Therapeutic Options in Idiopathic Burning Mouth Syndrome: Literature Review

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Miziara, Ivan; Chagury, Azis; Vargas, Camila; Freitas, Ludmila; Mahmoud, Ali

2014-01-01

Introduction Burning mouth syndrome (BMS) is characterized by a burning sensation in the tongue, palate, lips, or gums of no well-defined etiology. The diagnosis and treatment for primary BMS are controversial. No specific laboratory tests or diagnostic criteria are well established, and the diagnosis is made by excluding all other possible disorders.Objective To review the literature on the main treatment options in idiopathic BMS and compare the best results of the main studies in 15 years....

Anesthetic management of Shah-Waardenburg syndrome: Experience of two cases and review of literature

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Uday S Ambi

2012-01-01

Full Text Available Waardenburg syndrome (WS is a rare autosomally inherited and genetically heterogeneous disorder of neural crest cell development. Literature regarding the anesthetic management of these cases is limited. We present 2 cases of Shah-Waardenburg syndrome and discuss them in the context of review of previously published cases.

Coronary artery bypass surgery in a patient with Kartagener syndrome: a case report and literature review

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Bougioukas Ioannis

2010-08-01

Full Text Available Abstract Kartagener syndrome consists of congenital bronchiectasis, sinusitis, and total situs inversus in half of the patients. A patient diagnosed with Kartagener syndrome was reffered to our department due to 3-vessel coronary disease. An off-pump coronary artery bypass operation was performed using both internal thoracic arteries and a saphenous vein graft. We performed a literature review for cases with Kartagener syndrome, coronary surgery and dextrocardia. Although a few cases of dextrocardia were found in the literature, no case of Kartagener syndrome was mentioned.

Cushing's syndrome after intralesional triamcinolone acetonide: a systematic review of the literature and multinational survey.

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Fredman, Rafi; Tenenhaus, Mayer

2013-06-01

Intralesional triamcinolone acetonide (TAC) is a well-established treatment for keloids and hypertrophic scars. The present text provides a systematic review of all previously reported cases of Cushing's syndrome resulting from intralesional TAC in an effort to discover whether an association exists between dosage or frequency of injection and the subsequent development of Cushing's syndrome. Data collected from a multinational survey of plastic surgeons is presented and discussed to understand current trends in the use of TAC. Recommendations for early recognition of Cushing's syndrome, TAC dosages in children, and follow up guidelines are presented. A systematic review of the literature from 1950 to 2012 was performed to evaluate outcomes following intralesional TAC used for the treatment of scars. A confidential survey was sent to 4125 plastic surgeons, 102 responses from 9 countries were received. A total of 18 cases of Cushing's syndrome after intralesional TAC have been reported in the English world literature. Survey data reveals that at least 30% (25/84) of plastic surgeons exceed the recommended dosage of TAC and 47% (46/97) are not aware of Cushing's syndrome as a possible complication of intralesional TAC. Cushing's syndrome resulting from intralesional TAC has been reported multiple times in the literature. Published literature suggests that TAC administered within the most recent recommendations does not appear to place adult patients at increased risk for developing Cushing's syndrome. Children appear to be most at risk for developing Cushing's syndrome and yet insufficient recommendations currently exist with regard to their safe dosage. Intralesional dosage should not exceed 30 mg per month in children while noting that at least one reported case of Cushing's syndrome resulted from a smaller dose. Diligent follow up and patient education is advised for any patient treated with TAC so that complications can be recognized and addressed promptly

New onset epilepsy in Prader-Willi syndrome: semiology and literature review.

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Benson, Leslie A; Maski, Kiran P; Kothare, Sanjeev V; Bourgeois, Blaise F

2010-10-01

Prader-Willi syndrome is a chromosomal disorder caused by absence of expression of the paternal active genes in the 15q11∼q13 chromosome region; it is associated with an increased incidence of epilepsy and narcolepsy. Presented here is the case of a 2.5-year-old boy with Prader-Willi syndrome and a history of neonatal superior sagittal sinus thrombosis with new onset of atonic seizures with electrographic onset from the parasagittal region. It is postulated that microscarring from neonatal venous sinus thrombosis, history of febrile seizures, and Prader-Willi syndrome are factors predisposing him to epilepsy. The importance of video electroencephalography with electromyography electrodes is emphasized for Prader-Willi syndrome patients with drop episodes, to differentiate cataplexy from seizures. This being a novel report of a Prader-Willi syndrome patient with atonic seizures, the literature on seizure semiology among patients with Prader-Willi syndrome is reviewed. Copyright © 2010 Elsevier Inc. All rights reserved.

[Respiratory manifestations of yellow nail syndrome: report of two cases and literature review].

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Li, S; Huang, H; Xu, K; Xu, Z J

2018-03-12

Objective: To describe the clinical characteristics of respiratory manifestations of yellow nail syndrome. Methods: We conducted a retrospective analysis of 2 patients with respiratory diseases associated with yellow nail syndrome. Their clinical and chest radiological data were collected. We searched PubMed, Wanfang and CNKI databases with the keywords "yellow nail syndrome, yellow nail and lung" in Chinese and English. And the relevant literatures, including 6 articles in Chinese and 81 articles in English, were reviewed. Results: Our 2 patients were male, one 60 years old and the other 76. Typical yellow nails were present in their fingers, and one of them also showed toe yellow nails. One patient was admitted for refractory respiratory infection and he was diagnosed with diffuse bronchiectasis. The respiratory symptoms could be relieved with antibiotics according to the results of sputum microbiological analysis. The other patient was admitted for cough and exertional dyspnea, and refractory pleural effusions were revealed bilaterally. He received repeated effusion drainage by thoracentesis, and Octreotide was tried recently. A total of 373 cases were reviewed in Chinese and English literatures. Pleural effusions (152 cases) and diffuse bronchiectasis (121 cases) were the most common reported respiratory manifestations. Lymphoedema was present in almost all cases with pleural effusion associated with yellow nail syndrome, and the effusion was usually exudative and lymphocyte predominant. Pleurodesis and decortication were effective for them. But, somatostatin analogues had been tried effectively for these patients recently. On the other hand, literatures showed that diffuse bronchiectasis in yellow nail syndrome was less severe than idiopathic diffuse bronchiectasis, and might benefit from long-term macrolide antibiotics. Conclusions: Yellow nail syndrome is a very rare disorder. Besides yellow nail, respiratory manifestations are the main clinical

Mazabraud syndrome associated with McCune-Albright syndrome: a case report and review of the literature.

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Biazzo, Alessio; Di Bernardo, Andrea; Parafioriti, Antonina; Confalonieri, Norberto

2017-08-23

Mazabraud syndrome is a very rare benign disorder characterized by the association of monostotic or polyostotic fibrous dysplasia and one or multiple intramuscular myxomas. McCune -Albright syndrome is a rare benign disorder characterized by the association of polyostotic fibrous dysplasia, cafè-au-lait skin pigmentations and endocrine dysfunction, such as precocious puberty, diabetes mellitus, goiter and breast fibroadenomatosis. The association of Mazabraud syndrome and McCune-Albright in the same patient is an anecdotal event. We report the case of a 28-year-old girl with Mazabraud syndrome associated with McCune-Albright syndrome. Our literature review shows that in these patients there is a higher risk of malignant transformation of fibrous dysplasia into osteosarcoma, confirming previous reports. Conversely, no malignant transformation has been reported for myxomas in isolated Mazabraud syndrome or in the association with McCune-Albright syndrome. We conclude that these patients should be scheduled to a close and long-term follow-up.

Sturge Weber Syndrome: review of literature with case illustration

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Satyarthee Guru Dutta

2017-03-01

Full Text Available Sturge-Weber syndrome (SWS also called as encephalotrigeminal angiomatosis, is a sporadically occurring rare neuro-cutaneous syndrome, characterized by vascular malformation with capillary venous angiomas involving face, choroidal layer of eye globe and leptomeninges responsible for ophthamological as well as neurological signs and symptoms. Authors report an interesting case, a six year old girl, who presented with seizures, facial port wine stain and normal psychomotor development. CT scan showed left cerebral hemiatrophy, left frontal and parieto occipital calcification with cortical calcification in left high frontal convexity. Cranial MRI scan also confirmed finding of left cerebral hemiatrophy and also revealed presence of gyriform cortical calcification, prominent flow voids seen in left basal ganglia. Her seizure is well controlled with antiepileptic medication. The pertinent literature is reviewed and management of such cases is discussed briefly.

An Overlap Syndrome of Pigment Dispersion and Pigmentary Glaucoma accompanied by Marfan Syndrome: Case Report with Literature Review.

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Chakravarti, Tutul; Spaeth, George

2013-01-01

'Overlap syndrome' describes the situation in which two or more 'independent' conditions are present, either one of which could cause a particular finding. This current presentation reports a case with bilateral pigment dispersion syndrome (PDS), advanced pigmentary glaucoma (PG), and the Marfan syndrome, with bilateral subluxation of the lenses, and large short-term and long-term fluctuations of intraocular pressure. It is interesting to consider whether the associated advanced glaucomatous nerve damage could be a manifestation of just the PDS, just the Marfan syndrome, or rather a combination of these two overlapping independent conditions. How to cite this article: Chakravarti T, George S. An Overlap Syndrome of Pigment Dispersion and Pigmentary Glaucoma accompanied by Marfan Syndrome: Case Report with Literature Review. J Current Glau Prac 2013;7(2):91-95.

[Report of a case with Joubert syndrome and literature review].

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Yi, Ya-hui; Li, Gang; Lu, Zhong-lie; Zhou, Jian-sheng; Yao, Zhen-wei; Wang, Peng-fei; Yao, Jin-xiang

2011-12-01

To explore the clinical feature, imaging and their diagnostic value for Joubert syndrome (JS). The clinical data, imaging feature, and 31 references from China Biomedical literature database (CBMdise) were reviewed and analyzed. The age of onset of 32 patients including male 20 and female 12 ranged from 3 days to 6 years (mean 2.2 years). All the 32 patients with Joubert syndrome showed "slow growth" and "reduced muscle tension", 26 cases (81.3%) showed "gasp for breath", 26 cases (81.3%) showed "unusual motion of eyeball", 2 cases (6.3%) showed additional fingers (toes), 6 cases (18.8%) showed stretching tongue with agape. The typical imaging features of Joubert syndrome included "molar tooth sign", "midline cleavage" between cerebellar hemispheres and "bat-wing" like fourth ventricle, all the 32 patients with Joubert syndrome showed "midline cleavage", "molar tooth sign" was present in 29 cases (90.1%), and "bat-wing" like fourth ventricle in 30 cases (93.8%). Joubert syndrome is a rare congenital brain malformation. The typical clinical manifestations included "gasp for breath", "reduced tension of muscle", "slow growth" and "unusual motion of eyeball", and at the same time the patients had the following typical imaging features of brain: "molar tooth sign", "midline cleavage" and "bat-wing" like fourth ventricle.

Thrombotic manifestations in SAPHO syndrome. Review of the literature.

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Carranco-Medina, Tatiana Elizabeth; Hidalgo-Calleja, Cristina; Calero-Paniagua, Ismael; Sánchez-González, María Dolores; Quesada-Moreno, Alba; Usategui-Martín, Ricardo; Pérez-Garrido, Laura; Gómez-Castro, Susana; Montilla-Morales, Carlos Alberto; Martínez-González, Olga; Del Pino-Montes, Javier

2015-01-01

SAPHO (synovitis, acne, pustulosis, hyperostosis and osteitis) syndrome is a cluster of osteo-cutaneous manifestations that can lead to serious complications such as thrombosis of the subclavian vein or superior vena cava, mainly in patients with significant inflammatory involvement of the anterior-chest-wall. The objective of this study was to review the cases published in the medical literature related with the presence of thrombotic complications in patients diagnosed with SAPHO syndrome and to try to determine their possible pathogenic mechanism and risk factors. We analyzed 11 published reports of isolated clinical cases or case series, a total of 144 patients, which described a total of 15 cases of venous thrombosis. The clinical characteristics of these patients, evaluated to determine whether they meet the ASAS criteria for axial and peripheral spondyloarthritis, is analyzed the need for early diagnosis and treatment is highlighted. Copyright © 2014 Elsevier España, S.L.U. All rights reserved.

Generalized peeling skin syndrome: Case report and review of the literature.

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Kharfi, Monia; Khaled, Aida; Ammar, Donia; Ezzine, Nadia; El Fekih, Nadia; Fazaa, Becima; Jaafoura, Hiabib; Kamoun, Mohamed Ridha

2010-03-15

Peeling skin syndrome (PSS) is a rare form of ichthyosis with a probable autosomal recessive inheritance that exhibits superficial, painless, continual, or seasonal cutaneous exfoliation. The syndrome generally appears at birth or in infancy. We report a case of generalized PSS and provide a literature review. A 34-year-old woman reported a lifelong history of generalized and painless peeling of the skin that worsened in summer. Her parents were third degree cousins. Her twin sister and her two cousins presented with the same condition. Physical examination showed widespread superficial sheets of variable size that could be easily removed without bleeding or pain. No underlying erythema was noted. Otherwise, the patient was in good health. Histological findings showed an epidermal cleavage within the stratum corneum. The generalized form of PSS is classified into 3 types, A, B, and C, according to the classification system of Traupe and Mevorah. We have tried to classify the cases of generalized PSS already reported in the literature into one of these three types. Thirteen reported cases probably presented PSS-type A. Sixteen patients are best described as PSS-type B. Two patients exhibit PSS-type C. Fifteen reported patients had an acral form of peeling skin syndrome. The classification of the eleven remaining patients was difficult to determine. Our patient presented clinical and histological features of generalized PSS-type A.

Therapeutic Options in Idiopathic Burning Mouth Syndrome: Literature Review

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Miziara, Ivan; Chagury, Azis; Vargas, Camila; Freitas, Ludmila; Mahmoud, Ali

2014-01-01

Introduction Burning mouth syndrome (BMS) is characterized by a burning sensation in the tongue, palate, lips, or gums of no well-defined etiology. The diagnosis and treatment for primary BMS are controversial. No specific laboratory tests or diagnostic criteria are well established, and the diagnosis is made by excluding all other possible disorders. Objective To review the literature on the main treatment options in idiopathic BMS and compare the best results of the main studies in 15 years. Data Synthesis We conducted a literature review on PubMed/MEDLINE, SciELO, and Cochrane-BIREME of work in the past 15 years, and only selected studies comparing different therapeutic options in idiopathic BMS, with preference for randomized and double-blind controlled studies. Final Comments Topical clonazepam showed good short-term results for the relief of pain, although this was not presented as a definitive cure. Similarly, α-lipoic acid showed good results, but there are few randomized controlled studies that showed the long-term results and complete remission of symptoms. On the other hand, cognitive therapy is reported as a good and lasting therapeutic option with the advantage of not having side effects, and it can be combined with pharmacologic therapy. PMID:25992157

Therapeutic Options in Idiopathic Burning Mouth Syndrome: Literature Review

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Miziara, Ivan

2014-07-01

Full Text Available Introduction Burning mouth syndrome (BMS is characterized by a burning sensation in the tongue, palate, lips, or gums of no well-defined etiology. The diagnosis and treatment for primary BMS are controversial. No specific laboratory tests or diagnostic criteria are well established, and the diagnosis is made by excluding all other possible disorders. Objective To review the literature on the main treatment options in idiopathic BMS and compare the best results of the main studies in 15 years. Data Synthesis We conducted a literature review on PubMed/MEDLINE, SciELO, and Cochrane-BIREME of work in the past 15 years, and only selected studies comparing different therapeutic options in idiopathic BMS, with preference for randomized and double-blind controlled studies. Final Comments Topical clonazepam showed good short-term results for the relief of pain, although this was not presented as a definitive cure. Similarly, α-lipoic acid showed good results, but there are few randomized controlled studies that showed the long-term results and complete remission of symptoms. On the other hand, cognitive therapy is reported as a good and lasting therapeutic option with the advantage of not having side effects, and it can be combined with pharmacologic therapy.

Public Health Literature Review of Fragile X Syndrome.

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Raspa, Melissa; Wheeler, Anne C; Riley, Catharine

2017-06-01

The purpose of this systematic literature review is to describe what is known about fragile X syndrome (FXS) and to identify research gaps. The results can be used to help inform future public health research and provide pediatricians with up-to-date information about the implications of the condition for individuals and their families. An electronic literature search was conducted, guided by a variety of key words. The search focused on 4 areas of both clinical and public health importance: (1) the full mutation phenotype, (2) developmental trajectories across the life span, (3) available interventions and treatments, and (4) impact on the family. A total of 661 articles were examined and 203 were included in the review. The information is presented in the following categories: developmental profile (cognition, language, functional skills, and transition to adulthood), social-emotional profile (cooccurring psychiatric conditions and behavior problems), medical profile (physical features, seizures, sleep, health problems, and physiologic features), treatment and interventions (educational/behavioral, allied health services, and pharmacologic), and impact on the family (family environment and financial impact). Research gaps also are presented. The identification and treatment of FXS remains an important public health and clinical concern. The information presented in this article provides a more robust understanding of FXS and the impact of this complex condition for pediatricians. Despite a wealth of information about the condition, much work remains to fully support affected individuals and their families. Copyright © 2017 by the American Academy of Pediatrics.

Os peroneum friction syndrome complicated by sesamoid fatigue fracture: a new radiological diagnosis? Case report and literature review.

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Bashir, Waseem A; Lewis, Steve; Cullen, Nicholas; Connell, David A

2009-02-01

Injuries to the peroneal tendons are relatively common worldwide but tendon rupture without significant trauma is uncommon. Ankle mechanics can be seriously affected by disruption of one or both of the peroneal tendons although complete rupture can also remain asymptomatic. Accessory ossicles are sesamoid bones and are common findings in routine radiology of the foot and ankle. Although in the vast majority these "os" are normal variants of anatomy, they can lead to painful syndromes and suffer fractures and even undergo degenerative changes in response to overuse and trauma. Although similar syndromes have been discussed in the surgical literature, there is a lack of literature describing the use of modern imaging in the accurate diagnosis and its subsequent assistance towards appropriate management of os peroneum friction syndrome complicated by sesamoid fatigue syndrome. This article presents the plain film, sonographic and magnetic resonance imaging findings in a case of os peroneum friction syndrome complicated by a sesamoid fatigue fracture as well as reviewing the pertinent literature.

Os peroneum friction syndrome complicated by sesamoid fatigue fracture: a new radiological diagnosis? Case report and literature review

International Nuclear Information System (INIS)

Bashir, Waseem A.; Connell, David A.; Lewis, Steve; Cullen, Nicholas

2009-01-01

Injuries to the peroneal tendons are relatively common worldwide but tendon rupture without significant trauma is uncommon. Ankle mechanics can be seriously affected by disruption of one or both of the peroneal tendons although complete rupture can also remain asymptomatic. Accessory ossicles are sesamoid bones and are common findings in routine radiology of the foot and ankle. Although in the vast majority these ''os'' are normal variants of anatomy, they can lead to painful syndromes and suffer fractures and even undergo degenerative changes in response to overuse and trauma. Although similar syndromes have been discussed in the surgical literature, there is a lack of literature describing the use of modern imaging in the accurate diagnosis and its subsequent assistance towards appropriate management of os peroneum friction syndrome complicated by sesamoid fatigue syndrome. This article presents the plain film, sonographic and magnetic resonance imaging findings in a case of os peroneum friction syndrome complicated by a sesamoid fatigue fracture as well as reviewing the pertinent literature. (orig.)

BING-NEEL SYNDROME: ILLUSTRATIVE CASES AND COMPREHENSIVE REVIEW OF THE LITERATURE

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Marzia Varettoni

2017-10-01

Full Text Available The Bing-Neel syndrome is a rare neurological complication of Waldenström’s Macroglobulinemia which results from a direct involvement of central nervous system by malignant lymphoplasmacytic cells. The clinical suspicion of Bing-Neel syndrome may be difficult because neurologic symptoms are heterogeneous, non specific and sometimes underhand. A definitive diagnosis of Bing-Neel syndrome can be confidently made using brain and spinal cord magnetic resonance imaging as well as histopathology and/or cerebrospinal fluid analysis to confirm the neoplastic infiltration of central nervous system. The detection in the cerebrospinal fluid of patients with Bing-Neel syndrome of the MYD88 (L265P somatic mutation, which is highly recurrent in Waldenström’s Macroglobulinemia, revealed useful for the diagnosis and monitoring of central nervous system involvement. Despite recommendations recently published, there is still no clear consensus on treatment of Bing-Neel syndrome, which includes systemic immunochemotherapy, intrathecal chemotherapy and brain irradiation as possible options. Ibrutinib, a Bruton kinase inhibitor highly active in patients with Waldenström’s Macroglobulinemia, has been recently added to the therapeutic armamentarium of Bing-Neel syndrome due to its ability to pass the blood-brain barrier. However, prospective clinical trials are eagerly awaited with the aim to define the optimal treatment strategy.  Here we describe four illustrative cases of Bing-Neel syndrome diagnosed and treated at our Institution and review the literature on this topic.

The status of dermatoglyphics as a biomarker of Tel Hashomer camptodactyly syndrome: a review of the literature.

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Wijerathne, Buddhika T B; Meier, Robert J; Agampodi, Suneth B

2016-09-20

Tel Hashomer camptodactyly syndrome is a rare disease and only a few cases have been reported. Dermatoglyphics potentially provide relevant phenotypic biomarkers that were initially noted as a vital clinical feature of this disease. Dermatoglyphics possibly can indicate growth disturbances that took place during early fetal development at the time when epidermal ridges were being formed into discernable patterns. Consequently, these intrauterine effects might well have occurred in association with the expression of the Tel Hashomer camptodactyly syndrome. Therefore, this review was undertaken to provide, as far as we know, the first attempt to broadly assess dermatoglyphic features that are connected with the Tel Hashomer camptodactyly syndrome. If a developmental association between dermatoglyphics and Tel Hashomer camptodactyly can be firmly established, this would probably document that Tel Hashomer camptodactyly disease has its origins during the early fetal period. A systematic literature search was conducted using articles from PubMed (Medline), POPLINE, Trip Database, Cochrane Library, and gray literature up to 31 March 2015. The review was performed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses statement. Fourteen relevant publications were included in the review. There were 23 cases of patients with Tel Hashomer camptodactyly syndrome that were described in these published articles. We reviewed the dermatoglyphics of 21 available cases out of all of the published and electronically available cases of Tel Hashomer camptodactyly. Eight cases reported whorls to be the most common digital pattern with an expected rise of ridge count. Two cases show significantly high frequencies of arch patterns. Further, there were increased numbers of palmar creases, along with abnormal flexion creases or other palmar dermatoglyphic abnormalities reported in all cases. This review highlighted the desirability of thoroughly observing and

COLQ-mutant congenital myasthenic syndrome with microcephaly: A unique case with literature review

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Al-Mobarak Sulaiman Bazee

2017-07-01

Full Text Available Congenital Myasthenic Syndrome (CMS is a group of inherited neuromuscular junction disorders caused by defects in several genes. Clinical features include delayed motor milestones, recurrent respiratory illnesses and variable fatigable weakness. The central nervous system involvement is typically not part of the CMS. We report here a Saudi girl with genetically proven Collagen Like Tail Subunit Of Asymmetric Acetylcholinesterase (COLQ mutation type CMS who has global developmental delay, microcephaly and respiratory failure. We have reviewed the literature regarding COLQ-type CMS and to the best of our knowledge this is the first ever reported association of congenital myasthenia syndrome with microcephaly.

Borderline personality disorder and polycystic ovary syndrome: A review of the literature.

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Tan, Raelene Ym; Grigg, Jasmin; Kulkarni, Jayashri

2018-02-01

This review examines the existing evidence for the relationship between borderline personality disorder and polycystic ovary syndrome, and to identify commonalities in etiological mechanisms of borderline personality disorder and polycystic ovary syndrome that might explain the relationship between these seemingly disparate disorders. A search of Medline, EMBASE and Cochrane Central was undertaken on 5 December 2016 to identify studies investigating women with borderline personality disorder and polycystic ovary syndrome (or symptoms and markers specific to polycystic ovary syndrome). Nine studies were identified, including three cross-sectional studies investigating symptoms of polycystic ovary syndrome in women with borderline personality disorder, two cross-sectional and one cohort study examining the prevalence of psychiatric diagnoses in women with polycystic ovary syndrome and three case reports of comorbid borderline personality disorder and polycystic ovary syndrome. Overall, the literature shows women with borderline personality disorder to have higher than expected serum androgen levels and incidence of polycystic ovaries, which can be key features of polycystic ovary syndrome. However, this research is still in its infancy, which limits our understanding of this potential comorbid phenomenon. Given the emerging anecdotal and empirical evidence to date, a theoretical discussion of the potential psychoneuroendocrinological mechanism underlying the borderline personality disorder and polycystic ovary syndrome comorbidity is provided. Further rigorous studies using standardized diagnostic criteria for polycystic ovary syndrome are warranted. Specifically, the use of prospective controlled cohort studies may be able to determine the causality and temporality of observed comorbid borderline personality disorder and polycystic ovary syndrome.

Os peroneum friction syndrome complicated by sesamoid fatigue fracture: a new radiological diagnosis? Case report and literature review

Energy Technology Data Exchange (ETDEWEB)

Bashir, Waseem A.; Connell, David A. [Royal National Orthopaedic Hospital NHS Trust, Department of Radiology, London, Middlesex (United Kingdom); Lewis, Steve [Craven Cottage, Fulham Football Club, London (United Kingdom); Cullen, Nicholas [The Royal National Orthopaedic Hospital NHS Trust, Department of Orthopaedics, London, Middlesex (United Kingdom)

2009-02-15

Injuries to the peroneal tendons are relatively common worldwide but tendon rupture without significant trauma is uncommon. Ankle mechanics can be seriously affected by disruption of one or both of the peroneal tendons although complete rupture can also remain asymptomatic. Accessory ossicles are sesamoid bones and are common findings in routine radiology of the foot and ankle. Although in the vast majority these ''os'' are normal variants of anatomy, they can lead to painful syndromes and suffer fractures and even undergo degenerative changes in response to overuse and trauma. Although similar syndromes have been discussed in the surgical literature, there is a lack of literature describing the use of modern imaging in the accurate diagnosis and its subsequent assistance towards appropriate management of os peroneum friction syndrome complicated by sesamoid fatigue syndrome. This article presents the plain film, sonographic and magnetic resonance imaging findings in a case of os peroneum friction syndrome complicated by a sesamoid fatigue fracture as well as reviewing the pertinent literature. (orig.)

Endoscopic Endonasal Approach in Skull Base Chondrosarcoma Associated with Maffucci Syndrome: Case Series and Literature Review.

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Beer-Furlan, André; Balsalobre, Leonardo; Vellutini, Eduardo A S; Stamm, Aldo C

2016-01-01

Maffucci syndrome is a nonhereditary disorder in which patients develop multiple enchondromas and cutaneous, visceral, or soft tissue hemangiomas. The potential malignant progression of enchondroma into a secondary chondrosarcoma is a well-known fact. Nevertheless, chondrosarcoma located at the skull base in patients with Maffuci syndrome is a very rare condition, with only 18 cases reported in the literature. We report 2 other cases successfully treated through an expanded endoscopic endonasal approach and discuss the condition based on the literature review. Skull base chondrosarcoma associated with Maffucci syndrome is a rare condition. The disease cannot be cured, therefore surgical treatment should be performed in symptomatic patients aiming for maximal tumor resection with function preservation. The endoscopic endonasal approach is a safe and reliable alternative for the management of these tumors. Copyright © 2016 Elsevier Inc. All rights reserved.

[Refeeding syndrome: a review of the literature].

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Rohrer, S; Dietrich, J W

2014-06-01

The refeeding syndrome is a dangerous condition, which may even lead to death. The syndrome occurs after re-establishment of adequate nutrition in malnourished and cachectic patients. More specifically its occurrence has been reported during oral, enteral and parenteral feeding. Early diagnosis is crucial for adequate and timely therapy. However, due to a lack of knowledge in the community this is not always achieved. The leading symptom is hypophosphatemia, often accompanied by electrolyte disturbances and vitamin and trace element deficiencies. Due to a concomitant administration of carbohydrates and intravenous fluid volume it may also lead to hypervolemia with cardiac failure. Compromise of other organ functions with a varying degree of severity, even leading to death, have been reported. The most efficient prevention of the refeeding syndrom is recommended by an early identification of patients at risk and the administration of an initially lower caloric nutrition accompanied by a tight and regularly scheduled observation of relevant laboratory parameters. This literature research included the following terms: "refeeding syndrome" and "hypophosphataemia" including the 2006 guidelines from the National Institute for Health and Clinical Excellence (UK). © Georg Thieme Verlag KG Stuttgart · New York.

Sirenomelia: a new type, showing VACTERL association with Thomas syndrome and a review of literature.

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Lhuaire, Martin; Jestin, Agnès; Boulagnon, Camille; Loock, Mélanie; Doco-Fenzy, Martine; Gaillard, Dominique; Diebold, Marie-Danièle; Avisse, Claude; Labrousse, Marc

2013-03-01

Sirenomelia or "mermaid syndrome" is a rare congenital anomaly known since antiquity. This congenital anomaly is defined as a polymalformative syndrome that associates major muscle and skeleton abnormalities (unique lower limbs) with visceral abnormalities (unilateral or bilateral renal agenesis, anomalies of the abdominal vascularisation). This phenotype, typical of sirenomelia syndrome, may be more or less severe. The pathogenic mechanisms of this syndrome are still debated and its etiology remains unknown. We report here a new type of sirenomelia that we observed in a fetus belonging to the collection of the Department of Anatomy of Reims, which led us to perform a comprehensive review of the literature on the subject: this type has never been reported and cannot be classified according to the Stocker and Heifetz classification. Moreover, this case also presents a VACTERL association with Thomas syndrome. Copyright © 2013 Wiley Periodicals, Inc.

Review of the refeeding syndrome.

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Kraft, Michael D; Btaiche, Imad F; Sacks, Gordon S

2005-12-01

Refeeding syndrome describes a constellation of metabolic disturbances that occur as a result of reinstitution of nutrition to patients who are starved or severely malnourished. Patients can develop fluid and electrolyte disorders, especially hypophosphatemia, along with neurologic, pulmonary, cardiac, neuromuscular, and hematologic complications. We reviewed literature on refeeding syndrome and the associated electrolyte abnormalities, fluid disturbances, and associated complications. In addition to assessing scientific literature, we also considered clinical experience and judgment in developing recommendations for prevention and treatment of refeeding syndrome. The most important steps are to identify patients at risk for developing refeeding syndrome, institute nutrition support cautiously, and correct and supplement electrolyte and vitamin deficiencies to avoid refeeding syndrome. We provide suggestions for the prevention of refeeding syndrome and suggestions for treatment of electrolyte disturbances and complications in patients who develop refeeding syndrome, according to evidence in the literature, the pathophysiology of refeeding syndrome, and clinical experience and judgment.

Klinefelter′s syndrome: Report of a case from Sokoto, Northern Nigeria and review of literature

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Anas A Sabir

2013-01-01

Full Text Available Herein, we report, review and discuss the literature on Klinefelter′s syndrome (KS with our findings during an out-patient medical clinic at Usmanu Danfodiyo University Teaching Hospital Sokoto, Nigeria. The aim of the report is to create awareness and highlight to clinicians, the occurrence of KS in patients with infertility.

Exploding head syndrome: six new cases and review of the literature.

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Frese, Achim; Summ, Oliver; Evers, Stefan

2014-09-01

Exploding head syndrome (EHS) is characterized by attacks of a sudden noise or explosive feeling experienced in the head occurring during the transition from wake to sleep or from sleep to wake. We present six new cases extending the clinical experience with the syndrome. We also reviewed all available cases from the scientific literature and evaluated the typical features of EHS. The female to male ratio is 1.5 to 1. The median age at onset is 54. In average, one attack per day to one attack per week occurs. Some patients suffer from several attacks per night. In about half of all patients, a chronic time course can be observed but episodic or sporadic occurrence is also common. The most frequent accompanying symptoms beside the noise are fear and flashes of light. Polysomnographic studies do not reveal any specific sleep pattern associated with EHS. Tricyclic antidepressants are helpful in some patients. However, most patients do not need treatment because of the benign nature of the syndrome. EHS is a well-defined disease entity with a benign nature. © International Headache Society 2014 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.

Successful treatment with tacrolimus in TAFRO syndrome: two case reports and literature review.

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Shirai, Taiichiro; Onishi, Akira; Waki, Daisuke; Saegusa, Jun; Morinobu, Akio

2018-06-01

TAFRO syndrome is a systemic inflammatory disorder characterized by thrombocytopenia, anasarca, fever, reticulin fibrosis, renal dysfunction, and organomegaly. In contrast to that in multicentric Castleman disease, interleukin-6 targeting strategies seem ineffective in some TAFRO syndrome cases; however, the optimal treatment remains unclear. Here, we report 2 cases of TAFRO syndrome, where 1 with cardiomyopathy, successfully treated with tacrolimus. This is the first case report of successful treatment with tacrolimus in TAFRO syndrome. Both patients (cases 1 and 2) developed fever, anasarca, thrombocytopenia, renal dysfunction, and mild hepatosplenomegaly. In both patients, lymph node pathology revealed mixed type Castleman disease-like features, and bone marrow showed reticulin myelofibrosis. TAFRO syndrome was diagnosed based on the patients' laboratory, clinical, and pathologic findings. In case 2, we observed a rare complication of cardiomyopathy with no evidence of takotsubo cardiomyopathy or viral myocarditis. In case 1, tocilizumab combined with glucocorticoids was ineffective and caused septic shock; additionally, cyclosporine A was discontinued because of hepatotoxicity. However, tacrolimus was effective in resolving TAFRO syndrome without any adverse events. In case 2, tacrolimus completely reversed TAFRO syndrome and was also effective in cardiomyopathy. This report suggests that tacrolimus is potentially effective and safe as an initial treatment and a glucocorticoid-sparing agent. Our literature review shows that calcineurin inhibitors, including tacrolimus, may be effective in TAFRO syndrome. Since previous studies indicate a role of Th1 inflammation in TAFRO syndrome pathogenesis, tacrolimus may, therefore, be effective in treating TAFRO syndrome.

Cardiovascular outcomes of pregnancy in Marfan's syndrome patients: A literature review.

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Kim, So Yeon; Wolfe, Diana S; Taub, Cynthia C

2018-03-01

Pregnancy in patients with Marfan's syndrome (MFS) carries an increased risk of cardiovascular complications, resulting in increased maternal and fetal mortality and morbidity. Literature on MFS pregnant patients is relatively sparse, and there has yet to be a concrete consensus on the management of this unique patient population. The purpose of our paper is to provide a literature review of case reports and studies on MFS during pregnancy (published between 2005 and 2015) and to explore cardiovascular outcomes of patients with MFS. Of the 852 women in our review, there were 1112 pregnancies, with an aortic dissection rate of 7.9% and mortality of 1.2%. Data demonstrated a trend that patients whose aortic diameter ≥40 mm had a greater rate of dissection than MFS patients whose aortic diameter pregnancy or currently pregnant should be carefully counseled about the maternal and fetal risks throughout pregnancy. MFS patients whose aortic diameters ≥40 mm should be advised to ideally await pregnancy until prophylactic aortic surgery. As MFS varies in its phenotypic expression, each patient's risk of adverse cardiac events should be assessed individually through a joint Maternal Fetal Medicine and Cardiology Center. © 2017 Wiley Periodicals, Inc.

Transient Gerstmann syndrome as manifestation of stroke: Case report and brief literature review

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Rafael Batista João

Full Text Available ABSTRACT Gerstmann Syndrome (GS is a rare neurological condition described as a group of cognitive changes corresponding to a tetrad of symptoms comprising agraphia, acalculia, right-left disorientation and finger agnosia. It is known that some specific brain lesions may lead to such findings, particularly when there is impairment of the angular gyrus and adjacent structures. In addition, the possibility of disconnection syndrome should be considered in some cases. The purpose of this article is to report a case of a young, cardiac patient, non-adherent to treatment, who presented with a stroke in which transient clinical symptoms were compatible with the tetrad of GS. The case report is followed by a discussion and brief review of the relevant literature.

Anatomical Changes and Audiological Profile in Branchio-oto-renal Syndrome: A Literature Review

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Lindau, Tâmara Andrade

2014-01-01

Full Text Available Introduction Branchio-oto-renal (BOR syndrome is an autosomal-dominant genetic condition with high penetrance and variable expressivity, with an estimated prevalence of 1 in 40,000. Approximately 40% of the patients with the syndrome have mutations in the gene EYA1, located at chromosomal region 8q13.3, and 5% have mutations in the gene SIX5 in chromosome region 19q13. The phenotype of this syndrome is characterized by preauricular fistulas; structural malformations of the external, middle, and inner ears; branchial fistulas; renal disorders; cleft palate; and variable type and degree of hearing loss. Aim Hearing loss is part of BOR syndrome phenotype. The aim of this study was to present a literature review on the anatomical aspects and audiological profile of BOR syndrome. Data Synthesis Thirty-four studies were selected for analysis. Some aspects when specifying the phenotype of BOR syndrome are controversial, especially those issues related to the audiological profile in which there was variability on auditory standard, hearing loss progression, and type and degree of the hearing loss. Mixed loss was the most common type of hearing loss among the studies; however, there was no consensus among studies regarding the degree of the hearing loss.

Laugier-Hunziker syndrome: A case report and review of the literature.

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Rangwala, Sophia; Doherty, Christy B; Katta, Rajani

2010-12-15

Laugier-Hunziker syndrome (LHS) is a rare acquired disorder characterized by diffuse macular hyperpigmentation of the oral mucosa and, at times, longitudinal melanonychia. Although LHS is considered a benign disease with no systemic manifestations or malignant potential, it is important to rule out other mucocutaneous pigmentary disorders that do require medical management. Prompt clinical recognition also averts the need for excessive and invasive procedures and treatments. To date, only four cases have been reported in the United States. We present a 77-year-old man who had clinical features typical of LHS and we then provide a review of the literature on LHS and its mimickers.

PFAPA syndrome in a 2-year-old girl: a case report and literature review

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Jakub Haracz

2018-03-01

Full Text Available PFAPA syndrome is the most common periodic fever syndrome in our geographic zone. It usually develops in children under 5 years of age and is classified as an autoinflammatory disease. PFAPA syndrome is characterised by episodes of high fever (>39°C accompanied by aphthous stomatitis, pharyngitis, and cervical lymphadenopathy, which occur cyclically at 25–35-day intervals and last between 3 and 6 days. Patients experience no symptoms between these episodes. The disease resolves with age. The cause of PFAPA and the predisposing factors remain unknown. The paper presents a clinical case of a 2-year-old girl diagnosed in the Department of Paediatric Pulmonology and Rheumatology of the Medical University of Lublin due to recurrent fever episodes. After exclusion of other causes, PFAPA syndrome was diagnosed. Corticosteroid treatment was used and good therapeutic response was achieved. The paper also presents a literature review on the current diagnosis and treatment modalities in PFAPA.

Cotard's Syndrome in a Patient with Schizophrenia: Case Report and Review of the Literature.

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Huarcaya-Victoria, Jeff; Ledesma-Gastañadui, Mario; Huete-Cordova, Maria

2016-01-01

Jules Cotard described, in 1880, the case of a patient characterized by delusions of negation, immortality, and guilt as well as melancholic anxiety among other clinical features. Later this constellation of symptoms was given the eponym Cotard's syndrome, going through a series of theoretical vicissitudes, considering itself currently as just the presence of nihilistic delusions. The presentation of the complete clinical features described by Cotard is a rare occurrence, especially in the context of schizophrenia. Here we present the case of a 50-year-old male patient with schizophrenia who developed Cotard's syndrome. The patient was treated with aripiprazole, showing improvement after two weeks of treatment. A review of the literature is performed about this case.

Cortisol, obesity and the metabolic syndrome: A cross-sectional study of obese subjects and review of the literature

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Abraham, SB; Rubino, D; Sinaii, N; Ramsey, S; Nieman, LK

2013-01-01

Circulating cortisol and psychosocial stress may contribute to the pathogenesis of obesity and metabolic syndrome. To evaluate these relationships, we performed a cross-sectional study of 369 overweight and obese subjects and 60 healthy volunteers and reviewed the previous literature. Overweight and obese subjects had at least two other features of Cushing?s syndrome. They underwent measurements representing cortisol dynamics (24h urine cortisol excretion (UFC), bedtime salivary cortisol, 1 m...

Genetics and presence of non-syndromic supernumerary teeth: A mystery case report and review of literature

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Neha Khambete

2012-01-01

Full Text Available Presence of supernumerary teeth is well-recognized clinical phenomenon. However, it is uncommon to find multiple supernumeraries in individuals with no other associated disease or syndrome. Presence of multiple supernumerary teeth is thought to have genetic component. We report a rare case where multiple supernumerary teeth were seen without presence of any other syndrome in 3 generations; father, son, and two grandsons. We also present a review of similar cases published in literature till date. The role of genetics in development of supernumerary teeth is highlighted.

Long-term Consequences of the Posterior Reversible Encephalopathy Syndrome in Eclampsia and Preeclampsia : A Review of the Obstetric and Nonobstetric Literature

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Postma, Ineke R.; Slager, Sjoerdtje; Kremer, Hubertus P. H.; de Groot, Jan Cees; Zeeman, Gerda G.

This review summarizes the long-term consequences of the posterior reversible encephalopathy syndrome (PRES) that have been described in the obstetric literature (eclampsia and preeclampsia) and compares these with data from the nonobstetric literature. Preeclampsia is characterized by new-onset

Genetic and Medical Considerations of Autism: A Literature Review.

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Silver, Kathi O.

This literature review, from 1990 to the present, discusses the characteristics of autism and the comorbidity of mental retardation and autism. Specific medical syndromes that complement the heterogeneity concept are described, including epilepsy, fragile X syndrome, Rett syndrome, tuberous sclerosis, and Asperger syndrome. The paper presents some…

Management of syndromic diarrhea/tricho-hepato-enteric syndrome: A review of the literature.

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Fabre, Alexandre; Bourgeois, Patrice; Coste, Marie-Edith; Roman, Céline; Barlogis, Vincent; Badens, Catherine

2017-08-01

Syndromic diarrhea/tricho-hepato-enteric syndrome (SD/THE) is a rare disease linked to the loss of function of either TTC37 or SKIV2L, two components of the SKI complex. It is characterized by a combination of 9 signs (intractable diarrhea, hair abnormalities, facial dysmorphism, immune abnormalities, IUGR/SGA, liver abnormalities, skin abnormalities, congenital heart defect and platelet abnormalities). We present a comprehensive review of the management of SD/THE and tested therapeutic regimens. A review of the literature was conducted in May 2017: 29 articles and 2 abstracts were included describing a total of 80 patients, of which 40 presented with mutations of TTC37 , 14 of SKIV2L . Parenteral nutrition was used in the management of 83% of the patients and weaned in 44% (mean duration of 14.97 months). Immunoglobulins were used in 33 patients, but data on efficacy was reported for 6 patients with a diminution of infection ( n = 3) or diarrhea reduction ( n = 2). Antibiotics ( n = 11) provided no efficacy. Steroids ( n = 17) and immunosuppressant drugs ( n = 13) were used with little efficacy and mostly in patients with IBD-like SD/THE. Hematopoietic stem cell transplantation (HSCT) was performed in 4 patients: 2 died, for one it corrected the immune defects but not the other features and for the last one, it provided only a partial improvement. Finally, no specific diet was effective except for some contradictory reports for elemental formula. In conclusion, the management of SD/THE mainly involves parenteral nutrition and immunoglobulin supplementation. Antibiotics, steroids, immunosuppressants, and HSCT are not recommended as principle treatments since there is no evidence of efficacy.

The neuroimaging of Leigh syndrome: case series and review of the literature

International Nuclear Information System (INIS)

Bonfante, Eliana; Riascos, Roy F.; Koenig, Mary Kay; Adejumo, Rahmat B.; Perinjelil, Vinu

2016-01-01

Leigh syndrome by definition is (1) a neurodegenerative disease with variable symptoms, (2) caused by mitochondrial dysfunction from a hereditary genetic defect and (3) accompanied by bilateral central nervous system lesions. A genetic etiology is confirmed in approximately 50% of patients, with more than 60 identified mutations in the nuclear and mitochondrial genomes. Here we review the clinical features and imaging studies of Leigh syndrome and describe the neuroimaging findings in a cohort of 17 children with genetically confirmed Leigh syndrome. MR findings include lesions in the brainstem in 9 children (53%), basal ganglia in 13 (76%), thalami in 4 (24%) and dentate nuclei in 2 (12%), and global atrophy in 2 (12%). The brainstem lesions were most frequent in the midbrain and medulla oblongata. With follow-up an increased number of lesions from baseline was observed in 7 of 13 children, evolution of the initial lesion was seen in 6, and complete regression of the lesions was seen in 3. No cerebral white matter lesions were found in any of the 17 children. In concordance with the literature, we found that Leigh syndrome follows a similar pattern of bilateral, symmetrical basal ganglia or brainstem changes. Lesions in Leigh syndrome evolve over time and a lack of visible lesions does not exclude the diagnosis. Reversibility of lesions is seen in some patients, making the continued search for treatment and prevention a priority for clinicians and researchers. (orig.)

The neuroimaging of Leigh syndrome: case series and review of the literature

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Bonfante, Eliana; Riascos, Roy F. [The University of Texas Medical School at Houston, Department of Diagnostic and Interventional Imaging, Houston, TX (United States); Koenig, Mary Kay [The University of Texas Medical School at Houston, Department of Pediatrics, Division of Child and Adolescent Neurology, Mitochondrial Center of Excellence Leigh Clinic, Houston, TX (United States); Adejumo, Rahmat B.; Perinjelil, Vinu [The University of Texas Medical School at Houston, Department of Pediatrics, Division of Child and Adolescent Neurology, Houston, TX (United States)

2016-04-15

Leigh syndrome by definition is (1) a neurodegenerative disease with variable symptoms, (2) caused by mitochondrial dysfunction from a hereditary genetic defect and (3) accompanied by bilateral central nervous system lesions. A genetic etiology is confirmed in approximately 50% of patients, with more than 60 identified mutations in the nuclear and mitochondrial genomes. Here we review the clinical features and imaging studies of Leigh syndrome and describe the neuroimaging findings in a cohort of 17 children with genetically confirmed Leigh syndrome. MR findings include lesions in the brainstem in 9 children (53%), basal ganglia in 13 (76%), thalami in 4 (24%) and dentate nuclei in 2 (12%), and global atrophy in 2 (12%). The brainstem lesions were most frequent in the midbrain and medulla oblongata. With follow-up an increased number of lesions from baseline was observed in 7 of 13 children, evolution of the initial lesion was seen in 6, and complete regression of the lesions was seen in 3. No cerebral white matter lesions were found in any of the 17 children. In concordance with the literature, we found that Leigh syndrome follows a similar pattern of bilateral, symmetrical basal ganglia or brainstem changes. Lesions in Leigh syndrome evolve over time and a lack of visible lesions does not exclude the diagnosis. Reversibility of lesions is seen in some patients, making the continued search for treatment and prevention a priority for clinicians and researchers. (orig.)

TAFRO Syndrome Associated with EBV and Successful Triple Therapy Treatment: Case Report and Review of the Literature

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Malorie Simons

2016-01-01

Full Text Available TAFRO syndrome is a rare constellation of symptoms: thrombocytopenia, anasarca, reticulin fibrosis of the bone marrow, renal dysfunction, and organomegaly. Its pathogenesis involves an excessive and inappropriate cytokine storm, most notably from IL-6, causing multiorgan failure; however, its etiology is undetermined. Starting in 2012, TAFRO syndrome was first identified in Japan as an atypical variant of Castleman’s disease. Previous reports include various different treatment protocols with inconsistent survival outcomes. Here we report the first known American, EBV positive but HIV and HHV-8 negative, male with TAFRO syndrome. He was successfully treated with an unusual three-drug regimen including tocilizumab, etoposide, and rituximab. We review the literature of TAFRO syndrome, discuss its possible viral etiology, and propose an original treatment regimen.

Coronary artery ectasia in Noonan syndrome: Report of an individual with SOS1 mutation and literature review.

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Calcagni, Giulio; Baban, Anwar; De Luca, Enrica; Leonardi, Benedetta; Pongiglione, Giacomo; Digilio, Maria Cristina

2016-03-01

Noonan syndrome (NS) is the second most frequent hereditary syndrome with cardiac involvement. Pulmonary valve stenosis and hypertrophic cardiomyopathy are the most prevalent cardiovascular abnormalities. We report on a 14-year-old girl with NS due to SOS1 mutation with pulmonary stenosis and idiopathic coronary ectasia. To the best of our knowledge, this is the first report describing coronary ectasia in a patient with NS secondary to a SOS1 mutation. We include a literature review of this rare association. © 2015 Wiley Periodicals, Inc.

PELVIC CONGESTION SYNDROME. METHODS OF DIAGNOSIS AND TREATMENT. LITERATURE REVIEW

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Svetlana Vladimirovna Verezgova

2014-10-01

Full Text Available Pelvic pain syndrome is not rare clinical condition without specific symptoms and usually affects multiparous women. Numerous controversies in the management such patients are still present in current publications.Different diagnostic modalities were and are now used to delineate of anatomy and physiology of pelvic venous system. The well-known and recently developed approaches to treat patients with  pelvic congestion syndrome are discussed in present overview of the scientific literature.

Alice in Wonderland Syndrome, Burning Mouth Syndrome, Cold Stimulus Headache, and HaNDL: Narrative Review.

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Valença, Marcelo M; de Oliveira, Daniella A; Martins, Hugo André de L

2015-10-01

Unusual headache syndromes are not as infrequent in clinical practice as was generally believed. About three fourths of the classified headache disorders found in the ICHD-II can be considered rare. The aim of this narrative review was to perform a literature review of the pathophysiology, clinical presentation, diagnostic criteria, and treatment of the following unusual headache disorders: Alice in Wonderland syndrome, burning mouth syndrome, cold stimulus headache, and the syndrome of transient headache and neurologic deficits with cerebrospinal fluid lymphocytosis. A literature review was performed using PubMed for each of the abovementioned headache disorders. The unusual headache syndromes as a distinct group of disorders are not as infrequent in clinical practice as was generally believed. Some of them, albeit considered as unusual, may occur with relative frequency, such as cold stimulus headache and burning mouth syndrome. © 2015 American Headache Society.

Dental perspective on Sjögren’s syndrome: literature review.

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Jesús Rodríguez

2015-06-01

Full Text Available The human body releases around 500-600mL of saliva daily, however when values of unstimulated whole saliva range from 0.1 to 0.2mL/min, there is a condition called Hyposalivation or hyposialia. Hyposalia is characterized by a large number of systemic conditions, including Sjögren’s syndrome, a chronic autoimmune disease that affects between 0.1 and 3% of the world population and is characterized by exocrinopathy of the salivary glands leading to glandular hypofunction and thus decreasing the normal salivary flow. Saliva is part of innate immunity, when there is a decrease in protein secretion, numerous oral manifestations occur such as dental caries, candidiasis, gingival disease, angular cheilitis, lymphomas of the salivary glands, dysphagia, erythematous and fissured tongue, among others. Currently there is no defined dental treatment, however there are alternative treatments by sialogogues and salivary substitutes, plus non-pharmacological therapies, which seek to maintain the ecology and oral conditions stable, in addition to preventive and restorative dental treatment for lesions already established as a consequence of the disease. The aim of this study is to conduct a literature review on the characteristics, classification, oral manifestations and dental management of Sjögren’s syndrome.

Lhermitte-Duclos disease associated with Cowden's syndrome: Case report and review of the literature

International Nuclear Information System (INIS)

Hernandez Restrepo, Michel; Neira Escobar, Fabian; Borbon Garzon, Alejandra and others

2011-01-01

Cerebellar gangliocytoma or Lhermitte-duclos disease is an unusual pathology, with few reports in the medical literature. it is a tumoral lesion of hamartomatous origin located on the cerebellar cortex, with clinical manifestations related to mass effect at the posterior fossa. In some cases, it is associated with multiple hamartomatous neoplasms or Cowden's syndrome. This report describes a case assessed at Hospital Universitario de la Samaritana and its histolopathogical confirmation, and includes a review of its more relevant semiological and clinical features.

Ulerythema ophryogenes, a rarely reported cutaneous manifestation of noonan syndrome: case report and review of the literature.

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Li, Kayi; Ann Thomas, Mary; Haber, Richard M

2013-01-01

Ulerythema ophryogenes (also known as keratosis pilaris atrophicans faciei) is a rarely reported cutaneous manifestation of Noonan syndrome. Recognizing ulerythema ophryogenes as a cutaneous association in Noonan syndrome may aid in the diagnosis of this relatively common genetic condition. We present a case of a patient with Noonan syndrome and ulerythema ophryogenes associated with a SOS1 mutation and review the literature on this association. To the best of our knowledge, this is the second case of Noonan syndrome proven to be due to an SOS1 mutation in which ulerythema ophryogenes was clinically recognized and specifically diagnosed. The presence of ulerythema ophryogenes in a patient with Noonan syndrome increases the likelihood of a SOS1 mutation. Further reports by dermatologists and medical geneticists documenting ulerythema ophryogenes and not just descriptions of sparse or absent eyebrows will help support this genotype-phenotype correlation.

Etiologic factors in the development of medial tibial stress syndrome: a review of the literature.

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Tweed, Jo L; Avil, Steven J; Campbell, Jackie A; Barnes, Mike R

2008-01-01

Medial tibial stress syndrome is a type of exercise-induced leg pain that is common in recreational and competitive athletes. Although various studies have attempted to find the exact pathogenesis of this common condition, it remains unknown. Various theories in literature from 1976 to 2006 were reviewed using key words. Until recently, inflammation of the periosteum due to excessive traction was thought to be the most likely cause of medial tibial stress syndrome. This periostitis has been hypothesized by some authors to be caused by the tearing away of the muscle fibers at the muscle-bone interface, although there are several suggestions as to which, if any, muscle is responsible. Recent studies have supported the view that medial tibial stress syndrome is not an inflammatory process of the periosteum but instead a stress reaction of bone that has become painful.

Diagnostic Approaches to Sjögren’s Syndrome: a Literature Review and Own Clinical Experience

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Pedro de Sousa Gomes

2012-03-01

Full Text Available Objectives: The purpose of present paper is to critically address the recent advances on diagnostic procedures of Sjögren’s syndrome, taking into account the attained local and systemic features of the disease. Material and Methods: A comprehensive review of the available literature regarding to the diagnostic approaches to Sjögren’s syndrome was conducted. Eligible studies were identified by searching the electronic literature PubMed, Medline, Embase, and ScienceDirect databases for relevant reports (last search update January 2012 combining the MESH heading term “Sjögren’s syndrome”, with the words "diagnosis, diagnostic procedures, salivary gland function, ocular tests, histopathology, salivary gland imaging, serology". The authors checked the references of the selected articles to identify additional eligible publications and contacted the authors, if necessary. Results: Presented article addresses the established diagnostic criteria for Sjögren’s syndrome and critically evaluates the most commonly used diagnostic procedures, presenting data from author’s own clinical experience. Diagnostic criteria for Sjögren’s syndrome are required both by healthcare professionals and patients, namely in order to provide a rational basis for the assessment of the symptoms, establish an individual disease prognosis, and orientate the therapeutic intervention. Conclusions: Sjögren’s syndrome is quite a common autoimmune disease of which the diagnosis and treatment are not easily established. Due to its systemic involvement, it can exhibit a wide range of clinical manifestations that contribute to confusion and delay in diagnosis. The use of proper diagnostic modalities will help to reduce the time to diagnosis and preserve the health and quality of life of patients with Sjögren’s syndrome.

Hodgkin's lymphoma-related vanishing bile duct syndrome: A case report and literature review

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Kiong-Ming Wong

2013-11-01

Full Text Available We report the case of a 38-year-old man who developed vanishing bile duct syndrome in association with Hodgkin's lymphoma. He was noted to have cervical lymphadenopathy and marked elevation of total serum bilirubin at diagnosis. He achieved complete remission with normalization of serum bilirubin after eight courses of Adriamycin, bleomycin, vinblastine, and dacarbazine chemotherapy followed with autologous hematopoietic cell transplantation. Consecutive liver biopsies performed at diagnosis and at the stage of complete remission revealed the disappearance and regeneration of interlobular bile ducts, respectively. Our case provides pathological evidence that Hodgkin's lymphoma-related vanishing bile duct syndrome is a reversible bile duct injury disease. Bilirubin is a reliable serum marker to monitor the treatment response of these cases. The mechanism to develop hyperbilirubinemia with vanishing bile duct in such a case of Hodgkin's lymphoma remains to be studied. A literature review was carried out.

Impact of childhood chronic illnesses on siblings: a literature review.

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O' Brien, Irene; Duffy, Anita; Nicholl, Honor

Childhood illness can have a significant impact on families, particularly on the ill child's siblings. There is a dearth of published literature focusing on the needs of siblings of ill children. This literature review aims to provide an overview of the current healthcare literature in relation to the impact of childhood chronic illness or disability on siblings. A literature review was undertaken by searching the databases CINAHL, PsycINFO, ProQuest and Cochrane Library for relevant articles in English using the search terms: 'siblings', 'chronic illness', 'disability', 'cancer', 'sibling relations', 'sibling adjustment', 'coping', 'family-centred care', 'sibling interventions', 'camps', 'autism', 'Down's syndrome'. Seventeen research studies in total were reviewed. This review focuses on three sibling groups related to children suffering from autism, cancer and Down's syndrome, and are discussed under the following headings: sibling adjustment; family functioning and sibling's coping resources; and intervention programmes. The literature revealed that siblings of children with Down's syndrome were well adjusted to living with their brother or sister. However, there was conflicting information on the adjustment of siblings of children with cancer and autism. An awareness of the harmful effect that living with childhood illness and disability can have on some siblings is essential to enable healthcare professionals to provide supportive interventions to protect siblings' physical and emotional wellbeing.

Fetal and neonatal abnormalities due to congenital rubella syndrome: a review of literature.

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Yazigi, Alexandre; De Pecoulas, Aurelia Eldin; Vauloup-Fellous, Christelle; Grangeot-Keros, Liliane; Ayoubi, Jean-Marc; Picone, Olivier

2017-02-01

Rubella virus infection during the first trimester of pregnancy can cause congenital rubella syndrome (CRS). We aimed to describe the abnormalities in order to define the ultrasound features to look for when performing prenatal scans. The goal of this review is to focus specifically on the signs of CRS accessible to prenatal diagnosis. We analyzed every case of CRS described before and/or after birth that we identified in the Pubmed database and classified them as accessible or not to prenatal diagnosis. The most frequently reported malformations accessible to prenatal diagnosis were: cardiac septal defects, pulmonary artery stenosis, microcephaly, cataract, microphtalmia, and hepatosplenomegaly. This extensive literature review shows that the ultrasound features of CRS are not well known, even though rubella was the first teratogenic virus described. This review will help clinicians in the management of rubella during pregnancy by clarifying the findings to be sought.

Lemierre syndrome: two cases and a review.

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Syed, Mohammed Iqbal; Baring, David; Addidle, Michael; Murray, Craig; Adams, Calum

2007-09-01

Lemierre syndrome is usually caused by an acute oropharyngeal infection in previously healthy young adults, resulting in thrombophlebitis of the internal jugular vein, leading to metastatic septic embolization and bacteraemia. The usual organism is Fusobacterium necrophorum. Lemierre syndrome, not so long ago labeled as the "forgotten disease," is on the rise. Today with increasing antibiotic-resistant organisms, and decreasing awareness of the syndrome, subsequent re-emergence of this "forgotten disease" is becoming more common in clinical settings. Lemierre syndrome has significant morbidity. Cranial nerve complications associated with the condition have been increasingly diagnosed in the last few years. Looking back at literature on Lemierre syndrome, there have been review articles in medical and microbiology journals but rarely in otolaryngology journals. By presenting our cases we demonstrate the diverse presentations and severity of the illness. A review of the literature and a case report on two cases seen in our institution in the last year are presented. Each of these had varied presentations and neurologic complications-one developed 9th to 12th cranial nerve palsies and Horner syndrome, which have not been described in previous literature, and the other developed polyneuropathy and a frontal lobe infarct among other multisystem complications. Diagnosis of Lemierre syndrome is not always straightforward as clinical features are variable and blood cultures are often negative. Awareness of the syndrome and a high degree of suspicion are needed.

Turner's syndrome and pregnancy: has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review.

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Bouchlariotou, Sofia; Tsikouras, Panagiotis; Dimitraki, Marina; Athanasiadis, Apostolos; Papoulidis, Ioannis; Maroulis, George; Liberis, Anastasios; Liberis, Vasileios

2011-05-01

Turner's syndrome is characterized by an ovarian failure which occurs in most cases before puberty and leads to infertility. In less than 10% of women with Turner syndrome, puberty may occur and spontaneous pregnancies is possible but with a high risk of fetal loss, chromosomal and congenital abnormalities. We present the case of a 33-year-old woman with a mosaic Turner's syndrome karyotype 45,X/47,XXX who conceived spontaneously and had two successful pregnancies. Short stature was the only manifestation of Turner's syndrome. In the present report, we reviewed the available literature on the fertility of women with Turner's syndrome and the phenotypic effects of mosaicism for a 47,XXX cell line in Turner's syndrome.

Ophthalmic pathology of Nance-Horan syndrome: case report and review of the literature.

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Ding, Xiaoyan; Patel, Mrinali; Herzlich, Alexandra A; Sieving, Pamela C; Chan, Chi-Chao

2009-09-01

Nance-Horan syndrome (NHS) is a rare X-linked disorder typified by dense congenital central cataracts, microcornea, anteverted and simplex pinnae, brachymetacarpalia, and numerous dental anomalies due in most cases to a mutation in the NHS gene. We present a case of clinical manifestation and ocular pathology in a patient with NHS. This article also reviews and discusses the relevant literature. Classic and novel ocular pathological findings of a young male with NHS are described, including congenital cataracts, infantile glaucoma, scleral staphyloma, and severe retinal cystoid degeneration. We report a new pathological finding of severe retinal cystoid degeneration in this NHS patient and confirm abnormal development of the anterior chamber angle structure. These findings, coupled with our analysis of the available NHS literature, provide new understanding of the histopathological basis of ocular abnormalities and vision loss in NHS.

Cellular Neurothekeoma in a Female with Guillain-Barré Syndrome: A Case Report and Review of the Literature

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Divya Sachdev

2014-11-01

Full Text Available Cellular neurothekeoma is a rare cutaneous tumor that occurs more frequently in women. A 68-year-old female with a history of left nasal alar basal cell carcinoma and Guillain-Barré syndrome presented to the clinic with a 3-mm firm skin-colored papule with scattered telangiectasias. Histopathologic examination with immunochemistry of the lesion was consistent with cellular neurothekeoma. It stained positive for microphthalmia transcription factor and NKI-C3 and negative for HMB-45 and S-100. The lesion was excised with 3-mm margins, and no recurrence was noted within 1 year of follow-up. We present a case of cellular neurothekeoma in a patient with a history of Guillain-Barré syndrome as well as a review of the literature. Our case report is unique in that no prior association has been found in the literature between cellular neurothekeoma and Guillain-Barré syndrome. © 2014 S. Karger AG, Basel

[Locked-in syndrome in literature, cinema and television].

Science.gov (United States)

Collado-Vázquez, Susana; Carrillo, Jesús M

2012-05-01

Many diseases have been dealt with in literature, cinema or television, including epilepsy, cancer, mental disorders, movement disorders or infectious diseases. Among the many pathologies that have been considered, locked-in syndrome is one that has been of particular interest to writers and film-makers. To review how locked-in syndrome has been portrayed in literature, cinema and television. Locked-in syndrome is a state that is generally secondary to a brainstem lesion with involvement of the corticobulbar and corticospinal tracts, thereby impeding the patient from producing any kind of motor response. Patients remain conscious, maintain their higher functions and can both see and hear. Yet, they are quadriplegic with paralysis of the lower cranial nerves and cannot move or speak. They only conserve the capacity to move their eyes vertically and their eyelids, which they can use as a way to communicate. This pathology has come to the attention of writers and film and television directors, who have described characters with this syndrome. Likewise, there are also stories told in the first person by patients who have experienced this condition and who have written their story using eye movements as a means to communicate. Literature, cinema and television have shown an interest in locked-in syndrome and have placed special attention on the problems these patients have to communicate with others.

Styloid-carotid artery syndrome treated surgically with Piezosurgery: a case report and literature review.

Science.gov (United States)

Hoffmann, Eike; Räder, Christian; Fuhrmann, Hendrik; Maurer, Peter

2013-03-01

Styloid-carotid artery syndrome was first described by Eagle and is associated with cervical and facial pain caused by head movement resulting from mechanical compression of the carotid nerve plexus due to an elongated styloid process. The case of a 49-year-old man with persistent cervical pain, neurological symptoms and an elongated styloid process of 7.5 cm is reported here; this patient was successfully treated using Piezosurgery. In addition, a literature review is included. Copyright © 2012 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

Cotard’s Syndrome in a Patient with Schizophrenia: Case Report and Review of the Literature

Directory of Open Access Journals (Sweden)

Jeff Huarcaya-Victoria

2016-01-01

Full Text Available Jules Cotard described, in 1880, the case of a patient characterized by delusions of negation, immortality, and guilt as well as melancholic anxiety among other clinical features. Later this constellation of symptoms was given the eponym Cotard’s syndrome, going through a series of theoretical vicissitudes, considering itself currently as just the presence of nihilistic delusions. The presentation of the complete clinical features described by Cotard is a rare occurrence, especially in the context of schizophrenia. Here we present the case of a 50-year-old male patient with schizophrenia who developed Cotard’s syndrome. The patient was treated with aripiprazole, showing improvement after two weeks of treatment. A review of the literature is performed about this case.

Gorlin Goltz Syndrome : A Review

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M S Deepa

2003-01-01

Full Text Available Gorlin syndrome is a rare autosomal dominant disorder characterized by multiple basal cell carcinomas, odontogenic keratocysts, tumors, and systemic anomalies. Early diac-iosis and treatment :s of utmost importance in reducing the severity of the long-term sequelae of this syndrome. and review of literature documenting both major and lesser-known manifestations of this disorder is given here.

Review Diagnosis and management of Munchausen's Syndrome by ...

African Journals Online (AJOL)

A systematic literature review was conducted to identify and synthesise the relevant literature on the epidemiology, presentation, assessment and management of Munchausen's Syndrome by Proxy (MSP). This included collating information from published and unpublished sources. The purpose of the review was to provide ...

Klinefelter’s Syndrome and sexual offending: a literature review

OpenAIRE

O'Donovan, Rebecca; Völlm, Birgit

2017-01-01

Background: Klinefelter’s Syndrome is a sex chromosome abnormality affecting approximately 1 in 1000 males. There have been suggestions that it is associated with a higher than average prevalence of sexual offending but to what extent does research evidence support this assertion?\\ud Aims: To conduct a systematic review of published research to establish the prevalence of sexual offending in males with Klinefelter’s Syndrome.\\ud Method: The databases MEDLINE, PsycINFO and EMBASE were searched...

[Cotard's syndrome: Case report and a brief review of literature].

Science.gov (United States)

Moschopoulos, N P; Kaprinis, S; Nimatoudis, J

2016-01-01

The term "Cotard's syndrome" is used to describe a number of clinical features, mostly hypochondriac and nihilistic delusions, the most characteristic of which are the ideas "I am dead" and "my internal organs do not exist". Besides, anxious and depressed mood, delusions of damnation, possession and immortality, suicidal and self-mutilating behavior are included. The first description of the syndrome was made in 1880 by Cotard, who presented the case of a female patient in a lecture. He originally named it "hypochondriac delusion", and some years later "delusion of negations", while it was named "Cotard delusion" after his death. In international literature, the terms "nihilistic delusion" and "Cotard's syndrome" prevailed over "delusion of negations" and "Cotard delusion". In the present study we report the case of a 59 year-old woman, who was admitted to our department after a suicide attempt, and who showed symptoms of Cotard's syndrome for about two years, namely depressed mood, hypochondriac and nihilistic delusions, delusions of immortality and damnation, suicidal ideation, severe psychomotor retardation, diminished motivation and tendency to stay in bed. She never took the medication she was prescribed, and at times she refused to eat. During her hospitalization, there was performed a full blood panel and medical imaging, that showed chronic ischemic infarctions, periventricular leukoencephalopathy and diffuse cerebral atrophy in MRI. All the other test results were normal. She was administered treatment with haloperidol, mirtazapine and venlafaxine. Gradually, her psychomotor ability, motivation and mood improved, she didn't express suicidal ideation, her delusions were less intense and she was able to question them, but they weren't eliminated. She was discharged in improved condition, after 44 days. Cotard's syndrome isn't mentioned in the current classification systems (ICD-10, DSM-5). In literature though, it has been divided into three types, according

Treatment of Hyperthyroidism in Down Syndrome: Case Report and Review of Literature.

Science.gov (United States)

Ali, Fawzi E.; Al-Busairi, Waleed A.; Al-Mulla, Fatema A.

1999-01-01

A case of an institutionalized adult male with Down syndrome and hyperthyroidism is reported. After treatment with radioactive iodine, he was found to be markedly hypothyroid when he was reviewed 11 weeks later. Three treatment options for hyperthyroidism in Down syndrome are reviewed: surgery, medical treatments, and radiotherapy. (Author/CR)

[Neuropsychiatric symptoms in Sotos syndrome. Case report and review of the literature].

Science.gov (United States)

Kessler, Holger; Kraft, Susanne

2008-01-01

Sotos syndrome, or cerebral gigantism, is a rare genetic syndrome characterized by excessive growth during childhood, macrocephaly, distinctive facial gestalt and learning difficulties. It is caused by mutations or deletions of the NSD-1 gene. Most cases are sporadic. Apart from a number of physical abnormalities that are commonly present, a high prevalence of cognitive, emotional and behavioural problems in children with Sotos syndrome can be assumed. However, there has been almost no literature about psychiatric symptoms in adults with Sotos syndrome so far; one case of psychosis was reported. In the present case, the authors present psychopathological features of an adult patient with Sotos syndrom who developed - among other things - psychotic symptoms.

17q12 Deletion in a patient with Williams syndrome: Case report and review of the literature.

Science.gov (United States)

Cohen, Lilian; Samanich, Joy; Pan, Quilu; Mehta, Lakshmi; Marion, Robert

2012-06-01

Williams syndrome (WS) is a complex genomic disorder entailing distinctive facial dysmorphism, cardiovascular abnormalities, intellectual disabilities, unusual behavioral features, and a specific cognitive profile with considerable variability. Additional symptoms include endocrine abnormalities, renal anomalies and connective tissue disorders. We report a monozygotic twin patient with WS who presented with multicystic kidneys in the newborn period, and, in addition to the typical WS deletion at 7q11.23, was found to have a de novo 1.7 Mb deletion in the 17q12 region on microarray comparative genomic hybridization. The co-twin was selectively terminated at 23 wk of gestation after being diagnosed with bilateral multicystic dysplastic kidneys and anhydramnios. Review of the literature shows that deletion of chromosome 17q12, encompassing hepatocyte nuclear factor 1beta gene, is associated with cystic renal disease and is the first recurrent genomic deletion associated with maturity onset diabetes of the young. In addition, reports of female reproductive tract malformations and patients with neurocognitive or psychiatric phenotypes have recently been described. This review of the literature summarizes 47 other cases involving 17q12 deletions with wide variability in phenotype, possibly suggesting a contiguous gene syndrome. It is likely that the additional 17q12 deletion has played a role in modifying the phenotype in our patient. This case highlights the importance of using array comparative genomic hybridization in the clinical setting to uncover the etiology of atypical findings in individuals with known microdeletion syndromes.

Gorlin-Goltz Syndrome: Case report and literature review.

Science.gov (United States)

Ramesh, Maya; Krishnan, Ramesh; Chalakkal, Paul; Paul, George

2015-01-01

Gorlin-Goltz syndrome (GGS) is an infrequent multisystemic disease with an autosomal dominant trait, with complete penetrance and variable expressivity, though sporadic cases have been described. This article includes a case report and an extensive review of the GGS with regard to its history, incidence, etiology, features, investigations, diagnostic criteria, keratocystic odontogenic tumor and treatment modalities.

3-M syndrome: description of six new patients with review of the literature.

NARCIS (Netherlands)

Wal, G. van der; Otten, B.J.; Brunner, H.G.; Burgt, C.J.A.M. van der

2001-01-01

3-M syndrome combines pre- and postnatal growth retardation and dysmorphic facial features with autosomal recessive inheritance. Six new patients with 3-M syndrome are described and compared with 28 cases from the literature. Our six patients have a growth pattern, which parallels that of

Dysfunction in the hip joints in children with Charcot-Marie-Tooth syndrome (literature review

Directory of Open Access Journals (Sweden)

Ivan Yurievich Pozdnikin

2015-09-01

Full Text Available A review of the literature on the treatment of children with dysfunction in the hip joints in motor-sensory neuropathy Charcot-Marie-Tooth is presented. Peculiarities of disease diagnosis and the approach used in the treatment of patients are described. The Charcot-Marie-Tooth syndrome is a hereditary neuromuscular disease characterized by progressive atrophy of the distal muscle group of the lower limbs. According to international authors, the incidence of hip joint dysfunction in this condition is at least 10%, ranking second only to foot deformities. In the Russian literature, the problem has not been adequately interpreted. Early diagnosis of dysfunction in the hip joints during Charcot-Marie-Tooth syndrome is complicated by the child's age and is characterized by progression. Conflicting clinical signs and trivial symptoms of the disease also confuse diagnosis, until it becomes clearer in adolescence or the second or third decade of life. Surgical reconstructive operations on the hip joint often occur too late, and they are accompanied by a greater frequency of neurological complications. Practitioner awareness coupled with an early diagnosis of hip subluxation and decentration and complex orthopedic and neurological examinations of children with the disease of Charcot-Marie-Tooth should result in more favorable outcomes.

The 7q11.23 Microduplication Syndrome: A Clinical Report with Review of Literature

Science.gov (United States)

Abbas, Elham; Cox, Devin M.; Smith, Teri; Butler, Merlin G.

2016-01-01

We report a 14-year-old adolescent girl with selective mutism (SM) and a 7q11.23 microduplication detected by chromosomal microarray (CMA) analysis and reviewed the literature from 18 published clinical reports. Our patient had specific phobias, SM, extreme anxiety, obesity, cutis marmorata, and a round appearing face with a short neck and over folded ears. We reviewed the published clinical, cognitive, behavioral, and cytogenetic findings grouped by speech and language delay, growth and development, craniofacial, clinical, and behavior and cognitive features due to the 7q11.23 microduplication. This microduplication syndrome is characterized by speech delay (91%), social anxiety (42%), attention deficit hyperactivity disorder (ADHD, 37%), autism spectrum disorder (29%), and separation anxiety (13%). Other findings include abnormal brain imaging (80%), congenital heart and vascular defects (54%), and mild intellectual disability (38%). We then compared the phenotype with Williams–Beuren syndrome (WBS) which is due to a deletion of the same chromosome region. Both syndromes have abnormal brain imaging, hypotonia, delayed motor development, joint laxity, mild intellectual disability, ADHD, autism, and poor visuospatial skills but opposite or dissimilar findings regarding speech and behavioral patterns, cardiovascular problems, and social interaction. Those with WBS are prone to have hyperverbal speech, lack of stranger anxiety, and supravalvular aortic stenosis while those with the 7q11.23 microduplication have speech delay, SM, social anxiety, and are prone to aortic dilatation. PMID:27617154

[Delusional misidentification syndromes: A factor associated with violence? Literature review of case reports].

Science.gov (United States)

Horn, M; Pins, D; Vaiva, G; Thomas, P; Fovet, T; Amad, A

2018-03-23

Delusional misidentification syndromes (DMS) correspond to the delusional belief of misidentification of familiar persons, places or objects and to the conviction that they have been replaced or transformed. Several cases of patients who developed violent behavior while suffering from DMS have been published. This led some authors to consider patients with DMS at risk of violence. However, only a few studies have focused on the potential relationship between violence and DMS. The aim of our study was to explore this relationship with a literature review of published cases of patients having committed violent acts associated to DMS. A systematic literature search was conducted on PubMed up to January 2017 using the following term combination "misidentification" and "violence" Fifteen cases of patients with DMS who had committed violent acts were identified. The data from these descriptions were analyzed and synthetized. Most of the patients were men with a diagnosis of schizophrenia and Capgras syndrome. Acts of violence were severe with a relatively high number of murders or attempted murders. For half of the patients these violent acts were perpetrated with weapons. Victims were regularly the patient's family members and the assaults were usually not planned. Delusional syndromes often progressed for several years. Importantly, substance abuse, which is known to increase the risk of violence in patients with schizophrenia, was only observed in two patients. DMS are associated with several risk factors of violence, such as a diagnosis of schizophrenia, specific delusions including megalomania, persecution, negative affects and identified targets. Despite this risk for severe violence, there are no existing guidelines on how to assess and treat DMS in schizophrenia. Accordingly, we propose (1) the establishment of formal diagnostic criteria, (2) the development of rigorous research on these syndromes and (3) the integration of DMS in assessment of violence risk in

Oral findings in Rett syndrome: a systematic review of the dental literature.

Science.gov (United States)

Fuertes-González, María-Cristina; Silvestre, Francisco-Javier; Almerich-Silla, José-Manuel

2011-01-01

Rett syndrome (RS) is a chromosome X-linked genetic neurological disorder characterized by developmental regression, particularly in relation to expressive language and use of the hands, together with profound mental retardation, that almost exclusively affects females. The present review describes the 35 cases of RS published in the indexed literature (Medline)--the first corresponding to 1985 and the last to the year 2007. Certain oral manifestations of the disease are derived from the drug treatment prescribed to control the disease, while others are common to other clinical conditions characterized by convulsion activity, difficulties for correct oral hygiene, walking problems and/or an excess of oral/digital-manual habits. In any case, bruxism is the oral habit most frequently associated with RS--the treatment of which remains the subject of controversy.

Syndromic odontogenic keratocyst: A case report and review of literature

Science.gov (United States)

Arshad, Fazil

2016-01-01

Odontogenic keratocysts (OKCs) may occur in two different forms, either as solitary (nonsyndromic OKCs) or as multiple OKCs (syndromic OKCs). Multiple OKCs usually occur as one of the findings in Gorlin–Goltz syndrome with other features such as skin carcinomas and rib, eye, and neurologic abnormalities. We report a rare case of Gorlin–Goltz syndrome in a 20-year-old male patient who presented with a slow growing swelling on lower right and left back teeth region since 2 months. Apart from these, other findings were frontal bossing, depressed nasal bridge, ocular hypertelorism, prominent supra orbital ridge, and mild mandibular prognathism. Excision was done and microscopic study revealed OKC and the follow-up could not be carried out for the complete management. We also presented a review of its pathogenesis, criterion, and differences between syndromic and nonsyndromic OKCs and suggest to thoroughly examine any patient who presents with multiple OKCs to rule out syndromic variety. PMID:27011939

Rendu-Osler-Weber syndrome: what radiologists should know. Literature review and three cases report

International Nuclear Information System (INIS)

Agnollitto, Paulo Moraes; Barreto, Andre Rodrigues Facanha; Barbieri, Raul Fernando Pinsetta; Junior, Jorge Elias; Muglia, Valdair Francisco

2013-01-01

Rendu-Osler-Weber syndrome or hereditary hemorrhagic telangiectasia is an autosomal dominant vascular disease involving multiple systems whose main pathological change is the presence of abnormal arteriovenous communications. Most common symptoms include skin and mucosal telangiectasias, epistaxis, gastrointestinal, pulmonary and intracerebral bleeding. The key imaging finding is the presence of visceral arteriovenous malformations. The diagnosis is based on clinical criteria and can be confirmed by molecular biology techniques. Treatment includes measures for management of epistaxis, as well as surgical excision, radiotherapy and embolization of arteriovenous malformations, with emphasis on endovascular treatment. The present pictorial essay includes a report of three typical cases of this entity and a literature review. (author)

Childhood subdural hemorrhage, macrocephaly, and coagulopathy associated with Prader-Willi syndrome: case report and review of the literature.

Science.gov (United States)

Carr, Robert B; Khanna, Paritosh C; Saneto, Russell P

2012-07-01

A 16-month-old girl with a history of Prader-Willi syndrome and progressive macrocephaly manifested large, bilateral, subdural hemorrhages of differing ages on magnetic resonance imaging. Subsequent evaluation revealed a deficiency of von Willebrand factor, but after repeated evaluations, no conclusive evidence of nonaccidental trauma became apparent. Subdural hemorrhages of varying ages are frequently associated with nonaccidental trauma during early childhood. However, several uncommon conditions may present as subdural hemorrhages and thus mimic nonaccidental trauma. Our patient demonstrates a combination of Prader-Willi syndrome, von Willebrand factor deficiency, and enlargement of the extra-axial spaces. All of these in isolation were associated with subdural hemorrhages. We review the scant literature on subdural hemorrhages in Prader-Willi syndrome and other conditions that mimic nonaccidental trauma. Copyright © 2012 Elsevier Inc. All rights reserved.

Bilateral post-traumatic gluteal compartment syndrome: A case report and review of literature

Directory of Open Access Journals (Sweden)

Devashis Barick

2015-01-01

Full Text Available Gluteal compartment is a rare site for compartment syndrome. Gluteal compartment syndrome has most commonly been described in the literature as occurring after prolonged immobility associated with substance abuse, improper operative positioning, sickle cell-induced infarct, post-traumatic and spontaneous superior gluteal artery rupture, exercise, and post-arterial embolization of the internal iliac artery prior to abdominal aortic aneurysm repair. Trauma is rarely associated with this syndrome. Gluteal compartment syndrome occurs in approximately 0.9% of trauma patients. Posttraumatic gluteal compartment syndrome develops because of edema with traumatic contusions, crush injuries and hematoma formation due to blunt superior or inferior gluteal artery injuries in all compartments of the gluteal region Only 6 previous cases have been reported in the literature. Two previous cases involved positioning for urological procedures, while the other cited causes of bilateral gluteal compartment syndrome include exercise-induced, trauma, and prolonged immobilization from substance abuse. One of the most immediately devastating results of a missed compartment syndrome is the risk of the development of rhabdomyolysis with the resulting squeal of myoglobinuria, hyperkalemia, and acidosis resulting in renal failure, shock, multiple organ failure, disseminated intravascular coagulation, and possibly death. Here we report a case of posttraumatic bilateral compartment syndrome which developed secondary to pressure due to patient being trapped under a vehicle following a vehicular accident. He was operated upon and a bilateral fasciotomy was done. Although he did not develop any renal complications, the sciatic nerve palsy on the left side did not recover. The patient is still under follow up.

Occupational Burnout Syndrome in the nursing context: an integrative literature review.

Science.gov (United States)

Medeiros-Costa, Mateus Estevam; Maciel, Regina Heloísa; Rêgo, Denise Pereira do; Lima, Lucimar Lucas de; Silva, Maria Eliziane Pinto da; Freitas, Julyana Gomes

2017-07-20

To characterize the scientific production on Burnout Syndrome in the Nursingcontext, systematizing the location where the studies were carried out, the related constructs, the employed methods and their main results. An integrative review of the literature with a bibliometric approach of articles published in Portuguese, Spanish and English between 2005 and 2016. 106 articles wereincluded. Mostinvolvedprevalence, and were descriptive, quantitative studies performed in hospitals.The Southeastern and Southern regions of Brazil had the largest number of publications, and stress was the construct most related to burnout.Most of the studies used the Maslach Burnout Inventory to investigate the presence of the syndrome. New case-control and cohort studies should be carried out.Qualitative-exploratory studies are necessary to better understand Burnout Syndrome among nursing professionals usingfocus groups or interviews, as well as comparative causal studies, with the purpose of exploring the syndrome'smanifestations. Caracterizar a produção científica sobre a Síndrome do Esgotamento Profissionalno contexto da enfermagem, sistematizando os locais onde as pesquisas foram realizadas, os construtos relacionados, os métodos empregados e seus principais resultados. Revisão integrativa da literatura, com abordagem bibliométrica, em artigos na língua portuguesa, espanhola e inglesa publicados entre 2005 e 2016. Foram selecionados 106 artigos.A maioria estudos de prevalência, descritivos, quantitativos e realizados em hospitais. Nas regiões Sudeste e Sul do Brasil encontram-se o maior número de publicações, sendo o estresse o construto mais relacionado com o esgotamento profissional. A maior parte dos estudos utilizou o Maslach Burnout Inventory como meio de averiguação da presença da síndrome. Novos estudos de caso controle e coorte devem ser realizados. Pesquisas de cunho qualitativo-exploratório são necessárias para poder compreender melhor a Síndrome do

Visceroptosis of the Bowel in the Hypermobility type of Ehlers-Danlos Syndrome: Presentation of a Rare Manifestation and Review of the Literature

Science.gov (United States)

Reinstein, Eyal; Pimentel, Mark; Pariani, Mitchel; Nemec, Stephen; Sokol, Thomas; Rimoin, David L

2012-01-01

Gastrointestinal complications are common in patients with Ehlers-Danlos Syndrome, affecting up to 50% of individuals depending on the subtype. The spectrum of gastrointestinal manifestations is broad and ranges from life threatening spontaneous perforation of the visceral organs to a more benign functional symptoms. Here we describe the clinical and radiographic manifestations of visceroptosis of the bowel, a rare complication of Ehlers-Danlos Syndrome that is characterized by prolapse of abdominal organs below their natural position. We further review the literature on gastrointestinal complications in the different forms of Ehlers-Danlos Syndrome. PMID:22781752

[Tics and Tourette syndrome in literature, cinema and television].

Science.gov (United States)

Collado-Vázquez, Susana; Carrillo, Jesús M

2013-08-01

Different neurological diseases have often been portrayed in literature, cinema and television. Tics and Tourette syndrome, for example, are commonly represented from different perspectives, which are sometimes very realistic but in some cases are used for more dramatic purposes or to make a character look ridiculous. One of the main effects of these inadequate views is to further stigmatise those who suffer these movement disorders. To review the way tics and Tourette syndrome have been portrayed in certain literary works, films and television. Tics are rapid, stereotypic, involuntary, recurring, non-purposeful movements of the skeletal and pharyngeal-laryngeal muscles. In Gilles de la Tourette syndrome a number of tics are associated to involuntary vocalisations (echolalia, coprolalia). They begin in childhood and are usually associated to obsessive-compulsive behaviours. These disorders have appeared in literature in works such as Little Dorrit, Angel Guerra, La torre de los siete jorobados or Motherless Brooklyn. Film-makers have also shown an interest in tics and Tourette syndrome and they have been portrayed in films such as Young and Innocent, The Tic Code or Matchstick Men. Likewise, a number of television series also contain characters with these disorders, including Shameless, Ally McBeal, Quincy, M.E. or L.A. Law. Tics and Tourette syndrome have frequently been portrayed in literature, cinema and television, sometimes in a very realistic manner. In other cases, however, the way they are dealt with has only helped to create false beliefs and stereotyped images of the disorders.

Prenatal diagnosis of prune-belly syndrome at 13 weeks of gestation: case report and review of literature.

Science.gov (United States)

Papantoniou, Nikolaos; Papoutsis, Dimitrios; Daskalakis, Georgios; Chatzipapas, Ioannis; Sindos, Michael; Papaspyrou, Irini; Mesogitis, Spiridon; Antsaklis, Aris

2010-10-01

We present a case report of a foetus with Prune-Belly syndrome (PBS) which was diagnosed sonographically during the 13th week of gestation and review of the literature. Sonographic diagnosis was based on abnormally distended urinary bladder and abdomen and absence of 'keyhole sign'. Termination was performed on parental request and post-mortem examination revealed absence of abdominal wall musculature and the distended urinary bladder in a male foetus. Prenatal diagnosis of PBS is based on ultrasound and is usually diagnosed in the second trimester. In the first trimester there are very few reports to date. Prognosis and possible treatment options are herein discussed as well as the underlying mechanisms that may explain the clinical presentation of the syndrome.

Rendu-Osler-Weber syndrome: what radiologists should know. Literature review and three cases report

Directory of Open Access Journals (Sweden)

Paulo Moraes Agnollitto

2013-06-01

Full Text Available Rendu-Osler-Weber syndrome or hereditary hemorrhagic telangiectasia is an autosomal dominant vascular disease involving multiple systems whose main pathological change is the presence of abnormal arteriovenous communications. Most common symptoms include skin and mucosal telangiectasias, epistaxis, gastrointestinal, pulmonary and intracerebral bleeding. The key imaging finding is the presence of visceral arteriovenous malformations. The diagnosis is based on clinical criteria and can be confirmed by molecular biology techniques. Treatment includes measures for management of epistaxis, as well as surgical excision, radiotherapy and embolization of arteriovenous malformations, with emphasis on endovascular treatment. The present pictorial essay includes a report of three typical cases of this entity and a literature review.

Deafness and Mondini dysplasia in Kabuki (Niikawa-Kuroki) syndrome. Report of a case and review of the literature.

Science.gov (United States)

Toutain, A; Plée, Y; Ployet, M J; Benoit, S; Perrot, A; Sembely, C; Barthez, M A; Moraine, C

1997-01-01

Report of a case and review of the literature: We report the case of a seven-year-old female kabuki patient suffering from severe bilateral deafness related to Mondini dysplasia and ossicular anomalies. A review of the literature in English confirms that hearing loss is a major component of Kabuki Syndrome (KS) with a frequency at around 32%. However the possible mechanisms have not been fully described and hearing loss is often attributed to otitis media, but one reported case had severe ossicular malformations, two had sensorineural deafness and three others had mixed deafness. Our observation is the first reported case of Mondini dysplasia in KS. Awareness by physicians of this problem has a major practical consequence as diagnosis of Mondini dysplasia implies searching for and surgical prevention and treatment of perilymphatic fistula in order to prevent meningitis.

A literature review of role of obesity in adult health with reference to ...

African Journals Online (AJOL)

Although obesity is a global epidemic that affects every socio-economic class, little is available in the literature on the status of the syndrome in Africa. This literature review was therefore written in order to highlight the causes, effects and potential mitigation measures of the syndrome with particular interest on the status of ...

Dual paraneoplastic syndromes: small cell lung carcinoma-related oncogenic osteomalacia, and syndrome of inappropriate antidiuretic hormone secretion: report of a case and review of the literature.

Science.gov (United States)

Tantisattamo, Ekamol; Ng, Roland C K

2011-07-01

Acquired isolated renal phosphate wasting associated with a tumor, known as oncogenic osteomalacia or tumor-induced osteomalacia, is a rare paraneoplastic syndrome caused by overproduction of fibroblast growth factor 23. Oncogenic osteomalacia is usually associated with benign mesenchymal tumors. Syndrome of inappropriate antidiuretic hormone secretion (SIADH), on the other hand, is a common paraneoplastic syndrome caused by small cell carcinoma (SCC). Concomitant oncogenic osteomalacia and SIADH associated with SCC is very rare with only 4 other cases reported in the literature. The authors report a case of small cell lung cancer (SCLC)-related renal wasting hypophosphatemia and concurrent SIADH, and review the literature reporting 9 other cases of SCC associated with oncogenic osteomalacia. Almost half of reported cases of renal phosphate wasting associated with SCC concomitantly presented with SIADH. These cases had initial serum phosphorus level lower and survival periods shorter than those without SIADH. This rare combination of a dual paraneoplastic syndrome and low serum phosphorus may be a poor prognostic sign. In addition, both renal phosphate wasting and SIADH usually occur in a short period of time before identification of SCC. Therefore, renal wasting hypophosphatemia with concomitant SIADH/hyponatremia should prompt a search for SCC rather than a benign mesenchymal tumor.

[Rapidly progressive puberty in a patient with mosaic Turner syndrome: a case report and literature review].

Science.gov (United States)

Liang, Y; Wei, H; Yu, X; Huang, W; Luo, X P

2017-02-02

Objective: To explore the clinical characteristics of diagnosis and treatment in patients with Turner syndrome and rapidly progressive puberty. Method: A rare case of rapidly progressive puberty in Turner syndrome with a mosaic karyotype of 45, X/46, X, del(X)(p21)(80%/20%)was diagnosed at Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology in January. 2015. Clinical characteristics and the related literature were reviewed. Original papers on precocious puberty or rapidly progressive puberty in Turner syndrome, published until Apr. 2016 were retrieved at PubMed and CNKI databases by the use of the key words "Turner syndrome" , "precocious puberty" and "rapidly progressive puberty" . Result: The patient was born at term with birth weight of 2 450 g and was diagnosed with SGA at 3 years of age for the first evaluating of growth and development. Then recombined human growth hormone (rhGH )was given at 4 years of age due to short stature (heightTurner syndrome is reported. Although short stature and ovarian dysgenesis are common in TS, precocious puberty may occur in TS, which is liable to cause delayed diagnosis and misdiagnosis. Careful examination is recommended for patients with unusual growth pattern, even though girls have normal height in accord with standard growth curve or spontaneous puberty. Evaluation for TS and subsequent investigation should be prompted.

Psychological aspects of juvenile fibromyalgia syndrome: a literature review.

Science.gov (United States)

Goulart, Rubens; Pessoa, Cinthia; Lombardi, Império

2016-01-01

Juvenile fibromyalgia syndrome (JFMS) is a non-inflammatory chronic pain condition that occurs mainly in girls aged 9-15 years. JFMS is characterized by constant widespread pain in different parts of the body, poor sleep quality, daytime sleepiness and an altered mood. Concomitant psychological and organic factors result in a diminished capacity to cope with pain. The quality of life of individuals with chronic pain and their caregivers is severely restricted and the occurrence of symptoms of anxiety and depression is common in this population. The aim of the present study was to perform a systematic review of the literature on psychosocial factors related to JFMS. The findings reveal differences in opinion between patients and family members regarding the effect of the condition, as mothers tend to classify JFMS as more severe than the patients themselves. Individuals with JFMS seem to share the same personality traits and there seems to be a type of family environment that is favorable to the occurrence of this condition. Psychological and functional aspects should be treated with methods that can help patients and family members alter their coping strategies regarding day-to-day problems, attenuate the dysfunctional consequences of pain and fatigue and diminish the risk of catastrophizing that individuals submitted to constant pain develop in relation to their surrounding environment. Copyright © 2015 Elsevier Editora Ltda. All rights reserved.

Iatrogenic Cushing syndrome in patients receiving inhaled budesonide and itraconazole or ritonavir: two cases and literature review.

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Blondin, Marie-Christine; Beauregard, Hugues; Serri, Omar

2013-01-01

To present two cases of iatrogenic Cushing syndrome caused by the interaction of budesonide, an inhaled glucocorticoid, with ritonavir and itraconazole. We present the clinical and biochemical data of two patients in whom diagnosis of Cushing syndrome was caused by this interaction. We also reviewed the pertinent literature and management options. A 71-year-old man was treated with inhaled budesonide for a chronic obstructive pulmonary disease and itraconazole for a pulmonary aspergillosis. The patient rapidly developed a typical Cushing syndrome complicated by bilateral avascular necrosis of the femoral heads. Serum 8:00 AM cortisol concentrations were suppressed at 0.76 and 0.83 μg/dL on two occasions. The patient died 4 days later of a massive myocardial infarction. The second case is a 46-year-old woman who was treated for several years with inhaled budesonide for asthma. She was put on ritonavir, a retroviral protease inhibitor, for the treatment of human immunodeficiency virus (HIV). In the following months, she developed typical signs of Cushing syndrome. Her morning serum cortisol concentration was 1.92 μg/dL. A cosyntropin stimulation test showed values of serum cortisol of Cushing syndrome and secondary adrenal insufficiency due to the association of inhaled corticosteroids with itraconazole or ritonavir.

Vitamin D Content and the State of Bone Metabolism in Patients with Syndrome of Hyperthyroidism (Review of Literature

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І.V. Pankiv

2016-10-01

Full Text Available The literature review presents data of researches on the content of vitamin D and the state of bone metabolism in patients with syndrome of hyperthyroidism. Overt hyperthyroidism is associated with accelerated bone remodeling, reduced bone density, osteoporosis, and an increase in fracture rate. Summarizing the results of the studies conducted by different authors, there should be noted the value of normal balance of thyroid hormones for a skeletogeny and providing bone mineral density.

Combined Endoscopic and Laparoscopic Management of Postcholecystectomy Mirizzi Syndrome from a Remnant Cystic Duct Stone: Case Report and Review of the Literature

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Arpit Amin

2016-01-01

Full Text Available Mirizzi syndrome has been defined in the literature as common bile duct obstruction resulting from calculi within Hartmann’s pouch or cystic duct. We present a case of a 78-year-old female, who developed postcholecystectomy Mirizzi syndrome from a remnant cystic duct stone. Diagnosis of postcholecystectomy Mirizzi syndrome was made on endoscopic retrograde cholangiography (ERCP performed postoperatively. The patient was treated with a novel strategy by combining advanced endoscopic and laparoscopic techniques in three stages as follows: Stage 1 (initial presentation: endoscopic sphincterotomy with common bile duct stent placement; Stage 2 (6 weeks after Stage 1: laparoscopic ultrasonography to locate the remnant cystic duct calculi followed by laparoscopic retrieval of the calculi and intracorporeal closure of cystic duct stump; Stage 3 (6 weeks after Stage 2: endoscopic removal of common bile duct stent along with performance of completion endoscopic retrograde cholangiogram. In addition, we have performed an extensive review of the various endoscopic and laparoscopic management techniques described in the literature for the treatment of postcholecystectomy syndrome occurring from retained cystic duct stones.

Combined Endoscopic and Laparoscopic Management of Postcholecystectomy Mirizzi Syndrome from a Remnant Cystic Duct Stone: Case Report and Review of the Literature.

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Amin, Arpit; Zhurov, Yuriy; Ibrahim, George; Maffei, Anthony; Giannone, Jonathan; Cerabona, Thomas; Kaul, Ashutosh

2016-01-01

Mirizzi syndrome has been defined in the literature as common bile duct obstruction resulting from calculi within Hartmann's pouch or cystic duct. We present a case of a 78-year-old female, who developed postcholecystectomy Mirizzi syndrome from a remnant cystic duct stone. Diagnosis of postcholecystectomy Mirizzi syndrome was made on endoscopic retrograde cholangiography (ERCP) performed postoperatively. The patient was treated with a novel strategy by combining advanced endoscopic and laparoscopic techniques in three stages as follows: Stage 1 (initial presentation): endoscopic sphincterotomy with common bile duct stent placement; Stage 2 (6 weeks after Stage 1): laparoscopic ultrasonography to locate the remnant cystic duct calculi followed by laparoscopic retrieval of the calculi and intracorporeal closure of cystic duct stump; Stage 3 (6 weeks after Stage 2): endoscopic removal of common bile duct stent along with performance of completion endoscopic retrograde cholangiogram. In addition, we have performed an extensive review of the various endoscopic and laparoscopic management techniques described in the literature for the treatment of postcholecystectomy syndrome occurring from retained cystic duct stones.

Costello Syndrome and Umbilical Ligament Rhabdomyosarcoma in Two Pediatric Patients: Case Reports and Review of the Literature

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Carlos Sánchez-Montenegro

2017-01-01

Full Text Available Costello syndrome is caused by heterozygous de novo missense mutations in the protooncogene HRAS with tumor predisposition, especially rhabdomyosarcoma. We here report two pediatric patients with Costello syndrome and umbilical ligament rhabdomyosarcoma. A review of the literature published in English in MEDLINE from January 1971 to June 2016 using the search terms “Costello syndrome” and “rhabdomyosarcoma” was performed, including two new cases that we describe. Twenty-six patients with Costello syndrome and rhabdomyosarcoma were recorded with mean age of diagnosis of 2 years and 8 months. The most common tumor location was the abdomen/pelvis, including four out of ten of those in the umbilical ligament. The most common histological subtype was embryonal rhabdomyosarcoma. Overall survival was 43%. A total of 17 rhabdomyosarcomas in pediatric patients arising in the umbilical ligament were recorded with mean age of diagnosis of 3 years and 4 months. Overall survival was 69%. Costello syndrome is a poorly known disorder in pediatric oncology but their predisposition to malignancies implies the need for a new perspective on early diagnosis and aggressive medical and surgical treatment.

A newborn with very rare von Voss-Cherstvoy syndrome and literature review

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Sharma D

2016-07-01

Full Text Available Deepak Sharma,1 Basudev Gupta,2 Sweta Shastri,3 Pradeep Sharma4 1Department of Pediatrics, Pt. Bhagwat Dayal Sharma Post Graduate Institute of Medical Sciences, Rohtak, 2Department of Pediatrics, Civil Hospital, Palwal, Haryana, 3Department of Pathology, N.K.P. Salve Medical College, Nagpur, Maharashtra, 4Department of Medicine, Mahatma Gandhi Medical College and Research Institute, Jaipur, Rajasthan, India Introduction: von Voss-Cherstvoy syndrome is a part of a group of syndromes with radial and hematologic abnormalities, and until now approximately ten cases have been reported in the literature. This syndrome is characterized by a triad of radial ray defects, occipital encephalocele, and urogenital abnormalities.Case presentation: We report a neonate from Indian ethnicity who was diagnosed with von Voss-Cherstvoy syndrome. The neonate had radial ray defect, occipital encephalocele, tetralogy of Fallot, and bilateral agenesis of kidney, ureter, and bladder. The neonate was suspected to have von Voss-Cherstvoy syndrome on the basis of clinical features, which was further confirmed by fibroblast analysis showing somatic mosaicism for del(13q.Conclusion: von Voss-Cherstvoy syndrome is a very rare syndrome that can be suspected on the basis of typical clinical features and confirmed by fibroblast analysis showing somatic mosaicism for del(13q. This adds a second case of this chromosome anomaly described in this syndrome. Keywords: von Voss-Cherstvoy syndrome, radial ray defects, occipital encephalocele, urogenital abnormalities, somatic mosaicism for del(13q

The nasogastric tube syndrome: two case reports and review of the literature.

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Apostolakis, L W; Funk, G F; Urdaneta, L F; McCulloch, T M; Jeyapalan, M M

2001-01-01

The nasogastric tube syndrome is a potentially life-threatening complication of an indwelling nasogastric (NG) tube. The syndrome is thought to result from ulceration and infection of the posterior cricoid region with subsequent dysfunction of vocal cord abduction. This dysfunction may present as complete loss of vocal cord abduction manifested as serious airway compromise. Reports of this syndrome are infrequent, with only 29 cases published to date. Two additional cases of nasogastric tube syndrome diagnosed at the University of Iowa Hospitals and Clinics over a 2-year period are presented. A search of MEDLINE (1966 through February 1999), including review of those articles' references identified seven previous publications, including 29 case reports. These 29 cases are reviewed and the findings summarized. Twenty-nine cases of NG tube syndrome are identified, with 16 of these occurring in the preantibiotic period. Including the two cases presented here, 15 contemporary patients are examined. Among these 15 cases, 10 required tracheostomy, on average 8.5 days after NG tube placement. Although the fully manifested syndrome presents quite dramatically, we suspect that a clinical spectrum of severity exists with less severe cases going unrecognized. Consistent with previous reports, we found that direct visualization of the postcricoid region is required to rule out the diagnosis and recommend such action be taken whenever the diagnosis is suspected. Treatment should include establishment of a safe airway, removal of the tube whenever possible, antibiotic therapy, and antireflux therapy.

Vascular Ehlers-Danlos Syndrome Presenting as a Pulsatile Neck Mass: a Case Report and Review of Literature.

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Maraj, Bharat; Harding-Theobald, Emily; Karaki, Fatima

2018-04-26

Ehlers-Danlos syndrome refers to a spectrum of connective tissue disorders typically caused by mutations in genes responsible for the synthesis of collagen. Patients with Ehlers-Danlos syndrome often exhibit hyperflexibility of joints, increased skin elasticity, and tissue fragility. Vascular Ehlers-Danlos (vEDS) is a subtype of Ehlers-Danlos syndrome with a predilection to involve blood vessels. As such, it often manifests as vascular aneurysms and vessel rupture leading to hemorrhage. There are few reports describing primary prevention of aneurysms in the setting of undiagnosed, suspected vEDS. We present a case of a 30-year-old woman who presents with a pulsatile neck mass found to have multiple arterial aneurysms on imaging, hyperflexibility, and characteristic facial features consistent with vEDS. As described in this case, management of a suspected connective tissue disorder is a multidisciplinary approach including vascular surgery, medical therapy, and genetic testing to confirm the diagnosis. We review literature regarding the care of patients with vascular Ehlers-Danlos as it might pertain to hospitalized patients.

The Roberts syndrome/SC phocomelia spectrum--a case report of an adult with review of the literature.

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Goh, Elaine Suk-Ying; Li, Chumei; Horsburgh, Sheri; Kasai, Yumi; Kolomietz, Elena; Morel, Chantal France

2010-02-01

Roberts syndrome (RBS) (OMIM #268300) is a rare autosomal recessive disorder characterized by tetraphocomelia (symmetrical limb reduction), craniofacial anomalies, growth retardation, mental retardation, cardiac and renal abnormalities. The syndrome is caused by mutations in the ESCO2 (establishment of cohesion 1 homolog 2) (Entrez 609353) gene, which is located at 8p21.1, and encodes a protein essential in establishing sister chromatid cohesion during S phase. SC phocomelia (SC) (OMIM #269000), has less severe symmetric limb reduction, flexion contractures of various joints, minor facial anomalies, growth retardation and occasionally, mental retardation. These two syndromes can be considered part of a spectrum, with RBS at the most severe range in which severely affected infants may be stillborn or die in the post-natal period, while individuals with SC phocomelia represent the milder end of the spectrum and typically survive to adulthood. In both presentations, karyotype investigations characteristically reveal premature centromere separation (PCS), otherwise known as heterochromatin repulsion or puffing. There is little literature about the follow-up of adults with the spectrum of RBS/SC phocomelia or their recommended management. We report on an adult presentation of RBS/SC phocomelia spectrum disorder with a history of major cardiac malformation in childhood, normal limbs on physical examination, mild facial anomalies, mild learning difficulties, and PCS. Molecular studies of ESCO2 have confirmed the diagnosis. A literature review, focussing on adult manifestations of this condition and a discussion of follow-up guidelines are presented. Copyright 2010 Wiley-Liss, Inc.

Psychotropic treatments in Prader-Willi syndrome: a critical review of published literature.

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Bonnot, O; Cohen, D; Thuilleaux, D; Consoli, A; Cabal, S; Tauber, M

2016-01-01

Prader-Willi syndrome (PWS) is a rare genetic syndrome. The phenotype includes moderate to intellectual disability, dysmorphia, obesity, and behavioral disturbances (e.g., hetero and self-injurious behaviors, hyperphagia, psychosis). Psychotropic medications are widely prescribed in PWS for symptomatic control. We conducted a systematic review of published literature to examine psychotropic medications used in PWS. MEDLINE was searched to identify articles published between January 1967 and December 2014 using key words related to pharmacological treatments and PWS. Articles with original data were included based on a standardized four-step selection process. The identification of studies led to 241 records. All selected articles were evaluated for case descriptions (PWS and behavioral signs) and treatment (type, titration, efficiency, and side effects). Overall, 102 patients were included in these studies. Treatment involved risperidone (three reports, n = 11 patients), fluoxetine (five/n = 6), naltrexone (two/n = 2), topiramate (two/n = 16), fluvoxamine (one/n = 1), mazindol (one/n = 2), N-acetyl cysteine (one/n = 35), rimonabant (one/n = 15), and fenfluramine (one/n = 15). We identified promising treatment effects with topiramate for self-injury and impulsive/aggressive behaviors, risperidone for psychotic symptoms associated with uniparental disomy (UPD), and N-acetyl cysteine for skin picking. The pharmacological approach of behavioral impairment in PWS has been poorly investigated to date. Further randomized controlled studies are warranted. Behavioral disturbances in Prader-Willi syndrome including aggressive reactions, skin picking, and hyperphagia might be very difficult to manage. Antipsychotic drugs are widely prescribed, but weight gain and increased appetite are their major side effects. Topiramate might be efficient for self-injury and impulsive/aggressive behaviors, N-acetyl cysteine is apromising treatment for

Michelin tire baby syndrome: a review of the literature and a proposal for diagnostic criteria with adoption of the name circumferential skin folds syndrome.

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Rothman, Ilene L

2014-01-01

The term Michelin tire baby (MTB), named for the cartoon mascot of the Michelin Tire Company, has been used to describe babies with multiple symmetric circumferential rings of folded skin. In those reported with this phenotype who had skin biopsies, pathology has shown nevus lipomatosis, smooth muscle hamartoma, degenerative collagen, and scarring. Others did not undergo biopsy or had normal skin. Many individuals with the MTB phenotype have had a variety of other congenital anomalies. I review the literature on MTB and the history of the designation Michelin tire baby Syndrome (MTBS). Because the term MTBS has been poorly defined or not defined at all, I propose strict criteria for diagnosis. In doing so, it is recommended that the syndrome be renamed to avoid further confusion. © 2014 Wiley Periodicals, Inc.

Pregnancy-related acute aortic dissection in Marfan syndrome: A review of the literature.

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Smith, Katherine; Gros, Bernard

2017-05-01

A well-established association exists between acute aortic dissection and pregnancy, particularly in women with Marfan syndrome. However, there is debate regarding appropriate management guidelines. In particular, there are differing opinions regarding when prophylactic aortic root repair should be recommended as well as the efficacy of beta blockers in this clinical scenario. The current study evaluated 10 years of published literature (2005-2015) in the PubMed/Medline database. Fifty articles, describing 72 cases of women who presented with aortic dissection in the antepartum or postpartum period were identified. Comparisons on demographic variables and clinical outcomes between cases of women with Marfan syndrome (n = 36) and without Marfan syndrome (n = 36) were conducted. There were no significant differences in demographics (age, gravidity, parity) between the Marfan and non-Marfan cases. Marfan patients presented with antepartum dissections significantly earlier in pregnancy than those without Marfan syndrome (P = .002). However, there were no significant difference between the 2 groups in maternal mortality, fetal mortality, or obstetric outcomes (mode of delivery and gestational age at delivery). Eight cases described events in Marfan women with an aortic root diameter ≤40 mm. Six events occurred in Marfan women who were managed with beta blockers. Current guidelines rely on aortic root diameter for stratification of Marfan women into risk categories, but we identified several cases that would be missed by these guidelines. Specifically, the existing literature suggest that women with Marfan syndrome should take precautions throughout pregnancy, rather than the third trimester. © 2017 Wiley Periodicals, Inc.

Gorham-Stout syndrome of the spine. Case report and review of literature

International Nuclear Information System (INIS)

Floerchinger, A.; Boettger, E.; Claass-Boettger, F.; Harmes, J.

1998-01-01

Two female patients with Gorham-Stout syndrome (GSS) of the spine are described. One 25 year old patient developed progressive osteolysis of the upper cervical spine over a period of several years but despite gross extent of the disease had no neurological complications. Some bone implanted in order to stabilise the spine was absorbed after only a few weeks. A six year old girl with progressive osteolysis of the thoracic spine developed a reversible trans-section syndrome on several occasions. During an active episode, the spine was stabilised by a titanium implant. In both patients the condition arrested spontaneously. A review of the world literature (175 cases) has indicated that, including our two patients, there were only 15 patients with primary involvement of the spine and 27 patients with secondary involvement. The relatively good prognosis of the condition (mortality 13.3%), which often shows spontaneous arrest, becomes much worse if there is involvement of the spine or thorax because of neurological complications or a chylothorax. Involvement of the spine increases mortality to 33.3%, and to 52% if the thorax is involved. Early diagnosis and the institution of appropriate treatment is therefore essential. For involvement of the spine, a combination of radiotherapy and surgical stabilisation with a titanium implant should be performed since in nearly all patients bone transplants are reabsorbed. For this treatment the patient should be transferred to a neuro-orthopaedic centre. (orig.) [de

A case report and literature review of Churg-Strauss syndrome presenting with myocarditis.

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Qiao, Lu; Gao, Dengfeng

2016-12-01

Churg-Strauss syndrome (CSS) is a multisystem disorder characterized by asthma, prominent peripheral blood eosinophilia, and vasculitis signs. Here we report a case of CSS presenting with acute myocarditis and heart failure and review the literature on CSS with cardiac involvement. A 59-year-old man with general fatigue, numbness of limbs, and a 2-year history of asthma was admitted to the department of orthopedics. Eosinophilia, history of asthma, lung infiltrates, peripheral neurological damage, and myocarditis suggested the diagnosis of CSS. Transthoracic echocardiography revealed a dilated hypokinetic left ventricle (left ventricular ejection fraction ∼40%) with mild segmental abnormalities in the septal and apical segments. By reviewing the present case reports, we concluded that (1) the younger age of CSS, the greater occurrence rate of complicating myocarditis and the poorer prognosis; (2) female CSS patients are older than male patients; (3) patients with cardiac involvement usually have a history of severe asthma; (4) markedly increased eosinophil count suggests a potential diagnosis of CSS (when the count increases to 20% of white blood cell counts or 8.1 × 109/L, eosinophils start to infiltrate into myocardium); and (5) negative ANCA status is associated with heart disease in CSS.

Unmet clinical needs and burden in Angelman syndrome: a review of the literature.

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Wheeler, Anne C; Sacco, Patricia; Cabo, Raquel

2017-10-16

Angelman syndrome (AS) is a rare disorder with a relatively well-defined phenotype. Despite this, very little is known regarding the unmet clinical needs and burden of this condition, especially with regard to some of the most prevalent clinical features-movement disorders, communication impairments, behavior, and sleep. A targeted literature review using electronic medical databases (e.g., PubMed) was conducted to identify recent studies focused on specific areas of the AS phenotype (motor, communication, behavior, sleep) as well as epidemiology, diagnostic processes, treatment, and burden. 142 articles were reviewed and summarized. Findings suggest significant impairment across the life span in all areas of function. While some issues may resolve as individuals get older (e.g., hyperactivity), others become worse (e.g., movement disorders, aggression, anxiety). There are no treatments focused on the underlying etiology, and the symptom-based therapies currently prescribed do not have much, if any, empirical support. The lack of standardized treatment protocols or approved therapies, combined with the severity of the condition, results in high unmet clinical needs in the areas of motor functioning, communication, behavior, and sleep for individuals with AS and their families.

Marfan's syndrome: case report and literature review | Atipo-Tsiba ...

African Journals Online (AJOL)

hyperlaxity, arachnodactyly, scoliosis, dolichostenomelia) and cardiovascular system (aortic pathology). The severity of this disease is related to its cardiovascular damage. We proposed to carry out a review of the literature from the first case ...

Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature.

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Addissie, Yonit A; Kotecha, Udhaya; Hart, Rachel A; Martinez, Ariel F; Kruszka, Paul; Muenke, Maximilian

2015-11-01

Noonan syndrome (NS) is a multiple congenital anomaly syndrome caused by germline mutations in genes coding for components of the Ras-mitogen-activated protein kinase (RAS-MAPK) pathway. Features include short stature, characteristic facies, congenital heart anomalies, and developmental delay. While there is considerable clinical heterogeneity in NS, craniosynostosis is not a common feature of the condition. Here, we report on a 2 month-old girl with Noonan syndrome associated with a de novo mutation in KRAS (p.P34Q) and premature closure of the sagittal suture. We provide a review of the literature of germline KRAS mutations and find that approximately 10% of published cases have craniosynostosis. Our findings expand on the NS phenotype and suggest that germline mutations in the KRAS gene are causally involved in craniosynostosis, supporting the role of the RAS-MAPK pathway as a mediator of aberrant bone growth in cranial sutures. The inclusion of craniosynostosis as a possible phenotype in KRAS-associated Noonan Syndrome has implications in the differential diagnosis and surgical management of individuals with craniosynostosis. © 2015 Wiley Periodicals, Inc.

Klinefelter syndrome, insulin resistance, metabolic syndrome, and diabetes: review of literature and clinical perspectives.

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Salzano, Andrea; D'Assante, Roberta; Heaney, Liam M; Monaco, Federica; Rengo, Giuseppe; Valente, Pietro; Pasquali, Daniela; Bossone, Eduardo; Gianfrilli, Daniele; Lenzi, Andrea; Cittadini, Antonio; Marra, Alberto M; Napoli, Raffaele

2018-03-23

Klinefelter syndrome (KS), the most frequent chromosomic abnormality in males, is associated with hypergonadotropic hypogonadism and an increased risk of cardiovascular diseases (CVD). The mechanisms involved in increasing risk of cardiovascular morbidity and mortality are not completely understood. This review summarises the current understandings of the complex relationship between KS, metabolic syndrome and cardiovascular risk in order to plan future studies and improve current strategies to reduce mortality in this high-risk population. We searched PubMed, Web of Science, and Scopus for manuscripts published prior to November 2017 using key words "Klinefelter syndrome" AND "insulin resistance" OR "metabolic syndrome" OR "diabetes mellitus" OR "cardiovascular disease" OR "testosterone". Manuscripts were collated, studied and carried forward for discussion where appropriate. Insulin resistance, metabolic syndrome, and type 2 diabetes are more frequently diagnosed in KS than in the general population; however, the contribution of hypogonadism to metabolic derangement is highly controversial. Whether this dangerous combination of risk factors fully explains the CVD burden of KS patients remains unclear. In addition, testosterone replacement therapy only exerts a marginal action on the CVD system. Since fat accumulation and distribution seem to play a relevant role in triggering metabolic abnormalities, an early diagnosis and a tailored intervention strategy with drugs aimed at targeting excessive visceral fat deposition appear necessary in patients with KS.

Fatal pulmonary embolism following splenectomy in a patient with Evan's syndrome: case report and review of the literature.

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Monga, Varun; Maliske, Seth M; Perepu, Usha

2017-01-01

Evans syndrome (ES) is a rare disease characterized by simultaneous or sequential development of autoimmune hemolytic anemia (AIHA) and immune thrombocytopenia (ITP) with or without immune neutropenia. Splenectomy is one of the treatment options for disease refractory to medical therapy. Venous thromboembolism (VTE) following splenectomy for hematological diseases has an incidence of 10%. Here we describe a case report of a young patient hospitalized with severe hemolytic anemia with Hgb 4.8 g/dl. He developed thrombocytopenia with platelet nadir of 52,000/mm 3 , thus formally diagnosed with ES. He failed standard medical therapy. He underwent splenectomy and had a fatal outcome. Autopsy confirmed the cause of death as pulmonary embolism (PE). This case report and review of the literature highlight important aspects of the association between VTE, splenectomy, and hemolytic syndromes including the presence of thrombocytopenia. The burden of the disease is reviewed as well as various pathophysiologic mechanisms contributing to thromboembolic events in these patients and current perioperative prophylactic anticoagulation strategies. Despite an advancing body of literature increasing awareness of VTE following splenectomy, morbidity and mortality remains high. Identifying high risk individuals for thromboembolic complications from splenectomy remains a challenge. There are no consensus guidelines for proper perioperative and post-operative anti-coagulation. We encourage future research to determine which factors might be playing a role in increasing the risk for VTE in real time with hope of forming a consensus to guide management.

Presentation of Depression in Autism and Asperger Syndrome: A Review

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Stewart, Mary E.; Barnard, Louise; Pearson, Joanne; Hasan, Reem; O'Brien, Gregory

2006-01-01

Depression is common in autism and Asperger syndrome, but despite this, there has been little research into this issue. This review considers the current literature on the prevalence, presentation, treatment and assessment of depression in autism and Asperger syndrome. There are diagnostic difficulties when considering depression in autism and…

Neuroleptic malignant syndrome in an elderly with quetiapine: A case report and review of literature

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Devakshi Dua

2017-01-01

Full Text Available Over the years, there is an increase in the prescription of antipsychotics among elderly patients, and these are used for various clinical indications such as psychotic disorders, affective disorders, behavioral and psychological symptoms of dementia and delirium. Quetiapine is one of the preferred antipsychotics among elderly because of its safety profile. However, quetiapine has been rarely been associated with the development of neuroleptic malignant syndrome (NMS among elderly. In this report, we discuss a case of NMS in a 70-year-old female, who developed symptoms of NMS at the dose of 200 mg/day, while quetiapine was being used along with lithium. A review of literature suggests that there are 12 cases of NMS reported in subjects older than 55 years of age.

The Savant Syndrome: A Review of the Literature for the Music Educator

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St. Denis, Erika

2015-01-01

Though music educators work with students who have a special learning need or a gifted ability on a daily basis, encountering a student who has both can be unexpected. The literature presented here can be used as a basis for information pertaining to terminology, studies and theories that attempt to explain the savant syndrome, how to identify it,…

Periodic Fever, Aphthous Stomatitis, Pharyngitis and Cervical Adenitis Syndrome: Current Literature Review with a Case Report

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Mahmut Demirtaş

2018-04-01

Full Text Available Periodic Fever, Aphthous Stomatitis, Pharyngitis and Cervical Adenitis syndrome (PFAPA is a frequently seen, important medical condition, which must be kept in mind in periodic fever etiology. Although its etiology is not clearly understood, autoimmune etiology is suspected due to response to steroids. There is no specific test for the diagnosis of disease. Diagnosis is based on symptoms and physical examination. Although medical treatment is the first choice for the management of the disease, tonsillectomy take over in treatment options for termination of attacks and permanent results. We have presented a patient that was performed tonsillectomy in our clinic for frequent attacks despite recurrent medical therapy with diagnosis of PFAPA with review of current literature.

A case study and literature review of surgical treatment for brachial plexus pain caused by Pancoast syndrome

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Xian Hang

2016-10-01

Full Text Available This study reports the diagnosis and treatment of brachial plexus-associated intractable pain caused by Pancoast syndrome, along with the associated literature review, based on a patient we attended to in April 2011. A full examination was performed after his admission, and neurolysis was conducted on the right brachial plexus of lower trunk. Follow-ups and treatment evaluations were carried out 1, 2, 3, and 6 months after the initial neurolysis procedure, which was followed by a radiation therapy two months later. The patient’s pain symptoms were relieved and he partially regained sense awareness and movement of his right hand. We found that early clinical manifestations of Pancoast syndrome are atypical and are sometimes difficult to detect. It is very similar to brachial plexus injury-related pain, and the patient must be referred to an orthopaedics or hand surgery specialist for treatment. Therefore, improving medical practitioners’ general understanding of this disease is essential in order to avoid potential misdiagnoses.

Prader-willi syndrome: A case report and a Chinese literature review.

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Zhu, Junzhen; Cao, Qinying; Zhang, Ning; Zhao, Lijuan

2013-11-01

Prader-Willi syndrome (PWS) is a genetic disorder, resulting from lack of gene expression on the paternally inherited chromosome 15. It is important to determine diagnostic methods for PWS for early treatment. In this study, we report a newborn with Prader-willi syndrome. We further summarized the genetic testing results in the Chinese literature and the relevance of high resolution chromosome and genome-wide copy number variation analysis. There is a heterozygosis deletion of a 5 Mb region in the paternal chromosome 15q11.3-q13.3 by genome-wide copy number variation analysis. However, there is no abnormality in high resolution chromosome karyotype analysis. In conclusion, genome-wide copy number variation analysis is an effective and specific diagnosis method, which will provide scientific evidence for the clinical diagnosis and early treatment of PWS.

THYMOMA (REVIEW OF THE LITERATURE

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O. A. Alexandrov

2017-01-01

Full Text Available Objective. We aimed to systematically review the literature dealing with the epidemiology, classification, clinical course, diagnosis and treatment of thymoma. Material and methods. We reviewed retrospective and prospective randomized trials using Medline and Elibrary databases. Results. The classification system, prognostic factors, paraneoplastic syndromes and their incidence in patients with thyoma were described. The diagnostic value of computed tomography, magnetic resonance imaging and positron emission tomography was evaluated and the methods of morphologic verification were described. The main attention was paid to multimodality treatment of thymoma, including surgery and intraoperative radiotherapy. Conclusion. Thymoma is a rare tumor. The accumulation of long-term follow-up results prompted the changes in clinical management of thymoma. Predisposition to late recurrence even after radical surgery determined multimodality treatment strategies.

Calcified Cavitating Mesenteric Lymph Node Syndrome: Case Presentation and Literature Review

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Dipinder S Keer

2010-01-01

Full Text Available Cavitating mesenteric lymph node syndrome (CMLNS is a rare complication of celiac disease. Globally, only 36 cases of CMLNS have been reported to date. The present article reports an incidence of its unique pathology and possible complications of celiac disease, followed by a review of the syndrome. A case involving a 51-year-old man with celiac disease who was referred to hospital because of a non-tender abdominal mass is described. Plain film x-ray of the abdomen revealed fine curvilinear calcifications in the left lower quadrant. A complex, cystic-appearing, lobulated mass with somewhat echogenic walls most consistent with calcifications was revealed on subsequent ultrasound (US imaging. Colour Doppler imaging showed no evidence of vascularity within the lesion. Computed tomography (CT imaging showed a thin rim of calcification in the walls of multiple cystic components. Enhanced magnetic resonance (MR imaging revealed a mixed solid and cystic multiloculated mass, with fat-fluid layers originating from the root of the small bowel mesentery. A CT-guided biopsy was performed. The fine-needle aspirate revealed calcified matter with no associated cellular material. No malignant cells were seen; CMLNS was established as the diagnosis. To the authors’ knowledge, there are no previous reports in the literature describing the finding of rim calcification on US or MR imaging in the setting of CMLNS. CMLNS is an important diagnosis to consider, particularly in patients with a history of celiac disease. The finding of rim calcification on US in the setting of cavitating mesenteric adenopathy should prompt further diagnostic imaging studies such as CT or MR imaging. These may lead to additional pathology studies such as a CT-guided biopsy to further characterize the lesion at the cellular level, to investigate potential malignancy and to further guide follow-up and patient management.

Exploding Head Syndrome in the Epilepsy Monitoring Unit: Case Report and Literature Review.

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Gillis, Kara; Ng, Marcus C

2017-01-01

Diagnosis of paroxysmal events in epilepsy patients is often made through video-telemetry electroencephalography in the epilepsy monitoring unit. This case report describes the first-ever diagnosis of exploding head syndrome in a patient with longstanding epilepsy and novel nocturnal events. In this report, we describe the presentation of exploding head syndrome and its prevalence and risk factors. In addition, the prevalence of newly diagnosed sleep disorders through video-telemetry electroencephalography in the epilepsy monitoring unit is briefly reviewed. This report also illustrates the novel use of clobazam for the treatment of exploding head syndrome.

[The Coffin-Siris syndrome. Description of 4 patients and a literature review].

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van Heyst, A F; Kollée, L A; Brunner, H G

1993-02-01

Four patients with Coffin-Siris syndrome are described. In addition a 30 cases are reviewed. The most frequent symptoms are dysmorphic features of the facies with sparse scalp hair, nail hypoplasia and mental retardation.

Effectiveness of cognitive behavioral therapy in the treatment of fibromyalgia syndrome: a meta-analytic literature review Effectiveness of cognitive behavioral therapy in the treatment of fibromyalgia syndrome: a meta-analytic literature review

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A. Minelli

2012-07-01

Full Text Available Fibromyalgia (FM is a chronic disorder caused by a dysfunction of central nervous system sensitization. This syndrome is characterized by widespread pain and diffuse tenderness, but often also presents fatigue, sleep disturbances, and a whole range of symptoms such as morning stiffness, decreased physical function and dyscognition. FM is usually treated with pharmacological and non-pharmacological treatments. The non-pharmacological interventions include cognitive behavioral therapy (CBT, physiotherapy, acupuncture and patient education programs. In order to evaluate the efficacy of CBT and compare it with other non-pharmacological treatments, we performed a review of the meta-analytic literature. We evaluated the methodological quality of publications found by following the recommendations of the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses statement. Data showed that CBT does not provide better results than other non-pharmacological treatments on outcomes of pain, fatigue, sleep disturbance and quality of life, at either a short or long-term evaluation. On the contrary, CBT seems to be more effective on symptoms of depression for a short period, whereas it considerably improves the pain self-management and reduces the number of visits to the doctor. The data currently available indicate that cost-effectiveness studies could help us to understand whether the reduction in the number of visits to the doctor could balance the cost of CBT to the health public system.Fibromyalgia (FM is a chronic disorder caused by a dysfunction of central nervous system sensitization. This syndrome is characterized by widespread pain and diffuse tenderness, but often also presents fatigue, sleep disturbances, and a whole range of symptoms such as morning stiffness, decreased physical function and dyscognition. FM is usually treated with pharmacological and non-pharmacological treatments. The nonpharmacological interventions include

Late-onset cytomegalovirus infection complicated by Guillain-Barre syndrome in a kidney transplant recipient: case report and review of the literature.

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Shaban, E; Gohh, R; Knoll, B M

2016-04-01

Cytomegalovirus (CMV) infection remains a common infection after solid-organ transplantation. In the general population CMV disease is associated with Guillain-Barre syndrome (GBS), an autoimmune disease leading to an acute peripheral neuropathy, in 1 of 1000 cases. Interestingly, GBS is a rarely observed complication in solid-organ transplant recipients, possibly related to maintenance immunosuppression. We describe a case of CMV infection complicated by GBS in a kidney transplant recipient and review the literature.

Hearing loss among patients with Turner's syndrome: literature review

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Cresio Alves

2014-06-01

Full Text Available INTRODUCTION: Turner's syndrome (TS is caused by a partial or total deletion of an X chromosome, occurring in 1:2,000 to 1:5,000 live born females. Hearing loss is one of its major clinical manifestations. However, there are few studies investigating this problem. OBJECTIVES: To review the current knowledge regarding the epidemiology, etiology, clinical manifestations and diagnosis of hearing impairment in patients with TS. METHODS: A bibliographic search was performed in the Medline and Lilacs databanks (1980-2012 to identify the main papers associating Turner's syndrome, hearing impairment and its clinical outcomes. CONCLUSIONS: Recurrent otitis media, dysfunction of the Eustachian tube, conductive hearing loss during infancy and sensorineural hearing loss in adolescence are the audiologic disorders more common in ST. The karyotype appears to be important in the hearing loss, with studies demonstrating an increased prevalence in patients with monosomy 45,X or isochromosome 46,i(Xq. Morphologic studies of the cochlea are necessary to help out in the clarifying the etiology of the sensorineural hearing loss.

[Turner syndrome and genetic polymorphism: a systematic review].

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Trovó de Marqui, Alessandra Bernadete

2015-01-01

To present the main results of the literature on genetic polymorphisms in Turner Syndrome and their association with the clinical signs and the etiology of this chromosomal disorder. The review was conducted in the PubMed database without any time limit, using the terms Turner syndrome and genetic polymorphism. A total of 116 articles were found, and based on the established inclusion and exclusion criteria 17 were selected for the review. The polymorphisms investigated in patients with Turner Syndrome were associated with growth deficit, causing short stature, low bone mineral density, autoimmunity and cardiac abnormalities, which are frequently found in patients with Turner Syndrome. The role of single nucleotide polymorphisms (SNPs) in the etiology of Turner syndrome, i.e., in chromosomal nondisjunction, was also confirmed. Genetic polymorphisms appear to be associated with Turner Syndrome. However, in view of the small number of published studies and their contradictory findings, further studies in different populations are needed in order to clarify the role of genetic variants in the clinical signs and etiology of the Turner Syndrome. Copyright © 2015 Sociedade de Pediatria de São Paulo. Publicado por Elsevier Editora Ltda. All rights reserved.

Lung cystic disease and Sjogren's syndrome: Report of the first case in Colombia and revision of the literature

International Nuclear Information System (INIS)

Rojas Villarraga, Adriana; Mendez Patarroyo, Paul; Iglesias Gamarra, Antonio; Rondon Herrera, Federico; Sanchez Contreras, Alvaro; Restrepo Suarez, Jose Felix

2002-01-01

In this paper we present a patient with primary Sjogren's syndrome, autoimmune hypothyroidism, and diffuse cystic lung Involvement. A complete literature review about cystic and bollous long involvement in Sjogren's syndrome is presented. This is the first report in Colombia of this disease

Bisphosphonates for treatment of Complex Regional Pain Syndrome type 1: A systematic literature review and meta-analysis of randomized controlled trials versus placebo.

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Chevreau, Maxime; Romand, Xavier; Gaudin, Philippe; Juvin, Robert; Baillet, Athan

2017-07-01

Complex Regional Pain Syndrome Type 1 is a severely disabling pain syndrome with no definite established treatment. We have performed a systematic literature review and meta-analysis of all randomized controlled trials to assess the benefit of bisphosphonates on pain and function in patients with Complex Regional Pain Syndrome Type 1. A systematic literature search was performed in the Medline, Embase and Cochrane databases. Two authors selected independently blinded randomized trials comparing bisphosphonates to placebo on short-term (J30 to J40) and medium term pain (M2-M3), safety and function in patients with CRPS 1. The methodological quality of the studies was analyzed. Data were aggregated using the method of the inverse of the variance. 258 articles were identified. Four trials of moderate to good quality comprising 181 patients (90 in the bisphosphonate group and 91 in the placebo group) were included in this meta-analysis. Short-term pain Visual Analog Scale was significantly lower in the bisphosphonate group versus the placebo group (SMD=-2.6, 95%CI [-1.8, -3.4], Ppain (SMD=-2.5, 95%CI [-1.4, -3.6], Ppain in patients with Complex Regional Pain Syndrome type 1. Other studies are needed to determine their effectiveness. Copyright © 2017. Published by Elsevier SAS.

Artificial tears potpourri: a literature review

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Moshirfar, Majid; Pierson, Kasey; Hanamaikai, Kamalani; Santiago-Caban, Luis; Muthappan, Valliammai; Passi, Samuel F

2014-01-01

Numerous brands and types of artificial tears are available on the market for the treatment of dysfunctional tear syndrome. Past literature has focused on comparing the components of these products on patient’s clinical improvement. The wide array of products on the market presents challenges to both clinicians and patients when trying to choose between available tear replacement therapies. Different formulations affect patients based on etiology and severity of disease. In order to provide an unbiased comparison between available tear replacement therapies, we conducted a literature review of existing studies and National Institutes of Health clinical trials on commercially available, brand name artificial tears. Outcomes evaluated in each study, as well as the percent of patients showing clinical and symptomatic improvement, were analyzed. Fifty-one studies evaluating different brands of artificial tears, and their efficacy were identified. Out of the 51 studies, 18 were comparison studies testing brand name artificial tears directly against each other. Nearly all formulations of artificial tears provided significant benefit to patients with dysfunctional tear syndrome, but some proved superior to others. From the study data, a recommended treatment flowchart was derived. PMID:25114502

Asperger Syndrome In Adulthood: A Review

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Ali Tufan

2011-09-01

Full Text Available Asperger’s syndrome (AS is one of the disorders classified under pervasive developmental disorders. Individuals with AS have problems in social interaction, unusual special interests, and a tendency to ritualized behavior. AS is a chronic disorder that affects the social, occupational, sexual and psychological functionality of individiuals with AS. This review was prepared on the basis of a selective literature review by Pubmed and information in relevant reference books. As a result, longitudinal studies are deemed to be necessary to be able understand the features of AS in adulthood.

Tietze's syndrome: case report and literature review | Chuhwak ...

African Journals Online (AJOL)

The case report is on Tietze's syndrome – a disorder that is quite rare. Costochondritis has been thought to be synonymous with Tietze's syndrome until recently [2002] when costochondritis was differentiated from Tietze's syndrome. Costochondritis is inflammation of the costochondral joints without swelling. Tietze's ...

Vogt Koyanagi Harada Syndrome mimicking multiple sclerosis: A case report and review of the literature.

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Algahtani, Hussein; Shirah, Bader; Algahtani, Raghad; Alkahtani, Abdulah; Alwadie, Saeed

2017-02-01

Vogt Koyanagi Harada (VKH) Syndrome, also called uveomeningioencephalitis, is a chronic disorder characterized by inflammation of the uvea, meninges, auditory system, and integumentary system. The association between VKH syndrome and multiple sclerosis (MS) has been reported only once in the literature in a patient who developed VKH syndrome after two years of the diagnosis of MS. In this article, we report a case who was misdiagnosed and treated as MS until she was proven to have VKH syndrome, and a diagnosis of MS was excluded. VKH syndrome is a systemic disorder that may present with clinical and/or radiological features mimicking MS. Applying diagnostic criteria is extremely important for confirming or excluding the diagnosis. Detailed history and physical examination are of paramount importance to score the final diagnosis. Rigorous search for red flags for both conditions is very helpful. Copyright © 2017 Elsevier B.V. All rights reserved.

[Cayler syndrome: A case report and review of the literature].

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Bellaiche, J; Correia, N; Bouche Pillon Persyn, M A; Chiriac, S; Bodin, F; François, C

2016-08-01

Facial asymmetries to the tears are rare. We report a pediatric original case that may fall within the framework of a Cayler syndrome. Through its clinical presentation, we will discuss differential diagnoses, associated forms, its etiology, and its management. At the maternity unit, in a male infant, after vaginal delivery at term without extraction, was discovered a lack of mobility of the labial commissure on the right side, only when crying. The rest of the examination was unremarkable, except ipsilateral microtia. Genetically, karyotype was 46,XY, 22q11 without microdeletion. The head and neck MRI and echocardiogram were normal. Asymmetry with tears has been described in the literature, through association with microdeletion 22q11 syndrome. The originality of this case was the presence of an isolated muscle abnormality. Muscles affected by this syndrome are: Musculus depressor labii inferioris, the Depressor anguli oris, and Mentalis musculus. The three muscles can be affected concomitantly. Isolated involvment of the Depressor anguli oris muscle has also been described. The mechanical dysfunction can be either linked to muscle innervation agenesis or to a defect thereof. There is no specific treatment. The symptoms improve with age by decreasing the frequency of crying. However, it is important to know this pathology in order to seek an optimum balance further in search of associated abnormalities (FISH 22q11, cardiac Doppler ultrasound) but also to educate, to reassure families often worried by the situation. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

Effect of endotoxin on radiation syndrome - a review

Energy Technology Data Exchange (ETDEWEB)

Hlouskova, D; Zak, M

1979-01-01

A review is given of studies on the effect of endotoxin on postirradiation syndrome. Recent knowledge is summed up on the compositions of endotoxins and on their general biological effects. Endotoxins of different bacteria are discussed such as are utilized for favourably affecting the postirradiation syndrome. For each bacterium the classification is shown in the microbe system. This, however, is not standard in the literature. General assessment is made of studies published so far on radiation protection of organisms with endotoxins.

Reversible posterior leukoencephalopathy syndrome secondary to systemic-onset juvenile idiopathic arthritis: A case report and review of the literature.

Science.gov (United States)

Zhang, Pingping; Li, Xiaofeng; Li, Yating; Wang, Jing; Zeng, Huasong; Zeng, Xiaofeng

2015-01-01

Reversible posterior leukoencephalopathy syndrome (RPLS) is a clinical syndrome based on changes in clinical imaging, and it has been reported to mainly occur in adults. However, it has been recently discovered that RPLS is also prevalent in infant patients, particularly in those using glucocorticoids, immunosuppressant medications and cytotoxic drugs. The current study presents a 5-year-old male with a previous diagnosis of systemic-onset juvenile idiopathic arthritis (SoJIA) and macrophage-activation syndrome who developed posterior reversible encephalopathy syndrome during treatment with glucocorticoids, disease-modifying antirheumatic drugs and biological agent (etanercept) therapy. After ~5 days of treatment, the patient made a complete clinical recovery; the magnetic resonance imaging reviewed 2 weeks later showed that the previous hyper-intensity signal had disappeared and the multiple lesions in the brain had been completely absorbed. The case report shows that, conforming to recent literature, SoJIA in infants should be considered a risk factor for developing RPLS. The clinical manifestations of the disease are multiple, but usually reversible, and the patients mostly have a good prognosis. Rapid diagnosis and treatment is essential as early treatment may prevent progression to irreversible brain damage. By increasing the awareness of RPLS, the patient care may improve and further insight may be gained.

Testicular microlithiasis and testicular cancer: review of the literature.

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Pedersen, Malene Roland; Rafaelsen, Søren Rafael; Møller, Henrik; Vedsted, Peter; Osther, Palle Jörn

2016-07-01

To perform a systematic literature review to assess whether the occurrence of testicular microlithiasis (TML) in conjunction with other risk factors is associated with testicular cancer. A systematic literature search was performed of original articles in English published 1998 to 2015. Relevant studies were selected by reading the title and abstract by two of the authors. Studies were included if TML was diagnosed by ultrasonography and a risk condition was reported. Studies were only eligible if the particular risk condition was reported in more than one article. In total, 282 abstracts in were identified. Based on title and abstract the eligibility was assessed and 31 studies were included. Five conditions in relation to TML and testicular cancer emerged: Down syndrome, McCune-Albright syndrome, cryptorchidism, infertility and familial disposition of testicular cancer. Data support the conclusion that TML is not an independent risk factor for testicular cancer but associated with testicular cancer through other conditions. In male infertility, TML appears to be related to an increased risk of testicular cancer possibly as part of a testicular dysgenesis syndrome.

Paralytic rabies: MRI findings and review of literature

OpenAIRE

Jayantee Kalita; Sanjeev K Bhoi; Jogendra K Bastia; Sangmitra Lashkar; Anita Mahadevan; Usha K Misra

2014-01-01

Paralytic rabies closely simulates Guillain-Barre syndrome or ascending myelitis often causing clinical dilemma. Two such patients were managed in our hospital whose magnetic resonance imaging (MRI) revealed characteristic findings revealing T2 hyper intensity in central spinal cord and in posterior brainstem and hypothalamus. These MRI findings are helpful in the diagnosis of rabies in appropriate setting. We also review the literature on MRI changes in paralytic rabies.

Christ-Siemens-Touraine Syndrome: A Case Report and Review of the Literature

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Sepideh Mokhtari

2012-01-01

Full Text Available Ectodermal dysplasia is a rare disorder with defects in two or more of the following structures: the teeth and the skin and its appendages including hair, nails, eccrine, and sebaceous glands. Anhidrotic ectodermal dysplasia is the most common type of disease. This rare disorder, also known as Christ-Siemens-Touraine syndrome, manifests as a triad of hypotrichosis, asteatosis, and anhidrosis. In view of the rarity of this entity, a classical case of anhidrotic ectodermal dysplasia is reported. We have also provided a review of recent investigations in the area of dental abnormalities in this syndrome.

Familial atypical multiple mole melanoma syndrome in an adult Indian male-case report and literature review

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Radhika C G Raj

2015-01-01

Full Text Available Familial atypical multiple mole melanoma syndrome (FAMMMS is an autosomal dominant genodermatosis characterized by multiple melanocytic nevi, usually more than 50, and a family history of melanoma. It is known to be associated with carcinoma of pancreas and other malignancies involving gastrointestinal tract, breast, lung, larynx, and skin in the kindred. There is no published report of FAMMMS in dark-skinned individuals. We report a case of FAMMMS in a dark-skinned adult Indian male, who had multiple extensive nevi all over the body and oral mucosa; associated with malignant melanoma, squamous cell carcinoma (Marjolin′s ulcer, and carcinoma of pancreas. His father had died of carcinoma of lung and his sister had a partial phenotypic expression. The clinical presentation of the case is discussed with review of literature.

Toxic shock syndrome due to community-acquired methicillin-resistant Staphylococcus aureus infection: Two case reports and a literature review in Japan.

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Sada, Ryuichi; Fukuda, Saori; Ishimaru, Hiroyasu

2017-01-01

Community-acquired methicillin-resistant Staphylococcus aureus has been spreading worldwide, including in Japan. However, few cases of toxic shock syndrome caused by Community-acquired methicillin-resistant Staphylococcus aureus have been reported in Japan. We report 2 cases, in middle-aged women, of toxic shock syndrome due to Community-acquired methicillin-resistant Staphylococcus aureus via a vaginal portal of entry. The first patient had used a tampon and the second patient had vaginitis due to a cleft narrowing associated with vulvar lichen sclerosus. Both patients were admitted to our hospital with septic shock and severe acute kidney injury and subsequently recovered with appropriate antibiotic treatment. In our review of the literature, 8 cases of toxic shock syndrome caused by Community-acquired methicillin-resistant Staphylococcus aureus were reported in Japan. In these 8 cases, the main portals of entry were the skin and respiratory tract; however, the portal of entry of Community-acquired methicillin-resistant Staphylococcus aureus from a vaginal lesion has not been reported in Japan previously.

Dhat syndrome: a systematic review.

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Udina, Marc; Foulon, Hubert; Valdés, Manuel; Bhattacharyya, Sagnik; Martín-Santos, Rocío

2013-01-01

Dhat syndrome is a widely recognized clinical condition often seen on the Indian subcontinent that is characterized by a preoccupation with semen loss in urine and other symptoms such as fatigue or depressed mood. Although it has been considered to be a culture-bound syndrome, it may also be regarded as a distinct manifestation of depression or another medical illness. The purpose of this paper was to carry out a systematic review on Dhat syndrome. A review of the literature published up until February 2012 was conducted using the key words [Dhat syndrome] or [semen-loss anxiety] or [semen-loss syndrome]. We included only original studies. The majority of studies reported patients from the Indian subcontinent. There was a high degree of heterogeneity among the studies. Dhat was a common condition in young people from certain cultures and origins. Depressive and anxiety symptoms were common, including fatigue, sleepiness, and sexual dysfunction. Good clinical engagement, social support, and sexual education were useful in some cases. Given the high rate of comorbid depressive symptoms, antidepressant has been used. In an increasingly globalized world, clinicians must be able to properly diagnose and treat patients from other cultures, who may report symptoms that are influenced by their beliefs, culture, or place of origin. Dhat may be a common manifestation of a depressive or anxiety disorder in certain cultures. Further research is needed to improve our understanding of this condition, to clarify its nosologic status, and to offer appropriate treatment to affected individuals. Copyright © 2013 The Academy of Psychosomatic Medicine. Published by Elsevier Inc. All rights reserved.

Fragile X syndrome in females - a familial case report and review of the literature.

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Stembalska, Agnieszka; Łaczmańska, Izabela; Gil, Justyna; Pesz, Karolina A

2016-01-01

Fragile X syndrome (FXS), one of the manifestations of FMR1-related disorders, is one of the most frequent genetic causes of intellectual disability. In over 99% of all cases it results from the expansion of CGG repeats in the 5'-untranslated region of the FMR1 gene and presents in males and in about 50% of the females with an FMR1 full mutation, usually with a milder phenotype. Although the morphologic and behavioral phenotype in males is a well-recognized entity, the presentation in females is variable and not as specific. The objective of this paper is to present a family with quite a severe expression of the disorder in two sisters with a full mutation. We report on a two-generation family where both males and females were found to be affected by FXS. We also present the diagnostic pathway and methods that led to the diagnosis of fragile X syndrome in the two sisters, as well as the method that explained the normal phenotype in their mother. The CGG repeats analysis in the FMR1 gene showed one normal allele and one allele with a full mutation in both sisters (probands) and their mother. A full mutation was also found in three male cousins of the probands. The analysis of the X-chromosome methylation status has shown a random X inactivation in proband 1 and 2 and a non-random one in the proband's mother, with the normal allele predominantly active. The reasons for different clinical presentations are discussed; moreover a review of the literature on females with FXS is presented. We hope that this paper will facilitate the future diagnosis of fragile X syndromes in females.

Adaptive Functioning in Williams Syndrome: A Systematic Review

Science.gov (United States)

Brawn, Gabrielle; Porter, Melanie

2018-01-01

Literature on the level of adaptive functioning and relative strengths and weaknesses in functioning of individuals with Williams syndrome (WS) was reviewed. The electronic databases PsycINFO, PubMed, Expanded Academic, Web of Science, Scopus and ProQuest were searched electronically for relevant articles and dissertations using the search terms…

Poland's syndrome - a case report and review of the literature

International Nuclear Information System (INIS)

Carvalho, Antonio Carlos Pires; Nogueira, Juliana Elen; Beze, Rodrigo Santos.

2000-01-01

The authors report the case of a patient with congenital anomalies of the left hand associated with total absence of the pectoralis minor muscle and partial absence of the pectoralis major muscle. The radiological findings were assessed and the literature was reviewed. (author)

Potential Risk Factors for the Onset of Complex Regional Pain Syndrome Type 1: A Systematic Literature Review

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Tracey Pons

2015-01-01

Full Text Available Anaesthetists in the acute and chronic pain teams are often involved in treating Complex Regional Pain Syndromes. Current literature about the risk factors for the onset of Complex Regional Pain Syndrome Type 1 (CRPS 1 remains sparse. This syndrome has a low prevalence, a highly variable presentation, and no gold standard for diagnosis. In the research setting, the pathogenesis of the syndrome continues to be elusive. There is a growing body of literature that addresses efficacy of a wide range of interventions as well as the likely mechanisms that contribute to the onset of CRPS 1. The objective for this systematic search of the literature focuses on determining the potential risk factors for the onset of CRPS 1. Eligible articles were analysed, dated 1996 to April 2014, and potential risk factors for the onset of CRPS 1 were identified from 10 prospective and 6 retrospective studies. Potential risk factors for the onset of CRPS 1 were found to include being female, particularly postmenopausal female, ankle dislocation or intra-articular fracture, immobilisation, and a report of higher than usual levels of pain in the early phases of trauma. It is not possible to draw definite conclusions as this evidence is heterogeneous and of mixed quality, relevance, and weighting strength against bias and has not been confirmed across multiple trials or in homogenous studies.

Long-term impact after fulminant Guillain-Barré syndrome, case report and literature review

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Rougé A

2016-11-01

Full Text Available Alain Rougé,1,2 Jérémie Lemarié,1,2 Sébastien Gibot,1,2 Pierre Edouard Bollaert1,2 1Medical Intensive Care Unit, Hôpital Central, University Hospital of Nancy, Nancy, France; 2INSERM UMRS-1116, Faculty of Medicine, University of Lorraine, Nancy, France Abstract: A 47-year-old man was admitted to the intensive care unit a few hours after ­presenting to emergency department with acute diplopia and dysphonia. Swallowing disorders and respiratory muscular weakness quickly required invasive ventilation. On day 3, the patient was in a “brain-death”-like state with deep coma and absent brainstem reflexes. Electroencephalogram ruled out brain death diagnosis as a paradoxical sleep trace was recorded. Cerebrospinal fluid analysis, electrophysiologic studies, and a recent history of diarrhea led to the diagnosis of Campylobacter jejuni-related fulminant Guillain-Barré syndrome (GBS mimicking brain death. The outcome was favorable after long Intensive Care Unit and inpatient rehabilitation stays, despite persistent disability at 9 years follow-up. This case and the associated literature review of 34 previously reported fulminant GBS patients emphasize the importance of electrophysiological investigations during clinical brain-death states with no definite cause. Fulminant GBS has a worse outcome than “standard” GBS with higher rates of severe disability (about 50%. Long-term physiotherapy and specific rehabilitation programs appear essential to improve recovery. Keywords: fulminant Guillain-Barré syndrome, brain death, electroencephalogram, C. jejuni, long-term follow 

Chronic Fatigue Syndrome: Review of the Literature

OpenAIRE

Turgeon, Sue A.

1989-01-01

Chronic fatigue syndrome, previously known as chronic mononucleosis or post-infectious fatigue, is a poorly understood illness characterized by chronic debilitating fatigue, recurrent flu-like symptoms, and few clinical or laboratory abnormalities. Attention was briefly focused on the Epstein-Barr virus (EBV) as a causal agent, but that hypothesis is now in serious doubt. While a significant incidence of psychiatric illness has been demonstrated among patients with the chronic fatigue syndrom...

Neuropsychological performance and menstrual cycle: a literature review

OpenAIRE

Souza,Eliana Gonçalves V.; Ramos,Melissa G.; Hara,Cláudia; Stumpf,Bárbara Perdigão; Rocha,Fábio L.

2012-01-01

Approximately 80% of all women of reproductive age experience psychological and physical changes associated with the premenstrual phase. Cognitive alterations are among the most common complaints. In this context, studies have assessed cognitive performance across the menstrual cycle in healthy women and also in women with premenstrual syndrome (PMS). The main objective of the present study was to review the literature on cognitive function in different phases of the menstrual cycle in women ...

Psychosis, Mood and Behavioral Disorders in Usher Syndrome: Review of the Literature.

Science.gov (United States)

Domanico, Daniela; Fragiotta, Serena; Cutini, Alessandro; Grenga, Pier Luigi; Vingolo, Enzo Maria

2015-01-01

The aim of this review is to focus the current knowledge about mental and behavioral disorders in Usher syndrome. Previous studies described the presence of various mental disorders associated with Usher syndrome, suggesting possible mechanisms of association between these disorders. The most common manifestations are schizophrenia-like disorder and psychotic symptoms. Mood and behavioral disorders are rarely described, and often are associated with more complex cases in co-occurrence with other psychiatric disorders. Neuroimaging studies reported diffuse involvement of central nervous system (CNS) in Usher patients, suggesting a possible role of CNS damage in the pathogenesis of psychiatric manifestations. Genetic hypothesis and stress-related theories have also been proposed.

Fluorodeoxyglucose positron emission tomography-computed tomography scan in von Hippel-Lindau syndrome: a case report and review of literature

International Nuclear Information System (INIS)

Solav, Shrikant; Bhandari, Ritu

2012-01-01

Von Hippel-Lindau (VHL) syndrome is a hereditary autosomal dominant disorder caused by defective tumor suppression gene at 3p25-p26. The gene for VHL disease is found on chromosome 3, and is inherited in a dominant fashion. The VHL gene is a tumor suppressor gene. This means that its role in a normal cell is to stop the uncontrolled growth and proliferation. It is characterized by abnormal growth of blood vessels. It strikes the eyes, central nervous system, kidneys, endocrine glands, etc. It predisposes the patient to retinal angiomas, central nervous system hemangioblastoma, renal cell carcinoma (RCC), pheochromocytomas, islet cell tumor of the pancreas, endolymphatic sac tumors, renal, pancreatic, epididymal cysts. We present a case of familial VHL syndrome whose Fluorine 18-fluorodeoxyglucose positron emission tomography-computed tomography scan was truly positive for adrenal pheochromocytoma but was falsely negative for RCC. Review of literature related to this entity is made. (author)

Temozolomide-Induced Shrinkage of Invasive Pituitary Adenoma in Patient with Nelson’s Syndrome: A Case Report and Review of the Literature

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Maria Kurowska

2015-01-01

Full Text Available Introduction. Invasive tumours in Nelson’s syndrome need aggressive therapy. Recent reports have documented the efficacy of temozolomide (TMZ in the treatment of adenomas resistant to conventional management. Objective. The review of the literature concerning TMZ treatment of atypical corticotroph adenomas and a case study of 56-year-old woman who developed Nelson’s syndrome. Treatment Proceeding. The patient with Cushing’s disease underwent transsphenoidal adenomectomy followed by a 27-month-long period of remission. Due to a regrowth of the tumor, she underwent two reoperations followed by stereotactic radiotherapy. Because of treatment failures, bilateral adrenalectomy was performed. Then she developed Nelson’s syndrome. A fourth transsphenoidal adenomectomy was performed, but there was a rapid recurrence. Five months later, she underwent a right frontotemporal craniotomy. Due to a rapid regrowth of the tumour, the patient did not receive gamma-knife therapy and was treated with cabergoline and somatostatin analogue for some time. Only TMZ therapy resulted in marked clinical, biochemical, and radiological improvement. To date, this is the first case of invasive corticotroph adenoma in Nelson’s syndrome treated with temozolomide in Poland. Conclusion. In our opinion, temozolomide can be an effective treatment option of invasive adenomas in Nelson’s syndrome.

Artificial tears potpourri: a literature review

Directory of Open Access Journals (Sweden)

Moshirfar M

2014-07-01

Full Text Available Majid Moshirfar,1 Kasey Pierson,2,* Kamalani Hanamaikai,3,* Luis Santiago-Caban,1 Valliammai Muthappan,1 Samuel F Passi11Department of Ophthalmology, John A Moran Eye Center, University of Utah, Salt Lake City, UT, USA; 2University of Arizona College of Medicine, Phoenix, Phoenix, AZ, USA; 3A T Still University, School of Osteopathic Medicine in Arizona, Mesa, AZ, USA *These authors contributed equally to this work Abstract: Numerous brands and types of artificial tears are available on the market for the treatment of dysfunctional tear syndrome. Past literature has focused on comparing the components of these products on patient’s clinical improvement. The wide array of products on the market presents challenges to both clinicians and patients when trying to choose between available tear replacement therapies. Different formulations affect patients based on etiology and severity of disease. In order to provide an unbiased comparison between available tear replacement therapies, we conducted a literature review of existing studies and National Institutes of Health clinical trials on commercially available, brand name artificial tears. Outcomes evaluated in each study, as well as the percent of patients showing clinical and symptomatic improvement, were analyzed. Fifty-one studies evaluating different brands of artificial tears, and their efficacy were identified. Out of the 51 studies, 18 were comparison studies testing brand name artificial tears directly against each other. Nearly all formulations of artificial tears provided significant benefit to patients with dysfunctional tear syndrome, but some proved superior to others. From the study data, a recommended treatment flowchart was derived. Keywords: dry eye, tear film, dysfunctional tear syndrome, ophthalmic lubricant, artificial tears, lipid layer, tear osmolarity, TBUT, Systane®, Refresh®, Blink®, GenTeal®, Soothe®, Lacrisert®, ocular surface inflammatory disease, Sjogren�

Cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome): Identification of a novel mutation, use of facial recognition analysis, and review of the literature.

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Tender, Jennifer A F; Ferreira, Carlos R

2018-04-13

Cerebro-facio-thoracic dysplasia (CFTD) is a rare, autosomal recessive disorder characterized by facial dysmorphism, cognitive impairment and distinct skeletal anomalies and has been linked to the TMCO1 defect syndrome. To describe two siblings with features consistent with CFTD with a novel homozygous p.Arg114* pathogenic variant in the TMCO1 gene. We conducted a literature review and summarized the clinical features and laboratory results of two siblings with a novel pathogenic variant in the TMCO1 gene. Facial recognition analysis was utilized to assess the specificity of facial traits. The novel homozygous p.Arg114* pathogenic variant in the TMCO1 gene is responsible for the clinical features of CFTD in two siblings. Facial recognition analysis allows unambiguous distinction of this syndrome against controls.

Ehlers-Danlos syndrome type IV and recurrent carotid-cavernous fistula: review of the literature, endovascular approach, technique and difficulties

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Desal, H.A.; Toulgoat, F.; Raoul, S.; Guillon, B.; Bommard, S.; Naudou-Giron, E.; Auffary-Calvier, E.; Kersaint-Gilly, A. de [Department of Neuroradiology, Laennec Hospital, University of Nantes (France); 1

2005-04-01

We report the follow-up of a previously published case (Forlodou et al. Neuroradiology 38:595-597, 1996) of carotido-cavernous fistulas (CCFs) in a patient presenting with type IV Ehlers-Danlos syndrome (EDS 4) that were successfully treated twice by an endovascular approach. Initial treatment with a detachable balloon was in 1994 for a right CCF, and, 8 years later, a left CCF was treated by selective transarterial occlusion of the cavernous sinus with coils. Unfortunately, the patient suffered from a spontaneous post-operative intracranial haemorrhage in the left hemisphere and died. Review of the literature, technical considerations for bilateral CCF and complication are discussed.

Ehlers-Danlos syndrome type IV and recurrent carotid-cavernous fistula: review of the literature, endovascular approach, technique and difficulties

International Nuclear Information System (INIS)

Desal, H.A.; Toulgoat, F.; Raoul, S.; Guillon, B.; Bommard, S.; Naudou-Giron, E.; Auffary-Calvier, E.; Kersaint-Gilly, A. de

2005-01-01

We report the follow-up of a previously published case (Forlodou et al. Neuroradiology 38:595-597, 1996) of carotido-cavernous fistulas (CCFs) in a patient presenting with type IV Ehlers-Danlos syndrome (EDS 4) that were successfully treated twice by an endovascular approach. Initial treatment with a detachable balloon was in 1994 for a right CCF, and, 8 years later, a left CCF was treated by selective transarterial occlusion of the cavernous sinus with coils. Unfortunately, the patient suffered from a spontaneous post-operative intracranial haemorrhage in the left hemisphere and died. Review of the literature, technical considerations for bilateral CCF and complication are discussed

Bilateral Dentigerous Cyst: An Unusual Case Report and Review of Literature

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Shweta Tikekar

2010-01-01

Full Text Available Dentigerous cysts are the most common developmental cysts of the jaws, most frequently associated with impacted mandibular third molar teeth. Bilateral dentigerous cysts are rare and occur typically in association with a developmental syndrome. The reported occurrence of bilateral dentigerous cysts in the absence of a syndrome is rare and, to date, only 17 cases have been described. The following is a report of a case of unusual bilateral nonsyndromic dentigerous cysts associated with developing mandibular second premolars and a review of literature.

CAMERON LESIONS: LITERATURE REVIEW AND CASE PRESENTATION

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V. V. Vasilenko

2016-01-01

Full Text Available Cameron syndrome is the ulcerative or erosive lesions of mucosal layer at the sac of hiatal hernia which can cause chronic occult or overt bleeding and iron-deficiency anemia. Hiatal hernia is a relatively frequent finding, which is in most cases asymptomatic or manifested by dyspeptic symptoms of varying severity. Despite of being a very important association of hiatal hernia Cameron syndrome is not widely represented in medical literature. That`s the reason of a lack of awareness among physicians, surgeons and endoscopists about that pathology. Cameron lesions are significant pathology because they can become a source of chronic occult as well as an acute life-threatening bleeding. Those lesions of upper gastrointestinal tract are often misinterpreted or overlooked during standard diagnostic procedures. It can lead to the misdiagnosis and false ways of treatment. The review focuses on the pathogenesis, main diagnostic problems and treatment options of that pathology. The diagnostics of the Cameron syndrome is difficult because sometimes the lesions can`t be seen on upper gastrointestinal tract endoscopy. The review describes the criteria by which the physician may suspect Cameron syndrome when endoscopy results are not certain. Clinical case represents an important problem which is often faced by the doctors — the severe iron-deficiency anemia refractory to the medication and blood transfusions in the patients with Cameron lesions. It`s very important for doctor to be aware of that complication to include Cameron syndrome into the diagnostic search for the sources of persistent blood loss. Cameron lesions can be asymptomatic as well as be manifested in the form of severe chronic anemia. And that`s the reason why there are an important issue about the proper treatment which have to be provided in each case. The review describes the effectiveness of different treatment options and makes the conclusion about the principles on which doctor can

Challenges in the management of a patient with Cowden syndrome: case report and literature review

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Melbārde-Gorkuša Inga

2012-04-01

Full Text Available Abstract We would like to present a patient with a classical phenotype of a rare disorder - Cowden syndrome, its diagnostics and management challenges. A breast surgeon has to be aware of this rare condition when treating a patient with breast manifestations of Cowden syndrome and has to refer the patient to a clinical geneticist for further evaluation. Sequencing of the PTEN gene showed the Asp24Gly mutation. According to the latest literature data, the lifetime risk of breast cancer for Cowden syndrome patients is 81% and surgery is a justified option to reduce the risk of breast cancer. Bilateral risk-reducing mastectomy with immediate reconstruction was performed to eliminate further risk of breast cancer. 3 years after the risk-reducing breast surgery the patient is satisfied with the outcome. This is to our best knowledge the first reported Cowden syndrome case with follow-up data after risk-reducing measures have been taken.

Anton-Babinski syndrome in an old patient: a case report and literature review.

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Chen, Jiann-Jy; Chang, Hsin-Feng; Hsu, Yung-Chu; Chen, Dem-Lion

2015-03-01

Anton-Babinski syndrome is a rare disease featuring bilateral cortical blindness and anosognosia with visual confabulation, but without dementia or any memory impairment. It has a unique neuropsychiatric presentation and should be highly suspected in those with odd visual loss and imaging evidence of occipital lobe injury. In the case discussed herein, a 90-year-old man presented with bilateral blindness, obvious anosognosia, and vivid visual confabulation, which he had had for 3 days. Brain computed tomography demonstrated recent hypodense infarctions at the bilateral occipital lobes. Thus, the patient was diagnosed with Anton-Babinski syndrome. Because of his age and the thrombolytic therapy during the golden 3 hours after ischemic stroke, the patient received aspirin therapy rather than tissue plasminogen activator or warfarin. He gradually realized he was blind during the following week, but died of pneumonia 1 month later. In the literature, it is difficult to establish awareness of blindness in patients with Anton-Babinski syndrome, but optimistically, in one report, a patient was aware of blindness within 2 weeks, without vision improvement. Our case illustrates that elderly patients with Anton-Babinski syndrome can partially recover and that 1 week is the shortest time for the establishment of awareness of blindness for sufferers without vision improvement. © 2014 The Authors. Psychogeriatrics © 2014 Japanese Psychogeriatric Society.

Adaptation in families of children with Down syndrome in East Asian countries: an integrative review.

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Choi, Hyunkyung; Van Riper, Marcia

2017-08-01

The purpose of this integrative literature review was to understand the experiences of East Asian families of children with Down syndrome and identify factors affecting their adaptation in the Resiliency Model of Family Stress, Adjustment and Adaptation. Socio-cultural factors influence how well families adapt following the birth of a child with Down syndrome. Existing literature in this area has focused primarily on families from Western cultures. This is problematic because nurses care for families from all over the world. Therefore, the focus of this review is on families of children with Down syndrome living in East Asia, where Confucianism is dominant. Integrative literature review. Online databases (i.e. PubMed, CINAHL and PsycINFO) and a public search engine (i.e. Google Scholar) were used along with manual searches of reference lists and major journals. Studies were limited to original publications written in English and published between 1990-2014. Two authors independently performed integrative review processes proposed by Whittemore and Knafl and a quality assessment using the Mixed Methods Appraisal Tool. Like families in Western cultures, some East Asian families of children with Down syndrome adapted well and even thrived while others struggled. Various socio-cultural factors, including some associated with Confucianism, played a role in how individuals, dyads and families adapted. An understanding of socio-cultural influences can help nurses implement culturally sensitive family-centred interventions with families of children with Down syndrome. It may also facilitate policy changes concerning resources for these families. © 2016 John Wiley & Sons Ltd.

Full penetrance of Morgagni-Stewart-Morel syndrome in a 75-year-old woman: case report and review of the literature.

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Attanasio, Francesca; Granziera, Serena; Giantin, Valter; Manzato, Enzo

2013-02-01

Morgagni-Stewart-Morel syndrome is defined as the presence of hyperostosis frontalis interna, variably associated with metabolic, endocrine, and neuropsychiatric disorders. The possible cause-effect relationship of these associations remains uncertain. A 75-year-old woman presented with severe frontal headache and a history of psychotic disorders. On instrumental examination she was found to have extensive frontal hyperostosis and cortical atrophy. These findings, associated to the metabolic and neuropsychiatric pattern of the patient, are consistent with a high penetrance of Morgagni-Stewart-Morel syndrome. In this clinical case seminar, we summarize the current understanding of the association between hyperostosis frontalis interna and Morgagni-Stewart-Morel, based on a MEDLINE search (case reports, original articles, and reviews published between 1928 and 2011) on this topic. Possible pathophysiological mechanisms underlying both the headache and the hyperostosis frontalis interna are discussed. A case of full penetrance of Morgagni-Stewart-Morel syndrome is reported, presenting many of the clinical features described in the literature. Metabolic and endocrine dysfunctions should be interpreted not only as isolated components of the syndrome, but also as the reason behind its pathogenesis. Endocrine or nutritional disorders may have led to an altered bone metabolism with frontal bone apposition. On the other hand, the severity of our patient's neurological and psychiatric symptoms correlates well with the severity of her hyperostosis frontalis interna and the cortical atrophy.

The idiot savant: a review of the syndrome.

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Treffert, D A

1988-05-01

Since it was first described a century ago, the phenomenon of the idiot savant--the juxtaposition of severe mental handicap and prodigious mental ability--has remained unexplained. The author defines the condition, reviews and summarizes the world literature on this topic since the early reports, describes more recent cases, and catalogs and categorizes idiot savant abilities. Theories to explain the condition are reviewed, newer research findings are highlighted, and the far-reaching implications of the idiot savant syndrome for understanding normal brain function, particularly memory, are outlined.

H Syndrome: A case report and review of literature

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Dilip Meena

2018-01-01

Full Text Available H syndrome is a rare autosomal recessive syndrome characterised by constellation of clinical features and systemic manifestations including cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, hyperglycaemia, low height, and hallux valgus. We report a case of this syndrome with typical clinical findings. We report this case citing the rarity of this uncommon entity.

H Syndrome: A Case Report and Review of Literature

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Meena, Dilip; Chauhan, Payal; Hazarika, Neirita; Kansal, Naveen Kumar

2018-01-01

H syndrome is a rare autosomal recessive syndrome characterised by constellation of clinical features and systemic manifestations including cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, hyperglycaemia, low height, and hallux valgus. We report a case of this syndrome with typical clinical findings. We report this case citing the rarity of this uncommon entity. PMID:29527032

Peutz-Jeguers syndrome: case report and literature review

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Juvenal da Rocha Torres Neto

2012-03-01

Full Text Available The Peutz-Jeghers syndrome is a rare disease characterized by the presence of mucocutaneous melanic pigmentation of the lips, oral mucosa and perioral region, associated with hamartomatous intestinal polyposis. Malignization of the polyps and association with other types of cancer are also usual. Case report: 32-year-old patient, female, white, who had an intestinal occlusion by invagination, discovered during laparotomy, when an intestinal tumor was found as well. The material was sent to anotomopathological analysis. However, the results did not allow to identify the tumor nature due to tumor necrosis. Then, the patient was sent to our service because of the intestinal polyps, and during the interview, the characteristic melanic pigmentation was observed. Videocolonoscopy was performed, with excision of two rectal polyps, identified in the anatomopathological exam as hamartomatous polyps. The patient reported anal imperforation at birth, just like her brother. He had unexplained death. The authors found no correlation of the Peutz-Jeghers syndrome with anal imperforation in the literature and asked the patient if her brother also had the syndrome.A síndrome de Peutz-Jeghers é uma doença rara que tem como características a pigmentação melânica mucocutânea de lábios, regiões perioral e de mucosa bucal associada à polipose hamartomatosa do trato intestinal, com possibilidade de malignização dos pólipos digestivos e associação com outros tipos de câncer. Relato de Caso: Paciente de 32 anos, de gênero feminino, branca, apresentou um quadro de oclusão intestinal por uma invaginação, evidenciada durante laparotomia exploradora, constatando-se, ainda, a presença de uma tumoração intestinal. O material foi encaminhado para exame anatomopatológico; porém, foi inconclusivo para a natureza da tumoração em decorrência da necrose. Em função do pólipo intestinal, a paciente foi encaminhada ao nosso serviço, quando percebemos

Stewart-Treves syndrome – case report and review of the literature

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Marta Koper

2014-09-01

Full Text Available Introduction . Chronic lymphedema, mainly due to total mastectomy with axillary lymph nodes dissection for breast cancer, can induce development of rare and highly malignant cutaneous angiosarcoma. This condition is called Stewart-Treves syndrome (STS. There are only about 400 cases of STS reported in the literature. The long-term prognosis is poor; 5-year survival is up to 10%. Limb amputation appears to be the treatment of choice. Objective . To present a case of Stewart-Treves syndrome with a fatal outcome, which developed 12 years after mastectomy with lymphadenectomy. Case report . A 65-year-old woman was admitted to our department for confluent purpuric macules, hemorrhagic blisters, and violaceous-black nodules, involving the whole left arm and forearm, with chronic severe lymphedema of the extremity. She had a history of left-sided breast cancer 12 years previously, treated with mastectomy with excision of axillary lymph nodes; subsequently, the failure of lymph drainage and lymph stasis developed. Histopathological examination of the tumor was consistent with angiosarcoma. The patient was disqualified from a surgical procedure due to the late stage of malignancy and died approximately a month later. Conclusions . Given unsatisfactory treatment options, the prevention of long-lasting lymphedema is crucial to improve prognosis of patients with breast cancer.

Pneumonectomy in a child with congenital bronchiectasis: A case report and review of literature

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Shankar Gowri

2006-01-01

Full Text Available Williams-Campbell syndrome was first described in 1960 as a rare form of bronchiectasis. Its pathogenesis is characterized by the absence of or markedly diminished bronchial cartilage. We describe a case of a 4-year-old male child in whom respiratory symptoms developed in neonatal period and were found to have histopathological changes consistent with Williams-Campbell syndrome. A brief review of literature has been discussed.

Cushing's Syndrome

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宗, 友厚; 伊藤, 勇; 諏訪, 哲也; 武田, 純; MUNE, Tomoatsu

2003-01-01

Sixteen cases of verified Cushing's syndrome, and twelve cases of probable Cushing's syndrome were reviewed and data on them were compared with various reports on Cushing's syndrome in the literature.

Myoclonic Jerks and Schizophreniform Syndrome: Case Report and Literature Review

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Dominique Endres

2018-05-01

Full Text Available Background: Schizophreniform syndromes can be divided into primary idiopathic forms as well as different secondary organic subgroups (e.g., paraepileptic, epileptic, immunological, or degenerative. Secondary epileptic explanatory approaches have often been discussed in the past, due to the high rates of electroencephalography (EEG alterations in patients with schizophrenia. In particular, temporal lobe epilepsy is known to be associated with schizophreniform symptoms in well-described constellations. In the literature, juvenile myoclonic epilepsy has been linked to emotionally unstable personality traits, depression, anxiety, and executive dysfunction; however, the association with schizophrenia is largely unclear.Case presentation: We present the case of a 28-year-old male student suffering from mild myoclonic jerks, mainly of the upper limbs, as well as a predominant paranoid-hallucinatory syndrome with attention deficits, problems with working memory, depressive-flat mood, reduced energy, fast stimulus satiation, delusional and audible thoughts, tactile hallucinations, thought inspirations, and severe sleep disturbances. Cerebral magnetic resonance imaging and cerebrospinal fluid analyses revealed no relevant abnormalities. The routine EEG and the first EEG after sleep deprivation (under treatment with oxazepam also returned normal findings. Video telemetry over one night, which included a partial sleep-deprivation EEG, displayed short generalized spike-wave complexes and polyspikes, associated with myoclonic jerks, after waking in the morning. Video-EEG monitoring over 5 days showed over 100 myoclonic jerks of the upper limbs, frequently with generalized spike-wave complexes with left or right accentuation. Therefore, we diagnosed juvenile myoclonic epilepsy.Discussion: This case report illustrates the importance of extended EEG diagnostics in patients with schizophreniform syndromes and myoclonic jerks. The schizophreniform symptoms in the

Myoclonic Jerks and Schizophreniform Syndrome: Case Report and Literature Review.

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Endres, Dominique; Altenmüller, Dirk-M; Feige, Bernd; Maier, Simon J; Nickel, Kathrin; Hellwig, Sabine; Rausch, Jördis; Ziegler, Christiane; Domschke, Katharina; Doerr, John P; Egger, Karl; Tebartz van Elst, Ludger

2018-01-01

Background: Schizophreniform syndromes can be divided into primary idiopathic forms as well as different secondary organic subgroups (e.g., paraepileptic, epileptic, immunological, or degenerative). Secondary epileptic explanatory approaches have often been discussed in the past, due to the high rates of electroencephalography (EEG) alterations in patients with schizophrenia. In particular, temporal lobe epilepsy is known to be associated with schizophreniform symptoms in well-described constellations. In the literature, juvenile myoclonic epilepsy has been linked to emotionally unstable personality traits, depression, anxiety, and executive dysfunction; however, the association with schizophrenia is largely unclear. Case presentation: We present the case of a 28-year-old male student suffering from mild myoclonic jerks, mainly of the upper limbs, as well as a predominant paranoid-hallucinatory syndrome with attention deficits, problems with working memory, depressive-flat mood, reduced energy, fast stimulus satiation, delusional and audible thoughts, tactile hallucinations, thought inspirations, and severe sleep disturbances. Cerebral magnetic resonance imaging and cerebrospinal fluid analyses revealed no relevant abnormalities. The routine EEG and the first EEG after sleep deprivation (under treatment with oxazepam) also returned normal findings. Video telemetry over one night, which included a partial sleep-deprivation EEG, displayed short generalized spike-wave complexes and polyspikes, associated with myoclonic jerks, after waking in the morning. Video-EEG monitoring over 5 days showed over 100 myoclonic jerks of the upper limbs, frequently with generalized spike-wave complexes with left or right accentuation. Therefore, we diagnosed juvenile myoclonic epilepsy. Discussion: This case report illustrates the importance of extended EEG diagnostics in patients with schizophreniform syndromes and myoclonic jerks. The schizophreniform symptoms in the framework of

Tenofovir-related nephrotoxicity: case report and review of the literature.

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James, Christopher W; Steinhaus, Mary C; Szabo, Susan; Dressier, Robert M

2004-03-01

Tenofovir is a nucleotide reverse transcriptase inhibitor for treatment of human immunodeficiency virus (HIV) infection. Several cases of renal failure associated with tenofovir therapy recently have been reported. A 54-year-old man with HIV experienced decreasing renal function and Fanconi's syndrome secondary to tenofovir therapy. His condition gradually improved after discontinuation of the drug. The available medical literature for reported cases of tenofovir-related nephrotoxicity indicates that this complication is apparently rare. However, our case report and literature review underscore the importance of monitoring renal function when treating patients with any nucleotide reverse transcriptase inhibitor.

[Wells Syndrome in children and atopy: Retrospective study of 11 cases and review of the literature].

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Brun, J; Chiaverini, C; Bessis, D; Bourrat, E; Lasek-Duriez, A; Hadj-Rabia, S; Boralevi, F; Lacour, J-P

2015-05-01

Well's syndrome, or eosinophilic cellulitis, is rare in childhood, with fewer than 40 pediatric cases being reported since 1979. The physiopathology is unknown. In February 2012, members of the research group of the Department of Pediatric Dermatology Society submitted their case of Wells' syndrome in children aged 0-15 years. Details of clinical, biological and histological features and of therapeutic strategies were collected by physicians using a standardized questionnaire. Pictures were reviewed by the authors. Eleven patients were included (average age: 6 years), with a strong prevalence of atopy (63%). Two types of clinical manifestation were noted: single or multiple cellulitis associated or not with vesiculobullous lesions and fixed urticaria. Eighty-two percent of patients had pruritus and 73% had eosinophilia. For all patients, histological examination of skin biopsies showed an eosinophilic infiltrate extending in the dermis with associated Sweet-like neutrophilic infiltrate being seen in 2 patients. The course of the disease was protracted (mean duration: 8 months) with flare-ups. Treatment varied depending on the doctors (topical or systemic steroids, tacrolimus and dapsone). Our study confirms some of the data in the literature concerning the clinical, histological features and course of Well's syndrome in children. The key information is the high prevalence of atopic children hitherto unreported. In a setting of insect bites, vaccination, infection or traumatism, this unusual background could explain the onset of inflammatory reaction with eosinophils. Oral or topical steroids appear to be the first-line treatment in children when necessary. Well's syndrome in children is rare and characterized by its polymorphism. We report for the first time in a series of patients a high prevalence of atopy, which raises new perspectives in understanding these rare diseases. We propose topical steroids as first-line therapy in children with superficial lesions

Psychological Treatments for Irritable Bowel Syndrome: A Systematic Review and Meta-Analysis

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Lackner, Jeffrey M.; Mesmer, Christina; Morley, Stephen; Dowzer, Clare; Hamilton, Simon

2004-01-01

This study conducted a systematic review to assess the quality of existing literature on psychological treatments for irritable bowel syndrome and to quantify the evidence for their efficacy. Three independent reviewers (2 from England, 1 from the United States) coded the quality of 32 studies, 17 of which provided data suitable for meta-analysis.…

Hepatic Sinusoidal Obstruction Syndrome During Chemotherapy for Childhood Medulloblastoma: Report of a Case and Review of the Literature

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Buckland, Amy; Phillips, Marianne B.; Cole, Catherine H.; Gottardo, Nicholas G.

2014-01-01

Hepatic sinusoidal obstruction syndrome (HSOS), also known as veno-occlusive disease, is a well-recognized toxic complication after autologous and allogeneic hematopoietic stem cell transplant, during treatment of Wilms tumor and rhabdomyosarcoma associated with actinomycin-D, and during acute lymphoblastic leukemia therapy due to oral 6-thioguanine. However, its occurrence in the context of chemotherapy regimens for other childhood malignancies is rare. We report a 5-year-old girl with high-risk anaplastic medulloblastoma, who developed severe HSOS during her second cycle of maintenance chemotherapy, consisting of vincristine, cisplatin, and cyclophosphamide. She was treated with defibrotide with complete resolution of the HSOS. These findings and a review of the literature, highlight the occurrence of HSOS in children outside the established settings of hematopoietic stem cell transplantation, Wilms tumor, rhabdomyosarcoma, and acute lymphoblastic leukemia. PMID:24276042

Pure seminoma in the setting of androgen insensitivity syndrome treated with surgical resection and para-aortic radiation: A case report and review of literature

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Herman Michael

2010-01-01

Full Text Available Complete androgen insensitivity is a rare X-linked disorder characterized by a female phenotype in a chromosomally male individual. Malignant transformation of the un-descended testis is a rare phenomena compared to other inter-sex syndromes. This is a case of a 32-year-old female who was diagnosed with androgen insensitivity and presented to the emergency room with pelvic pain. Later the pelvic pain was found to be due to testicular masses, one of which was pure seminoma. We reviewed the literature emphasizing the biochemical and endocrinologic abnormalities leading to the syndrome, as well as the potential for malignant changes of the un-descended testes, diagnosis, and therapeutic management. We discuss the importance of early diagnosis and the consequence associated with misdiagnosis.

Cortisol, obesity, and the metabolic syndrome: a cross-sectional study of obese subjects and review of the literature.

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Abraham, S B; Rubino, D; Sinaii, N; Ramsey, S; Nieman, L K

2013-01-01

Circulating cortisol and psychosocial stress may contribute to the pathogenesis of obesity and metabolic syndrome (MS). To evaluate these relationships, a cross-sectional study of 369 overweight and obese subjects and 60 healthy volunteers was performed and reviewed the previous literature. Overweight and obese subjects had at least two other features of Cushing's syndrome. They underwent measurements representing cortisol dynamics (24 h urine cortisol excretion (UFC), bedtime salivary cortisol, 1 mg dexamethasone suppression test) and metabolic parameters (BMI, blood pressure (BP); fasting serum triglycerides, HDL, insulin, and glucose). Subjects also completed the Perceived Stress Scale (PSS). UFC, salivary cortisol, and weight from 60 healthy volunteers were analyzed. No subject had Cushing's syndrome. UFC and dexamethasone responses were not associated with BMI or weight. However, salivary cortisol showed a trend to increase as BMI increased (P cortisol levels were weak to moderately correlated with fasting insulin (rs = -0.31, P = 0.01) and HOMA-IR (rs = -0.31, P = 0.01) in men and systolic (rs = 0.18, P = 0.02) and diastolic BP (rs = 0.20, P = 0.009) in women. PSS results were higher in obese subjects than controls, but were not associated with cortisol or metabolic parameters. As expected, WC correlated with fasting insulin, HOMA-IR, and systolic BP (adjusted for BMI and gender; P cortisol and metabolic parameters. Taken together, these data do not support a strong relationship between systemic cortisol or stress and obesity or MS. Copyright © 2013 The Obesity Society.

Rubella associated with hemophagocytic syndrome. First report in a male and review of the literature

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Makram Koubaa

2012-08-01

Full Text Available A 22-year-old man was admitted to our hospital because of fever, skin rash and epistaxis. Physical examination revealed fever (39.5°C, generalized purpura, lymphadenopathy and splenomegaly. Blood tests showed pancytopenia. Bone marrow aspiration and biopsy showed hemophagocytosis with no evidence of malignant cells. Anti rubella IgM antibody were positif and the IgG titers increased from 16 to 50 UI/mL in 3 days. Therefore, he was diagnosed to have rubella-associated hemophagocytic syndrome. We report herein the first case in a man and the sixth case of rubella-associated hemophagocytic syndrome in the literature by search in Pub Med till March 2012.

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

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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.

Bipolar disorder and metabolic syndrome: a systematic review

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Letícia Czepielewski

2013-03-01

Full Text Available OBJECTIVE: Summarize data on metabolic syndrome (MS in bipolar disorder (BD. METHODS: A systematic review of the literature was conducted using the Medline, Embase and PsycInfo databases, using the keywords "metabolic syndrome", "insulin resistance" and "metabolic X syndrome" and cross-referencing them with "bipolar disorder" or "mania". The following types of publications were candidates for review: (i clinical trials, (ii studies involving patients diagnosed with bipolar disorder or (iii data about metabolic syndrome. A 5-point quality scale was used to assess the methodological weight of the studies. RESULTS: Thirty-nine articles were selected. None of studies reached the maximum quality score of 5 points. The prevalence of MS was significantly higher in BD individuals when compared to a control group. The analysis of MS subcomponents showed that abdominal obesity was heterogeneous. Individuals with BD had significantly higher rates of hypertriglyceridemia than healthy controls. When compared to the general population, there were no significant differences in the prevalence of low HDL-c in individuals with BD. Data on hypertension were also inconclusive. Rates of hyperglycemia were significantly greater in patients with BD compared to the general population. CONCLUSIONS: The overall results point to the presence of an association between BD and MS, as well as between their subcomponents.

Mixed vascular nevus syndrome: a report of four new cases and a literature review.

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Ruggieri, Martino; Polizzi, Agata; Strano, Serena; Schepis, Carmelo; Morano, Massimiliano; Belfiore, Giuseppe; Palmucci, Stefano; Foti, Pietro Valerio; Pirrone, Concetta; Sofia, Vito; David, Emanuele; Salpietro, Vincenzo; Mankad, Kshitij; Milone, Pietro

2016-10-01

Mixed vascular nevus (or nevus vascularis mixtus) represents an admixture of cutaneous vascular malformations of the telangiectatic type and angiospastic spots of nevus anemicus. It can occur as an purely cutaneous trait or as a hallmark of a neurocutaneous phenotype (mixed vascular nevus syndrome) characterised by the combination of: (I) paired vascular (telangiectatic and anemic) twin nevi and brain abnormalities of the Dyke-Davidoff-Masson type (i.e., crossed cerebral/cerebellar hemiatrophy with hypoplasia of the ipsilateral cerebral vessels and homolateral hypertrophy of the skull and sinuses (hyperpneumatisation) with contralateral hemispheric hypertrophy); or (II) paired vascular twin nevi and brain malformations of the Dyke-Davidoff-Masson type in association with systemic abnormalities consisting in facial asymmetry, skeletal anomalies (i.e., Legg-Calvé-Perthes-like disease) and disorders of autoimmunity (i.e., diabetes, thyroiditis). In 2014, Happle proposed to name the syndrome with the eponym Ruggieri-Leech syndrome. Review of the existing literature on nevus vascularis mixtus and information on our personal experience on new cases and follow-up of previously reported cases by some of us. The existing literature revealed 4 previous studies including 33 cases with an inferred purely cutaneous trait and 3 cases with a combination of paired vascular twin nevi and brain malformation of the Dyke-Davidoff-Masson type. Our personal experience includes 4 unpublished patients (1 female and 3 males; currently aged 2 to 34 years) seen and followed-up at our Institutions in Italy who had: paired vascular nevi involving either the face (n=2) or the face and parts of the body (n=2); facial asymmetry (n=4); mild to moderate facial dysmorphic features (n=2); developmental delay (n=3); seizures/stroke-like episodes and associated hemiplegia (n=4); muscular hypotrophy (n=2); mild to moderate hemispheric atrophy (n=4); skull osseous hypertrophy (n=4); hyperpneumatisation

Rheumatic fever associated with antiphospholipid syndrome: systematic review.

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da Silva, Felipe; de Carvalho, Jozélio

2014-01-01

To evaluate the clinical associations between rheumatic fever and antiphospholipid syndrome and the impact of coexistence of these two diseases in an individual. Systematic review in electronics databases, regarding the period from 1983 to 2012. The keywords: "Rheumatic Fever," "Antiphospholipid Syndrome," and "Antiphospholipid Antibody Syndrome" are used. were identified 11 cases described in the literature about the association of rheumatic fever and antiphospholipid syndrome. Clinical presentation of rheumatic fever was characterized by the predominance of carditis (11/11) and chorea (7/11). Regarding the manifestations of APS, the stroke was observed in 7/11 (63.6%), with one of them having probable embolic origin. The present study brings the information that the association between APS and RF is quite rare, however, is of great clinical importance. Doctors who deal with the RF should include in their differential diagnosis the APS, especially in the presence of stroke in patients with RF and whose echocardiogram does not show intracavitary thrombi.

Traditional Chinese Medicine Syndromes for Essential Hypertension: A Literature Analysis of 13,272 Patients

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Jie Wang

2014-01-01

Full Text Available Background. To simplify traditional Chinese medicine syndrome differentiation and allow researchers to master syndrome differentiation for hypertension, this paper retrospectively studied the literature and analyzed syndrome elements corresponding to hypertension syndromes. Methods. Six databases including PubMed, EMBASE, Chinese Bio-Medical Literature Database, Chinese National Knowledge Infrastructure, Chinese Scientific Journal Database, and Wan-fang Data were searched from 1/January/2003 to 30/October/2013. We included all clinical literature testing hypertension syndromes and retrospectively studied the hypertension literature published from 2003 to 2013. Descriptive statistics calculated frequencies and percentages. Results. 13,272 patients with essential hypertension were included. Clinical features of hypertension could be attributed to 11 kinds of syndrome factors. Among them, seven syndrome factors were excess, while four syndrome factors were deficient. Syndrome targets were mainly in the liver and related to the kidney and spleen. There were 33 combination syndromes. Frequency of single-factor syndromes was 31.77% and frequency of two-factor syndromes was 62.26%. Conclusions. Excess syndrome factors of hypertension patients include yang hyperactivity, blood stasis, phlegm turbidity, internal dampness, and internal fire. Deficient syndrome factors of hypertension patients are yin deficiency and yang deficiency. Yin deficiency with yang hyperactivity, phlegm-dampness retention, and deficiency of both yin and yang were the three most common syndromes in clinical combination.

Spontaneous HIT syndrome post-knee replacement surgery with delayed recovery of thrombocytopenia: a case report and literature review.

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Poudel, Dilli Ram; Ghimire, Sushil; Dhital, Rashmi; Forman, Daniel A; Warkentin, Theodore E

2017-09-01

associated with seroreversion to a negative SRA (documented at POD151). Our literature review identified joint replacement surgery, specifically knee replacement, to be a relatively common trigger of spontaneous HIT syndrome. Further, including our patient case, 5 of 7 patients with spontaneous HIT syndrome post-orthopedic surgery who received treatment with argatroban developed new and/or progressive lower-limb DVT or recurrent PE despite anticoagulation with this parenteral direct thrombin inhibitor, suggesting that this patient population is at high risk of breakthrough thrombotic events despite treatment with this HIT treatment-approved anticoagulant. Our case also illustrates successful outcome with rivaroxaban for treatment of spontaneous HIT syndrome, consistent with emerging literature supporting safety and efficacy of direct oral anticoagulant therapy for treatment of acute HIT.

Venipuncture-Induced Complex Regional Pain Syndrome: A Case Report and Review of the Literature

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Foad Elahi

2014-01-01

Full Text Available Venipuncture, the most frequently performed invasive medical procedure, is usually benign. Generally it produces only transitory mild discomfort. Venipuncture-induced neuropathic pain is hard to recognize at an early stage. Medical literature reviews show that there is not adequate medical knowledge about this important subject. The inciting incident in complex regional pain syndrome (CRPS can often seem far too trivial to result in a condition with such severe pathophysiologic effects. The practicing physician has little information available to enable early recognition of the condition, initiation of multidisciplinary treatment modalities, and proper referral to pain specialists. We encountered a unique case of venipuncture-induced complex regional pain syndrome (CRPS. The patient is a 52-year-old school teacher with no significant past medical history, who presented initially to the Center of Pain Medicine with left upper extremity pain. The pain started while phlebotomy was performed in the patient’s left antecubital area for routine blood check. The patient’s pain did not improve with multiple medications, physical therapy, or several nerve blocks. The patient demonstrated all the signs and symptoms of chronic neuropathic pain of CRPS in the upper extremity with minimal response to the continuous pain management. We decided to proceed with cervical spinal cord nerve stimulation along with continuing other modalities. The patient responded to this combination. During the follow-up, we noticed that the patient’s pain course was complicated by extension of the CRPS to her lower extremity. We will describe the course of treatment for the patient in this paper. In this paper we will discuss the electrical neuromodulation as an important modality in addition to the multidisciplinary pain management for a patient with venipuncture-induced chronic neuropathic pain.

Syngeneic graft-versus-host disease: a report of two cases and literature review.

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Latif, T; Pohlman, B; Kalaycio, M; Sobecks, R; Hsi, E D; Andresen, S; Bolwell, B J

2003-09-01

Rappeport et al first reported the clinical syndrome of graft-versus-host disease (GVHD) in syngeneic bone marrow transplant patients. Recently, there have been more reports of a GVHD-like syndrome in syngeneic bone marrow transplant patients (SGVHD) that may result in significant clinical morbidity. A total of 17 cases of SGVHD in syngeneic bone marrow transplant patients have been reported to date in the medical literature. The current report reviews these cases and presents two additional cases of severe SGVHD that have occurred at our institution.

Atypical Parathyroid Adenoma Complicated with Protracted Hungry Bone Syndrome after Surgery: A Case Report and Literature Review

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Óscar Alfredo Juárez-León

2015-01-01

Full Text Available Hungry Bone Syndrome refers to the severe and prolonged hypocalcemia and hypophosphatemia, following parathyroidectomy in patients with hyperparathyroidism. We present the case of an eighteen-year-old woman with a four-year history of hyporexia, polydipsia, weight loss, growth retardation, and poor academic performance. The diagnostic work-up demonstrated primary hyperparathyroidism with hypercalcemia of 13.36 mg/dL, a PTH level of 2551 pg/mL, bone brown tumors, and microcalcifications within pancreas and kidneys. Neck ultrasonography revealed a parathyroid adenoma of 33 × 14 × 14 mm, also identified on 99Tc-sestamibi scan. Bone densitometry showed decreased Z-Score values (total lumbar Z-Score of −4.2. A right hemithyroidectomy and right lower parathyroidectomy were performed. Pathological examination showed an atypical parathyroid adenoma, of 3.8 g of weight and 2.8 cm in diameter. After surgery she developed hypocalcemia with tetany and QTc interval prolongation. The patient required 3 months of oral and intravenous calcium supplementation due to Hungry Bone Syndrome (HBS. After 42 months, she is still under oral calcium. Usually HBS lasts less than 12 months. Therefore we propose the term “Protracted HBS” in patients with particularly long recovery of 1 year. We present a literature review of the diagnosis, pathophysiology, and treatment of HBS.

Pituitary stalk transection syndrome: Comparison of clinico-radiological features in adults and children with review of literature

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Kulkarni, Chinmay; Moorthy, Srikanth; Pullara, Sreekumar K; Rajeshkannan, R; Unnikrishnan, Ambika G

2012-01-01

Hypo-pituitarism results from impaired production of one or more of anterior pituitary trophic hormones. A rare cause of hypo-pituitarism is pituitary stalk transection syndrome. The MRI features of this condition in children and its association with hormonal deficiencies have been reported earlier. Reports on adults with this disorder are scarce, with only one small case series published in the recent literature. We studied the hormonal deficiency pattern and MRI findings of 12 patients with pituitary stalk transection syndrome who presented to our department between 2004 and 2011. Six patients were children and six were adults (≥18 years). This article compares the adult clinico-radiological phenotype of pituitary transection syndrome with the pediatric group of patients with same condition

Refeeding syndrome: treatment considerations based on collective analysis of literature case reports.

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Boateng, Akwasi Afriyie; Sriram, Krishnan; Meguid, Michael M; Crook, Martin

2010-02-01

Refeeding syndrome (RFS) represents a group of clinical findings that occur in severely malnourished individuals undergoing nutritional support. Cardiac arrhythmias, multisystem organ dysfunction, and death are the most severe symptoms observed. As the cachectic body attempts to reverse its adaptation to the starved state in response to the nutritional load, symptoms result from fluid and electrolyte imbalances, with hypophosphatemia playing a central role. Because guidelines for feeding the malnourished patient at risk for refeeding syndrome is scarce, we have provided management recommendations based on the knowledge derived from a collection of reported English literature cases of the RFS. A MEDLINE search using keywords including "refeeding syndrome," "RFS," and "refeeding hypophosphatemia" was performed. References from initial cases were utilized for more literature on the subject. We have emphasized the continued importance of managing patients at risk for RFS, compared how management of the severely malnourished patients have evolved over time, and provided comprehensive clinical guidelines based on the sum of experience documented in the case reports for the purpose of supplementing the guidelines available. Based on our review, the most effective means of preventing or treating RFS were the following: recognizing the patients at risk; providing adequate electrolyte, vitamin, and micronutrient supplementation; careful fluid resuscitation; cautious and gradual energy restoration; and monitoring of critical laboratory indices. 2010 Elsevier Inc. All rights reserved.

A Comprehensive Review on Metabolic Syndrome

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Jaspinder Kaur

2014-01-01

Full Text Available Metabolic syndrome is defined by a constellation of interconnected physiological, biochemical, clinical, and metabolic factors that directly increases the risk of cardiovascular disease, type 2 diabetes mellitus, and all cause mortality. Insulin resistance, visceral adiposity, atherogenic dyslipidemia, endothelial dysfunction, genetic susceptibility, elevated blood pressure, hypercoagulable state, and chronic stress are the several factors which constitute the syndrome. Chronic inflammation is known to be associated with visceral obesity and insulin resistance which is characterized by production of abnormal adipocytokines such as tumor necrosis factor α, interleukin-1 (IL-1, IL-6, leptin, and adiponectin. The interaction between components of the clinical phenotype of the syndrome with its biological phenotype (insulin resistance, dyslipidemia, etc. contributes to the development of a proinflammatory state and further a chronic, subclinical vascular inflammation which modulates and results in atherosclerotic processes. Lifestyle modification remains the initial intervention of choice for such population. Modern lifestyle modification therapy combines specific recommendations on diet and exercise with behavioural strategies. Pharmacological treatment should be considered for those whose risk factors are not adequately reduced with lifestyle changes. This review provides summary of literature related to the syndrome’s definition, epidemiology, underlying pathogenesis, and treatment approaches of each of the risk factors comprising metabolic syndrome.

Duplication of the pituitary gland associated with multiple blastogenesis defects: Duplication of the pituitary gland (DPG)-plus syndrome. Case report and review of literature.

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Manjila, Sunil; Miller, Erin A; Vadera, Sumeet; Goel, Rishi K; Khan, Fahd R; Crowe, Carol; Geertman, Robert T

2012-01-01

Duplication of the pituitary gland (DPG) is a rare craniofacial developmental anomaly occurring during blastogenesis with postulated etiology such as incomplete twinning, teratogens, median cleft face syndrome or splitting of the notochord. The complex craniocaudal spectrum of blastogenesis defects associated with DPG is examined with an illustrative case. We report for the first time in the medical literature some unique associations with DPG, such as a clival encephalocele, third cerebral peduncle, duplicate odontoid process and a double tongue with independent volitional control. This patient also has the previously reported common associations such as duplicated sella, cleft palate, hypertelorism, callosal agenesis, hypothalamic enlargement, nasopharyngeal teratoma, fenestrated basilar artery and supernumerary teeth. This study also reviews 37 cases of DPG identified through MEDLINE literature search from 1880 to 2011. It provides a detailed analysis of the current case through physical examination and imaging. The authors propose that the developmental deformities associated with duplication of pituitary gland (DPG) occur as part of a developmental continuum, not as chance associations. Considering the fact that DPG is uniquely and certainly present throughout the spectrum of these blastogenesis defects, we suggest the term DPG-plus syndrome.

Worldwide distribution of Waardenburg syndrome.

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Nayak, Chetan S; Isaacson, Glenn

2003-09-01

To clarify the multiracial occurrence of Waardenburg syndrome, we present a case series and literature review. A computerized review of the English-language literature was conducted to assess the distribution of reported occurrences of Waardenburg syndrome in populations around the world. We detail the clinical features of 2 family cohorts: one of Western European origin and the other from South Asia. A computerized literature review found sporadic cases of the syndrome in many ethnic groups, including Japanese, Taiwanese, and Middle Eastern families. The highest reported incidence is among Kenyan Africans. Waardenburg syndrome accounts for between 2% and 5% of cases of congenital deafness. It was first described in Northern European cohorts and is widely identified in fair-skinned populations. We hope to raise awareness of the worldwide distribution of this important cause of hearing loss.

Unusual headache syndromes.

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Queiroz, Luiz P

2013-01-01

Some headache syndromes have few cases reported in the literature. Their clinical characteristics, pathogenesis, and treatment may have not been completely defined. They may not actually be uncommon but rather under-recognized and/or underreported. A literature review of unusual headache syndromes, searching PubMed and ISI Web of Knowledge, was performed. After deciding which disorders to study, relevant publications in scientific journals, including original articles, reviews, meeting abstracts, and letters or correspondences to the editors were searched. This paper reviewed the clinical characteristics, the pathogenesis, the diagnosis, and the treatment of five interesting and unusual headache syndromes: exploding head syndrome, red ear syndrome, neck-tongue syndrome, nummular headache, and cardiac cephalgia. Recognizing some unusual headaches, either primary or secondary, may be a challenge for many non-headache specialist physicians. It is important to study them because the correct diagnosis may result in specific treatments that may improve the quality of life of these patients, and this can even be life saving. © 2013 American Headache Society.

Collet-Sicard Syndrome from Thrombosis of the Sigmoid-Jugular Complex: A Case Report and Review of the Literature

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Tom P. B. Handley

2010-01-01

Full Text Available Purpose. Collet-Sicard syndrome is a very rare condition characterised by unilateral palsy of the IX–XII cranial nerves. It is distinguished from Villaret syndrome by lack of presence of sympathetic involvement. Current literature contains only two cases of Collet-Sicard syndrome due to idiopathic internal jugular vein thrombosis. Method and Results. We report the case of Collet-Sicard syndrome in a 30-year-old man who presented with delayed development of XIth nerve dysfunction, due to internal jugular vein-sigmoid sinus thrombosis. A multidisciplinary team approach was employed in the management of this patient. At three-month followup, he had significantly improved swallowing, and repeat computed tomography neck scan showed partial recanalisation of the right internal jugular vein. Conclusion. In suspected Collet-Sicard syndrome, a focal primary lesion or metastasis to the temporal bone must be excluded, and sigmoid-jugular complex thrombosis should be considered in the differential diagnosis. Early recognition and treatment may result in significant functional recovery.

Collet-Sicard Syndrome from Thrombosis of the Sigmoid-Jugular Complex: A Case Report and Review of the Literature

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Handley, Tom P. B.; Miah, Mohammed S.; Majumdar, Samit; Hussain, S. S. Musheer

2010-01-01

Purpose. Collet-Sicard syndrome is a very rare condition characterised by unilateral palsy of the IX–XII cranial nerves. It is distinguished from Villaret syndrome by lack of presence of sympathetic involvement. Current literature contains only two cases of Collet-Sicard syndrome due to idiopathic internal jugular vein thrombosis. Method and Results. We report the case of Collet-Sicard syndrome in a 30-year-old man who presented with delayed development of XIth nerve dysfunction, due to internal jugular vein-sigmoid sinus thrombosis. A multidisciplinary team approach was employed in the management of this patient. At three-month followup, he had significantly improved swallowing, and repeat computed tomography neck scan showed partial recanalisation of the right internal jugular vein. Conclusion. In suspected Collet-Sicard syndrome, a focal primary lesion or metastasis to the temporal bone must be excluded, and sigmoid-jugular complex thrombosis should be considered in the differential diagnosis. Early recognition and treatment may result in significant functional recovery. PMID:20706543

Tourette Syndrome: A Mini-Review

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Michal Novotny

2018-03-01

Full Text Available The purpose of this mini-review is to provide the latest information on epidemiology, pathophysiology, diagnosis, and treatment of Tourette syndrome (TS. The authors conducted a literature search of available sources describing the issue of tic disorders with special focus on TS and made a comparison and evaluation of relevant findings. The results of this mini-review indicate that TS is a complex disorder, which has a significant impact on the quality of life of both the patients and his/her family. Therefore, early and proper diagnosis and treatment are necessary in order to reduce or even eliminate both symptoms and social burden of the patient. This requires a multidisciplinary management approach in order to meet the patients’ special needs. Future research should focus on neuroimaging, new neurotransmitter targets, in functional neurosurgery, as well as the effect of non-pharmacological psychotherapies for these people.

Asthma-chronic obstructive pulmonary disease overlap syndrome – Literature review and contributions towards a Portuguese consensus

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D. Araújo

2017-03-01

Full Text Available Introduction: Phenotypic overlap between the two main chronic airway pulmonary diseases, asthma and chronic obstructive pulmonary disease (COPD, has been the subject of debate for decades, and recently the nomenclature of asthma-COPD overlap syndrome (ACOS was adopted for this condition. The definition of this entity in the literature is, however, very heterogeneous, it is therefore important to define how it applies to Portugal. Methods: A literature review of ACOS was made in a first phase resulting in the drawing up of a document that was later submitted for discussion among a panel of chronic lung diseases experts, resulting in reflexions about diagnosis, treatment and clinical guidance for ACOS patients. Results: There was a consensus among the experts that the diagnosis of ACOS should be considered in the concomitant presence of: clinical manifestations characteristic of both asthma and COPD, persistent airway obstruction (post-bronchodilator FEV1/FVC 300 eosinophils/μL or >5% of leukocytes and previous history of atopy should also be considered. The recommended first line pharmacological treatment in these patients is the ICS/LABA association; if symptomatic control is not achieved or in case of clinical severity, triple therapy with ICS/LABA/LAMA may be used. An effective control of the exposure to risk factors, vaccination, respiratory rehabilitation and treatment of comorbidities is also important. Conclusions: The creation of initial guidelines on ACOS, which can be applied in the Portuguese context, has an important role in the generation of a broad nationwide consensus. This will give, in the near future, a far better clinical, functional and epidemiological characterization of ACOS patients, with the ultimate goal of achieving better therapeutic guidance. Keywords: Asthma, Chronic obstructive pulmonary disease, Overlap syndrome, Portuguese consensus

Alstrom syndrome (OMIM 203800: a case report and literature review

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Hegele Robert A

2007-12-01

Full Text Available Abstract Background Alstrom syndrome (AS is a rare autosomal recessive disease characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss. Associated endocrinologic features include hyperinsulinemia, early-onset type 2 diabetes, and hypertriglyceridemia. Thus, AS shares several features with the common metabolic syndrome, namely obesity, hyperinsulinemia, and hypertriglyceridemia. Mutations in the ALMS1 gene have been found to be causative for AS with a total of 79 disease-causing mutations having been described. Case presentation We describe the case of a 27-year old female from an English (Caucasian kindred. She had been initially referred for hypertriglyceridemia, but demonstrated other features suggestive of AS, including blindness, obesity, type 2 diabetes, renal dysfunction, and hypertension. DNA analysis revealed that she is a compound heterozygote with two novel mutations in the ALMS1 gene – H3882Y and V424I. Examination of her family revealed that her phenotypically unaffected mother and younger sister also had heterozygous mutations in the ALMS1 gene. In addition to presenting these novel molecular findings for AS, we review the clinical and genetic features of AS in the context of our case. Conclusion Two novel mutations in the ALMS1 gene causative for AS have been reported here, thereby increasing the number of reported mutations to 81 and providing a wider basis for mutational screening among affected individuals.

Dietary determinants of subclinical inflammation, dyslipidemia and components of the metabolic syndrome in overweight children: a review

NARCIS (Netherlands)

Zimmermann, M.B.; Aeberli, I.

2008-01-01

Objective: To review and summarize the dietary determinants of the metabolic syndrome, subclinical inflammation and dyslipidemia in overweight children. Design: Review of the current literature, focusing on pediatric studies. Participants: Normal weight, overweight, or obese children and

Treatment Considerations for the Cardiometabolic Signs of Polycystic Ovary Syndrome: A Review of the Literature Since the 2013 Endocrine Society Clinical Practice Guidelines.

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Fields, Errol L; Trent, Maria E

2016-05-01

Polycystic ovary syndrome is characterized by an excess in androgen levels, ovarian dysfunction, and polycystic ovarian morphology but is also associated with metabolic dysfunction and risk factors for cardiovascular disease. To our knowledge, there are few therapeutic recommendations for these cardiometabolic risk factors and little evidence of their long-term clinical relevance to cardiovascular health. To determine metabolic and/or cardiovascular outcomes in polycystic ovary syndrome treatment literature since the publication of the most recent Endocrine Society clinical practice guidelines in 2013. We searched PubMed using a string of variations of polycystic ovary syndrome, therapy/treatment, and adolescence, and we included English-language original research articles published while the 2013 clinical practice guidelines were disseminated (ie, articles published from January 1, 2011, to June 1, 2015). Articles that appeared relevant based on a review of titles and abstracts were read in full to determine relevancy. References from relevant articles were reviewed for additional studies. Four topic areas emerged: (1) lifestyle modification, (2) metformin vs placebo or estrogen-progestin oral contraceptives, (3) insulin-sensitizing agents, and (4) estrogen-progestin formulations. Most studies assessed the role of metformin as a monotherapy or dual therapy supplement and found significant benefit when including metformin in polycystic ovary syndrome treatment regimens. Studies showed improvements in cardiometabolic risk factors and, in several, androgen excess and cutaneous and menstrual symptoms. Studies were limited by sample size (range, 22-171), few adolescent participants, and short-term outcomes. Findings show potential for metformin and estrogen-progestin dual therapy but warrant longitudinal studies examining outcomes from adolescence through middle age to determine the effect on long-term cardiovascular health.

Vitamin D and polycystic ovary syndrome: an integrating review

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Ione Maria Ribeiro Soares Lopes

2017-04-01

Full Text Available Introduction: Polycystic ovary syndrome (PCOS is the most common endocrinopathyin women of reproductive age. It causes a metabolic syndrome characterized by insulin resistance, hyperinsulinemia, and dyslipidemia. Vitamin D deficiency and its association with PCOS still represents a controversial subject in the literature. Objective: In this context, this study aimed to understand the association between polycystic ovary syndrome and vitamin D deficiency, and how it occurs. Method: It was an integrative review conducted in the PubMed, Scopus, LILACS, and CINAHL databases from August 2016 to January 2017, with a sample of 7 articles analyzed in their entirety. Results: The evidences according to the studies conducted and the conclusions they identified.  Conclusions: It was concluded that we cannot yet assume that vitamin D deficiency contributes to the pathogenesis of PCOS, nor that the syndrome causes vitamin D deficiency, since the studies are controversial and there is a need for research with higher levels of evidence to clarify these doubts.

Acute Transverse Myelitis in Children, Literature Review.

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Tavasoli, Azita; Tabrizi, Aidin

2018-01-01

Acute transverse myelitis (ATM) is a rare inflammatory demyelinating disorder characterized by relatively acute onset of motor, sensory, and autonomic dysfunction. Children comprise 20% of total cases of ATM. In this review, we described the current literature on childhood ATM, focusing on the epidemiology, pathogenesis, clinical presentation, approach to diagnosis, differential diagnosis, treatment and outcome in the pediatric population. We searched the related articles in electronic databases such as Scopus, EMBASE, Google Scholar, and PubMed. All study designs were included and the essential key words for searching were myelitis, acute transverse myelitis, childhood transverse myelitis, and acquired demyelinating syndromes. The related data focusing on the epidemiology, pathogenesis, clinical presentation, diagnostic approach and differential diagnosis, treatment and outcome of pediatric ATM were gathered and described. ATM is a heterogeneous disorder in children with a broad spectrum of clinical presentation, etiology, and outcome. It may be the first presentation of relapsing acquired demyelinating syndromes and also must be distinguished from compressive and noninflamatory myelopathies. Correct diagnosis is crucial for treatment and prognosis.

Failed back surgery syndrome: review and new hypotheses.

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Bordoni, Bruno; Marelli, Fabiola

2016-01-01

Failed back surgery syndrome (FBSS) is a term used to define an unsatisfactory outcome of a patient who underwent spinal surgery, irrespective of type or intervention area, with persistent pain in the lumbosacral region with or without it radiating to the leg. The possible reasons and risk factors that would lead to FBSS can be found in distinct phases: in problems already present in the patient before a surgical approach, such as spinal instability, during surgery (for example, from a mistake by the surgeon), or in the postintervention phase in relation to infections or biomechanical alterations. This article reviews the current literature on FBSS and tries to give a new hypothesis to understand the reasons for this clinical problem. The dysfunction of the diaphragm muscle is a component that is not taken into account when trying to understand the reasons for this syndrome, as there is no existing literature on the subject. The diaphragm is involved in chronic lower back and sacroiliac pain and plays an important role in the management of pain perception.

Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature.

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Milosavljević, Doris; Overwater, Eline; Tamminga, Saskia; de Boer, Karin; Elting, Mariet W; van Hoorn, Marion E; Rinne, Tuula; Houweling, Arjan C

2016-07-01

Mutations in RIT1, involved in the RAS-MAPK pathway, have recently been identified as a cause for Noonan syndrome. We present two patients with Noonan syndrome caused by a RIT1 mutation with novel phenotypic manifestations, severe bilateral lower limb lymphedema starting during puberty, and fetal hydrops resulting in intrauterine fetal death, respectively. Including our patients, a total of 52 patients have been reported with Noonan syndrome caused by a RIT1 mutation. Our report contributes to the delineation of the phenotype associated with RIT1 mutations and underlines that lymphatic involvement is part of this spectrum. In addition, we provide an overview of the currently described Noonan syndrome patients with RIT1 mutations in literature. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Robinow Syndrome: A Rare Case Report and Review of Literature

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Soman, Cristalle; Lingappa, Ashok

2015-01-01

ABSTRACT Robinow syndrome is an extremely rare genetic disorder. Short-limbed dwarfism, abnormalities in the head, face, and external genitalia, as well as vertebral defects comprise its distinct features. This disorder exists in dominant and recessive patterns. Patients with the dominant pattern exhibit moderate symptoms. More physical characteristics and skeletal abnormalities characterize the recessive group. The syndrome is also known as Robinow-Silverman-Smith syndrome, Robinow dwarfism,...

Turner Syndrome

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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

Treatment modalities for burning mouth syndrome: a systematic review.

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de Souza, Isadora Follak; Mármora, Belkiss Câmara; Rados, Pantelis Varvaki; Visioli, Fernanda

2018-06-01

In the burning mouth syndrome (BMS), patients experience a burning sensation in the oral cavity with no associated injury or clinical manifestation. The etiology of this condition is still poorly understood, and therefore, treatment is challenging. The aim of this study is to perform a systematic review of treatment possibilities described in the literature for BMS. PubMed, Embase, and SciELO databases were searched for randomized clinical trials published between 1996 and 2016. Following application of inclusion and exclusion criteria, 29 papers were analyzed and divided into five subcategories according to the type of treatment described: antidepressants, alpha-lipoic acid, phytotherapeutic agents, analgesic and anti-inflammatory agents, and non-pharmacological therapies. In each category, the results found were compared with regard to the methodology employed, sample size, assessment method, presence or absence of adverse effects, and treatment outcomes. The analysis revealed that the use of antidepressants and alpha-lipoic acid has been showing promising results; however, more studies are necessary before we can have a first-line treatment strategy for patients with BMS. To review systematically the literature about Burning Mouth Syndrome treatment may aid the clinicians to choose the treatment modality to improve patients symptoms based on the best evidence.

Reversible Cerebral Vasoconstriction Syndrome in Pediatrics: A Case Series and Review.

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Coffino, Samantha W; Fryer, Robert H

2017-06-01

Reversible cerebral vasoconstriction syndrome is a transient vasculopathy associated with severe headaches and stroke. In most cases of reversible cerebral vasoconstriction syndrome, there is a precipitating event or trigger, such as pregnancy, serotonin agonist treatment or illicit drug use. The authors present 2 pediatric cases of reversible cerebral vasoconstriction syndrome and review the previous 11 pediatric cases in the literature. In many instances, the clinical and radiographic features are similar in both pediatric and adult cases. In the pediatric group, reported potential triggers include trauma (1/13), exercise (2/13), water to the face (3/13), hypertension (3/13), and medication or substance use (4/13). One surprising difference is that 11 out of 13 pediatric patients with reversible cerebral vasoconstriction syndrome are male while most cases in adults are female. Many of the pediatric patients with reversible cerebral vasoconstriction syndrome were treated with a calcium channel blocker and the overall outcome of pediatric reversible cerebral vasoconstriction syndrome was good, with most patients experiencing a full recovery.

Ectopic corticotropin-releasing hormone (CRH syndrome from metastatic small cell carcinoma: a case report and review of the literature

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Shahani Sadeka

2010-08-01

Full Text Available Abstract Background Cushing's Syndrome (CS which is caused by isolated Corticotropin-releasing hormone (CRH production, rather than adrenocorticotropin (ACTH production, is extremely rare. Methods We describe the clinical presentation, course, laboratory values and pathologic findings of a patient with isolated ectopic CRH causing CS. We review the literature of the types of tumors associated with this unusual syndrome and the behavior of these tumors by endocrine testing. Results A 56 year old woman presented with clinical and laboratory features consistent with ACTH-dependent CS. Pituitary imaging was normal and cortisol did not suppress with a high dose dexamethasone test, consistent with a diagnosis of ectopic ACTH. CT imaging did not reveal any discrete lung lesions but there were mediastinal and abdominal lymphadenopathy and multiple liver lesions suspicious for metastatic disease. Laboratory testing was positive for elevated serum carcinoembryonic antigen and the neuroendocrine marker chromogranin A. Serum markers of carcinoid, medullary thyroid carcinoma, and pheochromocytoma were in the normal range. Because the primary tumor could not be identified by imaging, biopsy of the presumed metastatic liver lesions was performed. Immunohistochemistry was consistent with a neuroendocrine tumor, specifically small cell carcinoma. Immunostaining for ACTH was negative but was strongly positive for CRH and laboratory testing revealed a plasma CRH of 10 pg/ml (normal 0 to 10 pg/ml which should have been suppressed in the presence of high cortisol. Conclusions This case illustrates the importance of considering the ectopic production of CRH in the differential diagnosis for presentations of ACTH-dependent Cushing's Syndrome.

Aerosols and splatter in dentistry: a brief review of the literature and infection control implications.

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Harrel, Stephen K; Molinari, John

2004-04-01

Aerosols and droplets are produced during many dental procedures. With the advent of the droplet-spread disease severe acute respiratory syndrome, or SARS, a review of the infection control procedures for aerosols is warranted. The authors reviewed representative medical and dental literature for studies and reports that documented the spread of disease through an airborne route. They also reviewed the dental literature for representative studies of contamination from various dental procedures and methods of reducing airborne contamination from those procedures. The airborne spread of measles, tuberculosis and SARS is well-documented in the medical literature. The dental literature shows that many dental procedures produce aerosols and droplets that are contaminated with bacteria and blood. These aerosols represent a potential route for disease transmission. The literature also documents that airborne contamination can be minimized easily and inexpensively by layering several infection control steps into the routine precautions used during all dental procedures. In addition to the routine use of standard barriers such as masks and gloves, the universal use of preprocedural rinses and high-volume evacuation is recommended.

Carpal tunnel syndrome and the "double crush" hypothesis: a review and implications for chiropractic

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Russell Brent S

2008-04-01

Full Text Available Abstract Upton and McComas claimed that most patients with carpal tunnel syndrome not only have compressive lesions at the wrist, but also show evidence of damage to cervical nerve roots. This "double crush" hypothesis has gained some popularity among chiropractors because it seems to provide a rationale for adjusting the cervical spine in treating carpal tunnel syndrome. Here I examine use of the concept by chiropractors, summarize findings from the literature, and critique several studies aimed at supporting or refuting the hypothesis. Although the hypothesis also has been applied to nerve compressions other than those leading to carpal tunnel syndrome, this discussion mainly examines the original application – "double crush" involving both cervical spinal nerve roots and the carpal tunnel. I consider several categories: experiments to create double crush syndrome in animals, case reports, literature reviews, and alternatives to the original hypothesis. A significant percentage of patients with carpal tunnel syndrome also have neck pain or cervical nerve root compression, but the relationship has not been definitively explained. The original hypothesis remains controversial and is probably not valid, at least for sensory disturbances, in carpal tunnel syndrome. However, even if the original hypothesis is importantly flawed, evaluation of multiple sites still may be valuable. The chiropractic profession should develop theoretical models to relate cervical dysfunction to carpal tunnel syndrome, and might incorporate some alternatives to the original hypothesis. I intend this review as a starting point for practitioners, educators, and students wishing to advance chiropractic concepts in this area.

Rhinitis and pregnancy: literature review

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Fábio Azevedo Caparroz

2016-02-01

Full Text Available ABSTRACT INTRODUCTION: There is a controversy concerning the terminology and definition of rhinitis in pregnancy. Gestational rhinitis is a relatively common condition, which has drawn increasing interest in recent years due to a possible association with maternal obstructive sleep apnea syndrome (OSAS and unfavorable fetal outcomes. OBJECTIVE: To review the current knowledge on gestacional rhinitis, and to assess its evidence. METHODS: Structured literature search. RESULTS: Gestational rhinitis and rhinitis "during pregnancy" are somewhat similar conditions regarding their physiopathology and treatment, but differ regarding definition and prognosis. Hormonal changes have a presumed etiological role, but knowledge about the physiopathology of gestational rhinitis is still lacking. Management of rhinitis during pregnancy focuses on the minimal intervention required for symptom relief. CONCLUSION: As it has a great impact on maternal quality of life, both the otorhinolaryngologist and the obstetrician must be careful concerning the early diagnosis and treatment of gestational rhinitis, considering the safety of treatment measures and drugs and their current level of evidence.

Arterial hypertension in Turner syndrome: a review of the literature and a practical approach for diagnosis and treatment.

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De Groote, Katya; Demulier, Laurent; De Backer, Julie; De Wolf, Daniel; De Schepper, Jean; Tʼsjoen, Guy; De Backer, Tine

2015-07-01

Turner syndrome is a rare chromosomal disorder with complete or partial absence of one X chromosome that only occurs in women. Clinical presentation is variable, but congenital and acquired cardiovascular diseases are frequently associated diseases that add significantly to the increased morbidity and mortality in Turner syndrome patients. Arterial hypertension is reported in 13-58% of adult Turner syndrome patients and confers an increased risk for stroke and aortic dissection. Hypertension can be present from childhood on and is reported in one-quarter of the paediatric Turner syndrome patients. This article reviews the prevalence and cause of arterial hypertension in Turner syndrome and describes the relationship between blood pressure, aortic dilation and increased cardiovascular risk. We compare current treatment strategies and also propose an integrated practical approach for the diagnosis and treatment of hypertension in Turner syndrome applicable in daily practice.

Public dialogues on flood risk communication: Literature review : Literature review

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Orr, Paula; Forrest, Steven; Brooks, Katya; Twigger-Ross, Clare

2015-01-01

This literature review summarises the state of knowledge on communicating the risk of flooding to the public as of January 2014. The review considers how different audiences respond to risk communication and the factors which influence that response. The current systems and techniques for flood risk

A literature review of idea management

DEFF Research Database (Denmark)

Jensen, Anna Rose Vagn

2012-01-01

The objective of the paper is primarily to conduct a state-of-the-art literature review of Idea Management and secondary to point out unanswered questions which are left behind in the reviewed literature. Scientific knowledge is primarily represented in innovation management literature but also...... considerably in literature on software and IT. On the background of the literature review, there are some weaknesses in the literature to be considered. These weaknesses concern the understanding of how people interact with idea management in their daily work practices and how different types of ideas...

Antenatal Bartter syndrome presenting as hyperparathyroidism with hypercalcemia and hypercalciuria: a case report and review.

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Gross, Itai; Siedner-Weintraub, Yael; Simckes, Ari; Gillis, David

2015-07-01

Antenatal type I Bartter syndrome (ABS) is usually identified by the presence of polyhydramnios, premature delivery, hypokalemia, metabolic alkalosis, hypercalciuria, and nephrocalcinosis caused by mutations in the Na-K-2Cl cotransporter (NKCC2)-encoding SLC12A1 gene. In this report, we describe a novel presentation of this syndrome with hypercalcemic hypercalciuric hyperparathyroidism, and review the literature of the variable atypical presentations of ABS.

Movement and Other Neurodegenerative Syndromes in Patients with Systemic Rheumatic Diseases: A Case Series of 8 Patients and Review of the Literature.

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Menezes, Rikitha; Pantelyat, Alexander; Izbudak, Izlem; Birnbaum, Julius

2015-08-01

Patients with rheumatic diseases can present with movement and other neurodegenerative disorders. It may be underappreciated that movement and other neurodegenerative disorders can encompass a wide variety of disease entities. Such disorders are strikingly heterogeneous and lead to a wider spectrum of clinical injury than seen in Parkinson's disease. Therefore, we sought to stringently phenotype movement and other neurodegenerative disorders presenting in a case series of rheumatic disease patients. We integrated our findings with a review of the literature to understand mechanisms which may account for such a ubiquitous pattern of clinical injury.Seven rheumatic disease patients (5 Sjögren's syndrome patients, 2 undifferentiated connective tissue disease patients) were referred and could be misdiagnosed as having Parkinson's disease. However, all of these patients were ultimately diagnosed as having other movement or neurodegenerative disorders. Findings inconsistent with and more expansive than Parkinson's disease included cerebellar degeneration, dystonia with an alien-limb phenomenon, and nonfluent aphasias.A notable finding was that individual patients could be affected by cooccurring movement and other neurodegenerative disorders, each of which could be exceptionally rare (ie, prevalence of ∼1:1000), and therefore with the collective probability that such disorders were merely coincidental and causally unrelated being as low as ∼1-per-billion. Whereas our review of the literature revealed that ubiquitous patterns of clinical injury were frequently associated with magnetic resonance imaging (MRI) findings suggestive of a widespread vasculopathy, our patients did not have such neuroimaging findings. Instead, our patients could have syndromes which phenotypically resembled paraneoplastic and other inflammatory disorders which are known to be associated with antineuronal antibodies. We similarly identified immune-mediated and inflammatory markers of injury

Refeeding syndrome or refeeding hypophosphatemia: a systematic review of cases.

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Skipper, Annalynn

2012-02-01

Nutrition support clinicians refer to the abnormalities in laboratory data and changes in clinical signs and symptoms that follow refeeding of starved or malnourished patients as refeeding syndrome. Theoretical descriptions of refeeding syndrome include a complex and extensive list of changes, such as hypophosphatemia, hypomagnesemia, hypokalemia, hyponatremia, hypocalcemia, hyperglycemia, and vitamin deficiency--all of which are accompanied by clinical signs and symptoms. In practice, clinicians see asymptomatic refeeding hypophosphatemia more often than a full-blown syndrome with multiple laboratory and clinical abnormalities. Confusion results because there is no widely accepted or uniformly applied set of defining characteristics for diagnosing refeeding syndrome. To gain insight into the clinical characteristics of refeeding syndrome described in the literature, a systematic review of reported cases and case series was conducted. Since 2000, 20 authors described 27 cases that contained sufficient data for review. Hypophosphatemia occurred in 26 patients (96%). While 19 patients (71%) experienced at least 1 other laboratory abnormality, only 14 (51%) exhibited a consistent pattern of abnormally low phosphorus and magnesium levels. Seven patients had hypocalcemia (26%), and hyponatremia was reported in 3 patients (11%). There were no reports of hyperglycemia. Mean data reported in case series containing data from 63 patients showed that hypophosphatemia was a consistent finding but that other abnormalities were not consistently identified. Findings suggest that refeeding hypophosphatemia is not accompanied by a consistent pattern of biochemical or clinical abnormalities among case reports or case series of patients reported to have refeeding syndrome.

Goldenhar Syndrome: Review of Literature and A Case Report

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Anusha Rangare Lakshman

2017-07-01

Full Text Available Goldenhar syndrome is a rare congenital anomaly involving the first and second branchial arches. It has been reported with the incidence between 1:3500 and 1:5600, with a male: female ratio of 3:2. The exact etiology is unknown. Most of the cases have been sporadic. This paper presents a rare case of Goldenhar syndrome in a 6 year old boy reported to us for the fabrication of removable ear prosthesis for esthetic purpose.

Association of Down's syndrome and water fluoride level: a systematic review of the evidence

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McDonagh Marian

2001-07-01

Full Text Available Abstract Background A review of the safety and efficacy of drinking water fluoridation was commissioned by the UK Department of Health to investigate whether the evidence supported a beneficial effect of water fluoridation and whether there was any evidence of adverse effects. Down's syndrome was one of the adverse effects reported. The aim of this review is to examine the evidence for an association between water fluoride level and Down's syndrome. Methods A systematic review of research. Studies were identified through a comprehensive literature search, scanning citations and online requests for papers. Studies in all languages which investigated the incidence of Down's syndrome in areas with different levels of fluoride in their water supplies were included. Study inclusion and quality was assessed independently by 2 reviewers. A qualitative analysis was conducted. Results Six studies were included. All were ecological in design and scored poorly on the validity assessment. The estimates of the crude relative risk ranged from 0.84 to 3.0. Four studies showed no significant associations between the incidence of Down's syndrome and water fluoride level and two studies by the same author found a significant (p Conclusions The evidence of an association between water fluoride level and Down's syndrome incidence is inconclusive.

Recurrent Thrombotic Thrombocytopenic Purpura-Like Syndrome as a Paraneoplastic Phenomenon in Malignant Peritoneal Mesothelioma: A Case Report and Review of the Literature

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Francisco Socola

2012-01-01

Full Text Available We report the case of an African American male with no significant past medical history presenting with recurrent, rapidly relapsing episodes of thrombotic thrombocytopenic purpura (TTP despite aggressive treatment with several lines of treatment. Incidentally, these episodes were associated with severe abdominal pain which eventually developed into acute abdomen and prompted exploratory laparotomy, revealing diffuse carcinomatosis with a tumor located on the left pelvis that was encasing the distal sigmoid colon. Pathology made a final diagnosis of peritoneal mesothelioma. TTP-like syndrome (TTP-LS has been described as a paraneoplastic phenomenon in several malignancies but never before in the setting of malignant mesothelioma. Paraneoplastic TTP-like syndrome has historically been associated with a dismal prognosis and particular clinical and laboratory abnormalities described in this paper. It is of utmost importance to make a prompt determination whether TTP is idiopathic or secondary to an underlying condition because of significant differences in their prognosis, treatment, and response. This paper also reviews the current literature regarding this challenging condition.

Metabolic Syndrome in Schizophrenia: A Non‑systematic Review

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Marta Nascimento

2012-12-01

Full Text Available Background: The link between mental illness and metabolic disturbances has been recognized since the beginning of the last century. The debate concerning medical morbidity in schizophrenia intensified during the last twenty years, especially after the introduction of atypical antipsychotics. Aims: To highlight some features of the metabolic syndrome in this population, specifically epidemiological data, underlying mechanisms and antipsychotic therapy. Methods: Non‑systematic review of literature. Results and Conclusions: Despite the different criteria used for the definition of metabolic syndrome, it is clear today that the schizophrenic population has the highest rate of metabolic syndrome. Additionally, the prevalence of the metabolic syndrome in this population demonstrates a geographical distribution similar to the general population. Although it hasn’t been recognized for years, schizophrenic patients’ vulnerability to develop metabolic disturbances isn’t entirely related to antipsychotic therapy. Actually, it results from an interaction of multiple factors, including hereditary, genetic, biochemical and environmental ones (which include antipsychotic therapy. Moreover, they are not exclusively explained by weight gain. Metabolic disturbances are one of the main concerns related to general psychopharmacology. The differences between typical and atypical antipsychotics in terms of metabolic syndrome are not completely established. However, clozapine and olanzapine are recognized to have the worst metabolic profile, amongst all atypical antipsychotics.

Metabolic Syndrome in Schizophrenia: A Non‑systematic Review

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Marta Nascimento

2013-11-01

Full Text Available Background: The link between mental illness and metabolic disturbances has been recognized since the beginning of the last century. The debate concerning medical morbidity in schizophrenia intensified during the last twenty years, especially after the introduction of atypical antipsychotics. Aims: To highlight some features of the metabolic syndrome in this population, specifically epidemiological data, underlying mechanisms and antipsychotic therapy. Methods: Non‑systematic review of literature. Results and Conclusions: Despite the different criteria used for the definition of metabolic syndrome, it is clear today that the schizophrenic population has the highest rate of metabolic syndrome. Additionally, the prevalence of the metabolic syndrome in this population demonstrates a geographical distribution similar to the general population. Although it hasn’t been recognized for years, schizophrenic patients’ vulnerability to develop metabolic disturbances isn’t entirely related to antipsychotic therapy. Actually, it results from an interaction of multiple factors, including hereditary, genetic, biochemical and environmental ones (which include antipsychotic therapy. Moreover, they are not exclusively explained by weight gain. Metabolic disturbances are one of the main concerns related to general psychopharmacology. The differences between typical and atypical antipsychotics in terms of metabolic syndrome are not completely established. However, clozapine and olanzapine are recognized to have the worst metabolic profile, amongst all atypical antipsychotics.

Literature Reviews and the Hermeneutic Circle

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Boell, Sebastian K.; Cecez-Kecmanovic, Dubravka

2010-01-01

Conducting a literature review is a vital part of any research. Library and information science (LIS) professionals often play a central role in supporting academics in their efforts to locate relevant publications and in teaching novice researchers skills associated with literature reviews. This paper examines literature review processes with the…

Recurrent twin-twin transfusion syndrome after selective fetoscopic laser photocoagulation: a systematic review of the literature.

LENUS (Irish Health Repository)

Walsh, C A

2012-11-01

Selective fetoscopic laser photocoagulation (SFLP) is now the treatment of choice for twin-twin transfusion syndrome (TTTS). The incidence of recurrent TTTS following SFLP has been inconsistently reported across different studies. We performed a systematic review of TTTS recurrence following SFLP.

WS1 gene mutation analysis of Wolfram syndrome in a Chinese patient and a systematic review of literatures.

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Yu, Guang; Yu, Man-li; Wang, Jia-feng; Gao, Cong-rong; Chen, Zhong-jin

2010-10-01

Wolfram syndrome is a rare hereditary disease characterized by diabetes mellitus and optic atrophy. The outcome of this disease is always poor. WFS1 gene mutation is the main cause of this disease. A patient with diabetes mellitus, diabetes insipidus, renal tract disorder, psychiatric abnormality, and cataract was diagnosed with Wolfram syndrome. Mutations in open reading frame (ORF) of WFS1 gene was analyzed by sequencing. Mutations in WFS1 gene was also summarized by a systematic review in Pubmed and Chinese biological and medical database. Sequencing of WFS1 gene in this patient showed a new mutation, 1962G>A, and two other non-sense mutations, 2433A>G and 2565G>A. Systematic review included 219 patients in total and identified 172 WFS1 gene mutations, most of which were located in Exon 8. These mutations in WFS1 gene might be useful in prenatal diagnosis of Wolfram syndrome.

Post-breast surgery pain syndrome: establishing a consensus for the definition of post-mastectomy pain syndrome to provide a standardized clinical and research approach - a review of the literature and discussion.

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Waltho, Daniel; Rockwell, Gloria

2016-09-01

Post-mastectomy pain syndrome (PMPS) is a frequent complication of breast surgery. There is currently no standard definition for this chronic pain syndrome. The purpose of this review was to establish a consensus for defining PMPS by identifying the various elements included in the definitions and how they vary across the literature, determining how these definitions affect the methodological components therein, and proposing a definition that appropriately encompasses all of the appropriate elements. We searched PubMed to retrieve all studies and case reports on PMPS, and we analyzed definitions of PMPS, inclusion/exclusion criteria, and methods of measuring PMPS. Twenty-three studies were included in this review. We identified 7 independent domains for defining PMPS: surgical breast procedure, neuropathic nature, pain of at least moderate intensity, protracted duration, frequent symptoms, appropriate location of the symptoms and exacerbation with movement. These domains were used with varying frequency. Inclusion/exclusion criteria and methods for assessing PMPS also varied markedly. To prevent future discrepancies in both the clinical and research settings, we propose a new and complete definition based on the results of our review: PMPS is pain that occurs after any breast surgery; is of at least moderate severity; possesses neuropathic qualities; is located in the ipsilateral breast/chest wall, axilla, and/or arm; lasts at least 6 months; occurs at least 50% of the time; and may be exacerbated by movements of the shoulder girdle.

Butterfly vertebra. A case report and a short review of the literature.

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Kapetanakis, S; Giovannopoulou, E; Nastoulis, E; Demetriou, T

2016-01-01

A butterfly vertebra is a rare congenital anomaly, encountered as isolated finding or as part of syndromic diseases. We report a case of a 40-year- old female presenting with low back pain and sciatica due to 'butterfly' dysplasia of the first sacral vertebra. This novel case includes posterolateral displacement of the completely separated hemivertebrae, causing left lateral recess stenosis and compression of S1 nerve root. Additionally, we conducted a short review of the literature. Few cases are reported in literature. Only one refers to a sacral vertebra. There is no previous case of a butterfly vertebra that accounts for narrowing of the lateral recess and associated radiculopathy.

[Intelligent systems tools in the diagnosis of acute coronary syndromes: A systemic review].

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Sprockel, John; Tejeda, Miguel; Yate, José; Diaztagle, Juan; González, Enrique

2017-03-27

Acute myocardial infarction is the leading cause of non-communicable deaths worldwide. Its diagnosis is a highly complex task, for which modelling through automated methods has been attempted. A systematic review of the literature was performed on diagnostic tests that applied intelligent systems tools in the diagnosis of acute coronary syndromes. A systematic review of the literature is presented using Medline, Embase, Scopus, IEEE/IET Electronic Library, ISI Web of Science, Latindex and LILACS databases for articles that include the diagnostic evaluation of acute coronary syndromes using intelligent systems. The review process was conducted independently by 2 reviewers, and discrepancies were resolved through the participation of a third person. The operational characteristics of the studied tools were extracted. A total of 35 references met the inclusion criteria. In 22 (62.8%) cases, neural networks were used. In five studies, the performances of several intelligent systems tools were compared. Thirteen studies sought to perform diagnoses of all acute coronary syndromes, and in 22, only infarctions were studied. In 21 cases, clinical and electrocardiographic aspects were used as input data, and in 10, only electrocardiographic data were used. Most intelligent systems use the clinical context as a reference standard. High rates of diagnostic accuracy were found with better performance using neural networks and support vector machines, compared with statistical tools of pattern recognition and decision trees. Extensive evidence was found that shows that using intelligent systems tools achieves a greater degree of accuracy than some clinical algorithms or scales and, thus, should be considered appropriate tools for supporting diagnostic decisions of acute coronary syndromes. Copyright © 2017 Instituto Nacional de Cardiología Ignacio Chávez. Publicado por Masson Doyma México S.A. All rights reserved.

Anxiety Disorders in Williams Syndrome Contrasted with Intellectual Disability and the General Population: A Systematic Review and Meta-Analysis

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Royston, R.; Howlin, P.; Waite, J.; Oliver, C.

2017-01-01

Individuals with specific genetic syndromes associated with intellectual disability (ID), such as Williams syndrome (WS), are at increased risk for developing anxiety disorders. A systematic literature review identified sixteen WS papers that could generate pooled prevalence estimates of anxiety disorders for WS. A meta-analysis compared these…

Trousseau's Syndrome Caused by Intrahepatic Cholangiocarcinoma: An Autopsy Case Report and Literature Review

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Takashi Yuri

2014-05-01

Full Text Available An autopsy case report of Trousseau's syndrome caused by intrahepatic cholangiocarcinoma is presented, and seven previously reported cases are reviewed. A 73-year-old woman experiencing light-headedness and dementia of unknown cause for 6 months developed severe hypotonia. A hypointense lesion compatible with acute cerebral infarction was detected by magnetic resonance imaging. Abdominal computed tomography revealed an ill-defined large liver mass in the right lobe. The mass was not further investigated because of the patient's poor condition. She died of multiple organ failure, and an autopsy was conducted. Postmortem examination revealed intrahepatic cholangiocarcinoma, fibrous vegetations on the mitral valves and multiple thromboemboli in the cerebrum, spleen and rectum. Trousseau's syndrome is defined as an idiopathic thromboembolism in patients with undiagnosed or concomitantly diagnosed malignancy. This syndrome is encountered frequently in patients with mucin-producing carcinomas, while the incidence in patients with intrahepatic cholangiocarcinoma is uncommon. We found that tissue factor and mucin tumor marker (CA19-9, CA15-3 and CA-125 expression in cancer cells may be involved in the pathogenesis of thromboembolism. A patient with unexplained thromboembolism may have occult visceral malignancy; thus, mucin tumor markers may indicate the origin of a mucin-producing carcinoma, and postmortem examination may play an important role in revealing the hidden malignancy.

Goldenhar syndrome: Report of two cases with review of literature

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Ananya Madiyal

2018-01-01

Full Text Available Goldenhar syndrome consists of a varied group of malformations that can involve multiple systems of the body. It is believed to be a variant of hemifacial microsomia with ocular and vertebral involvement. Characteristic findings, such as hypoplasia of one half of the face, epibulbar dermoids, ear tags, and spinal cord defects, warrant the name occulo-auriculo-vertebral dysplasia. The syndrome occurs due to imbalance in cells during the blastogenesis period of embryo formation. It is found to involve the derivatives of first and second branchial arches. The condition is apparent at birth, but the phenotype can vary greatly in its severity depending on the activation and expression of the defective gene. Reported here are detailed clinical and radiographic features of two sporadic cases of Goldenhar syndrome in young males. This work mainly highlights the various theories of etiopathogenesis as well as step-wise management protocol for patients diagnosed with the syndrome.

Pregnancy and Delivery in Ehlers-Danlos Syndrome (Hypermobility Type: Review of the Literature

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Indranil Dutta

2011-01-01

Full Text Available Ehlers-Danlos syndrome (EDS is a group of connective tissue disorders which are divided into various distinguishable phenotypes. The type of EDS determines the potential obstetric complications. Due to the spectrum of clinical manifestation and overlap between phenotypes, there are no standardised obstetric management guidelines. Existing literature illustrates different obstetric management in hypermobility type of EDS, including uneventful term vaginal deliveries as well as preterm cesarean section deliveries. This paper discusses obstetric management of a woman with EDS hypermobility type. Cesarean section was deemed the most appropriate delivery method in this patient due to the possible complications including risk of joint dislocation and pain morbidity. No obstetric complications were experienced, and good maternal and neonatal outcomes were achieved.

Systematic review: Complementary and alternative medicine in the irritable bowel syndrome.

LENUS (Irish Health Repository)

Hussain, Z

2012-02-03

BACKGROUND: Complementary and alternative medical therapies and practices are widely employed in the treatment of the irritable bowel syndrome. AIM: To review the usage of complementary and alternative medicine in the irritable bowel syndrome, and to assess critically the basis and evidence for its use. METHODS: A systematic review of complementary and alternative medical therapies and practices in the irritable bowel syndrome was performed based on literature obtained through a Medline search. RESULTS: A wide variety of complementary and alternative medical practices and therapies are commonly employed by irritable bowel syndrome patients both in conjunction with and in lieu of conventional therapies. As many of these therapies have not been subjected to controlled clinical trials, some, at least, of their efficacy may reflect the high-placebo response rate that is characteristic of irritable bowel syndrome. Of those that have been subjected to clinical trials most have involved small poor quality studies. There is, however, evidence to support efficacy for hypnotherapy, some forms of herbal therapy and certain probiotics in irritable bowel syndrome. CONCLUSIONS: Doctors caring for irritable bowel syndrome patients need to recognize the near ubiquity of complementary and alternative medical use among this population and the basis for its use. All complementary and alternative medicine is not the same and some, such as hypnotherapy, forms of herbal therapy, specific diets and probiotics, may well have efficacy in irritable bowel syndrome. Above all, we need more science and more controlled studies; the absence of truly randomized placebo-controlled trials for many of these therapies has limited meaningful progress in this area.

Three Siblings with Prader-Willi Syndrome: Brief Review of Sleep and Prader-Willi Syndrome

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Arina Bingeliene

2015-01-01

Full Text Available Prader-Willi syndrome (PWS is a genetic disorder characterized by short stature, mental retardation, hypotonia, functionally deficient gonads, and uncontrolled appetite leading to extreme obesity at an early age. Patients with this condition require multidisciplinary medical care, which facilitates a significant improvement in quality of life. PWS is the first human disorder to be attributed to genomic imprinting. Prevalence varies in the literature, ranging from 1 in 8,000 in the Swedish population to 1 in 54,000 in the United Kingdom. Rarely, the genetic mechanism responsible for Prader-Willi syndrome can be inherited. We report a highly unique case of three siblings who share this condition. This report describes a case of two brothers and one half sister with PWS. All three siblings have sleep-related complaints. The sister died at the age of 24 years in her sleep, with the cause of death reported as obstructive sleep apnea. The outcome was positive in both of the brothers’ cases as a result of professional medical care and specific tailored recommendations implemented by their mother. A review of the relevant literature vis-à-vis sleep and PWS is provided.

Amyotrophic Lateral Sclerosis and Myasthenia Gravis Overlap Syndrome: A Review of Two Cases and the Associated Literature

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Hongfei Tai

2017-05-01

Full Text Available ObjectiveTo describe the characteristics of patients with amyotrophic lateral sclerosis (ALS and myasthenia gravis (MG overlap syndrome and explore the relationship between the two diseases.MethodsWe conducted a search of medical records at Peking Union Medical University Hospital from 1983 to 2015 for coexistence of ALS and MG and searched the PubMed database for all literature describing ALS and MG overlap syndrome published through December 2016. We analyzed the clinical and neurophysiological characteristics of patients by groups according to strict diagnostic criteria.ResultsWe presented 2 patients in our database with combined ALS and MG, and together with 25 cases reported in the literature, the patients were divided into 4 groups: 12 patients with MG followed by ALS, 8 patients with ALS followed by MG, 5 ALS patients with false-positive anti-acetylcholine receptor, and the other 2 ALS patients with only myasthenia symptoms. Most patients had limb onset ALS, and myasthenia symptoms mainly affected ocular and bulbar muscles. Clinical and neurophysiological characteristics were summarized.ConclusionThese findings support the conclusion that immunological mechanisms and alterations in the neuromuscular junction are related to ALS pathogenesis.

Rheumatic Fever Associated with Antiphospholipid Syndrome: Systematic Review

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Felipe da Silva

2014-01-01

Full Text Available Objective. To evaluate the clinical associations between rheumatic fever and antiphospholipid syndrome and the impact of coexistence of these two diseases in an individual. Methods. Systematic review in electronics databases, regarding the period from 1983 to 2012. The keywords: “Rheumatic Fever,” “Antiphospholipid Syndrome,” and “Antiphospholipid Antibody Syndrome” are used. Results. were identified 11 cases described in the literature about the association of rheumatic fever and antiphospholipid syndrome. Clinical presentation of rheumatic fever was characterized by the predominance of carditis (11/11 and chorea (7/11. Regarding the manifestations of APS, the stroke was observed in 7/11 (63.6%, with one of them having probable embolic origin. Conclusion. The present study brings the information that the association between APS and RF is quite rare, however, is of great clinical importance. Doctors who deal with the RF should include in their differential diagnosis the APS, especially in the presence of stroke in patients with RF and whose echocardiogram does not show intracavitary thrombi.

Syndromic Hirschsprung's disease and associated congenital heart disease: a systematic review.

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Duess, Johannes W; Puri, Prem

2015-08-01

Hirschsprung's disease (HD) occurs as an isolated phenotype in 70% of infants and is associated with additional congenital anomalies or syndromes in approximately 30% of patients. The cardiac development depends on neural crest cell proliferation and is closely related to the formation of the enteric nervous system. HD associated with congenital heart disease (CHD) has been reported in 5-8% of cases, with septation defects being the most frequently recorded abnormalities. However, the prevalence of HD associated with CHD in infants with syndromic disorders is not well documented. This systematic review was designed to determine the prevalence of CHD in syndromic HD. A systematic review of the literature using the keywords "Hirschsprung's disease", "aganglionosis", "congenital megacolon", "congenital heart disease" and "congenital heart defect" was performed. Resulting publications were reviewed for epidemiology and morbidity. Reference lists were screened for additional relevant studies. A total of fifty-two publications from 1963 to 2014 reported data on infants with HD associated with CHD. The overall reported prevalence of HD associated with CHD in infants without chromosomal disorders was 3%. In infants with syndromic disorders, the overall prevalence of HD associated with CHD ranged from 20 to 80 % (overall prevalence 51%). Septation defects were recorded in 57% (atrial septal defects in 29%, ventricular septal defects in 32%), a patent ductus arteriosus in 39%, vascular abnormalities in 16%, valvular heart defects in 4% and Tetralogy of Fallot in 7%. The prevalence of HD associated with CHD is much higher in infants with chromosomal disorders compared to infants without associated syndromes. A routine echocardiogram should be performed in all infants with syndromic HD to exclude cardiac abnormalities.

Long-term consequences of the posterior reversible encephalopathy syndrome in eclampsia and preeclampsia: a review of the obstetric and nonobstetric literature.

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Postma, Ineke R; Slager, Sjoerdtje; Kremer, Hubertus P H; de Groot, Jan Cees; Zeeman, Gerda G

2014-05-01

This review summarizes the long-term consequences of the posterior reversible encephalopathy syndrome (PRES) that have been described in the obstetric literature (eclampsia and preeclampsia) and compares these with data from the nonobstetric literature. Preeclampsia is characterized by new-onset hypertension and proteinuria after the 20th week of pregnancy. Neurological symptoms include headache; visual deficits; confusion; seizures; and, in the most severe cases, intracranial hemorrhage. Eclampsia is an acute cerebral complication of preeclampsia, defined as the occurrence of tonic-clonic seizures in pregnant or recently postpartum women. With severe preeclampsia, in conjunction with neurological symptoms, or eclampsia, neuroimaging changes consistent with PRES can be seen. Posterior reversible encephalopathy syndrome is a specific clinicoradiological syndrome presenting with headaches, visual impairment, seizures, and altered mental status. Characteristic neuroimaging features are consistent with cerebral edema predominantly in the parietal and occipital lobes. In addition to preeclampsia/eclampsia, PRES has been associated with various conditions in the nonobstetric population, that is, severe hypertension, transplantation, or autoimmune disease, in combination with immunosuppressive therapy or high-dose chemotherapy for various malignant conditions. Long-term sequelae of both preeclampsia/eclampsia and other PRES-related conditions are poorly described. After eclampsia or preeclampsia, nonspecific white matter lesions may be found on magnetic resonance imaging, which may or may not be related to the PRES episode. Previously (pre)eclamptic women report cognitive failures; however, no neurocognitive impairment has been shown so far. Various nonobstetric PRES-related conditions have been described with long-term neuroimaging abnormalities as well as cognitive problems, epilepsy, or visual impairment. Although no firm conclusions can be drawn because of the

Structured Literature Review of digital disruption literature

DEFF Research Database (Denmark)

Vesti, Helle; Rosenstand, Claus Andreas Foss; Gertsen, Frank

2018-01-01

Digital disruption is a term/phenomenon frequently appearing in innovation management literature. However, no academic consensus exists as to what it entails; conceptual nor theoretical. We use the SLR-method (Structured Literature Review) to investigate digital disruption literature. A SLR......-study conducted in 2017 revealed some useful information on how disruption and digital disruption literature has developed over a specific period. However, this study was less representative of papers addressing digital disruption; which is the in-depth subject of this paper. To accommodate this, we intend...... to conduct a similar SLR-study assembling a body literature having digital disruption as the only common denominator...

Cotard's syndrome: Two case reports and a brief review of literature.

Science.gov (United States)

Grover, Sandeep; Aneja, Jitender; Mahajan, Sonali; Varma, Sannidhya

2014-11-01

Cotard's syndrome is a rare neuropsychiatric condition in which the patient denies existence of one's own body to the extent of delusions of immortality. One of the consequences of Cotard's syndrome is self-starvation because of negation of existence of self. Although Cotard's syndrome has been reported to be associated with various organic conditions and other forms of psychopathology, it is less often reported to be seen in patients with catatonia. In this report we present two cases of Cotard's syndrome, both of whom had associated self-starvation and nutritional deficiencies and one of whom had associated catatonia.

Systematic literature review of the risk factors, comorbidities, and consequences of hypogonadism in men.

Science.gov (United States)

Zarotsky, V; Huang, M-Y; Carman, W; Morgentaler, A; Singhal, P K; Coffin, D; Jones, T H

2014-11-01

The objective of this review was to summarize the literature on the risk factors, comorbidities, and consequences of male hypogonadism, which is defined as a syndrome complex that includes biochemical confirmation of low testosterone (T) and the consistent symptoms and signs associated with low T. A systematic literature search was performed in PubMed/MEDLINE, EMBASE, Cochrane Library for articles published in the last 10 years on risk factors, comorbidities, and consequences of male hypogonadism. Of the 53 relevant studies identified, nine examined potential risk factors, 14 examined potential comorbidities, and 30 examined potential consequences of male hypogonadism. Based on studies conducted in Asia, Australia, Europe, and North & South America, the important factors that predicted and correlated with hypogonadism were advanced age, obesity, a diagnosis of metabolic syndrome (MetS), and a poor general health status. Diabetes mellitus was correlated with hypogonadism in most studies, but was not established as a risk factor. Although diseases, such as coronary heart disease, hypertension, stroke, and peripheral arterial disease did not predict hypogonadism, they did correlate with incident low T. The data reviewed on potential consequences suggest that low T levels may be linked to earlier all-cause and cardiovascular related mortality among men. This literature review suggests that men with certain factors, such as advanced age, obesity, MetS, and poor general health, are more likely to have and develop hypogonadism. Low levels of T may have important long-term negative health consequences. © 2014 American Society of Andrology and European Academy of Andrology.

[WHIM syndrome: a case report and literature review].

Science.gov (United States)

Chen, Xiao-juan; Yang, Wen-yu; Wang, Shu-chun; Guo, Ye; Liu, Fang; Qi, Ben-quan; Chang, Li-xian; Zhou, Jian-feng; An, Wen-bin; Wei, Wei; Wan, Yang; Zhu, Xiao-fan

2013-03-01

To study the clinical and laboratory characteristics of cases with warts, hypogammaglobulinemia, infections and myelokathexis (WHIM) syndrome. An 11-year-old boy was diagnosed as WHIM syndrome and CXCR4 gene mutation analysis was performed. Since 3 years of age, the patient had recurrent fever and persistent cough. Since 6 years of age, he had warts on his fingers, the warts increased gradually. His complete blood count showed: white blood cell (WBC) 0.65×10(9)/L, neutrophil 0.15×10(9)/L, hemoglobin 116 g/L, platelet 200×10(9)/L, reticulocyte 0.62%. Results of serum biochemical tests: total protein (TP) 72.2 g/L (reference value 60 - 80 g/L), albumin 20.4 g/L (reference value 20 - 35 g/L), gammaglobulin 20.4 g/L (reference value 20 - 35 g/L). IgG 5.56 g/L (reference value 7.51 - 15.6 g/L), IgA 0.48 g/L (reference value 0.82 - 4.53 g/L), IgM 0.29 g/L (reference value 0.46 - 3.04 g/L). Peripheral blood lymphocyte subsets: CD3(+)T lymphocyte 43.6% (reference value 64.01% - 75.95%), CD19(+)B lymphocyte 1.00% (reference value 9.02% - 14.1%). Bone marrow smears showed that many of the neutrophils had a reactive appearance, with cytoplasmic vacuolation. Most neutrophils had hypersegmentation with four or five nuclear lobules. In some cells, the filaments connecting the nuclear lobes were long. CXCR4 mutation was detected. WHIM syndrome is a rare immunodeficiency disorder with an autosomal-dominant pattern of inheritance. The disease is less progressive, and may accompany the patients' whole life.

Orofacial syndromes: A review

Directory of Open Access Journals (Sweden)

N Shyam Sunder

2011-01-01

Full Text Available A syndrome is a set of signs and symptoms that tend to occur together and reflect the presence of a particular disease or an increased chance of developing to a particular disease. There are numerous orofacial syndromes and a thorough knowledge of their manifestations and implications is pertinent in good oral health care delivery. The aim of this review is to describe collective esoteric knowledge, about various malformations and syndromes associated with orofacial region.

EAST/SeSAME syndrome - review of the literature and introduction of four new Latvian patients.

Science.gov (United States)

Marta, C; Ieva, M; Inna, I; Mareta, A; Sandra, K; Pereca, J; Janis, S; Dita, P; Jurgis, S

2018-05-03

EAST (Epilepsy, Ataxia, Sensorineural deafness, Tubulopathy) or SeSAME (Seizures, Sensorineural deafness, Ataxia, Mental retardation, and Electrolyte imbalance) syndrome is a rare autosomal recessive syndrome first described in 2009 independently by Bockenhauer and Scholl. It is caused by mutations in KCNJ10, which encodes Kir4.1, an inwardly rectifying K + channel found in the brain, inner ear, kidney and eye. To date, 16 mutations in at least 28 patients have been reported. In this paper, we review mutations causing EAST/SeSAME syndrome, clinical manifestations in detail, and efficacy of treatment in previously reported patients. We also report a new Latvian kindred with four patients. In contrast to the majority of previous reports, we found a progressive course of the disorder in terms of hearing impairment and neurologic deficit. The treatment is based on antiepileptic drugs, electrolyte replacement, hearing aids and mobility devices. Future research should concentrate on recognizing the lesions in the central nervous system to evaluate new potential diagnostic criteria and on formally evaluating intellectual disability. This article is protected by copyright. All rights reserved.

Guillain-Barré syndrome associated with monosialotetrahexosylganglioside: three cases study and literature review

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ZENG Ke-bin

2013-04-01

Full Text Available Background Monosialotetrahexosylganglioside (GM1 is a kind of ganglioside extracted from the neural cells of pig brain, which involves in the pathophysiological processes of neurogenesis, and plays an important role in neural formation, growth and differentiation. GM1 is widely used in the treatment for vascular brain injury and traumatic brain and spinal cord injury, promoting and protecting the recovery of nerve cells. Besides, it can improve the behavior disorders of patients with Parkinson's disease. However, as it is widely used in clinical practice, its adverse reaction has been gradually discovered. There is some evidence to suggest Guillain-Barré syndrome (GBS may occur after GM1 injection intravenously. Both clinical manifestations and possible mechanism of GBS associated with GM1 are unclear, and need further study. Methods Three cases of GBS associated with GM1 were clinically observed including cerebrospinal fluid (CSF testing and nerve conduction studies. These cases were analyzed and subjected to assessment with literature review. Results Three male patients (with the age 39-65 of GBS were observed after injection of GM1 intravenously. At 9-14 days, they developed weakness of all limbs and were unable to stand upright with decreased muscle tone in limbs and absent deep tendon reflexes, accompanied by dyspnea (1 case, albuminocytological dissociation (1 case and axonal degeneration of peripheral nerve (1 case. Conclusion GBS may occur occasionally in patients treated with GM1 injection intravenously for 9-14 days, and the prognosis is not favorable. The possible mechanism is that exogenous gangliosides could be immunogenic and may occasionally result in neural axonal degeneration.

Understanding Bartter syndrome and Gitelman syndrome.

Science.gov (United States)

Fremont, Oliver T; Chan, James C M

2012-02-01

We aim to review the clinical features of two renal tubular disorders characterized by sodium and potassium wasting: Bartter syndrome and Gitelman syndrome. Selected key references concerning these syndromes were analyzed, together with a PubMed search of the literature from 2000 to 2011. The clinical features common to both conditions and those which are distinct to each syndrome were presented. The new findings on the genetics of the five types of Bartter syndrome and the discrete mutations in Gitelman syndrome were reviewed, together with the diagnostic workup and treatment for each condition. Patients with Bartter syndrome types 1, 2 and 4 present at a younger age than classic Bartter syndrome type 3. They present with symptoms, often quite severe in the neonatal period. Patients with classic Bartter syndrome type 3 present later in life and may be sporadically asymptomatic or mildly symptomatic. The severe, steady-state hypokalemia in Bartter syndrome and Gitelman syndrome may abruptly become life-threatening under certain aggravating conditions. Clinicians need to be cognizant of such renal tubular disorders, and promptly treat at-risk patients.

Re-Viewing Literature in Hermeneutic Research

Directory of Open Access Journals (Sweden)

Elizabeth Smythe PhD, RN, RM

2012-02-01

Full Text Available In academia there seems to be a taken for granted assumption that there is one way to do a literature review. This paper argues that the manner of reviewing literature needs to be congruent with the particular research methodology. As an example, the authors explicate reviewing literature in hermeneutic research. The paper begins by discussing philosophical assumptions. The authors then offer personal accounts of their experiences of working with literature in ways that are congruent with hermeneutic methodology. It is argued that the key purpose of exploring literature in hermeneutic research is to provide context and provoke thinking. Literature, which can include anything that provokes thinking on the phenomenon of interest, becomes an essential dialogical partner from which scholarly thinking and new insights emerge. In conclusion distinguishing hallmarks of ways of working hermeneutically with literature are articulated

[Metabolic Syndrome and Bipolar Affective Disorder: A Review of the Literature].

Science.gov (United States)

Jaramillo, Carlos López; Mejía, Adelaida Castaño; Velásquez, Alicia Henao; Restrepo Palacio, Tomás Felipe; Zuluaga, Julieta Osorio

2013-09-01

Bipolar disorder (BD) is a chronic psychiatric disorder that is found within the first ten causes of disability and premature mortality. The metabolic syndrome (MS) is a group of risk factors (RF) that predispose to cardiovascular disease (CV), diabetes and early mortality. Both diseases generate high costs to the health system. Major studies have shown that MS has a higher prevalence in patients with mental disorders compared to the general population. The incidence of MS in BD is multifactorial, and due to iatrogenic, genetic, economic, psychological, and behavioral causes related to the health system. The most common RF found is these patients was an increased abdominal circumference, and it was found that the risk of suffering this disease was greater in women and Hispanic patients. As regards the increase in RF to develop a CV in patients with BD, there have been several explanations based on the risky behavior of patients with mental illness, included tobacco abuse, physical inactivity and high calorie diets. An additional explanation described in literature is the view of BD as a multisystemic inflammatory illness, supported by the explanation that inflammation is a crucial element in atherosclerosis, endothelial dysfunction, platelet rupture, and thrombosis. The pathophysiology of MS and BD include factors such as adrenal, thyroid and sympathetic nervous system dysfunction, as well as poor lifestyle and medication common in these patients. This article attempts to give the reader an overall view of the information published in literature to date, as regards the association between BD and MS. Copyright © 2013 Asociación Colombiana de Psiquiatría. Publicado por Elsevier España. All rights reserved.

Orthorexia nervosa: An integrative literature review of a lifestyle syndrome

Directory of Open Access Journals (Sweden)

Linn Håman

2015-08-01

Full Text Available Bratman first proposed orthorexia nervosa in the late 1990s, defining it an obsession with eating healthy food to achieve, for instance, improved health. Today, in the Swedish media, excessive exercising plays a central role in relation to orthorexia. A few review articles on orthorexia have been conducted; however, these have not focused on aspects of food and eating, sport, exercise, or a societal perspective. The overall aim of this study was to provide an overview and synthesis of what philosophies of science approaches form the current academic framework of orthorexia. Key questions were: What aspects of food and eating are related to orthorexia? What role do exercise and sports play in relation to orthorexia? In what ways are orthorexia contextualized? Consequently, the concept of healthism was used to discuss and contextualize orthorexia. The method used was an integrative literature review; the material covered 19 empirical and theoretical articles published in peer-reviewed journals. This review demonstrates a multifaceted nature of orthorexia research; this field has been examined from four different philosophies of science approaches (i.e., empirical-atomistic, empirical-atomistic with elements of empirical-holistic, empirical-holistic, and rational-holistic on individual, social, and societal levels. The majority of the articles followed an empirical-atomistic approach that focused on orthorexia as an individual issue, which was discussed using healthism. Our analysis indicates a need for (a more empirical-holistic research that applies interpretive qualitative methods and uses a social perspective of health, e.g., healthism and (b examining the role of sports and exercise in relation to orthorexia that takes the problematizing of “orthorexic behaviours” within the sports context into account.

Orthorexia nervosa: An integrative literature review of a lifestyle syndrome.

Science.gov (United States)

Håman, Linn; Barker-Ruchti, Natalie; Patriksson, Göran; Lindgren, Eva-Carin

2015-01-01

Bratman first proposed orthorexia nervosa in the late 1990s, defining it an obsession with eating healthy food to achieve, for instance, improved health. Today, in the Swedish media, excessive exercising plays a central role in relation to orthorexia. A few review articles on orthorexia have been conducted; however, these have not focused on aspects of food and eating, sport, exercise, or a societal perspective. The overall aim of this study was to provide an overview and synthesis of what philosophies of science approaches form the current academic framework of orthorexia. Key questions were: What aspects of food and eating are related to orthorexia? What role do exercise and sports play in relation to orthorexia? In what ways are orthorexia contextualized? Consequently, the concept of healthism was used to discuss and contextualize orthorexia. The method used was an integrative literature review; the material covered 19 empirical and theoretical articles published in peer-reviewed journals. This review demonstrates a multifaceted nature of orthorexia research; this field has been examined from four different philosophies of science approaches (i.e., empirical-atomistic, empirical-atomistic with elements of empirical-holistic, empirical-holistic, and rational-holistic) on individual, social, and societal levels. The majority of the articles followed an empirical-atomistic approach that focused on orthorexia as an individual issue, which was discussed using healthism. Our analysis indicates a need for (a) more empirical-holistic research that applies interpretive qualitative methods and uses a social perspective of health, e.g., healthism and (b) examining the role of sports and exercise in relation to orthorexia that takes the problematizing of "orthorexic behaviours" within the sports context into account.

Polycystic ovary syndrome and periodontal disease: Underlying links- A review

Directory of Open Access Journals (Sweden)

Sri Chandana Tanguturi

2018-01-01

Full Text Available Polycystic ovary syndrome (PCOS is the most common endocrine disorder among women of reproductive age, which negatively affects various health systems. There is an extensive literature regarding the association of PCOS and other systemic conditions such as diabetes mellitus, cardiovascular disease, and psychological disorders. However, there is a lack of literature in associating PCOS and periodontal disease. Hence, PubMed search was done for various articles related to PCOS and its association with other comorbidities, including periodontal diseases. Analysis was done and data were synthesized and compiled in a sequential and presentable paradigm. This literature review of the pathophysiological mechanisms linking the two diseases suggests a positive relation between the two comorbidities. However, multicenter studies, with larger sample sizes, are to be conducted to establish a clearer and stronger association.

Review article: the functional abdominal pain syndrome.

Science.gov (United States)

Sperber, A D; Drossman, D A

2011-03-01

Functional abdominal pain syndrome (FAPS) is a debilitating disorder with constant or nearly constant abdominal pain, present for at least 6 months and loss of daily functioning. To review the epidemiology, pathophysiology and treatment of FAPS. A literature review using the keywords: functional abdominal pain, chronic abdominal pain, irritable bowel syndrome and functional gastrointestinal disorders. No epidemiological studies have focused specifically on FAPS. Estimates of prevalence range from 0.5% to 1.7% and tend to show a female predominance. FAPS pathophysiology appears unique in that the pain is caused primarily by amplified central perception of normal visceral input, rather than by enhanced peripheral stimulation from abdominal viscera. The diagnosis of FAPS is symptom-based in accordance with the Rome III diagnostic criteria. These criteria are geared to identify patients with severe symptoms as they require constant or nearly constant abdominal pain with loss of daily function and are differentiated from IBS based on their non-association with changes in bowel habit, eating or other gut-related events. As cure is not feasible, the aims of treatment are reduced suffering and improved quality of life. Treatment is based on a biopsychosocial approach with a therapeutic patient-physician partnership at its base. Therapeutic options include central nonpharmacological and pharmacological modalities and peripheral modalities. These can be combined to produce an augmentation effect. Although few studies have assessed functional abdominal pain syndrome or its treatment specifically, the treatment strategies outlined in this paper appear to be effective. © 2011 Blackwell Publishing Ltd.

Concurrency of Guillain-Barre syndrome and acute transverse myelitis: a case report and review of literature.

Science.gov (United States)

Tolunay, Orkun; Çelik, Tamer; Çelik, Ümit; Kömür, Mustafa; Tanyeli, Zeynep; Sönmezler, Abdurrahman

2016-11-01

Guillain-Barré syndrome and acute transverse myelitis manifest as demyelinating diseases of the peripheral and central nervous system. Concurrency of these two disorders is rarely documented in literature. A 4-year-old girl presenting with cough, fever, and an impaired walking ability was admitted to hospital. She had no previous complaints in her medical history. A physical examination revealed lack of muscle strength of the lower extremities and deep tendon reflexes. MRI could not be carried out due to technical problems; therefore, both Guillain-Barré syndrome and acute transverse myelitis were considered for the diagnosis. Intravenous immunoglobulin treatment was started as first line therapy. Because this treatment did not relieve the patient's symptoms, spinal MRI was carried out on the fourth day of admission and demyelinating areas were identified. Based on the new findings, the patient was diagnosed with acute transverse myelitis, and high dose intravenous methylprednisolone therapy was started. Electromyography findings were consistent with acute polyneuropathy affecting both motor and sensory fibers. Therefore, the patient was diagnosed with concurrency of Guillain-Barré syndrome and acute transverse myelitis. Interestingly, while concurrency of these 2 disorders is rare, this association has been demonstrated in various recent publications. Progress in diagnostic tests (magnetic resonance imaging and electrophysiological examination studies) has enabled clinicians to establish the right diagnosis. The possibility of concurrent Guillain-Barré syndrome and acute transverse myelitis should be considered if recovery takes longer than anticipated.

Bing-Neel Syndrome: Illustrative Cases and Comprehensive Review of the Literature

OpenAIRE

Varettoni, Marzia; Defrancesco, Irene; Diamanti, Luca; Marchioni, Enrico; Farina, Lisa Maria; Pichiecchio, Anna

2017-01-01

The Bing-Neel syndrome is a rare neurological complication of Waldenström’s Macroglobulinemia which results from a direct involvement of central nervous system by malignant lymphoplasmacytic cells. The clinical suspicion of Bing-Neel syndrome may be difficult because neurologic symptoms are heterogeneous, non specific and sometimes underhand. A definitive diagnosis of Bing-Neel syndrome can be confidently made using brain and spinal cord magnetic resonance imaging as well as histopathology an...

Writing Your Successful Literature Review

Science.gov (United States)

Rewhorn, Sonja

2018-01-01

Literature reviews are undertaken by academics and students to collate, analyse, and critique the ideas and arguments presented in a range of research studies in order to understand where research boundaries are located, to identify areas where knowledge is missing or contested, and where future research may be undertaken. Literature reviews are…

[Posterior reversible encephalopathy syndrome after neurosurgery: A literature review].

Science.gov (United States)

Durán Paz, S; Moreno Casanova, I; Benatar-Haserfaty, J

2015-12-01

Posterior reversible encephalopathy syndrome is a clinical-radiological characterized by decreased level of consciousness, seizures, and visual disturbances, as well as radiologically ras brain edema, predominantly in parieto-occipital white matter regions. There are many situations that can trigger the disorder, including the administration of immunosuppressants, chemotherapy agents, hypertensive disorders, and sepsis. The case is described of a patient diagnosed with stage IV prostate adenocarcinoma, receiving chemotherapy, andundergoing a posterior reversible encephalopathy syndrome after surgery for resection of brain metastasis. Copyright © 2014 Sociedad Española de Anestesiología, Reanimación y Terapéutica del Dolor. Publicado por Elsevier España, S.L.U. All rights reserved.

Supernumerary teeth: case report and literature review

International Nuclear Information System (INIS)

Bolanos Lopez, Violeta

2008-01-01

Supernumerary teeth (ST) have been an anomaly of tooth development, this is refered to the increase in the number of pieces in the normal dentition. It can be unique, multiple, unilateral or bilateral, normal or altered form; appear erupted, impacted or retained. Both dentitions are affected, but is most common in the permanent. The literature review has covered and mentioned spanned supernumerary teeth, the definition, etiology, characteristics and classification according to number, position and shape; as diagnose, alterations or clinical sequelae - eruptive associated with them and possible treatments to be done when it occurs. The presence of mechanical accidents have been a frequent complication, within this, displacement of adjacent teeth has been the most common; is associated with different syndromes such as lip and palate cleft; however, they can not be related with pathologies; being mesiodens the most frequent. (author) [es

Literature Review of Multicultural Instrumentation

Science.gov (United States)

Sarraj, Huda; Carter, Stacy; Burley, Hansel

2015-01-01

Demographic changes at the national level emphasize a critical need for multicultural education to be included as part of undergraduate education. This critical review of the literature examines 10 multicultural instruments that are suitable for use in K-12 or higher education institutions. This is a novel literature review in that it is the first…

Reviewing Literature in Bioethics Research: Increasing Rigour in Non-Systematic Reviews.

Science.gov (United States)

McDougall, Rosalind

2015-09-01

The recent interest in systematic review methods in bioethics has highlighted the need for greater transparency in all literature review processes undertaken in bioethics projects. In this article, I articulate features of a good bioethics literature review that does not aim to be systematic, but rather to capture and analyse the key ideas relevant to a research question. I call this a critical interpretive literature review. I begin by sketching and comparing three different types of literature review conducted in bioethics scholarship. Then, drawing on Dixon-Wood's concept of critical interpretive synthesis, I put forward six features of a good critical interpretive literature review in bioethics: answering a research question, capturing the key ideas relevant to the research question, analysing the literature as a whole, generating theory, not excluding papers based on rigid quality assessment criteria, and reporting the search strategy. © 2015 John Wiley & Sons Ltd.

Scapulothoracic bursitis and snapping scapula syndrome: a critical review of current evidence.

Science.gov (United States)

Warth, Ryan J; Spiegl, Ulrich J; Millett, Peter J

2015-01-01

Symptomatic scapulothoracic disorders, such as painful scapular crepitus and/or bursitis, are uncommon; however, they can produce significant pain and disability in many patients. To review the current knowledge pertaining to snapping scapula syndrome and to identify areas of further research that may be helpful to improve clinical outcomes and patient satisfaction. Systematic review. We performed a preliminary search of the PubMed and Embase databases using the search terms "snapping scapula," "scapulothoracic bursitis," "partial scapulectomy," and "superomedial angle resection" in September 2013. All nonreview articles related to the topic of snapping scapula syndrome were included. The search identified a total of 167 unique articles, 81 of which were relevant to the topic of snapping scapula syndrome. There were 36 case series of fewer than 10 patients, 16 technique papers, 11 imaging studies, 9 anatomic studies, and 9 level IV outcomes studies. The level of evidence obtained from this literature search was inadequate to perform a formal systematic review or meta-analysis. Therefore, a critical review of current evidence is presented. Snapping scapula syndrome, a likely underdiagnosed condition, can produce significant shoulder dysfunction in many patients. Because the precise origin is typically unknown, specific treatments that are effective for some patients may not be effective for others. Nevertheless, bursectomy with or without partial scapulectomy is currently the most effective primary method of treatment in patients who fail nonoperative therapy. However, many patients experience continued shoulder disability even after surgical intervention. Future studies should focus on identifying the modifiable factors associated with poor outcomes after operative and nonoperative management for snapping scapula syndrome in an effort to improve clinical outcomes and patient satisfaction. © 2014 The Author(s).

The 7q11.23 Microduplication Syndrome: A Clinical Report with Review of Literature

OpenAIRE

Abbas, Elham; Cox, Devin M.; Smith, Teri; Butler, Merlin G.

2016-01-01

We report a 14-year-old adolescent girl with selective mutism (SM) and a 7q11.23 microduplication detected by chromosomal microarray (CMA) analysis and reviewed the literature from 18 published clinical reports. Our patient had specific phobias, SM, extreme anxiety, obesity, cutis marmorata, and a round appearing face with a short neck and over folded ears. We reviewed the published clinical, cognitive, behavioral, and cytogenetic findings grouped by speech and language delay, growth and deve...

Crouzon′s syndrome: A review of literature and case report

Directory of Open Access Journals (Sweden)

Vivek Padmanabhan

2011-01-01

Full Text Available Crouzon′s syndrome is an autosomal dominant disorder with complete penetrance and variable expressivity. Described by a French neurosurgeon in 1912, it is a rare genetic disorder. Crouzon′s syndrome is caused by mutation in the fibroblast growth factor receptor 2 (FGFR2 gene. Normally, the sutures in the human skull fuse after the complete growth of the brain, but if any of these sutures close early then it may interfere with the growth of the brain. The disease is characterized by premature synostosis of coronal and sagittal sutures which begins in the first year of life. Case report of a 7 year old boy is presented with characteristic features of Crouzon′s syndrome with mental retardation. The clinical, radiographic features along with the complete oral rehabilitation done under general anesthesia and preventive procedures done are described.

Ageing of people with Down's syndrome: a systematic literature review from 2000 to 2014.

Science.gov (United States)

Covelli, Venusia; Raggi, Alberto; Meucci, Paolo; Paganelli, Chiara; Leonardi, Matilde

2016-03-01

Life expectancy of people with Down's syndrome (DS) has increased considerably, now exceeding 60 years. People with DS start to get old around the age of 45. By referring to the WHO's International Classification of Functioning, Disability and Health (ICF) biopsychosocial perspective, this study aimed to present an up-to-date review of the past 14 years of literature concerning the ageing of people with DS. PUBMED, PsycInfo and the Social Sciences Citation Index were searched for studies published between 2000 and 2014. Studies were selected if they were written in English, focused on people more than 45 years of age with DS, and if terms related to DS and ageing appeared in either the title or the abstract. A total of 30 studies were retrieved and their meaningful concepts were linked to the ICF. In total, 38 ICF categories were identified that were mainly related to intellectual functions (b117) (19%), general metabolic functions (b540) (7.4%), mobility of joint functions (b710), muscle power functions (b730) (4.2%), gait pattern functions (b770) (4.2%) and structure of the brain (s110) (4.3%). Only two studies considered environmental factors, and only one considered the joint analysis of health condition and environmental factors. Data about the ageing of people with DS are predominantly based on medical evaluations and descriptions of their physical impairments. Few attempts have been made towards a comprehensive assessment of elderly people with DS with a joint analysis of their health condition and its interaction with environmental factors.

Apert′s Syndrome

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B K Sohi

1980-01-01

Full Text Available A case of Apert′s syndrome in a one year old female child is described and literature reviewed. She was the first born of a young couple. She had congenital syndactyl of toes and fingers, acro-cephalic skull, flat facies, exophthalmos, hypertelorism and greasy skin. In addition to the typical radiological features of this syndrome which the patient showed, thickened first metacarpals forked at the base were also seen. There were two phalanges for each toe. Calcification was seen intracranially. These radiological features have not been mentioned so far in the literature reviewed.

Literature review

DEFF Research Database (Denmark)

Nissen, Nina Konstantin; Holm, Lotte

2015-01-01

Improved understanding of how normal weight and moderately overweight people manage their body weight and shape could be used to inform initiatives to prevent and treat obesity. This literature review offers a thorough appraisal of existing research into perceptions and management of own body size...... among normal weight and moderately overweight people. The studies reported in the 47 publications reviewed here address various themes based on different conceptualizations. The studies point out that normal weight and moderately overweight people are much concerned about their body size, but huge...

Cotard's syndrome: Two case reports and a brief review of literature

OpenAIRE

Grover, Sandeep; Aneja, Jitender; Mahajan, Sonali; Varma, Sannidhya

2014-01-01

Cotard′s syndrome is a rare neuropsychiatric condition in which the patient denies existence of one′s own body to the extent of delusions of immortality. One of the consequences of Cotard′s syndrome is self-starvation because of negation of existence of self. Although Cotard′s syndrome has been reported to be associated with various organic conditions and other forms of psychopathology, it is less often reported to be seen in patients with catatonia. In this report we present two cases of Cot...

Should we offer prenatal testing for 17q12 microdeletion syndrome to all cases with prenatally diagnosed echogenic kidneys? Prenatal findings in two families with 17q12 microdeletion syndrome and review of the literature.

Science.gov (United States)

Jones, Gabriela E; Mousa, Hatem A; Rowley, Helen; Houtman, Peter; Vasudevan, Pradeep C

2015-12-01

The objective of this study is to report the prenatal ultrasound scan findings in four fetuses from two families postnatally diagnosed with 17q12 microdeletion syndrome on microarray CGH and review the literature. We report two families presenting with prenatally detected hyperechogenic kidneys. In family 1, the mother had three pregnancies complicated by anhydramnios with bilateral hyperechogenic kidneys, hyperechogenic enlarged cystic kidneys, and bilateral hyperechogenic kidneys with polyhydramnios respectively. In family 2, prenatal ultrasound scans detected hyperechogenic kidneys. A pubmed search for all reported cases of 17q12 deletion between 2005 and 2015 was performed. All publications were reviewed, and findings summarised. Fourteen publications were deemed suitable for literature review; there was a diagnosis of 17q12 deletion with documented prenatal findings in 25 cases. Prenatal renal anomalies were reported in 88% of these cases. Anomalies were documented from 15 weeks, and most common presentation was hyperechogenic, muticystic, or enlarged kidneys. Both oligohydramnios and polyhydramnios were seen. Postnatal renal ultrasound scan findings were of muticystic or multicystic dysplastic kidney. There did not appear to be correlation of prenatal presentation and severity of renal disease. Prenatal testing should be offered to all cases of hyperechogenic kidneys, with unknown cause. © 2015 John Wiley & Sons, Ltd.

Tics in TACs: A Step into an Avalanche? Systematic Literature Review and Conclusions.

Science.gov (United States)

Wöber, Christian

2017-11-01

Trigeminal autonomic cephalalgias (TACs) comprise cluster headache, paroxysmal hemicrania, short-lasting unilateral neuralgiform headache attacks, and hemicrania continua. In some cases, trigeminal neuralgia (TN, "tic douloureux") or TN-like pain may co-occur with TACs. This article will review the co-occurrence and overlap of TACs and tics in order to contribute to a better understanding of the issue and an improved management of the patients. For performing a systematic literature review Pubmed was searched using a total of ten terms. The articles identified were screened for further articles of relevance. TACs are related to tics in various ways. TN or TN-like paroxysms may co-occur with CH, PH, and HC, labeled as cluster-tic syndrome, PH-tic syndrome, and HC-tic syndrome. Such co-occurrence was not only found in the primary TACs but also in secondary headaches resembling TACs. The initial onset of TAC and tic may be simultaneous or separated by months or years. In acute attacks, tic and TAC may occur concurrently or much more often independently of each other. The term "cluster-tic syndrome" was also used in patients with a single type of pain in a twilight zone between TACs and TN fulfilling none of the relevant diagnostic criteria. Short-lasting neuralgiform headache attacks overlap with TN in terms of clinical features, imaging findings, and therapy. © 2017 American Headache Society.

Gluteal Black Market Silicone-induced Renal Failure: A Case Report and Literature Review.

Science.gov (United States)

Matson, Andrea; Faibisoff, Burt

2017-11-01

Very few cases of successful surgical treatment for renal failure due to gluteal silicone injections have been reported in the literature. The silicone toxicity and subsequent renal failure seem to follow repetitive silicone injections and silicone injections in large quantities. This is a case of a 31-year-old woman who developed renal failure after 6 years of gluteal silicone injections who underwent radical resection of bilateral gluteal regions in an attempt to mitigate her impending complete renal failure. A systematic review of the literature was conducted using PubMed database and with assistance from medical library staff to conduct keyword searches for "Silicone," "Renal failure," "Silicone emboli syndrome," "Silicone granuloma," and "Silicone end organ toxicity." The search results were reviewed by the authors and selected based on the relevance to the case report presented. Extensive literature relating to silicone granulomas and their systemic effects supports the use of steroids for immediate treatment and eventual surgical resection for cure of the various silicone-related end-organ toxicities including renal failure.

Macrophage activation syndrome associated with griscelli syndrome type 2: case report and review of literature

Science.gov (United States)

Sefsafi, Zakia; Hasbaoui, Brahim El; Kili, Amina; Agadr, Aomar; Khattab, Mohammed

2018-01-01

Abstract Macrophage activation syndrome (MAS) is a severe and potentially fatal life-threatening condition associated with excessive activation and expansion of T cells with macrophages and a high expression of cytokines, resulting in an uncontrolled inflammatory response, with high levels of macrophage colony-stimulating factor and causing multiorgan damage. This syndrome is classified into primary (genetic/familial) or secondary forms to several etiologies, such as infections, neoplasias mainly hemopathies or autoimmune diseases. It is characterised clinically by unremitting high fever, pancytopaenia, hepatosplenomegaly, hepatic dysfunction, encephalopathy, coagulation abnormalities and sharply increased levels of ferritin. The pathognomonic feature of the syndrome is seen on bone marrow examination, which frequently, though not always, reveals numerous morphologically benign macrophages exhibiting haemophagocytic activity. Because MAS can follow a rapidly fatal course, prompt recognition of its clinical and laboratory features and immediate therapeutic intervention are essential. However, it is difficult to distinguish underlying disease flare, infectious complications or medication side effects from MAS. Although, the pathogenesis of MAS is unclear, the hallmark of the syndrome is an uncontrolled activation and proliferation of T lymphocytes and macrophages, leading to massive hypersecretion of pro-inflammatory cytokines. Mutations in cytolytic pathway genes are increasingly being recognised in children who develop MAS in his secondary form. We present here a case of Macrophage activation syndrome associated with Griscelli syndrome type 2 in a 3-years-old boy who had been referred due to severe sepsis with non-remitting high fever, generalized lymphoadenopathy and hepato-splenomegaly. Laboratory data revealed pancytopenia with high concentrations of triglycerides, ferritin and lactic dehydrogenase while the bone marrow revealed numerous morphologically benign

Headache Attributed to Airplane Travel: A Review of Literature.

Science.gov (United States)

Nierenburg, Hida; Jackfert, Katelin

2018-06-14

Headaches due to airplane travel are rare but documented in the literature. We aim to provide a review of diagnostic criteria and treatment for this condition. Several cases of this syndrome have been reported since it was first described in 2004. Airplane headache is classified as unilateral, stabbing, orbito-frontal pain, lasting under 30 min, and occurs during ascent or descent of a plane. Patients with this condition can develop anxiety and fear of flying given the intensity and severity of the pain. The pathophysiology of this syndrome is unknown, but theories include suspected barotrauma given changes in barometric pressure during ascent and descent. There are no randomized controlled trials regarding treatment, but case reports suggest headache prevention with pre-treatment with naproxen, decongestants, and triptans prior to air travel. Some non-pharmacological therapies reported include Valsalva maneuvers, chewing, relaxation techniques, and pressure at the pain area. As more cases of headache attributed to airplane travel are reported, epidemiological data can be obtained to further understand the incidence and prevalence of this condition, which can lead to improved treatment options for patients.

A brief historic review of the conceptions of Autism and Asperger syndrome

OpenAIRE

Tamanaha, Ana Carina [UNIFESP; Perissinoto, Jacy [UNIFESP; Chiari, Brasilia Maria [UNIFESP

2008-01-01

O objetivo deste estudo foi revisar historicamente os conceitos do Autismo Infantil e da síndrome de Asperger. Por meio de revisão de literatura os autores buscaram mostrar as modificações, ao longo do tempo, das concepções teóricas e das descrições clínicas destes quadros.The aim of this study was to review historically the concepts of Autism and Asperger syndrome. Through literature review, the authors evidence the changes on theoretical concepts and clinical descriptions of Autism and Aspe...

Marine-Lenhart syndrome in two adolescents, including one with thyroid cancer: a case series and review of the literature.

Science.gov (United States)

Sharma, Animesh

2017-11-27

The coexistence of functional thyroid nodules and Graves' disease (GD) is a rare condition known as Marine-Lenhart syndrome. Thyroid cancer has been described in several adults, but never in children, with Marine-Lenhart syndrome. This paper discusses the challenges in diagnosis and the unique management of this condition in children, in the context of extant literature. In this case report, two adolescent female patients with Marine-Lenhart syndrome, aged 15 and 16 years, exhibited biochemical evidence of hyperthyroidism, and were found to have unilateral hyperfunctioning thyroid nodules via thyroid scintigraphy. Additionally, both patients showed elevated thyroid-stimulating immunoglobulins (TSI) and increased glandular activity, confirming background GD. Notably, one patient was also diagnosed with intranodular thyroid cancer upon preoperative examination. Both patients were treated via surgical resection. Summary and outlook: Diagnosis of Marine-Lenhart syndrome can be made in patients with functional thyroid nodules and increased glandular activity on thyroid scintigraphy. Standard doses of radioiodine ablation are not effective in the majority of patients and should be avoided due to the increased risk for thyroid cancer, making thyroidectomy the preferred treatment.

Carpal Tunnel Syndrome in Aberrant Muscle Syndrome: A Case Report and Review of the Literature.

Science.gov (United States)

Steele, Jessica; Coombs, Christopher

2018-06-01

Aberrant Muscle Syndrome (AMS) is a rare congenital hand difference that is characterised by unilateral non-progressive muscular hyperplasia. The aetiology of aberrant muscle syndrome is not known, but a recently published case has shown a somatic PIK3CA activating mutation in a patient with AMS. Carpal tunnel syndrome (CTS) in children is rare. The most common causes are the mucopolysaccaridoses but space-occupying lesions have also been reported to cause CTS in children. We report the first case of CTS in a child with AMS successfully treated with open carpal tunnel release and excision of aberrant muscles.

Hyperimmunoglobulin E syndrome with Sjogren's syndrome in a child

African Journals Online (AJOL)

We describe a case of hyperimmunoglobulin E syndrome (HIES) associated with Sjogren's syndrome (SS) in a 10-year-old boy and provide a brief review of the literature. Although seen in adults, SS occurring after a primary immunodeficiency disease such as HIES has not previously been reported in a child.

Werner’s syndrome: A case report and review of literature

Directory of Open Access Journals (Sweden)

Farhana Tahseen Taj

2018-04-01

Full Text Available Werner’s Syndrome also known as Pangeria is an autosomal recessive disorder characterized by premature aging, increased risk of malignancies and atherosclerosis. The Global incidence rate is less than 1 in 100,000 live births. The incidence is higher in Japan and Sardinia affecting 1 in 20,000 – 40,000 live births and 1 in 50,000 live births respectively. Individuals with this disorder typically grow and develop normally until they reach puberty. Affected individual usually do not have a growth spurt, resulting in short stature. The characteristic aged appearance typically begins to develop when they are in their twenties and includes graying and loss of hair, a hoarse voice, and thin, hardened skin. They may also have a facial appearance described as “bird-like facies.” Werner’s Syndrome has been described as “Caricature of ageing” by Epstein et al. 1996. An OMIM number # has been assigned to Werner’s Syndrome with phenotype MIM number 277700 (OMIM#277700.

A survey and critical review of the literature on indoor air quality, ventilation and health symptoms in schools

Energy Technology Data Exchange (ETDEWEB)

Daisey, J.M. [Lawrence Berkeley National Lab., CA (United States). Energy and Environment Div.; Angell, W.J. [Univ. of Minnesota, St. Paul, MN (United States)

1998-03-01

A survey and critical review were undertaken of existing published literature and reports on indoor air quality (IAQ), ventilation, and IAQ- and building-related health problems in schools, including California schools. Over 450 relevant publications were obtained and reviewed, including papers published in the archival peer-reviewed scientific literature, proceedings of scientific meetings, government reports, 77 NIOSH Health Hazard Evaluation Reports (HHER) and 70 reports on investigations of problem schools in California. Most of the reviewed literature was for complaint or problem schools. The types of health symptoms reported in schools were very similar to those defined as sick building syndrome (SBS) symptoms, although this may be due, at least in part, to the type of health symptom questionnaires used. Some of the symptoms, e.g., wheezing, are indicative of asthma. In the studies in which complaint and noncomplaint buildings or areas were compared, complaint buildings generally had higher rates of health symptoms.

Literature Reviews

Science.gov (United States)

Rhoades, Ellen A.

2011-01-01

The primary purpose of a literature review is to assist readers in understanding the whole body of available research on a topic, informing readers on the strengths and weaknesses of studies within that body. It is defined by its guiding concept or topical focus: an account of what was previously published on a specific topic. This prevents…

Role of dietary modification in alleviating chronic fatigue syndrome symptoms: a systematic review.

Science.gov (United States)

Jones, Kathryn; Probst, Yasmine

2017-08-01

To review the evidence for the role of dietary modifications in alleviating chronic fatigue syndrome symptoms. A systematic literature review was guided by PRISMA and conducted using Scopus, CINAHL Plus, Web of Science and PsycINFO scientific databases (1994-2016) to identify relevant studies. Twenty-two studies met the inclusion criteria, the quality of each paper was assessed and data extracted into a standardised tabular format. Positive outcomes were highlighted in some included studies for polyphenol intakes in animal studies, D-ribose supplementation in humans and aspects of symptom alleviation for one of three polynutrient supplement studies. Omega three fatty acid blood levels and supplementation with an omega three fatty acid supplement also displayed positive outcomes in relation to chronic fatigue syndrome symptom alleviation. Limited dietary modifications were found useful in alleviating chronic fatigue syndrome symptoms, with overall evidence narrow and inconsistent across studies. Implications for public health: Due to the individual and community impairment chronic fatigue syndrome causes the population, it is vital that awareness and further focused research on this topic is undertaken to clarify and consolidate recommendations and ensure accurate, useful distribution of information at a population level. © 2017 The Authors.

Korsakoff's syndrome: A critical review

NARCIS (Netherlands)

Arts, N.J.M.; Walvoort, S.J.W.; Kessels, R.P.C.

2017-01-01

In this review, we present a survey on Korsakoff's syndrome (KS), a residual syndrome in patients who suffered from a Wernicke encephalopathy (WE) that is predominantly characterized by global amnesia, and in more severe cases also by cognitive and behavioral dysfunction. We describe the history of

Impaired glucose tolerance, type 2 diabetes and metabolic syndrome in polycystic ovary syndrome: a systematic review and meta-analysis.

Science.gov (United States)

Moran, Lisa J; Misso, Marie L; Wild, Robert A; Norman, Robert J

2010-01-01

BACKGROUND Polycystic ovary syndrome (PCOS) is a common condition in reproductive-aged women associated with impaired glucose tolerance (IGT), type 2 diabetes mellitus (DM2) and the metabolic syndrome. METHODS A literature search was conducted (MEDLINE, CINAHL, EMBASE, clinical trial registries and hand-searching) identifying studies reporting prevalence or incidence of IGT, DM2 or metabolic syndrome in women with and without PCOS. Data were presented as odds ratio (OR) [95% confidence interval (CI)] with fixed- and random-effects meta-analysis by Mantel-Haenszel methods. Quality testing was based on Newcastle-Ottawa Scaling and The Cochrane Collaboration's risk of bias assessment tool. Literature searching, data abstraction and quality appraisal were performed by two investigators. RESULTS A total of 2192 studies were reviewed and 35 were selected for final analysis. Women with PCOS had increased prevalence of IGT (OR 2.48, 95% CI 1.63, 3.77; BMI-matched studies OR 2.54, 95% CI 1.44, 4.47), DM2 (OR 4.43, 95% CI 4.06, 4.82; BMI-matched studies OR 4.00, 95% CI 1.97, 8.10) and metabolic syndrome (OR 2.88, 95% CI 2.40, 3.45; BMI-matched studies OR 2.20, 95% CI 1.36, 3.56). One study assessed IGT/DM2 incidence and reported no significant differences in DM2 incidence (OR 2.07, 95% CI 0.68, 6.30). One study assessed conversion from normal glucose tolerance to IGT/DM2 (OR 2.4, 95% CI 0.7, 8.0). No studies reported metabolic syndrome incidence. CONCLUSIONS Women with PCOS had an elevated prevalence of IGT, DM2 and metabolic syndrome in both BMI and non-BMI-matched studies. Few studies have determined IGT/DM2 or metabolic syndrome incidence in women with and without PCOS and further research is required.

Primary Sjögren's syndrome accompanied by pleural effusion: a case report and literature review.

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Ma, Dedong; Lu, Hongxiu; Qu, Yiqing; Wang, Shanshan; Ying, Yangyang; Xiao, Wei

2015-01-01

Sjögren's syndrome (SS) is a systemic autoimmune disease characterized by the infiltration of lymphocytes in exocrine glands, specifically the salivary and lacrimal glands, resulting in the typical symptoms of xerophthalmia and xerostomia. SS may be accompanied by pleural effusion when the lung is involved, but this occurrence has been reported in only 10 cases in the literature. We report the case of a 42 year-old woman with severe bilateral pleural effusion for eight years. Primary Sjögren's Syndrome was finally diagnosed based on the presence of xerophthalmia and xerostomia, biopsy of the minor salivary glands, and positive anti-SS-A antibody in the serum and pleural effusion. Biopsy of the parietal pleura through video-assisted thoracoscopy revealed infiltration of lymphocytes. The patient had a long history of pleural effusion without clear etiology. Malignant disease was first suspected because of abnormal density lesion on the left lung and malignant cells found on cytology, but PET-CT revealed no malignant lesion. Examinations did not support infection, malignant tumor, pulmonary sarcoidosis, or other connective tissue diseases. This data could be useful for the future study of pleural effusion in SS.

Gorlin syndrome: A case report

Directory of Open Access Journals (Sweden)

Patil K

2005-01-01

Full Text Available Gorlin syndrome is an autosomal dominant inherited condition that exhibits high penetrance and variable expressivity. It is characterized mainly by Basal cell carcinomas, Odontogenic keratocysts and skeletal anomalies. However, medical literature documents both common and lesser known manifestations of the disorder involving the skin, central nervous system, skeletal system etc. Diagnosis of the syndrome in childhood is basically through oral abnormalities. A case of Gorlin syndrome has been reported here, with review of literature.

Prune-belly syndrome: case series and review of the literature regarding early prenatal diagnosis, epidemiology, genetic factors, treatment, and prognosis.

Science.gov (United States)

Tonni, Gabriele; Ida, Vito; Alessandro, Ventura; Bonasoni, Maria Paola

2013-02-01

Prune-belly syndrome (PBS) is a rare congenital syndrome characterized by deficient abdominal muscles, urinary tract malformation, and in males, cryptorchidism and has an estimated incidence of 1 in 35,000 to 1 in 50,000 live births. The syndrome might be due to severe bladder outlet obstruction or to abdominal muscle deficiency secondary to a migrational defect of the lateral mesoblast between weeks 6 and 7 of pregnancy. The current review of the medical record reports a special focus on epidemiology, genetic factors, early prenatal diagnosis clusters, treatment, and prognosis of PBS.

Gray literature: An important resource in systematic reviews.

Science.gov (United States)

Paez, Arsenio

2017-08-01

Systematic reviews aide the analysis and dissemination of evidence, using rigorous and transparent methods to generate empirically attained answers to focused research questions. Identifying all evidence relevant to the research questions is an essential component, and challenge, of systematic reviews. Gray literature, or evidence not published in commercial publications, can make important contributions to a systematic review. Gray literature can include academic papers, including theses and dissertations, research and committee reports, government reports, conference papers, and ongoing research, among others. It may provide data not found within commercially published literature, providing an important forum for disseminating studies with null or negative results that might not otherwise be disseminated. Gray literature may thusly reduce publication bias, increase reviews' comprehensiveness and timeliness, and foster a balanced picture of available evidence. Gray literature's diverse formats and audiences can present a significant challenge in a systematic search for evidence. However, the benefits of including gray literature may far outweigh the cost in time and resource needed to search for it, and it is important for it to be included in a systematic review or review of evidence. A carefully thought out gray literature search strategy may be an invaluable component of a systematic review. This narrative review provides guidance about the benefits of including gray literature in a systematic review, and sources for searching through gray literature. An illustrative example of a search for evidence within gray literature sources is presented to highlight the potential contributions of such a search to a systematic review. Benefits and challenges of gray literature search methods are discussed, and recommendations made. © 2017 Chinese Cochrane Center, West China Hospital of Sichuan University and John Wiley & Sons Australia, Ltd.

Grey literature: An important resource in systematic reviews.

Science.gov (United States)

Paez, Arsenio

2017-12-21

Systematic reviews aid the analysis and dissemination of evidence, using rigorous and transparent methods to generate empirically attained answers to focused research questions. Identifying all evidence relevant to the research questions is an essential component, and challenge, of systematic reviews. Grey literature, or evidence not published in commercial publications, can make important contributions to a systematic review. Grey literature can include academic papers, including theses and dissertations, research and committee reports, government reports, conference papers, and ongoing research, among others. It may provide data not found within commercially published literature, providing an important forum for disseminating studies with null or negative results that might not otherwise be disseminated. Grey literature may thusly reduce publication bias, increase reviews' comprehensiveness and timeliness and foster a balanced picture of available evidence. Grey literature's diverse formats and audiences can present a significant challenge in a systematic search for evidence. However, the benefits of including grey literature may far outweigh the cost in time and resource needed to search for it, and it is important for it to be included in a systematic review or review of evidence. A carefully thought out grey literature search strategy may be an invaluable component of a systematic review. This narrative review provides guidance about the benefits of including grey literature in a systematic review, and sources for searching through grey literature. An illustrative example of a search for evidence within grey literature sources is presented to highlight the potential contributions of such a search to a systematic review. Benefits and challenges of grey literature search methods are discussed, and recommendations made. © 2017 Chinese Cochrane Center, West China Hospital of Sichuan University and John Wiley & Sons Australia, Ltd.

Tongue-tie, from embriology to treatment: a literature review

Directory of Open Access Journals (Sweden)

Maria Dezio

2015-03-01

Full Text Available The aim of this review is to create a complete analysis about tongue-tie (or short lingual frenum or ankyloglossia according to the most important works published in literature. The analysis allowed us to do a complete evaluation of this problem, from embriology to the therapeutic approach we could use today, focusing our attention on laser-assisted therapy. This review is based on the research on the PubMed Database (www.ncbi.nlm.nih.gov of studies about lingual frenum written in English between January 1980 and May 2014. The keywords inserted were “lingual frenum”, “frenectomy”, “laser therapy”. We have analyzed: case series, case reports, clinical studies, and also literature reviews in which embryology, physiology, diagnosis and treatment of ankyloglossia were described. We excluded laboratory studies, studies based on animal tests and studies about patients with particular syndromes in which we can also find tongue-tie. The selection criteria allowed us to select 42 articles. The treatment options for the releasing of the frenum are surgically represented by frenotomy (i.e. simple horizontal cut of this training and frenectomy (i.e. removal. In both cases, the intervention on the short lingual frenum is simple, short-lasting, and without particular complications. Furthermore, this kind of treatment can be carried out with different devices: with the typical cold blade scalpel or by the use of laser, a new method that shows more advantages over the prior art. Laser-assisted therapy permits to intervene on newborns (from 0 to 20 days, when there are breastfeeding problems without total anesthesia and suture. The Er:YAG, CO2 laser (according to literature data and Diode laser (according to our experience are advantageous, safe and effective in tongue-tie treatment.

Reiters syndrome – a case report and review of literature | Alebiosu ...

African Journals Online (AJOL)

The occurrence of Reiter's Syndrome is rare and not commonly reported in Nigeria. This paper reports a case of a 35yr old male Nigerian with Reiter's Syndrome, occurring 1-2 weeks after a bout of a dysenteric illness. The patient presented with fever, conjunctivitis, dysentery, urethritis and arthralgia. The joint pains ...

Does Cardiac Rehabilitation After an Acute Cardiac Syndrome Lead to Changes in Physical Activity Habits? Systematic Review

NARCIS (Netherlands)

ter Hoeve, Nienke; Huisstede, Bionka M. A.; Stam, Henk J.; van Domburg, Ron T.; Sunamura, Madoka; van den Berg-Emons, Rita J. G.

Background. Optimal physical activity levels have health benefits for patients with acute coronary syndrome (ACS) and are an important goal of cardiac rehabilitation (CR). Purpose. The purpose of this study was to systematically review literature regarding short-term effects (= 6 months after

Fat embolism syndrome: a review of the literature | Mustapha ...

African Journals Online (AJOL)

Fat embolism syndrome is a serious manifestation of fat embolism phenomenon characterized clinically by triad of dyspnoea, petechiae and mental confusion and usually follows long bone fractures. Its classic presentation consists of an asymptomatic interval followed by pulmonary and neurologic manifestations combined ...

Wolf-Hirschhorn syndrome (WHS) - literature review on the features of the syndrome.

Science.gov (United States)

Paradowska-Stolarz, Anna M

2014-01-01

Wolf-Hirschhorn syndrome (WHS) is a congenital disorder associated with 4 chromosome microdeletion. The patients suffer from various deformities. Among them, mental and growth retardation, even in the fetus, are observed. Most of the characteristics concern facial features. The "Greek warrior helmet appearance" is the most characteristic feature and refers to the facial view with prominent glabella, high arched eyebrow, broad nasal bridge and hypertelorism. Another characteristic feature is microcephalia with micrognathia. The features are more pronounced in infants. Clefts of lip and/or palate are observed in almost half of the cases. The characteristic thing is that the more genetic material is missing, the more pronounced are the dimorphic features of the syndrome. Mostly, the dental status does not differ much from that of the healthy individuals. It had been proven though that WHS-patients are more prone to anomalies in dental structures. Cone-shaped and taurodontic teeth were observed. Multiple tooth agenesis (mainly at premolars and molars) with over-retained deciduous dentition might be associated with MSX1-gene impairment.

Lexis, My Little Fairy Princess: Literature Review and Case Report on Non-Organic Failure To Thrive (NOFTT).

Science.gov (United States)

Racicot, Lina C.

This paper explores the issues and possible etiologies associated with Non-Organic Failure To Thrive (NOFTT), a syndrome in which a child's weight gain deviates from an established pattern to become dramatically less than norms for age and sex. The case study of a 4-year-old named Lexis complements the literature review. Lexis remained small and…

Hypophosphatemic osteomalacia and renal Fanconi syndrome induced by low-dose adefovir dipivoxil: a case report and literature review suggesting ethnic predisposition.

Science.gov (United States)

Wu, C; Zhang, H; Qian, Y; Wang, L; Gu, X; Dai, Z

2013-08-01

Adefovir dipivoxil (ADV) is one of the commonly used antiviral agents in the treatment of chronic hepatitis B (CHB) infection. Safety of a daily dose of 10 mg ADV is advocated by the registration trials. We report a case of severe hypophosphatemic osteomalacia and renal Fanconi syndrome induced by low-dose ADV in a CHB-related cirrhosis patient, and discuss the case through a thorough review of other cases reported in the literature. A 48-yr-old Chinese man with CHB-related cirrhosis developed severe progressive generalized bone pain and muscle weakness after receiving ADV 10 mg daily for 54 months. The laboratory results showed severe hypophosphatemia and features of proximal renal tubule dysfunction. Imaging studies were consistent with osteomalacia. After discontinuation of ADV, his symptoms resolved, laboratory abnormalities normalized and imaging studies showed improvement. In addition to our case, 12 other patients have been reported to have developed hypophosphatemic osteomalacia induced by low-dose ADV. Most of the reported cases were of subjects of East-Asian ethnicity. After discontinuation or reduction of ADV, serum phosphate level increased and clinical symptoms significantly improved in all cases. Hypophosphatemic osteomalacia and renal Fanconi syndrome can be associated with low-dose ADV. Clinicians treating CHB patients with ADV 10 mg daily over long periods of time should be aware of this infrequent but serious complication. © 2013 John Wiley & Sons Ltd.

A Guide to Writing the Dissertation Literature Review

Science.gov (United States)

Randolph, Justus J.

2009-01-01

Writing a faulty literature review is one of many ways to derail a dissertation. This article summarizes some pivotal information on how to write a high-quality dissertation literature review. It begins with a discussion of the purposes of a review, presents taxonomy of literature reviews, and then discusses the steps in conducting a quantitative…

HaNDL Syndrome Presenting During Pregnancy: A Case Report and Review of the Literature

Directory of Open Access Journals (Sweden)

Yüksel Kaplan

2014-09-01

Full Text Available Headache associated with neurological deficits and cerebrospinal fluid lymphocytosis (HaNDL is a self-limited syndrome characterized by sudden-onset headache with a temporary neurological deficit and cerebrospinal fluid (CSF lymphocytosis. We aimed to disscus a case of HaNDL syndrome presenting during pregnancy with relevant literature. A 20-year-old female presented with a 5-day history of severe, bilateral throbbing headache accompanied by nausea, vomiting, and phonophobia. Approximately 2 days after the pain developed, she became acutely confused for less than 90 minutes. 2 days after this episode, she experienced again confusional state and left hemiparesis. There were no symptoms consistent with meningoencephalitis. She was pregnant and at 11 weeks gestation. A neurologic examination showed confusional state, bilateral papilledema, and mild left hemiparesis. The neuroradiological examination was normal. The cerebrospinal fluid revealed lymphocytic pleocytosis, mildly elevated protein, and increased opening pressure. She recovered completely after 8 days. The precise etiology of HaNDL is unknown, although an inflammatory or infectious origin and autoimmune factors have been proposed. Moreover, the risk factors and medical conditions associated with HaNDL are unknown. It is obviously difficult to determine whether the pregnancy was coincidental or associated in this case. We believe that comprehensive studies are needed to clarify the risk factors and medical conditions associated with HaNDL

Bartsocas-Papas Syndrome: A Case Report and Review of the Literature.

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Erturan, Gurhan; Holton, James; Wall, Steven; Giele, Henk

2016-04-01

Bartsocas-Papas syndrome (BPS) is an autosomal recessively inherited form of the popliteal pterygium syndrome characterized by severe growth retardation, midface hypoplasia, popliteal pterygia, and syndactyly. Almost all affected babies die in utero or infancy. We report the difficulties of reconstruction and ongoing plastic surgical management in an 8-year-old child with BPS. With increasingly sophisticated resuscitation and supportive techniques, it is possible that more patients with BPS will survive beyond the neonatal period. This raises new challenges with reconstruction highlighted by this case with a difficult balance between trying to overcome some of the profound effects of the syndrome versus diminishing quality of life for the child by repeated and often unsuccessful surgical procedures.

Cotard′s syndrome: Two case reports and a brief review of literature

Directory of Open Access Journals (Sweden)

Sandeep Grover

2014-01-01

Full Text Available Cotard′s syndrome is a rare neuropsychiatric condition in which the patient denies existence of one′s own body to the extent of delusions of immortality. One of the consequences of Cotard′s syndrome is self-starvation because of negation of existence of self. Although Cotard′s syndrome has been reported to be associated with various organic conditions and other forms of psychopathology, it is less often reported to be seen in patients with catatonia. In this report we present two cases of Cotard′s syndrome, both of whom had associated self-starvation and nutritional deficiencies and one of whom had associated catatonia.

Failed back surgery syndrome: review and new hypotheses

Directory of Open Access Journals (Sweden)

Bordoni B

2016-01-01

Full Text Available Bruno Bordoni,1,2 Fabiola Marelli2 1Department of Cardiology, Foundation Don Carlo Gnocchi, IRCCS, Institute of Hospitalization and Care, S Maria Nascente, Milan, 2School CRESO, Osteopathic Centre for Research and Studies, Falconara Marittima, Ancona, Italy Abstract: Failed back surgery syndrome (FBSS is a term used to define an unsatisfactory outcome of a patient who underwent spinal surgery, irrespective of type or intervention area, with persistent pain in the lumbosacral region with or without it radiating to the leg. The possible reasons and risk factors that would lead to FBSS can be found in distinct phases: in problems already present in the patient before a surgical approach, such as spinal instability, during surgery (for example, from a mistake by the surgeon, or in the postintervention phase in relation to infections or biomechanical alterations. This article reviews the current literature on FBSS and tries to give a new hypothesis to understand the reasons for this clinical problem. The dysfunction of the diaphragm muscle is a component that is not taken into account when trying to understand the reasons for this syndrome, as there is no existing literature on the subject. The diaphragm is involved in chronic lower back and sacroiliac pain and plays an important role in the management of pain perception. Keywords: diaphragm, fascia, chronic pain, pain, spine FBSS

[The effects of Cardiodoron on cardio-respiratory coordination--a literature review].

Science.gov (United States)

Cysarz, D; Heckmann, C; Kümmell, H C

2002-10-01

In healthy subjects self-regulation of the organism establishes the order of rhythmical functions. This self-regulation is altered in patients suffering from idiopathic orthostatic syndrome resulting from disturbances of functional aspects only. Thus the cardio-respiratory coordination, which may serve as the representative of the order of rhythmical functions, is modified. In the case of idiopathic orthostatic syndrome the anthroposophic medicine offers the medicament Cardiodoron(r). Does it stimulate self-regulation in order to normalise the cardio-respiratory coordination? This claim is analysed by a systematic review of the literature. Only those publications were considered where the cardio-respiratory coordination was analysed in studies with patients or healthy subjects. The methods of the studies with patients and healthy subjects vary strongly. Nevertheless, a normalisation of the cardio-respiratory coordination could be found in studies with patients suffering from idiopathic orthostatic syndrome as well as in studies with healthy subjects. The studies show that the use of the medicament results in a normalisation of the cardiorespiratory coordination. By stimulating the self-regulation the medicament leads to an improvement of the order of rhythmical functions in the human organism. Copyright 2002 S. Karger GmbH, Freiburg

Leishmaniasis in travelers: a literature review.

Science.gov (United States)

Mansueto, Pasquale; Seidita, Aurelio; Vitale, Giustina; Cascio, Antonio

2014-01-01

Leishmaniasis is a vector-borne protozoan infection whose clinical spectrum ranges from asymptomatic infection to fatal visceral leishmaniasis. Over the last decades, an increase in imported leishmaniasis cases in developed, non-endemic countries, have been pointed-out from a review of the international literature. Among the possible causes are increasing international tourism, influx of immigrants from endemic regions and military operations. The main area for the acquisition of cutaneous leishmaniasis, especially for adventure travelers on long-term trips in highly-endemic forested areas, is represented from South America, whereas popular Mediterranean destinations are emerging as the main areas to acquire visceral variant. Leishmaniasis should be considered in the diagnostic assessment of patients presenting with a compatible clinical syndrome and a history of travel to an endemic area, even if this occurred several months or years before. Adventure travelers, researchers, military personnel, and other groups of travelers likely to be exposed to sand flies in endemic areas, should receive counseling regarding leishmaniasis and appropriate protective measures. Copyright © 2014 Elsevier Ltd. All rights reserved.

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

Structured Review of Code Clone Literature

NARCIS (Netherlands)

Hordijk, W.T.B.; Ponisio, Laura; Wieringa, Roelf J.

2008-01-01

This report presents the results of a structured review of code clone literature. The aim of the review is to assemble a conceptual model of clone-related concepts which helps us to reason about clones. This conceptual model unifies clone concepts from a wide range of literature, so that findings

Prune-belly syndrome in two children and review of the literature.

Science.gov (United States)

Bogart, Megan M; Arnold, Holly E; Greer, Kenneth E

2006-01-01

Prune-belly syndrome is a congenital disorder characterized by abdominal wall musculature deficiency, urinary tract anomalies, and bilateral cryptorchidism. Because of the defect in the musculature, the abdominal skin has a peculiar wrinkled appearance. The syndrome is commonly associated with pulmonary, skeletal, cardiac, and gastrointestinal defects. Developmental delays and growth retardation have also been reported. The incidence of prune belly syndrome is approximately 1:40,000 live births. Over 95% of patients are men. Urinary tract disease is the major prognostic factor, with the complications of pulmonary hypoplasia and end stage renal disease resulting in a mortality rate of 60%. Treatment involves surgical correction of the abdominal wall defect and urinary tract abnormalities, early orchiopexy, and supportive management of associated defects.

Skin symptoms in four ectodermal dysplasia syndromes including two case reports of Rapp-Hodgkin-Syndrome.

Science.gov (United States)

Knaudt, Björn; Volz, Thomas; Krug, Markus; Burgdorf, Walter; Röcken, Martin; Berneburg, Mark

2012-01-01

The skin, hair and nail changes in four distinct ectodermal dysplasia syndromes are compared and reviewed. These syndromes comprise Christ-Siemens-Touraine syndrome; ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome; ankyloblepharon-ectodermal defects-cleft lip/palate syndrome and Rapp-Hodgkin syndrome. A comprehensive overview of the dermatological signs and symptoms in these syndromes was generated from the database of the Ectodermal Dysplasia Network Germany, the clinical findings in the patients seen in our department and an extensive review of the literature. The findings included abnormalities of skin, sweating, hair and nails. These clinical findings are discussed in relation to the underlying molecular defects known to play a role in these four ectodermal dysplasia syndromes.

Bertolotti's syndrome: a case report.

Science.gov (United States)

Mitra, Raj; Carlisle, Mark

2009-01-01

A case report and literature review is presented. To review relevant data for the management of Bertolotti's syndrome and to determine whether the transverse process-ilium articulation may be a pain generator. Bertolotti's syndrome is associated with axial low back pain secondary to arthritic changes; the pain generator in the disorder is unclear. We present a case report of symptomatic Bertolotti's syndrome managed with intra-articular steroid injections. A patient with Bertolotti's syndrome had significant relief of axial pain after steroid injection of the ilium-transverse process articulation. Steroid therapy may be a non-surgical alternative for the treatment of symptomatic Bertolotti's syndrome.

Episodic Laryngeal Breathing Disorders: Literature Review and Proposal of Preliminary Theoretical Framework.

Science.gov (United States)

Shembel, Adrianna C; Sandage, Mary J; Verdolini Abbott, Katherine

2017-01-01

The purposes of this literature review were (1) to identify and assess frameworks for clinical characterization of episodic laryngeal breathing disorders (ELBD) and their subtypes, (2) to integrate concepts from these frameworks into a novel theoretical paradigm, and (3) to provide a preliminary algorithm to classify clinical features of ELBD for future study of its clinical manifestations and underlying pathophysiological mechanisms. This is a literature review. Peer-reviewed literature from 1983 to 2015 pertaining to models for ELBD was searched using Pubmed, Ovid, Proquest, Cochrane Database of Systematic Reviews, and Google Scholar. Theoretical models for ELBD were identified, evaluated, and integrated into a novel comprehensive framework. Consensus across three salient models provided a working definition and inclusionary criteria for ELBD within the new framework. Inconsistencies and discrepancies within the models provided an analytic platform for future research. Comparison among three conceptual models-(1) Irritable larynx syndrome, (2) Dichotomous triggers, and (3) Periodic occurrence of laryngeal obstruction-showed that the models uniformly consider ELBD to involve episodic laryngeal obstruction causing dyspnea. The models differed in their description of source of dyspnea, in their inclusion of corollary behaviors, in their inclusion of other laryngeal-based behaviors (eg, cough), and types of triggers. The proposed integrated theoretical framework for ELBD provides a preliminary systematic platform for the identification of key clinical feature patterns indicative of ELBD and associated clinical subgroups. This algorithmic paradigm should evolve with better understanding of this spectrum of disorders and its underlying pathophysiological mechanisms. Copyright © 2017 The Voice Foundation. Published by Elsevier Inc. All rights reserved.

Ellis Van Creveld Syndrome: Report of a Case and Brief Literature Review

OpenAIRE

Gholamhossein Amirhakimi; Hedyeh Saneifard

2008-01-01

Objective: Ellis van Creveld syndrome (EvCS) is a rare autosomal recessive (AR) disorder first described in 1940. The syndrome manifests with several skeletal, oral mucosal and dental anomalies, congenital cardiac defects and nail dysplasia. EvCs should be differentiated from other chondrodystrophies such as achondroplasia and Morquios syndrome.Case Presentation: A nine-year old girl was referred with short stature. In physical examination her height was 105 cm. She had normal intelligence, s...

Gluteal Black Market Silicone–induced Renal Failure: A Case Report and Literature Review

Directory of Open Access Journals (Sweden)

Andrea Matson, DO, PGY-2

2017-11-01

Full Text Available Summary:. Very few cases of successful surgical treatment for renal failure due to gluteal silicone injections have been reported in the literature. The silicone toxicity and subsequent renal failure seem to follow repetitive silicone injections and silicone injections in large quantities. This is a case of a 31-year-old woman who developed renal failure after 6 years of gluteal silicone injections who underwent radical resection of bilateral gluteal regions in an attempt to mitigate her impending complete renal failure. A systematic review of the literature was conducted using PubMed database and with assistance from medical library staff to conduct keyword searches for “Silicone,” “Renal failure,” “Silicone emboli syndrome,” “Silicone granuloma,” and “Silicone end organ toxicity.” The search results were reviewed by the authors and selected based on the relevance to the case report presented. Extensive literature relating to silicone granulomas and their systemic effects supports the use of steroids for immediate treatment and eventual surgical resection for cure of the various silicone-related end-organ toxicities including renal failure.

Familial Recurrence of 3MC Syndrome in Consanguineous Families: A Clinical and Molecular Diagnostic Approach With Review of the Literature.

Science.gov (United States)

Gardner, Olivia K; Haynes, Karla; Schweitzer, Daniela; Johns, Alexis; Magee, William P; Urata, Mark M; Sanchez-Lara, Pedro A

2017-11-01

We report four individuals from two unrelated consanguineous families with 3MC syndrome. In the first family, chromosome microarray data revealed that the two affected sisters, born to first-cousin parents, shared a unique homozygous C-terminal deletion in the COLEC11 gene. Two affected brothers from a second family, also born to first-cousin parents, shared a region of homozygosity that included the second gene known to cause the 3MC syndrome, MASP1. We discuss the diagnostic approach of craniofacial disorders born to consanguineous parents and highlight a literature search and reference a helpful dysmorphology solution powered by FDNA (Facial Dysmorphology Novel Analysis) technology.

Selenium intake and metabolic syndrome: A systematic review.

Science.gov (United States)

Retondario, Anabelle; Fernandes, Ricardo; Rockenbach, Gabriele; Alves, Mariane de Almeida; Bricarello, Liliana Paula; Trindade, Erasmo Benicio Santos de Moraes; Vasconcelos, Francisco de Assis Guedes de

2018-03-02

Metabolic syndrome is a multi-causal disease. Its treatment includes lifestyle changes with a focus on weight loss. This systematic review assessed the association between Selenium intake and metabolic syndrome. Data were collected mainly from four databases: PubMed, CENTRAL (Cochrane), Scopus and Web of Knowledge. Keywords related to metabolic syndrome, selenium, as well as metabolic syndrome features were searched. This review followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) Statement. A systematic review protocol was registered at PROSPERO (n. 42016046321). Two reviewers independently screened 2957 abstracts. Six studies were included to perform data extraction with standardized spreadsheets. The risk of bias was assessed by using specific tools according to the design of the relevant studies. An assessment was carried out based on the appropriateness of the study reports accordingly to STROBE and the CONSORT-based checklist for each study design. Three studies found no association between Selenium intake and metabolic syndrome; two of them found an inverse association; and one study found a direct association between Selenium intake and metabolic syndrome. One study also showed an inverse association between Selenium intake and the prevalence of high waist circumference, high diastolic blood pressure, and hyperglycaemia in women. Overall, based on the argumentation and results of this study, it is possible to conclude that Selenium intake and metabolic syndrome are not clearly associated in adults and elderly. Copyright © 2018 Elsevier Ltd and European Society for Clinical Nutrition and Metabolism. All rights reserved.

Postural tachycardia syndrome and other forms of orthostatic intolerance in Ehlers-Danlos syndrome.

Science.gov (United States)

Roma, Maria; Marden, Colleen L; De Wandele, Inge; Francomano, Clair A; Rowe, Peter C

2018-03-05

To review the association between orthostatic intolerance syndromes and both joint hypermobility and Ehlers-Danlos syndrome, and to propose reasons for identifying hereditary connective tissue disorders in those with orthostatic intolerance in the context of both clinical care and research. We searched the published peer-reviewed medical literature for papers reporting an association between joint hypermobility or Ehlers-Danlos syndrome and orthostatic intolerance. We identified 10 relevant papers. Although methodological variability between studies introduces some limitations, the published literature consistently identifies a significantly higher prevalence of orthostatic intolerance symptoms in patients with joint hypermobility or Ehlers-Danlos syndrome than in healthy controls, and a significantly higher prevalence of cardiovascular and autonomic abnormalities both at rest and during orthostatic challenge. Postural tachycardia syndrome is the most commonly recognized circulatory disorder. The severity of orthostatic symptoms in those with EDS correlates with impairments in quality of life. There is a strong association between several forms of cardiovascular dysfunction, most notably postural tachycardia syndrome, and joint hypermobility or Ehlers-Danlos syndrome. We propose that recognition of joint hypermobility and Ehlers-Danlos syndrome among those with orthostatic intolerance syndromes has the potential to improve clinical care and the validity of research findings. Copyright © 2018 Elsevier B.V. All rights reserved.

Calcium and Vitamin D Metabolism in Pediatric Nephrotic Syndrome; An Update on the Existing Literature

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Mohammad Esmaeeili

2015-03-01

Full Text Available  Minimal Change Disease (MCD is the leading cause of childhood Nephrotic Syndrome (NS. Therefore in pediatrics nephrotic syndrome, most children beyond the first year of life will be treated with corticosteroids without an initial biopsy. Children with NS often display a number of calcium homeostasis disturbances causing abnormal bone histology, including hypocalcemia, reduced serum vitamin D metabolites, impaired intestinal absorption of calcium, and elevated levels of immunoreactive parathyroid hormone (iPTH. These are mainly attributed to the loss of a variety of plasma proteins and minerals in the urine as well as steroid therapy. Early diagnosis and management of these abnormalities, could prevent the growth retardation and renal osteodystrophy that affects children with nephrotic syndrome. Here we reviewed the literature for changes of calcium and vitamin D metabolism in nephrotic syndrome and its consequences on bones, also the effect of corticosteroid and possible preventive strategies that could be done to avoid long term outcomes in children. Although the exact biochemical basis for Changes in levels of calcium and vitamin D metabolites in patients with NS remains speculative; Because of the potential adverse effects of these changes among growing children, widespread screening for vitamin D deficiency or routine vitamin D supplementation should be considered.

Neural tube defects in Waardenburg syndrome: A case report and review of the literature.

Science.gov (United States)

Hart, Joseph; Miriyala, Kalpana

2017-09-01

Waardenburg syndrome type 1 (WS1) is an autosomal dominant genetic condition characterized by sensorineural deafness and pigment abnormalities, and is caused by variants in the PAX3 homeodomain. PAX3 variants have been associated with severe neural tube defects in mice and humans, but the frequency and clinical manifestations of this symptom remain largely unexplored in humans. Consequently, the role of PAX3 in human neural tube formation remains a study of interest, for clinical as well as research purposes. Though the association between spina bifida and WS1 is now well-documented, no study has attempted to characterize the range of spina bifida phenotypes seen in WS. Spina bifida encompasses several diagnoses with a wide scope of clinical severity, ranging from spina bifida occulta to myelomeningocele. We present a patient with Waardenburg syndrome type 1 caused by a novel missense variant in PAX3, presenting with myelomeningocele, Arnold-Chiari malformation, and hydrocephalus at birth. Additionally, we review 32 total cases of neural tube defects associated with WS. Including this report, there have been 15 published cases of myelomeningocele, 10 cases of unspecified spina bifida, 3 cases of sacral dimples, 0 cases of meningocele, and 4 cases of miscellaneous other neural tube defects. Though the true frequency of each phenotype cannot be determined from this collection of cases, these results demonstrate that Waardenburg syndrome type 1 carries a notable risk of severe neural tube defects, which has implications in prenatal and genetic counseling. © 2017 Wiley Periodicals, Inc.

Cogan's syndrome is a new nosological entity in the current classification of systemic vasculitides: A clinical case and a review of literature

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T. V. Beketova

2016-01-01

Full Text Available The paper describes a clinical case of the typical variant of Cogan's syndrome (CS, a new nosological entity in the current classification of systemic vasculitides (SV, which belongs to a group of variable vasculitides. The literature review highlights in detail the problems of the diagnosis and treatment of this rare disease.CS is characterized by inflammatory eye involvement (interstitial keratitis, uveitis, and episcleritis and hearing problems (sensorineural hearing loss, vestibular disorders with the possible development of vasculitis at other sites, aortitis, and aortic or mitral lesions. A systemic lesion involving the ears and eyes necessitates to rule out granulomatosis with polyangiitis (Wegener's and to make a differential diagnosis with a wide range of diseases. The given data underline the need for the interdisciplinary collaboration of rheumatologists, otorhinolaryngologists, audiologists, oculists, and cardiologists in order to improve the diagnosis and treatment of this form of SV. 

a literature review

African Journals Online (AJOL)

user

Dr Nicholas Z Kakava. School of Business Sciences & Management. Chinhoyi University of Technology. Zimbabwe. Waiting as a determinant of store image and customer satisfaction: A literature review. 99 ... jective experience and the associated frustration is not necessarily related to an objective meas- urement of time.

Twin anemia polycythemia sequence: a single center experience and literature review.

Science.gov (United States)

Moaddab, Amirhossein; Nassr, Ahmed A; Espinoza, Jimmy; Ruano, Rodrigo; Bateni, Zhoobin H; Shamshirsaz, Amir A; Mandy, George T; Welty, Stephen E; Erfani, Hadi; Popek, Edwina J; Belfort, Michael A; Shamshirsaz, Alireza A

2016-10-01

Twin anemia polycythemia sequence (TAPS) is defined by significant intertwin hemoglobin discordance without the amniotic fluid discordance that characterizes twin-twin-transfusion syndrome (TTTS) in monochorionic twin pregnancies. TAPS is an uncommon condition which can either occur spontaneously, or following fetoscopic laser ablation for TTTS. This complication is thought to result from chronic transfusion through very small placental anastomoses; however, the pathogenesis of TAPS remains unknown. Consequently, there is no consensus in the management of TAPS. In this article, three cases of TAPS are described and we review the literature on this uncommon pregnancy complication. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Thyroid cancer in a patient with Lynch syndrome - case report and literature review.

Science.gov (United States)

Fazekas-Lavu, Monika; Parker, Andrew; Spigelman, Allan D; Scott, Rodney J; Epstein, Richard J; Jensen, Michael; Samaras, Katherine

2017-01-01

Lynch syndrome describes a familial cancer syndrome comprising germline mutations in one of four DNA mismatch repair genes, MLH1 , MSH2 , MSH6 , and PMS2 and is characterized by colorectal, endometrial, and other epithelial malignancies. Thyroid cancer is not usually considered to be part of the constellation of Lynch syndrome cancers nor have Lynch syndrome tumor gene mutations been reported in thyroid malignancies. This study reports a woman with Lynch syndrome (colonic cancer and a DNA mismatch repair mutation in the MSH2 gene) with a synchronous papillary thyroid cancer. Six years later, she developed metachronous breast cancer. Metastatic bone disease developed after 3 years, and the disease burden was due to both breast and thyroid diseases. Despite multiple interventions for both metastatic breast and thyroid diseases, the patient's metastatic burden progressed and she died of leptomeningeal metastatic disease. Two prior case reports suggested thyroid cancer may be an extraintestinal malignancy of the Lynch syndrome cancer group. Hence, this study examined the genetic relationship between the patient's known Lynch syndrome and her thyroid cancer. The thyroid cancer tissue showed normal expression of MSH2 , suggesting that the tumor was not due to the oncogenic mutation of Lynch syndrome, and molecular analysis confirmed BRAF V600E mutation. Although in this case the thyroid cancer was sporadic, it raises the importance of considering cancer genetics in familial cancer syndromes when other cancers do not fit the criteria of the syndrome. Careful documentation of other malignancies in patients with thyroid cancer and their families would assist in better understanding of any potential association. Appropriate genetic testing will clarify whether a common pathogenic mechanism links seemingly unrelated cancers.

Inability to have children caused by recurrent HELLP syndrome in early pregnancies - implications for a review of literature.

Science.gov (United States)

Pawelec, Małgorzata; Karmowski, Andrzej; Karmowski, Mikołaj; Krzemieniewska, Joanna; Kulczycka, Aleksandra; Gabryś, Marian Stanisław; Koryś, Jerzy; Gworys, Bohdan

2013-01-01

This review is inspired by a case of two pregnancies of the same patient complicated by HELLP syndrome, which suggests that there is a predisposition for the occurrence of preeclampsia and HELLP syndrome in early pregnancy. HELLP syndrome, uncommon below the 20th week and rarer still in two consecutive pregnancies, appeared in two pregnancies of the same woman. The aim of our work is to try to understand the cause of heterogeneity of HELLP syndrome and help find a way of prolonging such pregnancies. Recurrent HELLP syndrome in early pregnancy is a form of severe, fulminant preeclampsia. The preceding symptom is a surge in blood pressure. The hypertension becomes resistant to antihypertensive drugs, which indicates that preexisting hypertension is later accompanied by other factors contributing to the rise in blood pressure. Different effects of high dosage of corticosteroids on liver and platelets show that there are different factors responsible for liver damage and for thrombocytopenia. It seems that the symptoms have various origins, so the therapy with one drug only is not sufficiently effective. Nicotine analogues or a plant extract (from rootstock of Eriosema kraussianum) used by South African traditional healers for erectile dysfunction seem to give a chance of prolonging pregnancy and, consequently, having children.

Anaesthesia Management in a Patient with Waardenburg Syndrome and Review of the Literature.

Science.gov (United States)

Peker, Kevser; Ergil, Julide; Öztürk, İbrahim

2015-10-01

Waardenburg syndrome is a rare autosomal dominant disease that may cause hearing loss, pigmentary abnormalities, neurocristopathy and partial albinism. Incidence is estimated as 2%-3% among the cases of congenital deafness and 1/42,000 of the general population. Children with Waardenburg syndrome usually require anaesthesia for the cochlear implant operation in early age. The features of the syndrome that may bear importance for anaesthetic management are laryngomalacia, multiple muscle contractures, limited neck movements, cyanotic cardiopathy and electrolyte imbalance. Patients with Waardenburg syndrome stand for difficult airway. We aimed to report anaesthetic management of a child with Waardenburg syndrome who underwent surgery for cochlear implantation.

The Role of Genetic, Dietary and Lifestyle Factors in Pediatric Metabolic Syndrome: A Review of the Literature from Prenatal to Adolescence

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Teresa Arora

2017-04-01

Full Text Available The metabolic syndrome (MetS is described as a cluster of health conditions that are associated with an increased risk of cardiovascular disease. The clinical diagnosis of MetS in pediatrics is challenging due to differing criteria, although the estimated prevalence continues to rise. The increased prevalence of childhood obesity and insulin resistance, in both developed and developing countries, is believed to be a major contributor to MetS diagnosis in children. We review the current literature surrounding genetic predisposition, maternal influence, epigenetics, environmental and lifestyle factors pertaining to pediatric MetS with a specific emphasis on obesity and insulin resistance. We highlight and discuss recent, key studies in prenatal through to adolescent populations and review evidence suggesting that children may be pre-disposed to obesity and insulin resistance, prenatally. We also discuss several key lifestyle drivers of these conditions including poor nutrition and dietary habits, insufficient physical activity, use of electronic devices, over-consumption of caffeinated and/or sugar-sweetened beverages, as well as the importance of sleep during childhood and adolescence in relation to metabolic health. We conclude with recommendations for preventable methods to tackle this growing pediatric public health issue, which, if current trends continue, will undoubtedly compromise the health and longevity of the next adult generation.

Voltage-gated potassium channel-associated limbic encephalitis in the West of Scotland: case reports and literature review.

Science.gov (United States)

Reid, J M; Foley, P; Willison, H J

2009-11-01

The syndrome of limbic encephalitis (LE) associated with antibodies against voltage-gated potassium channels (VGKC-LE) has recently been described. The number of published cases is however small. We therefore aimed to review all cases seen at our centre and compare with published cases. Retrospective cases of VGKC-LE were identified using a questionnaire to Neurologists at the Southern General hospital, Glasgow, and by reviewing patients with a positive VGKC antibody test (2002-2007). Case-note review of identified cases and a literature review of all published cases of VGKC-LE were performed. Seven cases were identified (four female, age range 51-81). Patients presented sub-acutely with seizures and anterograde memory loss. Five patients had medial temporal lobe change on cranial imaging. No paraneoplastic cases were identified. 5/7 patients made some improvement with immunotherapy. In 2006, 3/18 (17%) patients with a coded discharge of encephalitis were diagnosed with VGKC-LE. The literature review revealed 40 patients with VGKC-LE. Age, gender or VGKC level did not predict likelihood for a significant recovery. Patients treated VGKC-LE is being increasingly diagnosed and is best identified early and treated with immunotherapy to offer the greatest chance of recovery. This series and literature review expands the current published evidence in VGKC-LE.

Using Restaurant Reviews to Teach How to Write Literature Reviews

Science.gov (United States)

Smith, Kelli Jean K.; Ferris, Sharmila Pixy

2017-01-01

Courses: Any communication course requiring a literature review, including, but is not limited to, Communication Research Methods and Communication Theory. Objectives: After completing this activity, students should be able to write better literature reviews by (1) locating a range of resources; (2) identifying a variety of relevant information…

Phenotype–genotype spectrum of AAA syndrome from Western India and systematic review of literature

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Hiren Patt

2017-11-01

Full Text Available Objective: To study genotype–phenotype spectrum of triple A syndrome (TAS. Methods: Retrospective chart analysis of Indian TAS patients (cohort 1, n = 8 and review of genotyped TAS cases reported in world literature (cohort 2, n = 133, 68 publications. Results: Median age at presentation was 4.75 years (range: 4–10 and 5 years (range: 1–42 for cohorts 1 and 2, respectively. Alacrima, adrenal insufficiency (AI, achalasia and neurological dysfunction (ND were seen in 8/8, 8/8, 7/8 and 4/8 patients in cohort 1, and in 99, 91, 93 and 79% patients in cohort 2, respectively. In both cohorts, alacrima was present since birth while AI and achalasia manifested before ND. Mineralocorticoid deficiency (MC was uncommon (absent in cohort 1, 12.5% in cohort 2. In cohort 1, splice-site mutation in exon 1 (p.G14Vfs*45 was commonest, followed by a deletion in exon 8 (p.S255Vfs*36. Out of 65 mutations in cohort 2, 14 were recurrent and five exhibited regional clustering. AI was more prevalent, more often a presenting feature, and was diagnosed at younger age in T group (those with truncating mutations as compared to NT (non-truncating mutations group. ND was more prevalent, more common a presenting feature, with later age at onset in NT as compared to T group. Conclusion: Clinical profile of our patients is similar to that of patients worldwide. Alacrima is the earliest and most consistent finding. MC deficiency is uncommon. Some recurrent mutations show regional clustering. p.G14Vfs*45 and p.S255Vfs*36 account for majority of AAAS mutations in our cohort. Phenotype of T group differs from that of NT group and merits future research.

Phenotype–genotype spectrum of AAA syndrome from Western India and systematic review of literature

Science.gov (United States)

Patt, Hiren; Koehler, Katrin; Lodha, Sailesh; Yerawar, Chaitanya; Huebner, Angela; Thakkar, Kunal; Arya, Sneha; Nair, Sandhya; Goroshi, Manjunath; Ganesh, Hosahithlu; Sarathi, Vijaya; Lila, Anurag; Bandgar, Tushar; Shah, Nalini

2017-01-01

Objective To study genotype–phenotype spectrum of triple A syndrome (TAS). Methods Retrospective chart analysis of Indian TAS patients (cohort 1, n = 8) and review of genotyped TAS cases reported in world literature (cohort 2, n = 133, 68 publications). Results Median age at presentation was 4.75 years (range: 4–10) and 5 years (range: 1–42) for cohorts 1 and 2, respectively. Alacrima, adrenal insufficiency (AI), achalasia and neurological dysfunction (ND) were seen in 8/8, 8/8, 7/8 and 4/8 patients in cohort 1, and in 99, 91, 93 and 79% patients in cohort 2, respectively. In both cohorts, alacrima was present since birth while AI and achalasia manifested before ND. Mineralocorticoid deficiency (MC) was uncommon (absent in cohort 1, 12.5% in cohort 2). In cohort 1, splice-site mutation in exon 1 (p.G14Vfs*45) was commonest, followed by a deletion in exon 8 (p.S255Vfs*36). Out of 65 mutations in cohort 2, 14 were recurrent and five exhibited regional clustering. AI was more prevalent, more often a presenting feature, and was diagnosed at younger age in T group (those with truncating mutations) as compared to NT (non-truncating mutations) group. ND was more prevalent, more common a presenting feature, with later age at onset in NT as compared to T group. Conclusion Clinical profile of our patients is similar to that of patients worldwide. Alacrima is the earliest and most consistent finding. MC deficiency is uncommon. Some recurrent mutations show regional clustering. p.G14Vfs*45 and p.S255Vfs*36 account for majority of AAAS mutations in our cohort. Phenotype of T group differs from that of NT group and merits future research. PMID:29180348

Juvenile Moyamoya and Craniosynostosis in a Child with Deletion 1p32p31: Expanding the Clinical Spectrum of 1p32p31 Deletion Syndrome and a Review of the Literature

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Paolo Prontera

2017-09-01

Full Text Available Moyamoya angiopathy (MA is a rare cerebrovascular disorder characterised by the progressive occlusion of the internal carotid artery. Its aetiology is uncertain, but a genetic background seems likely, given the high MA familial rate. To investigate the aetiology of craniosynostosis and juvenile moyamoya in a 14-year-old male patient, we performed an array-comparative genomic hybridisation revealing a de novo interstitial deletion of 8.5 Mb in chromosome region 1p32p31. The deletion involved 34 protein coding genes, including NF1A, whose haploinsufficiency is indicated as being mainly responsible for the 1p32-p31 chromosome deletion syndrome phenotype (OMIM 613735. Our patient also has a deleted FOXD3 of the FOX gene family of transcription factors, which plays an important role in neural crest cell growth and differentiation. As the murine FOXD3−/− model shows craniofacial anomalies and abnormal common carotid artery morphology, it can be hypothesised that FOXD3 is involved in the pathogenesis of the craniofacial and vascular defects observed in our patient. In support of our assumption, we found in the literature another patient with a syndromic form of MA who had a deletion involving another FOX gene (FOXC1. In addition to describing the clinical history of our patient, we have reviewed all of the available literature concerning other patients with a 1p32p31 deletion, including cases from the Decipher database, and we have also reviewed the genetic disorders associated with MA, which is a useful guide for the diagnosis of syndromic form of MA.

Ortner’s syndrome: a case report and literature review

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Bruno Landim Dutra

2015-08-01

Full Text Available AbstractThe authors report the case of a 55-year-old female, hypertensive, smoker patient presenting with dysphonia, dysphagia and persistent dry cough. Laryngoscopy diagnosed left vocal cord paralysis. Computed tomography demonstrated saccular aneurysm of the inferior wall of the aortic arch, stretching the left recurrent laryngeal nerve, a finding compatible with Ortner’s syndrome.

Breast Carcinoma Associated with Poland's Syndrome: One Case Report and Literatures Review

Institute of Scientific and Technical Information of China (English)

Xin Wang; Liansheng Ning

2008-01-01

@@ Introduction Poland's syndrome is a rare congenital anomaly,characterized by abnormalities of the chest wall,breast,spine and upper limb.The incidence of this syndrome has been estimated to be 1:30000.The pathogenesis is still uncleart[1].

Prune belly syndrome associated with incomplete VACTERL

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Ghritlaharey R

2007-01-01

Full Text Available A Prune Belly syndrome with VATER/VACTERL association is an extremely rare. They are either stillborn or die within few days of life, only few such cases have been reported in literature. We are presenting here a male neonate of Prune Belly syndrome associated with incomplete VACTERL with brief review of literature.

Debates Regarding Lean Patients with Polycystic Ovary Syndrome: A Narrative Review.

Science.gov (United States)

Goyal, Manu; Dawood, Ayman S

2017-01-01

Polycystic ovary syndrome (PCOS) is a complex syndrome showing the clinical features of an endocrine/metabolic disorder, including hyperinsulinemia and hyperandrogenism. Two phenotypes are present, either lean or obese, with different biochemical, hormonal, and metabolic profiles. Evidence suggests many treatment modalities that can be applied. However, many of these modalities were found to be not suitable for the lean phenotype of PCOS. Much contradictory research was found regarding lean patients with PCOS. The aim of this narrative review is to shed light on the debate prevailing regarding characteristics, as well as metabolic, hematological, and potential management modalities. Literature review was performed from January 1, 2000 to March 31, 2017 with specific word search such as lean PCOS, hormonal abnormalities in lean PCOS, and the management of lean PCOS. All retrieved articles were carefully assessed, and data were obtained. We could conclude that the debate is still prevailing regarding this specific lean population with PCOS, especially with regard to their characteristics and management modalities. Further studies are still required to resolve this debate on the presence of PCOS in lean women.

Debates regarding lean patients with polycystic ovary syndrome: A narrative review

Directory of Open Access Journals (Sweden)

Manu Goyal

2017-01-01

Full Text Available Polycystic ovary syndrome (PCOS is a complex syndrome showing the clinical features of an endocrine/metabolic disorder, including hyperinsulinemia and hyperandrogenism. Two phenotypes are present, either lean or obese, with different biochemical, hormonal, and metabolic profiles. Evidence suggests many treatment modalities that can be applied. However, many of these modalities were found to be not suitable for the lean phenotype of PCOS. Much contradictory research was found regarding lean patients with PCOS. The aim of this narrative review is to shed light on the debate prevailing regarding characteristics, as well as metabolic, hematological, and potential management modalities. Literature review was performed from January 1, 2000 to March 31, 2017 with specific word search such as lean PCOS, hormonal abnormalities in lean PCOS, and the management of lean PCOS. All retrieved articles were carefully assessed, and data were obtained. We could conclude that the debate is still prevailing regarding this specific lean population with PCOS, especially with regard to their characteristics and management modalities. Further studies are still required to resolve this debate on the presence of PCOS in lean women.

Optimizing literature search in systematic reviews

DEFF Research Database (Denmark)

Aagaard, Thomas; Lund, Hans; Juhl, Carsten Bogh

2016-01-01

BACKGROUND: When conducting systematic reviews, it is essential to perform a comprehensive literature search to identify all published studies relevant to the specific research question. The Cochrane Collaborations Methodological Expectations of Cochrane Intervention Reviews (MECIR) guidelines...... of musculoskeletal disorders. METHODS: Data sources were systematic reviews published by the Cochrane Musculoskeletal Review Group, including at least five RCTs, reporting a search history, searching MEDLINE, EMBASE, CENTRAL, and adding reference- and hand-searching. Additional databases were deemed eligible...... if they indexed RCTs, were in English and used in more than three of the systematic reviews. Relative recall was calculated as the number of studies identified by the literature search divided by the number of eligible studies i.e. included studies in the individual systematic reviews. Finally, cumulative median...

Systematic review of chronic pain in persons with Marfan syndrome.

Science.gov (United States)

Velvin, G; Bathen, T; Rand-Hendriksen, S; Geirdal, A Ø

2016-06-01

The purpose of this study was to explore the literature on chronic pain in adults with Marfan syndrome (MFS), critically appraising and synthesizing relevant literature. A systematic review was conducted by searching the published literature databases using available medical, physical, psychological, social databases and other sources. All studies that addressed pain in MFS, published in peer-reviewed journals were assessed. Of 351 search results, 18 articles satisfied the eligibility criteria. All studies were cross-sectional and quantitative; no randomized controlled trials or intervention studies were found. Most studies had small sample sizes, low response rates and mainly dealt with other aspects of the diagnosis than pain. Only one article dealt mainly with pain. The research on chronic pain in MFS is limited in size and quality. Despite these limitations, studies describe that the prevalence of pain in patients with MFS is high, varying from 47 to 92% and affecting several anatomic sites. In addition, chronic pain limits daily function and few studies describe treatment options for pain in patients with MFS. Research is needed to obtain more evidence-based knowledge for developing more appropriate rehabilitation programs for people with MFS. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

TRANSPORT THROUGH CRACKED CONCRETE: LITERATURE REVIEW

Energy Technology Data Exchange (ETDEWEB)

Langton, C.

2012-05-11

Concrete containment structures and cement-based fills and waste forms are used at the Savannah River Site to enhance the performance of shallow land disposal systems designed for containment of low-level radioactive waste. Understanding and measuring transport through cracked concrete is important for describing the initial condition of radioactive waste containment structures at the Savannah River Site (SRS) and for predicting performance of these structures over time. This report transmits the results of a literature review on transport through cracked concrete which was performed by Professor Jason Weiss, Purdue University per SRR0000678 (RFP-RQ00001029-WY). This review complements the NRC-sponsored literature review and assessment of factors relevant to performance of grouted systems for radioactive waste disposal. This review was performed by The Center for Nuclear Waste Regulatory Analyses, San Antonio, TX, and The University of Aberdeen, Aberdeen Scotland and was focused on tank closure. The objective of the literature review on transport through cracked concrete was to identify information in the open literature which can be applied to SRS transport models for cementitious containment structures, fills, and waste forms. In addition, the literature review was intended to: (1) Provide a framework for describing and classifying cracks in containment structures and cementitious materials used in radioactive waste disposal, (2) Document the state of knowledge and research related to transport through cracks in concrete for various exposure conditions, (3) Provide information or methodology for answering several specific questions related to cracking and transport in concrete, and (4) Provide information that can be used to design experiments on transport through cracked samples and actual structures.

Transport Through Cracked Concrete: Literature Review

International Nuclear Information System (INIS)

Langton, C.

2012-01-01

Concrete containment structures and cement-based fills and waste forms are used at the Savannah River Site to enhance the performance of shallow land disposal systems designed for containment of low-level radioactive waste. Understanding and measuring transport through cracked concrete is important for describing the initial condition of radioactive waste containment structures at the Savannah River Site (SRS) and for predicting performance of these structures over time. This report transmits the results of a literature review on transport through cracked concrete which was performed by Professor Jason Weiss, Purdue University per SRR0000678 (RFP-RQ00001029-WY). This review complements the NRC-sponsored literature review and assessment of factors relevant to performance of grouted systems for radioactive waste disposal. This review was performed by The Center for Nuclear Waste Regulatory Analyses, San Antonio, TX, and The University of Aberdeen, Aberdeen Scotland and was focused on tank closure. The objective of the literature review on transport through cracked concrete was to identify information in the open literature which can be applied to SRS transport models for cementitious containment structures, fills, and waste forms. In addition, the literature review was intended to: (1) Provide a framework for describing and classifying cracks in containment structures and cementitious materials used in radioactive waste disposal, (2) Document the state of knowledge and research related to transport through cracks in concrete for various exposure conditions, (3) Provide information or methodology for answering several specific questions related to cracking and transport in concrete, and (4) Provide information that can be used to design experiments on transport through cracked samples and actual structures.

Synthesising the literature as part of a literature review.

Science.gov (United States)

Wakefield, Ann

2015-03-18

This article examines how to synthesise and critique research literature. To place the process of synthesising the research literature into context, the article explores the critiquing process by breaking it down into seven sequential steps. The article explains how and why these steps need to be kept in mind if a robust comprehensive literature search and analysis are to be achieved. The article outlines how to engage in the critiquing process and explains how the literature review needs to be assembled to generate a logical and reasoned debate to examine a topic of interest or research in more detail.

Tumour lysis syndrome: A rare acute presentation of locally advanced testicular cancer – Case report and review of literature

Directory of Open Access Journals (Sweden)

Marcus Chow

2016-01-01

Full Text Available Tumour lysis syndrome (TLS is a potentially fatal complication of malignancy or its treatment. This uncommon syndrome comprises laboratory findings of hyperuricaemia, hypocalcaemia, hyperkalaemia and hyperphosphataemia. A literature search revealed a total of eight patients, with testicular cancer, who had TLS. All these patients had metastatic disease. We present a unique case of a 47-year-old gentleman we saw in clinic, who presented with a rapidly growing right groin mass and acute breathlessness, and discuss the diagnosis and management of TLS. TLS is extremely rare in testicular cancer but necessitates the awareness of urologists. TLS can occur spontaneously in testicular malignancy. Cell lysis in a rapidly proliferating germ cell tumour is a possible mechanism. The prompt identification and institution of management for TLS is crucial to improve clinical outcomes.

Psychiatric and neuropsychological issues in Marfan syndrome: A critical review of the literature.

Science.gov (United States)

Gritti, Antonella; Pisano, Simone; Catone, Gennaro; Iuliano, Raffaella; Salvati, Tiziana; Gritti, Paolo

2015-01-01

The cooccurrence of Marfan syndrome and psychiatric disorders has been reported for many years. Furthermore, neuropsychological deficits have been shown to be associated with Marfan syndrome. The aim of the present article is to summarize findings from the sparse studies and case reports available. The results hold clinical and therapeutic implications and suggest that psychological and neuropsychological domains in Marfan syndrome patients should be carefully assessed. In particular, some patients may require specific rehabilitation programs. On this basis, a multidisciplinary approach to Marfan syndrome treatment seems mandatory. © The Author(s) 2015.

Miliary tuberculosis with no pulmonary involvement in myelodysplastic syndromes: a curable, yet rarely diagnosed, disease: case report and review of the literature

Directory of Open Access Journals (Sweden)

Krambovitis Elias

2008-03-01

Full Text Available Abstract Background Although tuberculosis is not uncommon among patients with myelodysplastic syndrome (MDS, only a few reports of such patients suffering from miliary tuberculosis (MT exist. MT often presents as a fever of unknown origin and it is a curable disease, yet fatal if left untreated. Case presentation We report a case of MT with no clinical or laboratory indications of pulmonary involvement in a patient with MDS, and review the relevant literature. Mycobacterium tuberculosis was isolated from the liquid culture of a bone marrow aspirate. Conclusion Even if the initial diagnostic investigation for a fever of obscure etiology is negative, MT should not be excluded from the differential diagnosis list. Since it is a curable disease, persistent and vigorous diagnostic efforts are warranted. In suspected cases, mycobacterial blood cultures should be collected as soon as possible after hospital admission and early bone marrow aspirate with mycobacterial cultures is advocated.

McCune-Albright Syndrome: A Case Report and Literature Review

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Moein Mobini

2014-04-01

Full Text Available McCune-Albright syndrome (MAS is a rare, heterogenous, clinical condition caused by a rare genetic mutation. The disorder is more common in females and is characterized by a triad of cutaneous, bone and endocrine abnormalities.  We describe a girl patient with MAS having precocious puberty and multiple cafe-au-lait macules and deforming polyostotic fibrous dysplasia of bone. Clinical presentation and X-ray finding were strongly diagnostic for MAS, Patients with McCune-Albright syndrome reach the adult age with a significant burden of the disease that continuously reduces their quality of life. Skeletal deformities, fractures, hyperthyroidism, and hyperestrogenism are just few of the many challenges in the management of these patients. These disorders with close observation and early detection can be controlled.

Passive prosthetic hands and tools: A literature review.

Science.gov (United States)

Maat, Bartjan; Smit, Gerwin; Plettenburg, Dick; Breedveld, Paul

2018-02-01

The group of passive prostheses consists of prosthetic hands and prosthetic tools. These can either be static or adjustable. Limited research and development on passive prostheses has been performed although many people use these prosthesis types. Although some publications describe passive prostheses, no recent review of the peer-reviewed literature on passive prostheses is available. Review the peer-reviewed literature on passive prostheses for replacement of the hand. Literature review. Four electronic databases were searched using a Boolean combination of relevant keywords. English-language articles relevant to the objective were selected. In all, 38 papers were included in the review. Publications on passive prosthetic hands describe their users, usage, functionality, and problems in activities of daily living. Publications on prosthetic tools mostly focus on sport, recreation, and vehicle driving. Passive hand prostheses receive little attention in prosthetic research and literature. Yet one out of three people with a limb deficiency uses this type of prosthesis. Literature indicates that passive prostheses can be improved on pulling and grasping functions. In the literature, ambiguous names are used for different types of passive prostheses. This causes confusion. We present a new and clear classification of passive prostheses. Clinical relevance This review provides information on the users of passive prosthetic hands and tools, their usage and the functionality. Passive prostheses receive very little attention and low appreciation in literature. Passive prosthetic hands and tools show to be useful to many unilateral amputees and should receive more attention and higher acceptance.

Homework. Literature Review

Science.gov (United States)

Blazer, Christie

2009-01-01

Although homework is assigned for a variety of academic and non-academic purposes, there is disagreement within the educational community about the value of homework and the amount of homework students should be assigned. This Literature Review summarizes the benefits and drawbacks of homework and examines how much time students should and…

Eagle syndrome. A narrative review

Directory of Open Access Journals (Sweden)

Heber Arbildo

2016-09-01

Full Text Available Painful disorders in the maxillofacial region are common in dental practice. Most of these conditions are not properly diagnosed because of inadequate knowledge of craniofacial and cervico-pharyngeal syndromes such as Eagle Syndrome. The aim of this review is to describe the general aspects, diagnosis and treatment of Eagle syndrome. Eagle syndrome or stylohyoid syndrome was first described by Watt W. Eagle in 1937. It was defined as orofacial pain related to the elongation of the styloid process and ligament stylohyoid calcification. The condition is accompanied by symptoms such as dysphonia, dysphagia, sore throat, glossitis, earache, tonsillitis, facial pain, headache, pain in the temporomandibular joint and inability to perform lateral movements of the neck. Diagnosis and treatment of Eagle syndrome based on symptoms and radiographic examination of the patient will determine the need for surgical or nonsurgical treatment. Eagle syndrome is a complex disorder demanding a thorough knowledge of its signs and symptoms to make a correct diagnosis and provide an appropriate subsequent treatment. Disseminating information about this syndrome among medical-dental professionals is essential to provide adequate dental care to patients.

Immune Reconstitution Inflammatory Syndrome Unmasking or Worsening AIDS-Related Progressive Multifocal Leukoencephalopathy: A Literature Review

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Anna Fournier

2017-05-01

Full Text Available Incidence of progressive multifocal leukoencephalopathy (PML in HIV-infected patients has declined in the combined antiretroviral therapy (cART era although a growing number of acquired immunodeficiency syndrome (AIDS-related PML-immune reconstitution inflammatory syndromes (PML-IRIS have been published during the same period. Therapeutic management of PML-IRIS is not consensual and mainly relies on corticosteroids. Our main aim was, in addition to provide a thoughtful analysis of published PML-IRIS cases, to assess the benefit of corticosteroids in the management of PML-IRIS, focusing on confirmed cases. We performed a literature review of the 46 confirmed cases of PML-IRIS cases occurring in HIV-infected patients from 1998 to September 2016 (21 unmasking and 25 paradoxical PML-IRIS. AIDS-related PML-IRIS patients were mostly men (sex ratio 4/1 with a median age of 40.5 years (range 12–66. Median CD4 T cell count before cART and at PML-IRIS onset was 45/μl (0–301 and 101/μl (20–610, respectively. After cART initiation, PML-IRIS occurred within a median timescale of 38 days (18–120. Clinical signs were motor deficits (69%, speech disorders (36%, cognitive disorders (33%, cerebellar ataxia (28%, and visual disturbances (23%. Brain MRI revealed hyperintense areas on T2-weighted sequences and FLAIR images (76% and suggestive contrast enhancement (87%. PCR for John Cunningham virus (JCV in cerebrospinal fluid (CSF was positive in only 84% of cases; however, when performed, brain biopsy confirmed diagnosis of PML in 90% of cases and demonstrated histological signs of IRIS in 95% of cases. Clinical worsening related to PML-IRIS and leading to death was observed in 28% of cases. Corticosteroids were prescribed in 63% of cases and maraviroc in one case. Statistical analysis failed to demonstrate significant benefit from steroid treatment, despite spectacular improvement in certain cases. Diagnosis of PML-IRIS should be considered in HIV

Immune Reconstitution Inflammatory Syndrome Unmasking or Worsening AIDS-Related Progressive Multifocal Leukoencephalopathy: A Literature Review.

Science.gov (United States)

Fournier, Anna; Martin-Blondel, Guillaume; Lechapt-Zalcman, Emmanuèle; Dina, Julia; Kazemi, Apolline; Verdon, Renaud; Mortier, Emmanuel; de La Blanchardière, Arnaud

2017-01-01

Incidence of progressive multifocal leukoencephalopathy (PML) in HIV-infected patients has declined in the combined antiretroviral therapy (cART) era although a growing number of acquired immunodeficiency syndrome (AIDS)-related PML-immune reconstitution inflammatory syndromes (PML-IRIS) have been published during the same period. Therapeutic management of PML-IRIS is not consensual and mainly relies on corticosteroids. Our main aim was, in addition to provide a thoughtful analysis of published PML-IRIS cases, to assess the benefit of corticosteroids in the management of PML-IRIS, focusing on confirmed cases. We performed a literature review of the 46 confirmed cases of PML-IRIS cases occurring in HIV-infected patients from 1998 to September 2016 (21 unmasking and 25 paradoxical PML-IRIS). AIDS-related PML-IRIS patients were mostly men (sex ratio 4/1) with a median age of 40.5 years (range 12-66). Median CD4 T cell count before cART and at PML-IRIS onset was 45/μl (0-301) and 101/μl (20-610), respectively. After cART initiation, PML-IRIS occurred within a median timescale of 38 days (18-120). Clinical signs were motor deficits (69%), speech disorders (36%), cognitive disorders (33%), cerebellar ataxia (28%), and visual disturbances (23%). Brain MRI revealed hyperintense areas on T2-weighted sequences and FLAIR images (76%) and suggestive contrast enhancement (87%). PCR for John Cunningham virus (JCV) in cerebrospinal fluid (CSF) was positive in only 84% of cases; however, when performed, brain biopsy confirmed diagnosis of PML in 90% of cases and demonstrated histological signs of IRIS in 95% of cases. Clinical worsening related to PML-IRIS and leading to death was observed in 28% of cases. Corticosteroids were prescribed in 63% of cases and maraviroc in one case. Statistical analysis failed to demonstrate significant benefit from steroid treatment, despite spectacular improvement in certain cases. Diagnosis of PML-IRIS should be considered in HIV

A review of Ramadan fasting and regular physical activity on metabolic syndrome indices

Directory of Open Access Journals (Sweden)

Seyyed Reza Attarzadeh Hosseini

2016-03-01

Full Text Available Introduction: Metabolic syndrome constitutes a cluster of risk factors such as obesity, hyperglycemia,  hypertension, and dyslipidemia, which increase the risk of cardiovascular diseases and type II diabetes mellitus. In this review article, we aimed to discuss the possible effects of fasting and regular physical activity on risk factors for cardiovascular diseases.  Methods: Online databases including Google Scholar, SID, PubMed, and MagIran were searched, using the following keywords:  “training”, “exercise”, “physical activity”, “fasting”, “Ramadan”, “metabolic syndrome”, “fat percentage”, “blood pressure”, “blood sugar”, “cholesterol”, “triglyceride”, and “lowdensity lipoprotein-cholesterol”. All articles including research studies, review articles, descriptive and analytical studies, and ross-sectional research, published during 2006-2015, were reviewed. In case of any errors in the methodologyof articles, they were removed from our analysis. Results:Based on our literature review, inconsistent findings have been reported on risk factors formetabolic syndrome. However, the majority of conducted studies have suggested the positive effects offasting on reducing the risk factors for metabolic syndrome. Conclusion: Although fasting in different seasons of the year has no significant impacts on mental health or physical fitness, it can reduce the risk of various diseases such as cardiovascular diseases. Also, based on the conducted studies, if individuals adhere to a proper diet, avoid excessive eating, drink sufficient amounts of fluids, and keep a healthy level of physical activity, fasting can improve their physical health.

A Case of Microangiopathic Antiphospholipid-Associated Syndromes during Pregnancy: Review of the Literature

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Nobuhiro Suzumori

2012-01-01

Full Text Available Microangiopathic antiphospholipid-associated syndromes (MAPSs are reported as encompassing several conditions mainly affecting the microvasculature of selected organs: the liver in HELLP syndrome (hemolysis, elevated liver enzymes, and low platelet; kidney, brain, and skin in TTP (thrombotic thrombocytopenic purpura. It is predominant in patients with catastrophic antiphospholipid syndrome (APS. A recent report suggests that APS is not only a thrombotic disease but also associated with microangiopathic features, and it can explain the greater prevalence of HELLP syndrome in these patients. We here report a case of MAPS during pregnancy associated with systemic lupus erythematosus (SLE in early second trimester.

The reproductive potential of patients with Mayer-Rokitansky-Küster-Hauser syndrome using gestational surrogacy: a systematic review.

Science.gov (United States)

Friedler, Shevach; Grin, Leonti; Liberti, Gad; Saar-Ryss, Buzhena; Rabinson, Yaakov; Meltzer, Semion

2016-01-01

Women with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome may reproduce after uterine transplantation or IVF using a gestational surrogate. As uterine transplantation is still an experimental procedure, data on their clinical outcome using assisted reproduction techniques are imperative to allow evidence-based counselling. For this purpose, a systematic non-restricted electronic literature search was conducted. The 14 studies included in this review were published between 1988 and 2011. From a cohort of 140 patients with MRKH syndrome, mostly from the the USA and Israel, only four studies contained data on more than 10 patients; the others were case reports or small series. In the studies reviewed, 125 patients underwent 369 cycles of IVF with gestational surrogacy, and delivered 71 newborns. The reporting of outcome of patients with MRKH syndrome undergoing assisted reproduction techniques in the available literature is less than optimal and is characterized by bias of publication, inconsistent reports, including few patients, treated over a long time span, and lacking systematic reports from large IVF centres. None of the national registries contain specific outcome data on patients with MRKH syndrome. The paucity of data limits the possibility to draw firm conclusions but substantiates the need for a systematic multicentre reporting system. Copyright © 2015 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.

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

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R Soleimanirad

2013-04-01

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

Tourette's syndrome and associated disorders: a systematic review

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Bárbara R. Ferreira

2014-09-01

Full Text Available Objective: To compile data on Tourette's syndrome (TS, tics and associated disorders.Methods: A systematic review of the literature was conducted using the 5S levels of organization of healthcare research evidence (systems, summaries, synopses, syntheses, studies, based on the model described by Haynes. The search keywords were Tourette, tics and comorbidity, which were cross-referenced. Studies provided by publishers and articles being processed on July 31, 2013, were also included.Results: Of all studies retrieved during the search, 64 were selected because they analyzed the epidemiology, clinical features and etiopathogenesis of TS and its comorbidities. TS is classified as a hyperkinetic movement disorder, and at least 90% of the patients have neuropsychiatric comorbidities, of which attention deficit hyperactivity and obsessive-compulsive disorders are the most common. The syndrome is clinically heterogeneous and has been associated with a dysfunction of cortico-striatal-thalamic-cortical circuits involving various neurotransmitters. Although its genetic etiology has been widely studied, other factors may be important to understand this syndrome and its associated disorders.Conclusions: TS is a neurodevelopmental disorder that results from the impact of stress factors on a vulnerable biological substrate during the critical periods of neurodevelopment. The study of TS and its comorbidities may contribute, at different levels, to the understanding of several neuropsychiatric disorders of clinical and therapeutic relevance.

Marfan syndrome: Report of two cases with review of literature

African Journals Online (AJOL)

2011-06-10

Jun 10, 2011 ... Marfan syndrome is a variable autosomal dominant disorder with characteristic cardiovascular, eye and skeletal features. Progressive aortic ... Outward bowing of the legs was noticed along with dry scaly skin. The first toe was ...

Heart rate variability measurement and clinical depression in acute coronary syndrome patients: narrative review of recent literature

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Harris PR

2014-07-01

Full Text Available Patricia RE Harris,1 Claire E Sommargren,2 Phyllis K Stein,3 Gordon L Fung,4,5 Barbara J Drew6,7 1ECG Monitoring Research Lab, 2Department of Physiological Nursing, School of Nursing, University of California, San Francisco, CA, USA; 3Heart Rate Variability Laboratory, School of Medicine, Washington University, St Louis, MO, USA; 4Asian Heart & Vascular Center at Mount Zion, Division of Cardiology, University of California, 5Cardiology Consultation Service, Cardiac Noninvasive Laboratory, and The Enhanced External Counterpulsation Unit, Department of Medicine, University of California, San Francisco Medical Center, 6Division of Cardiology, 7Department of Physiological Nursing, School of Nursing, University of California, San Francisco, CA, USA Aim: We aimed to explore links between heart rate variability (HRV and clinical depression in patients with acute coronary syndrome (ACS, through a review of recent clinical research literature. Background: Patients with ACS are at risk for both cardiac autonomic dysfunction and clinical depression. Both conditions can negatively impact the ability to recover from an acute physiological insult, such as unstable angina or myocardial infarction, increasing the risk for adverse cardiovascular outcomes. HRV is recognized as a reflection of autonomic function. Methods: A narrative review was undertaken to evaluate state-of-the-art clinical research, using the PubMed database, January 2013. The search terms “heart rate variability” and “depression” were used in conjunction with “acute coronary syndrome”, “unstable angina”, or “myocardial infarction” to find clinical studies published within the past 10 years related to HRV and clinical depression, in patients with an ACS episode. Studies were included if HRV measurement and depression screening were undertaken during an ACS hospitalization or within 2 months of hospital discharge. Results: Nine clinical studies met the inclusion criteria. The

Hematological aspect of Rh deficiency syndrome: a case report and a review of the literature

International Nuclear Information System (INIS)

Nash, R.; Shojania, A.M.

1987-01-01

The hematological aspects of the original case of Rhmod are reported. The subject, as in other reported cases, had a chronic hemolytic anemia characterized by stomatocytosis, reduced osmotic fragility, and abnormal autohemolysis correctable with the addition of glucose. The 51 Cr red cell survival studies showed the spleen to be the preferential site of red cell destruction and splenectomy produced a dramatic improvement in red cell survival. The topic of Rh deficiency syndrome (Rhnull and Rhmod) is briefly reviewed with regard to the number of cases reported, to genetic aspects, to the hematological findings, and to the results of splenectomy

Facial hemiatrophy: Review of literature and a case report

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Manisha S Tijare

2011-01-01

Full Text Available A case report of hemifacial atrophy is presented in this paper. It is also known as Parry-Romberg syndrome, is an uncommon degenerative and poorly understood condition. It is characterized by progressive atrophy of the skin, subcutaneous tissue, muscle, cartilage or bone; the condition can leave a marked deformity on one side of the face. The incidence and the cause of this alteration is debatable. The most common complications that appear in association to this health disorder are: trigeminal neuritis, facial paresthesia, severe headache and epilepsy. Now, plastic surgery with graft of autogenous fat can be performed, after stabilization of the disease, to correct the deformity. Orthodontic treatment can help in the correction of any associated malformation. This presentation gives a review of concern literature about the etiology, physiopathology, differential diagnosis and treatment of hemifacial atrophy.

Liddle Syndrome: Review of the Literature and Description of a New Case

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Martina Tetti

2018-03-01

Full Text Available Liddle syndrome is an inherited form of low-renin hypertension, transmitted with an autosomal dominant pattern. The molecular basis of Liddle syndrome resides in germline mutations of the SCNN1A, SCNN1B and SCNN1G genes, encoding the α, β, and γ-subunits of the epithelial Na+ channel (ENaC, respectively. To date, 31 different causative mutations have been reported in 72 families from four continents. The majority of the substitutions cause an increased expression of the channel at the distal nephron apical membrane, with subsequent enhanced renal sodium reabsorption. The most common clinical presentation of the disease is early onset hypertension, hypokalemia, metabolic alkalosis, suppressed plasma renin activity and low plasma aldosterone. Consequently, treatment of Liddle syndrome is based on the administration of ENaC blockers, amiloride and triamterene. Herein, we discuss the genetic basis, clinical presentation, diagnosis and treatment of Liddle syndrome. Finally, we report a new case in an Italian family, caused by a SCNN1B p.Pro618Leu substitution.

Dysfunctional breathing: a review of the literature and proposal for classification

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Richard Boulding

2016-09-01

Full Text Available Dysfunctional breathing is a term describing breathing disorders where chronic changes in breathing pattern result in dyspnoea and other symptoms in the absence or in excess of the magnitude of physiological respiratory or cardiac disease. We reviewed the literature and propose a classification system for the common dysfunctional breathing patterns described. The literature was searched using the terms: dysfunctional breathing, hyperventilation, Nijmegen questionnaire and thoraco-abdominal asynchrony. We have summarised the presentation, assessment and treatment of dysfunctional breathing, and propose that the following system be used for classification. 1 Hyperventilation syndrome: associated with symptoms both related to respiratory alkalosis and independent of hypocapnia. 2 Periodic deep sighing: frequent sighing with an irregular breathing pattern. 3 Thoracic dominant breathing: can often manifest in somatic disease, if occurring without disease it may be considered dysfunctional and results in dyspnoea. 4 Forced abdominal expiration: these patients utilise inappropriate and excessive abdominal muscle contraction to aid expiration. 5 Thoraco-abdominal asynchrony: where there is delay between rib cage and abdominal contraction resulting in ineffective breathing mechanics. This review highlights the common abnormalities, current diagnostic methods and therapeutic implications in dysfunctional breathing. Future work should aim to further investigate the prevalence, clinical associations and treatment of these presentations.

Appendix A : literature review.

Science.gov (United States)

2013-03-01

This appendix contains a review of the literature and other background information : germane to the experimental and analytical research presented in subsequent appendices. Table : 1 lists the sections and topics contained in this appendix and those ...

Nevoid Basal-Cell Syndrome: literature review and case report in a family

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Alfio José Tincani

Full Text Available The Nevoid Basal-Cell Carcinoma Syndrome (NBCC, or as it is also referred to, basal-cell nevus syndrome or Gorlin-Goltz syndrome, is characterized by multiple early-appearing basal cell carcinomas, keratocytosis of the mandible, and anomalies of the ocular, skeletal reproductive system. We describe four patients in the same family, all of them possessing a large number of skin tumors associated with other typical clinical and X-Ray anomalies of NBCC. The definitive treatment of NBCC has yet to be established, however, early diagnosis is very important as well as the periodical follow-up examination of ten patients, mainly due to the transformations in the skin lesions that may occur.

Customer Journeys: A Systematic Literature Review

OpenAIRE

Følstad, Asbjørn; Kvale, Knut

2018-01-01

Purpose – Customer journeys has become an increasingly important topic in service management and design. The study reviews customer journey terminology and approaches within the research literature prior to 2013, mainly from the fields of design, management, and marketing. Design/methodology/approach - The study was conducted as a systematic literature review. Searches in Google Scholar, Scopus, Web of Knowledge, ACM Digital Library, and ScienceDirect identified 45 papers for analysis. The pa...

Computer-Assisted Diagnosis of the Sleep Apnea-Hypopnea Syndrome: A Review

Science.gov (United States)

Alvarez-Estevez, Diego; Moret-Bonillo, Vicente

2015-01-01

Automatic diagnosis of the Sleep Apnea-Hypopnea Syndrome (SAHS) has become an important area of research due to the growing interest in the field of sleep medicine and the costs associated with its manual diagnosis. The increment and heterogeneity of the different techniques, however, make it somewhat difficult to adequately follow the recent developments. A literature review within the area of computer-assisted diagnosis of SAHS has been performed comprising the last 15 years of research in the field. Screening approaches, methods for the detection and classification of respiratory events, comprehensive diagnostic systems, and an outline of current commercial approaches are reviewed. An overview of the different methods is presented together with validation analysis and critical discussion of the current state of the art. PMID:26266052

Computer vision syndrome: A review.

Science.gov (United States)

Gowrisankaran, Sowjanya; Sheedy, James E

2015-01-01

Computer vision syndrome (CVS) is a collection of symptoms related to prolonged work at a computer display. This article reviews the current knowledge about the symptoms, related factors and treatment modalities for CVS. Relevant literature on CVS published during the past 65 years was analyzed. Symptoms reported by computer users are classified into internal ocular symptoms (strain and ache), external ocular symptoms (dryness, irritation, burning), visual symptoms (blur, double vision) and musculoskeletal symptoms (neck and shoulder pain). The major factors associated with CVS are either environmental (improper lighting, display position and viewing distance) and/or dependent on the user's visual abilities (uncorrected refractive error, oculomotor disorders and tear film abnormalities). Although the factors associated with CVS have been identified the physiological mechanisms that underlie CVS are not completely understood. Additionally, advances in technology have led to the increased use of hand-held devices, which might impose somewhat different visual challenges compared to desktop displays. Further research is required to better understand the physiological mechanisms underlying CVS and symptoms associated with the use of hand-held and stereoscopic displays.

Sheehan’s Syndrome: A Case Report and Literature Review

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S Errarhay

2009-01-01

Full Text Available Post-partum pituitary necrosis (Sheehan’s syndrome is a rare complication of post-partumhemorrhage. The diagnosis can be erratic and often delayed. In this case report of Sheehan’ssyndrome in the post-partum period, the signs were characterized by agalactia, severe hypoglycemia,and low serum levels of thyroid hormones, cortico-adrenal hormones, and gonadotrophin (FSH, LH.The hypophyseal magnetic resonance imaging confirmed the diagnosis of hypopituitarism secondaryto pituitary necrosis.

Total body irradiation in a patient with fragile X syndrome for acute lymphoblastic leukemia in preparation for stem cell transplantation: A case report and literature review.

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Collins, D T; Mannina, E M; Mendonca, M

2015-10-01

Fragile X syndrome (FXS) is a congenital disorder caused by expansion of CGG trinucleotide repeat at the 5' end of the fragile X mental retardation gene 1 (FMR1) on the X chromosome that leads to chromosomal instability and diminished serum levels of fragile X mental retardation protein (FMRP). Afflicted individuals often have elongated features, marfanoid habitus, macroorchidism and intellectual impairment. Evolving literature suggests the condition may actually protect from malignancy while chromosomal instability would presumably elevate the risk. Increased sensitivity to ionizing radiation should also be predicted by unstable sites within the DNA. Interestingly, in this report, we detail a patient with FXS diagnosed with acute lymphoblastic leukemia treated with induction followed by subsequent cycles of hyper-CVAD (cyclophosphamide, vincristine, doxorubicin, dexamethasone) with a complete response who then was recommended to undergo peripheral stem cell transplantation. The patient underwent total body irradiation (TBI) as a component of his conditioning regimen and despite the concern of his clinicians, developed minimal acute toxicity and successful engraftment. The pertinent literature regarding irradiation of patients with FXS is also reviewed. © 2015 Wiley Periodicals, Inc.

Lynch Syndrome: An Updated Review

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Rishabh Sehgal

2014-06-01

Full Text Available Lynch syndrome is one of the most common cancer susceptibility syndromes. Individuals with Lynch syndrome have a 50%–70% lifetime risk of colorectal cancer, 40%–60% risk of endometrial cancer, and increased risks of several other malignancies. It is caused by germline mutations in the DNA mismatch repair genes MLH1, MSH2, MSH6 or PMS2. In a subset of patients, Lynch syndrome is caused by 3' end deletions of the EPCAM gene, which can lead to epigenetic silencing of the closely linked MSH2. Relying solely on age and family history based criteria inaccurately identifies eligibility for Lynch syndrome screening or testing in 25%–70% of cases. There has been a steady increase in Lynch syndrome tumor screening programs since 2000 and institutions are rapidly adopting a universal screening approach to identify the patients that would benefit from genetic counseling and germline testing. These include microsatellite instability testing and/or immunohistochemical testing to identify tumor mismatch repair deficiencies. However, universal screening is not standard across institutions. Furthermore, variation exists regarding the optimum method for tracking and disclosing results. In this review, we summarize traditional screening criteria for Lynch syndrome, and discuss universal screening methods. International guidelines are necessary to standardize Lynch syndrome high-risk clinics.

Waardenburg′s Syndrome with Leprosy

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B.S.N Reddy

1978-01-01

Full Text Available A rare association of Waardenburg′s syndrome and tuberculoid leprosy in a 13-year-old patient is described. This is an unrecorded feature in the literature. These two disorders are quite unrelated entities and their occurrence in the same patient is a casual one. All the classical features of Waardenburg′s syndrome except deafness were present and the disease manifested as an isolated case in the family. The pertinent literature is briefly reviewed.

Prenatal Diagnosis of Persistent Hyperplastic Primary Vitreous: Report of 2 Cases and Review of the Literature.

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Esmer, Aytul Corbacioglu; Sivrikoz, Tugba Sarac; Gulec, Elif Yilmaz; Sezer, Salim; Kalelioglu, Ibrahim; Has, Recep; Yuksel, Atil

2016-10-01

Persistent hyperplastic primary vitreous is a spectrum of congenital ocular abnormalities characterized by leukocoria, microphthalmia, cataracts, extensive intravitreal hemorrhage, persistence of the hyaloid artery, glaucoma, and retinal detachment. It might be isolated or associated with congenital syndromes such as trisomy 13, Walker-Warburg syndrome, and Norrie disease. We present 2 cases of persistent hyperplastic primary vitreous diagnosed by prenatal sonography in the early third trimester. Bilateral hyperechoic lenses and retinal nonattachment were detected in the sonographic examination of the first case, whereas irregular echogenic bands between the lenses and posterior walls of the eyes were prominent in the second case. In both of the cases, ocular findings were accompanied by intracranial findings, including severe hydrocephalus, an abnormal gyral pattern, and cerebellar hypoplasia, suggesting the diagnosis of Walker-Warburg syndrome. We also present a review of the literature regarding the prenatal diagnosis of this malformation.

Anaesthesia Management in a Patient with Waardenburg Syndrome and Review of the Literature

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Peker, Kevser; Ergil, Julide; Öztürk, İbrahim

2015-01-01

Waardenburg syndrome is a rare autosomal dominant disease that may cause hearing loss, pigmentary abnormalities, neurocristopathy and partial albinism. Incidence is estimated as 2%–3% among the cases of congenital deafness and 1/42,000 of the general population. Children with Waardenburg syndrome usually require anaesthesia for the cochlear implant operation in early age. The features of the syndrome that may bear importance for anaesthetic management are laryngomalacia, multiple muscle contr...

Sarcomatoid carcinoma of kidney, presenting with leucocytosis as paraneoplastic syndrome: A case report and short review

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Joydeep Ghosh

2017-01-01

Full Text Available Renal cell carcinoma is the ninth most common malignancy. The commonest histopathological type is clear cell carcinoma. The occurrence of sarcomatoid carcinoma is very rare and confers a very poor prognosis. Only 10-20% patients present with paraneoplastic syndromes. Out of the common paraneoplastic syndromes, leucocytosis is one of the least reported. Here, we present a case of sarcomatoid carcinoma of kidney who presented with low-grade fever and leucocytosis, followed by a short review of literature. This is one of the rare situations where a rare histologic variant presents with a rare finding.

Paroxysmal supraventricular tachycardia and Wolff-Parkinson-White syndrome in ankylosing spondylitis: a large cohort observation study and literature review.

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Ho, Huei-Huang; Yeh, San-Jou; Tsai, Wen-Pin; Wang, Chin-Man; Chen, Ji Yih

2012-12-01

To investigate the associations of paroxysmal supraventricular tachycardia (PSVT) and Wolff-Parkinson-White (WPW) syndrome with ankylosing spondylitis (AS). We conducted a retrospective cohort study by reviewing the medical records of 1503 consecutive AS patients diagnosed at a tertiary medical center. The clinical and electrocardiographic (ECG) characteristics of 641 AS patients having 12-lead ECG available were further analyzed in a precise manner. Among the 641 AS patients with 12-lead ECG available for detecting cardiac abnormalities, 14 were identified as having PSVT, including 3 with WPW syndrome and 1 having a WPW (ventricular preexcitation) ECG pattern. A higher proportion of AS patients presented with PSVT (21.8/1000) compared with a general population-based study (2.25/1000). Also, AS patients demonstrated a higher prevalence of WPW syndrome or WPW pattern (6.24/1000) than found in general population-based studies (0.9 to 1.5/1000). Ankylosing spondylitis patients with PSVT or WPW syndrome had significantly higher rates of peripheral arthritis (78.6%; P = 0.002), acute anterior uveitis (64.3%; P = 0.003), bamboo spine (64.3%; P = 0.001), and other cardiovascular disorders (85.7%; P syndrome. Detailed ECG and electrophysiological examinations are required for early detection of PSVT and WPW syndrome for prompt resolution of potentially life-threatening complications in all AS patients, especially those presenting with the symptoms of palpitation, dizziness, dyspnea, or syncope. Copyright © 2012 Elsevier Inc. All rights reserved.

Movement activity in children with ADHD: Literature review

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Mečířová, Martina

2013-01-01

Thema works: Movement activity in childern with ADHD: Literature review Goal: The goal was to make literature review about children with ADHD and learn how to involve these children in movement activities. Methods: Thesis was made as a theoretical study in the form of a literature review, focusing on the summary of current findings about movement activities in children with ADHD. Results: I studied scientific books, papers and articles dealing with children with ADHD and I thought about the p...

Case of Joubert syndrome. CT findings of brainstem and review of literature

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Suzuki, Hisaharu; Nakazato, Akihiko; Ikota, Hiroko; Koide, Hiroyoshi (Saitama Medical School (Japan)); Yasaka, Atsushi; Nakada, Yoshitaka

1983-01-01

Joubert et al. first reported a familial syndrome which showed episodic tachypena, abnormal eye movement, mental and motor retardation. Since then eighteen cases have been reported in the world. In this paper, we reported a male baby with Joubert syndrome who was observed since the newborn period. He showed episodic tachypnea (respiratory rate over 100/min), apnea, severe mental and motor retardation, no normal eye movements, occipital meningocele, high arched palate and poor sucking. CT scan revealed vermian agenesis, hypoplasia and deformity of brainstem, enlarged fourth ventricle and cisterna magna. EEG showed episodic discharges. Laboratory test investigations including amino acids, lactate, pyruvate, ammonia, chromosomal analysis, IVP and renogram showed no abnormal findings. He showed poor development and at eleventh month of age he died at home because of respiratory arrest. Similar syndromes were reported by Koya et al., Dekaban, Gardner et al., D'Agostino et al. and Friede. They reported syndromes consisting of abnormal respiration, abnormal eye movements, mental and motor retardation, occipital meningocele, retinal degeneration and polycystic kidney. Some causative events may have occurred at 6 to 7 weeks of gestation affecting central nervous system as well as other organs.

[Burnout in medical profession--a literature review].

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Walkiewicz, Maciej; Sowińska, Katarzyna; Tartas, Małgorzata

2014-01-01

The goal of this paper is to present the latest trends and research reports on burnout syndrome among doctors and nurses. In the first part we present the most recent research tools used in the study of burnout among medical personnel. Then we present results by three areas: demographic factors, personality and coping styles, and finally organizational aspect of the work. Based on the presented literature we attempt to determine the profile of health care worker who is at highest risk of burnout syndrome. It seems that it would be worth to take under consideration medical students who are in risk group and to offer them some special psycho educational programs since the beginning of education.

Grounded theory research: literature reviewing and reflexivity.

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McGhee, Gerry; Marland, Glenn R; Atkinson, Jacqueline

2007-11-01

This paper is a report of a discussion of the arguments surrounding the role of the initial literature review in grounded theory. Researchers new to grounded theory may find themselves confused about the literature review, something we ourselves experienced, pointing to the need for clarity about use of the literature in grounded theory to help guide others about to embark on similar research journeys. The arguments for and against the use of a substantial topic-related initial literature review in a grounded theory study are discussed, giving examples from our own studies. The use of theoretically sampled literature and the necessity for reflexivity are also discussed. Reflexivity is viewed as the explicit quest to limit researcher effects on the data by awareness of self, something seen as integral both to the process of data collection and the constant comparison method essential to grounded theory. A researcher who is close to the field may already be theoretically sensitized and familiar with the literature on the study topic. Use of literature or any other preknowledge should not prevent a grounded theory arising from the inductive-deductive interplay which is at the heart of this method. Reflexivity is needed to prevent prior knowledge distorting the researcher's perceptions of the data.

JOB SATISFACTION OF MIDWIVES: A LITERATURE REVIEW

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Daniela Nedvědová

2017-05-01

Full Text Available Aim: The aims of the literature review were to identify and analyze factors affecting job satisfaction of midwives. Design: A literature review. Methods: Included in the literature review were full texts of papers published in English language from 1990 to 2014. The search for relevant data was performed using the electronic databases CINAHL, Medline, Science Direct and Wiley Online Library. From a total of 43 studies found, 11were analyzed as quantitative studies that fulfilled the specified criteria. Results: Job satisfaction of midwives is affected by a lack of support from the management of healthcare facilities, low salary, understaffing, insufficient time for professional activities, work-family imbalance, high workload, physical demands, inadequate professional development, working environment, stress and low autonomy at work. Midwives showed signs of exhaustion, fatigue, hostility and depression, contributing to job turnover. Conclusion: The literature review presents the factors influencing job satisfaction of midwives. This is affected by many variable determinants, which create a feeling of job satisfaction of midwives, but can also lead to job dissatisfaction and, consequently, high turnover. Keywords: midwives, job satisfaction.

Performing Systematic Literature Reviews with Novices: An Iterative Approach

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Lavallée, Mathieu; Robillard, Pierre-N.; Mirsalari, Reza

2014-01-01

Reviewers performing systematic literature reviews require understanding of the review process and of the knowledge domain. This paper presents an iterative approach for conducting systematic literature reviews that addresses the problems faced by reviewers who are novices in one or both levels of understanding. This approach is derived from…

Hearing, speech, language, and vestibular disorders in the fetal alcohol syndrome: a literature review.

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Church, M W; Kaltenbach, J A

1997-05-01

Fetal alcohol syndrome (FAS) is characterized in part by mental impairment, as well as craniofacial and ocular anomalies. These conditions are traditionally associated with childhood hearing disorders, because they all have a common embryonic origin in malformations of the first and second branchial arches, and have similar critical periods of vulnerability to toxic insult. A review of human and animal research indicates that there are four types of hearing disorders associated with FAS. These are: (1) a developmental delay in auditory maturation, (2) sensorineural hearing loss, (3) intermittent conductive hearing loss due to recurrent serous otitis media, and (4) central hearing loss. The auditory and vestibular systems share the same peripheral apparatuses (the inner ear and eighth cranial nerve) and are embryologically and structurally similar. Consequently, vestibular disorders in FAS children might be expected. The evidence for vestibular dysfunction in FAS is ambiguous, however. Like other syndromes associated with craniofacial anomalies, hearing disorders, and mental impairment, FAS is also characterized by a high prevalence of speech and language pathology. Hearing disorders are a form of sensory deprivation. If present during early childhood, they can result in permanent hearing, language, and mental impairment. Early identification and intervention to treat hearing, language, and speech disorders could therefore result in improved outcome for the FAS child. Specific recommendations are made for intervention and future research.

Silent Sinus Syndrome: A Retrospective Review of 11 Cases

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Karima DARGHAL

2014-06-01

Full Text Available Objective: The purpose of this study is to describe the clinical and radiological features of SSS, and to review therapeutic possibilities and their outcomes.Patients and Methods: Retrospective observational case series in the department of Arthur Vernes Institute between Mars 2007 and  Novembre 2012. Clinical records, including ophthalmology and otolaryngology evaluations as well as computed tomography scans and operative reports, were carefully examined. A literature review for relevant studies was performed to examine similar cases.Results: Eleven cases of  SSS were identified. Nine men and two women (sex ratio 4.5, aged between 23 and 54 years (mean, 30 years. there was 3 to 4 mm enophthalmos in 10 cases (90.9%, and hypoglobus in all cases, with no effect on visual function. In all 11 cases, the maxillary roof (orbital floor was drawn downwards, and the one or more walls of the maxilla were concave. In 4 cases septal deviation was present. 8 patients (72.7% underwent endoscopic sinus surgery, while 3 refused it. Septoplasty was performed in 4 cases (36.3%.Conclusion: The silent sinus syndrome is a rare entity. It mainly presents as unilateral enophthalmos in younger people and has very characteristic clinical and radiologic signs.This case series reports our diagnostic and therapeutic experience with this syndrome.

Teaching the Literature Review: A Practical Approach for College Instructors

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Jonathan Cisco

2014-09-01

Full Text Available Instructors across the disciplines require their students to write literature reviews. Although numerous sources describe the literature review process, instructors and students face difficulty when approaching the structure of a literature review. This paper presents a straightforward, efficient approach for teaching students how to write a literature review. Developed over the course of three years at a university writing center, this lesson received substantial support from students across the disciplines. This paper reflects on one group of students’ experiences while writing literature reviews in a political science course, showing that students demonstrated a sense of confidence and direction after the lesson. University professors, writing center staff, and content-discipline instructors in higher education classrooms can alleviate their students’ anxiety about literature reviews by using this lesson in their classrooms.

Treatment management during the adolescent transition period of girls and young women with Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS: a systematic literature review

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Anke Wagner

2016-11-01

Full Text Available Abstract Introduction In health services research, there is a special emphasis on the transition from adolescence into adulthood. During this transition period, adolescents change from pediatric to adult medical care. This process must be carefully structured, particularly when special medical care is required. Challenges and difficulties become apparent particularly in the case of rare diseases. This is increasingly so when the rare disease affects the adolescence-specific development of patients, such as Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS, also known as Müllerian agenesis. Methods A systematic literature review identified the care requirements of girls and young women with MRKHS, as well as studies of medical care during the adolescent transition period for various other diseases. This investigation was carried out in the years 2012 and 2013, and was updated in 2014/2015. In addition, the reference lists of the identified studies were reviewed. Results Nine publications on MRKHS and ten publications on the transition from adolescence to adulthood were included. Medical care requirements and measures were identified for the following areas: diagnosis during adolescence and organization of medical care, reactions to the diagnosis, functional infertility, psychological stress and threat to self-image, contact with others, and dealing with MRKHS coping strategies. Discussion There is still a great demand for research in the area of care during the transition period from adolescence into adulthood, particularly for rare diseases. The recommendations for treating MRKHS patients derived from the literature should be implemented and evaluated with regard to their effectiveness.

Two new Rett syndrome families and review of the literature

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Ravn, Kirstine; Roende, Gitte; Duno, Morten

2011-01-01

Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder, which is usually caused by de novo mutations in the MECP2 gene. More than 70% of the disease causing MECP2 mutations are eight recurrent C to T transitions, which almost exclusively arise on the paternally derived X chromosome...

Prevalence of metabolic syndrome in Bangladesh: a systematic review and meta-analysis of the studies.

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Chowdhury, Mohammad Ziaul Islam; Anik, Ataul Mustufa; Farhana, Zaki; Bristi, Piali Dey; Abu Al Mamun, B M; Uddin, Mohammad Jasim; Fatema, Jain; Akter, Tanjila; Tani, Tania Akhter; Rahman, Meshbahur; Turin, Tanvir C

2018-03-02

Metabolic syndrome (MS) is a cluster of health problems that set the stage for serious health conditions and places individuals at higher risk of cardiovascular disease, diabetes and stroke. The worldwide prevalence of MS in the adult population is on the rise and Bangladesh is no exception. According to some epidemiological study, MS is highly prevalent in Bangladesh and has increased dramatically in last few decades. To provide a clear picture of the current situation, we conducted a systematic review and meta-analysis with an objective to assess the prevalence of metabolic syndrome among the Bangladeshi population using data already published in the scientific literature. We searched MEDLINE, EMBASE and PubMed and manually checked references of all identified relevant publications that described the prevalence of MS in Bangladesh. Random effects meta-analysis was used to pool the prevalence. Heterogeneity was explored using formal tests and subgroup analyses. Study quality and publication bias was also explored. Electronic and grey literature search retrieved 491 potentially relevant papers. After removing duplicates, reviewing titles and abstracts and screening full texts, 10 studies were finally selected. Most of the studies were conducted in rural populations and study participants were mostly females. The weighted pooled prevalence of metabolic syndrome regardless of gender and criteria used to define metabolic syndrome, was 30.0% with high heterogeneity observed. Weighted pooled prevalence of metabolic syndrome is higher in females (32%) compared to males (25%) though not statistically significant (p = 0.434). Prevalence was highest (37%) when Modified NCEP ATP III criteria was used to define MS, while it was lowest (20%) when WHO criteria was used. In most cases, geographical area (urban/rural) was identified as a source of heterogeneity between the studies. Most of the studies met study quality assessment criteria's except adequate sample size

The joy at birth: an interpretive hermeneutic literature review.

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Crowther, Susan; Smythe, Elizabeth; Spence, Deb

2014-04-01

this literature review examines the experience of joy at birth and what that joy means. The premise is that the whole of the birthing experience has not been fully explicated in the literature and that something of significance remains unexplored and unspoken. It is argued that a hermeneutic phenomenological approach to reviewing literature provides unique insights and leads to deeper understandings about birth and the experience of joy that attunes at that moment. the philosophical underpinnings informed by Heidegger and Gadamer are central to this review and therefore the process of reviewing literature hermeneutically is described. Heideggerian phenomenology is used as the method to ask the questions of the literature in order that concealed and hidden experiences of joy at birth are made visible where they are gleaned from the literature. A hermeneutic lens is used to uncover relationships within the phenomenon of joy at birth and meaning. although a vast birth literature was reviewed joy at birth was often ignored, hidden or covered over. Reviewing the literature on relationships, professional presence, place of birth, birth satisfaction studies and birth as peak and spiritual experience provides glimpses of the phenomenon 'joy at birth'. it is argued that joy at birth remains largely neglected as a phenomenon worthy of consideration. Plausible interpretations are presented that suggest that joy at birth points to something significant and meaningful. Spiritual and sacred meaning is alluded to in the papers reviewed yet the majority of papers that investigate birth leave this meaning unspoken. The review highlights a need for further thinking and questioning about birth that would direct on-going investigation. Copyright © 2014 Elsevier Ltd. All rights reserved.

Plasmapheresis for Preventing Complication of Hypertriglyceridemia: A Case Report and Review of Literature.

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Costantini, Nicoletta; Mameli, Antonella; Marongiu, Francesco

2016-01-01

Severe hypertriglyceridemia is a common indication for the need of plasma exchange in treatment of hypertriglyceridemic-induced pancreatitis when normal therapies fail to garner a response. Application of plasmapheresis to prevent complication of hypertriglyceridemia is limited because of its cost and availability. We present a case of a 44-year-old man with metabolic syndrome and a medical history of secondary polycythemia in obesity hypoventilation syndrome, whose laboratory tests revealed a triglycerides value of 3965 mg/dL. To prevent the complication of pancreatitis due to hypertriglyceridemia, we performed plasma exchange 3 times when conventional treatments did not sufficiently reduce the high level of triglycerides. A review of the current available literature was therefore conducted to provide an overview of the present data on apheretic treatment for patients with severe hypertriglyceridemia. Several case reports and case series have used plasmapheresis in acute treatment of hypertriglyceridemia pancreatitis related. In our case, the choice of plasmapheresis was applied in prevention of possible complications of hypertriglyceridemia.

A case report and brief literature review of Klippel-Trénaunay syndrome

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Choudhary MG

2012-05-01

Full Text Available Madan Gopal Choudhary, Zia Ul Haq, Ram Narayan Sehra, Chandra Kumar ChaharDepartment of Paediatrics, Sardar Patel Medical College and P.B.M Hospital, Rajasthan, IndiaAbstract: Klippel-Trénaunay syndrome is a rare disorder characterized by the triad of vascular malformations, venous varicosities, and bone and soft-tissue hypertrophy. We present a case of Klippel-Trénaunay syndrome with limb hypertrophy, port-wine stains, angiokeratoma, and venous varicosities in the limbs.Keywords: Klippel-Trénaunay syndrome, sporadic, venous varicosities, port-wine stain, angiokeratoma

AN UPDATE ON BURNING MOUTH SYNDROME (A SELECTIVE REVIEW OF THE LITERATURE

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Febrina Rahmayanti

2006-04-01

Full Text Available Burning mouth syndrome (BMS is one of the orofacial pain problems. BMS has been fefined as burning pain in the tongue or oral mucous membranes, usually without accompanying clinical and laboratory findings. BMS affecting mostly women, is a constant and aggravating source of discomfort for more than 1 million adults in the world. This paper provides updated information on burning mouth syndrome and current etiopathogenesis and treatment options are discussed.

Sleep overlap syndrome

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Fariba Rezaeetalab

2016-12-01

Full Text Available Overlap syndrome, which is known as the coexistence of chronic obstructive pulmonary disease (COPD and obstructive sleep apnea (OSA, was first defined by Flenley. Although it can refer to concomitant occurrence of any of the pulmonary diseases and OSA, overlap syndrome is commonly considered as the coexistence of OSA and COPD. This disease has unique adverse health consequences distinct from either condition alone. Given the high prevalence of each solitary disease, overlap syndrome is also likely to be common and clinically relevant. Despite the fact that overlap syndrome has been described in the literature for nearly 30 years, paucity of evaluations and studies limited the discussion on diagnosis, prevalence, pathophysiology, treatment, and outcomes of this disease. This review article addresses these issues by reviewing several recent studies conducted in Iran or other countries. This review suggests that overlap syndrome has worse outcomes than either disease alone. Our findings accentuated the urgent need for further studies on overlap syndrome and all overlaps between OSA and chronic pulmonary disease to provide a deeper insight into diagnosis and non-invasive treatments of this disease.

Literature review som biblioteksservice i tværfaglig forskning

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Jensen, Lars Jakob

2016-01-01

This master thesis analyses the difficulties involved in conducting a literature review in an interdisciplinary framework and the limits of the contributions from research librarians to literature reviews. The concept of interdisciplinarity is nuanced by employing Klein’s definitions multidiscipl......This master thesis analyses the difficulties involved in conducting a literature review in an interdisciplinary framework and the limits of the contributions from research librarians to literature reviews. The concept of interdisciplinarity is nuanced by employing Klein’s definitions...... multidisciplinarity, transdisciplinarity and interdisciplinarity. The processes involved in both traditional and systematic reviews are explained and analyzed in the context of interdisciplinarity. Hjørland’s Domain Analysis is used to challenge interdisciplinarity as well as to extend the limits of librarians...

Catastrophic antiphospholipid syndrome. Case report and literature review

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del Carpio-Orantes, Luis; Martínez-Anaya, Chantall Citlally; Bonilla-Casas, Elías

2017-01-01

The present document is the report of a case of a very rare clinical entity, which presents with acute multiorganic failure after a thrombotic storm related to antiphospholipid antibodies, the so-called catastrophic antiphospholipid syndrome, which began as a recurrent picture of mesenteric thrombosis, with a previous history of venous insufficiency and distal ulcers probably associated with an unidentified antiphospholipid; deserving management in intensive care and the consultation by the world expert, Dr. Ricard Cervera who confirmed the diagnosis and recommend treating as such entity, the patient's evolution was satisfactory so far. Final recommendations for diagnosis and current treatment options such as rituximab or eculizumab are made. The present case was added to the international registry that currently houses around 500 cases worldwide (International CAPS Registry). Copyright: © 2017 SecretarÍa de Salud

Cognitive evoked potentials in obstructive sleep apnea syndrome: a review of the literature.

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Raggi, Alberto; Ferri, Raffaele

2012-02-28

Cognitive functions may be altered in patients with obstructive sleep apnea syndrome (OSAS) and it has been proposed that vigilance and attention changes play a fundamental role in all aspects of cognitive deficits noted in this disease. The use of event-related potentials (ERPs) is a high-time resolution technique that can be used to explore the presence of cognitive dysfunction. We review 23 empirical articles on ERPs in OSAS in order to contribute to the clarification of the pattern of cognitive deficits that are specific to this disease and to see whether there might be an improvement of abnormal psychophysiological findings with continuous positive airway pressure (CPAP) treatment. We conclude that ERP studies have contributed to demonstrating changes in cognitive attentive processing in OSAS, mainly in association with altered functioning of the prefrontal cortex, and that CPAP treatment may improve vigilance and attention and generally improve cerebral information processing in these patients. The remaining deficits during sufficient CPAP therapy may, however, reflect irreversible hypoxic cerebral damage.

Ortner's syndrome: a case report and literature review

International Nuclear Information System (INIS)

Dutra, Bruno Landim; Campos, Lenilton da Costa; Marques, Helder de Castro; Vilela, Vagner Moyses; Duque, Andre Geraldo da Silva

2015-01-01

The authors report the case of a 55-year-old female, hypertensive, smoker patient presenting with dysphonia, dysphagia and persistent dry cough. Laryngoscopy diagnosed left vocal cord paralysis. Computed tomography demonstrated saccular aneurysm of the inferior wall of the aortic arch, stretching the left recurrent laryngeal nerve, a finding compatible with Ortner's syndrome. (author)

Ortner's syndrome: a case report and literature review

Energy Technology Data Exchange (ETDEWEB)

Dutra, Bruno Landim; Campos, Lenilton da Costa; Marques, Helder de Castro; Vilela, Vagner Moyses, E-mail: brunolandim@yahoo.com.br [Universidade Federal de Juiz de Fora (HU/UFJF), MG (Brazil). Hospital Universitario. Unidade de Radiologia e Diagnostico por Imagem; Carvalho, Rodolfo Elias Diniz da Silva [Centro de Diagnostico Medico (CRM), Sao Mateus, ES (Brazil); Duque, Andre Geraldo da Silva [Axial Medicina Diagnostica, Belo Horizonte, MG (Brazil)

2015-07-15

The authors report the case of a 55-year-old female, hypertensive, smoker patient presenting with dysphonia, dysphagia and persistent dry cough. Laryngoscopy diagnosed left vocal cord paralysis. Computed tomography demonstrated saccular aneurysm of the inferior wall of the aortic arch, stretching the left recurrent laryngeal nerve, a finding compatible with Ortner's syndrome. (author)

Gorlin-Goltz syndrome in twin brothers: an unusual occurrence with review of the literature.

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Anchlia, Sonal; Vyas, Siddharth; Bahl, Sumit; Nagavadiya, Vipul

2015-08-21

Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome, is caused by genetic alteration produced by a mutation in the 'patched' tumour suppressor gene, and is inherited in a dominant autosomal way. Although sporadic cases have been found, this syndrome has rarely been reported in twin patients. The syndrome is characterised by a wide range of developmental abnormalities and has a predisposition to neoplasms such as multiple pigmented basal cell carcinomas and keratocysts in jaws; it also has other features such as palmar and/or plantar pits and calcification of falx cerebri. Owing to the critical oral and maxillofacial manifestations of this syndrome, it is important to recognise its characteristics in order to make a diagnosis, and to plot early preventive treatment and establish the right genetic evidence. Based on a combination of imaging, clinical and histopathological findings, we present a diagnosed case of Gorlin-Goltz syndrome in 18-year-old twin brothers. All cystic lesions were enucleated and 1 year follow-up showed no recurrence. 2015 BMJ Publishing Group Ltd.

Medical laboratory technician professional pathologies: a 2006-2016 literature review.

Science.gov (United States)

Pougnet, Richard; Loddé, Brice; Uguen, Marie; Sawicki, Bénédicte; Pougnet, Laurence

2017-12-01

The trade of laboratory technician (TL) exposes to many risks to health, because of biological or chemical or physical exposures. But the TL occupation is constantly evolving, the techniques are constantly changing. The purpose of this article is to take stock of the occupational TL pathologies which were recently described in the literature. This is a literature review, based on Medline® and Scopus® medical databases, on publications between 01/01/2006 and 31/12/2016. The research was conducted in French and English. Only articles about TL in Hospital or Teaching Hospital were selected. Twenty-eight articles were studied. The main infectious pathology described was brucellosis and a case of meningitis was studied. The cutaneous allergies reported concerned sensitization to certain solvents. There was no allergy to latex. Musculoskeletal disorders (MSD) were studied in 4 articles. The main MSDs were low back pain and neck pain. Several articles have alerted on the occurrence of burnout syndrome (BO). However, no prevalence studies were conducted over the period studied. In conclusion, TL can present many occupational pathologies. Few articles studied the prevalence of MSD and BO.

Shah-Waardenburg syndrome.

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Mahmoudi, Abdelhalim; Rami, Mohamed; Khattala, Khalid; Elmadi, Aziz; Afifi, My Abderrahmane; Youssef, Bouabdallah

2013-01-01

Shah-Waardenburg syndrome (SWS) is a neurocristopathy and is characterized by Hirschsprung's disease (HD), deafness, and depigmentation of hairs, skin, and iris. Is a very rare congenital disorder with variable clinical expression. This report describes a 4-day-old male newborn with Waardenburg's syndrome associated with aganglionosis of the colon and terminal ileum, and review the relevant literature for draws attention to the causal relationship between these two entities.

Lysimeter literature review

International Nuclear Information System (INIS)

Rogers, R.D.; McConnell, J.W. Jr.

1993-08-01

Many reports have been published concerning the use of lysimeters to obtain data on the performance of buried radioactive waste. This document presents a review of some of those reports. This review includes lysimeter studies using radioactive waste forms at Savannah River Site, Hanford Site, Argonne National Laboratory, and Oak Ridge National Laboratory; radionuclide tracer studies at Whiteshell Nuclear Research Establishment and Los Alamos National Laboratory; and water movement studies at the Nuclear Regulatory Commission's Beltsville, Maryland site, at the Hanford Site, and at New Mexico State University. The tests, results, and conclusions of each report are summarized, and conclusions concerning lysimeter technology are presented from an overall analysis of the literature. 38 refs., 44 figs., 9 tabs

Barriers to delirium assessment in the intensive care unit: A literature review.

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Rowley-Conwy, Gabby

2018-02-01

Delirium is a common syndrome that has both short and long-term negative outcomes for critically ill patients. Many studies over several years have found a knowledge gap and lack of evidence-based practice from critical care personnel, but there has been little exploration of the reasons for this. To identify the perceived barriers to delirium assessment and management among critical care nurses. A literature review of published studies to examine barriers to effective delirium assessment using a comprehensive search strategy. Five relevant studies identified for review. Few studies have investigated barriers to delirium assessment and management, but several themes reoccur throughout the literature. The perceived time consuming nature of the assessment tools is cited by many, as is the lack of medical prioritisation of results. Lack of education on delirium appears to be a significant factor and reinforces some of the stated misconceptions. Many barriers exist to prevent effective assessment and management of delirium, but several of these are due to a lack of understanding or unfamiliarity with the condition and the assessment tools as well as lack of medical prioritisation of the results. Further research is needed on this topic. Copyright © 2017 Elsevier Ltd. All rights reserved.

Teaching the Literature Review: A Practical Approach for College Instructors

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Cisco, Jonathan

2014-01-01

Instructors across the disciplines require their students to write literature reviews. Although numerous sources describe the literature review process, instructors and students face difficulty when approaching the structure of a literature review. This paper presents a straightforward, efficient approach for teaching students how to write a…

Abdominal vascular syndromes: characteristic imaging findings

International Nuclear Information System (INIS)

Cardarelli-Leite, Leandro; Velloni, Fernanda Garozzo; Salvadori, Priscila Silveira; Lemos, Marcelo Delboni; D'Ippolito, Giuseppe

2016-01-01

Abdominal vascular syndromes are rare diseases. Although such syndromes vary widely in terms of symptoms and etiologies, certain imaging findings are characteristic. Depending on their etiology, they can be categorized as congenital - including blue rubber bleb nevus syndrome, Klippel-Trenaunay syndrome, and hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome) - compressive - including 'nutcracker' syndrome, median arcuate ligament syndrome, Cockett syndrome (also known as May-Thurner syndrome), and superior mesenteric artery syndrome. In this article, we aimed to illustrate imaging findings that are characteristic of these syndromes, through studies conducted at our institution, as well as to perform a brief review of the literature on this topic. (author)

Abdominal vascular syndromes: characteristic imaging findings

Energy Technology Data Exchange (ETDEWEB)

Cardarelli-Leite, Leandro; Velloni, Fernanda Garozzo; Salvadori, Priscila Silveira; Lemos, Marcelo Delboni; D' Ippolito, Giuseppe, E-mail: leandrocleite@gmail.com [Universidade Federal de Sao Paulo (EPM/UNIFESP), Sao Paulo, SP (Brazil). Escola Paulista de Mediciana. Departmento de Diagnostico por Imagem

2016-07-15

Abdominal vascular syndromes are rare diseases. Although such syndromes vary widely in terms of symptoms and etiologies, certain imaging findings are characteristic. Depending on their etiology, they can be categorized as congenital - including blue rubber bleb nevus syndrome, Klippel-Trenaunay syndrome, and hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome) - compressive - including 'nutcracker' syndrome, median arcuate ligament syndrome, Cockett syndrome (also known as May-Thurner syndrome), and superior mesenteric artery syndrome. In this article, we aimed to illustrate imaging findings that are characteristic of these syndromes, through studies conducted at our institution, as well as to perform a brief review of the literature on this topic. (author)

Hereditary Colorectal Tumors: A Literature Review on MUTYH-Associated Polyposis

Directory of Open Access Journals (Sweden)

Micaella Kantor

2017-01-01

Full Text Available MAP (MUTYH-associated polyposis is a syndrome, described in 2002, which is associated with colorectal adenomas, with enhanced colorectal carcinogenesis. This review synthesizes the available literature on MAP and outlines its pathogenesis, association with colorectal tumorigenesis, screening, treatment, and the subtle differences between it and its close cousins—FAP and AFAP. The preponderance of data is collected using MAP guidelines. However, although AFAP and MAP appear similar, potentially important distinctions exist, warranting targeted diagnostic criteria and treatment approaches. We suggest that it may be prudent to screen for MAP earlier than in current clinical practice, as it has been shown that sequence variants are associated with more severe disease, presenting with an earlier onset of colorectal cancer. Finally, we issue a call-to-action for much-needed further data to establish clear clinical and diagnostic criteria.

Paclitaxel Induced MDS and AML: A Case Report and Literature Review

Directory of Open Access Journals (Sweden)

Udit Bhaskar Bhatnagar

2016-01-01

Full Text Available Therapy related acute myelogenous leukemia (AML and myelodysplastic syndromes (MDS have been classically linked to alkylating agents and topoisomerase inhibitors. They constitute about 1% of all AMLs. There is less evidence on association of taxanes (paclitaxel and docetaxel with these myeloid neoplasms. We present a case of paclitaxel therapy related acute myelogenous leukemia after treatment of endometrial cancer with a regimen containing paclitaxel and carboplatin. A 63-year-old female underwent surgery followed by a total of 6 cycles of chemotherapy with carboplatin and paclitaxel. Six months after last cycle of chemotherapy, she was diagnosed with myelodysplastic syndrome with refractory anemia and excess blasts. Six weeks later, she had worsening anemia and thrombocytopenia which prompted a bone marrow biopsy which revealed acute myelomonocytic leukemia. A thorough literature review revealed 12 other case reports where taxanes have been implicated in the development of therapy related myeloid neoplasm. Based on the timeline of events in our patient, paclitaxel is the likely culprit in the pathogenesis of this myeloid neoplasm. This rare but significantly grave adverse effect should be kept in consideration when deciding on treatment options for gynecological malignancies.

Suggested Guidelines for Conducting Music Therapy Literature Reviews & an Introduction to Systematic Reviews in Music Therapy

DEFF Research Database (Denmark)

O'Callaghan, Clare; Bonde, Lars Ole; Rickson, Daphne

2014-01-01

This paper describes the kinds of literature reviews found in music therapy writings and offers ideas for authors preparing literature reviews related to their clinical practice and research. It includes a description of systematic review and lists samples of literature reviews and systematic...

The Complex Interaction Between Polycystic Ovary Syndrome and Hereditary Angioedema: Case Reports and Review of the Literature.

Science.gov (United States)

Iahn-Aun, Marina; Aun, Marcelo Vivolo; Motta, Antonio Abílio; Kalil, Jorge; Giavina-Bianchi, Pedro; Hayashida, Sylvia Asaka; Baracat, Edmund Chada; Maciel, Gustavo Arantes

2017-07-01

Hereditary angioedema (HAE) is a rare but severe disease, with high risk of death, and attacks have been associated to high estrogen levels. Polycystic ovary syndrome (PCOS) is a common hyperandrogenic condition, which is frequently treated with combined oral contraceptives. The aim of this study was to describe 2 clinical cases of young women diagnosed as having PCOS who developed HAE attacks after the introduction of combined estrogen-progestin pills to treat PCOS symptoms. Literature review of sex hormones' role in genesis of HAE attacks and possible mechanisms involved. In the cases reported, after initiation of combined contraceptives, patients presented with facial swelling with airway involvement (laryngeal edema) and abdominal pain. They had a familial history of angioedema and normal C1 inhibitor (C1-INH) levels, leading to the diagnosis of HAE with normal C1-INH (HAEnC1-INH) or HAE type III. After suspension of exogenous estrogen, patients remained asymptomatic from HAE. HAEnC1-INH is an estrogen-dependent form of HAE. It is well established that exogenous estrogen triggers attacks of all types of HAE. However, this is the first description of the association between PCOS and HAE, in which PCOS could be masking HAE symptoms. We propose that PCOS might have a protective role regarding HAE attacks, because of its particular hormonal features, that is, hyperandrogenism and relative stable levels of estradiol. The use of combined estrogen-progestin compounds in women with PCOS and HAE must be avoided, and treatment must be individualized.

Familial Cortical Myoclonic Tremor with Epilepsy and Cerebellar Changes: Description of a New Pathology Case and Review of the Literature

Directory of Open Access Journals (Sweden)

Sarvi Sharifi

2012-08-01

Full Text Available Background: Over 60 Asian and European families with cortical myoclonic tremor and epilepsy have been reported under various names. Cerebellar changes may be part of the syndrome. In this study, we report the neuropathology findings in a new Dutch familial cortical myoclonic tremor with epilepsy case and review the literature on this syndrome.Methods: Neuropathological investigations were performed for a third case of the Dutch pedigree. In addition, we searched the literature for pedigrees meeting the criteria for benign familial myoclonic tremor and epilepsy.Results: Our third Dutch case showed cerebellar Purkinje cell changes and a normal cerebral cortex. The pedigrees described show phenotypical differences, cerebellar symptoms and cerebellar atrophy to a variable degree. Japanese pedigrees with linkage to chromosome 8q have been reported with milder disease features than members of Italian pedigrees with linkage to chromosome 2p. French pedigrees (5p possibly show even more severe and progressive disease, including cognitive changes and cerebellar features.Discussion: Currently, familial cortical myoclonic tremor is not listed by the International League Against Epilepsy, although it can be differentiated from other epileptic syndromes. Genetic heterogeneity and phenotypical differences between pedigrees exist. Cerebellar changes seem to be part of the syndrome in at least a number of pedigrees.

Patellofemoral pain syndrome in female athletes: A review of diagnoses, etiology and treatment options.

Science.gov (United States)

Vora, Molly; Curry, Emily; Chipman, Amanda; Matzkin, Elizabeth; Li, Xinning

2017-12-14

Patellofemoral pain syndrome (PFPS) is one of the most common causes of knee pain and is present in females disproportionately more relative to males. PFPS causes tend to be multifactorial in nature and are described in this review. From a review of the current literature, it is clear that there needs to be further research on PFPS in order to better understand the complex etiology of this disorder in both males and females. It is known that females with patellofemoral pain syndrome demonstrate a decrease in abduction, external rotation and extension strength of the affected side compared with healthy patients. Conservative management, including optimizing muscle balance between the vastus medialis and lateralis around the patella along with formal therapy should be the first line of treatment in patients presenting with PFPS. Surgery should be reserved for patients in which all conservative management options have failed. This review aims to guide physicians in accurate clinicaldecision making regarding conservative and surgical treatment options when specifically faced with PFPS in a female athlete. Furthermore, we will discuss the anatomic variants, incidence and prevalence, etiology, diagnosis and treatment of PFPS.

Patellofemoral pain syndrome in female athletes: A review of diagnoses, etiology and treatment options

Science.gov (United States)

Vora, Molly; Curry, Emily; Chipman, Amanda; Matzkin, Elizabeth; Li, Xinning

2018-01-01

Patellofemoral pain syndrome (PFPS) is one of the most common causes of knee pain and is present in females disproportionately more relative to males. PFPS causes tend to be multifactorial in nature and are described in this review. From a review of the current literature, it is clear that there needs to be further research on PFPS in order to better understand the complex etiology of this disorder in both males and females. It is known that females with patellofemoral pain syndrome demonstrate a decrease in abduction, external rotation and extension strength of the affected side compared with healthy patients. Conservative management, including optimizing muscle balance between the vastus medialis and lateralis around the patella along with formal therapy should be the first line of treatment in patients presenting with PFPS. Surgery should be reserved for patients in which all conservative management options have failed. This review aims to guide physicians in accurate clinicaldecision making regarding conservative and surgical treatment options when specifically faced with PFPS in a female athlete. Furthermore, we will discuss the anatomic variants, incidence and prevalence, etiology, diagnosis and treatment of PFPS. PMID:29564075