants treated with ECTR returned to work or daily activities eight days earlier than participants treated with OCTR (four studies, MD -8.10 days, 95% CI -14.28 to -1.92 days).Both treatments were equally safe with only a few reports of major complications (mainly with complex regional pain syndrome) (15 studies, RR 1.00, 95% CI 0.38 to 2.64).ECTR resulted in a significantly lower rate of minor complications (18 studies, RR 0.55, 95% CI 0.38 to 0.81), corresponding to a 45% relative drop in the probability of complications

  5. Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome).

    Science.gov (United States)

    Bresler, Scott C; Padwa, Bonnie L; Granter, Scott R

    2016-06-01

    Nevoid basal cell carcinoma syndrome, or basal cell nevus syndrome (Gorlin syndrome), is a rare autosomal dominantly inherited disorder that is characterized by development of basal cell carcinomas from a young age. Other distinguishing clinical features are seen in a majority of patients, and include keratocystic odontogenic tumors (formerly odontogenic keratocysts) as well as dyskeratotic palmar and plantar pitting. A range of skeletal and other developmental abnormalities are also often seen. The disorder is caused by defects in hedgehog signaling which result in constitutive pathway activity and tumor cell proliferation. As sporadic basal cell carcinomas also commonly harbor hedgehog pathway aberrations, therapeutic agents targeting key signaling constituents have been developed and tested against advanced sporadically occurring tumors or syndromic disease, leading in 2013 to FDA approval of the first hedgehog pathway-targeted small molecule, vismodegib. The elucidation of the molecular pathogenesis of nevoid basal cell carcinoma syndrome has resulted in further understanding of the most common human malignancy.

  6. Clinical Analysis about Treatment of Myofascial Pain Syndrome(MPS with Sweet Bee Venom on Hand Paresthesia based on Thoracic Outlet Syndrome

    Directory of Open Access Journals (Sweden)

    Sung-Won Oh

    2010-06-01

    Full Text Available Objectives: The objective of this study was to compare the effects of Sweet Bee Venom(Sweet BV Therapy between the hand paresthesia patients with Osteoporosis and without Osteoporosis. Methods: This study was carried out to established the clinical criteria of hand parethesia. The patients who had past history of diabeics, neuropathy induced by alcohol or drug and was positive on Myofacial Pain Syndrome Theory were excluded. 32 patients who had hand paresthesia related with unknown-reason was selected by the interview process. And the effects of treatment were analyzed using VAS score before treatment, after treatment, after 1 month and after 3 months. Results and conclusion: After treatment, While Osteoporosis group decrease from 64.81±17.81 to 27.21±17.32, Non-Osteoporosis group decrease from 58.76±11.43 to 24.74±13.81 by VAS scores. and After 3 months, While Osteoporosis group increase from 27.21±17.32 to 54.96±19.40, Non-Osteoporosis group increase from 24.74±13.81 to 32.43±15.57. Non-Osteoporosis group was accordingly more effective than Osteoporosis group after 3 months. So Sweet BV therapy for hand numbness patients without Osteoporosis was effective than patients with Osteoporosis.

  7. Concomitant presentation of carpal tunnel syndrome and trigger finger

    Directory of Open Access Journals (Sweden)

    Wollstein Ronit A

    2009-08-01

    Full Text Available Abstract Background Carpal tunnel syndrome (CTS and trigger finger (TF are common conditions that may occur in the same patient. The etiology of most cases is unknown. The purpose of this study was to evaluate the rate of concomitant occurrence of these two conditions at presentation and to compare the concomitant occurrence in normal and diabetic patients. Methods One-hundred and eight consecutive subjects presenting to our hand clinic with CTS and/or TF were evaluated. The existence of both of these conditions was documented through a standard history and physical examination. The definition of trigger finger was determined by tenderness over the A1 pulley, catching, clicking or locking. CTS was defined in the presence of at least two of the following: numbness and tingling in a median nerve distribution, motor and sensory nerve loss (median nerve, a positive Tinel's or Phalen's test and positive electrophysiologic studies. Results The average age of the participants was 62.2 ± 13.6 years. Sixty-seven patients presented with symptoms and signs of CTS (62%, 41 (38% subjects with signs and symptoms of TF. Following further evaluation, 66 patients (61% had evidence of concomitant CTS and TF. Fifty-seven patients (53% of all study patients had diabetes. The rate of subjects with diabetes was similar among the groups (p = 0.8, Chi-square test. Conclusion CTS and TF commonly occur together at presentation though the symptoms of one condition will be more prominent. Our results support a common local mechanism that may be unrelated to the presence of diabetes. We recommend evaluation for both conditions at the time of presentation.

  8. Mitochondrial disorder caused Charles Darwin's cyclic vomiting syndrome

    Directory of Open Access Journals (Sweden)

    Finsterer J

    2014-01-01

    Full Text Available Josef Finsterer,1 John Hayman21Krankenanstalt Rudolfstiftng, Vienna, Austria; 2Department of Pathology, University of Melbourne, Victoria, AustraliaBackground: Charles Darwin (CD, “father of modern biology,” suffered from multisystem illness from early adulthood. The most disabling manifestation was cyclic vomiting syndrome (CVS. This study aims at finding the possible cause of CVS in CD.Methods: A literature search using the PubMed database was carried out, and CD's complaints, as reported in his personal writings and those of his relatives, friends, colleagues, biographers, were compared with various manifestations of mitochondrial disorders (MIDs, known to cause CVS, described in the literature.Results: Organ tissues involved in CD's disease were brain, nerves, muscles, vestibular apparatus, heart, gut, and skin. Cerebral manifestations included episodic headache, visual disturbance, episodic memory loss, periodic paralysis, hysterical crying, panic attacks, and episodes of depression. Manifestations of polyneuropathy included numbness, paresthesias, increased sweating, temperature sensitivity, and arterial hypotension. Muscular manifestations included periods of exhaustion, easy fatigability, myalgia, and muscle twitching. Cardiac manifestations included episodes of palpitations and chest pain. Gastrointestinal manifestations were CVS, dental problems, abnormal seasickness, eructation, belching, and flatulence. Dermatological manifestations included painful lips, dermatitis, eczema, and facial edema. Treatments with beneficial effects to his complaints were rest, relaxation, heat, and hydrotherapy.Conclusion: CVS in CD was most likely due to a multisystem, nonsyndromic MID. This diagnosis is based upon the multisystem nature of his disease, the fact that CVS is most frequently the manifestation of a MID, the family history, the variable phenotypic expression between affected family members, the fact that symptoms were triggered by stress

  9. Nerve Decompression and Restless Legs Syndrome: A Retrospective Analysis

    Directory of Open Access Journals (Sweden)

    James C. Anderson

    2017-07-01

    Full Text Available IntroductionRestless legs syndrome (RLS is a prevalent sleep disorder affecting quality of life and is often comorbid with other neurological diseases, including peripheral neuropathy. The mechanisms related to RLS symptoms remain unclear, and treatment options are often aimed at symptom relief rather than etiology. RLS may present in distinct phenotypes often described as “primary” vs. “secondary” RLS. Secondary RLS is often associated with peripheral neuropathy. Nerve decompression surgery of the common and superficial fibular nerves is used to treat peripheral neuropathy. Anecdotally, surgeons sometimes report improved RLS symptoms following nerve decompression for peripheral neuropathy. The purpose of this retrospective analysis was to quantify the change in symptoms commonly associated with RLS using visual analog scales (VAS.MethodsForty-two patients completed VAS scales (0–10 for pain, burning, numbness, tingling, weakness, balance, tightness, aching, pulling, cramping, twitchy/jumpy, uneasy, creepy/crawly, and throbbing, both before and 15 weeks after surgical decompression.ResultsSubjects reported significant improvement among all VAS categories, except for “pulling” (P = 0.14. The change in VAS following surgery was negatively correlated with the pre-surgery VAS for both the summed VAS (r = −0.58, P < 0.001 and the individual VAS scores (all P < 0.01, such that patients who reported the worst symptoms before surgery exhibited relatively greater reductions in symptoms after surgery.ConclusionThis is the first study to suggest improvement in RLS symptoms following surgical decompression of the common and superficial fibular nerves. Further investigation is needed to quantify improvement using RLS-specific metrics and sleep quality assessments.

  10. Barth syndrome

    Directory of Open Access Journals (Sweden)

    Clarke Sarah LN

    2013-02-01

    Full Text Available Abstract First described in 1983, Barth syndrome (BTHS is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM, skeletal myopathy, growth delay, neutropenia and increased urinary excretion of 3-methylglutaconic acid (3-MGCA. Fewer than 200 living males are known worldwide, but evidence is accumulating that the disorder is substantially under-diagnosed. Clinical features include variable combinations of the following wide spectrum: dilated cardiomyopathy (DCM, hypertrophic cardiomyopathy (HCM, endocardial fibroelastosis (EFE, left ventricular non-compaction (LVNC, ventricular arrhythmia, sudden cardiac death, prolonged QTc interval, delayed motor milestones, proximal myopathy, lethargy and fatigue, neutropenia (absent to severe; persistent, intermittent or perfectly cyclical, compensatory monocytosis, recurrent bacterial infection, hypoglycaemia, lactic acidosis, growth and pubertal delay, feeding problems, failure to thrive, episodic diarrhoea, characteristic facies, and X-linked family history. Historically regarded as a cardiac disease, BTHS is now considered a multi-system disorder which may be first seen by many different specialists or generalists. Phenotypic breadth and variability present a major challenge to the diagnostician: some children with BTHS have never been neutropenic, whereas others lack increased 3-MGCA and a minority has occult or absent CM. Furthermore, BTHS was first described in 2010 as an unrecognised cause of fetal death. Disabling mutations or deletions of the tafazzin (TAZ gene, located at Xq28, cause the disorder by reducing remodeling of cardiolipin, a principal phospholipid of the inner mitochondrial membrane. A definitive biochemical test, based on detecting abnormal ratios of different cardiolipin species, was first described in 2008. Key areas of differential diagnosis include metabolic and viral cardiomyopathies, mitochondrial diseases, and many causes of neutropenia and

  11. [The Othello syndrome].

    Science.gov (United States)

    Alarcon, R

    1980-12-01

    A case is described and 7 others are discussed of the Othello Syndrome, characterized by cognitive, affective and conative manifestations plus non-specific psychosomatic accesory symptoms. The nuclear symptom is the delusional or delusion-like idea of jealousy. The syndrome is seen in both sexes, as part of a number of clinical entities (paranoia, psychoses, organic brain syndromes, neuroses and personality disorders). Premorbid personality and family history are always abnormal. Cases of cocaine abuse, involutional melancholia and borderline syndrome are remarkers. The management of this syndrome and of its social sequelae is emphasized.

  12. Gorlin-Goltz Syndrome

    Directory of Open Access Journals (Sweden)

    Padma Pandeshwar

    2012-01-01

    Full Text Available The Gorlin-Goltz syndrome (GGS (the nevoid basal cell carcinoma syndrome—NBCCS is a rare autosomal dominant syndrome caused due to mutations in the PTCH (patched gene found on chromosome arm 9q. The syndrome, characterized by increased predisposition to develop basal cell carcinoma and associated multiorgan anomalies, has a high level of penetrance and variable expressiveness. GGS is a multidisciplinary problem, early diagnosis of which allows introduction of secondary prophylaxis and following an appropriate treatment to delay the progress of the syndrome. The following report emphasizes the need for awareness of the diagnostic criteria of this syndrome in cases with no typical skin lesions.

  13. Posterior reversible encephalopathy syndrome following elevated mean arterial pressures for cervical spinal cord injury.

    Science.gov (United States)

    Zimering, Jeffrey H; Mesfin, Addisu

    2018-01-01

    Increasing the mean arterial pressure (MAP) is an accepted treatment modality to minimize the risk for irreversible neurologic damage secondary to spinal cord ischemia. Posterior reversible encephalopathy syndrome (PRES) is a rare complication occurring after transplantation surgery, in persons having an autoimmune disorder or after abrupt increases in blood pressure of various etiologies. Case report. Retrospective evaluation of medical records. A 68-year-old female with long-standing diabetes, and rheumatoid arthritis (treated with methotrexate) presented with bilateral upper extremity weakness and numbness developing several days after a motor vehicle accident. Physical examination confirmed decreased upper extremity motor strength and decreased sensation to light touch and pinprick in the C5-C6 dermatomal distribution. Magnetic resonance imaging (MRI) demonstrated C5-C6 subluxation with spinal cord compression. The patient had traction applied and mean arterial pressures were elevated greater than 85 mmg. The following day the patient underwent anterior and posterior cervical spine fusion and decompression. Immediately post-operatively, the patient developed status epilepticus. Head MRI revealed areas of high T2 signal intensity in the bilateral occipital lobes, consistent with a diagnosis of PRES. Two weeks later, the patient had resolution of her symptoms and resolution of PRES on imaging. This is the first report of posterior reversible encephalopathy syndrome secondary to therapeutic blood pressure increase in the setting of cervical spine fracture with neurological deficits. The patients had resolution of symptoms following discontinuation of the MAP goals. Posterior reversible encephalopathy syndrome (PRES) is a life-threatening condition characterized by seizures, confusion, visual disturbance, and headaches alongside neuroradiological findings indicative of posterior cerebral hemispheric white matter edema. 1,2 PRES has been described in association

  14. A Case of Waterhouse-Friderichsen Syndrome Resulting from an Invasive Pneumococcal Infection in a Patient with a Hypoplastic Spleen

    Directory of Open Access Journals (Sweden)

    Kazumasa Emori

    2016-01-01

    Full Text Available A 50-year-old male was brought to our emergency department by ambulance with complaints of pain and numbness in both legs. At arrival, purple spots were evident on his neck and face. Examination of the vital sign indicated septic shock. Laboratory data and blood gas analysis revealed disseminated intravascular coagulation, multiple organ failure, and metabolic acidosis. Peripheral blood smears revealed Howell-Jolly bodies, indicating decreased splenic function. A rapid urinary pneumococcal antigen test was also found to be positive. After admission to the intensive care unit, extensive treatment, including polymyxin-B direct hemoperfusion and administration of methylprednisolone and broad spectrum antibiotics was immediately initiated. Despite of our efforts to save his life, the patient died six hours after the arrival. The following day, blood cultures revealed the presence of Streptococcus pneumoniae. An autopsy revealed a hypoplastic spleen and a bilateral adrenal hemorrhage, indicating acute adrenal insufficiency caused by sepsis. Finally, the patient was diagnosed with Waterhouse-Friderichsen syndrome. Although severe infection may be seen in the splenectomized patients, it should be noted that patients with a hypoplastic spleen may have acute severe infections. We, therefore, report a case of Waterhouse-Friderichsen syndrome resulting from an invasive pneumococcal infection in a patient with a hypoplastic spleen.

  15. A Case of Waterhouse-Friderichsen Syndrome Resulting from an Invasive Pneumococcal Infection in a Patient with a Hypoplastic Spleen.

    Science.gov (United States)

    Emori, Kazumasa; Takeuchi, Nobuhiro; Soneda, Junichi

    2016-01-01

    A 50-year-old male was brought to our emergency department by ambulance with complaints of pain and numbness in both legs. At arrival, purple spots were evident on his neck and face. Examination of the vital sign indicated septic shock. Laboratory data and blood gas analysis revealed disseminated intravascular coagulation, multiple organ failure, and metabolic acidosis. Peripheral blood smears revealed Howell-Jolly bodies, indicating decreased splenic function. A rapid urinary pneumococcal antigen test was also found to be positive. After admission to the intensive care unit, extensive treatment, including polymyxin-B direct hemoperfusion and administration of methylprednisolone and broad spectrum antibiotics was immediately initiated. Despite of our efforts to save his life, the patient died six hours after the arrival. The following day, blood cultures revealed the presence of Streptococcus pneumoniae. An autopsy revealed a hypoplastic spleen and a bilateral adrenal hemorrhage, indicating acute adrenal insufficiency caused by sepsis. Finally, the patient was diagnosed with Waterhouse-Friderichsen syndrome. Although severe infection may be seen in the splenectomized patients, it should be noted that patients with a hypoplastic spleen may have acute severe infections. We, therefore, report a case of Waterhouse-Friderichsen syndrome resulting from an invasive pneumococcal infection in a patient with a hypoplastic spleen.

  16. Postural Orthostatic Tachycardia With Chronic Fatigue After HPV Vaccination as Part of the “Autoimmune/Auto-inflammatory Syndrome Induced by Adjuvants”

    Directory of Open Access Journals (Sweden)

    Lucija Tomljenovic PhD

    2014-03-01

    Full Text Available We report the case of a 14-year-old girl who developed postural orthostatic tachycardia syndrome (POTS with chronic fatigue 2 months following Gardasil vaccination. The patient suffered from persistent headaches, dizziness, recurrent syncope, poor motor coordination, weakness, fatigue, myalgias, numbness, tachycardia, dyspnea, visual disturbances, phonophobia, cognitive impairment, insomnia, gastrointestinal disturbances, and a weight loss of 20 pounds. The psychiatric evaluation ruled out the possibility that her symptoms were psychogenic or related to anxiety disorders. Furthermore, the patient tested positive for ANA (1:1280, lupus anticoagulant, and antiphospholipid. On clinical examination she presented livedo reticularis and was diagnosed with Raynaud’s syndrome. This case fulfills the criteria for the autoimmune/auto-inflammatory syndrome induced by adjuvants (ASIA. Because human papillomavirus vaccination is universally recommended to teenagers and because POTS frequently results in long-term disabilities (as was the case in our patient, a thorough follow-up of patients who present with relevant complaints after vaccination is strongly recommended.

  17. Cardiorenal Syndrome in Acute Heart Failure Syndromes

    Directory of Open Access Journals (Sweden)

    Mohammad Sarraf

    2011-01-01

    Full Text Available Impaired cardiac function leads to activation of the neurohumoral axis, sodium and water retention, congestion and ultimately impaired kidney function. This sequence of events has been termed the Cardiorenal Syndrome. This is different from the increase in cardiovascular complications which occur with primary kidney disease, that is, the so-called Renocardiac Syndrome. The present review discusses the pathogenesis of the Cardiorenal Syndrome followed by the benefits and potential deleterious effects of pharmacological agents that have been used in this setting. The agents discussed are diuretics, aquaretics, natriuretic peptides, vasodilators, inotropes and adenosine α1 receptor antagonists. The potential role of ultrafiltration is also briefly discussed.

  18. Comfortably numb: Desensitizing effects of violent media on helping others

    NARCIS (Netherlands)

    Bushman, B.J.; Anderson, C.A.

    2009-01-01

    Two studies tested the hypothesis that exposure to violent media reduces aid offered to people in pain. In Study 1, participants played a violent or nonviolent video game for 20 min. After game play, while completing a lengthy questionnaire, they heard a loud fight, in which one person was injured,

  19. Emotionally Numb: Desensitization to Community Violence Exposure among Urban Youth

    Science.gov (United States)

    Kennedy, Traci M.; Ceballo, Rosario

    2016-01-01

    Community violence exposure (CVE) is associated with numerous psychosocial outcomes among youth. Although linear, cumulative effects models have typically been used to describe these relations, emerging evidence suggests the presence of curvilinear associations that may represent a pattern of emotional desensitization among youth exposed to…

  20. Clinical analysis of 48 cases with Guillain-Barré syndrome

    Directory of Open Access Journals (Sweden)

    Jie-xi WEN

    2016-09-01

    Full Text Available Forty-eight patients diagnosed as Guillain-Barré syndrome (GBS in our hospital were retrospectively analyzed, including clinical manifestations, laboratory tests, neuroelectrophysiological tests, treatment and prognosis. In these patients, 81.25% (39/48 started with limb weakness or numbness, especially prominent for both lower limbs; 93.75% (45/48 had decreased or disappeared tendon reflex. Cerebrospinal fluid (CSF tests showed albumin-cytological dissection in 38 patients. Neuroelectrophysiological tests in 42 patients revealed that the conduction velocity of F wave was decreased or was not elicited, the conduction velocity of motor and sensory nerves slowed down, and compound muscle action potential (CMAP amplitude decreased. A total of 43 patients received intravenous immunoglobulin (IVIg, and 97.67% (42/43 showed improved muscle strength after treatment. A few patients showed atypical signs and symptoms for GBS, such as unilateral facial hypalgesia and positive pathological signs. Clinical manifestations, laboratory tests and neuroelectrophysiological tests should be combined to make early diagnosis and improve the prognosis. DOI: 10.3969/j.issn.1672-6731.2016.09.011

  1. Congenital cervical dermal sinus tract caused tethered cord syndrome in an adult: a case report.

    Science.gov (United States)

    Karatas, Y; Ustun, M E

    2015-01-01

    The objective of this study was to report on a 34-year-old woman who presented with tethered cord syndrome due to dermal sinüs tract. A 34-year-old woman had got dermal sınüs tract admitted to our hospital with swelling on the neck, pain and numbness on the left upper limb. She was treated by surgical removal of dermal sinuses and untethering the spinal cord which is stretched by the dermal sinus. Congenital dermal sinus tracts are uncommon types of cranial and spinal dysraphisms. They can occur in the midline of the craniospinal axis from the occiput to the sacral region. For dermal sinuses, cervical region is very rare location that is reported in the literature. They are diagnosed usually in childhood with skin signs, neurological deficits, local infections and meningitis. We present a rare case of dermal sinus tract located in cervical region. Early diagnosis and treatment of cervical dermal sinus tract are important to prevent neurological deficits.

  2. [Menopause and metabolic syndrome].

    Science.gov (United States)

    Meirelles, Ricardo M R

    2014-03-01

    The incidence of cardiovascular disease increases considerably after the menopause. One reason for the increased cardiovascular risk seems to be determined by metabolic syndrome, in which all components (visceral obesity, dyslipidemia, hypertension, and glucose metabolism disorder) are associated with higher incidence of coronary artery disease. After menopause, metabolic syndrome is more prevalent than in premenopausal women, and may plays an important role in the occurrence of myocardial infarction and other atherosclerotic and cardiovascular morbidities. Obesity, an essential component of the metabolic syndrome, is also associated with increased incidence of breast, endometrial, bowel, esophagus, and kidney cancer. The treatment of metabolic syndrome is based on the change in lifestyle and, when necessary, the use of medication directed to its components. In the presence of symptoms of the climacteric syndrome, hormonal therapy, when indicated, will also contribute to the improvement of the metabolic syndrome.

  3. Gorlin-goltz syndrome

    Directory of Open Access Journals (Sweden)

    B V Shobha

    2011-01-01

    Full Text Available Gorlin-Goltz syndrome also known as nevoid basal cell carcinoma syndrome (NBCCS is an infrequent multisystemic disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterized by keratocystic odontogenic tumors (KCOT in the jaw, multiple basal cell carcinomas and skeletal abnormalities. This syndrome may be diagnosed early by a dentist by routine radiographic examination in the first decade of life, as KCOTs are usually one of the first manifestations of the NBCCS syndrome. This article reports the case of a 12-year-old girl with Gorlin-Goltz syndrome, emphasizing its clinical and radiographic manifestation. This study highlights the importance of health professionals in the early diagnosis of this syndrome and a multidisciplinary approach to provide a better diagnosis and prognosis.

  4. Mobius syndrome: MRI features

    International Nuclear Information System (INIS)

    Markarian, Maria F.; Villarroel, Gonzalo M.; Nagel, Jorge R.

    2003-01-01

    Purpose: Mobius Syndrome or congenital facial diplegia is associated with paralysis of the lateral gaze movements. This syndrome may include other cranial nerve palsies and be associated to musculoskeletal anomalies. Our objective is to show the MRI findings in Mobius Syndrome. Material and methods: MRI study was performed in 3 patients with clinic diagnosis of Mobius Syndrome. RMI (1.5T); exams included axial FSE (T1 and T2), FLAIR, SE/EPI, GRE/20, sagittal FSE T2 , coronal T1, diffusion, angio MRI and Spectroscopy sequences. Results: The common features of this syndrome found in MRI were: depression or straightening of the floor of the fourth ventricle, brainstem anteroposterior diameter diminution, morphologic alteration of the pons and medulla oblongata and of the hypoglossal nuclei as well as severe micrognathia. Conclusion: The morphologic alterations of Mobius Syndrome can be clearly identified by MRI; this method has proved to be a useful diagnostic examination. (author)

  5. Do you know this syndrome? Você conhece esta síndrome?

    Directory of Open Access Journals (Sweden)

    Gabriela Maria Abreu Gontijo

    2013-04-01

    Full Text Available The Bourneville-Pringle syndrome is an autosomal dominant neurocutaneous disorder characterized by the development of multiple hamartomas in various systems, especially brain, skin, retina, kidney, heart and lung. The case of a patient with brownish plaques on the forehead and temporal region, pink malar and chin papules, and hypopigmented macules on the back and trunk is described. The diagnosis of the Bourneville-Pringle syndrome is based on clinical criteria. Presence of two major criteria, such as facial angiofibromas, forehead fibrous plaques, three or more hypomelanotic macules establish the definitive diagnosis. The diagnosis should be made as early as possible in order to assess and treat the associated complications.A Síndrome de Bourneville-Pringle é desordem neurocutânea autossômica dominante caracterizada pelo desenvolvimento de hamartomas múltiplos em vários locais do corpo, especialmente cérebro, pele, retina, rim, coração e pulmão. Descreve-se caso de paciente com placas acastanhadas na fronte e região temporal, pápulas róseas na região malar e mento e máculas hipocrômicas no dorso e tronco. O diagnóstico da síndrome Bourneville-Pringle é baseado em critérios clínicos. Presença de dois critérios maiores, como angiofibromas faciais, placas fibrosas frontais e 3 ou mais máculas hipomelanóticas estabelecem o diagnóstico definitivo. Devese fazer o diagnóstico o mais precocemente possível para que as complicações associadas sejam avaliadas e tratadas.

  6. Metabolic syndrome and menopause

    OpenAIRE

    Jouyandeh, Zahra; Nayebzadeh, Farnaz; Qorbani, Mostafa; Asadi, Mojgan

    2013-01-01

    Abstract Background The metabolic syndrome is defined as an assemblage of risk factors for cardiovascular diseases, and menopause is associated with an increase in metabolic syndrome prevalence. The aim of this study was to assess the prevalence of metabolic syndrome and its components among postmenopausal women in Tehran, Iran. Methods In this cross-sectional study in menopause clinic in Tehran, 118 postmenopausal women were investigated. We used the adult treatment panel 3 (ATP3) criteria t...

  7. Melkersson-rosenthal syndrome

    OpenAIRE

    Sharma, Dev Raj; Resident, Sr.; Mohan, C.; Minnas, R. S.; Mohindroo, N. K.; Sharma, M. L.

    1999-01-01

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

  8. Genetics Home Reference: Poland syndrome

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Poland syndrome Poland syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Poland syndrome is a disorder in which affected individuals ...

  9. Genetics Home Reference: DOORS syndrome

    Science.gov (United States)

    ... This Page Campeau PM, Hennekam RC; DOORS syndrome collaborative group. DOORS syndrome: phenotype, genotype and comparison with ... M. DOOR syndrome: clinical report, literature review and discussion of natural history. Am J Med Genet A. ...

  10. Genetics Home Reference: Marfan syndrome

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Marfan syndrome Marfan syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Marfan syndrome is a disorder that affects the connective tissue ...

  11. Toxic Shock Syndrome (For Teens)

    Science.gov (United States)

    ... Safe Videos for Educators Search English Español Toxic Shock Syndrome KidsHealth / For Teens / Toxic Shock Syndrome What's ... it, then take some precautions. What Is Toxic Shock Syndrome? If you're a girl who's had ...

  12. Genetics Home Reference: Waardenburg syndrome

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Waardenburg syndrome Waardenburg syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Waardenburg syndrome is a group of genetic conditions that can ...

  13. Genetics Home Reference: Wolfram syndrome

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Wolfram syndrome Wolfram syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Wolfram syndrome is a condition that affects many of the ...

  14. Irritable Bowel Syndrome

    Science.gov (United States)

    ... Causes Diagnosis Treatment Eating, Diet, & Nutrition Clinical Trials Diverticular Disease Definition & Facts Symptoms & Causes Diagnosis Treatment Eating, Diet, & Nutrition Clinical Trials Dumping Syndrome ...

  15. [Neurobiology of Tourette Syndrome].

    Science.gov (United States)

    Ünal, Dilek; Akdemir, Devrim

    2016-01-01

    Tourette Syndrome (TS) is a neurodevelopmental disorder characterized by chronic motor and vocal tics. Although it is a common disorder in childhood, the etiology of Tourette Syndrome has not been fully elucidated yet. Studies, -conducted so far- have revealed differences in neurobiological structures of individuals who suffer from Tourette Syndrome. The objective of this review is to assess etiological and pathophysiological studies in the Tourette Syndrome literature. An electronical search was conducted in PubMed database using the keywords tic disorders, Tourette Syndrome, neurobiology, genetics, neuroimaging and animal models. Research and review studies published between 1985 and 2015, with a selection preference towards recent publications, were reviewed. According to the studies, genetic predisposition hypothesis is considered as a priority. However, a precise genetic disorder associated with Tourette Syndrome has not been found. The evidence from postmortem and neuroimaging studies in heterogenous patient groups and animal studies supports the pathological involvement of cortico-striato-thalamo-cortical (CSTC) circuits in Tourette Syndrome. Consequently, the most emphasized hypothesis in the pathophysiology is the dopaminergic dysfunction in these circuits. Furthermore, these findings of the animal, postmortem and neuroimaging studies have confirmed the neurodevelopmental hypothesis of Tourette Syndrome. In conclusion, more studies are needed to understand the etiology of the disorder. The data obtained from neurobiological studies of the disorder will not only shed light on the way of Tourette Syndrome, but also guide studies on its treatment options.

  16. Vertebral Artery Stump Syndrome.

    Science.gov (United States)

    Suzuki, Masato; Dembo, Tomohisa; Hara, Wataru; Tajima, Takashi; Yamashita, Minako; Oji, Satoru; Nomura, Kyoichi

    2018-03-01

    Carotid stump syndrome is a well-documented embolic source for ischemic stroke. However, few cases have been reported of a similar condition - termed vertebral artery stump syndrome - which affects the posterior circulation after vertebral artery origin occlusion. We herein report a case of infarction of the right superior cerebellar artery and left posterior inferior cerebellar artery territories due to vertebral artery stump syndrome. In this interesting case, a turbulent flow at the distal side of the vertebral artery occlusion was captured on ultrasonography, and was identified as the probable mechanism of vertebral artery stump syndrome.

  17. Polyposis syndromes: pediatric implications.

    Science.gov (United States)

    Hyer, W

    2001-10-01

    The diagnosis of a polyposis syndrome, such as juvenile polyposis, Peutz-Jeghers syndrome, and familial adenomatous polyposis, requires knowledge of the site, number, and histologic type of the polyps and an appreciation of relevant family history. Children and adolescents with polyposis syndromes are faced with not only the immediate complications of the polyps, such as intussusception or bleeding, but also the extraintestinal manifestations and the long-term risk for malignancy. This article reviews the diagnosis, clinical management, surveillance, and surgical options for children with polyposis syndromes and discusses genetics and appropriate screening programs.

  18. Capgras' syndrome with organic disorders.

    Science.gov (United States)

    Collins, M. N.; Hawthorne, M. E.; Gribbin, N.; Jacobson, R.

    1990-01-01

    Capgras' syndrome, one form of the delusional misidentification syndromes, is described. Three patients with the syndrome are reported. The first had a right cerebral infarction, the second had nephrotic syndrome secondary to severe pre-eclampsia in the puerperium, and the third had uncontrolled diabetes mellitus with dementia. Evidence is reviewed regarding an organic aetiology for Capgras' syndrome. We conclude that, when the syndrome is present, a thorough search for organic disorder should be made. PMID:2084656

  19. Metabolic syndrome in acute coronary syndrome

    International Nuclear Information System (INIS)

    Bhalli, M.A.; Aamir, M.; Mustafa, G.

    2011-01-01

    Objective: To determine the frequency of metabolic syndrome in male patients presenting with acute coronary syndrome Study design: A Descriptive study Place and duration of study: Armed Forces Institute of Cardiology and National Institute of Heart Diseases, Rawalpindi, from October 2007 to September 2008 Patients and Methods: Male patients with acute coronary syndrome (ACS) were included. Patients having angioplasty (PCI), coronary artery bypass surgery in the past and other co-morbid diseases were excluded. All patients were assessed for the presence of five components of metabolic syndrome including hypertension, HDL-Cholesterol and triglycerides, glucose intolerance and abdominal obesity. Systolic, diastolic blood pressures, waist circumference (WC) and body mass index (BMI) were measured. ECG, cardiac enzymes, fasting glucose and lipid profile were also done. Results: A total of 135 male patients of ACS were studied with a mean age of 54.26 +- 11 years. Metabolic syndrome (MS) was present in 55 (40.7%) patients. MS with all five components was documented in 4 (7.27%) while MS with four and three components was seen in 23 (41.81%) and 28 (50.90%) patients respectively. Only 24 (43.63%) patients with MS had diabetes mellitus, remaining 31(56.36%) were non diabetic. Frequencies of diabetes, hypertension and family history of CAD were significantly higher (p<0.05) in patients with metabolic syndrome as compared to patients with normal metabolic status. Conclusion: Metabolic syndrome is fairly common and important risk factor in patients of IHD. Other risk factors like smoking, dyslipidemia, hypertension and diabetes were also frequently found. Public awareness to control the risk factors can reduce the prevalence of CAD in our country. (author)

  20. De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila.

    Science.gov (United States)

    Lugtenberg, Dorien; Reijnders, Margot R F; Fenckova, Michaela; Bijlsma, Emilia K; Bernier, Raphael; van Bon, Bregje W M; Smeets, Eric; Vulto-van Silfhout, Anneke T; Bosch, Danielle; Eichler, Evan E; Mefford, Heather C; Carvill, Gemma L; Bongers, Ernie M H F; Schuurs-Hoeijmakers, Janneke Hm; Ruivenkamp, Claudia A; Santen, Gijs W E; van den Maagdenberg, Arn M J M; Peeters-Scholte, Cacha M P C D; Kuenen, Sabine; Verstreken, Patrik; Pfundt, Rolph; Yntema, Helger G; de Vries, Petra F; Veltman, Joris A; Hoischen, Alexander; Gilissen, Christian; de Vries, Bert B A; Schenck, Annette; Kleefstra, Tjitske; Vissers, Lisenka E L M

    2016-08-01

    Recently WAC was reported as a candidate gene for intellectual disability (ID) based on the identification of a de novo mutation in an individual with severe ID. WAC regulates transcription-coupled histone H2B ubiquitination and has previously been implicated in the 10p12p11 contiguous gene deletion syndrome. In this study, we report on 10 individuals with de novo WAC mutations which we identified through routine (diagnostic) exome sequencing and targeted resequencing of WAC in 2326 individuals with unexplained ID. All but one mutation was expected to lead to a loss-of-function of WAC. Clinical evaluation of all individuals revealed phenotypic overlap for mild ID, hypotonia, behavioral problems and distinctive facial dysmorphisms, including a square-shaped face, deep set eyes, long palpebral fissures, and a broad mouth and chin. These clinical features were also previously reported in individuals with 10p12p11 microdeletion syndrome. To investigate the role of WAC in ID, we studied the importance of the Drosophila WAC orthologue (CG8949) in habituation, a non-associative learning paradigm. Neuronal knockdown of Drosophila CG8949 resulted in impaired learning, suggesting that WAC is required in neurons for normal cognitive performance. In conclusion, we defined a clinically recognizable ID syndrome, caused by de novo loss-of-function mutations in WAC. Independent functional evidence in Drosophila further supported the role of WAC in ID. On the basis of our data WAC can be added to the list of ID genes with a role in transcription regulation through histone modification.

  1. A Procedural Guide on Sick Building Syndrome.

    Science.gov (United States)

    1987-03-01

    tower manufacturer’s recommended maintenance procedures. 9 b. Control the propagation of slime , algae and bacteria with the use of a registered general...purpose microbiocide. Accumulation of bacterial slimes and similar biofouling can be considered controlled when the total bacterial plate count...lightheadedness, dizziness, weakness, numbness and panic. The sensation of the heart racing may lead to fears of nea-t attack. More panic may ensue and

  2. [17p13.3 duplication as a cause of psychomotor developmental delay in an infant - a further case of a new syndrome].

    Science.gov (United States)

    Przybylska-Kruszewska, Amanda; Kutkowska-Kaźmierczak, Anna; Krzywdzińska, Amanda; Smyk, Marta; Nowakowska, Beata; Gryglicka, Halina; Obersztyn, Ewa; Hozyasz, Kamil K

    2016-04-01

    17p13.3 duplication is a rare and heterogeneous genetic syndrome. Microdeletions of this region are responsible for the symptoms of Miller-Dieker syndrome. We present a case of 17p13.3 duplication consisting of about 730kb in a patient with psychomotor developmental delay, concerning eye-hand coordination, posture, locomotion and speech. Among other symptoms, we found excessive physical development in relation to age, hypotonia, dysmorphic facial features (high and prominent forehead, low-set ears, hypertelorism, short nose, small upturned nose, narrow lips and pointed chin) and discrete changes in the CNS - enhanced frontal horns of the lateral ventricles and quite narrow corpus callosum. These symptoms overlap with phenotype of previously described patients with 17p13.3 duplication. The aberration has been identified by array comparative genomic hybridization (aCGH) and confirmed by fluorescence in situ hybridization (FISH). This publication presents a detailed, comparative characteristic of clinical fetures expression in discussed patient with 17p13.3 duplication and patients previously described in medical literature. Further cases with different variants of 17p13.3 duplication may contribute to characterise the specific genotypephenotype correlation. © 2016 MEDPRESS.

  3. [Muir-Torre syndrome and Turcot syndrome].

    Science.gov (United States)

    Velter, C; Caussade, P; Fricker, J-P; Cribier, B

    Lynch syndrome (LS) is a syndrome that carries a genetic predisposition to certain cancers associating, either in a single individual or in a family, a visceral tumour, mainly colorectal, with a high risk of other synchronous or metachronous cancers. LS is linked with mutations in the genes coding for proteins in the DNA repair system. Phenotypic variants of SL exist, including Muir-Torre syndrome (MTS) and Turcot syndrome (TS), both of which predispose to colorectal cancer. They may be distinguished by the presence of benign or malignant sebaceous tumours in MTS, and tumours of the central nervous system in TS. A 59-year-old man, with a history of right colon cancer at the age of 36 years, consulted for a nose lesion shown by histopathological examination to be a sebaceous tumour. Immunohistochemistry revealed loss of expression of proteins MSH2 and MSH6, strongly suggesting a diagnosis of MTS. Eight years earlier, the man's son had developed a fatal glioblastoma; given the paternal phenotype of MTS, the hypothesis of TS in the son is probable. This case suggests that several variants of Lynch syndrome may be seen within the same family. It raises the issue of screening for cerebral tumours in patients with MTS and in their family members, even though such a recommendation does not exist; current recommendations in fact consist primarily of gastrointestinal and gynaecological monitoring. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  4. Wolfram syndrome 1 and Wolfram syndrome 2.

    Science.gov (United States)

    Rigoli, Luciana; Di Bella, Chiara

    2012-08-01

    Wolfram syndrome 1 (WS1) is an autosomal recessive disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DI DM OA D syndrome) associated with other variable clinical manifestations. The causative gene for WS1 (WFS1) encoding wolframin maps to chromosome 4p16.1. Wolframin has an important function in maintaining the homeostasis of the endoplasmic reticulum (ER) in pancreatic β cells. Recently, another causative gene, CISD2, has been identified in patients with a type of Wolfram syndrome (WS2) resulting in early optic atrophy, diabetes mellitus, deafness, decreased lifespan, but not diabetes insipidus. The CISD2-encoded protein ERIS (endoplasmic reticulum intermembrane small protein) also localizes to ER, but does not interact directly with wolframin. ERIS maps to chromosome 4q22. Numerous studies have shown an interesting similarity between WFS1 and CISD2 genes. Experimental studies demonstrated that the Cisd2 knockout (Cisd2) mouse shows premature aging and typical symptoms of Wolfram syndrome. These researches provide interesting insight into the relation of neurodegenerative diseases, mitochondrial disorders, and autophagy and are useful for the pathophysiological understanding of both Wolfram syndrome and mitochondrial-mediated premature aging. The knowledge of WS1 and WS2 pathogenesis, and of the interactions between WFS1 and CISD2 genes, is useful for accurate diagnostic classification and for diagnosis of presymptomatic individuals.

  5. Middle East Respiratory Syndrome

    Centers for Disease Control (CDC) Podcasts

    2014-07-07

    This podcast discusses Middle East Respiratory Syndrome, or MERS, a viral respiratory illness caused by Middle East Respiratory Syndrome Coronavirus—MERS-CoV.  Created: 7/7/2014 by National Center for Immunization and Respiratory Diseases (NCIRD).   Date Released: 7/7/2014.

  6. Cardiomyopathy in Vici syndrome

    African Journals Online (AJOL)

    Solaf M. Elsayed

    2018-01-12

    Jan 12, 2018 ... The syndrome was first described in 1988, in two brothers with ACC, bilateral cataracts, ... syndrome with brain anomalies, cardiomyopathy, and severe intellectual disability. Case Reports in Genetics 2011, Volume 2011. [6] Finocchi A, Angelino G, Cantarutti N, Corbari M, Bevivino E, Cascioli S, et al.

  7. Tropical Diabetic Hand Syndrome

    African Journals Online (AJOL)

    [2,3] Tropical diabetic hand syndrome is a terminology used to describe a specific acute symptom complex found in diabetic patients in the tropics.[1-4] The syndrome comprises can rapidly progress to synergistic gangrene (Meleney's gangrene), affecting the entire limb and extending to the superficial fascia that can result in ...

  8. Chronic fatigue syndrome

    African Journals Online (AJOL)

    Objective. To acknowledge the dinical syndrome chronic fatigue syndrome (CFS) and outline the diagnostic criteria and reasonable management. Outcomes. Attempt at containment of treatmentcost and improvement of the quality of care of patients with. CFS. Evidence. Delphi-type commentary from 20 expert clinicians and ...

  9. The Othello syndrome.

    Science.gov (United States)

    Famuyiwa, O O; Ekpo, M

    1983-02-01

    A case of the Othello syndrome is presented. In its classical form the syndrome is rare, but as with other allied paranoid states, its medicosocial implications are great. Rational management should include pharmacotherapy, conjoint family therapy after symptom remission, and long-term individual psychotherapy.

  10. Chronic fatigue syndrome

    African Journals Online (AJOL)

    Chronic fatigue syndrome. Committee for Science and Education, Medical. Association of South Africa. Objective. ... Synonyms. Major controversy surrounds the name of the syndrome. In medical circles the preferred term is chronic fatigue .... urine tests using dipsticks. The above investigations should only be pursued when.

  11. Adult onset Leigh syndrome

    Directory of Open Access Journals (Sweden)

    Pandit Lekha

    2007-01-01

    Full Text Available Leigh syndrome is a rare progressive mitochondrial disorder of oxidative metabolism. Though it has been reported in infancy and childhood, it is rarely described in adults. The authors describe a patient who had clinical and magnetic resonance imaging features diagnostic of Leigh syndrome, with supportive biochemical and muscle histochemistry evidence.

  12. Metabolic syndrome and menopause

    Directory of Open Access Journals (Sweden)

    Jouyandeh Zahra

    2013-01-01

    Full Text Available Abstract Background The metabolic syndrome is defined as an assemblage of risk factors for cardiovascular diseases, and menopause is associated with an increase in metabolic syndrome prevalence. The aim of this study was to assess the prevalence of metabolic syndrome and its components among postmenopausal women in Tehran, Iran. Methods In this cross-sectional study in menopause clinic in Tehran, 118 postmenopausal women were investigated. We used the adult treatment panel 3 (ATP3 criteria to classify subjects as having metabolic syndrome. Results Total prevalence of metabolic syndrome among our subjects was 30.1%. Waist circumference, HDL-cholesterol, fasting blood glucose, diastolic blood pressure ,Systolic blood pressure, and triglyceride were significantly higher among women with metabolic syndrome (P-value Conclusions Our study shows that postmenopausal status is associated with an increased risk of metabolic syndrome. Therefore, to prevent cardiovascular disease there is a need to evaluate metabolic syndrome and its components from the time of the menopause.

  13. Churg Strauss syndrome

    International Nuclear Information System (INIS)

    Lopez Rengifo, Diana Milena; Contreras Zuniga, Eduardo; Osio, Luis Fernando

    2007-01-01

    The Churg-Strauss syndrome, also called allergic granulomatosis and angiitis, is a multisystem disorder characterized by allergic rhinitis, asthma, and prominent peripheral blood eosinophilia. The most common organ involved is the lung, followed by the skin. The Churg-Strauss syndrome, however, can affect any organ system, including the cardiovascular, gastrointestinal, renal, and central nervous systems

  14. The stress ulcer syndrome

    NARCIS (Netherlands)

    H.A. van Essen

    1986-01-01

    textabstractThe stress ulcer syndrome is described in this thesis. This syndrome is seen in patients admitted to intensive care departments or being treated in field hospitals, in disaster areas, or battle fields. Acute mucosal lesions associated with burns (Curling's ulcers) and central nervous

  15. The scapulocostal syndrome

    African Journals Online (AJOL)

    1991-06-15

    Jun 15, 1991 ... The scapulocostal syndrome, a hitherto insufficiently under- stood condition, was clinically studied in 201 cases. The main findings were: (i) pain was the presenting symptom in all cases and was mainly cervicobrachial (90%); (ill the syndrome is a definable entity within the wide spectrum of fibromyalgia ...

  16. ACUTE COMPARTMENT SYNDROME

    African Journals Online (AJOL)

    muscle destruction, muscle fibrosis, contractures and permanent disability and at worst case scenario of amputation (3,4). As reported by Frink et al (3) on their study on acute compartment syndrome it can occur even when there is no fracture. Also general surgeons have reported acute compartment syndrome.

  17. Sheehan's Syndrome (Postpartum Hypopituitarism)

    Science.gov (United States)

    ... in developing countries. Treatment of Sheehan's syndrome involves lifelong hormone replacement therapy. Symptoms Signs and symptoms of Sheehan's syndrome typically appear slowly, after a period of months or even years. But sometimes problems appear right away, such as the inability to ...

  18. Acute heart failure syndrome

    African Journals Online (AJOL)

    Heart failure can be defined as a clinical syndrome in which a structural or functional cardiac abnormality impairs the capacity of the ventricle to fill or eject enough blood for the requirements of the body. Acute heart failure syndrome represents a complex, heterogeneous set of clinical conditions, all with the common.

  19. Ehlers-Danlos' syndrom

    DEFF Research Database (Denmark)

    Leganger, Julie; Søborg, Marie-Louise Kulas; Farholt, Stense

    2016-01-01

    Ehlers-Danlos syndrome Ehlers-Danlos syndrome (EDS) comprises a group of diseases characterized by connective tissue fragility. The clinical symptoms primarily involve the skin, joints, blood vessels and internal organs. Diagnosing EDS is complicated because of the clinical variability, imprecise...

  20. Korsakoff's syndrome is preventable

    NARCIS (Netherlands)

    Oudman, Erik; Wijnia, Jan W.

    2014-01-01

    Wernicke-Korsakoff syndrome (WKS) is a life-threatening neuropsychiatric disorder caused by thiamine (vitamin B1) deficiency. Wernicke-Korsakoff syndrome is associated with mammillary body edema and small vessel ischemia. Many patients who develop WKS have a history of serious alcoholism and

  1. Proteus syndrome in adulthood

    NARCIS (Netherlands)

    Muller, E; Lichtendahl, DHE; Hofer, SOP

    Proteus syndrome is a very rare congenital condition comprising malformations and overgrowth of multiple sorts of tissue. It was described for the first time in 1979 and was termed Proteus syndrome in 1983. The authors describe a 37-year-old patient who was diagnosed initially as having

  2. Managing Sjogren's Syndrome.

    Science.gov (United States)

    Grossman, Sheila; Tagliavini, Lynda B

    2015-10-01

    There are approximately 4 million Americans diagnosed with Sjogren's Syndrome. This article discusses the epidemiology, pathophysiology, diagnostics, and implications for home care clinicians who may encounter patients with this syndrome. Chronic pain is discussed as well as interventions to manage symptoms such fatigue, dry eyes mouth and skin.

  3. Dandy-Walker Syndrome

    Science.gov (United States)

    ... Organizations Publications Definition Dandy-Walker Syndrome is a congenital brain malformation involving the cerebellum (an area of the back ... and toes. × Definition Dandy-Walker Syndrome is a congenital brain malformation involving the cerebellum (an area of the back ...

  4. Meconium aspiration syndrome

    Directory of Open Access Journals (Sweden)

    I.O. Bushtyreva

    2010-06-01

    Full Text Available Pathophysiological aspects of formation and development of meconium aspiration syndrome, as well as peculiaritues of its development based on data from native and foreign literature are studied. Special emphasis is pointed out to possible diagnostic techniques and prevention of syndrome

  5. Anton's syndrome and eugenics

    DEFF Research Database (Denmark)

    Kondziella, Daniel; Frahm-Falkenberg, Siska

    2011-01-01

    Anton's syndrome is arguably the most striking form of anosognosia. Patients with this syndrome behave as if they can see despite their obvious blindness. Although best known for his description of asomatognosia and visual anosognosia, Gabriel Anton (1858-1933) made other significant contributions...

  6. Redefining syndromic surveillance

    Directory of Open Access Journals (Sweden)

    Rebecca Katz

    2011-12-01

    Full Text Available With growing concerns about international spread of disease and expanding use of early disease detection surveillance methods, the field of syndromic surveillance has received increased attention over the last decade. The purpose of this article is to clarify the various meanings that have been assigned to the term syndromic surveillance and to propose a refined categorization of the characteristics of these systems. Existing literature and conference proceedings were examined on syndromic surveillance from 1998 to 2010, focusing on low- and middle-income settings. Based on the 36 unique definitions of syndromic surveillance found in the literature, five commonly accepted principles of syndromic surveillance systems were identified, as well as two fundamental categories: specific and non-specific disease detection. Ultimately, the proposed categorization of syndromic surveillance distinguishes between systems that focus on detecting defined syndromes or outcomes of interest and those that aim to uncover non-specific trends that suggest an outbreak may be occurring. By providing an accurate and comprehensive picture of this field’s capabilities, and differentiating among system types, a unified understanding of the syndromic surveillance field can be developed, encouraging the adoption, investment in, and implementation of these systems in settings that need bolstered surveillance capacity, particularly low- and middle-income countries.

  7. Ramsay Hunt syndrome

    Science.gov (United States)

    ... SP. Management of Bell's palsy and Ramsay Hunt syndrome. In: Brackmann DE, Shelton C, Arriaga MA, eds. Otologic Surgery . 4th ed. Philadelphia, PA: Elsevier; 2016:chap 27. Habif TP. Warts, ... Ramsay Hunt syndrome. In: Waldman SD, ed. Atlas of Uncommon Pain ...

  8. Colitis of Behcet's syndrome

    International Nuclear Information System (INIS)

    O'Connell, D.J.; Courtney, J.V.; Riddell, R.H.

    1980-01-01

    Three patients with Behcet's syndrome and colitis are described. The radiologic and histologic appearances of the colitis are discussed. The similarities of Behcet's colitis to Crohn's disease are outlined. The cases demonstrate the necessity to consider Behcet's syndrome in the differential diagnosis of inflammatory bowel disease. (orig.) [de

  9. Rothmund - Thomson Syndrome

    Directory of Open Access Journals (Sweden)

    Sharma N. L

    2003-01-01

    Full Text Available Rothmund-Thomson syndrome is a rare geno-photodermatosis of children. Poikilodermatous cutaneous changes, growth retardation, juvenile cataract and high incidence of malignancy are its classical features. A Thomson type of Rothmund-Thomson syndrome with characteristic poikiloderma congenitale, growth retardation, absence of juvenile cataract and parental non-consanguinity is described in an 8 year old Indian girl.

  10. Eosinophilic fasciitis (Shulman syndrome).

    Science.gov (United States)

    Carneiro, Sueli; Brotas, Arles; Lamy, Fabrício; Lisboa, Flávia; Lago, Eduardo; Azulay, David; Cuzzi, Tulia; Ramos-e-Silva, Marcia

    2005-04-01

    We present a case of eosinophilic fasciitis, or Shulman syndrome, in a 35-year-old man and discuss its clinical and histopathologic aspects, as well as its relationship to scleroderma. Although controversial, the tendency is to set Shulman syndrome apart from all other sclerodermiform states.

  11. Central Cord Syndrome

    Science.gov (United States)

    ... finding better ways to prevent, treat, and ultimately cure neurological disorders such as central cord syndrome. Information from the National Library of Medicine’s MedlinePlus Spinal ... cord syndrome is the most common form of incomplete spinal cord injury characterized by impairment in the arms and hands and to a lesser extent in the legs. ...

  12. Usher syndrome in Denmark

    DEFF Research Database (Denmark)

    Shzeena, Dad; Rendtorff, Nanna Dahl; Tranebjærg, Lisbeth

    2016-01-01

    BACKGROUND: Usher syndrome (USH) is a genetically heterogeneous deafness-blindness syndrome, divided into three clinical subtypes: USH1, USH2 and USH3. METHODS: Mutations in 21 out of 26 investigated Danish unrelated individuals with USH were identified, using a combination of molecular diagnostic...

  13. [Chronic glomerulonephritis syndrome (CGNS)].

    Science.gov (United States)

    Hayama, Naoaki

    2003-08-01

    Chronic glomerulonephritis syndrome is one of clinical classification in primary glomerulonephritis. Clinical classification of primary glomerulonephritis consists of five groups. (WHO 1995) They are acute nephritic syndrome, rapidly progressive nephritic syndrome, recurrent or persistent hematuria (proteinuria), chronic nephritic syndrome, and nephrotic syndrome. After therapy or renal biopsy, they have interaction with one another and many cases are followed up as chronic glomerulonephritis. In the long term clinical course, it is most important thing that not to deteriorate renal function by therapies. (blood pressure control, low protein diet, salt restriction) If there are not only glomerular change but also interstitial and vessel changes in renal biopsy the prediction of prognosis will be poor so it will be necessary to administer medication under strict observation.

  14. Eisenmenger Syndrome in Pregnancy

    Directory of Open Access Journals (Sweden)

    Shi-Min Yuan

    Full Text Available Abstract Eisenmenger syndrome is very rare in pregnant women. Debates remain concerning the management of Eisenmenger syndrome in this patient population and the prognosis is unclear in terms of maternal and fetoneonatal outcomes. Epidural analgesia is preferred for Cesarean section as it alleviates perioperative pain and reduces the pulmonary and systemic vascular resistances. Maternal mortality in the presence of Eisenmenger syndrome is reported as 30-50% and even up to 65% in those with Cesarean section. The major causes of death could be hypovolemia, thromboembolism and preeclampsia. Pregnancy should ideally be avoided in a woman with Eisenmenger syndrome concerning the high maternal mortality rate and probable poor prognosis of the baby. A short labour and an atraumatic delivery under epidural block are preferred in the women with a strong desire of pregnancy. The purpose of this article is to discuss the debates of Eisenmenger syndrome in pregnancy and the possible resolutions.

  15. Apert syndrome (acrocephalosyndactyly

    Directory of Open Access Journals (Sweden)

    Milovanović J.

    2014-01-01

    Full Text Available Apert syndrome is named for the French physician, Eugen Apert who was, in 1906. described anomalous shape of the skull with coronary suture synostosis and hypoplasia sphenoethmoidmaxillary part of the face and fingers syndactyly of hands and feet. Apert syndrome accounts for about 4,5% of all craniosynostosis. With the prevalence of 1:160 000-200 000, inherited in an autosomal domi­nant, and in 25% of cases are fresh mutations in the gene. This syndrome has no predilection by gender and race, varies in severity form in witch it is manifested. Anomality of internal organs are very rare, but half of the patients with this syndrome have mental retardation. Apert syndrome has no cure, but surgery can help to correct some of the problems.

  16. Clinical and Demographic Features of Pseudotumor Cerebri Syndrome Diagnosed in a University Hospital

    Directory of Open Access Journals (Sweden)

    Demet Arslan

    2017-06-01

    Full Text Available Objective: Pseudotumor cerebri syndrome (PTCS is characterized by symptoms and signs of increased intracranial pressure without ventriculomegaly, intracranial tumor or mass. This study aimed to explore and analyze 34 patients with PTCS according to age, sex, symptoms of the disorder, cranial magnetic resonance images findings, etiology, and treatment. Materials and Methods: A total of 34 patients who were diagnosed as having PTCS and followed up between January 2011 and August 2016 by Dicle University Medical School Neurology Department were included in this study. PTCS was diagnosed in accordance with the modified Dandy criteria. Results: Thirty-four patients were identified as having PTCS. Twenty-one (91.2% had headache, 19 (55.9% had blurred vision, 6 (17.6% had diplopia, 2 (5.9% had vertigo, 1 (2.9% had tinnitus, and 1 (2.9% had numbness of the face. Twenty-seven patients were diagnosed as having idiopathic intracranial hypertension, 21 (61.8% had no etiologic factors. Six (17.6% patients were obese, one of whom had recently gained weight and another had polycystic ovary syndrome. Seven patients were thought to have secondary PTCS with the following etiologic factors: 2 (5.9% patients had Hashimoto’s thyroiditis, 1 (2.9% had a history of all-trans retinoic acid intake due to a malignancy, 1 (2.9% had choroid plexus granuloma, 2 (5.9% had sinus venous thrombosis, and 1 (2.9% had Familial Meditteranian Fever. Conclusion: Although PTCS was described many years ago, its physiopathology and exact treatment procedures are not clearly understood. The most important target of its treatment is to prevent loss of vision and improve symptoms. With a better understanding of its pathophysiology, effective treatment protocols will be developed

  17. Characteristics and acute rehabilitation of Guillain-Barré syndrome in Singapore.

    Science.gov (United States)

    Ng, Y S; Lo, Y L; Lim, P A C

    2004-05-01

    The objectives of this study are to describe the demographics, clinical characteristics, complications and functional outcomes in patients with Guillain-Barr é syndrome (GBS) or the Miller-Fisher syndrome (MFS) variant admitted to our institution. We also aim to identify prognostic outcome indicators. A retrospective review of the case records of all patients discharged from our hospital with a diagnosis of GBS or MFS over a 2- year period was performed. The clinical characteristics charted included the time of symptom onset to nadir. The Modified Barthel Index (MBI) and Expanded Grading Scale (EGS) for GBS were the functional outcome measures used. Thirty-one cases were reviewed and 8 (25.8 %) had the MFS variant. Twenty-two (71 %) patients were male, with a mean age of 42.3 years. Weakness and numbness (74 %) were the most common initial symptoms; 9 (29 %) patients were paraparetic and 7 (22.6 %) were tetraparetic. Ten (32.3 %) patients had respiratory involvement and 8 (25.8 %) had urinary retention. Intravenous immunoglobulin (IVIG) was prescribed in 13 (41.9 %) patients. The mean duration to disease nadir was 8.1 days. The mean MBI scores at nadir and discharge were 54.7 and 77.3, respectively, and this gain was highly significant (P <0.01). The majority (84 %) of patients were employed at admission and although most returned to work, 63 % (17/27) of the patients had residual symptoms or signs 3 months after discharge. The clinical characteristics and complication frequency closely follows that previously described in Western populations, although our cohort was younger and had a higher proportion of the MFS variant. Predictors of a poorer functional outcome include a high EGS score at nadir, tetraparesis, respiratory involvement, urinary retention and the need for nasogastric enteral feeding. Patients who had MFS or received IVIG had greater functional gains. Good functional outcomes occurred in a large majority of patients.

  18. Hereditary intestinal polyposis syndromes.

    Science.gov (United States)

    Dean, P A

    1996-01-01

    Colorectal cancer is one of the most common cancers in the world, with overall mortality exceeding 40% even with treatment. Effective efforts for screening and prevention are most likely to succeed in patient groups identified as high risk for colorectal cancer, most notably the hereditary intestinal polyposis syndromes. In these syndromes, benign polyps develop throughout the intestinal tract prior to the development of colorectal cancer, marking the patient and associated family for precancer diagnosis followed by either close surveillance or preventive treatment. This review article was undertaken to discuss the most recent developments in the knowledge of hereditary intestinal polyposis syndromes, emphasizing the clinical approach to diagnosis and treatment relative to preventing the development of cancer. The most common of the hereditary polyposis syndromes is familial adenomatous polyposis (FAP), which is characterized by the development of hundreds to thousands of adenomatous polyps in the colon followed at an early age by colorectal cancer. Colorectal cancer can be prevented in this autosomal dominant condition by prophylactic colectomy, though a risk for other tumors, including periampullary cancers, remains throughout life. Variant of FAP associated with fewer and smaller polyps (hereditary flat adenoma syndrome), or even CNS tumors (Turcot's syndrome) also carry this high risk of colorectal cancer. Hereditary hamartomatous polyposis syndromes such as juvenile polyposis and Peutz-Jeghers syndrome (also autosomal dominant) are characterized by less frequent polyps. Though these are generally benign polyps, they are also associated with a significant risk of colorectal and other cancers. Other polyposis syndromes, including neurofibromatosis and Cowden's disease, do not carry this increased risk of colorectal cancer, and therefore affect different treatment strategies. Analysis of genetic factors responsible for these and other hereditary syndromes with

  19. Down syndrome, RASopathies, and other rare syndromes.

    Science.gov (United States)

    Kratz, Christian P; Izraeli, Shai

    2017-04-01

    In this article we discuss the occurrence of myeloid neoplasms in patients with a range of syndromes that are due to germline defects of the RAS signaling pathway and in patients with trisomy 21. Both RAS mutations and trisomy 21 are common somatic events contributing to leukemogenis. Thus, the increased leukemia risk observed in children affected by these conditions is biologically highly plausible. Children with myeloid neoplasms in the context of these syndromes require different treatments than children with sporadic myeloid neoplasms and provide an opportunity to study the role of trisomy 21 and RAS signaling during leukemogenesis and development. Copyright © 2017 Elsevier Inc. All rights reserved.

  20. [In vivoconfocal microscopic observation of corneal changes in patients with chronic Stevens-Johnson syndrome or toxic epidermal necrolysis].

    Science.gov (United States)

    Gao, T T; Li, Y; Liu, J; Long, Q

    2017-03-11

    Objective: To describe corneal alterations visible on in vivo confocal microscopy in patients with debilitating ocular sequelae caused by Stevens-Johnson syndrome (SJS) or toxic epidermal necrolysis (TEN). Methods: Twenty-two eyes of 11 consecutive patients suffering from chronic SJS or TEN were studied using slit lamp and in vivo confocal microscopy in the Ophthalmology Outpatient Department of Peking Union Medical College Hospital from March 2014 to April 2015. Results: Dry eye with meibomian gland dysfunction (19 eyes of 10 patients, 86.4%) was the most frequent clinical sequelae. Two patients (3 eyes, 13.6%) had severe vison loss with corneal neovascularization and conjunctivization. One patient had asymmetric binocular disease. Corneal epithelial cells were observed at an active state in 10 patients (19 eyes, 86.4%) and corneal stromal cells at an active state in all patients (22 eyes, 100%). Twenty eyes (10 patients, 91%) were noted with abnormal nerve layout and 10 eyes (5 patients, 45.5%) with dendritic cell infiltration around pathological nerve damages. Numerous inflammory cells were observed in 6 eyes (3 patients, 27.3%). Conclusions: The corneas of patients with chronic ocular sequelae associated with SJS or TEN present a number of abnormalities. In vivo confocal microscopy is a potetial useful tool for therapeutic indications and for follow-up of the debilitating chronic ocular problems linked to SJS and TEN. (Chin J Ophthalmol, 2017, 53:177-181) .

  1. Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE).

    Science.gov (United States)

    Bi, Weimin; Glass, Ian A; Muzny, Donna M; Gibbs, Richard A; Eng, Christine M; Yang, Yaping; Sun, Angela

    2016-08-01

    Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE) is an ultra rare neurodevelopmental disorder characterized by severe, infantile-onset intractable epilepsy, neurocognitive delay, macrocephaly, and craniofacial dysmorphism. The molecular diagnosis of this condition has thus far only been made in 16 Old Order Mennonite patients carrying a homozygous 7 kb founder deletion of exons 9-13 of STRADA. We performed clinical whole exome sequencing (WES) on a 4-year-old Indian male with global developmental delay, history of failure to thrive, infantile spasms, repetitive behaviors, hypotonia, low muscle mass, marked joint laxity, and dysmorphic facial features including tall forehead, long face, arched eyebrows, small chin, wide mouth, and tented upper lip. A homozygous single nucleotide duplication, c.842dupA (p.D281fs), in exon 10 of STRADA was identified. Sanger sequencing confirmed the mutation in the individual and identified both parents as carriers. In light of the molecular discoveries, the patient's clinical phenotype was considered to be a good fit for PMSE. We identified for the first time a homozygous point mutation in STRADA causing PMSE. Additional bi-allelic mutations related to PMSE thus far have not been observed in Baylor ∼6,000 consecutive clinical WES cases, supporting the rarity of this disorder. Our findings may have treatment implications for the patient since previous studies have shown rapamycin as a potential therapeutic agent for the seizures and cognitive problems in PMSE patients. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  2. Severe pain as a possible cause of dropped head syndrome that was attenuated after amputation of an ischemic lower limb.

    Science.gov (United States)

    Maki, Satoshi; Koda, Masao; Furuya, Takeo; Takahashi, Kazuhisa; Yamazaki, Masashi

    2016-03-02

    Dropped head syndrome (DHS) is defined as weakness of the neck extensor muscles causing a correctable chin-on-the-chest deformity. Here we report the case of a patient with severe pain from lower leg ischemia showing DHS whose symptoms were attenuated by pain relief after amputation of the severely ischemic lower leg. To our knowledge this is the first report indicating that severe pain can cause DHS. A 64-year-old Asian woman was referred to our department with a 1-month history of DHS. She also suffered from severe right foot pain because of limb ischemia. She began to complain of DHS as her gangrenous foot pain worsened. She had neck pain and difficulty with forward gaze. We found no clinical or laboratory findings of neuromuscular disorder or isolated neck extensor myopathy. We amputated her leg below the knee because of progressive foot gangrene. Her severe foot pain resolved after the surgery and her DHS was attenuated. Severe pain can cause DHS. If a patient with DHS has severe pain in another part of the body, we recommend considering aggressive pain relief as a treatment option.

  3. Coexistence of Reverse Capgras Syndrome, Subjective Double and Cotard Syndrome

    Directory of Open Access Journals (Sweden)

    Azadeh Mashayekhi

    2016-01-01

    Full Text Available Misidentification syndrome is a condition in which the person thinks that familiar persons have been replaced with other one. Coexistence of some types of this syndrome has been reported with other psychiatric syndromes. In this report, we present a 47-year-old married man with coexistence of reverse Capgras and subjective double syndromes with Cotard syndrome. There is no previous report of coexistence of these three forms of delusions in a single case.

  4. Posterior reversible encephalopathy syndrome presenting as Balint syndrome.

    Science.gov (United States)

    Kumar, Sunil; Abhayambika, Archana; Sundaram, Arun N E; Sharpe, James A

    2011-09-01

    Balint syndrome is a disorder of inaccurate visually guided saccades, optic ataxia, and simultanagnosia that typically results from bilateral parieto-occipital lesions. Visual perception disturbances in the posterior reversible encephalopathy syndrome (PRES) include hemianopia, visual neglect, and cerebral blindness, but Balint syndrome had not been recognized. We report Balint syndrome associated with PRES in a 37-year-old woman with acute hypertension and systemic lupus erythematosus. Balint syndrome can be an initial presentation of PRES.

  5. Toxic Shock Syndrome (For Parents)

    Science.gov (United States)

    ... Safe Videos for Educators Search English Español Toxic Shock Syndrome KidsHealth / For Parents / Toxic Shock Syndrome What's ... en español Síndrome de shock tóxico About Toxic Shock Syndrome Toxic shock syndrome (TSS) is a serious ...

  6. Sjögren syndrome

    Science.gov (United States)

    Xerostomia - Sjögren syndrome; Keratoconjunctivitis sicca - Sjögren; Sicca syndrome ... The cause of Sjögren syndrome is unknown. It is an autoimmune disorder. This means the body attacks healthy tissue by mistake. The syndrome occurs most ...

  7. [PATHOPHYSIOLOGY OF THE CARDIORENAL SYNDROME].

    Science.gov (United States)

    Balint, I; Vučak, J; Bašić-Marković, N; Klarić, D; Šakić, V Amerl

    2016-12-01

    Cardiorenal syndrome, a complex pathophysiological disorder of both the heart and kidneys, is a condition in which acute or chronic damage to one organ can lead to acute or chronic dysfunction of the other organ. Depending on primary organ dysfunction and disease duration, there are five different types of cardiorenal syndrome. Type 1 cardiorenal syndrome (acute cardiorenal syndrome) is defined as acute kidney injury caused by sudden decrease in heart function. Type 2 cardiorenal syndrome (chronic cardiorenal syndrome) refers to chronic kidney disease linked to chronic heart failure. Type 3 cardiorenal syndrome (acute renocardial syndrome) is caused by acute kidney injury that leads to heart failure. Type 4 cardiorenal syndrome (chronic renocardial syndrome) includes chronic heart failure due to chronic kidney disease. Type 5 cardiorenal syndrome (secondary cardiorenal syndrome) is reversible or irreversible condition marked by simultaneous heart and kidney insufficiency, as a result of multiorgan disease such as sepsis, diabetes mellitus, sarcoidosis, amyloidosis, etc. The pathophysiological patterns of cardiorenal syndrome are extremely complicated. Despite numerous publications, perplexed physiological, biochemical and hormonal disturbances as parts of the main pathogenic mechanisms of cardiorenal syndrome remain obscure. Even though there are guidelines for the treatment of patients with heart failure and chronic kidney disease, similar guidelines for the treatment of cardiorenal syndrome are lacking. In everyday practice, it is crucial to diagnose cardiorenal syndrome and use all diagnostic and therapeutic procedures available to prevent or alleviate kidney and heart failure.

  8. [Cramp-fasciculation syndrome].

    Science.gov (United States)

    Lagueny, A

    2005-12-01

    The cramp-fasciculation syndrome is a rare clinical entity in comparison with the frequency of cramps and isolated fasciculations in the general population. It is recognized as a benign syndrome without weakness and atrophy, however a few reports suggest that it may precede the occurrence of a motor neuron disease. Most often, the cramp-fasciculation syndrome is idiopathic and may be a component of a hyperexcitable peripheral nerve syndrome including other activities such as myokymia and neuromyotonia where antibodies to voltage-gated potassium channels (VGKCs) appear to be one of the effector mechanisms. The most complete form of this hyperexcitable peripheral nerve syndrome is Isaacs' syndrome. The central nervous system is also concerned with anti-VGKC antibodies found in Morvan's disease and limbic encephalitis which is often a paraneoplastic condition. These findings extend the spectrum of the anti-VGKC syndrome that may be associated with other auto-immune diseases, chiefly myasthenia gravis with thymoma. Carbamazepine and phenytoin cause reduction of the clinical and electrophysiological signs of the nerve hyperexcitability, and plasmapheresis and (or) immunosuppressors are useful when an auto-immune origin is considered.

  9. The Marfan syndrome genetics

    Directory of Open Access Journals (Sweden)

    Galina Pungerčič

    2005-05-01

    Full Text Available Background: The Marfan syndrome is an autosomal dominant heritable disorder of connective tissue. It is caused by mutations in the fibrillin-1 gene encoding glycoprotein fibrillin-1, a component of microfibrils of extracellular matrix. Patients with Marfan syndrome show wide spectra of clinical signs, primarily on skeletal, cardiovascular and ocular organ systems. Cardiovascular complications (especially aortic aneurysm and aortic dissection are the most common cause of mortality of Marfan syndrome patients. Discovering genotype-phenotype correlations is complicated because of the large number of mutations reported as well as clinical heterogeneity among individuals with the same mutation. Despite the progress in the knowledge of the molecular nature of Marfan syndrome the diagnosis is still based mainly on the clinical features in the different body systems.Conclusions: Early identification of patient with Marfan syndrome is of considerable importance because of appropriate treatment that can greatly improve life expectancy. Unfortunately, despite the improvement of diagnostic methods, medical and surgical therapy, the mortality due to undiagnosed Marfan syndrome is still high. The present article reviews the molecular genetic studies of Marfan syndrome since the discovery of the mutations in the fibrillin-1 gene.

  10. Isolated central vestibular syndrome.

    Science.gov (United States)

    Kim, Sung-Hee; Park, Seong-Ho; Kim, Hyo-Jung; Kim, Ji-Soo

    2015-04-01

    Isolated vestibular syndrome may occur all along the vestibular pathways from the peripheral labyrinth to the brain. By virtue of recent developments in clinical neurotology and neuroimaging, however, diagnosis of isolated central vestibulopathy is increasing. Here, we review five distinct syndromes of isolated central vestibular syndrome from lesions restricted to the vestibular nuclei, the nucleus prepositus hypoglossi, the flocculus, the tonsil, and the nodulus, and introduce a new vestibular syndrome from isolated involvement of the inferior cerebellar peduncle. Decreased responses to head impulses do not exclude a central lesion as a cause of isolated vestibular syndrome. Brain imaging, including diffusion-weighted magnetic resonance imaging (MRI), may be falsely negative during the acute phase in patients with isolated vestibular syndrome because of a stroke. Central signs should be sought carefully in patients with isolated vertigo, even when the patients show the features of peripheral vestibulopathy and negative MRIs. Recognition of these isolated central vestibular syndromes would aid in defining the lesions responsible for various vestibular manifestations in central vestibulopathy. © 2015 New York Academy of Sciences.

  11. Rare case of nephrotic syndrome: Schimke syndrome.

    Science.gov (United States)

    Pedrosa, Anna Kelly Krislane de Vasconcelos; Torres, Luiz Fernando Oliveira; Silva, Ana Corina Brainer Amorim da; Dantas, Adrianna Barros Leal; Zuntini, Káthia Liliane da Cunha Ribeiro; Aguiar, Lia Cordeiro Bastos

    2016-01-01

    Schimke syndrome corresponds to dysplasia of bone and immunity, associated with progressive renal disease secondary to nephrotic syndrome cortico-resistant, with possible other abnormalities such as hypothyroidism and blond marrow aplasia. It is a rare genetic disorder, with few reports in the literature. The most frequent renal involvement is nephrotic syndrome with focal segmental glomerulosclerosis and progressive renal failure. The objective of this study was to report a case of Schimke syndrome, diagnostic investigation and management of the case. Resumo A síndrome Schimke corresponde à displasia imuno-óssea, associada à doença renal progressiva secundária à síndrome nefrótica córtico-resistente, podendo haver outras anormalidades como hipotireoidismo e aplasia de medula óssea. Trata-se de uma patologia genética rara, com poucos relatos na literatura. O acometimento renal mais frequente é uma síndrome nefrótica por glomeruloesclerose segmentar e focal e falência renal progressiva. O objetivo deste estudo foi relatar um caso de síndrome de Schimke, investigação diagnóstica e condução do caso.

  12. Diagnosis and treatment of a patient with bilateral thoracic outlet syndrome secondary to anterior subluxation of bilateral sternoclavicular joints: a case report.

    Science.gov (United States)

    Nichols, Deidra; Seiger, Cindy

    2013-10-01

    Thoracic outlet syndrome may result from a posterior sternoclavicular (SC) joint subluxation, or an anterior SC joint subluxation after surgical fixation. This case report presents the physical therapy management of a patient with bilateral thoracic outlet syndrome (TOS) secondary to bilateral idiopathic anterior SC joint subluxation. A 16-year-old female presented with a 2-year history of numbness, tingling, and coldness in bilateral upper extremities, and intermittent headaches with occasional vision loss. Ipsilateral upper extremity symptoms were reproduced with cervical rotation and shoulder flexion and abduction from 90° to end of the range. All TOS tests were positive. Passive horizontal abduction, through the plane of scaption, produced anterior subluxation of the ipsilateral SC joint. Sustained posterior glides to the medial clavicle relieved all symptoms during shoulder flexion and the Adson's test. Interventions consisted of manual therapy, therapeutic exercise, and the trial of two orthoses. After 12 treatment sessions, the patient's symptoms resolved and she improved by 10 points on the Upper Extremity Functional Index. She had no reproduction of symptoms with the thoracic outlet special tests. She maintained a static hold for 90 sec at 90° shoulder flexion, 90° shoulder abduction, and full shoulder flexion without symptoms. The outcomes describe a successful intervention for a patient with bilateral TOS secondary to idiopathic bilateral anterior SC joint subluxation. This case suggests that SC joint dysfunction should be considered as a cause of TOS and should be screened during the initial examination.

  13. Pediatric Toxic Shock Syndrome

    Directory of Open Access Journals (Sweden)

    Jennifer Yee

    2017-09-01

    Full Text Available Audience: This scenario was developed to educate emergency medicine residents on the diagnosis and management of a pediatric patient with toxic shock syndrome. The case is also appropriate for teaching of medical students and advanced practice providers, as well as a review of the principles of crisis resource management, teamwork, and communication. Introduction: Toxic shock syndrome is a low-frequency, high-acuity scenario requiring timely identification and aggressive management. If patients suffering from this condition are managed incorrectly, they may progress into multi-organ dysfunction and potentially death. Toxic shock syndrome has been associated with Streptococcus and Staphylococcus aureus (Staph. Approximately half of Staph cases are associated with menstruation, which was first described in the 1970s-1980s and was associated with the use of absorbent tampons.1 Group A Streptococcus may cause complications such as necrotizing fasciitis and gangrenous myositis.2 Pediatric patients may present critically ill from toxic shock syndrome. Providers need to perform a thorough history and physical exam to discern the source of infection. Management requires aggressive care with antibiotics and IV fluids. Objectives: By the end of this simulation session, the learner will be able to: 1 Recognize toxic shock syndrome. 2 Review the importance of a thorough physical exam. 3 Discuss management of toxic shock syndrome, including supportive care and the difference in antibiotic choices for streptococcal and staphylococcal toxic shock syndrome. 4 Appropriately disposition a patient suffering from toxic shock syndrome. 5 Communicate effectively with team members and nursing staff during a resuscitation of a critically ill patient. Method: This session was conducted using high-fidelity simulation, followed by a debriefing session and lecture on toxic shock syndrome.

  14. Gardner′s Syndrome

    Directory of Open Access Journals (Sweden)

    Sapna Panjwani

    2011-01-01

    Full Text Available Gardner′s syndrome is an autosomal dominant disease and is a subtype of familial adenomatous polyposis. It is characterized by adenomatous intestinal polyps, multiple osteomas in the skull, maxillae, mandible, and multiple cutaneous and subcutaneous masses (epidermoids and desmoid. Intestinal polyps, if not treated, have 100% chance of becoming malignant. We report a case of a 25-year-old female patient with Gardner′s syndrome, with clinical manifestations including impacted supernumerary teeth, odontomes, sebaceous cyst on the scalp, and osteomas. It is important for the general dental practitioners to be aware of the clinical and radiological characteristics of Gardner′s syndrome.

  15. Iliopsoas Syndrome in Dancers.

    Science.gov (United States)

    Laible, Catherine; Swanson, David; Garofolo, Garret; Rose, Donald J

    2013-08-01

    Coxa saltans refers to a constellation of diagnoses that cause snapping of the hip and is a major cause of anterior hip pain in dancers. When the internal type is accompanied by weakness or pain, it is referred to as iliopsoas syndrome. Iliopsoas syndrome is the result of repetitive active hip flexion in abduction and can be confused with other hip pathology, most commonly of labral etiology. To report the incidence, clinical findings, treatment protocol, and results of treatment for iliopsoas syndrome in a population of dancers. Retrospective case series; Level of evidence, 4. A retrospective database review of 653 consecutive patients evaluated for musculoskeletal complaints over a 3-year period was completed. The diagnosis of iliopsoas syndrome was made based on anterior hip or groin pain, weakness with resisted hip flexion in abduction, or symptomatic clicking or snapping with a positive iliopsoas test. Patients identified with iliopsoas syndrome were further stratified according to age at time of onset, insidious versus acute onset, duration of symptoms, side of injury, presence of rest pain, pain with activities of daily living, and associated lower back pain. All patients diagnosed with iliopsoas syndrome underwent physical therapy, including hip flexor stretching and strengthening, pelvic mobilization, and modification of dance technique or exposure as required. A total of 49 dancers were diagnosed and treated for iliopsoas syndrome. Within this injured population of 653 patients, the incidence in female dancers was 9.2%, significantly higher than that in male dancers (3.2%). The mean age at the time of injury was 24.6 years. The incidence of iliopsoas syndrome in dancers younger than 18 years was 12.8%, compared with 7% in dancers older than 18 years. Student dancers had the highest incidence (14%), followed by amateur dancers (7.5%), while professional dancers had the lowest incidence (4.6%). All patients responded to conservative treatment, and no

  16. Bouveret's Syndrome: diagnostic considerations

    International Nuclear Information System (INIS)

    Cooper, S.G.; Sherman, S.B.; Steinhardt, J.E.; Wilson, J.M. Jr.; Richman, A.H.

    1987-01-01

    Bouveret's syndrome is a rare disease entity manifested by the formation of a cholecystoduodenal or choledochoduodenal fistula with passage of a gallstone into the duodenal bulb and subsequent obstruction of the gastric outlet. To date, no report of this entity using computed tomographic (CT) imaging is available. This article presents a case of Bouveret's syndrome with the classic findings on upper gastrointestinal (GI) tract series and a description of the CT manifestations. The literature is reviewed with discussion of the diagnostic approach to patients with Bouveret's syndrome

  17. Recurrent Miller Fisher syndrome.

    Science.gov (United States)

    Madhavan, S; Geetha; Bhargavan, P V

    2004-07-01

    Miller Fisher syndrome (MFS) is a variant of Guillan Barre syndrome characterized by the triad of ophthalmoplegia, ataxia and areflexia. Recurrences are exceptional with Miller Fisher syndrome. We are reporting a case with two episodes of MFS within two years. Initially he presented with partial ophthalmoplegia, ataxia. Second episode was characterized by full-blown presentation characterized by ataxia, areflexia and ophthalmoplegia. CSF analysis was typical during both episodes. Nerve conduction velocity study was fairly within normal limits. MRI of brain was within normal limits. He responded to symptomatic measures initially, then to steroids in the second episode. We are reporting the case due to its rarity.

  18. Dostoevsky and Stendhal's syndrome.

    Science.gov (United States)

    Amâncio, Edson José

    2005-12-01

    Stendhal's syndrome occurs among travelers when they encounter a work of art of great beauty. It is characterized by an altered perception of reality, emotional disturbances, and crises of panic and anxiety with somatization. The patient profile described originally for this syndrome was of particularly sensitive individuals who were admirers of works or art: artists, poets, writers and art students, among others. The Russian writer Fyodor Mikhailovich Dostoevsky suffered from epilepsy and there is evidence that he presented the symptoms of Stendahl's syndrome while contemplating some works of art, particularly when viewing Hans Holbein's masterpiece, Dead Christ, during a visit to the museum in Basle.

  19. Capgras syndrome in adolescence.

    Science.gov (United States)

    Jackson, R S; Naylor, M W; Shain, B N; King, C A

    1992-09-01

    Capgras syndrome, the delusion of substitution, has rarely been reported in adolescents. The etiology is unknown, and intense controversy surrounds the debate over the relative importance of biological versus psychological factors. Presented here are two cases of Capgras syndrome in adolescents and a review of the relevant biological, neuropsychological, and psychodynamic literature. The authors suggest that the psychological processes underlying the Capgras delusion are mediated by neuroanatomical connections between various brain areas and hypothesize that the fundamental lesion in Capgras syndrome may be the patient's inability or failure to acknowledge the authenticity of a person they clearly recognize.

  20. Cantu syndrome and lymphoedema.

    Science.gov (United States)

    García-Cruz, Diana; Mampel, Alejandra; Echeverria, Maria I; Vargas, Ana L; Castañeda-Cisneros, Gema; Davalos-Rodriguez, Nory; Patiño-Garcia, Brenda; Garcia-Cruz, Maria O; Castañeda, Victor; Cardona, Ernesto G; Marin-Solis, Bertha; Cantu, Jose M; Nuñez-Reveles, Nelly; Moran-Moguel, Cristina; Thavanati, Pavarthi K R; Ramirez-Garcia, Sergio; Sanchez-Corona, Jose

    2011-01-01

    Three female patients with Cantu syndrome were studied, two of whom were adults presenting with the complication of lymphoedema, as described earlier in a male patient with this syndrome. The aim of this study is to report the clinical characteristics of these three new cases and to emphasize that lymphoedema, as observed in two of the patients described here, has been observed in 11.5% of patients with Cantu syndrome and that heterochromia iridis, observed in one patient, is probably a new feature of this condition.