The impact on condom use of the "100% Jeune" social marketing program in Cameroon.

PubMed

Meekers, Dominique; Agha, Sohail; Klein, Megan

2005-06-01

To measure the reach of the "100% Jeune" social marketing campaign and to assess its impact on condom use and on the predictors of condom use. The campaign aims to improve condom use through intensive youth-oriented mass media and interpersonal communications and widespread distribution of subsidized condoms. We analyzed data from the 2000 and 2002 waves of a reproductive health survey of youth aged 15-24 years, with sample sizes of 2097 and 3536, respectively. Exposure to campaign activities was high. During the course of the intervention, there were significant changes in perceived condom attributes and access, self-efficacy, and perceived social support. Consistent with these changes, the percentage of youth who used a condom in last sex with their regular partner increased from 32% to 45% for females (p < .05) and from 44% to 61% for males (p < .01). Additional analyses suggest that exposure to the "100% Jeune" campaign has contributed to these trends. The multi-faceted mass media and interpersonal communication campaign was effective for reaching youth. During the first 18 months of the campaign, significant changes occurred in perceived social support and condom use self-efficacy. Significant increases in levels of condom use also were achieved. However, the program was more effective among males than females. This indicates a need for more and possibly different campaign activities to focus specifically on risk perception and self-efficacy among females. The results also show that repeated program exposure is needed to achieve behavior change. Hence, future programs can enhance their effectiveness by using a mix of mass media and interpersonal communications to repeatedly expose youth to key campaign messages.

Visuo-spatial knowledge acquisition in individuals with Down syndrome: The role of descriptions and sketch maps.

PubMed

Meneghetti, Chiara; Lanfranchi, Silvia; Carretti, Barbara; Toffalini, Enrico

2017-04-01

Few studies on individuals with Down syndrome (DS) have explored how they learn space. The present study examines space learning from verbal descriptions in individuals with DS, and explores the role of external cues (such as a sketch map). Twenty-eight individuals with DS and 28 matched typically-developing (TD) children listened to route or survey descriptions with or without seeing a corresponding sketch map (Description+Sketch Map [D+SM] and Description alone [D], respectively). After hearing each description, they performed tasks that involved recognizing, arranging sequentially, and locating landmarks. The results showed that individuals with DS performed less well in recognizing landmarks and arranging them sequentially. The D+SM condition produced general benefits in both groups' accuracy, though the improvement in locating landmarks was greater in the TD than in the DS group. In both groups, the D+SM condition prompted a better performance than the D condition when participants arranged landmarks sequentially after hearing a description from a route perspective, but not from a survey perspective. Overall, our results show that individuals with DS benefited when a spatial description was associated with a corresponding sketch map, albeit to a lesser degree than TD children. The findings are discussed in the light of the literature on DS and on spatial cognition in the TD domain. Copyright © 2017 Elsevier Ltd. All rights reserved.

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.

PubMed

Schmidts, Miriam; Hou, Yuqing; Cortés, Claudio R; Mans, Dorus A; Huber, Celine; Boldt, Karsten; Patel, Mitali; van Reeuwijk, Jeroen; Plaza, Jean-Marc; van Beersum, Sylvia E C; Yap, Zhi Min; Letteboer, Stef J F; Taylor, S Paige; Herridge, Warren; Johnson, Colin A; Scambler, Peter J; Ueffing, Marius; Kayserili, Hulya; Krakow, Deborah; King, Stephen M; Beales, Philip L; Al-Gazali, Lihadh; Wicking, Carol; Cormier-Daire, Valerie; Roepman, Ronald; Mitchison, Hannah M; Witman, George B

2015-06-05

The analysis of individuals with ciliary chondrodysplasias can shed light on sensitive mechanisms controlling ciliogenesis and cell signalling that are essential to embryonic development and survival. Here we identify TCTEX1D2 mutations causing Jeune asphyxiating thoracic dystrophy with partially penetrant inheritance. Loss of TCTEX1D2 impairs retrograde intraflagellar transport (IFT) in humans and the protist Chlamydomonas, accompanied by destabilization of the retrograde IFT dynein motor. We thus define TCTEX1D2 as an integral component of the evolutionarily conserved retrograde IFT machinery. In complex with several IFT dynein light chains, it is required for correct vertebrate skeletal formation but may be functionally redundant under certain conditions.

[Pigmentosum retinis and tubulo-interstitial nephronophtisis in Sensenbrenner syndrome: a case report].

PubMed

Costet, C; Betis, F; Bérard, E; Tsimaratos, M; Sigaudy, S; Antignac, C; Gastaud, P

2000-02-01

Sensenbrenner syndrome or cranio-ectodermal dysplasia is an extremely rare autosomal recessive condition (12 cases reported in literature). Our observation shows the possibility of both ocular and renal involvement associated with cranio-ectodermal abnormalities. and method:We report the case of a girl who presented a typical cranio-ectodermal syndrome with dolicocephaly, short thorax, short limbs, short fingers and teeth abnormalities. At five years, she was found to have pigmentosum retinitis with amblyopy and moderate hyperopia. A chronic renal failure with uncontrollable hypertension underwent a cadaveric-donor transplantation at the age of six years. Two years later, the pigmentosum retinitis was stable. The kidney histology revealed a tubulo-interstitial nephronophtisis. The molecular analysis of the NPH 1 locus, which was associated with nephronophtisis, was negative. Our observation and two recent publications have in common ocular and renal abnormalities associated with cranio-ectodermal dysplasia. The underlying genetic defect would involve not only morphogenesis but also development and maturation of organs as eye and kidney. Sensenbrenner syndrome would thus be similar to certain disorders affecting the eye, kidney, skeleton and ectodermal structures such as the EEM, Senior-Loken, Mainzer-Saldino, and Jeune syndromes. The retinal dystrophy falls within the spectrum of clinical and genetic forms of pigmentosum retinitis. Our observation would confirm possible links between Sensenbrenner syndrome and oculorenal syndromes.

Epilepsy in fragile-X-syndrome mimicking panayiotopoulos syndrome: Description of three patients.

PubMed

Bonanni, Paolo; Casellato, Susanna; Fabbro, Franco; Negrin, Susanna

2017-10-01

Fragile-X-syndrome is the most common cause of inherited intellectual disability. Epilepsy is reported to occur in 10-20% of individuals with Fragile-X-syndrome. A frequent seizure/electroencephalogram (EEG) pattern resembles that of benign rolandic epilepsy. We describe the clinical features, EEG findings and evolution in three patients affected by Fragile-X-syndrome and epilepsy mimicking Panayiotopoulos syndrome. Age at seizure onset was between 4 and about 7 years. Seizures pattern comprised a constellation of autonomic symptoms with unilateral deviation of the eyes and ictal syncope. Duration of the seizures could be brief or lengthy. Interictal EEGs revealed functional multifocal abnormalities. The evolution was benign in all patients with seizures remission before the age of 14. This observation expands the spectrum of benign epileptic phenotypes present in Fragile-X-syndrome and may be quite helpful in guiding anticonvulsant management and counseling families as to expectations regarding seizure remission. © 2017 Wiley Periodicals, Inc.

Poland syndrome: description of an atypical variant.

PubMed

Ferraro, G A; Perrotta, A; Rossano, F; D'Andrea, F

2005-01-01

Poland syndrome comprises a unilateral absence of the large pectoral muscle, ipsilateral symbrachydactyly, and occasionally other malformations of the anterior chest wall and breast. The condition is more frequent among males, and usually occurs on the right hemithorax in the unilateral form. The syndrome is believed to be caused by a genetic disorder that reduces the embryonal circulation in the interior chest artery: the stronger the interaction, the more severe the pathology. This article analyzes an unusual pathologic case in which the 17-year-old patient lacked the large pectoral muscle on the left side, but showed no arterial alteration. This case raises questions as to the true pathogenesis of this syndrome.

[Description of the Parental Alienation Syndrome in a forensic sample].

PubMed

Vilalta Suárez, Ramón J

2011-11-01

The aim of this paper was to assess the presence of the criteria for Parental Alienation Syndrome (PAS) in a sample of families in the process of divorce. Thirty nine records obtained from family cases evaluated by a forensic psychology service were analyzed. A checklist of criteria was made using the description of PAS, these criteria served to confirm their presence by assessing the three actors in the dynamics of the PAS: both parents and the child. The presence of these criteria was analyzed comparing the groups with and without interruption in the contacts. The results showed a strong correlation between the criteria defining the PAS. The presence of these criteria was much higher in the group with interrupted contacts versus the group with uninterrupted ones. However, taking into account the disorders that were computed in visiting parents, there were no differences between both groups. These results seem to confirm the presence of the criteria of PAS in families that are in a process of marriage breakdown with disruptions or conflicts in the visitation rights.

The Comtesse De Genlis' "Théâtre À L'Usage Des Jeunes Personnes" (1779-1780): Educating for Order and Prejudice in Pre-Revolutionary France

ERIC Educational Resources Information Center

Pinto, Isabel

2017-01-01

This essay explores the educational contribution of the Comtesse de Genlis' "Théâtre à l'usage des jeunes personnes" ["Theatre of Education"] (1792/1779-1780), a four-volume collection of closet drama, in light of the social, political and cultural shifts occurring in France in the period prior to the French Revolution. In…

Descriptive epidemiology of metabolic syndrome among obese adolescent population.

PubMed

Mahbuba, Sharmin; Mohsin, Fauzia; Rahat, Farhana; Nahar, Jebun; Begum, Tahmina; Nahar, Nazmun

2018-05-01

The study was done to assess the magnitude of problems of metabolic syndrome among obese adolescents. It was a cross-sectional study done from January 2013 to June 2014 in paediatric endocrine outpatient department in BIRDEM General Hospital, Dhaka, Bangladesh. Total 172 adolescents having exogenous obesity aged 10-18 years were included. Impaired fasting glucose (IFG), impaired glucose tolerance (IGT) and type 2 diabetes mellitus (DM) were defined as per WHO criteria.The adolescents having Body Mass Index (BMI) ≥95th centile were classified as obese.Waist circumference was measured at the level midway between the lower rib margin & the iliac crest, at the level of umbilicus with the person breathing out gently in centimeter. Hip circumference was measured at the maximum width over the buttocks at the level of the greater trochanters in centimeter. Among 172 obese adolescents, metabolic syndrome was found in 66 patients (38.4%). The commonest metabolic abnormality among those having metabolic syndrome was low HDL level (77.3%) followed by high triglyceride level(71.2%). Glucose intolerance (IFG and/or IGT) was found in 16.7%, Type 2 DM in 10.6%, systolic hypertension in 10.7% and diastolic hypertension in 12.1%. Triglyceride (p = 0.042) and Cholesterol level (p = 0.016) were significantly higher and HDL-cholesterol level (p = 0.000) was significantly lower among obese adolescents having metabolic syndrome. Less physical activity (p = 0.04) was significantly related to the development of metabolic syndrome. On logistic regression analysis male sex, family history of obesity and low HDL-cholesterol correlated to metabolic syndrome. The High rate of metabolic syndrome among obese adolescents is alarming. Copyright © 2018 Diabetes India. Published by Elsevier Ltd. All rights reserved.

Genetics Home Reference: Bartter syndrome

MedlinePlus

... Email Facebook Twitter Home Health Conditions Bartter syndrome Bartter syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Bartter syndrome is a group of very similar kidney disorders ...

Genetics Home Reference: Turner syndrome

MedlinePlus

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

Hunter's Syndrome: Description and Educational Considerations.

ERIC Educational Resources Information Center

Naggs, Teresa

This paper describes characteristics of and educational implications for children with Hunter's syndrome, a rare, genetic lysomal storage disorder resulting from an absence of the enzyme iduronate-2-sulphatase. Boys born with this sex-linked disease are born with little or no clinical manifestations, but generally are diagnosed by the age of three…

Women with silicone breast implants and autoimmune inflammatory syndrome induced by adjuvants: description of three patients and a critical review of the literature.

PubMed

Pavlov-Dolijanovic, Slavica; Vujasinovic Stupar, Nada

2017-08-01

Silicone has been widely used in the manufacture of medical implants. It is well tolerated in most cases. However, in this paper we report the cases of three women who developed autoimmune/inflammatory syndrome induced by adjuvants (ASIA syndrome), namely with silicone breast implants. The symptoms in these cases include arthralgia, arthritis, myalgia, sleep disturbances, the appearance of autoantibodies, miscarriage, Raynaud's phenomenon, and involvement of autoimmune diseases (scleroderma and undifferentiated connective tissue diseases). In one patient, breast implants were removed, but no improvement was seen after the removal. The remaining two patients received the updated information about their condition, and they decided not to remove the implants. In conclusion, earlier reports that silicone is biologically relatively inert have recently been challenged with the description of ASIA syndrome.

Genetics Home Reference: uncombable hair syndrome

MedlinePlus

... Twitter Home Health Conditions Uncombable hair syndrome Uncombable hair syndrome Printable PDF Open All Close All Enable ... to view the expand/collapse boxes. Description Uncombable hair syndrome is a condition that is characterized by ...

Genetics Home Reference: Peters plus syndrome

MedlinePlus

... Facebook Twitter Home Health Conditions Peters plus syndrome Peters plus syndrome Printable PDF Open All Close All ... Javascript to view the expand/collapse boxes. Description Peters plus syndrome is an inherited condition that is ...

Genetics Home Reference: Dubin-Johnson syndrome

MedlinePlus

... Twitter Home Health Conditions Dubin-Johnson syndrome Dubin-Johnson syndrome Printable PDF Open All Close All Enable ... to view the expand/collapse boxes. Description Dubin-Johnson syndrome is a condition characterized by jaundice, which ...

Genetics Home Reference: triple X syndrome

MedlinePlus

... Twitter Home Health Conditions Triple X syndrome Triple X syndrome Printable PDF Open All Close All Enable ... to view the expand/collapse boxes. Description Triple X syndrome , also called trisomy X or 47,XXX, ...

Genetics Home Reference: Kaufman oculocerebrofacial syndrome

MedlinePlus

... Facebook Twitter Home Health Conditions Kaufman oculocerebrofacial syndrome Kaufman oculocerebrofacial syndrome Printable PDF Open All Close All ... Javascript to view the expand/collapse boxes. Description Kaufman oculocerebrofacial syndrome is a disorder characterized by eye ...

Genetics Home Reference: Russell-Silver syndrome

MedlinePlus

... Facebook Twitter Home Health Conditions Russell-Silver syndrome Russell-Silver syndrome Printable PDF Open All Close All ... Javascript to view the expand/collapse boxes. Description Russell-Silver syndrome is a growth disorder characterized by ...

CONCLUSIONS ET RECOMMANDATIONS À L’ISSUE DE LA CONSULTATION DE L’OMS SUR LA LUTTE CONTRE LA CARENCE MARTIALE CHEZ LE NOURRISSON ET LE JEUNE ENFANT DANS LES PAYS D’ENDÉMIE PALUSTRE

PubMed Central

Allen, L.; Black, R.E.; Brandes, N.; Brittenham, G.; Chazot, G.; Chunming, C.; Crawley, J.; de Benoist, B.; Dalmiya, N.; Darnton-Hill, I.; Dewey, K.; El-Arifeen, S.; Fontaine, O.; Geissler, C.; Haberle, H.; Harvey, P.; Hasler, J.; Hershko, C.; Hurrell, R.; Juma, M.A.; Lönnerdal, B.; Lozoff, B.; Lynch, S.; Salgado, H. Martines; McLean, E.; Metz, J.; Oppenheimer, S.; Premji, Z.; Prentice, A.; Ramsan, M.; Ratledge, C.; Stoltzfus, R.; Tielsch, J.; Winachagoon, P.

2011-01-01

Cet article présentent les résultats d'une Consultation d'Experts dont l'objectif était d'évaluer l'efficacité et l'innocuité des suppléments de fer administrés aux nourrissons et aux jeunes enfants dans les zones d’endémie palustre, ainsi que les conséquences d’une telle mesure pour la santé publique. Les participants à cette Consultation, qui s’est déroulée à Lyon (France) les 12–14 juin 2006, se sont entendus sur plusieurs questions importantes concernant l’administration d’une supplémentation martiale aux nourrissons et aux jeunes enfants dans les zones d’endémie palustre. Les conclusions du présent rapport s’appliquent plus particulièrement aux pays où le paludisme est endémique. PMID:18630054

Genetics Home Reference: isolated Duane retraction syndrome

MedlinePlus

... Health Conditions Isolated Duane retraction syndrome Isolated Duane retraction syndrome Printable PDF Open All Close All Enable ... view the expand/collapse boxes. Description Isolated Duane retraction syndrome is a disorder of eye movement. This ...

Genetics Home Reference: cold-induced sweating syndrome

MedlinePlus

... Health Conditions Cold-induced sweating syndrome Cold-induced sweating syndrome Printable PDF Open All Close All Enable ... view the expand/collapse boxes. Description Cold-induced sweating syndrome is characterized by problems with regulating body ...

Genetics Home Reference: brain-lung-thyroid syndrome

MedlinePlus

... Twitter Home Health Conditions Brain-lung-thyroid syndrome Brain-lung-thyroid syndrome Printable PDF Open All Close ... Javascript to view the expand/collapse boxes. Description Brain-lung-thyroid syndrome is a group of conditions ...

Genetics Home Reference: Smith-Lemli-Opitz syndrome

MedlinePlus

... Twitter Home Health Conditions Smith-Lemli-Opitz syndrome Smith-Lemli-Opitz syndrome Printable PDF Open All Close ... Javascript to view the expand/collapse boxes. Description Smith-Lemli-Opitz syndrome is a developmental disorder that ...

Concomitant occurrence of cochleosaccular dysplasia and Down's syndrome.

PubMed

Walby, A P; Schuknecht, H F

1984-07-01

Inherited cochleosaccular dysplasia occurred in a woman coincidentally with Down's syndrome. Study of the right temporal bone revealed abnormalities of the cochlea and saccule consistent with Scheibe 's original description. There was also a short cochlea and small lateral semicircular canal consistent with previous descriptions of Down's syndrome.

Genetics Home Reference: Senior-Løken syndrome

MedlinePlus

... Facebook Twitter Home Health Conditions Senior-Løken syndrome Senior-Løken syndrome Printable PDF Open All Close All ... Javascript to view the expand/collapse boxes. Description Senior-Løken syndrome is a rare disorder characterized by ...

Burning mouth syndrome.

PubMed

Crow, Heidi C; Gonzalez, Yoly

2013-02-01

Pain in the tongue or oral tissues described as "burning" has been referred to by many terms including burning mouth syndrome. When a burning sensation in the mouth is caused by local or systemic factors, it is called secondary burning mouth syndrome and when these factors are treated the pain will resolve. When burning mouth syndrome occurs in the absence of identified risk indicators, the term primary burning mouth syndrome is utilized. This article focuses on descriptions, etiologic theories, and management of primary burning mouth syndrome, a condition for which underlying causative agents have been ruled out. Copyright © 2013. Published by Elsevier Inc.

High-risk syndrome for neuromyelitis optica: a descriptive and comparative study.

PubMed

Collongues, N; Marignier, R; Zéphir, H; Blanc, F; Vukusic, S; Outteryck, O; Fleury, M; Ruet, A; Borgel, F; Thouvenot, E; Moreau, T; Defer, G; Derache, N; Pelletier, J; Audoin, B; Debouverie, M; Labauge, P; Gout, O; Camu, W; Brassat, D; Brochet, B; Vermersch, P; Confavreux, C; de Seze, J

2011-06-01

Neuromyelitis optica (NMO) frequently begins with a monofocal episode of optic neuritis or myelitis. A concept named high-risk syndrome (HRS) for NMO has been proposed for patients with monofocal episodes and NMO-IgG antibodies. To describe HRS patients and compare them with NMO patients. We identified 30 patients with HRS: 18 with extensive myelitis (HRM) and 12 with optic neuritis (HRON), in a database pooling patients from 25 centres in France. Clinical, laboratory/magnetic resonance imaging (MRI) data and outcome were analysed and compared with a national cohort of 125 NMO patients extracted from the same database. Mean follow-up was 4.8 years. Mean age at onset was 42.8 years (range: 12.4-70) with a female:male ratio of 0.9. Asymptomatic lesions were report on visual evoked potentials in 4/8 tested HRM patients and on spinal cord MRI in 2/7 HRON patients. Three patients died, two owing to a cervical lesion. HRS and NMO patients had similar clinical/paraclinical data, except for a predominance of men in the HRS group and a later mean age at onset in the HRM subgroup. The description of HRS patients is compatible with a monofocal form of NMO. Asymptomatic lesions could be included in a new set of NMO diagnostic criteria.

Motor speech skills in children with Down syndrome: A descriptive study.

PubMed

Rupela, Vani; Velleman, Shelley L; Andrianopoulos, Mary V

2016-10-01

Motor speech characteristics of children with Down syndrome (DS) have historically been viewed as either Childhood Dysarthria (CD) or, more infrequently, as Childhood Apraxia of Speech (CAS). The objective of this study was to investigate motor speech deficits in a systematic manner, considering characteristics from both CAS and CD. Motor speech assessments were carried out on seven 3;4-8;11-year old children with DS in comparison with younger, typically-developing children using a Language-Neutral Assessment of Motor Speech for young children (LAMS). Additionally, the motor speech and non-speech oral motor skills of all participants were analysed qualitatively using an investigator checklist of characteristics of CAS, CD and Motor Speech Disorder-Not Otherwise Specified (MSD-NOS). Results indicated that the children with DS exhibited symptoms of CAS, CD and MSD-NOS, with variability within the group and overlapping symptoms of the disorder types. This finding is different from previous assumptions that children with DS have either CD or CAS. The motor speech disorder accompanying DS is complex. The data provide some preliminary descriptions of motor speech disorders in this population and some tools that clinicians would find useful when assessing motor speech skills of young children with DS.

Congenital Auricular Malformations: Description of Anomalies and Syndromes.

PubMed

Bartel-Friedrich, Sylva

2015-12-01

Half of the malformations in the ear, nose, and throat region affect the ear. Malformations of the external ear (pinna or auricle with external auditory canal [EAC]) are collectively termed microtia. Microtia is a congenital anomaly that ranges in severity from mild structural abnormalities to complete absence of the external ear (anotia). Microtia occurs more frequently in males (∼2 or 3:1), is predominantly unilateral (∼70-90%), and more often involves the right ear (∼60%). The reported prevalence varies geographically from 0.83 to 17.4 per 10,000 births. Microtia may be genetic (with family history, spontaneous mutations) or acquired. Malformations of the external ear can also involve the middle ear and/or inner ear. Microtia may be an isolated birth defect, but associated anomalies or syndromes are described in 20 to 60% of cases, depending on study design. These generally fit within the oculo-auriculo-vertebral spectrum; defects are located most frequently in the facial skeleton, facial soft tissues, heart, and vertebral column, or comprise a syndrome (e.g., Treacher Collins syndrome). Diagnostic investigation of microtia includes clinical examination, audiologic testing, genetic analysis and, especially in higher grade malformations with EAC deformities, computed tomography (CT) or cone-beam CT for the planning of surgery and rehabilitation procedures, including implantation of hearing aids. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Development of a standardized job description for healthcare managers of metabolic syndrome management programs in Korean community health centers.

PubMed

Lee, Youngjin; Choo, Jina; Cho, Jeonghyun; Kim, So-Nam; Lee, Hye-Eun; Yoon, Seok-Jun; Seomun, GyeongAe

2014-03-01

This study aimed to develop a job description for healthcare managers of metabolic syndrome management programs using task analysis. Exploratory research was performed by using the Developing a Curriculum method, the Intervention Wheel model, and focus group discussions. Subsequently, we conducted a survey of 215 healthcare workers from 25 community health centers to verify that the job description we created was accurate. We defined the role of healthcare managers. Next, we elucidated the tasks of healthcare managers and performed needs analysis to examine the frequency, importance, and difficulty of each of their duties. Finally, we verified that our job description was accurate. Based on the 8 duties, 30 tasks, and 44 task elements assigned to healthcare managers, we found that the healthcare managers functioned both as team coordinators responsible for providing multidisciplinary health services and nurse specialists providing health promotion services. In terms of importance and difficulty of tasks performed by the healthcare managers, which were measured using a determinant coefficient, the highest-ranked task was planning social marketing (15.4), while the lowest-ranked task was managing human resources (9.9). A job description for healthcare managers may provide basic data essential for the development of a job training program for healthcare managers working in community health promotion programs. Copyright © 2014. Published by Elsevier B.V.

Genetics Home Reference: thiamine-responsive megaloblastic anemia syndrome

MedlinePlus

... Thiamine-responsive megaloblastic anemia syndrome Thiamine-responsive megaloblastic anemia syndrome Printable PDF Open All Close All Enable ... the expand/collapse boxes. Description Thiamine-responsive megaloblastic anemia syndrome is a rare condition characterized by hearing ...

Tourette Syndrome

MedlinePlus

... trials, epidemiology, neurophysiology, neuroimmunology, and descriptive/diagnostic clinical science. Findings from these studies will provide clues for more effective therapies. Information from the National Library of Medicine’s MedlinePlus Tourette Syndrome × What research is ...

Genetics Home Reference: Stevens-Johnson syndrome/toxic epidermal necrolysis

MedlinePlus

... Conditions Stevens-Johnson syndrome/toxic epidermal necrolysis Stevens-Johnson syndrome/toxic epidermal necrolysis Printable PDF Open All ... to view the expand/collapse boxes. Description Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) is a ...

Break-dance: an unusual cause of hammer syndrome.

PubMed

Schneider, Frédéric; Milesi, Ilaria; Haesler, Erik; Wicky, Stephan; Schnyder, P; Denys, Alban

2002-01-01

We report the case of a young break-dancer presenting with hammer syndrome. This syndrome has been correlated with many professional and recreational activities but this is, to our knowledge, the first description of hammer syndrome caused by break-dancing. The etiology, diagnosis and treatment modalities of this rare syndrome are considered.

Break-Dance: An Unusual Cause of Hammer Syndrome

DOE Office of Scientific and Technical Information (OSTI.GOV)

Schneider, Frederic; Milesi, Ilaria; Haesler, Erik

2002-08-15

We report the case of a young break-dancer presenting with hammer syndrome. This syndrome has been correlated with many professional and recreational activities but this is, to our knowledge, the first description of hammer syndrome caused by break-dancing. The etiology, diagnosis and treatment modalities of this rare syndrome are considered.

[A phenotypic description of 26 patients with Ritscher-Schinzel syndrome (cranio-cerebello-cardiac dysplasia or 3C syndrome)].

PubMed

Pira-Paredes, S M; Montoya-Villada, J H; Franco-Restrepo, J L; Moncada-Velez, M; Cornejo, J W

2017-06-01

Ritscher-Schinzel syndrome (also known as cranio-cerebello-cardiac dysplasia or 3C syndrome) is a rare genetic syndrome that is mainly characterised by the association of cardiac and craniofacial anomalies together with others affecting the posterior fossa. We report on 26 patients with Ritscher-Schinzel syndrome at a hospital in Medellin, in the Department of Antioquia, Colombia. Males account for 69% of this cohort. The mean age of the cohort was 30 months, and 42% were under the age of one year at the time of diagnosis. All of them presented ocular disorders, and megalocornea was the most frequent ocular manifestation (69%), whereas low-set ears (80.7%) and septal heart defects (68.7%) were the most common facial and cardiac malformations, respectively. The most frequent malformations of the posterior fossa were megacisterna magna (31.8%) and Dandy-Walker malformation (27%). 84% of the cases had delayed neurodevelopment or intellectual disability. Skeletal manifestations were frequent: the group consisting of camptodactyly, single palmar crease, overlapping fingers, vertical talus and nail hypoplasia were found in hands and feet in 96% of the cases. Ritscher-Schinzel syndrome is a heterogeneous syndrome from the genetic and clinical point of view. These results suggest that the skeletal and ocular abnormalities that were observed can facilitate the phenotypic diagnosis. However, it is necessary to conduct further studies that allow us to gain a deeper knowledge of its prevalence and help identify other genes involved in this syndrome.

Eosinophilic Granulomatosis with Polyangiitis, formerly Churg-Strauss Syndrome (EGPA)

MedlinePlus

... Strauss Syndrome (EGPA) Eosinophilic Granulomatosis with Polyangiitis, formerly Churg-Strauss Syndrome (EGPA) First Description Who gets EGPA (the “ ... granulomatosis with polyangiitis (EGP), formerly known as the Churg-Strauss Syndrome , is a systemic vasculitis. This disease was ...

Genetics Home Reference: X-linked hyper IgM syndrome

MedlinePlus

... Home Health Conditions X-linked hyper IgM syndrome X-linked hyper IgM syndrome Printable PDF Open All ... Javascript to view the expand/collapse boxes. Description X-linked hyper IgM syndrome is a condition that ...

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

PubMed

van der Wal, G; Otten, B J; Brunner, H G; van der Burgt, I

2001-10-01

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 Silver-Russell syndrome (SRS). Final height is ISD less in 3-M syndrome than in SRS. Growth hormone treatment significantly increased final height in two of our patients. 3-M syndrome can be differentiated from other types of dwarfism by clinical criteria and by the demonstration of characteristically slender long bones and foreshortened vertebral bodies. We propose that calculating the metacarpal and vertebral indices can be used to measure and document this important diagnostic feature. While the gonadal status of female patients with 3-M syndrome is completely normal, male patients have a gonadal dysfunction and sub- or infertility.

Genetics Home Reference: alpha thalassemia X-linked intellectual disability syndrome

MedlinePlus

... thalassemia X-linked intellectual disability syndrome Alpha thalassemia X-linked intellectual disability syndrome Printable PDF Open All ... view the expand/collapse boxes. Description Alpha thalassemia X-linked intellectual disability syndrome is an inherited disorder ...

Genetics Home Reference: immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome

MedlinePlus

... Health Conditions IPEX syndrome Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome Printable PDF Open All Close All ... expand/collapse boxes. Description Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome primarily affects males and is ...

[Tall stature: some classical syndromes].

PubMed

Gusbin, N; Verloes, A; Daly, A; Beckers, A

2006-01-01

We describe the findings of XYY syndrome in the setting of encountering an individual with this particular condition in the endocrinology clinic. XYY syndrome is a relatively frequent if unfamiliar condition, which is characterized by taller than average height. The extra Y chromosome may play a role in determining the height of these individuals. From this case, a differential diagnosis of tall stature is outlined, in addition to a description of the principal syndromes associated with gigantism. These primarily include Klinefelter syndrome, Marfan syndrome, androgen resistance and growth hormone excess. These various entities are described from the point of view of their symptomatology, biology, pathophysiology and therapeutic characteristics.

Spine deformities in rare congenital syndromes: clinical issues.

PubMed

Campbell, Robert M

2009-08-01

A focused review of the literature with regard to the important system abnormalities of patients with spinal deformities associated with exotic congenital syndromes with additional data from the author's own experience in assessment of patients with rare syndromes treated for thoracic insufficiency syndrome. The objectives of this study are to emphasize important medical considerations that influence the choice of surgical treatment of spinal deformity in patients with exotic congenital syndromes and point out preoperative strategies that reduce treatment morbidity and mortality of these patients. Individual experience is limited in the treatment of spine abnormality in rare exotic syndromes and the medical aspects of these syndromes that may impact spinal treatment are seldom discussed in detail in the orthopedic literature. For a successful outcome in the treatment of spinal deformity in these unique patients, a working knowledge of the unique pitfalls in their medical care is necessary in order to avoid morbidity and mortality during their treatment. The literature was reviewed for 6 exotic congenital syndromes with known or unreported spinal abnormalities and the author's personal 22-years experience of the treatment of thoracic insufficiency syndrome in the relevant congenital syndromes was summarized. Children with Marfan syndrome and spinal deformity may have serious cardiac abnormalities. Spontaneous dissection of the aortic root is a clear danger and patients should be monitored by serial echocardiograms. Prophylactic cardiac surgery may be necessary before spinal surgery is to be performed. Patients with Jeune syndrome have a high rate of proximal cervical stenosis and should undergo screening with cervical spine films at birth. Significant stenosis or instability may require decompression and cervical-occipital fusion. Arthrogryposis may be associated with a severe scoliosis and jaw contracture may make intubation difficult. Larsen syndrome may have

Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort.

PubMed

Lavoine, N; Colas, C; Muleris, M; Bodo, S; Duval, A; Entz-Werle, N; Coulet, F; Cabaret, O; Andreiuolo, F; Charpy, C; Sebille, G; Wang, Q; Lejeune, S; Buisine, M P; Leroux, D; Couillault, G; Leverger, G; Fricker, J P; Guimbaud, R; Mathieu-Dramard, M; Jedraszak, G; Cohen-Hagenauer, O; Guerrini-Rousseau, L; Bourdeaut, F; Grill, J; Caron, O; Baert-Dusermont, S; Tinat, J; Bougeard, G; Frébourg, T; Brugières, L

2015-11-01

Constitutional mismatch repair deficiency (CMMRD) syndrome is a childhood cancer predisposition syndrome involving biallelic germline mutations of MMR genes, poorly recognised by clinicians so far. Retrospective review of all 31 patients with CMMRD diagnosed in French genetics laboratories in order to describe the characteristics, treatment and outcome of the malignancies and biological diagnostic data. 67 tumours were diagnosed in 31 patients, 25 (37%) Lynch syndrome-associated malignancies, 22 (33%) brain tumours, 17 (25%) haematological malignancies and 3 (5%) sarcomas. The median age of onset of the first tumour was 6.9 years (1.2-33.5). Overall, 22 patients died, 9 (41%) due to the primary tumour. Median survival after the diagnosis of the primary tumour was 27 months (0.26-213.2). Failure rate seemed to be higher than expected especially for T-cell non-Hodgkin's lymphoma (progression/relapse in 6/12 patients). A familial history of Lynch syndrome was identified in 6/23 families, and consanguinity in 9/23 families. PMS2 mutations (n=18) were more frequent than other mutations (MSH6 (n=6), MLH1 (n=4) and MSH2 (n=3)). In conclusion, this unselected series of patients confirms the extreme severity of this syndrome with a high mortality rate mostly related to multiple childhood cancers, and highlights the need for its early detection in order to adapt treatment and surveillance. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

PubMed Central

Schmidts, Miriam; Arts, Heleen H; Bongers, Ernie M H F; Yap, Zhimin; Oud, Machteld M; Antony, Dinu; Duijkers, Lonneke; Emes, Richard D; Stalker, Jim; Yntema, Jan-Bart L; Plagnol, Vincent; Hoischen, Alexander; Gilissen, Christian; Forsythe, Elisabeth; Lausch, Ekkehart; Veltman, Joris A; Roeleveld, Nel; Superti-Furga, Andrea; Kutkowska-Kazmierczak, Anna; Kamsteeg, Erik-Jan; Elçioğlu, Nursel; van Maarle, Merel C; Graul-Neumann, Luitgard M; Devriendt, Koenraad; Smithson, Sarah F; Wellesley, Diana; Verbeek, Nienke E; Hennekam, Raoul C M; Kayserili, Hulya; Scambler, Peter J; Beales, Philip L; Knoers, Nine VAM; Roepman, Ronald; Mitchison, Hannah M

2013-01-01

Background Jeune asphyxiating thoracic dystrophy (JATD) is a rare, often lethal, recessively inherited chondrodysplasia characterised by shortened ribs and long bones, sometimes accompanied by polydactyly, and renal, liver and retinal disease. Mutations in intraflagellar transport (IFT) genes cause JATD, including the IFT dynein-2 motor subunit gene DYNC2H1. Genetic heterogeneity and the large DYNC2H1 gene size have hindered JATD genetic diagnosis. Aims and methods To determine the contribution to JATD we screened DYNC2H1 in 71 JATD patients JATD patients combining SNP mapping, Sanger sequencing and exome sequencing. Results and conclusions We detected 34 DYNC2H1 mutations in 29/71 (41%) patients from 19/57 families (33%), showing it as a major cause of JATD especially in Northern European patients. This included 13 early protein termination mutations (nonsense/frameshift, deletion, splice site) but no patients carried these in combination, suggesting the human phenotype is at least partly hypomorphic. In addition, 21 missense mutations were distributed across DYNC2H1 and these showed some clustering to functional domains, especially the ATP motor domain. DYNC2H1 patients largely lacked significant extra-skeletal involvement, demonstrating an important genotype–phenotype correlation in JATD. Significant variability exists in the course and severity of the thoracic phenotype, both between affected siblings with identical DYNC2H1 alleles and among individuals with different alleles, which suggests the DYNC2H1 phenotype might be subject to modifier alleles, non-genetic or epigenetic factors. Assessment of fibroblasts from patients showed accumulation of anterograde IFT proteins in the ciliary tips, confirming defects similar to patients with other retrograde IFT machinery mutations, which may be of undervalued potential for diagnostic purposes. PMID:23456818

An Individual with Gilles de la Tourette Syndrome and Smith-Magenis Microdeletion Syndrome: Is Chromosome 17p11.2 a Candidate Region for Tourette Syndrome Putative Susceptibility Genes?

ERIC Educational Resources Information Center

Shelley, B. P.; Robertson, M. M.; Turk, J.

2007-01-01

This is the first published case description in the current literature of the association of definite Gilles de la Tourette syndrome (GTS) and the Smith-Magenis syndrome (SMS), both confirmed by DSM-IV-TR criteria and molecular cytogenetic analysis, respectively. The co-occurrence of GTS, SMS and their common behavioural/neuropsychiatric…

[Congenital cardiopathy in a patient with Sotos syndrome. Description of a case].

PubMed

Di Marco, G; Levantesi, G; Parisi, G; Chiarelli, A

1989-05-01

The number of cases of Sotos syndrome or cerebral gigantism described in the literature total more than 200. For 6 of these, cardiac malformations were described. The authors report a case of Sotos syndrome in which malformative alterations of the aortic and mitral valves were simultaneously present.

Demons syndrome revisited: a review of the literature.

PubMed

Brun, Jean-Luc

2007-06-01

To report various descriptions of the combination of a benign genital tumour with pleural and/or abdominal effusion throughout the years and to determine the paternity of this syndrome, commonly known as Meigs' syndrome. A systematic review of the literature from 1728 to 2004. Before 1880, publications were rare and limited to clinical and anatomical descriptions drawing no conclusions between the cause and effect of this condition and even less about its management. Demons described the syndrome between 1887 and 1902. He was the first to specify that removal of the tumour (benign ovarian cyst, solid ovarian tumour, fibroma of the broad ligament) was essential for the patient to be cured of the effusions and that it was wrong to postpone surgery. In 1937, Meigs arrived at the same findings concerning ovarian fibromas and granulosa cell tumours, hence the name of Demons-Meigs which was given to this syndrome with the agreement of Meigs. Current literature reports on pseudosyndromes of Demons-Meigs including genital malignancies with negative cytology. These entities should not be called Demons or Meigs pseudosyndromes. Inversely, all benign tumours of the genital tract should be included in Demons syndrome, even if Demons did not actually encounter any during his years of practice, but it was in the spirit of his observations. Demons' syndrome includes all benign genital tumours, the Demons-Meigs eponym is reserved for the description of ovarian fibromas and granulosa cell tumours, and the Demons' pseudosyndrome includes all other entities.

Small for Size and Flow (SFSF) syndrome: An alternative description for posthepatectomy liver failure.

PubMed

Golriz, Mohammad; Majlesara, Ali; El Sakka, Saroa; Ashrafi, Maryam; Arwin, Jalal; Fard, Nassim; Raisi, Hanna; Edalatpour, Arman; Mehrabi, Arianeb

2016-06-01

Small for Size Syndrome (SFSS) syndrome is a recognizable clinical syndrome occurring in the presence of a reduced mass of liver, which is insufficient to maintain normal liver function. A definition has yet to be fully clarified, but it is a common clinical syndrome following partial liver transplantation and extended hepatectomy, which is characterized by postoperative liver dysfunction with prolonged cholestasis and coagulopathy, portal hypertension, and ascites. So far, this syndrome has been discussed with focus on the remnant size of the liver after partial liver transplantation or extended hepatectomy. However, the current viewpoints believe that the excessive flow of portal vein for the volume of the liver parenchyma leads to over-pressure, sinusoidal endothelial damages and haemorrhage. The new hypothesis declares that in both extended hepatectomy and partial liver transplantation, progression of Small for Size Syndrome is not determined only by the "size" of the liver graft or remnant, but by the hemodynamic parameters of the hepatic circulation, especially portal vein flow. Therefore, we suggest the term "Small for Size and Flow (SFSF)" for this syndrome. We believe that it is important for liver surgeons to know the pathogenesis and manifestation of this syndrome to react early enough preventing non-reversible tissue damages. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

Burning mouth syndrome: Clinical description, pathophysiological approach, and a new therapeutic option.

PubMed

Cárcamo Fonfría, A; Gómez-Vicente, L; Pedraza, M I; Cuadrado-Pérez, M L; Guerrero Peral, A L; Porta-Etessam, J

2017-05-01

Burning mouth syndrome is defined as scorching sensation in the mouth in the absence of any local lesions or systemic disease that would explain that complaint. The condition responds poorly to commonly used treatments and it may become very disabling. We prospectively analysed the clinical and demographic characteristics and response to treatment in 6 cases of burning mouth syndrome, diagnosed at 2 tertiary hospital headache units. Six female patients between the ages of 34 and 82 years reported symptoms compatible with burning mouth syndrome. In 5 of them, burning worsened at the end of the day; 4 reported symptom relief with tongue movements. Neurological examinations and laboratory findings were normal in all patients and their dental examinations revealed no buccal lesions. Each patient had previously received conventional treatments without amelioration. Pramipexol was initiated in doses between 0.36mg and 1.05mg per day, resulting in clear improvement of symptoms in all cases, a situation which continues after a 4-year follow up period. Burning mouth syndrome is a condition of unknown aetiology that shares certain clinical patterns and treatment responses with restless leg syndrome. Dopamine agonists should be regarded as first line treatment for this entity. Copyright © 2015 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.

Expanding the phenotype of alopecia-contractures-dwarfism mental retardation syndrome (ACD syndrome): description of an additional case and review of the literature.

PubMed

Schell-Apacik, Chayim; Hardt, Michael; Ertl-Wagner, Birgit; Klopocki, Eva; Möhrenschlager, Matthias; Heinrich, Uwe; von Voss, Hubertus

2008-09-01

Alopecia-contractures-dwarfism mental retardation syndrome (ACD syndrome; OMIM 203550) is a very rare genetic disorder with distinct features. To our knowledge, there have been four cases documented to date. In addition, another three patients, previously described as having IFAP syndrome (OMIM %308205), may also have ACD syndrome. We report on one patient with short stature, total alopecia, ichthyosis, photophobia, seizures, ectrodactyly, vertebral anomalies, scoliosis, multiple contractures, mental retardation, and striking facial and other features (e.g. microdolichocephaly, missing eyebrows and eyelashes, long nose, large ears) consistent with ACD syndrome. Results of laboratory testing in the literature case reports were normal, although in none of them, array-CGH (microarray-based comparative genomic hybridization) analysis was performed. In conclusion, the combination of specific features, including total alopecia, ichthyosis, mental retardation, and skeletal anomalies are suggestive of ACD syndrome. We propose that children with this syndrome undergo a certain social pediatric protocol including EEG diagnostics, ophthalmological investigation, psychological testing, management of dermatologic and orthopedic problems, and genetic counseling.

Electrodiagnostic findings in a patient with Waardenburg syndrome.

PubMed

Ahmed, Aiesha; Simmons, Zachary

2009-09-01

Waardenburg syndrome is associated with a variety of clinical features, which may include polyneuropathy. We describe a patient with Waardenburg syndrome type 2 and provide detailed electrodiagnostic findings, thus complementing the biopsy data and brief descriptions of nerve conduction studies found in the literature.

Genetics Home Reference: tumor necrosis factor receptor-associated periodic syndrome

MedlinePlus

... Email Facebook Twitter Home Health Conditions TRAPS Tumor necrosis factor receptor-associated periodic syndrome Printable PDF Open ... to view the expand/collapse boxes. Description Tumor necrosis factor receptor-associated periodic syndrome (commonly known as ...

Nephrotic Syndrome Associated with Renal Vein Thrombosis

PubMed Central

Kang, Sung Kyew; Park, Sung Kwang

1987-01-01

The coexistence of nephrotic syndrome and renal vein thrombosis has been of medical interest since Rayer’s description in 1840. Renal vein thrombosis has been underdiagnosed because of its variable clinical and radiological findings but it becomes a more frequently recognizable clinical entity since diagnosis can be easily established by modern angiographic techniques. Generally it has been believed that renal vein thrombosis may cause nephrotic syndrome. But recent articles strongly suggest that renal vein thrombosis is a complication of the nephrotic syndrome rather than a cause. We report three cases of nephrotic syndrome associated with renal vein thrombosis. PMID:3154812

Burnout syndrome prevalence in physiotherapists.

PubMed

González-Sánchez, Blanca; López-Arza, María Victoria González; Montanero-Fernández, Jesús; Varela-Donoso, Enrique; Rodríguez-Mansilla, Juan; Mingote-Adán, José Carlos

2017-04-01

To evaluate burnout syndrome in its three aspects, jointly as well as independently, in physiotherapists from the Extremadura region (Spain). Analytic descriptive epidemiological transversal trial in primary care and institutional practice, with physiotherapists practicing in Extremadura who met the inclusion criteria, after having signed an informed consent form. Emotional exhaustion, depersonalization and low professional accomplishment were the outcomes measured. Physiotherapists from Extremadura show a 65.23 point level of burnout syndrome, according to the Maslach Burnout Inventory questionnaire. Therefore, they are positioned in the middle of the rating scale for the syndrome, and very near to the high level at starting score of 66 points. Physiotherapists in Extremadura present moderate scores for the three dimensions of burnout syndrome, namely, emotional exhaustion, depersonalization and low professional accomplishment. For this reason, they are in the moderate level of the syndrome and very near to the high level, which starts at a score of 66 points. No relation between burnout syndrome and age has been found in our study.

Medical Conditions and Medication Use in Adults with Down Syndrome: A Descriptive Analysis

ERIC Educational Resources Information Center

Kerins, Gerard; Petrovic, Kimberly; Bruder, Mary Beth; Gruman, Cynthia

2008-01-01

Background: We examined the presence of medical conditions and medication use within a sample of adults with Down syndrome. Methods: Retrospective chart review using a sample of 141 adults with Down syndrome and age range of 30 to 65 years. Results: We identify 23 categories of commonly occurring medical conditions and 24 categories of medications…

Histopathological features of Proteus syndrome.

PubMed

Hoey, S E H; Eastwood, D; Monsell, F; Kangesu, L; Harper, J I; Sebire, N J

2008-05-01

Proteus syndrome is a rare, sporadic overgrowth disorder for which the underlying genetic defect remains unknown. Although the clinical course is well-described there is no systematic histopathological description of the lesional pathology. To describe the histopathological features encountered in a series of patients with Proteus syndrome from a single centre. Patients with Proteus syndrome who had undergone therapeutic surgical resection or biopsy were identified from a database and the histopathological findings were reviewed, with particular regard to descriptive features of the underlying tissue abnormality. There were 18 surgical specimens from nine patients, median age 4 years (range 1-9), classified into four main categories: soft-tissue swellings (lipomatous lesions), vascular anomalies (vascular malformation and haemangioma), macrodactyly (hamartomatous overgrowth) and others (sebaceous naevus and nonspecific features). In all cases, the clinical features of overgrowth were due to increased amounts of disorganized tissue, indicating a hamartomatous-type defect in which normal tissue constituents were present, but with an abnormal distribution and architecture. Vascular malformations represented a prominent category of lesions, accounting for 50% of the specimens, predominantly comprising lymphatic and lymphovascular malformations. No malignancy or cytological atypia was identified in any case. The histopathological features of lesions resected from children with Proteus syndrome predominantly include hamartomatous mixed connective tissue lesions, benign neoplasms such as lipomata, and lymphatic-rich vascular malformations.

Stuttering treatment for a school-age child with Down syndrome: a descriptive case report.

PubMed

Harasym, Jessica; Langevin, Marilyn

2012-12-01

Little is known about optimal treatment approaches and stuttering treatment outcomes for children with Down syndrome. The purpose of this study was to investigate outcomes for a child with Down syndrome who received a combination of fluency shaping therapy and parent delivered contingencies for normally fluent speech, prolonged speech, and stuttered speech. In-clinic speech measures obtained at post-treatment and at 4 months follow-up reflected improvements in fluency of 89.0% and 98.6%, respectively. The participant's beyond-clinic follow-up sample reflected an improvement of 95.5%. Following treatment, the participant demonstrated improved self-confidence, self-esteem, and improved participation and functioning at school. Findings suggest that fluency shaping with parental contingencies may be a viable treatment approach to reduce stuttering in children with Down syndrome. Future research using an experimental research design is warranted. Readers will be able to describe (a) prevalence estimates of stuttering in individuals with Down syndrome, (b) the main components of a fluency shaping program for a child with Down syndrome who stutters and has co-occurring speech and language delays, and (c) speech and parent-, teacher-, and self-report treatment outcomes. Copyright © 2012 Elsevier Inc. All rights reserved.

Genetics Home Reference: sudden infant death with dysgenesis of the testes syndrome

MedlinePlus

... Facebook Twitter Home Health Conditions SIDDT Sudden infant death with dysgenesis of the testes syndrome Printable PDF ... view the expand/collapse boxes. Description Sudden infant death with dysgenesis of the testes syndrome ( SIDDT ) is ...

Profuse congenital familial milia with absent dermatoglyphics (Basan's Syndrome): description of a new family.

PubMed

Luna, Paula Carolina; Larralde, Margarita

2012-01-01

Milia are common, small, keratin-containing cysts frequently seen in all age groups. They may arise spontaneously or develop after a variety of stimuli. They can be found alone or as part of syndromes. We present a female neonate born not only with profuse facial milia, but also with acral bullae and absent dermatoglyphics. Similar features were seen in several members of her family. These findings correspond to the syndrome known as Basan's syndrome, a rare autosomal-dominant inherited dermatosis characterized by profuse congenital milia, transient neonatal acral bullae, and absence of dermatoglyphics. © 2011 Wiley Periodicals, Inc.

[Correlation of metabolic syndrome components in older Mexican women].

PubMed

Ramírez-Arriola, Maria Cleofas; Mendoza-Romo, Margarita Paz; González-Rubio, Marco Vinicio; López-Esqueda, Francisco Javier; Mendoza-Romo, Miguel Angel; Velasco-Chávez, José Fernando

2011-01-01

In woman aged over 60 years, body changes occur and might cause insulin resistance and metabolic syndrome. To determine the relationship between the components of metabolic syndrome, insulin resistance and body mass index in women over 60 years, attended at the Geriatric Services in the Dr. Ignacio Morones Prieto Hospital in San Luis Potosi, Mexico. We performed an observational, descriptive and transversal study with non-probability sampling, selecting 61 women aged 60 years attended from 2006 to 2008, who have measured the body mass index (BMI), insulin resistance and homeostasis model (HOMA2), and identifying the components of metabolic syndrome according to the criteria of the World Health Organization. We used descriptive and inferential statistics with r Pearson and Chi Square. The mean age was 68 years. The average HOMA2 were 1.4 and 75 percentile 1.9. The prevalence of metabolic syndrome was present in 23%. The association test with a p < 0.05 was considered significant for metabolic syndrome dysglucemia and obesity, but not for other components of metabolic syndrome. The triglycerides level correlated with insulin resistance (r = 0.325, p = 0.011), insulin resistance with glucose (r = 0.535, p = 0.000) and insulin resistance with BMI (r = 0.282, p = 0.28). It is important to properly define the components for the presence of metabolic syndrome in older women due to not all who qualify as obese have metabolic syndrome, and neither all the metabolic syndrome are associated with insulin resistance. The single alteration of one of the components of metabolic syndrome is not sufficient to cause insulin resistance.

Invasive fungal infections in endogenous Cushing's syndrome

PubMed Central

Scheffel, Rafael Selbach; Dora, José Miguel; Weinert, Letícia Schwerz; Aquino, Valério; Maia, Ana Luiza; Canani, Luis Henrique; Goldani, Luciano Z.

2010-01-01

Cushing's syndrome is a condition characterized by elevated cortisol levels that can result from either augmented endogenous production or exogenous administration of corticosteroids. The predisposition to fungal infections among patients with hypercortisolemia has been noted since Cushing's original description of the disease. We describe here a patient with endogenous Cushing's syndrome secondary to an adrenocortical carcinoma, who developed concomitant disseminated cryptococcosis and candidiasis in the course of his disease. PMID:24470886

[The syndrome of Cotard: an overview].

PubMed

Van den Eynde, F; Debruyne, H; Portzky, M; De Saedeleer, S; Audenaert, K

2008-01-01

There is increasing controversy about whether psychiatric illnesses should be divided into categories. One of the reasons is that such a categorial system, by its very nature, cannot provide a detailed description of specific psychopathological symptoms. A patient with Cotard's syndrome, for instance, is characterised by a nihilistic delusion relating to his own body and the syndrome does not fit into any one category. We report on a case of Cotard's syndrome encountered at our clinic. To provide an overview of the characteristics of Cotard's syndrome, including its history, phenomenology, pathogenesis and treatment. A Medline search was conducted for the period 1980-2006 using the search term 'Cotard$'. This resulted in 68 publications, of which 18 were not used. Cross-references were used as well. Cotard's syndrome cannot be fitted unambiguously into any one category of the current classification system. Current evidence regarding Cotard's syndrome is based mainly on case studies and therefore no clarity can be obtained about the various aspects of the syndrome, such as prevalence, pathogenesis, treatment.

Stuttering Treatment for a School-Age Child with Down Syndrome: A Descriptive Case Report

ERIC Educational Resources Information Center

Harasym, Jessica; Langevin, Marilyn

2012-01-01

Background: Little is known about optimal treatment approaches and stuttering treatment outcomes for children with Down syndrome. Aims and method: The purpose of this study was to investigate outcomes for a child with Down syndrome who received a combination of fluency shaping therapy and parent delivered contingencies for normally fluent speech,…

The Efficacy of Social Skills Treatment for Children with Asperger Syndrome

ERIC Educational Resources Information Center

Elder, Lisa M.; Caterino, Linda C.; Chao, Janet; Shaknai, Dina; De Simone, Gina

2006-01-01

Children with Asperger Syndrome present with significant social skills deficits, which may contribute to clinical problems such as anxiety, depression, and/or other behavioral disorders. This article provides a description of the nature of Asperger Syndrome and provides possible treatment interventions, specifically focusing on the efficacy of…

[Evaluation of the primary caregiver syndrome when caring for elderly adults with immobility syndrome].

PubMed

Morales-Cariño, Elizabeth María; Jiménez-Herrera, Blanca L; Serrano-Miranda, Tirzo A

2012-01-01

Caregiver syndrome may develop in caregivers of elderly adults. To evaluate the repercussions of the immobility syndrome present in elderly adults on their primary caregivers as well as to determine the clinical and socio-demographic characteristics of the elderly adult and caregiver. The study population included patients over 65 recruited in the Geriatric Rehabilitation Department, with the diagnosis of immobility syndrome and that required a primary caregiver. A questionnaire including socio-demographic variables was applied to all patients and caregivers, and the Zarit scale was also applied to caregivers in order to determine the presence of caregiver syndrome. Analysis was performed with descriptive statistical methods; Student's t test and Fisher's test were used for comparisons between strata. 75 patients and their caregivers were evaluated; patient average age was 75.9 years and 85.3% were female. 50.7% (38 cases) had mild immobility. The average caregiver's age was 50.6%, 70.7% were female and 57.3% were the patient's daughter. Caregiver syndrome was detected in 60% of them: 57.7% had mild symptoms and in 42.2%, symptoms were moderate to severe. No statistically significant association was established between the development of caregiver syndrome and the degree of patient immobility. Caregivers of patients with immobility syndrome are at high risk of developing caregiver syndrome, thus underscoring the need to include primary caregiver support programs.

Genetics Home Reference: Pitt-Hopkins syndrome

MedlinePlus

... Hollander NS, Jongmans M, Kant SG, King MD, Lynch SA, McKee S, Midro AT, Park SM, Ricotti V, Tarantino E, Wessels M, Peippo M, Rauch A. Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients. ...

Dysphagia in Rett Syndrome: A Descriptive Study.

PubMed

Mezzedimi, Chiara; Livi, Walter; De Felice, Claudio; Cocca, Serena

2017-09-01

Rett syndrome (RS) is a neurodevelopmental disorder and the second major cause of mental retardation in females. The aim of this study was to evaluate swallowing problems of RS patients by endoscopic assessment and compile a list of suggestions for managing feeding and preventing complications. The sample consisted of 61 female patients (mean age = 13.6 years, range, 2-33 years) admitted to the Department of Neuropsychiatry, where they had previously been diagnosed with RS. Speech evaluation associated with observation during mealtimes was useful to formulate suggestions for caregivers. Progressive deterioration of feeding was commonly noted by caregivers. Fifty-four patients had a history of recurrent episodes of bronchitis. Oral apraxia, dyskinetic tongue movements, prolonged oral stage, and poor bolus formation were the most common findings in all patients. Dysphagia was primarily limited to oral preparatory phases, while the pharyngeal phase was normal in most patients. The high percentage of dysphagia suggests the need to accurately monitor the feeding capability of RS children. It is critical to correctly inform caregivers about safe swallowing procedures to reduce the incidence of fatal complications.

Cause rare d’insuffisance rénale aigue: géant calcul de vessie chez une jeune femme

PubMed Central

Mohammed, Bounoual; Mustapha, Ahsaini; Karim, Tazi; Hamid, Azelmad; Mohammed, Alila; Soufiane, Mellas; eddine, El Ammari Jalal; Fadl, Tazi Mohammed; Jamal, El Fassi Mohammed; Hassan, Farih Moulay

2018-01-01

Géant calcul de vessie se définit par un poids supérieur à 100 g, c'est une pathologie rare chez la femme, environ 2%. La localisation vésicale ne dépasse pas 5% de l'ensemble des voies urinaires. Chez la femme l'apparition de calcul de vessie est souvent secondaire à un facteur prédisposant notamment un corps étranger intra vésical, vessie neurogene, les infections urinaires à répétition, ATCDS de chirurgie de l'incontinence urinaire d'effort. Mais on retrouve des calculs de vessie sans causes évidentes dits calculs primaires idiopathiques. On rapporte un cas d'une jeune patiente de 31 ans avec un géant calcul de vessie qui a retenti sur le haut appareil urinaire entrainant une insuffisance rénale aigue. La patiente a bénéficié initialement d'un drainage de haut appareil urinaire par des néphrostomies bilatérales puis elle a bénéficié d'une cystolithotomie à ciel ouvert d'un gros calcul de vessie. Un bilan étiologique a été demandé pourtant n'a pas identifié de cause évidente. PMID:29632626

Cleft-palate lateral synechia syndrome: insight into the phenotypic spectrum of Fryns syndrome?

PubMed

Jaeger, April; Kapur, Raj; Whelan, Michael; Leung, Eric; Cunningham, Michael

2003-06-01

In 1972, Fuhrmann et al. (Humangenetik 1972;14:196-203) described a novel syndrome consisting of cleft palate (CP) and lateral synechiae (LS) between the palate and the floor of the mouth. This constellation of malformations, since denoted as cleft-palate lateral synechiae syndrome (CPLS), is a rare syndrome; only five cases have been reported since the original description. Because of the paucity of recognized cases, little is known regarding the phenotypic spectrum of this presumably autosomal dominant condition. We report two unrelated patients who presented with remarkably similar phenotypic features, including multiple intraoral synechiae (filiforme intraalveolar bands), cleft palate, micrognathia, and redundant lower lip tissue. Their phenotypic findings indicate a diagnosis of CPLS; however, case 3 (the monozygotic twin of case 2) had classic phenotypic features of Fryns syndrome. This report presents two new cases of CPLS, and suggests that the CPLS phenotype may represent the mild end of the Fryns syndrome phenotypic spectrum. Supplementary material for this article can be found on the Birth Defects Research (Part A) website (http://www.interscience.wiley.com/ jpages/1542-0752/suppmat/67/fig5.xls).

Genes and Syndromic Hearing Loss.

ERIC Educational Resources Information Center

Keats, Bronya J. B.

2002-01-01

This article provides a description of the human genome and patterns of inheritance and discusses genes that are associated with some of the syndromes for which hearing loss is a common finding, including: Waardenburg, Stickler, Jervell and Lange-Neilsen, Usher, Alport, mitochondrial encephalomyopathy, and sensorineural hearing loss. (Contains…

Cotard Syndrome without Depressive Symptoms in a Schizophrenic Patient.

PubMed

Morgado, Pedro; Ribeiro, Ricardo; Cerqueira, João J

2015-01-01

Introduction. Cotard syndrome is a rare condition characterized by nihilistic delusions concerning body or life that can be found in several neuropsychiatry conditions. It is typically associated with depressive symptoms. Method. We present a case of Cotard syndrome without depressive symptoms in the context of known paranoid schizophrenia. A literature review of Cotard syndrome in schizophrenia was performed. Results. Although there are few descriptions of this syndrome in schizophrenia, patients usually present depressive mood and psychomotor retardation, features not seen in our patient. Loss of the sense of the inner self, present in schizophrenia, could explain patient's symptomatology but neurobiological bases of this syndrome remain unclear. Conclusion. Despite not being considered in actual classifications, Cotard syndrome is still relevant and psychiatric evaluation is critical to diagnosing and treating this condition in psychiatric patients.

Cotard Syndrome without Depressive Symptoms in a Schizophrenic Patient

PubMed Central

Morgado, Pedro; Ribeiro, Ricardo; Cerqueira, João J.

2015-01-01

Introduction. Cotard syndrome is a rare condition characterized by nihilistic delusions concerning body or life that can be found in several neuropsychiatry conditions. It is typically associated with depressive symptoms. Method. We present a case of Cotard syndrome without depressive symptoms in the context of known paranoid schizophrenia. A literature review of Cotard syndrome in schizophrenia was performed. Results. Although there are few descriptions of this syndrome in schizophrenia, patients usually present depressive mood and psychomotor retardation, features not seen in our patient. Loss of the sense of the inner self, present in schizophrenia, could explain patient's symptomatology but neurobiological bases of this syndrome remain unclear. Conclusion. Despite not being considered in actual classifications, Cotard syndrome is still relevant and psychiatric evaluation is critical to diagnosing and treating this condition in psychiatric patients. PMID:26101683

Descriptions of vestibular migraine and Menière's disease in Greek and Chinese antiquity.

PubMed

Huppert, Doreen; Brandt, Thomas

2017-04-01

Background Vestibular migraine and Menière's disease are two types of episodic vertigo syndromes that were already observed in Greek and Chinese antiquity. Descriptions first appeared in the work of the classical Greek physician Aretaeus of Cappadocia, who lived in the 2nd century AD, and in Huangdi Neijing, a seminal medical source in the Chinese Medical Classics, written between the 2nd century BC and the 2nd century AD. Aim The aim of this paper is to search in Aretaeus' book De causis et signis acutorum et chronicorum morborum and in Huangdi Neijing for descriptions of vertigo co-occurring with headache or ear symptoms that resemble current classifications of vestibular migraine or Menière's disease. Results Aretaeus describes a syndrome combining headache, vertigo, visual disturbance, oculomotor phenomena, and nausea that resembles the symptoms of vestibular migraine. In the Chinese book Huangdi Neijing the Yellow Thearch mentions the co-occurrence of episodic dizziness and a ringing noise of the ears that recalls an attack of Menière's disease. Conclusions The descriptions of these two conditions in Greek and Chinese antiquity are similar to the vertigo syndromes currently classified as vestibular migraine and Menière's disease. In clinical practice it may be difficult to clearly differentiate between them, and they may also co-occur.

Genetics Home Reference: Sjögren-Larsson syndrome

MedlinePlus

... view the expand/collapse boxes. Description Sjögren-Larsson syndrome is a condition characterized by dry, scaly skin (ichthyosis); neurological problems; and eye problems. These symptoms are apparent by early childhood ...

A macro-level fetal alcohol syndrome prevention program for Native Americans and Alaska Natives: description and evaluation.

PubMed

May, P A; Hymbaugh, K J

1989-11-01

Presented here are a detailed description and outcome evaluation of a comprehensive, macro-level Fetal Alcohol Syndrome prevention program for Native Americans and Alaska Natives. The program was designed to provide native communities throughout the United States with the knowledge, skills and strategies to initiate primary, secondary and tertiary prevention measures on their own. The key to the program was the training of a cadre of trainers/advocates in all local Native American and Alaska Native communities served by the Indian Health Service. These people were then supported and assisted in their efforts through a variety of means. Evaluation results of knowledge gained indicate that the local trainers had substantial success in imparting FAS information to a variety of audiences (prenatal groups, school children and community groups). Further, the evaluation samples also indicate that the knowledge was retained by the groups over time (2-4 months) and that there may have been some general diffusion of knowledge among peers in local communities. This program is presented in the hope that it will be replicated and improved upon by similar programs using this model as a base.

An Exploration of the Cognitive, Physical and Psychosocial Development of Children with Apert Syndrome

ERIC Educational Resources Information Center

Hilton, Caroline

2017-01-01

Apert syndrome is a rare condition, with a birth prevalence of approximately one in 65,000. This article provides an up-to-date review of the literature on Apert syndrome from a variety of perspectives, ranging from surgical management to personal accounts. The purpose of the review is to provide a holistic description of the syndrome which should…

Floating-Harbor syndrome: description of a further patient, review of the literature, and suggestion of autosomal dominant inheritance.

PubMed

Lacombe, D; Patton, M A; Elleau, C; Battin, J

1995-08-01

The Floating-Harbor syndrome is a growth retardation syndrome with delayed bone age, speech development, and typical facial features. The face is triangular with deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips. We present an additional patient and review 16 cases from the literature. The possible phenotype in the patient's mother suggests a dominant mode of inheritance for the syndrome. The Floating Harbor syndrome is a growth deficiency syndrome characterized by proportionate short stature, characteristic face and delayed speech development. Inheritance is possibly autosomal dominant.

Bullous Complex Regional Pain Syndrome: A description of the clinical and histopathologic features.

PubMed

Ho, J D; Al-Haseni; Smith, S; Bhawan, J; Sahni, D

2018-04-27

Complex regional pain syndrome (CRPS, formerly reflex sympathetic dystrophy) is a poorly understood syndrome occurring most commonly after peripheral trauma.(1) Diagnostic features include pain, autonomic dysregulation, sensory/motor abnormalities and trophic changes involving the affected limb.(1,2) Dermatologic findings include erythema, atrophy, xerosis, erosive disease, and reticulated erythematous patches.(3,4) Exceptionally, blistering has been reported.(5-7) Given its rarity, the clinical and histopathologic findings of bullous CRPS are not well described. We report a case of bullous CRPS in a patient with mycosis fungoides (MF), describing the clinical and histopathologic features of this uncommon entity. This article is protected by copyright. All rights reserved.

Giant canine with dentine anomalies in oculo-facio-cardio-dental syndrome.

PubMed

Larhant, Matthieu; Sourice, Sophie; Grimaud, Fanny; Cordoba, Luis; Leveau, Sophie; Huet, Pascal; Corre, Pierre; Khonsari, Roman Hossein

2014-06-01

Radiculomegaly affecting incisors, canines or premolars is a rare radiological finding (Maden et al., 2010) but is pathognomomic of a rare x-linked dominant syndrome called oculo-facio-cardio-dental syndrome (OFCDS). As this syndrome includes cardiac malformations and can lead to blindness due to congenital glaucoma, oral and maxillofacial surgeons should be aware of the somatic anomalies potentially associated with radiculomegaly. We report a typical case of OFCDS and provide the first description of the microscopic dental anomalies associated with this syndrome. Copyright © 2013 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

Description of common musculoskeletal findings in Williams Syndrome and implications for therapies.

PubMed

Copes, L E; Pober, B R; Terilli, C A

2016-07-01

Williams syndrome (WS), also referred to as Williams-Beuren syndrome (WBS), is a relatively rare genetic disorder affecting ∼1/10,000 persons. Since the disorder is caused by a micro-deletion of ∼1.5 Mb, it is not surprising that the manifestations of WS are extremely broad, involving most body systems. In this paper, we primarily focus on the musculoskeletal aspects of WS as these findings have not been the subject of a comprehensive review. We review the MSK features commonly seen in individuals with WS, along with related sensory and neurological issues interacting with and compounding underlying MSK abnormalities. We end by providing perspective, particularly from the vantage point of a physical therapist, on therapeutic interventions to address the most common MSK and related features seen in WS. Clin. Anat. 29:578-589, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

22q11.2 deletion syndrome

PubMed Central

McDonald-McGinn, Donna M.; Sullivan, Kathleen E.; Marino, Bruno; Philip, Nicole; Swillen, Ann; Vorstman, Jacob A. S.; Zackai, Elaine H.; Emanuel, Beverly S.; Vermeesch, Joris R.; Morrow, Bernice E.; Scambler, Peter J.; Bassett, Anne S.

2016-01-01

22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder, estimated to result mainly from de novo non-homologous meiotic recombination events occurring in approximately 1 in every 1,000 fetuses. The first description in the English language of the constellation of findings now known to be due to this chromosomal difference was made in the 1960s in children with DiGeorge syndrome, who presented with the clinical triad of immunodeficiency, hypoparathyroidism and congenital heart disease. The syndrome is now known to have a heterogeneous presentation that includes multiple additional congenital anomalies and later-onset conditions, such as palatal, gastrointestinal and renal abnormalities, autoimmune disease, variable cognitive delays, behavioural phenotypes and psychiatric illness — all far extending the original description of DiGeorge syndrome. Management requires a multidisciplinary approach involving paediatrics, general medicine, surgery, psychiatry, psychology, interventional therapies (physical, occupational, speech, language and behavioural) and genetic counselling. Although common, lack of recognition of the condition and/or lack of familiarity with genetic testing methods, together with the wide variability of clinical presentation, delays diagnosis. Early diagnosis, preferably prenatally or neonatally, could improve outcomes, thus stressing the importance of universal screening. Equally important, 22q11.2DS has become a model for understanding rare and frequent congenital anomalies, medical conditions, psychiatric and developmental disorders, and may provide a platform to better understand these disorders while affording opportunities for translational strategies across the lifespan for both patients with 22q11.2DS and those with these associated features in the general population. PMID:27189754

Olfactory reference syndrome: issues for DSM-V.

PubMed

Feusner, Jamie D; Phillips, Katharine A; Stein, Dan J

2010-06-01

The published literature on olfactory reference syndrome (ORS) spans more than a century and provides consistent descriptions of its clinical features. The core symptom is preoccupation with the belief that one emits a foul or offensive body odor, which is not perceived by others. This syndrome is associated with substantial distress and disability. DSM-IV and ICD-10 do not explicitly mention ORS, but note convictions about emitting a foul body odor in their description of delusional disorder, somatic type. However, the fact that such symptoms can be nondelusional poses a diagnostic conundrum. Indeed, DSM-IV also mentions fears about the offensiveness of one's body odor in the social phobia text (as a symptom of taijin kyofusho). There also seems to be phenomenological overlap with body dysmorphic disorder, obsessive-compulsive disorder, and hypochondriasis. This article provides a focused review of the literature to address issues for DSM-V, including whether ORS should continue to be mentioned as an example of another disorder or should be included as a separate diagnosis. We present a number of options and preliminary recommendations for consideration for DSM-V. Because research is still very limited, it is unclear how ORS should best be classified. Nonetheless, classifying ORS as a type of delusional disorder seems problematic. Given this syndrome's consistent clinical description across cultures for more than a century, substantial morbidity and a small but growing research literature, we make the preliminary recommendation that ORS be included in DSM-Vs Appendix of Criteria Sets Provided for Further Study, and we suggest diagnostic criteria. (c) 2010 Wiley-Liss, Inc.

Fatal ovarian hyperstimulation syndrome in an anonymous egg donor.

PubMed

Pooniya, Shashank; Behera, C; Mridha, A R; Bhardwaj, D N; Millo, Tabin

2016-12-01

Ovarian hyperstimulation syndrome is a rare, but potentially life-threatening iatrogenic disorder arising from ovulation induction or ovarian hyperstimulation for assisted reproduction techniques. We report a case of a 26-year-old multiparous woman, an anonymous egg donor, who died a few hours after undergoing a procedure to donate eggs at an in vitro fertilization clinic. Her husband alleged that medical negligence had led to her death. The autopsy confirmed death due to ovarian hyperstimulation syndrome. We know of no previous descriptions of fatal ovarian hyperstimulation syndrome in an anonymous egg donor in medico-legal literature. © The Author(s) 2016.

[Difficulties in the diagnosis of diarrhea-associated hemolytic uremic syndrome in adults].

PubMed

Malov, V A; Maleev, V V; Kozlovskaya, N L; Tsvetkova, N A; Smetanina, S V; Gorobchenko, A N; Serova, V V; Chentsov, V B; Volkov, A G; Faller, A P

Hemolytic uremic syndrome (HUS) is a rare, but menacing condition registered mainly in children. The paper gives a detailed description and analysis of a clinical case of HUS with a favorable outcome in an adult woman who developed the syndrome in the presence of bloody diarrhea. It considers an update on the etiology, pathogenesis, and clinical features of HUS associated with diarrheal syndrome and discusses differential diagnostic features, diagnostic problems, and characteristics of management tactics for patients.

Les syndromes coronaires aigus à Dakar: aspects cliniques thérapeutiques et évolutifs

PubMed Central

Mboup, Mouhamed Cherif; Diao, Maboury; Dia, Khadidiatou; Fall, Pape Diadie

2014-01-01

Introduction Ce travail a pour objectifs d’étudier les aspects épidémiologiques et cliniques, les différentes modalités de prise en charge, et l’évolution des syndromes coronaires aigus à Dakar. Méthodes Il s'agit d'une étude prospective concernant une cohorte de patients hospitalisés au niveau des services de cardiologie de l'hôpital Principal de Dakar et de l'hôpital Aristide Le Dantec pour un syndrome coronaire aigu entre le 01 Septembre 2005 et le 31 Août 2006. Résultats Durant la période d’étude, 59 patients avaient présenté à l'admission un syndrome coronaire aigu, soit une prévalence hospitalière de 4,05%. L’âge moyen était de 57,1 ± 3,5 ans. L'indice moyen des facteurs de risque était de 3,56 ± 1,7. Quatre vingt onze pour cent (91%) des patients avaient au moins deux facteurs de risque cardio-vasculaires. Les délais moyens d'arrivée et de prise en charge étaient respectivement de 53,2 ± 21,3 heures et 3,4 ± 1 heures. L'analyse des tracés électrocardiographiques associée au dosage des troponines, avait permis de retenir les diagnostics d'infarctus du myocarde avec sus-décalage persistant du segment ST chez 89,8% patients, d'infarctus du myocarde sans sus-décalage du segment ST chez 5,1% patients, et d'angor instable dans 5,1% des cas. La mortalité hospitalière était de 15,25% et la mortalité à un mois de 18,64%. Conclusion Au Sénégal, les syndromes coronaires aigus sont caractérisés par un âge de survenue relativement jeune chez des patients polyfactoriels et une lourde mortalité. C'est dire tout l'intérêt d'une prévention primaire efficace par la lutte contre les facteurs de risque cardio-vasculaires. PMID:25745533

A study on phenomenology of Dhat syndrome in men in a general medical setting.

PubMed

Prakash, Sathya; Sharan, Pratap; Sood, Mamta

2016-01-01

"Dhat syndrome" is believed to be a culture-bound syndrome of the Indian subcontinent. Although many studies have been performed, many have methodological limitations and there is a lack of agreement in many areas. The aim is to study the phenomenology of "Dhat syndrome" in men and to explore the possibility of subtypes within this entity. It is a cross-sectional descriptive study conducted at a sex and marriage counseling clinic of a tertiary care teaching hospital in Northern India. An operational definition and assessment instrument for "Dhat syndrome" was developed after taking all concerned stakeholders into account and review of literature. It was applied on 100 patients along with socio-demographic profile, Hamilton Depression Rating Scale, Hamilton Anxiety Rating Scale, Mini International Neuropsychiatric Interview, and Postgraduate Institute Neuroticism Scale. For statistical analysis, descriptive statistics, group comparisons, and Pearson's product moment correlations were carried out. Factor analysis and cluster analysis were done to determine the factor structure and subtypes of "Dhat syndrome." A diagnostic and assessment instrument for "Dhat syndrome" has been developed and the phenomenology in 100 patients has been described. Both the health beliefs scale and associated symptoms scale demonstrated a three-factor structure. The patients with "Dhat syndrome" could be categorized into three clusters based on severity. There appears to be a significant agreement among various stakeholders on the phenomenology of "Dhat syndrome" although some differences exist. "Dhat syndrome" could be subtyped into three clusters based on severity.

Genetics Home Reference: autosomal recessive hyper-IgE syndrome

MedlinePlus

... collapse boxes. Description Autosomal recessive hyper-IgE syndrome (AR-HIES) is a disorder of the immune system. ... pus (abscesses), open sores, and scaling. People with AR-HIES also tend to have frequent bouts of ...

Delineating the Profile of Autism Spectrum Disorder Characteristics in Cornelia de Lange and Fragile X Syndromes

ERIC Educational Resources Information Center

Moss, Joanna; Oliver, Chris; Nelson, Lisa; Richards, Caroline; Hall, Scott

2013-01-01

An atypical presentation of autism spectrum disorder is noted in Cornelia de Lange and Fragile X syndromes, but there are few detailed empirical descriptions. Participants in this study were individuals with Cornelia de Lange syndrome (n = 130, M age = 17.19), Fragile X syndrome (n = 182, M age = 16.94), and autism spectrum disorder (n = 142, M…

Practitioner Review: Chronic Fatigue Syndrome in Childhood

ERIC Educational Resources Information Center

Garralda, M. Elena; Chalder, Trudie

2005-01-01

RBackground: Chronic fatigue syndrome (CFS) is being increasingly recognized in children and adolescents. Yet comparatively little attention has been given in the literature to management. Methods: Description of the main features of the disorder, precipitating and maintaining factors and diagnostic assessment. Outline of different views on the…

Popliteal Artery Entrapment or Chronic Exertional Compartment Syndrome?

PubMed Central

Gaunder, Christopher; Rivera, Jessica

2017-01-01

Diagnosis of lower limb pain in an athlete can be a challenging task due to the variety of potential etiologies and ambiguity of presenting symptoms. Five of the most commonly encountered causes of limb pain in athletes are chronic exertional compartment syndrome (CECS), medial tibial stress syndrome (MTSS), tibial stress fractures, soleal sling syndrome, and popliteal artery entrapment syndrome (PAES). Of these, the least frequent but potentially most serious of the pathologies is PAES. With an incidence of less than 1% seen in living subject studies, the condition is rare. However, a missed diagnosis will likely lead to progression of the disease and potential for unnecessary invasive procedures (McAree et al. 2008). In this paper, we present a young athlete misdiagnosed and treated for chronic exertional compartment syndrome. In both descriptive and a quick-reference table format, we review current literature and discuss how best to distinguish functional PAES from other causes of activity-related leg pain. PMID:28890727

Temporal evolution of acute respiratory distress syndrome definitions.

PubMed

Fioretto, José R; Carvalho, Werther B

2013-01-01

to review the evolution of acute respiratory distress syndrome (ARDS) definitions and present the current definition for the syndrome. a literature review and selection of the most relevant articles on ARDS definitions was performed using the MEDLINE®/PubMed® Resource Guide database (last ten years), in addition to including the most important articles (classic articles) that described the disease evolution. the review included the following subjects: introduction; importance of definition; description of the first diagnostic criterion and subsequently used definitions, such as acute lung injury score; definition by the American-European Consensus Conference, and its limitations; description of the definition by Delphi, and its problems; accuracy of the aforementioned definitions; description of most recent definition (the Berlin definition), and its limitations; and practical importance of the new definition. ARDS is a serious disease that remains an ongoing diagnostic and therapeutic challenge. The evolution of definitions used to describe the disease shows that studies are needed to validate the current definition, especially in pediatrics, where the data are very scarce. Copyright © 2013 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda. All rights reserved.

Prevalence of dry eye syndrome and Sjogren's syndrome in patients with rheumatoid arthritis.

PubMed

Kosrirukvongs, Panida; Ngowyutagon, Panotsom; Pusuwan, Pawana; Koolvisoot, Ajchara; Nilganuwong, Surasak

2012-04-01

Rheumatoid arthritis has manifestations in various organs including ophthalmic involvement. The present study evaluates prevalence of dry eye and secondary Sjogren's syndrome using salivary scintigraphy which has not been used in previous reports. To evaluate the prevalence of secondary Sjogren's syndrome in patients with rheumatoid arthritis, including clinical characteristics and dry eye, compared with non-Sjogren's syndrome. Descriptive cross sectional study Sixty-one patients with rheumatoid arthritis were recruited at Siriraj Hospital during March 2009-September 2010 and filled in the questionnaires about dry eye for Ocular Surface Disease Index (OSDI) with a history taking of associated diseases, medications, duration of symptoms of dry eyes and dry mouth. The Schirmer I test without anesthesia, tear break-up time, rose bengal staining score, severity of keratitis and salivary scintigraphy were measured and analyzed. Prevalence of secondary Sjogren's syndrome and dry eye were 22.2% (95% CI 15.4 to 30.9) and 46.7% (95% CI 38.0 to 55.6), respectively. Dry eye interpreted from OSDI, Schirmer 1 test, tear break-up time and rose bengal staining was 16.4%, 46.7%, 82% and 3.3% respectively. Fifty-two percent of patients had a history of dry eye and dry mouth with mean duration 27.4 and 29.8 months, respectively. Superficial punctate keratitis and abnormal salivary scintigraphy were found in 58.2% and 77.8%. Duration of rheumatoid arthritis, erythrocyte sedimentation rate were not correlated with secondary Sjogren's syndrome. Dry eye from OSDI with secondary Sjogren's syndrome (33.3%) compared with non-Sjogren's syndrome (9.5%) was significant difference (p = 0.008). Adjusted odds ratio for secondary Sjogren's syndrome in OSDIL score > 25 was 13.8 (95% CI 2.6 to 73.8, p = 0.002) compared to OSDI score < 25. Awareness and detection of dry eye syndrome and secondary Sjogren's syndrome in rheumatoid arthritis was crucial for evaluation of their severity and proper

The otolaryngologic manifestations of Sotos syndrome.

PubMed

Gaudreau, Philip; Zizak, Vincent; Gallagher, Thomas Q

2013-11-01

Soto's syndrome is a genetic disorder caused by mutations in the NSD1 gene. It is characterized by excessive growth in early life. It features craniofacial abnormalities, developmental delay, hypotonia and advanced bone age. A review of the current literature reveals only chronic otitis media and conductive hearing loss as otolaryngologic manifestations of Soto's syndrome. Our objective was to determine if there are additional manifestations relevant to the otolaryngologist. We performed a retrospective case series in which the Department of Defense electronic medical record was searched for ICD 9 code 253.0 (acromegaly/gigantism). Records were reviewed for genetic testing indicative of Soto's syndrome. These records were further analyzed for evidence of otolaryngologic problems. Seventeen patients were identified with five having confirmed NSD1 mutations consistent with Soto's syndrome. Of these, 4/5 had otolaryngologic problems such as conductive hearing loss, aspiration, laryngomalacia, obstructive sleep apnea and sensorineural hearing loss. Currently there is no description in the literature of these additional manifestations of Soto's syndrome. We present this case series to support the idea that an otolaryngologist should be involved in the multidisciplinary care required for these patients. Published by Elsevier Ireland Ltd.

[Clinical study of area of Jiangsu province of polycystic ovarian syndrome correlation distribution of traditional Chinese medicine syndrome type and improper diet].

PubMed

Feng, Yu; Gao, Yue-Ping

2014-05-01

Polycystic ovary syndrome (PCOS) is one of the most popular diseases in obstetrics and gynecology research at internal and abroad at present, traditional Chinese medicine(TCM)in the clinical treatment of the disease have the advantage. Clinical epidemiological study of descriptive research method this research adopts investigation, observation of TCM syndromes and improper diet through 401 cases in Jiangsu Province confirmed PCOS patients, to explore the relationship between TCM syndrome type distribution and improper diet factors, and to provide the clinical basis for further etiology of this disease research. TCM syndrome type distribution of the disease is kidney deficiency, phlegm stagnation syndrome, qi stagnation and blood stasis syndrome, syndrome of dampness heat of liver channel and is composed of 4 basic syndromes and formed complex syndrome, and the composite and syndrome type (60.85%); combined with the analysis of traditional Chinese medicine dialectical, Pure empirical syndrome this disease (46.88%), followed by the actual card (45.39%), pure deficiency is rare. Improper diet factors associated with the disease, in which improper diet with different TCM syndrome type distribution significantly related. Stagnation of phlegm dampness syndrome is the main syndrome of the disease type, improper diet factors and every syndrome PCOS type distribution is as follows: the partial eclipse fatness greasy with basic syndromes of phlegm dampness stagnation of kidney deficiency syndrome, the nephrasthenia syndrome is less; eating spicy stimulation by basic syndromes of stagnation of Qi and blood stasis; eating cold people the basic certificate type of qi stagnation and blood stasis; The diet of patients are more prone to stagnation of phlegm dampness syndrome.

Down Syndrome: General Information. Fact Sheet Number 4 = El Sindrome de Down: Informacion General. Fact Sheet Number 15.

ERIC Educational Resources Information Center

Interstate Research Associates, McLean, VA.

This fact sheet on Down Syndrome is offered in both English and Spanish. First it provides a definition and description of this syndrome, noting its etiology in a chromosomal abnormality. Incidence figures are then given. Typical characteristics of people with Down Syndrome are listed. Commonly associated health-related problems are noted,…

Guillain-Barré syndrome: 100 years on.

PubMed

Créange, A

2016-12-01

The Guillain-Barré syndrome is associated with acute polyradiculoneuritis for almost one century. Its spectrum has considerably been enlarged since its first description. It now includes pure motor or sensory syndromes, focal forms, demyelinating and axonal neurophysiological features that characterise excitability dysfunctions, and immunological differentiations. We can hope that this improved classification will facilitate development of treatment innovations for a condition that is still a life-threatening condition with a severe functional prognosis in a significant proportion of cases. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

3-methylglutaconic aciduria type 4 manifesting as Leigh syndrome in 2 siblings.

PubMed

Jareño, Nuria Muñoz; Fernández-Mayoralas, Daniel Martín; Silvestre, Celia Pérez-Cerdá; Cortés, Begoña Merinero; Pérez, Magdalena Ugarte; Campos-Castelló, Jaime

2007-02-01

The authors report the case of a pair of siblings with 3-methylglutaconic aciduria type 4 manifesting as Leigh syndrome. Disease progression was monitored from birth until the present. Both patients fulfilled the diagnostic criteria for Leigh syndrome along with increased urinary excretion of 3-methylglutaconic acid and 3-methylglutaric acid (biochemical markers of methylglutaric acid) in several determinations. No mitochondrial respiratory chain defects in muscle biopsy were detected. Although mitochondrial abnormalities are the most common known cause of Leigh syndrome, there have been several reports of links with nonmitochondrial metabolic disorders. Descriptions of 3-methylglutaric acid type 4 associated with Leigh syndrome are rare.

Developing syndrome definitions based on consensus and current use.

PubMed

Chapman, Wendy W; Dowling, John N; Baer, Atar; Buckeridge, David L; Cochrane, Dennis; Conway, Michael A; Elkin, Peter; Espino, Jeremy; Gunn, Julia E; Hales, Craig M; Hutwagner, Lori; Keller, Mikaela; Larson, Catherine; Noe, Rebecca; Okhmatovskaia, Anya; Olson, Karen; Paladini, Marc; Scholer, Matthew; Sniegoski, Carol; Thompson, David; Lober, Bill

2010-01-01

Standardized surveillance syndromes do not exist but would facilitate sharing data among surveillance systems and comparing the accuracy of existing systems. The objective of this study was to create reference syndrome definitions from a consensus of investigators who currently have or are building syndromic surveillance systems. Clinical condition-syndrome pairs were catalogued for 10 surveillance systems across the United States and the representatives of these systems were brought together for a workshop to discuss consensus syndrome definitions. Consensus syndrome definitions were generated for the four syndromes monitored by the majority of the 10 participating surveillance systems: Respiratory, gastrointestinal, constitutional, and influenza-like illness (ILI). An important element in coming to consensus quickly was the development of a sensitive and specific definition for respiratory and gastrointestinal syndromes. After the workshop, the definitions were refined and supplemented with keywords and regular expressions, the keywords were mapped to standard vocabularies, and a web ontology language (OWL) ontology was created. The consensus definitions have not yet been validated through implementation. The consensus definitions provide an explicit description of the current state-of-the-art syndromes used in automated surveillance, which can subsequently be systematically evaluated against real data to improve the definitions. The method for creating consensus definitions could be applied to other domains that have diverse existing definitions.

Anomalies of vertebrae and ribs: Jarcho Levin syndrome. Description of a case and literature review.

PubMed

Vázquez-López, María E; López-Conde, María I; Somoza-Rubio, Carlos; Pérez-Pacín, Roberto; Morales-Redondo, Ramón; González-Gay, Miguel A

2005-05-01

Jarcho Levin syndrome is a congenital disorder characterized by the presence of rib and vertebral defects at birth. This syndrome is usually diagnosed in newborns with short neck and trunk and short stature. They present multiple vertebral anomalies at different levels of the spine, including "butterfly vertebrae", hemivertebrae and fused hypoplastic vertebrae. The small size of the thorax in newborns frequently leads to respiratory compromise and death in infancy. We report a new case with short trunk and neck and vertebral and costal anomalies without respiratory problems. A literature review was conducted.

[Network clusters of symptoms as elementary syndromes of psychopathology: implications for clinical practice].

PubMed

Goekoop, R; Goekoop, J G

2016-01-01

In a recent publication we reported the existence of around 11 (to 15) 'elementary syndromes' that may combine in various ways, rather like 'building blocks', to explain the wide range of psychiatric symptoms. 'Bridge symptoms' seem to be responsible both for combining large sets of symptoms into elementary syndromes and for combining the various elementary syndromes to form one globally connected network structure. To discuss the implication of these findings for clinical practice. We performed a network analysis of symptom scores. Elementary syndromes provide a massive simplification of the description of psychiatric disease. Instead of the more than 300 categories in DSM-5, we now need to consider only a handful of elementary syndromes and personality domains. This modular representation of psychiatric illnesses allows us to make a complete, systematic and efficient assessment of patients and a systematic review of treatment options. Clinicians, patients, managerial staff and insurance companies can verify whether symptom reduction is taking place in the most important domains of psychopathology. Unlike classic multidimensional methods of disease description, network models of psychopathology can be used to explain comorbidity patterns, predict the clinical course of psychopathology and to designate primary targets for therapeutic interventions. A network view on psychopathology could significantly improve everyday clinical practice.

Studies of malformation syndromes in man XXXX: multiple congenital anomalies/mental retardation syndrome or variant familial developmental pattern; differential diagnosis and description of the McDonough syndrome (with XXY son from XY/XXY father).

PubMed

Neuhäuser, G; Opitz, J M

1975-11-13

The McDonough syndrome is a "new" MCA/MR syndrome which was found in 3 children (1 girl, 2 boys) of non-consanguineous parents. The affected children were mentally retarded (IQ 47--67) and had congenital heart defect, sternal deformity, kyphosis and craniofacila anomalies (anteverted auricles, upward slanted palpebral fissures, squint); cryptorchidism was present in the 2 boys. In addition a possible VFDP is postulated as the explanation for similar features in affected and unaffected siblings and parents. However, the McDonough syndrome may be an autosomal recessive trait with minor manifestations in heterozygotes. The klinefelter syndrome in one affected boy and a 46,XY/47,XXY chromosome constitution in the father was a coincidental finding.

Diabetes mellitus in children and adolescents with genetic syndromes.

PubMed

Schmidt, F; Kapellen, T M; Wiegand, S; Herbst, A; Wolf, J; Fröhlich-Reiterer, E E; Rabl, W; Rohrer, T R; Holl, R W

2012-11-01

Several genetic syndromes are associated with diabetes mellitus (DM). This study aimed to analyse data from the DPV database with regard to frequency, treatment strategies and long-term complications in paediatric DM patients with genetic syndromes, including Turner syndrome (TS), Prader-Willi syndrome (PWS), Friedreich ataxia (FA), Alström syndrome (AS), Klinefelter syndrome (KS), Bardet-Biedl syndrome (BBS), Berardinelli-Seip syndrome (BSS) and Down syndrome (DS). Longitudinal data for 43 521 patients with DM onset at age < 20 years were collected from 309 treatment centres in Germany and Austria using the DPV software. Data included anthropometric parameters, type of diabetes, mean age, age at diabetes onset, daily insulin dose, HbA 1c , micro- and macroalbuminuria, retinopathy and dyslipidaemia. Descriptive statistics and standard statistical tests were used for data analysis. In total, 205 DM patients had one of the following syndromes: DS (141 patients), TS (24), PWS (23), FA (5), AS (5), KS (4), BBS (2) and BSS (1). Diabetes-specific antibodies were positive in the majority of patients with DS, TS and FA. Despite the well-known association between DM and certain syndromic disorders, the number of affected patients in the German and Austrian paediatric diabetic population is very low. Nevertheless, physicians should be aware of syndromic forms of diabetes. Joint multicentre analyses are needed to draw relevant conclusions. © J. A. Barth Verlag in Georg Thieme Verlag KG Stuttgart · New York.

Brief Report: Parental Descriptions of Sleep Problems in Children with Autism, Down Syndrome, and Prader-Willi Syndrome

ERIC Educational Resources Information Center

Cotton, Sue; Richdale, Amanda

2006-01-01

Children with an intellectual disability (ID) are at high risk of developing sleep problems. The extent to which the prevalence and nature of sleep problems in these children is dependent on the disorder underlying their intellectual impairments remains unclear. This study examined and compared parental descriptions of sleep problems in children…

Camus's L'étranger and the first description of a man with Asperger's syndrome.

PubMed

Shuster, Sam

2018-01-01

The continued discussion about the meaning of Camus's famous novel, L'étranger , provoked a re-reading, and this, in turn, led to its clinical analysis and further investigation. The book rests entirely on the thoughts, words and actions of its central character, Meursault, and these were found to show impairment of social relationships, communication and interaction, with other traits diagnostic of the Asperger's subgroup of the autism spectrum disorder. It was then found that Camus had based Meursault on his close friend Galindo, and a search was therefore made for evidence of Galindo's character; this revealed him to be an intelligent but odd person, who exhibited the characteristic impairment of social and personal behavior of Asperger's syndrome. Thus, Camus had recognized and understood his friend's strange behavior before Asperger's syndrome had been defined; his use of it for the creation of Meursault is therefore the first published account of a man with this disorder. Many of the interpretations and ideas developed from Meursault's words, thoughts and actions must now be reconsidered, as they are a misreading of the words and behavior of a man with Asperger's syndrome. The outcome of this clinical examination of L'étranger is unique; it shows that a precise account of a person with a neurobehavioral disorder was made by a novelist before the disorder had been clinically defined.

Cancer Surveillance in Gorlin Syndrome and Rhabdoid Tumor Predisposition Syndrome.

PubMed

Foulkes, William D; Kamihara, Junne; Evans, D Gareth R; Brugières, Laurence; Bourdeaut, Franck; Molenaar, Jan J; Walsh, Michael F; Brodeur, Garrett M; Diller, Lisa

2017-06-15

Gorlin syndrome and rhabdoid tumor predisposition syndrome (RTPS) are autosomal dominant syndromes associated with an increased risk of childhood-onset brain tumors. Individuals with Gorlin syndrome can manifest a wide range of phenotypic abnormalities, with about 5% of family members developing medulloblastoma, usually occurring in the first 3 years of life. Gorlin syndrome is associated with germline mutations in components of the Sonic Hedgehog pathway, including Patched1 ( PTCH1) and Suppressor of fused ( SUFU) SUFU mutation carriers appear to have an especially high risk of early-onset medulloblastoma. Surveillance MRI in the first years of life in SUFU mutation carriers is, therefore, recommended. Given the risk of basal cell carcinomas, regular dermatologic examinations and sun protection are also recommended. Rhabdoid tumors (RT) are tumors initially defined by the descriptive "rhabdoid" term, implying a phenotypic similarity with rhabdomyoblasts at the microscopic level. RTs usually present before the age of 3 and can arise within the cranium as atypical teratoid/rhabdoid tumors or extracranially, especially in the kidney, as malignant rhabdoid tumors. However, RTs of both types share germline and somatic mutations in SMARCB1 or, more rarely, SMARCA4 , each of which encodes a chromatin remodeling family member. SMARCA4 mutations are particularly associated with small cell carcinoma of the ovary, hypercalcemic type (SCCOHT). The outcome following a diagnosis of any of these tumors is often poor, and the value of surveillance is unknown. International efforts to determine surveillance protocols are underway, and preliminary recommendations are made for carriers of SMARCB1 and SMARCA4 mutations. Clin Cancer Res; 23(12); e62-e67. ©2017 AACR See all articles in the online-only CCR Pediatric Oncology Series. ©2017 American Association for Cancer Research.

Exercise beliefs and behaviours of individuals with Joint Hypermobility syndrome/Ehlers-Danlos syndrome - hypermobility type.

PubMed

Simmonds, Jane V; Herbland, Anthony; Hakim, Alan; Ninis, Nelly; Lever, William; Aziz, Qasim; Cairns, Mindy

2017-11-10

To explore exercise beliefs and behaviours of individuals with Joint Hypermobility syndrome/Ehlers-Danlos syndrome - hypermobility type and to explore patient experiences of physiotherapy. A cross sectional questionnaire survey design was used to collect quantitative and qualitative data from adult members of the Hypermobility Syndromes Association and Ehlers-Danlos Syndrome Support UK. Descriptive and inferential statistics were used to analyse the data. Qualitative data was analysed thematically. 946 questionnaires were returned and analysed. Participants who received exercise advice from a physiotherapist were 1.75 more likely to report high volumes of weekly exercise (odds ratio [OR] = 1.75, 95% confidence interval [CI] = 1.30-2.36, p < 0.001) than those with no advice. Participants who believed that exercise is important for long-term management were 2.76 times more likely to report a high volume of weekly exercise compared to the participants who did not hold this belief (OR = 2.76, 95% CI = 1.38-5.50, p = 0.004). Three themes emerged regarding experience of physiotherapy; physiotherapist as a partner, communication - knowledge, experience and safety. Pain, fatigue and fear are common barriers to exercise. Advice from a physiotherapist and beliefs about the benefits of exercise influenced the reported exercise behaviours of individuals with Ehlers-Danlos syndrome - hypermobility type in this survey. Implications for rehabilitation Exercise is a cornerstone of treatment for Ehlers-Danlos syndrome/Ehlers-Danlos syndrome - hypermobility type. Pain, fatigue and fear of injury are frequently reported barriers to exercise. Advice from physiotherapists may significantly influence exercise behaviour. Physiotherapists with condition specific knowledge and good verbal and non-verbal communication facilitate a positive therapeutic experience.

Placental expression of anti-angiogenic proteins in mirror syndrome: a case report.

PubMed

Graham, N; Garrod, A; Bullen, P; Heazell, A E P

2012-06-01

Mirror syndrome is a rare disorder in which fetal hydrops is associated with maternal oedema, proteinuria and hypertension. The aetiology of the maternal condition is unknown, but it is thought to be related to preeclampsia. Few descriptions exist of placental morphology in mirror syndrome, but placentomegaly is consistently observed. In this case placental morphology showed villous oedema and syncytial nuclear aggregates where villi were in direct contact. Immunoperoxidase staining for VEGFR1 and Endoglin was more intense in mirror syndrome compared to gestational-age matched controls,and at a similar level to a case of preeclampsia. Placentally-derived anti-angiogenic factors may be involved in the pathogenesis of mirror syndrome. Copyright © 2012 Elsevier Ltd. All rights reserved.

[RS3PE syndrome: report of 11 cases].

PubMed

Bruscas Izu, C; Medrano San Ildefonso, M; Simon, L

2000-09-01

The RS3P syndrome or remitting seronegative symmetrical synovitis with pitting oedema, was described in 1985 by McCarty. The description refers to a rheumatologic set of symptoms with an acute commence, with no erosive lesions, with seronegativity, affecting more frequently to elderly males and showing an excellent prognosis. These characteristics make it possible to difference from the rheumatoid arthritis and from the rheumatic polymyalgia. We present eleven cases which confirm the good prognosis already described, but we suggest the possibility of this syndrome could be a manifestation or the beginning of other possible diseases.

Developing syndrome definitions based on consensus and current use

PubMed Central

Dowling, John N; Baer, Atar; Buckeridge, David L; Cochrane, Dennis; Conway, Michael A; Elkin, Peter; Espino, Jeremy; Gunn, Julia E; Hales, Craig M; Hutwagner, Lori; Keller, Mikaela; Larson, Catherine; Noe, Rebecca; Okhmatovskaia, Anya; Olson, Karen; Paladini, Marc; Scholer, Matthew; Sniegoski, Carol; Thompson, David; Lober, Bill

2010-01-01

Objective Standardized surveillance syndromes do not exist but would facilitate sharing data among surveillance systems and comparing the accuracy of existing systems. The objective of this study was to create reference syndrome definitions from a consensus of investigators who currently have or are building syndromic surveillance systems. Design Clinical condition–syndrome pairs were catalogued for 10 surveillance systems across the United States and the representatives of these systems were brought together for a workshop to discuss consensus syndrome definitions. Results Consensus syndrome definitions were generated for the four syndromes monitored by the majority of the 10 participating surveillance systems: Respiratory, gastrointestinal, constitutional, and influenza-like illness (ILI). An important element in coming to consensus quickly was the development of a sensitive and specific definition for respiratory and gastrointestinal syndromes. After the workshop, the definitions were refined and supplemented with keywords and regular expressions, the keywords were mapped to standard vocabularies, and a web ontology language (OWL) ontology was created. Limitations The consensus definitions have not yet been validated through implementation. Conclusion The consensus definitions provide an explicit description of the current state-of-the-art syndromes used in automated surveillance, which can subsequently be systematically evaluated against real data to improve the definitions. The method for creating consensus definitions could be applied to other domains that have diverse existing definitions. PMID:20819870

Growing skull hemangioma: first and unique description in a patient with Klippel-Trénaunay-Weber syndrome.

PubMed

van der Loo, Lars E; Beckervordersandforth, Jan; Colon, Albert J; Schijns, Olaf E M G

2017-02-01

We present the first and unique case of a rapid-growing skull hemangioma in a patient with Klippel-Trénaunay-Weber syndrome. This case report provides evidence that not all rapid-growing, osteolytic skull lesions need to have a malignant character but certainly need a histopathological verification. This material offers insight into the list of rare pathological diagnoses in an infrequent syndrome.

Obesity as a Presentation of Munchausen Syndrome by Proxy.

PubMed

Nogueira-de-Almeida, Carlos Alberto; de Almeida, Carla Cristina J N; Pereira, Natália Inocêncio; de Souza Filho, Nilton Antonio; de Oliveira, Valmir Aparecido

2018-02-01

To describe a case of an obese child whose weight gain was related to the Munchausen Syndrome by proxy (MSP). This is a case report including information regarding the child's clinical history and the mother's behavior. The common features of the syndrome are confronted with the description of the case, seeking to demonstrate the similarities. The description ratifies the diagnosis based on the signs and symptoms presented by the child (<5 years old, frequent contacts with health system, symptoms witnessed only by the mother, confusing findings, not helped by treatments, emotionally distant father) and the attitude of the mother (concerned, interested in procedures, comfortable in the medical setting, higher medical knowledge, hostile when thwarted). The case presented points to a new etiology, the MSP, to be considered within the set of factors currently known to cause and maintain obesity in childhood. © The Author [2017]. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com

Measuring Use and Cost of Health Sector and Related Care in a Population of Girls and Young Women with Rett Syndrome

ERIC Educational Resources Information Center

Hendrie, Delia; Bebbington, Ami; Bower, Carol; Leonard, Helen

2011-01-01

This study measured use and cost of health sector and related services in Rett syndrome and effects of socio-demographic, clinical severity and genetic factors on costs. The study population consisted of individuals with Rett syndrome registered with the Australian Rett Syndrome Database in 2004. Descriptive analysis was used to examine patterns…

Preventing the aortic complications of Marfan syndrome: a case-example of translational genomic medicine

PubMed Central

Li-Wan-Po, Alain; Loeys, Bart; Farndon, Peter; Latham, David; Bradley, Caroline

2011-01-01

The translational path from pharmacological insight to effective therapy can be a long one. We aim to describe the management of Marfan syndrome as a case-example of how pharmacological and genomic insights can contribute to improved therapy. We undertook a literature search for studies of Marfan syndrome, to identify milestones in description, understanding and therapy of the syndrome. From the studies retrieved we then weaved an evidence-based description of progress. Marfan syndrome shows considerable heterogeneity in clinical presentation. It relies on defined clinical criteria with confirmation based on FBN1 mutation testing. Surgical advances have prolonged life in Marfan syndrome. First-line prophylaxis of complications with β-adrenoceptor blockers became established on the basis that reduction of aortic pressure and heart rate would help. Over-activity of proteinases, first suggested in 1980, has since been confirmed by evidence of over-expression of matrix metalloproteinases (MMP), notably MMP-2 and MMP-9. The search for MMP inhibitors led to the evaluation of doxycycline, and both animal studies and small trials, provided early evidence that this widely used antimicrobial agent was useful. Identification of the importance of TGF-β led to evaluation of angiotensin II type I receptor (AT1R) blockers with highly promising results. Combination prophylactic therapy would appear rational. Pharmacological and genomic research has provided good evidence that therapy with losartan and doxycycline would prevent the aortic complications of Marfan syndrome. If on-going well designed trials confirm their efficacy, the outlook for Marfan syndrome patients would be improved considerably. PMID:21276043

Bartsocas-papas syndrome: unusual findings in the first reported egyptian family.

PubMed

Abdalla, E M; Morsy, H

2011-01-01

Bartsocas-Papas syndrome (BPS) is an autosomal recessive syndrome with severe craniofacial, limb, and genital abnormalities. As of 2011, 24 published cases and families were registered in the Orphanet Report Series. Compared to other disorders characterized by pterygia, the condition is usually more severe and often lethal: most affected patients die in utero or shortly after birth. We report the first Egyptian family with Bartsocas-Papas syndrome comprising three cases; our proband who was a female infant with severe craniofacial and limb anomalies typical of Bartsocas-Papas syndrome, a similarly affected female fetus which died in utero at the 7th gestational month, and a 16-year-old mentally retarded uncle who presented with some of the typical features of Bartsocas-Papas syndrome, including syndactyly, thumb hypoplasia, and microphthalmia. This male patient actually did not present with pterygia, however, we find his clinical description noteworthy.

Munchausen Syndrome and the Wide Spectrum of Factitious Disorders.

PubMed

Tatu, Laurent; Aybek, Selma; Bogousslavsky, Julien

2018-01-01

Since its initial description in 1851, Munchausen syndrome has been widely used interchangeably with factitious disorder. Nevertheless, this syndrome is only one form of factitious disorder that is both severe and chronic. The syndrome was named after Karl Friedrich Hieronymus, Baron von Münchhausen (1720-1797), a German nobleman who became famous as a narrator of false and exaggerated exploits. His name was progressively corrupted to Munchausen. Factitious disorders and Munchausen syndrome remain a great diagnosis challenge for physicians. All medical specialities are concerned by these disorders. The diagnosis process involves a first step to exclude an unusual presentation of a common medical condition. The second step consists of excluding somatoform disorders and malingering. Unfortunately, the boundaries between factitious disorder, somatization, and malingering are often unclear. In 1977, the term "Munchausen's syndrome by proxy" was coined to define a situation where a person produces false symptoms in another one, especially a child. This term was extended to similar interactions between human and pets. Because varied conditions have been included in the definition of this syndrome, there is ongoing debate about alternative names. © 2018 S. Karger AG, Basel.

Kounis syndrome: A concise review with focus on management.

PubMed

Fassio, Filippo; Losappio, Laura; Antolin-Amerigo, Dario; Peveri, Silvia; Pala, Gianni; Preziosi, Donatella; Massaro, Ilaria; Giuliani, Gabriele; Gasperini, Chiara; Caminati, Marco; Heffler, Enrico

2016-05-01

Kounis syndrome is defined as the co-incidental occurrence of an acute coronary syndrome with hypersensitivity reactions following an allergenic event and was first described by Kounis and Zavras in 1991 as an allergic angina syndrome. Multiple causes have been described and most of the data in the literature are derived from the description of clinical cases - mostly in adult patients - and the pathophysiology remains only partly explained. Three different variants of Kounis syndrome have been defined: type I (without coronary disease) is defined as chest pain during an acute allergic reaction in patients without risk factors or coronary lesions in which the allergic event induces coronary spasm that electrocardiographic changes secondary to ischemia; type II (with coronary disease) includes patients with pre-existing atheromatous disease, either previously quiescent or symptomatic, in whom acute hypersensitive reactions cause plaque erosion or rupture, culminating in acute myocardial infarction; more recently a type-III variant of Kounis syndrome has been defined in patients with preexisting coronary disease and drug eluting coronary stent thrombosis. The pathogenesis of the syndrome is discussed, and a therapeutic algorithm is proposed. Copyright © 2015 European Federation of Internal Medicine. Published by Elsevier B.V. All rights reserved.

Alice in Wonderland syndrome

PubMed Central

2016-01-01

Abstract Purpose of review: To summarize the literature on Alice in Wonderland syndrome (AIWS), a disorder characterized by distortions of visual perception, the body schema, and the experience of time. Recent findings: On the basis of 169 published case descriptions, the etiology of AIWS is divided into 8 main groups, with neurologic disorders affecting mostly adults and elderly patients and encephalitides affecting mostly patients aged ≤18 years. Symptoms of AIWS are also experienced in the general population, with up to 30% of adolescents reporting nonclinical symptoms. Summary: In clinical cases of AIWS, auxiliary investigations (including blood tests, EEG, and brain MRI) are strongly advised. Treatment should be directed at the suspected underlying condition, although reassurance that the symptoms themselves are not harmful seems to suffice in about 50% of the cases. International classifications such as the DSM and ICD should consider placing the syndrome on their research agenda. PMID:27347442

Burnout syndrome in first to sixth-year medical students at a private university in the north of Mexico: descriptive cross-sectional study.

PubMed

Asencio-López, Laura; Almaraz-Celis, Guillermo Daniel; Carrillo Maciel, Vicente; Huerta Valenzuela, Paola; Silva Goytia, Luis; Muñoz Torres, Marcos; Monroy Caballero, Fernando; Regalado Tapia, Joel; Dipp Martin, Kerigma; López Miranda, Dinorah; Medina Lavenant, Clyvia; Pizarro Rodríguez, Karen; Santiago Martínez, Cesar; Saucedo Aparicio, Alma Geovanna; Flores Lepe, Rodolfo

2016-04-25

Burnout syndrome is a three-dimensional clinical syndrome caused by stress at work. It is frequent in professions which require direct contact with people. In Mexico, the presence of Burnout Syndrome in doctors and medical students, is characterized as a threat to their health, quality of life and professional performance. To evaluate the prevalence of burnout syndrome in students of years 1 through 6 of medical school at a private university in northern Mexico. Cross-sectional study in the Escuela de Medicina Campus Laguna de la Universidad Autónoma de Durango. The one-dimensional scale of Burnout Student (EUBE) and the Maslach Burnout Inventory (MBI) were applied to the participants. SPSS 19 was used to analyze the data. Of the 344 students, 255 participated; 153 from years 1 to 3 (group 1); and 72 from years 4 to 6 (group 2). We found that 94.1% of the students of group 1 had mild burnout syndrome, and 2.8% had moderate burnout syndrome. In Group 2, 27.8% had moderate burnout syndrome, and 8.3% had severe burnout syndrome. The prevalence of severe burnout syndrome was higher in group 2 than in group 1 (p=0.02). Burnout syndrome affects medical students across all stages of their studies, and develops in a progressive way. In our study, external factors have no influence on the development of burnout syndrome.

The new Wolf-Hirschhorn syndrome critical region (WHSCR-2): a description of a second case.

PubMed

Rodríguez, Laura; Zollino, Marcella; Climent, Salvador; Mansilla, Elena; López-Grondona, Fermina; Martínez-Fernández, María Luisa; Murdolo, Marina; Martínez-Frías, María Luisa

2005-07-15

The Wolf-Hirschhorn syndrome (WHS), is a well known contiguous gene syndrome characterized by microcephaly, hypertelorism, prominent glabella, epicanthal folds, cleft lip or palate, cardiac defects, growth and mental retardation and seizures. The currently accepted WHS critical region (WHSCR) is localized between the loci D4S166 and D4S3327, where a deletion seems to generate all the clinical manifestations of the syndrome. Here we present a patient with a subtelomeric deletion of 4p16.3 showing growth and psychomotor delay with a typical WHS facial appearance and two episodes of seizures in conjunction with fever. The high-resolution G-banded karyotype was normal. Fluorescence in situ hybridization (FISH) with a set of cosmids from 4p16.3, showed that the deletion in this patient was from the D4S3327 to the telomere, enabling the size of the deletion to be estimated as 1.9 Mb, excluding the accepted WHSCR deletion. This patient supports the recent proposal by Zollino et al. [2003] that the critical region for WHS is located distally to the WHSCR between the loci D4S3327 and D4S98-D4S16, and it is called "WHSCR-2" [Zollino et al., 2003]. Copyright 2005 Wiley-Liss, Inc.

Pain control methods in use and perceived effectiveness by patients with Ehlers-Danlos syndrome: a descriptive study.

PubMed

Arthur, Karen; Caldwell, Karen; Forehand, Samantha; Davis, Keith

2016-01-01

The purpose of this study was to assess the pain control methods in use by patients who have Ehlers-Danlos Syndrome (EDS), a group of connective tissue disorders, and their perceived effectiveness. This descriptive study involved 1179 adults diagnosed with EDS who completed an anonymous on-line survey. The survey consisted of demographics information, the Patient Reported Outcomes Measurement Information System (PROMIS) Pain-Behavior, PROMIS Pain-Interference, and Neuro QOL Satisfaction with Social Roles and Activities scales, as well as a modified version of the Pain Management Strategies Survey. Respondents reported having to seek out confirmation of their EDS diagnosis with multiple healthcare providers, which implies the difficulty many people with EDS face when trying to gain access to appropriate treatment. Patients with EDS experience higher levels of pain interference and lower satisfaction with social roles and activities compared to national norms. Among the treatment modalities in this study, those perceived as most helpful for acute pain control were opioids, surgical interventions, splints and braces, avoidance of potentially dangerous activities and heat therapy. Chronic pain treatments rated as most helpful were opioids, splints or braces and surgical interventions. For methods used for both acute and chronic pain, those perceived as most helpful were opioids, massage therapies, splints or braces, heat therapy and avoiding potentially dangerous activities. EDS is a complex, multi-systemic condition that can be difficult to diagnose and poses challenges for healthcare practitioners who engage with EDS patients in holistic care. Improved healthcare provider knowledge of EDS is needed, and additional research on the co-occurring diagnoses with EDS may assist in comprehensive pain management for EDS patients. Ehlers-Danlos Syndrome (EDS) is a group of connective tissue disorders associated with defective production of collagen, which can dramatically

Prevalence of metabolic syndrome and cardiovascular risk level in a vulnerable population.

PubMed

Kim, Chun-Ja; Park, JeeWon; Kang, Se-Won

2015-04-01

This study examined the prevalence of metabolic syndrome and the risk level of cardiovascular disease (CVD) in a vulnerable population of 407 subjects in Korea. This descriptive study was a part of the Tailed Health Visiting Service Program, using baseline data from public health centres in Suwon, Korea. The definition of metabolic syndrome was based on the National Cholesterol Education Program criteria, and risk of CVD was estimated according to the Framingham study equation. This study demonstrated that the prevalence of metabolic syndrome was 40.8% higher and the risk of CVD was significantly 3.1 times higher among those with metabolic syndrome than among those without it. Of those with metabolic syndrome, 50.6% overall and 81.1% of men had a high risk for CVD. These findings suggest a need to screen and prevent the risk of CVD in vulnerable populations with metabolic syndrome. © 2014 Wiley Publishing Asia Pty Ltd.

Hemiconvulsion-hemiplegia-epilepsy syndrome: characteristic early magnetic resonance imaging findings.

PubMed

Freeman, Jeremy L; Coleman, Lee T; Smith, Lindsay J; Shield, Lloyd K

2002-01-01

We report three patients with hemiconvulsion-hemiplegia-epilepsy syndrome who presented acutely and were shown to have striking neuroimaging findings suggestive of diffuse cytotoxic edema confined to one hemisphere, including extensive diffusion-weighted imaging abnormalities in two cases. Two patients subsequently developed progressive and extensive atrophy of the involved hemisphere. These findings are consistent with earlier descriptions of the classic neuroradiologic features of this syndrome and are helpful in the differential diagnosis of acute infantile hemiplegia. Further, the findings support the previously proposed pathogenetic mechanism of neuronal injury caused by status epilepticus.

Surgical, medical and developmental outcomes in patients with Down syndrome and cataracts.

PubMed

Santoro, Stephanie L; Atoum, Dema; Hufnagel, Robert B; Motley, William W

2017-01-01

Individuals with Down syndrome have an increased risk for congenital cataracts, but descriptions of surgical, medical and developmental outcomes are sparse. Retrospective review of medical charts of patients with Down syndrome with visits to Cincinnati Children's Hospital from 1988 to 2013 was performed. A case series of five patients with Down syndrome and cataracts is presented. A total of 47 patients with Down syndrome without cataracts were used as a developmental control. Developmental quotients were compared using an independent-sample, unequal variance t-test. Post-operative cataract complication rates ranged from 20% to 60%. Visual outcomes were varied; significant associations between complication rate and visual outcome were not found. Developmental quotients did not show an association with number of complications, but were lower for children with Down syndrome with cataracts requiring surgery compared to children with Down syndrome without cataracts. In children with Down syndrome and congenital cataract, surgical intervention has risk for post-operative complications. Further investigation is needed to determine if there is an association between surgical complications and visual or developmental outcomes.

Severe acute respiratory syndrome: implications for perinatal and neonatal nurses.

PubMed

Rebmann, Terri

2005-01-01

Severe acute respiratory syndrome (SARS) is an emerging infection that causes a potentially fatal respiratory disease. Although the SARS outbreak lasted less than 1 year, it resulted in significant morbidity and mortality and impacted nursing practices. A literature review was conducted. Only English language research articles in peer-reviewed journals, national organization publications, and book chapters were utilized. Data from 37 relevant articles were extracted, analyzed, and summarized. SARS' clinical description is presented, including its common signs/symptoms, diagnosis, and treatment. Recommended isolation practices for labor and delivery and proper procedures for donning, using, and doffing personal protective equipment are provided. Potential maternal outcomes include spontaneous miscarriage during the first trimester, preterm birth, emergency cesarean section, renal failure, secondary bacterial pneumonia, sepsis, adult respiratory distress syndrome, disseminated intravascular coagulation, surgical site infection, and maternal death. There have been no documented cases of vertical transmission; passive immunity is suspected on the basis of the presence of antibodies in some maternal body fluids. Potential neonatal outcomes include complications related to premature birth, intrauterine growth restriction, respiratory distress syndrome, and severe gastrointestinal manifestations. It is not known if or when SARS will reemerge, but perinatal and neonatal nurses should become familiar with its clinical description and proper infection control procedures to halt potential outbreaks.

Prevalence and incidence rates of mental syndromes after occupational exposure to polychlorinated biphenyls.

PubMed

Gaum, Petra M; Esser, André; Schettgen, Thomas; Gube, Monika; Kraus, Thomas; Lang, Jessica

2014-09-01

Mental disorders were often reported following hazardous substance exposure. The present study analyses this association in relation to a work-related exposure to PCBs (polychlorinated biphenyls). Specifically, the aim was to investigate (a) the relationship of inner PCB burden and the severity of mental symptoms and (b) the prevalence and incidence of mental syndromes. This study was initiated as part of the occupational medical surveillance program HELPcB (Health Effects in high level exposure to PCB). A total of 136 individuals were included in the analysis. The plasma PCBs were collected via biomonitoring and the psychological syndromes (i.e., somatoform, depressive, anxiety, panic) with a standardized screening instrument. The relationship of PCB and the severity of mental syndromes were analyzed via linear regression. Prevalence rates, the respective odds ratios (OR) and the incidence rates were calculated with logistic regressions. We thereby compared the higher-PCB burdened individuals with those individuals showing PCB levels comparable to the general population. We found especially a significant relationship between PCB burden and depressivity. Within the higher-PCB-exposed group prevalence rates were descriptively higher than for normal-exposed participants, except for anxiety syndrome. Similarly, the higher exposed group had a higher risk for developing a depressive syndrome. The incidence rates were always descriptively higher in higher-exposed group. To summarize, this study supports a relationship between PCB exposure and mental illness. Copyright © 2014 Elsevier GmbH. All rights reserved.

Duplication 12q24----qter in an infant with Dandy-Walker syndrome.

PubMed

MacDonald, E A; Holden, J J

1985-04-01

A boy with the Dandy-Walker syndrome associated with multiple congenital abnormalities is described. Chromosomal analyses revealed an abnormal chromosome 21, inherited from his father who had a balanced translocation involving chromosomes 12 and 21: rcp(12;21)(q24.1;q22.1). The clinical features of this patient are compared with published descriptions for duplication 12q24----qter and a review of the literature pertaining to chromosomal anomalies found in other patients with the Dandy-Walker syndrome is presented.

Intratarsal keratinous eyelid cysts in Gorlin syndrome: A review and reappraisal.

PubMed

Wolkow, Natalie; Jakobiec, Frederick A; Yoon, Michael K

2017-12-27

A 38-year-old woman presented with multiple bilateral recurrent eyelid cysts. Her medical history was notable for Gorlin (nevoid basal cell carcinoma) syndrome. Histopathologic and immunohistochemical examinations revealed that the lesions were intratarsal keratinous cysts. They were similar in appearance to sporadic intratarsal keratinous cysts and closely resembled odontogenic keratocysts of the jaw. Eyelid cysts occur in up to 40% of patients with Gorlin syndrome; however, their description has been cursory and, for the most part, outside of the ophthalmic literature. Although ophthalmologists are familiar with the periocular basal cell carcinomas that occur in patients with Gorlin syndrome, up to 10% of patients never develop a basal cell carcinoma, but they may manifest other ophthalmic findings. Awareness of these other features may contribute to the earlier diagnosis of the syndrome. We discuss the clinical and histopathologic features of intratarsal keratinous cysts in Gorlin syndrome, comparing them to sporadic intratarsal keratinous cysts, other eyelid cysts, and jaw cysts that also characterize this syndrome. We briefly review the ocular and systemic manifestations of Gorlin syndrome and recent genetic and therapeutic developments so that the eyelid cysts may be appreciated within the appropriate context of Gorlin syndrome as a whole. Copyright © 2017 Elsevier Inc. All rights reserved.

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

ERIC Educational Resources Information Center

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

2004-01-01

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

[Burnout syndrome associated factors in gynecologists].

PubMed

Palmer-Morales, Yusvisaret; Prince-Vélez, Roberto; Searcy-Bernal, Roberto

2007-07-01

To determine risk factors associated to Burnout Syndrome in medical gynecologist staff who works at the Gynecology-pediatrics with Family Medicine Hospital number 31 of the IMSS at Mexicali city, Baja California. A cross sectional study was performed in 27 gynecologists (100% of the total gynecologist that works at that particular hospital). A validated survey instrument developed by Maslach was applied to them in order to identify the presence of the syndrome and a general questionnaire including sociodemographic information was also applied to the doctors. The statistical analysis was both descriptive and inferential including chi square, Student t and logistic regression. 74.1% of the doctors who showed signs of Burnout Syndrome were males and 25.9% were females. The average doctors age of the group who developed Burnout was 44.81 +/- 6.11 years. The mean time in years of work for the doctors with the syndrome was 15.56 +/- 7.11 years. Only one doctor was divorced and she presented Burnout Syndrome, on the other hand, 62.5% of the married doctors showed evidence of Burnout Syndrome (p > 0.05). The general prevalence was 59.2%. Of those who showed signs of burnout, 87.5% presented it in low degree, 6.2% presented moderate degree, 6.2% presented high burnout degree. Out of all the organizational factors type, none resulted significative. The prevalence of the reported syndrome is apparently high when compared to the medical anesthesiology staff of the same hospital; however this difference is not statistically significative. In the unvaried and multivariate analyses, no organizational factor shows significance as a potential risk. It is necessary to consider psychological support to the affected doctors and to value the organization of the service, looking for an administrative reengineering.

[Clinical case of management of a patient with Guillain-Barre syndrome].

PubMed

Popov, A V; Babak, C I; Murashko, N K

2012-01-01

Syndrome of Giyena-Barre can arise up in any age, in different regions, for men more frequent, than for women. There are descriptions of clinical supervisions of syndrome in domestic literature, combining with the defeat of the nervous system as a result of different pathogens which are procatarxiss in the start of mechanisms of immune attack on the albumens of mielina. However this disease continues to remain one of most heavy, requiring neyroreanimacionnykh measures, that causes the necessity of development of new methods of treatment in same queue.

Clinical manifestations of trisomy 4p syndrome.

PubMed

Patel, S V; Dagnew, H; Parekh, A J; Koenig, E; Conte, R A; Macera, M J; Verma, R S

1995-06-01

Trisomy 4p syndrome is a distinct clinical entity which was noted almost a quarter century ago by Wilson et al. [71] and later was delineated by Gonzalez and colleagues [29]. The variation in the length of duplicated segment usually associated with monosomy of other genetic material which has resulted in confusion and as a result a so-called 4p syndrome could not be recognized without cytogenetic analysis. We wish to draw the attention of clinicians to this subject by presenting the description of over 75 cases including one from our clinic and stress the point that molecular approaches are imperative to characterize this anomaly. After extensive review, it appears that patients retaining at least the distal two-thirds to the entire short arm share an overlapping phenotypic expression that constitutes pure trisomy 4p syndrome which includes prominent glabella, bulbous nose with flat or depressed nasal bridge, retrognathia, pointed chin, short neck with low hairline, enlarged ears with abnormal helix and antihelix, rocker-bottom feet with prominent heel. Arachnodactyly and camptodactyly. Molecular characterization of 4p is imperative. We have also included an extensive bibliography for clinicians who may find it useful as a single reference source for evaluating their future cases. The 4p-syndrome is a distinct entity but without cytogenetic evaluation, the syndrome can not be recognized.

What are patients with Rett syndrome interested in?

PubMed

Hirano, Daisuke; Taniguchi, Takamichi

2018-02-01

[Purpose] Rett syndrome is a severe neurodevelopmental disease; individuals typically have no verbal skills or purposeful hand movements. In clinical settings, knowledge of their interests would be helpful for therapy. Therefore, we investigated the interests of Rett syndrome patients. [Subjects and Methods] In 2016, we sent a questionnaire regarding the interests of individuals with Rett syndrome to 1,016 directors of schools for special needs education and 204 directors of rehabilitation departments (130 facilities for persons with severe motor and intellectual disabilities, 73 wards for patients with severe motor and intellectual disabilities, and the National Hospital Organization and National Center Hospital, and the National Center of Neurology and Psychiatry) in Japan. We used descriptive statistics and content analysis to examine the answers to the questionnaires. [Results] Information was acquired from 216 individuals (3-53 years old) with Rett syndrome. 92.9% of the individuals were reported to have some interests (e.g., in people, music, things to see, animation, or books). [Conclusion] Individuals with Rett syndrome were observed to be interested in various things despite their having severe motor and intellectual disabilities. These findings suggest that family members and care staff might facilitate various changes or developments of these individuals and discover their hidden strengths by focusing on their interests.

A Case Study of Early Development in Smith-Magenis Syndrome

ERIC Educational Resources Information Center

Fidler, Deborah J.; Philofsky, Amy D.; Hepburn, Susan L.

2006-01-01

The aim of this article is to provide an in-depth description of early development in a young child with Smith-Magenis syndrome (SMS). SMS is a multisystem, neurodevelopmental genetic disorder associated with mental retardation that predisposes individuals to a distinct pattern of maladaptive behaviors and other neuropsychological impairments.…

A Specific Pathway Can Be Identified between Genetic Characteristics and Behaviour Profiles in Prader-Willi Syndrome via Cognitive, Environmental and Physiological Mechanisms

ERIC Educational Resources Information Center

Woodcock, K. A.; Oliver, C.; Humphreys, G. W.

2009-01-01

Background: Behavioural phenotypes associated with genetic syndromes have been extensively investigated in order to generate rich descriptions of phenomenology, determine the degree of specificity of behaviours for a particular syndrome, and examine potential interactions between genetic predispositions for behaviour and environmental influences.…

[Occupational carpal tunnel syndrome: 27 cases].

PubMed

Slimane, Neila Ben; Elleuch, Mohamed; Gharbi, Ezzedine; Babay, Habib; Hamdoun, Moncef

2010-09-01

Carpal tunnel syndrome is the most frequent of tunnel syndromes in the field of the professional sphere. It is related to repetitive movements of flexion-extension of the wrist and fingers or to a support on the heel of the hands. To determine the posts in a risk and to specify the modalities of guaranteed reimbursement of professional carpal tunnel syndrome. A retrospective and descriptive study of 27 medical files of employees indemnified for professional carpal tunnel syndrome registered in the medical control services of the social security office in charge of medical insurance of Tunis and Sousse during a period of 10 years (1995-2004). There were 24 women and 3 men with the average age of 40 years all occupying posts in a risk. Their average time of service is 15 years. Tow-thirds of them work in the clothing and textile industry. The attack is bilateral in 13 cases. Nightly acroparaesthesia rules the clinical rate (44.44% of cases). Motor disorders are noted in the quarter of cases. The electromyogram had confirmed diagnosis in all of cases. The previous state study put in evidence the antecedent of carpal tunnel syndrome in 5 cases and diabetes in one case. Twenty-one patients had profit of permanent partial incapacity with a rate varying from 3 to 25%. Five had got a transfer of working place and one stayed in the same post with a half-time work. The professional origin of carpal tunnel syndrome must be called up in front of an activity in a risk. The reparation is done according to picture 82 of occupational diseases.

Locked-in: the syndrome as depicted in literature.

PubMed

Haan, Joost

2013-01-01

Protagonists who are locked-in can be found throughout fiction, probably because being locked-in serves as a strong philosophical metaphor for human existence. In this chapter, three protagonists who are locked-in due to physical/medical reasons will be described. The fictitious stories of Noirtier from The Count of Monte Cristo by Alexandre Dumas and that of Madame Raquin from Thérèse Raquin by Émile Zola are followed by the real-life story of Jean-Dominique Bauby's The Diving Bell and the Butterfly. Dumas' Noirtier is considered the first description of the locked-in syndrome in literature, and Madame Raquin appears to be locked-in also, but her description leaves many questions. Bauby's autopathography is chosen from many several similar discourses as it contains cross-references to Noirtier, Dumas' prototype of the syndrome, but also because it is of high literary value. The similarities and remarkable differences between these three case reports of this existentialistically important state of being will be highlighted, with an emphasis on the focus of their narratives. © 2013 Elsevier B.V. All rights reserved.

Famous people with Gilles de la Tourette syndrome?

PubMed

Monaco, Francesco; Servo, Serena; Cavanna, Andrea Eugenio

2009-12-01

Virtually no neurologist nor psychiatrist today can be unaware of the diagnosis of Gilles de la Tourette syndrome (GTS). Although the eponymous description by Dr. Georges Gilles de la Tourette was published in 1885, familiarity with this syndrome has been achieved only recently. In this article, the two most renown accounts of exceptional individuals retrospectively diagnosed with GTS are critically analyzed: British lexicographer Samuel Johnson and Austrian musician Wolfgang Amadeus Mozart. In both cases, clinical descriptions have been retrieved from written documents predating Gilles de la Tourette's original publication. The case for Samuel Johnson having GTS is strong, mainly based on Boswell's extensive biographical account. Johnson was reported to have a great range of tics and compulsions, including involuntary utterances, repetitive ejaculations, and echo-phenomena. On the other hand, there is circumstantial evidence that Mozart may have had hyperactivity, restlessness, sudden impulses, odd motor behaviors, echo/palilalia, love of nonsense words, and scatology, the latter being documented in autograph letters ("coprographia"). However, the evidence supporting the core features of GTS, i.e., motor and vocal tics, is rather inconsistent. Thus, GTS seems to be an implausible diagnosis in Mozart's medical history and completely unrelated to his undisputed musical genius.

An autoimmune myositis-overlap syndrome associated with autoantibodies to nuclear pore complexes: description and long-term follow-up of the anti-Nup syndrome.

PubMed

Senécal, Jean-Luc; Isabelle, Catherine; Fritzler, Marvin J; Targoff, Ira N; Goldstein, Rose; Gagné, Michel; Raynauld, Jean-Pierre; Joyal, France; Troyanov, Yves; Dabauvalle, Marie-Christine

2014-11-01

Autoimmune myositis encompasses various myositis-overlap syndromes, each being identified by the presence of serum marker autoantibodies. We describe a novel myositis-overlap syndrome in 4 patients characterized by the presence of a unique immunologic marker, autoantibodies to nuclear pore complexes. The clinical phenotype was characterized by prominent myositis in association with erosive, anti-CCP, and rheumatoid factor-positive arthritis, trigeminal neuralgia, mild interstitial lung disease, Raynaud phenomenon, and weight loss. The myositis was typically chronic, relapsing, and refractory to corticosteroids alone, but remitted with the addition of a second immunomodulating drug. There was no clinical or laboratory evidence for liver disease. The prognosis was good with 100% long-term survival (mean follow-up 19.5 yr).By indirect immunofluorescence on HEp-2 cells, sera from all 4 patients displayed a high titer of antinuclear autoantibodies (ANA) with a distinct punctate peripheral (rim) fluorescent pattern of the nuclear envelope characteristic of nuclear pore complexes. Reactivity with nuclear pore complexes was confirmed by immunoelectron microscopy. In a cohort of 100 French Canadian patients with autoimmune myositis, the nuclear pore complex fluorescent ANA pattern was restricted to these 4 patients (4%). It was not observed in sera from 393 adult patients with systemic sclerosis (n = 112), mixed connective tissue disease (n = 35), systemic lupus (n = 94), rheumatoid arthritis (n = 45), or other rheumatic diseases (n = 107), nor was it observed in 62 normal adults.Autoantibodies to nuclear pore complexes were predominantly of IgG isotype. No other IgG autoantibody markers for defined connective tissue diseases or overlap syndromes were present, indicating a selective and highly focused immune response. In 3 patients, anti-nuclear pore complex autoantibody titers varied in parallel with myositis activity, suggesting a pathogenic link to

A subtype based analysis of urological chronic pelvic pain syndrome in men.

PubMed

Davis, Seth N P; Binik, Yitzchak M; Amsel, Rhonda; Carrier, Serge

2013-07-01

The current conceptualization of urological chronic pelvic pain syndrome in men recognizes a wide variety of pain, psychosocial, sexual and urological symptoms and markers that may contribute to decreased quality of life. Unfortunately, this syndrome is difficult to clearly define and treat due to heterogeneous symptom profiles. We systematically describe these heterogeneous symptoms and investigated whether they could be subtyped into distinct syndromes. A total of 171 men diagnosed with urological chronic pelvic pain syndrome completed validated questionnaires, a structured genital pain interview, digital pain threshold testing and urological assessment. Pain interview results are systematically presented as descriptive information. We used k-means cluster analysis to define subtypes. Seven homogenous, distinct clusters were defined, each with a remarkably different symptom presentation. These clusters were described and related to previous hypotheses of urological chronic pelvic pain syndrome etiology. These clusters may represent distinct subtypes of urological chronic pelvic pain syndrome that can be used to guide treatment more effectively. Defining subtypes may also improve our understanding of the underlying mechanisms of urological chronic pelvic pain syndrome. Copyright © 2013 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

Description of the motor development of 3-12 month old infants with Down syndrome: the influence of the postural body position.

PubMed

Tudella, Eloisa; Pereira, Karina; Basso, Renata Pedrolongo; Savelsbergh, Geert J P

2011-01-01

The purpose of the present study was to describe the rate of motor development in infants with Down syndrome in the age range of 3-12 months and identify the difficulties both in performance and acquiring motor skills in prone, supine, sitting and standing positions. Nineteen infants with Down syndrome and 25 healthy full term typical infants were assessed using the Alberta Infant Motor Scale (AIMS) monthly from 3 to 12 months of age. The infants with Down syndrome achieved significant later the level of motor performance of the typical infants. In the supine posture, the performance was significantly lesser for the Down syndrome infants in comparison to the typical infants from the 3rd to 6th month and in the 8th month. In the prone, sitting and standing postures this difference is found for all the months. In conclusion, the sequence of motor development of the Down syndrome is the same as the typical infants. However infants with Down syndrome need more time to acquire skills, mainly antigravitational ones, among them the standing position. Copyright © 2011 Elsevier Ltd. All rights reserved.

Coronary Angiography Findings and Its Determinants in Patients Presenting With Acute Coronary Syndrome: A Descriptive Analysis from Asian Population.

PubMed

Chourasiya, M; Satheesh, S; Selvaraj, R; Jayaraman, B; Pillai, A A

2017-10-01

The aim was to study the angiographic profile in patients presented as acute coronary syndrome and its relation with risk factors and comparison between genders. This prospective observational study was performed on total 352 patients of acute coronary syndrome were analyzed for various risk factors, angiographic pattern in Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Puducherry, South India from January 2015 to July 2016. Mean age of presentation was 52.62±11.63 years. Male were 271(77.0%) and female were 81(23.0%). Majority of patients were STEMI (67.6%) followed by UA (24.4%) and NSTEMI (8%). Smoker was 117(33.3%) patients. Hypertensive were 124(35.2%) of patients and 149(42.3%) were diabetics. Family history of CAD was positive in 45(12.8%). On angiographic evaluation left main reference diameter was lower in females (4.02±0.72) than males (4.07±0.82). LAD was most commonly involved followed by RCA and LCX among all three group of acute coronary syndrome. Left main was least involved (8.3%). In STEMI SVD (40.3%) was most common presentation, after that DVD was seen in 22.3%, TVD in 10.5%, non-obstructive coronary was seen in 16% of patients and normal coronary was seen in 11% of patients. In UA 28%, 22.8%, 13.2%, 15.8%, 20.2% was seen in SVD, DVD, TVD, non-obstructive and normal coronary respectively. Long length coronary lesions (>20mm) were seen in majority in all type of acute coronary syndrome. Coronary lesion length was not associated with presentation acute coronary syndrome and genders. Male were most commonly presented as acute coronary syndrome. STEMI was most common presentation. Diabetic was most prevalent risk factor. SVD was most common angiographic pattern and LAD was most common involved arteries.

Prevalence of metabolic syndrome among Filipino-Americans: a cross-sectional study.

PubMed

Dalusung-Angosta, Alona; Gutierrez, Antonio

2013-11-01

The aims of this study are a) to examine the prevalence of metabolic syndrome among Filipino-Americans, b) to compare the rate of metabolic syndrome between Filipino men and women, and c) to examine the prevalence of central adiposity. Filipino-Americans are the second largest Asian subgroup in the United States and their leading cause of death is coronary heart disease (CHD). This study utilized a descriptive correlational, cross-sectional design that included a convenience sample of 300 Filipino-Americans residing in Southern Nevada. Survey questionnaires were used to collect the sample's demographic data and presence of CHD risk factors. Waist circumference measurements were used to examine central adiposity. Metabolic syndrome and central adiposity are highly prevalent among Filipino-Americans residing in Southern Nevada. More men than women had the syndrome, but the rate of central adiposity was significantly higher in women than in men. Intensive lifestyle modifications and treatment are indicated to decrease the prevalence of metabolic syndrome and the risk of heart disease in this group. Published by Elsevier Inc.

Guillain-Barré syndrome: What have we learnt during one century? A personal historical perspective.

PubMed

Uncini, A

2016-10-01

We are approaching the centenary of the first description of Guillain-Barré syndrome. The past 30 years had witnessed an amazing progress in the understanding of the immunological and pathological mechanisms of this disorder. We now recognize that Guillain-Barré syndrome is remarkably heterogeneous and under this umbrella term are several variants and subtypes with distinct clinical, electrophysiological and immunopathological features. This review is a historical journey, through a personal perspective, following the milestones that led to the current substantial knowledge of Guillain-Barré syndrome. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

Alport syndrome--insights from basic and clinical research.

PubMed

Kruegel, Jenny; Rubel, Diana; Gross, Oliver

2013-03-01

In 1927, Arthur C. Alport first published his description of a triad of symptoms in a family with hereditary congenital haemorrhagic nephritis, deafness and ocular changes. A few years after his death, this group of symptoms was renamed Alport syndrome. To this day, Alport syndrome still inevitably leads to end-stage renal disease and the need for renal replacement therapy, starting in young adulthood. During the past two decades, research into this rare disease has focused on the effects of mutations in collagen type IV and the role of changes in podocytes and the glomerular basement membrane that lead to early kidney fibrosis. Animal models of Alport syndrome also demonstrate the pathogenetic importance of interactions between podocytes and the extracellular matrix. Such models might also help researchers to answer basic questions about podocyte function and the development of fibrosis, and to develop new therapeutic approaches that might be of use in other kidney diseases. In this Review, we discuss the latest basic and clinical research on Alport syndrome, focusing on the roles of podocyte pathology and the extracellular matrix. We also highlight early diagnosis and treatment options for young patients with this disorder.

Cotard Syndrome.

PubMed

Dieguez, Sebastian

2018-01-01

Cotard's syndrome is often described as the delusional belief that one is dead or non-existent. However, Jules Cotard's initial description (1880) of the "delusion of negations" was much richer and also involved delusions and claims of immortality and enormity, feelings of damnation, and illusions of bodily dissolution and transformation. Alternatively conceived as an extreme case of depression, hypochondria, or psychosis, the condition is considered rare and remains poorly understood. Cotard himself provided a taxonomy and several explanations for the condition, focusing on its distinction from classical persecutory delusions and suggesting that it could be a kind of reversed grandiosity. He proposed a psychosensory basis in the dissolution of mental imagery, which he then extended to a more general psychomotor impairment of volition. Other early authors highlighted a disorder of the bodily self, and more recent theories postulated an impairment of right hemispheric functions, leading to perceptual and somatosensory feelings of unreality, which coupled with reasoning impairments and an internalized attributional style led in turn to beliefs of non-existence. However, despite its striking presentation and its relevance to our understanding of self-awareness, Cotard's syndrome remains an elusive condition, rarely reported and poorly researched. © 2018 S. Karger AG, Basel.

Molecular subtype classification of urothelial carcinoma in Lynch syndrome.

PubMed

Therkildsen, Christina; Eriksson, Pontus; Höglund, Mattias; Jönsson, Mats; Sjödahl, Gottfrid; Nilbert, Mef; Liedberg, Fredrik

2018-05-23

Lynch syndrome confers an increased risk for urothelial carcinoma (UC). Molecular subtypes may be relevant to prognosis and therapeutic possibilities, but have to date not been defined in Lynch syndrome-associated urothelial cancer. We aimed to provide a molecular description of Lynch syndrome-associated UC. Thus, Lynch syndrome-associated UCs of the upper urinary tract and the urinary bladder were identified in the Danish hereditary nonpolyposis colorectal cancer (HNPCC) register and were transcriptionally and immunohistochemically profiled and further related to data from 307 sporadic urothelial carcinomas. Whole-genome mRNA expression profiles of 41 tumors and immunohistochemical stainings against FGFR3, KRT5, CCNB1, RB1, and CDKN2A (p16) of 37 tumors from patients with Lynch syndrome were generated. Pathological data, microsatellite instability, anatomic location, and overall survival data were analyzed and compared with sporadic bladder cancer. The 41 Lynch syndrome-associated UC developed at a mean age of 61 years with 59% women. mRNA expression profiling and immunostaining classified the majority of the Lynch syndrome-associated UC as urothelial-like tumors with only 20% being genomically unstable, basal/SCC-like, or other subtypes. The subtypes were associated with stage, grade, and microsatellite instability. Comparison to larger datasets revealed that Lynch syndrome-associated UC shares molecular similarities with sporadic UC. In conclusion, transcriptomic and immunohistochemical profiling identifies a predominance of the urothelial-like molecular subtype in Lynch syndrome and reveals that the molecular subtypes of sporadic bladder cancer are relevant also within this hereditary, mismatch-repair defective subset. © 2018 The Authors. Published by FEBS Press and John Wiley & Sons Ltd.

Waardenburg syndrome type 3 (Klein-Waardenburg syndrome) segregating with a heterozygous deletion in the paired box domain of PAX3: a simple variant or a true syndrome?

PubMed

Tekin, M; Bodurtha, J N; Nance, W E; Pandya, A

2001-10-01

Klein-Waardenburg syndrome or Waardenburg syndrome type 3 (WS-III; MIM 148820) is characterized by the presence of musculoskeletal abnormalities in association with clinical features of Waardenburg syndrome type 1 (WS-I). Since the description of the first patient in 1947 (D. Klein, Arch Klaus Stift Vererb Forsch 1947: 22: 336-342), a few cases have been reported. Only occasional families have demonstrated autosomal-dominant inheritance of WS-III. In a previous report, a missense mutation in the paired domain of the PAX3 gene has been described in a family with dominant segregation of WS-III. In this report, we present a second family (mother and son) with typical clinical findings of WS-III segregating with a heterozygous 13-bp deletion in the paired domain of the PAX3 gene. Although homozygosity or compound heterozygosity has also been documented in patients with severe limb involvement, a consistent genotype-phenotype correlation for limb abnormalities associated with heterozygous PAX3 mutations has not previously been apparent. Heterozygous mutations could either reflect a unique dominant-negative effect or possibly the contribution of other unlinked genetic modifiers in determining the phenotype.

Familial occurrence of cerebral gigantism, Sotos' syndrome.

PubMed

Hansen, F J; Friis, B

1976-05-01

Since the original description of cerebral gigantism, about 85 cases have been reported. Four papers comment on familial occurrence but never in parents and their children. This paper describes the syndrome in a mother and her child, which, together with facts pointing towards prenatal etiology, such as excessive birthweight, striking mutual resemblance and abnormal dermatoglyphics, points to a genetic defect. Previous endocrine studies are enlarged by the findings of normal serum somatomedin and serum prolactin.

Application of the transtheoretical model: exercise behavior in Korean adults with metabolic syndrome.

PubMed

Kim, Chun-Ja; Kim, Bom-Taeck; Chae, Sun-Mi

2010-01-01

Although regular exercise has been recommended to reduce the risk of cardiovascular disease (CVD) among people with metabolic syndrome, little information is available about psychobehavioral strategies in this population. The purpose of this study was to identify the stages, processes of change, decisional balance, and self-efficacy of exercise behavior and to determine the significant predictors explaining regular exercise behavior in adults with metabolic syndrome. This descriptive, cross-sectional survey design enrolled a convenience sample of 210 people with metabolic syndrome at a university hospital in South Korea. Descriptive statistics were used to analyze demographic characteristics, metabolic syndrome risk factors, and transtheoretical model-related variables. A multivariate logistic regression analysis was used to determine the most important predictors of regular exercise stages. Action and maintenance stages comprised 51.9% of regular exercise stages, whereas 48.1% of non-regular exercise stages were precontemplation, contemplation, and preparation stages. Adults with regular exercise stages displayed increased high-density lipoprotein cholesterol level, were more likely to use consciousness raising, self-reevaluation, and self-liberation strategies, and were less likely to evaluate the merits/disadvantages of exercise, compared with those in non-regular exercise stages. In this study of regular exercise behavior and transtheoretical model-related variables, consciousness raising, self-reevaluation, and self-liberation were associated with a positive effect on regular exercise behavior in adults with metabolic syndrome. Our findings could be used to develop strategies and interventions to maintain regular exercise behavior directed at Korean adults with metabolic syndrome to reduce CVD risk. Further prospective intervention studies are needed to investigate the effect of regular exercise program on the prevention and/or reduction of CVD risk among this

Kidney involvement in MELAS syndrome: Description of 2 cases.

PubMed

Alcubilla-Prats, Pau; Solé, Manel; Botey, Albert; Grau, Josep Maria; Garrabou, Glòria; Poch, Esteban

2017-04-21

MELAS syndrome -myopathy, encephalopathy, lactic acidosis and stroke-like episodes- is a maternally-inherited mitochondrial cytopathy related to several mitochondrial DNA mutations, with the A3243G mutation in tRNA Leu gene being the most frequent of them. Apart from its typical symptomatology, patients usually exhibit a maternally-inherited history of neurosensory deafness and insulin-dependent type 2 diabetes mellitus (T2DM). Recent studies have shown that few patients carrying a A3243G mutation also suffer from renal dysfunction, usually in form of focal segmental glomerulosclerosis (FSGS). In this study we examine kidney involvement in 2 unrelated patients with a A3243G mutation by genetic testing. Both have a maternally-inherited neurosensory deafness and insulin-dependent T2DM. A renal biopsy was performed in both patients. One patient developed nephrotic proteinuria and renal insufficiency, with FSGS findings being observed in the kidney biopsy, whereas the other suffered from mild proteinuria and renal insufficiency, with non-specific glomerular changes. The presence of FSGS or other kidney involvement accompanied by hereditary neurosensory deafness and T2DM could be suggestive of a A3243G tRNA Leu mutation and should prompt a genetic testing and an evaluation of potential extrarenal involvement. Copyright © 2017 Elsevier España, S.L.U. All rights reserved.

Modifiable Lifestyle Behaviors Are Associated With Metabolic Syndrome in a Taiwanese Population.

PubMed

Lin, Kuei-Man; Chiou, Jeng-Yuan; Ko, Shu-Hua; Tan, Jung-Ying; Huang, Chien-Ning; Liao, Wen-Chun

2015-11-01

To explore associations between metabolic syndrome and modifiable lifestyle behaviors among the adult population in Taiwan. This cross-sectional study analyzed data from a nationally representative sample that participated in the 2005-2008 Nutrition and Health Survey in Taiwan. The sample (2,337 participants older than 19 years) provided data on demographic characteristics, modifiable lifestyle behaviors, anthropometric measurements, and blood chemistry panel. These data were analyzed by descriptive statistics, univariate logistic regression, and multivariate logistic regression to determine factors associated with metabolic syndrome. Metabolic syndrome had a prevalence of 25.2%, and this prevalence increased with age. In univariate regression analysis, metabolic syndrome was associated with age, living with family members, educational level, and modifiable lifestyle behaviors (smoking, drinking, betel quid chewing, and physical activity). Individuals with a smoking history and currently chewing betel quid had the highest risk for metabolic syndrome. The risk for metabolic syndrome might be reduced by public health campaigns to encourage people to quit smoking cigarettes and chewing betel quid. Implementing more modifiable lifestyle behaviors in daily life will decrease metabolic syndrome in Taiwan. Considering that betel quid chewing and tobacco smoking interact to adversely affect metabolic syndrome risk, public health campaigns against both behaviors seem to be a cost-effective and efficient health promotion strategy to reduce the prevalence rate of metabolic syndrome. © 2015 Sigma Theta Tau International.

Dubowitz syndrome: review of 141 cases including 36 previously unreported patients.

PubMed

Tsukahara, M; Opitz, J M

1996-05-03

We review clinical information on 141 individuals with Dubowitz syndrome, 105 reported since 1965, and 36 previously unreported. We define the Dubowitz syndrome phenotype on the basis of clinical descriptions. The facial appearance is characteristic and present in most patients with Dubowitz syndrome. The phenotypic spectrum is quite variable and ranges from normal growth and head circumference with mild psychomotor retardation and lack of eczema to a condition of severe growth retardation, mental retardation, microcephaly, and eczema. Overall, the condition may involve the cutaneous, ocular, dental, digestive, musculoskeletal, urogenital, cardiovascular, neurological, hematological, and immune systems. Characteristic behavior patterns which have not been cited previously are present in our cases; most patients are hyperactive, shy, hate crowds, and like music, rhythm, and vibrations from music speakers, tape recorders, or transmitted through floors. Dubowitz syndrome is an autosomal recessive disorder with possibly increased frequency of parental consanguinity. Heterogeneity cannot be excluded at this time.

Micrococcus sedentarius bacteraemia presenting with haemophagocytic syndrome in previously healthy boy.

PubMed

Kuskonmaz, Baris; Kara, Ates; Ozen, Maide; Cengiz, A Bülent; Ozen, Metehan; Seçmeer, Gülten; Gürgey, Aytemiz

2006-01-01

Haemophagocytic syndromes are the clinical manifestation of an increased macrophagic activity with haemophagocytosis. Infection-associated HS was originally described by Risdall in 1979, in viral disease. Since the initial description HS has also been documented in patients with bacterial, parasitic or fungal infections. We describe a case of Micrococcus sedentarius bacteraemia in a previously healthy 10-y-old boy with haemophagocytic syndrome. Species of micrococci are generally considered as non-pathogenic commensals that colonize the skin, mucosae and oropharynx. We report the first case of Microccoccus sedentarius bacteraemia in an immunocompetent host and first case of HS associated with Micrococcus species.

Brief Report: Life History and Neuropathology of a Gifted Man with Asperger Syndrome

ERIC Educational Resources Information Center

Weidenheim, Karen, M.; Escobar, Alfonso; Rapin, Isabelle

2012-01-01

Despite recent interest in the pathogenesis of the autism spectrum disorders (pervasive developmental disorders), neuropathological descriptions of brains of individuals with well documented clinical information and without potentially confounding symptomatology are exceptionally rare. Asperger syndrome differs from classic autism by lack of…

Culture-bound syndromes in Hispanic primary care patients.

PubMed

Bayles, Bryan P; Katerndahl, David A

2009-01-01

We sought to document Hispanic primary care patients' knowledge and experience of five culture-bound syndromes (CBS), as well as the basic socio-cultural correlates of these disorders. A convenience sample of 100 adult Hispanic patients presenting in an urban South Texas primary care clinic was recruited to complete a brief cross-sectional survey, presented in an oral format. Interviews sought information concerning five culture-bound syndromes--susto, empacho, nervios, mal de ojo, and ataques de nervios. Additional demographic, socio-economic, and acculturation data was collected. Descriptive and bivariate statistics (chi square, Fisher's) were used to assess relationships among variables and experience with each CBS. A multivariate logistic analysis was conducted to determine the possible contributions of age, gender, acculturation, and education to the personal experience of a culture-bound syndrome. Results indicate that 77% of respondents had knowledge of all five syndromes, with 42% reporting having personally experienced at least one CBS. Nervios was the most commonly suffered disorder, being reported by 30 respondents. This was followed, in declining order ofprevalence, by susto, mal de ojo, empacho, and ataques de nervios. Multivariate logistic regression analysis found that higher education beyond high school was associated with a slightly decreased likelihood of reporting having suffered from any culture-bound syndrome. While co-occurrence among these disorders occurred, the patterns of predictors suggest that the co-occurrence is not a reflection of mislabeling of one common syndrome. Knowledge of and experience with culture-bound syndromes is common among Hispanic primary care patients in South Texas. Healthcare providers ought to consider discussing these illnesses in a non-judgmental manner with patients who present with symptoms that are consistent with these syndromes. Future studies, with larger sample sizes, are warranted to elucidate the nature

Upper urinary tract carcinoma in Lynch syndrome cases.

PubMed

Crockett, David G; Wagner, David G; Holmäng, Sten; Johansson, Sonny L; Lynch, Henry T

2011-05-01

Patients with Lynch syndrome are much more likely to have generally rare upper urinary tract urothelial carcinoma but not bladder urothelial carcinoma. While the risk has been quantified, to our knowledge there is no description of how this population of patients with Lynch syndrome and upper urinary tract cancer differs from the general population with upper urinary tract cancer. We obtained retrospective data on a cohort of patients with Lynch syndrome from the Hereditary Cancer Center in Omaha, Nebraska and compared the data to those on a control general population from western Sweden. These data were supplemented by a new survey about exposure to known risk factors. Of the patients with Lynch syndrome 91% had mutations in MSH2 rather than in MSH1 and 79% showed upper tract urothelial carcinoma a mean of 15.85 years after prior Lynch syndrome-type cancer. Median age at diagnosis was 62 years vs 70 in the general population (p <0.0001). Only half of our patients had a significant smoking history and the male-to-female ratio was 0.95. Of patients with Lynch syndrome 51% had urothelial carcinoma in the ureter while it occurred in the renal pelvis in 65% of the general population (p = 0.0013). Similar numbers of high grade tumors were found in the Lynch syndrome and general populations (88% and 74%, respectively, p = 0.1108). Upper urinary tract tumors develop at a younger age and are more likely to be in the ureter with an almost equal gender ratio in patients with Lynch syndrome. It has high grade potential similar to that in the general population. Copyright © 2011 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

Kabuki syndrome: diagnostic and treatment considerations

PubMed Central

2012-01-01

Kabuki syndrome (KS) is a rare genetic disorder first diagnosed in 1981. Unknown by most primary care physicians and clinicians in the mental health fields, children with KS present with unique facial characteristics, mental retardation, health problems and socio-emotional delays that are often mistaken for other diagnostic problems. Literature detailing the psychological and psychosocial features of this disorder is scant, and psychotherapeutic approaches have not been described. In this article, we present a case description and treatment of a child with KS and her family. A brief review of KS is then provided, highlighting its signs and symptoms. Factors related to differential diagnoses are identified to aid primary care and mental health clinicians in better understanding this unique syndrome. Interventions with similar populations are discussed from which a psychological approach to KS is suggested. Finally, implications for primary care physicians are described and suggestions for further research indicated. PMID:23997823

Neurobehavioral phenotype in Prader-Willi syndrome.

PubMed

Whittington, Joyce; Holland, Anthony

2010-11-15

The focus of this article is on the lifetime development of people with Prader-Willi syndrome (PWS) and specifically on the neurobehavioral phenotype. We consider studies of this aspect of the phenotype (the "behavioral phenotype" of the syndrome) that have confirmed that there are specific behaviors and psychiatric disorders, the propensities to which are increased in those with PWS, and cannot be accounted for by other variables such as IQ or adaptive behavior. Beginning with a description of what is observed in people with PWS, we review the evolving PWS phenotype and consider how some aspects of the phenotype might be best explained, and how this complex phenotype may relate to the equally complex genotype. We then consider in more detail some of the neurobehavioral aspects of the phenotype listed above that raise the greatest management problems for parents and carers. © 2010 Wiley-Liss, Inc.

[Burnout syndrome in elderly care takers working in social care homes].

PubMed

González-Losa, María Del Refugio; Vázquez-García, Carlos; Esperón, Ramón

2013-01-01

To identify the presence and characteristics of Burnout syndrome in subjects dedicated to the care of older adults in homes for seniors. A descriptive study was done, 46 workers of 10 homes in Mérida, Yucatán, were included. Subjects older than 18 years and who have direct interaction with adults were included. To evaluate the presence of Burnout syndrome the Spanish version of the Maslach Burnout Inventory was used. Sixty-five percent of the population studied was female and 35% male, the average age was 38 years, with a range of 19-60 years. 87% of the studied population had some level of Burnout syndrome. In 60% of homes all the workers were affected. Regard gender 90% of the women has some grade of Burnout syndrome and 81% of males. Respect areas affected, 30% had emotional exhaustion, 46% depersonalization and 95% lack of realization. According the number of affected areas 45% were affected in one area, 30% in two and 25% in three, the latter representing 22% of the study population. There is a high frequency of Burnout syndrome among subjects who are dedicated to caring for the elderly. Personal accomplishment was the most affected area. Subjects with lowest salary present higher frequency of Burnout syndrome.

Longterm visual prognosis in Usher syndrome types 1 and 2.

PubMed

Sadeghi, André M; Eriksson, Kristina; Kimberling, William J; Sjöström, Anders; Möller, Claes

2006-08-01

To estimate the age at diagnosis of retinitis pigmentosa and to determine visual acuity deterioration, visual field impairment and the frequency of cataracts in Usher syndrome types 1 and 2. We carried out a retrospective study of 328 affected subjects with Usher syndrome types 1 and 2. Study subjects were divided into seven different age groups by decade. Data were analysed using descriptive statistics, general linear model anova and survival analysis. Retinitis pigmentosa was diagnosed significantly earlier in subjects with Usher syndrome type 1 than in those with type 2. Visual acuity was significantly more impaired in affected subjects with Usher syndrome type 1 than in those with type 2 from 50 years of age onwards. Survival analysis revealed a significant difference in visual field loss (syndrome type 1 than type 2. Progressive loss of visual acuity and visual field begins to be substantial between the second and third decades of life in both Usher types. The rate of degeneration varies between individuals in both groups. The data are useful for the counselling of affected subjects with Usher syndrome types 1 and 2.

Natural history of the classical form of primary growth hormone (GH) resistance (Laron syndrome).

PubMed

Laron, Z

1999-04-01

A description of the clinical, biochemical and endocrinological features of the classical form of the syndrome of primary growth hormone (GH) resistance (Laron syndrome) is presented including the progressive changes during follow-up from infancy into adulthood. The main diagnostic features are: severe growth retardation, acromicria, small gonads and genitalia, and obesity. Serum GH levels are elevated and insulin-like growth factor-I (IGF-I) values are low and do not rise upon stimulation by exogenous hGH. The pathogenesis of this syndrome is due to various molecular defects from exon deletion to nonsense, frameshift, splice and missense mutations in the GH receptor (GH-R) gene or in its post-receptor pathways.

Chronic pain in hypermobility syndrome and Ehlers–Danlos syndrome (hypermobility type): it is a challenge

PubMed Central

Scheper, Mark C; de Vries, Janneke E; Verbunt, Jeanine; Engelbert, Raoul HH

2015-01-01

Generalized joint hypermobility (GJH) is highly prevalent among patients diagnosed with chronic pain. When GJH is accompanied by pain in ≥4 joints over a period ≥3 months in the absence of other conditions that cause chronic pain, the hypermobility syndrome (HMS) may be diagnosed. In addition, GJH is also a clinical sign that is frequently present in hereditary diseases of the connective tissue, such as the Marfan syndrome, osteogenesis imperfecta, and the Ehlers–Danlos syndrome. However, within the Ehlers–Danlos spectrum, a similar subcategory of patients having similar clinical features as HMS but lacking a specific genetic profile was identified: Ehlers–Danlos syndrome hypermobility type (EDS-HT). Researchers and clinicians have struggled for decades with the highly diverse clinical presentation within the HMS and EDS-HT phenotypes (Challenge 1) and the lack of understanding of the pathological mechanisms that underlie the development of pain and its persistence (Challenge 2). In addition, within the HMS/EDS-HT phenotype, there is a high prevalence of psychosocial factors, which again presents a difficult issue that needs to be addressed (Challenge 3). Despite recent scientific advances, many obstacles for clinical care and research still remain. To gain further insight into the phenotype of HMS/EDS-HT and its mechanisms, clearer descriptions of these populations should be made available. Future research and clinical care should revise and create consensus on the diagnostic criteria for HMS/EDS-HT (Solution 1), account for clinical heterogeneity by the classification of subtypes within the HMS/EDS-HT spectrum (Solution 2), and create a clinical core set (Solution 3). PMID:26316810

Chronic pain in hypermobility syndrome and Ehlers-Danlos syndrome (hypermobility type): it is a challenge.

PubMed

Scheper, Mark C; de Vries, Janneke E; Verbunt, Jeanine; Engelbert, Raoul Hh

2015-01-01

Generalized joint hypermobility (GJH) is highly prevalent among patients diagnosed with chronic pain. When GJH is accompanied by pain in ≥4 joints over a period ≥3 months in the absence of other conditions that cause chronic pain, the hypermobility syndrome (HMS) may be diagnosed. In addition, GJH is also a clinical sign that is frequently present in hereditary diseases of the connective tissue, such as the Marfan syndrome, osteogenesis imperfecta, and the Ehlers-Danlos syndrome. However, within the Ehlers-Danlos spectrum, a similar subcategory of patients having similar clinical features as HMS but lacking a specific genetic profile was identified: Ehlers-Danlos syndrome hypermobility type (EDS-HT). Researchers and clinicians have struggled for decades with the highly diverse clinical presentation within the HMS and EDS-HT phenotypes (Challenge 1) and the lack of understanding of the pathological mechanisms that underlie the development of pain and its persistence (Challenge 2). In addition, within the HMS/EDS-HT phenotype, there is a high prevalence of psychosocial factors, which again presents a difficult issue that needs to be addressed (Challenge 3). Despite recent scientific advances, many obstacles for clinical care and research still remain. To gain further insight into the phenotype of HMS/EDS-HT and its mechanisms, clearer descriptions of these populations should be made available. Future research and clinical care should revise and create consensus on the diagnostic criteria for HMS/EDS-HT (Solution 1), account for clinical heterogeneity by the classification of subtypes within the HMS/EDS-HT spectrum (Solution 2), and create a clinical core set (Solution 3).

Testing Syndromes of Psychopathology in Parent and Youth Ratings Across Societies.

PubMed

Ivanova, Masha Y; Achenbach, Thomas M; Rescorla, Leslie A; Guo, Jiesi; Althoff, Robert R; Kan, Kees-Jan; Almqvist, Fredrik; Begovac, Ivan; Broberg, Anders G; Chahed, Myriam; da Rocha, Marina Monzani; Dobrean, Anca; Döepfner, Manfred; Erol, Nese; Fombonne, Eric; Fonseca, Antonio Castro; Forns, Maria; Frigerio, Alessandra; Grietens, Hans; Hewitt-Ramirez, Nohelia; Juarez, Fernando; Kajokienė, Ilona; Kanbayashi, Yasuko; Kim, Young-Ah; Larsson, Bo; Leung, Patrick; Liu, Xianchen; Maggiolini, Alfio; Minaei, Asghar; Moreira, Paulo A S; Oh, Kyung Ja; Petot, Djaouida; Pisa, Cecilia; Pomalima, Rolando; Roussos, Alexandra; Rudan, Vlasta; Sawyer, Michael; Shahini, Mimoza; Ferreira de Mattos Silvares, Edwiges; Simsek, Zeynep; Steinhausen, Hans-Christoph; Szirovicza, Lajos; Valverde, Jose; Viola, Laura; Weintraub, Sheila; Metzke, Christa Winkler; Wolanczyk, Tomasz; Woo, Bernardine; Zhang, Eugene Yuqing; Zilber, Nelly; Žukauskienė, Rita; Verhulst, Frank C

2018-01-24

As societies become increasingly diverse, mental health professionals need instruments for assessing emotional, behavioral, and social problems in terms of constructs that are supported within and across societies. Building on decades of research findings, multisample alignment confirmatory factor analyses tested an empirically based 8-syndrome model on parent ratings across 30 societies and youth self-ratings across 19 societies. The Child Behavior Checklist for Ages 6-18 and Youth Self-Report for Ages 11-18 were used to measure syndromes descriptively designated as Anxious/Depressed, Withdrawn/Depressed, Somatic Complaints, Social Problems, Thought Problems, Attention Problems, Rule-Breaking Behavior, and Aggressive Behavior. For both parent ratings (N = 61,703) and self-ratings (N = 29,486), results supported aggregation of problem items into 8 first-order syndromes for all societies (configural invariance), plus the invariance of item loadings (metric invariance) across the majority of societies. Supported across many societies in both parent and self-ratings, the 8 syndromes offer a parsimonious phenotypic taxonomy with clearly operationalized assessment criteria. Mental health professionals in many societies can use the 8 syndromes to assess children and youths for clinical, training, and scientific purposes.

Editorial: X-chromosome-linked Kallmann's syndrome: Pathology at the molecular level

DOE Office of Scientific and Technical Information (OSTI.GOV)

Prager, D.; Braunstein, G.D.

Kallmann's syndrome or olfactogenital dysplasia refers to a disorder characterized by hypogonadotropic hypogonadism and anosmia or hyposmia which can occur sporadically or in a familial setting. Originally described in 1856, the first familial cases were reported by Kallmann et al., in 1944. Based on segregation analysis of multiple families, three modes of transmission have been documented: X-linked, autosomal dominant with variable penetrance, and autosomal recessive. Kallmann's syndrome occurs in less than 1 in 10,000 male births, with a 5-fold excess of affected males to females, suggesting that the X-linked form is the most frequent. By genetic linkage analysis the X-linkedmore » form of Kallmann's syndrome was localized to Xp22.3. This was confirmed by the description of patients with contiguous gene syndromes due to deletions of various portions of the distal short arm of the X-chromosome. Such patients present with complex phenotypes characterized by a combination of Kallmann's syndrome with X-linked icthyosis due to steroid sulfatase deficiency, chondrodysplasia punctata, short stature, and mental retardation. DNA analysis has identified and mapped the genes responsible for these disorders. 10 refs., 1 fig., 1 tab.« less

The Educational and Psychological Interventions for Children and Adolescents with Marfan Syndrome.

ERIC Educational Resources Information Center

Stebbins, Molly S.; McIntosh, David E.

Marfan's syndrome is an autosomal dominant chromosomal disorder of connective tissue which may cause major abnormalities in the musculoskeletal, ocular (pertaining to the eye), and cardiovascular systems of the body. A description of this disorder is presented in this paper. It affects approximately .03 to .05% of the population; approximately…

Craniofacial abnormalities among patients with Edwards Syndrome

PubMed Central

Rosa, Rafael Fabiano M.; Rosa, Rosana Cardoso M.; Lorenzen, Marina Boff; Zen, Paulo Ricardo G.; Graziadio, Carla; Paskulin, Giorgio Adriano

2013-01-01

OBJECTIVE To determine the frequency and types of craniofacial abnormalities observed in patients with trisomy 18 or Edwards syndrome (ES). METHODS This descriptive and retrospective study of a case series included all patients diagnosed with ES in a Clinical Genetics Service of a reference hospital in Southern Brazil from 1975 to 2008. The results of the karyotypic analysis, along with clinical data, were collected from medical records. RESULTS: The sample consisted of 50 patients, of which 66% were female. The median age at first evaluation was 14 days. Regarding the karyotypes, full trisomy of chromosome 18 was the main alteration (90%). Mosaicism was observed in 10%. The main craniofacial abnormalities were: microretrognathia (76%), abnormalities of the ear helix/dysplastic ears (70%), prominent occiput (52%), posteriorly rotated (46%) and low set ears (44%), and short palpebral fissures/blepharophimosis (46%). Other uncommon - but relevant - abnormalities included: microtia (18%), orofacial clefts (12%), preauricular tags (10%), facial palsy (4%), encephalocele (4%), absence of external auditory canal (2%) and asymmetric face (2%). One patient had an initial suspicion of oculo-auriculo-vertebral spectrum (OAVS) or Goldenhar syndrome. CONCLUSIONS: Despite the literature description of a characteristic clinical presentation for ES, craniofacial alterations may be variable among these patients. The OAVS findings in this sample are noteworthy. The association of ES with OAVS has been reported once in the literature. PMID:24142310

Association of external auditory canal atresia, vertical talus, and hypertelorism: confirmation of Rasmussen syndrome.

PubMed

Julia, Sophie; Pedespan, Jean Michel; Boudard, Philippe; Barbier, Richard; Gavilan-Cellie, Isabelle; Chateil, Jean François; Lacombe, Didier

2002-06-15

In 1979, Rasmussen et al. reported six members of a family with congenital, bilateral, symmetrical, and isolated subtotal atresia of the external auditory canal, bilateral foot abnormalities, and increased interocular distance. The family history suggested autosomal dominant inheritance of the syndrome. We report a 3-year-old girl whose symptoms are compatible with this diagnosis. Therefore, we suggest confirmation of the description by Rasmussen et al. as a distinct entity and suggest the term Rasmussen syndrome for this condition. Copyright 2002 Wiley-Liss, Inc.

Poland syndrome with bilateral features: case description with review of the literature.

PubMed

Baban, Anwar; Torre, Michele; Bianca, Sebastiano; Buluggiu, Anna; Rossello, Mario Igor; Calevo, Maria Grazia; Valle, Maura; Ravazzolo, Roberto; Jasonni, Vincenzo; Lerone, Margherita

2009-07-01

Poland syndrome (PS) has been described as unilateral pectoral muscle deficiency variably associated with ipsilateral thoracic and upper limb anomalies. Bilateral hypoplasia/aplasia of the pectoralis muscle and upper limb defects in association with variable thoracic muscles, chest wall deformities and lower limb defects have been infrequently reported in the literature. We report on a 3(1/2)-year-old girl with clinical features consisting in bilateral asymmetric pectoral muscle defects (complete agenesis on the left side and agenesis of the sternocostal head on the right side), nipple hypoplasia, left rib defect, and right hand symbrachydactyly. In this study, we reviewed the bilateral features present in our patient and those described in the literature. Hypotheses explaining bilateral features in PS are reviewed.

Weight loss experiences of obese perimenopausal women with metabolic syndrome.

PubMed

Su, Mei-Chen; Lin, Hung-Ru; Chu, Nain-Feng; Huang, Chih-Hsung; Tsao, Lee-Ing

2015-07-01

To develop a descriptive theory for the weight loss experiences of obese perimenopausal women with metabolic syndrome. Obesity and metabolic syndrome both pose a threat to the health of perimenopausal women; therefore, understanding perimenopausal women's subjective feelings and experiences is beneficial to establishing effective prevention strategies. However, studies have rarely explored these relevant experiences. A qualitative study using the grounded theory method to establish a descriptive theory. Eighteen obese perimenopausal women with metabolic syndrome aged 45-60 years participated in comprehensive interviews. 'Crossing the gaps to making life modifications' was the core category, and 'the awareness of weight gain and health alarm' was the antecedent condition. In the weight loss experience, the following three interaction categories were identified: (1) 'experiencing bad feelings,' (2) 'encountering obstacles' and (3) 'making efforts to transition to a new life.' Some women adhered to new life habits through perceiving social support and by using self-incentives. Finally, women enjoyed and mastered self-monitoring of their health in their new life, and practiced new changes as part of their life. However, some participants felt that making changes to their life was too time-consuming. Therefore, these women chose to live with their abnormal health without making changes. Obese perimenopausal women with metabolic syndrome experienced various gaps in their weight loss process. Although they struggled with many obstacles, these women were able to learn from their experiences and face their health challenges. These findings can guide healthcare professionals to provide appropriate interventions to understand the hidden health problems of this particular group of women. Healthcare professionals should develop a set of plans by which women receive a complete weight loss program and support from professionals and family. © 2015 John Wiley & Sons Ltd.

Descriptive anatomy of the interscalene triangle and the costoclavicular space and their relationship to thoracic outlet syndrome: a study of 60 cadavers.

PubMed

Dahlstrom, Kelly A; Olinger, Anthony B

2012-06-01

Thoracic outlet syndrome classically results from constrictions in 1 or more of 3 specific anatomical locations: the interscalene triangle, costoclavicular space, and coracopectoral tunnel. Magnetic resonance and computed tomographic imaging studies suggest that, of the 3 potential locations for constriction, the costoclavicular space is the most susceptible to compression. This study of human cadavers aims to expand on the descriptive anatomy of the interscalene triangle and associated costoclavicular space. The interscalene angle, interscalene triangle base, and costoclavicular space were measured on 120 sides of embalmed human cadavers. Linear distances and angles were measured using a caliper and protractor, respectively. The data were analyzed by calculating the mean, range, and standard deviation. The range for the interscalene base was 0 to 21.0 mm with a mean of 10.7 mm. For the interscalene angle, the range was 4° to 22° with a mean of 11.3°. Measurements for the costoclavicular space ranged from 6 to 30.9 mm with a mean of 13.5 mm. No significant differences were observed between left and right interscalene triangles or costoclavicular spaces; furthermore, there were no differences between the sexes concerning these 2 locations. Copyright © 2012 National University of Health Sciences. Published by Mosby, Inc. All rights reserved.

Dissociations in mathematical knowledge: case studies in Down's syndrome and Williams syndrome.

PubMed

Robinson, Sally J; Temple, Christine M

2013-02-01

A study is reported of mathematical vocabulary and factual mathematical knowledge in PQ, a 22 year old with Down's syndrome (DS) who has a verbal mental age (MA) of 9 years 2 months and ST, a 15 year old with Williams syndrome (WS) who has a verbal MA of 9 years 6 months, matched to typically developing controls. The number of mathematical words contained within PQ's lexical stores was significantly reduced as reflected by performance on lexical decision. PQ was also impaired at both naming from descriptions and describing mathematical words. These results contrast with normal lexical decision and item descriptions for concrete words reported recently for PQ (Robinson and Temple, 2010). PQ's recall of mathematical facts was also impaired, whilst his recall of general knowledge facts was normal. This performance in DS indicates a deficit in both lexical representation and semantic knowledge for mathematical words and mathematical facts. In contrast, ST, the teenager with WS had good accuracy on lexical decision, naming and generating definitions for mathematical words. This contrasted with the atypical performance with concrete words recently reported for ST (Robinson and Temple, 2009). Knowledge of addition facts and general knowledge facts was also unimpaired for ST, though knowledge of multiplication facts was weak. Together the cases form a double dissociation and provide support for the distinct representation of mathematical and concrete items within the lexical-semantic system during development. The dissociations between mathematical and general factual knowledge also indicate that different types of factual knowledge may be selectively impaired during development. There is further support for a modular structure within which mathematical vocabulary and mathematical knowledge have distinct representations. This supports the case for the independent representation of factual and language-based knowledge within the semantic system during development. Copyright

The History of Parkinson's Disease: Early Clinical Descriptions and Neurological Therapies

PubMed Central

Goetz, Christopher G.

2011-01-01

Although components of possible Parkinson's disease can be found in very early documents, the first clear medical description was written in 1817 by James Parkinson. In the mid-1800s, Jean-Martin Charcot was particularly influential in refining and expanding this early description and in disseminating information internationally about Parkinson's disease. He separated Parkinson's disease from multiple sclerosis and other disorders characterized by tremor, and he recognized cases that later would likely be classified among the Parkinsonism-plus syndromes. Early treatments of Parkinson's disease were based on empirical observation, and anticholinergic drugs were used as early as the nineteenth century. The discovery of dopaminergic deficits in Parkinson's disease and the synthetic pathway of dopamine led to the first human trials of levodopa. Further historically important anatomical, biochemical, and physiological studies identified additional pharmacological and neurosurgical targets for Parkinson's disease and allow modern clinicians to offer an array of therapies aimed at improving function in this still incurable disease. PMID:22229124

Hoigne Syndrome Caused by Intralesional Meglumine Antimoniate

PubMed Central

Guarneri, Claudio; Tchernev, Georgi; Wollina, Uwe; Lotti, Torello

2017-01-01

Hoigne syndrome (HS) is the term coined to describe an acute, non-allergic, psychiatrically based reaction occurring with a wide list of medications, mainly antibiotics. Since its first description by Hoigne and Schoch in 1959, few cases have been reported in medical literature and, although antimicrobials are commonly used, very rarely in dermatology. The authors describe the first case occurred after intralesional administration of meglumine antimoniate and briefly discuss the pathogenetic hypotheses on this atypical adverse drug reaction. PMID:28785339

Le rôle du soutien parental dans la relation entre la victimisation homophobe, l’homophobie intériorisée et la détresse psychologique chez les jeunes de minorités sexuelles (JMS) : une approche de médiation modérée

PubMed Central

Bergeron, Félix-Antoine; Blais, Martin; Hébert, Martine

2016-01-01

Résumé Cet article explore le rôle modérateur du soutien parental dans les relations entre la victimisation homophobe, l’homophobie intériorisée et la détresse psychologique chez des jeunes de minorités sexuelles (JMS), que l’on dit aussi lesbiennes, gais, bisexuels ou en questionnement. Il vise à 1) documenter la prévalence des différentes formes de victimisation homophobe vécue par les JMS, et ce, selon le genre et l’âge et 2) à explorer l’effet modérateur du soutien parental dans la relation entre la victimisation homophobe, l’homophobie intériorisée et la détresse psychologique. Un échantillon de 228 JMS âgés de 14 à 22 ans, non exclusivement hétérosexuels, recrutés en milieu communautaire dans le cadre de l’enquête sur le Parcours Amoureux des Jeunes (PAJ) du Québec a été analysé. L’impact de la victimisation homophobe, du soutien parental, de l’homophobie intériorisée sur la détresse psychologique est exploré par un modèle de régression linéaire avec effets de médiation modérée. Le rôle modérateur du soutien parental est confirmé dans la relation entre la victimisation homophobe et la détresse psychologique. Ces variables peuvent constituer des leviers pour prévenir les effets négatifs des préjudices homophobes sur la santé mentale des JMS. PMID:26966851

[Behavioural phenotypes in Prader-Willi syndrome].

PubMed

Rosell-Raga, L

2003-02-01

The behavioural phenotype of Prader-Willi syndrome (PWS) is defined by a neurological profile and a characteristic pattern of behavioural disorders which include cognitive deficits, learning difficulties and behavioural problems, which increase with age, both in number and gravity. We review the behavioural phenotype of the cases of PWS in the Valencian Community, together with their peculiar behaviours, and analyse how these generate family and social problems. The description of a peculiar behaviour opens up new horizons when understanding and treating PWS, both from a pharmacological and neuropsychological perspective.

Alice in Wonderland Syndrome: A Historical and Medical Review.

PubMed

Farooq, Osman; Fine, Edward J

2017-12-01

Alice in Wonderland syndrome is a disorienting neurological condition that affects human perception to the senses of vision, hearing, touch, sensation, and the phenomenon of time. Individuals affected with Alice in Wonderland syndrome can experience alterations in their perception of the size of objects or their own body parts, known as metamorphopsias. It is known to occur in conditions including migraine, epilepsy, and certain intoxicants and infectious diseases. The name refers to Lewis Carrol's well-known children's book Alice's Adventures in Wonderland, in which the title character experiences alterations of sensation in which she felt that her body had grown too tall or too small, or parts of her body were changing shape, size, or relationship to the rest of her body. The syndrome was described in 1952 by Caro Lippman, and given its name in 1955 by John Todd. The metamorphopsias characteristic of this condition are also sometimes referred to as Lilliputian hallucinations, a reference to the fictional island of Lilliput in the novel Gulliver's Travels, written by Jonathan Swift in 1726. As such, many literary and medical publications have roots in the description of this syndrome. The purpose of this review is to summarize the literary and historical significance of Alice in Wonderland syndrome, as well as to provide the reader with a medical overview of the condition. Copyright © 2017 Elsevier Inc. All rights reserved.

Two French-Speaking Cases of Foreign Accent Syndrome: An Acoustic-Phonetic Analysis

ERIC Educational Resources Information Center

Roy, Johanna-Pascale; Macoir, Joel; Martel-Sauvageau, Vincent; Boudreault, Carol-Ann

2012-01-01

Foreign accent syndrome (FAS) is an acquired neurologic disorder in which an individual suddenly and unintentionally speaks with an accent which is perceived as being different from his/her usual accent. This study presents an acoustic-phonetic description of two Quebec French-speaking cases. The first speaker presents a perceived accent shift to…

Burnout syndrome in pediatric practice.

PubMed

Al-Youbi, Reem A; Jan, Mohammed M

2013-07-01

Burnout is a common work-related syndrome consisting of emotional exhaustion, depersonalization and diminished feelings of personal accomplishment. Burnout influences the performance and efficiency of the healthcare professionals and therefore the quality of the care provided. This study aims to assess the burnout rates and potential determinants in pediatrics. A cross-sectional, descriptive study involving physicians practicing pediatrics in the Jeddah area of Saudi Arabia was conducted utilizing the Maslach Burnout Inventory in addition to questions regarding work-related and lifestyle-related factors. One hundred and thirty pediatricians (55% females) were included with age ranging between 25 and 45 years (mean: 30). Most (46%) were consultants and 54% practiced in a university based setting. Burnout scores were abnormal in 107 (82%) and in 45 (34%) the syndrome was severe. Males were more likely to reach a severe burnout category compared to females (40% vs. 31%; p=0.012). Academic pediatricians working in a university setting were much more likely to experience severe burnout compared to their counterparts working in other hospitals (50% vs. 19%; p=0.0005). Consultants were also more likely to experience severe burnout compared to residents and assistants (46% vs. 27%; p=0.03). At least one third of practicing pediatricians suffer from burnout syndrome. Specific strategies should be developed and implemented to limit and prevent professional burnout.

Intraoperative navigation-guided resection of anomalous transverse processes in patients with Bertolotti's syndrome

PubMed Central

Babu, Harish; Lagman, Carlito; Kim, Terrence T.; Grode, Marshall; Johnson, J. Patrick; Drazin, Doniel

2017-01-01

Background: Bertolotti's syndrome is characterized by enlargement of the transverse process at the most caudal lumbar vertebra with a pseudoarticulation between the transverse process and sacral ala. Here, we describe the use of intraoperative three-dimensional image-guided navigation in the resection of anomalous transverse processes in two patients with Bertolotti's syndrome. Case Descriptions: Two patients diagnosed with Bertolotti's syndrome who had undergone the above-mentioned procedure were identified. The patients were 17- and 38-years-old, and presented with severe, chronic low back pain that was resistant to conservative treatment. Imaging revealed lumbosacral transitional vertebrae at the level of L5-S1, which was consistent with Bertolotti's syndrome. Injections of the pseudoarticulations resulted in only temporary symptomatic relief. Thus, the patients subsequently underwent O-arm neuronavigational resection of the bony defects. Both patients experienced immediate pain resolution (documented on the postoperative notes) and remained asymptomatic 1 year later. Conclusion: Intraoperative three-dimensional imaging and navigation guidance facilitated the resection of anomalous transverse processes in two patients with Bertolotti's syndrome. Excellent outcomes were achieved in both patients. PMID:29026672

Hearing rehabilitation in Treacher Collins Syndrome with bone anchored hearing aid

PubMed Central

Polanski, José Fernando; Plawiak, Anna Clara; Ribas, Angela

2015-01-01

Objective: To describe a case of hearing rehabilitation with bone anchored hearing aid in a patient with Treacher Collins syndrome. Case description: 3 years old patient, male, with Treacher Collins syndrome and severe complications due to the syndrome, mostly related to the upper airway and hearing. He had bilateral atresia of external auditory canals, and malformation of the pinna. The initial hearing rehabilitation was with bone vibration arch, but there was poor acceptance due the discomfort caused by skull compression. It was prescribed a model of bone-anchored hearing aid, in soft band format. The results were evaluated through behavioral hearing tests and questionnaires Meaningful Use of Speech Scale (MUSS) and Infant-Toddler Meaningful Auditory Integration Scale (IT-MAIS). Comments: The patient had a higher acceptance of the bone-anchored hearing aid compared to the traditional bone vibration arch. Audiological tests and the speech and auditory skills assessments also showed better communication and hearing outcomes. The bone-anchored hearing aid is a good option in hearing rehabilitation in this syndrome. PMID:26298651

Annular erythema in primary Sjogren's syndrome: description of 43 non-Asian cases.

PubMed

Brito-Zerón, P; Retamozo, S; Akasbi, M; Gandía, M; Perez-De-Lis, M; Soto-Cardenas, M-J; Diaz-Lagares, C; Kostov, B; Bove, A; Bosch, X; Perez-Alvarez, R; Siso, A; Ramos-Casals, M

2014-02-01

The objective of this paper is to evaluate the prevalence and characterize the main epidemiological, clinical and immunological features of annular erythema (AE) in non-Asian patients with primary Sjögren's syndrome (SS). We carried out a retrospective study searching for AE in 377 Spanish patients with primary SS fulfilling the 2002 American-European criteria. In addition, we searched PubMed (1994-2012) using the MeSH terms "annular erythema" and "primary Sjögren's syndrome" for additional cases. All cases with AE reported in patients with SS associated with systemic lupus erythematosus were excluded. In our Spanish cohort, we found 35 (9%) patients diagnosed with AE. All were white females, with a mean age of 47 years at diagnosis of AE. AE preceded diagnosis of SS in 27 (77%) patients. Cutaneous AE lesions involved principally the face and upper extremities. All patients reported photosensitivity, with cutaneous flares being reported during the warmest months in 93% of patients. Immunological markers consisted of anti-Ro/La antibodies in 31 (89%) patients. In the literature search, we identified eight additional non-Asian patients with primary SS diagnosed with AE. In comparison with 52 Asian patients, the 43 non-Asian patients with AE related to primary SS were more frequently women (100% vs 78%, p=0.008), and cutaneous lesions were less frequently reported in the face (55% vs 81%, p=0.045) and more frequently in the neck (40% vs 14%, p=0.041). Immunologically, non-Asian patients had a lower frequency of anti-Ro antibodies and a higher frequency of negative Ro/La antibodies, although the differences were not statistically significant. AE is not an exclusive cutaneous feature of Asian patients with primary SS. In addition to the characteristic cutaneous expression, AE has a very specific clinical and immunological profile: often presenting before the fulfillment of SS criteria, overwhelmingly associated with anti-Ro antibodies but weakly associated with other

Understanding Bartter syndrome and Gitelman syndrome.

PubMed

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.

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

PubMed

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.

Controversies in Poland Syndrome: Alternative Diagnoses in Patients With Congenital Pectoral Muscle Deficiency.

PubMed

Baas, Martijn; Burger, Elise B; Sneiders, Dimitri; Galjaard, Robert-Jan H; Hovius, Steven E R; van Nieuwenhoven, Christianne A

2018-02-01

Poland syndrome was first described as a deficiency of the pectoral muscle with ipsilateral symbrachydactyly. Currently, numerous case reports describe variations of Poland syndrome in which pectoral muscle deficiency is often used as the only defining criterion. However, more syndromes can present with pectoral muscle deficiency. The aim of this review is to illustrate the diversity of the phenotypic spectrum of Poland syndrome and to create more awareness for alternative diagnoses in pectoral muscle deficiency. A systematic literature search was performed. Articles containing phenotypical descriptions of Poland syndrome were included. Data extraction included number of patients, sex, familial occurrence, and the definition of Poland syndrome used. In addition, hand deformities, thoracic deformities, and other deformities in each patient were recorded. Alternative syndrome diagnoses were identified in patients with a combination of hand, thorax, and other deformities. One hundred-and-thirty-six articles were included, describing 627 patients. Ten different definitions of Poland syndrome were utilized. In 58% of the cases, an upper extremity deformity was found and 43% of the cases had an associated deformity. Classic Poland syndrome was seen in 29%. Fifty-seven percent of the patients with a pectoral malformation, a hand malformation, and another deformity had at least 1feature that matched an alternative syndrome. Pectoral muscle hypoplasia is not distinctive for Poland syndrome alone but is also present in syndromes with other associated anomalies with a recognized genetic cause. Therefore, in patients with an atypical phenotype, we recommend considering other diagnoses and/or syndromes before diagnosing a patient with Poland syndrome. This can prevent diagnostic and prognostic errors. Differentiating Poland syndrome from the alternative diagnoses has serious consequences for the patient and their family in terms of inheritance and possible related anomalies

Stability of Geriatric Syndromes in Hospitalized Medicare Beneficiaries Discharged to Skilled Nursing Facilities.

PubMed

Simmons, Sandra F; Bell, Susan; Saraf, Avantika A; Coelho, Chris S; Long, Emily A; Jacobsen, J M L; Schnelle, John F; Vasilevskis, Eduard E

2016-10-01

To assess multiple geriatric syndromes in a sample of older hospitalized adults discharged to skilled nursing facilities (SNFs) and subsequently to home to determine the prevalence and stability of each geriatric syndrome at the point of these care transitions. Descriptive, prospective study. One large university-affiliated hospital and four area SNFs. Fifty-eight hospitalized Medicare beneficiaries discharged to SNFs (N = 58). Research personnel conducted standardized assessments of the following geriatric syndromes at hospital discharge and 2 weeks after SNF discharge to home: cognitive impairment, depression, incontinence, unintentional weight loss, loss of appetite, pain, pressure ulcers, history of falls, mobility impairment, and polypharmacy. The average number of geriatric syndromes per participant was 4.4 ± 1.2 at hospital discharge and 3.8 ± 1.5 after SNF discharge. There was low to moderate stability for most syndromes. On average, participants had 2.9 syndromes that persisted across both care settings, 1.4 syndromes that resolved, and 0.7 new syndromes that developed between hospital and SNF discharge. Geriatric syndromes were prevalent at the point of each care transition but also reflected significant within-individual variability. These findings suggest that multiple geriatric syndromes present during a hospital stay are not transient and that most syndromes are not resolved before SNF discharge. These results underscore the importance of conducting standardized screening assessments at the point of each care transition and effectively communicating this information to the next provider to support the management of geriatric conditions. © 2016, Copyright the Authors Journal compilation © 2016, The American Geriatrics Society.

Stability of Geriatric Syndromes in Hospitalized Medicare Patients Discharged to Skilled Nursing Facilities

PubMed Central

Simmons, Sandra F.; Bell, Susan; Saraf, Avantika A.; Coelho, Chris Simon; Long, Emily A.; Jacobsen, J. Mary Lou; Schnelle, John F.; Vasilevskis, Eduard E.

2016-01-01

Objectives The purpose of this study was to assess multiple geriatric syndromes in a sample of older hospitalized patients discharged to skilled nursing facilities and, subsequently, to home to determine the prevalence and stability of each geriatric syndrome at the point of these care transitions. Design Descriptive, prospective study. Setting One large university-affiliated hospital and four area SNFs. Participants Fifty-eight hospitalized Medicare beneficiaries discharged to SNF. Measurements Research personnel conducted standardized assessments of the following geriatric syndromes at hospital discharge and two weeks following SNF discharge to home: cognitive impairment, depression, incontinence, unintentional weight loss, loss of appetite, pain, pressure ulcers, history of falls, mobility impairment and polypharmacy. Results The average number of geriatric syndromes per patient was 4.4 (± 1.2) at hospital discharge and 3.8 (±1.5) following SNF discharge. There was low to moderate stability for most syndromes. On average, participants had 2.9 syndromes that persisted across both care settings, 1.4 syndromes that resolved, and 0.7 new syndromes that developed between hospital and SNF discharge. Conclusion Geriatric syndromes were prevalent at the point of each care transition but also reflected significant within-individual variability. These findings suggest that multiple geriatric syndromes present during a hospital stay are not transient nor are most syndromes resolved prior to SNF discharge. These results underscore the importance of conducting standardized screening assessments at the point of each care transition and effectively communicating this information to the next provider to support the management of geriatric conditions. PMID:27590032

Down’s syndrome screening is unethical: views of today’s research ethics committees

PubMed Central

Reynolds, T M

2003-01-01

Background: Screening for Down’s syndrome forms part of routine obstetric practice. Ethical considerations relating to genetic screening form a major part of the workload of research ethics committees. This study investigated the attitudes of research ethics committee members to several conditions varying in clinical severity and prognosis, including Down’s syndrome. Methods: The members of 40 randomly chosen research ethics committees were surveyed. A simple questionnaire comprising 19 clinical scenarios based around four “clinical” conditions was designed to review conditions that were potentially embarrassing, affecting life span but not mental ability, premature death, and intellectual impairment with a risk of neonatal cardiac defects (Down’s syndrome). Screening tests with different degrees of effectiveness were described and the diagnostic test descriptions ranged from having no risk to an unaffected fetus to causing spontaneous abortion of two normal fetuses for each affected fetus identified. Replies were graded on a scale of 1 to 5. Results: Seventy seven replies were received from 28 different research ethics committees. Screening was supported for treatment of a life threatening condition (95% in favour) but screening for conditions of a slight increase in premature death (14% in favour) or cosmetic features (10% in favour) were considered unethical. Views were ambiguous (49% in favour) about conditions involving significant shortening of lifespan. Down’s syndrome screening was considered more ethical when described as a serious condition (56% in favour) than when the clinical features were described (44% in favour). Once increased rates of spontaneous abortion on confirmatory testing were added, 79% (21% in favour) and 86% (14% in favour) stated that screening was unethical (for “serious” and “clinical features” descriptions, respectively). Conclusions: Down’s syndrome screening raises ethical concerns about genetic testing in

Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature.

PubMed

Antony, Dinu; Nampoory, Narayanan; Bacchelli, Chiara; Melhem, Motasem; Wu, Kaman; James, Chela T; Beales, Philip L; Hubank, Mike; Thomas, Daisy; Mashankar, Anant; Behbehani, Kazem; Schmidts, Miriam; Alsmadi, Osama

2017-12-01

Exome sequencing is becoming widely popular and affordable, making it one of the most desirable methods for the identification of rare genetic variants for clinical diagnosis. Here, we report the clinical application of whole exome sequencing for the ultimate diagnosis of a ciliary chondrodysplasia case presented with an initial clinical diagnosis of Asphyxiating Thoracic Dystrophy (ATD, Jeune Syndrome). We have identified a novel homozygous missense mutation in WDR35 (c.206G > A), a gene previously associated with Sensenbrenner Syndrome, Ellis-van Creveld syndrome and Short-rib polydactyly syndrome type V. The genetic findings in this family led to the re-evaluation of the initial diagnosis and a differential diagnosis of Sensenbrenner Syndrome was made after cautious re-examination of the patient. Cell culture studies revealed normal subcellular localization of the mutant WDR35 protein in comparison to wildtype protein, pointing towards impaired protein-protein interaction and/or altered cell signaling pathways as a consequence of the mutated allele. This research study highlights the importance of including pathogenic variant identification in the diagnosis pipeline of ciliary chondrodysplasias, especially for clinically not fully defined phenotypes. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

Advances in understanding behavioral phenotypes in neurogenetic syndromes.

PubMed

Harris, James C

2010-11-15

Syndrome-specific behavior was proposed by Langdon Down in his first clinical descriptions. Research interest followed but waned during the eugenics era when antisocial behavior was attributed to people with intellectual disability (ID) and the US Supreme Court legalized involuntary sterilization. When these claims were refuted and behavioral treatments introduced, their focus on environmental determination minimized the importance of biological research. The modern era began with the recognition that patterned behavior, for example, self-injury in Lesch-Nyhan syndrome and hyperphagia in PWS, was syndrome-specific, and when parent support groups pointed out syndrome-specific behavioral similarities in their children. Syndrome-specific rating scales and methodologies followed to allow behavioral comparisons between syndromes. The focus initially was on specific behaviors but with refinements in neuropsychological tests has expanded to include neurocognitive profiles. Greater clarification in genetic diagnoses has led to mutant mouse behavioral models and neurophysiologic and neuroimaging strategies have made possible the study of brain circuits. There is growing interest in investigating the developmental trajectory of behaviors from infancy to adulthood and old age. Because anxiety, mood disturbance, repetitive behaviors, and social deficits commonly occur in people with severe ID, those affected are often given multiple psychiatric diagnoses. This has led to considerable confusion in the literature. It is critical to focus on specific behaviors and cognitive patterns in research and not confuse psychiatric symptoms that lack precise definitions and involve multiple genes, the so-called psychiatric phenotype, with the more specific behavioral phenotype. New treatments based on knowledge of underlying neurobiology call for more fine-grained definition of behavior. © 2010 Wiley-Liss, Inc.

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

PubMed

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

2017-04-01

The term "cluster-tic syndrome" is used for the rare ipsilateral co-occurrence of attacks of cluster headache and trigeminal neuralgia. Medical treatment should combine treatment for cluster headache and trigeminal neuralgia, but is very often unsatisfactory. Here, we describe a 41-year-old woman diagnosed with cluster-tic syndrome who underwent microvascular decompression of the trigeminal nerve, primarily aimed at the "trigeminal neuralgia" part of her pain syndrome. After venous decompression of the trigeminal nerve both a decrease in trigeminal neuralgia and cluster headache attacks was seen. However, the headache did not disappear completely. Furthermore, she reported a decrease in pain intensity of the remaining cluster headache attacks. This case description suggests that venous vascular decompression in cluster-tic syndrome can be remarkably effective, both for trigeminal neuralgia and cluster headache. © 2016 American Headache Society.

Toxicological evaluation of two children diagnosed as Munchausen syndrome by proxy.

PubMed

Türkmen, Zeynep; Ziyalar, Neylan; Tari, Itir; Mercan, Selda; Kayiran, Sinan Mahir; Sener, Dicle; Cengiz, Salih; Akçakaya, Necla

2012-01-01

Munchausen syndrome by proxy is a kind of child abuse in which affected children are often hospitalized for long periods and endure repetitive, painful and expensive diagnostic attempts. We present herein two toxicologically confirmed cases of Munchausen syndrome by proxy. Case 1 is a 16-month-old male who had fever, peripheral cyanosis, tremor, and reported cardiac arrest. Symptoms recurred in the hospital when the mother administered fluids. Toxicology detected 3.5 ng/ml mercury (Hg) in the fluid and 9.4 microg Hg/g creatinine in the urine. Case 2 is a 14-year-old female who had irregular blood findings and multiple hospitalizations. Serum analysis detected warfarin. Both mothers were transferred to psychiatric care. Munchausen syndrome by proxy should be suspected when clinical/laboratory findings are negative, illness descriptions are inconsistent, and frequent hospitalization yields no diagnosis. Psychiatric evaluation and toxicological analysis are recommended.

Kabuki syndrome in a girl with mosaic 45,X/47,XXX and aortic coarctation.

PubMed

Chen, Chih-Ping; Lin, Shuan-Pei; Tsai, Fuu-Jen; Chern, Schu-Rern; Wang, Wayseen

2008-06-01

To describe the clinical findings of a patient with mosaic 45,X/47,XXX and aortic coarctation. Descriptive case study. Tertiary medical center. A 6-year-old girl with stigmata of Turner syndrome, aortic coarctation, patent ductus arteriosus, and a peculiar facial appearance. None. Cytogenetic analysis. The patient manifested a characteristic Kabuki syndrome facial appearance with long palpebral fissures, everted lateral third of lower eyelids, arched eyebrows, a depressed nasal tip, large dysplastic ears and epicanthic folds. She had undergone cardiac surgery for treatment of aortic coarctation and patent ductus arteriosus. Cytogenetic analysis of the blood lymphocytes revealed a karyotype of mos 45,X,9ph [35 cells]/47,XXX,9ph [5 cells]. This is the first report of mosaic 45,X/47,XXX associated with Kabuki syndrome. We emphasize that Kabuki syndrome, a peculiar facial appearance and aortic coarctation, should be considered in girls with sex chromosome abnormalities.

Prevalence of dry eye syndrome in residents of surgical specialties.

PubMed

Castellanos-González, José Alberto; Torres-Martínez, Verónica; Martínez-Ruiz, Adriana; Fuentes-Orozco, Clotilde; Rendón-Félix, Jorge; Irusteta-Jiménez, Leire; Márquez-Valdez, Aída Rebeca; Cortés-Lares, José Antonio; González-Ojeda, Alejandro

2016-07-16

The aim of this study was to determine the prevalence and severity of dry eye syndrome in a group of Mexican residents of different surgical specialties. A cross-sectional descriptive study where the residents were studied using the Ocular Surface Disease Index, together with diagnostic tests for dry eye syndrome, such as tear breakup time, Oxford Schema, Schirmer's test I, and meibomian gland dysfunction testing. Statistical analyses were performed by Pearson's chi-squared test for categorical variables and student's t-test for quantitative variables. Any P value < 0.05 was considered statistically significant. One hundred and twenty-three residents were included (246 eyes); 90 (73 %) were male and 33 (27 %) were female. The mean age was 27.8 ± 2.1 years. A higher number of residents with dry eye syndrome was found in the cardiothoracic surgery (75 %) and otorhinolaryngology (71 %) specialties; 70 % of them reported ocular symptoms, with teardrop quality involvement in >50 % of them. We found a prevalence of 56 % for mild-to-moderate/severe stages of the condition. Their presence in the operating room predisposes surgical residents to dry eye syndrome because of environmental conditions.

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

PubMed

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.

Neurobiology of the premonitory urge in Tourette syndrome: Pathophysiology and treatment implications

PubMed Central

Cavanna, Andrea E.; Black, Kevin J; Hallett, Mark; Voon, Valerie

2017-01-01

Motor and vocal tics are relatively common motor manifestations identified as the core features of Tourette syndrome. Although traditional descriptions have focused on objective phenomenological observations, such as anatomical location, number and frequency of tics, patients’ first-person accounts have consistently reported characteristic subjective correlates. These sensory phenomena are often described as a feeling of mounting inner tension or urge to move (“premonitory urge”), which is transiently relieved by tic expression. This paper reviews the existing literature on the clinical and neurobiological aspects of the premonitory urge in patients with Tourette syndrome, with focus on its pathophysiology and possible treatment implications. PMID:28121259

[Münchausen syndrome by proxy in a forensic psychiatric evaluation--the description of a case and ethical controversy].

PubMed

Heitzman, Janusz; Opio, Małgorzata; Ruzikowska, Alfreda; Pilszyk, Anna

2012-01-01

Presentation of the difficulties in diagnosing Münchausen syndrome by proxy. Comparison of four different conclusions in forensic psychiatric opinions issued in one case, due to the need of answering to the questions of the court, in what periods and why was the deterioration of the child's health, in connection with an allegation that the mother has acted to his detriment. In the first medical-legal opinion the treating physician, while being the head of the ward and the person informing the police of the action against a child by the mother, recognised Münchausen syndrome by proxy. The second opinion was delivered by a psychologist, who stated that the mother distinguished the introspective attitude characterised by excessive, exaggerated accuracy, thoroughness, and did not give a unambiguous answer to the questions of the court. In the third opinion the experts accepted that the functioning of the subject does not create a threat to life and health of the child. The fourth opinion developed by the authors of this paper noted that in the analysed medical records of the childs' hospitalisation, no arguments were found to recognise Münchausen syndrome by proxy. RESULTS. In the conducted extended ambulant study of the subject and the analysis of the medical documentation of the 31 hospitalisations of the child showed that the improvement of the child's health was not associated in exclusion of pushing aside the mother from the child, but was the result of the consistency of the therapeutic treatment team, the continuation and the modification of the treatment. In appointing the expert, the art. 196 of the Code of Criminal Procedure should be considered, which states that the expert should not be the treating doctor, because his opinion loses value impartiality. Diagnosis of Münchausen Syndrome by proxy itself stirs up numerous controversies..

A guide to diagnosis and treatment of Leigh syndrome.

PubMed

Baertling, Fabian; Rodenburg, Richard J; Schaper, Jörg; Smeitink, Jan A; Koopman, Werner J H; Mayatepek, Ertan; Morava, Eva; Distelmaier, Felix

2014-03-01

Leigh syndrome is a devastating neurodegenerative disease, typically manifesting in infancy or early childhood. However, also late-onset cases have been reported. Since its first description by Denis Archibald Leigh in 1951, it has evolved from a postmortem diagnosis, strictly defined by histopathological observations, to a clinical entity with indicative laboratory and radiological findings. Hallmarks of the disease are symmetrical lesions in the basal ganglia or brain stem on MRI, and a clinical course with rapid deterioration of cognitive and motor functions. Examinations of fresh muscle tissue or cultured fibroblasts are important tools to establish a biochemical and genetic diagnosis. Numerous causative mutations in mitochondrial and nuclear genes, encoding components of the oxidative phosphorylation system have been described in the past years. Moreover, dysfunctions in pyruvate dehydrogenase complex or coenzyme Q10 metabolism may be associated with Leigh syndrome. To date, there is no cure for affected patients, and treatment options are mostly unsatisfactory. Here, we review the most important clinical aspects of Leigh syndrome, and discuss diagnostic steps as well as treatment options.

Communication in Young Children with Fragile X Syndrome: A Qualitative Study of Mothers' Perspectives

ERIC Educational Resources Information Center

Brady, Nancy; Skinner, Debra; Roberts, Joanne; Hennon, Elizabeth

2006-01-01

Purpose: To provide descriptive and qualitative information about communication in young children with fragile X syndrome (FXS) and about how families react to and accommodate communication differences in their children. Method: In-depth interviews were conducted with 55 mothers of young children with FXS. Interviewers asked mothers to describe…

Brief Report: Major Depressive Disorder with Psychotic Features in Williams Syndrome--A Case Series

ERIC Educational Resources Information Center

Valdes, Francisca; Keary, Christopher J.; Mullett, Jennifer E.; Palumbo, Michelle L.; Waxler, Jessica L.; Pober, Barbara R.; McDougle, Christopher J.

2018-01-01

Descriptions of individuals with Williams syndrome (WS) and co-morbid major depressive disorder (MDD) with psychotic features have not appeared in the literature. In addition to reviewing previous reports of psychotic symptoms in persons with WS, this paper introduces clinical histories and therapeutic management strategies for three previously…

Causes of death in Prader-Willi syndrome: Prader-Willi Syndrome Association (USA) 40-year mortality survey.

PubMed

Butler, Merlin G; Manzardo, Ann M; Heinemann, Janalee; Loker, Carolyn; Loker, James

2017-06-01

Prader-Willi syndrome (PWS) is a rare, complex, neurodevelopmental genetic disorder that is associated with hyperphagia and morbid obesity in humans and leads to a shortened life expectancy. This report summarizes the primary causes of death and evaluates mortality trends in a large cohort of individuals with PWS. The US Prader-Willi Syndrome Association (PWSA (USA)) syndrome-specific database of death reports was collected through a cursory bereavement program for PWSA (USA) families using a brief survey created in 1999. Causes of death were descriptively characterized and statistically examined using Cox proportional hazards. A total of 486 deaths were reported (263 males, 217 females, 6 unknown) between 1973 and 2015, with mean age of 29.5 ± 16 years (2 months-67 years); 70% occurred in adulthood. Respiratory failure was the most common cause, accounting for 31% of all deaths. Males were at increased risk for presumed hyperphagia-related accidents/injuries and cardiopulmonary factors compared to females. PWS maternal disomy 15 genetic subtype showed an increased risk of death from cardiopulmonary factors compared to the deletion subtype. These findings highlight the heightened vulnerability to obesity and hyperphagia-related mortality in PWS. Future research is needed to address critical vulnerabilities such as gender and genetic subtype in the cause of death in PWS.Genet Med advance online publication 17 November 2016.

Description of the Motor Development of 3-12 Month Old Infants with Down Syndrome: The Influence of the Postural Body Position

ERIC Educational Resources Information Center

Tudella, Eloisa; Pereira, Karina; Basso, Renata Pedrolongo; Savelsbergh, Geert J. P.

2011-01-01

The purpose of the present study was to describe the rate of motor development in infants with Down syndrome in the age range of 3-12 months and identify the difficulties both in performance and acquiring motor skills in prone, supine, sitting and standing positions. Nineteen infants with Down syndrome and 25 healthy full term typical infants were…

Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency.

PubMed

Stephen, Joshi; Vilboux, Thierry; Mian, Luhe; Kuptanon, Chulaluck; Sinclair, Courtney M; Yildirimli, Deniz; Maynard, Dawn M; Bryant, Joy; Fischer, Roxanne; Vemulapalli, Meghana; Mullikin, James C; Huizing, Marjan; Gahl, William A; Malicdan, May Christine V; Gunay-Aygun, Meral

2017-04-01

Joubert syndrome and related disorders (JSRD) are a heterogeneous group of ciliopathies defined based on the mid-hindbrain abnormalities that result in the characteristic "molar tooth sign" on brain imaging. The core clinical findings of JSRD are hypotonia, developmental delay, abnormal eye movements and breathing abnormalities. To date, more than 30 JSRD genes that encode proteins important for structure and/or function of cilia have been identified. Here, we present 2 siblings with Joubert syndrome associated with growth hormone deficiency. Whole exome sequencing of the family identified compound heterozygous mutations in KIAA0753, i.e., a missense mutation (p.Arg257Gly) and an intronic mutation (c.2359-1G>C). The intronic mutation alters normal splicing by activating a cryptic acceptor splice site in exon 16. The novel acceptor site skips nine nucleotides, deleting three amino acids from the protein coding frame. KIAA0753 (OFIP) is a centrosome and pericentriolar satellite protein, previously not known to cause Joubert syndrome. We present comprehensive clinical descriptions of the Joubert syndrome patients as well as the cellular phenotype of defective ciliogenesis in the patients' fibroblasts.

History and First Descriptions of Autism: Asperger Versus Kanner Revisited.

PubMed

Chown, Nick; Hughes, Liz

2016-06-01

When reading Michael Fitzgerald's chapter entitled 'Autism: Asperger's Syndrome-History and First Descriptions' in 'Asperger's Disorder' edited by Rausch, Johnson and Casanova, a while ago, one of us was struck by his contention that Kanner was guilty of plagiarism as well as non-attribution of Asperger's 1938 paper 'Das psychisch abnorme kind' (Fitzgerald in Asperger's disorder. Informa Healthcare, New York, 2008) published in a Vienna weekly. Steve Silberman has discovered evidence that Kanner rescued Asperger's chief diagnostician from the Nazis in 1944 so must have been aware of Asperger's work and conclusions. Fitzgerald was on the right track but it appears that Kanner may have plagiarised Asperger's ideas rather than his 1938 paper.

Metabolic syndrome in mental health and addiction treatment: a quantitative study.

PubMed

Flynn, M; Houtjes, W; Merks, A; van Mierlo, A; van de Wetering, B

2015-02-01

Patients with mental illnesses have been found to shorter life expectancy due to an increased risk of heart disease. Some medication used to treat mental illnesses have been linked to weight gain and other physical change that make patients susceptible to heart disease. In order to reduce this risk it is important that health professionals regularly measure and monitor signs of these physical changes. This research has found that measuring both waist circumference and blood pressure of patients is a safe and reliable way to way to monitor patients. To identify if combined blood pressure and waist circumference measurements are reliable predictor of metabolic syndrome, a descriptive correlational design was used to examine the sensitivity and specificity of screening techniques used to detect metabolic syndrome. Data were collected regarding waist circumference, body mass index, blood pressure, fasting blood glucose, triglycerides and high-density lipoproteins. Blood pressure and waist circumference measurements demonstrated high significance, sensitivity and specificity as screening instruments for metabolic syndrome. Combined waist circumference and blood pressure measurements may be clinically useful for a quick and reliable detection of metabolic syndrome in patients with addiction and comorbid mental health problems. © 2014 John Wiley & Sons Ltd.

Aniridia and Brachmann-de Lange syndrome: a review of ocular surface and anterior segment findings.

PubMed

Lee, W Barry; Brandt, James D; Mannis, Mark J; Huang, Charles Q; Rabin, Gregory J

2003-03-01

To review the ocular surface and anterior segment findings in Brachmann-de Lange syndrome and describe a new case involving aniridia and congenital glaucoma. A newborn presented 2 days after birth with bilateral cloudy corneas, photophobia, and epiphora. We provide a 5-year descriptive history and clinical course with review of the literature on Brachmann-de Lange syndrome. Multiple ocular surgeries were performed for ocular sequelae from aniridia and congenital glaucoma including Ahmed valve placement and penetrating keratoplasties in both eyes. At 5.5 years of age, the child had a clear graft OD and amblyopia from graft failure OS following recurrent graft infections. A review of Brachmann-de Lange syndrome found 43 patients with ocular surface and anterior segment findings. The most common findings included conjunctivitis, blepharitis, microcornea, and corectopia. Aniridia and congenital glaucoma were not previously reported with Brachmann-de Lange syndrome. Ocular surface and anterior segment abnormalities must be considered when examining patients with Brachmann-de Lange syndrome. Ocular findings may include vision-threatening anomalies, as in our case with aniridia and congenital glaucoma. To our knowledge, these findings are previously unreported in Brachmann-de Lange syndrome.

The developmental trajectory of disruptive behavior in Down syndrome, fragile X syndrome, Prader-Willi syndrome and Williams syndrome.

PubMed

Rice, Lauren J; Gray, Kylie M; Howlin, Patricia; Taffe, John; Tonge, Bruce J; Einfeld, Stewart L

2015-06-01

The aim of this study was to investigate the developmental trajectories of verbal aggression, physical aggression, and temper tantrums in four genetic syndrome groups. Participants were part of the Australian Child to Adult Development Study (ACAD), which collected information from a cohort of individuals with an intellectual disability at five time points over 18 years. Data were examined from a total of 248 people with one of the four following syndromes: Down syndrome, Fragile X syndrome, Prader-Willi syndrome, or Williams syndrome. Changes in behaviors were measured using validated items from the Developmental Behavior Checklist (DBC). The results indicate that, while verbal aggression shows no evidence of diminishing with age, physical aggression, and temper tantrums decline with age before 19 years for people with Down syndrome, Fragile X syndrome, and William syndrome; and after 19 years for people with Prader-Willi syndrome. These findings offer a somewhat more optimistic outlook for people with an intellectual disability than has previously been suggested. Research is needed to investigate the mechanisms predisposing people with PWS to persistence of temper tantrums and physical aggression into adulthood. © 2015 Wiley Periodicals, Inc.

Hemorrhagic Fever with Renal Syndrome in the New, and Hantavirus Pulmonary Syndrome in the Old World: paradi(se)gm lost or regained?

PubMed

Clement, Jan; Maes, Piet; Van Ranst, Marc

2014-07-17

Since the first clinical description in 1994 of the so-called "Hantavirus Pulmonary Syndrome" (HPS) as a "newly recognized disease", hantavirus infections have always been characterized as presenting in two distinct syndromes, the so-called "Hemorrhagic Fever with Renal Syndrome" (HFRS) in the Old World, with the kidney as main target organ, in contrast to HPS in the New World, with the lung as main target organ. However, European literature mentions already since 1934 a mostly milder local HFRS form, aptly named "nephropathia epidemica" (NE), and caused by the prototype European hantavirus species Puumala virus (PUUV). Several NE reports dating from the 1980s and early 1990s described already non-cardiogenic HPS-like lung involvement, prior to any kidney involvement, and increasing evidence is now mounting that a considerable clinical overlap exists between HPS and HFRS. Moreover, growing immunologic insights point to common pathologic mechanisms, leading to capillary hyperpermeability, the cardinal feature of all hantavirus infections, both of the New and Old World. It is now perhaps time to reconsider the paradigm of two "different" syndromes caused by viruses of the same Hantavirus genus in the same Bunyaviridae family, and to agree on a common, more logical disease denomination, such as simply and briefly "Hantavirus fever". Copyright © 2014 Elsevier B.V. All rights reserved.

Management of swallowing and communication difficulties in Down syndrome: A survey of speech-language pathologists.

PubMed

Meyer, Carly; Theodoros, Deborah; Hickson, Louise

2017-02-01

To explore speech pathology services for people with Down syndrome across the lifespan. Speech-language pathologists (SLPs) working in Australia were invited to complete an online survey, which enquired about the speech pathology services they had provided to client/s with Down syndrome in the past 12 months. The data were analysed using descriptive statistics. A total of 390 SLPs completed the survey; 62% reported seeing a client with Down syndrome in the past 12 months. Most commonly, SLPs provided assessment and individual intervention for communication with varying levels of family involvement. The areas of dysphagia and/or communication addressed by SLPs, or in need of more services differed according to the age of the person with Down syndrome. SLPs reported a number of reasons why services were restricted. There is a need to re-assess the way that SLPs currently provide services to people with Down syndrome. More research is needed to develop and evaluate treatment approaches that can be used to better address the needs of this population.

COL4A4 gene study of a European population: description of new mutations causing autosomal dominant Alport syndrome.

PubMed

Rosado, Consolación; Bueno, Elena; Felipe, Carmen; González-Sarmiento, Rogelio

2014-01-01

Autosomal forms of Alport syndrome represent 20% of all patients (15% recessive and 5% dominant). They are caused by mutations in the COL4A3 and COL4A4 genes, which encode a-3 and a-4 collagen IV chains of the glomerular basement membrane, cochlea and eye. Thin basement membrane nephropathy may affect up to 1% of the population. The pattern of inheritance in the 40% of cases is the same as autosomal dominant Alport syndrome: heterozygous mutations in these genes. The aim of this study is to detect new pathogenic mutations in the COL4A4 gene in the patients previously diagnosed with autosomal Alport syndrome and thin basement membrane nephropathy in our hospital. We conducted a clinical and genetic study in eleven patients belonging to six unrelated families with aforementioned clinical symptoms and a negative study of COL4A3 gene. The molecular study was made by conformation of sensitive gel electrophoresis (CSGE) and direct sequencing of the fragments that show an altered electrophoretic migration pattern. We found two pathogenic mutations, not yet described: IVS3 + 1G > C is a replacement of Guanine to Cytosine in position +1 of intron 3, in the splicing region, which leads to a pathogenic mutation. c.4267C > T; p.P1423S is a missense mutation, also considered pathogenic. We also found seven new polymorphisms. We describe two new pathogenic mutations, responsible for autosomal dominant Alport syndrome. The other families of the study were undiagnosed owing to problems in the method employed and the possibility of mutations in other genes, giving rise to other diseases with similar symptoms.

The metabolic syndrome in polycystic ovary syndrome.

PubMed

Essah, P A; Nestler, J E

2006-03-01

Much overlap is present between the polycystic ovary syndrome (PCOS) and the metabolic syndrome. This article reviews the existing data regarding the prevalence, characteristics, and treatment of the metabolic syndrome in women with PCOS. The prevalence of the metabolic syndrome in PCOS is approximately 43-47%, a rate 2-fold higher than that for women in the general population. High body mass index and low serum HDL cholesterol are the most frequently occurring components of the metabolic syndrome in PCOS. The pathogenic link between the metabolic syndrome and PCOS is most likely insulin resistance. Therefore, the presence of the metabolic syndrome in PCOS suggests a greater degree of insulin resistance compared to PCOS without the metabolic syndrome. Obesity, atherogenic dyslipidemia, hypertension, impaired fasting glucose/impaired glucose tolerance, and vascular abnormalities are all common metabolic abnormalities present in PCOS. Lifestyle modification has proven benefit and pharmacological therapy with insulin-sensitizing agents has potential benefit in the treatment of the metabolic syndrome in women with PCOS.

Obesity and metabolic syndrome in COPD: Is exercise the answer?

PubMed

James, Benjamin D; Jones, Amy V; Trethewey, Ruth E; Evans, Rachael A

2018-05-01

Approximately half of all patients with chronic obstructive pulmonary disease (COPD) attending pulmonary rehabilitation (PR) programmes are overweight or obese which negatively impacts upon dyspnoea and exercise tolerance particularly when walking. Within the obese population (without COPD), the observed heterogeneity in prognosis is in part explained by the variability in the risk of developing cardiovascular disease or diabetes (cardiometabolic risk) leading to the description of metabolic syndrome. In obesity alone, high-intensity aerobic training can support healthy weight loss and improve the constituent components of metabolic syndrome. Those with COPD, obesity and/or metabolic syndrome undergoing PR appear to do as well in traditional outcomes as their normal-weight metabolically healthy peers in terms of improvement of symptoms, health-related quality of life and exercise performance, and should therefore not be excluded. To broaden the benefit of PR, for this complex population, we should learn from the extensive literature examining the effects of exercise in obesity and metabolic syndrome discussed in this review and optimize the exercise strategy to improve these co-morbid conditions. Standard PR outcomes could be expanded to include cardiometabolic risk reduction to lower future morbidity and mortality; to this end exercise may well be the answer.

Obesity and metabolic syndrome in COPD: Is exercise the answer?

PubMed Central

James, Benjamin D; Jones, Amy V; Trethewey, Ruth E; Evans, Rachael A

2017-01-01

Approximately half of all patients with chronic obstructive pulmonary disease (COPD) attending pulmonary rehabilitation (PR) programmes are overweight or obese which negatively impacts upon dyspnoea and exercise tolerance particularly when walking. Within the obese population (without COPD), the observed heterogeneity in prognosis is in part explained by the variability in the risk of developing cardiovascular disease or diabetes (cardiometabolic risk) leading to the description of metabolic syndrome. In obesity alone, high-intensity aerobic training can support healthy weight loss and improve the constituent components of metabolic syndrome. Those with COPD, obesity and/or metabolic syndrome undergoing PR appear to do as well in traditional outcomes as their normal-weight metabolically healthy peers in terms of improvement of symptoms, health-related quality of life and exercise performance, and should therefore not be excluded. To broaden the benefit of PR, for this complex population, we should learn from the extensive literature examining the effects of exercise in obesity and metabolic syndrome discussed in this review and optimize the exercise strategy to improve these co-morbid conditions. Standard PR outcomes could be expanded to include cardiometabolic risk reduction to lower future morbidity and mortality; to this end exercise may well be the answer. PMID:29117797

A comprehensive assessment of cognitive function in the common genetic generalized epilepsy syndromes.

PubMed

Loughman, A; Bowden, S C; D'Souza, W J

2017-03-01

Considered to be benign conditions, the common genetic generalized epilepsy (GGE) syndromes are now known to be frequently accompanied by cognitive dysfunction. However, unresolved issues impede clinical management of this common comorbidity, including which cognitive abilities are most affected, whether there are differences between syndromes and how seizure type and mood symptoms affect cognitive dysfunction. We provide a detailed description of cognitive ability and evaluate factors contributing to cognitive dysfunction. A total of 76 adults with GGE were assessed with the Woodcock Johnson III Tests of Cognitive Abilities. Scores on tests of overall cognitive ability, acquired knowledge, long-term retrieval and speed of information processing were significantly below the normative mean. Long-term retrieval was a pronounced weakness with a large reduction in scores (d = 0.84). GGE syndrome, seizure type and the presence of recent psychopathology symptoms were not significantly associated with cognitive function. This study confirms previous meta-analytic findings with a prospective study, offers new insights into the cognitive comorbidity of these common epilepsy syndromes and reinforces the need for cognitive interventions in people with GGE. © 2016 EAN.

Distinguishing Features and Similarities Between Descriptive Phenomenological and Qualitative Description Research.

PubMed

Willis, Danny G; Sullivan-Bolyai, Susan; Knafl, Kathleen; Cohen, Marlene Z

2016-09-01

Scholars who research phenomena of concern to the discipline of nursing are challenged with making wise choices about different qualitative research approaches. Ultimately, they want to choose an approach that is best suited to answer their research questions. Such choices are predicated on having made distinctions between qualitative methodology, methods, and analytic frames. In this article, we distinguish two qualitative research approaches widely used for descriptive studies: descriptive phenomenological and qualitative description. Providing a clear basis that highlights the distinguishing features and similarities between descriptive phenomenological and qualitative description research will help students and researchers make more informed choices in deciding upon the most appropriate methodology in qualitative research. We orient the reader to distinguishing features and similarities associated with each approach and the kinds of research questions descriptive phenomenological and qualitative description research address. © The Author(s) 2016.

"Serpentine-like syndrome"-A very rare multiple malformation syndrome characterised by brachioesophagus and vertebral anomalies.

PubMed

Beleza-Meireles, Ana; Steenhaut, Patricia; Hocq, Catheline; Clapuyt, Philippe; Bernard, Pierre; Debauche, Christian; Sznajer, Yves

2017-02-01

"Serpentine-like syndrome" is a severe and rare association of multiple congenital malformations, characterised by brachioesophagus, secondary intrathoracic stomach, and vertebral anomalies. Other associated anomalies have been described, such as malposition and herniation of abdominal organs. We report the natural history of a baby girl born at 29 weeks of gestation with intra uterine growth restriction, short neck, large rachischisis from cervical to thoracic spine, a very short oesophagus, thoracic stomach associated with a midline diaphragmatic hernia, malrotated gut and median cleft lip. Most of these anomalies were detected antenatally. Molecular karyotype was normal. She died at age 12 days. To our knowledge, the present patient represents the 8th report of a case of "Serpentine-like syndrome". Brachioesophagus and congenital vertebral anomalies, in particular rachischisis, are the cardinal features of this condition. All reported cases have been sporadic and the cause is still unknown. We believe that the specificity of the presentation as well as the similarities between available descriptions of patients suggests a common, yet to identify, molecular cause, possibly involving a developmental "toolkit"/homeobox gene or related pathways. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

A single VLSI chip for computing syndromes in the (225, 223) Reed-Solomon decoder

NASA Technical Reports Server (NTRS)

Hsu, I. S.; Truong, T. K.; Shao, H. M.; Deutsch, L. J.

1986-01-01

A description of a single VLSI chip for computing syndromes in the (255, 223) Reed-Solomon decoder is presented. The architecture that leads to this single VLSI chip design makes use of the dual basis multiplication algorithm. The same architecture can be applied to design VLSI chips to compute various kinds of number theoretic transforms.

Loin Pain Haematuria Syndrome - A Narrative Review of Pain Management Strategies

PubMed Central

2016-01-01

Loin pain haematuria syndrome (LPHS) is an uncommon clinical entity that has divided renal physicians, pain practitioners, and even psychiatrists since its initial description. A relative paucity of data exists regarding the condition, with best practice guidelines lacking amid the existing threads of anecdotal experiences and variable follow-up observations. The aim of this article was to review the cumulative published experience of pain relief strategies for LPHS. PMID:27103962

Morell Mackenzie's Contribution to the Description of Spasmodic Dysphonia.

PubMed

Lorch, Marjorie Perlman; Whurr, Renata

2016-12-01

Since the middle of the 20th century, most discussions of spasmodic dysphonia (SD) reference a paper by Ludwig Traube published in1871 as the first historical citation, crediting him with priority for this clinical syndrome. However, our recent research has determined that the original observation by Traube was published in 1864 and does not in fact describe what is currently recognized as SD. It appears that many clinics throughout Europe and North America were investigating and publishing observations on a range of voice disorders. The wider context of work on laryngeal disorders in the 1860s-1870s is considered. One of Traube's contemporaries, Morell Mackenzie, made significant contributions to the understanding of laryngeal movement disorder and its consequences for the voice. These will be examined to gain a clearer focus on the characterization of this disorder. The clinical descriptions published by Morrell Mackenzie in the 1860s provide details that conform quite closely to our current-day understanding of SD. The citation of Traube's "hysterical" patient links to mid 20th-century views of the functional nature of SD and the utility of psychiatric treatment. The description presented by Mackenzie is consistent with current views of SD as a movement disorder. © The Author(s) 2016.

Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy.

PubMed

Savige, Judy; Gregory, Martin; Gross, Oliver; Kashtan, Clifford; Ding, Jie; Flinter, Frances

2013-02-01

Few prospective, randomized controlled clinical trials address the diagnosis and management of patients with Alport syndrome or thin basement membrane nephropathy. Adult and pediatric nephrologists and geneticists from four continents whose clinical practice focuses on these conditions have developed the following guidelines. The 18 recommendations are based on Level D (Expert opinion without explicit critical appraisal, or based on physiology, bench research, or first principles-National Health Service category) or Level III (Opinions of respected authorities, based on clinical experience, descriptive studies, or reports of expert committees-U.S. Preventive Services Task Force) evidence. The recommendations include the use of genetic testing as the gold standard for the diagnosis of Alport syndrome and the demonstration of its mode of inheritance; the need to identify and follow all affected members of a family with X-linked Alport syndrome, including most mothers of affected males; the treatment of males with X-linked Alport syndrome and individuals with autosomal recessive disease with renin-angiotensin system blockade, possibly even before the onset of proteinuria; discouraging the affected mothers of males with X-linked Alport syndrome from renal donation because of their own risk of kidney failure; and consideration of genetic testing to exclude X-linked Alport syndrome in some individuals with thin basement membrane nephropathy. The authors recognize that as evidence emerges, including data from patient registries, these guidelines will evolve further.

A Rare Variant of Wallenberg’s Syndrome: Opalski syndrome

PubMed Central

KK, Parathan; P, Chitrambalam; Aiyappan, Senthil Kumar; N, Deepthi

2014-01-01

Lateral Medullary Syndrome (LMS) is a well-documented vascular syndrome of the posterior circulation territory. This syndrome is easily localised because of characteristic presentation, unique territory of blood supply and very small area of involvement. We present a case of Wallenberg’s syndrome which did not have all the classical components of the syndrome, like Horner’s syndrome. Opalski syndrome is a rare variant of Wallenberg syndrome, where lateral medullary syndrome is associated with ipsilateral hemiparesis. This case report highlights how differential involvement of the lateral part of medulla can result in varied presentation. PMID:25177595

Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency

PubMed Central

Stephen, Joshi; Vilboux, Thierry; Mian, Luhe; Kuptanon, Chulaluck; Sinclair, Courtney M.; Yildirimli, Deniz; Maynard, Dawn M.; Bryant, Joy; Fischer, Roxanne; Vemulapalli, Meghana; Mullikin, James C.; Huizing, Marjan; Gahl, William A.

2017-01-01

Joubert syndrome and related disorders (JSRD) are a heterogeneous group of ciliopathies defined based on the mid-hindbrain abnormalities that result in the characteristic “molar tooth sign” on brain imaging. The core clinical findings of JSRD are hypotonia, developmental delay, abnormal eye movements and breathing abnormalities. To date, more than 30 JSRD genes that encode proteins important for structure and/or function of cilia have been identified. Here, we present 2 siblings with Joubert syndrome associated with growth hormone deficiency. Whole exome sequencing of the family identified compound heterozygous mutations in KIAA0753, i.e., a missense mutation (p.Arg257Gly) and an intronic mutation (c.2359-1G>C). The intronic mutation alters normal splicing by activating a cryptic acceptor splice site in exon 16. The novel acceptor site skips nine nucleotides, deleting three amino acids from the protein coding frame. KIAA0753 (OFIP) is a centrosome and pericentriolar satellite protein, previously not known to cause Joubert syndrome. We present comprehensive clinical descriptions of the Joubert syndrome patients as well as the cellular phenotype of defective ciliogenesis in the patients’ fibroblasts. PMID:28220259

Duane Syndrome

MedlinePlus

... is Duane Syndrome? Duane syndrome, also called Duane retraction syndrome (DRS), is a congenital and non-progressive ... Is Duane syndrome congenital (present from birth)? Duane retraction syndrome is present from birth, even if it ...

Assessment of the Knowledge of the Decimal Number System Exhibited by Students with Down Syndrome

ERIC Educational Resources Information Center

Noda, Aurelia; Bruno, Alicia

2017-01-01

This paper presents an assessment of the understanding of the decimal numeral system in students with Down Syndrome (DS). We followed a methodology based on a descriptive case study involving six students with DS. We used a framework of four constructs (counting, grouping, partitioning and numerical relationships) and five levels of thinking for…

Impact of Chromosome 4p- Syndrome on Communication and Expressive Language Skills: A Preliminary Investigation

ERIC Educational Resources Information Center

Marshall, Althea T.

2010-01-01

Purpose: The purpose of this investigation was to examine the impact of Chromosome 4p- syndrome on the communication and expressive language phenotype of a large cross-cultural population of children, adolescents, and adults. Method: A large-scale survey study was conducted and a descriptive research design was used to analyze quantitative and…

Educating Children with Down Syndrome in Lebanon: An Exploratory Study of Urban Mothers' Perspective

ERIC Educational Resources Information Center

Hatoum, Rima J.

2010-01-01

In view of the fact that Lebanon does not currently have a special education infrastructure, the purpose of this exploratory qualitative study was to understand the phenomenon of educating children with Down syndrome (DS) in Lebanon in terms of the meanings mothers ascribe to it and their description of their experience. The intent was to develop…

Gender inequality in acute coronary syndrome patients at Omdurman Teaching Hospital, Sudan.

PubMed

Mirghani, Hyder O; Elnour, Mohammed A; Taha, Akasha M; Elbadawi, Abdulateef S

2016-01-01

Gender differences among patients with the acute coronary syndrome is still being debated, no research has been done on gender inequality among coronary syndrome patients in Sudan. To study gender differences in presentation, management, and outcomes of acute coronary syndrome in Sudan. This cross-sectional descriptive longitudinal study was conducted in Omdurman Teaching Hospital between July 2014 and August 2015. Patients were invited to sign a written informed consent form, were interviewed and examined by a physician, and then followed during their hospital stay. Information collected includes coronary risk factors, vital signs, echocardiography findings, arrhythmias, heart failure, cardiogenic shock, and death. The Ethical Committee of Omdurman Teaching Hospital approved the research. A total of 197 consecutive acute coronary syndrome patients were included, 43.1% were females. A significant statistical difference was evident between males and females regarding the type of acute coronary syndrome, its presentation, and time of presentation to the hospital, smoking, and receipt of thrombolysis (P < 0.05). No differences were found with regard to age, hypertension, diabetes, family history of myocardial infarction, percutaneous coronary intervention, and in-hospital acute coronary complications (P > 0.05). Women were less likely to receive thrombolytic therapy, present with chest pain, and diagnosed with ST-segment elevation myocardial infarction. No gender differences were found in acute coronary syndrome risk factors apart from smoking, which was more common in males, and there were no differences between males and females as regards in-hospital complications.

The infundibulo-tuberal syndrome caused by craniopharyngiomas: clinicopathological evidence from an historical French cohort (1705-1973).

PubMed

Castro-Dufourny, Inés; Carrasco, Rodrigo; Prieto, Ruth; Barrios, Laura; Pascual, José M

2015-10-01

Infundibulo-tuberal syndrome groups endocrine, metabolic and behavioral disturbances caused by lesions involving the upper neurohypophysis (median eminence) and adjacent basal hypothalamus (tuber cinereum). It was originally described by Henri Claude and Jean Lhermitte in 1917, in a patient with a craniopharyngioma. This study investigates the clinical, pathological and surgical evidence verifying the infundibulo-tuberal syndrome caused by craniopharyngiomas (CPs). A systematic retrospective review of craniopharyngiomas reported in French literature between 1705 and 1973 was conducted. A total of 128 well described reports providing a comprehensive clinical and pathological description of the tumors were selected. This series represents the historical French cohort of CPs reported in the pre-CT/MRI era. Three major syndromes caused by CPs were categorized: pituitary syndrome (35%), infundibulo-tuberal syndrome (52%) and hypothalamic syndrome (49%). CP topography was significantly related to the type of syndrome described (p < 0.001). Infundibulo-tuberal syndrome occurred in CPs which replaced or invaded the third ventricle floor. In contrast, the majority of sellar/suprasellar CPs growing below the third ventricle showed a pituitary syndrome (82%). Cases with hypothalamic syndrome were characterized by anatomical integrity of the pituitary gland and stalk (p = 0.033) and occurred predominantly in adults older than 41 years old (p < 0.005). Among infundibulo-tuberal symptoms, abnormal somnolence was not related with the presence of hydrocephalus. All squamous-papillary CPs presented psychiatric disturbances (p < 0.001). This historical CP cohort evidences a clinical-topographical correlation between the patient's type of syndrome and the anatomical structures involved by the tumor along the hypophysial-hypothalamic axis.

The relationship between physical activity and metabolic syndrome in people with chronic obstructive pulmonary disease.

PubMed

Park, Soo Kyung; Larson, Janet L

2014-01-01

The prevalence of metabolic syndrome has been reported to be 20% to 50% in people with chronic obstructive pulmonary disease (COPD). Because such people are sedentary and physically inactive, they are at risk of metabolic syndrome. The extent of this problem, however, is not fully understood. This study examined the relationship of sedentary time and physical activity to metabolic syndrome and the components of metabolic syndrome in a population-based sample of people with COPD. This was a secondary analysis of existing cross-sectional data. Subjects with COPD (n = 223) were drawn from the National Health and Nutrition Examination Survey data set (2003-2006). Physical activity was measured by accelerometry. Waist circumference, triglyceride level, high-density lipoprotein cholesterol level, blood pressure, and fasting glucose level were used to describe metabolic syndrome. Descriptive and inferential statistics were used for analysis. Fifty-five percent of the sample had metabolic syndrome. No significant differences in sedentary time and level of physical activity were found in people with COPD and metabolic syndrome and people with COPD only. However, those with a mean activity count of greater than 240 counts per minute had a lower prevalence of metabolic syndrome. Waist circumference and glucose level were significantly associated with the time spent in sedentary, light, and moderate to vigorous physical activity. Metabolic syndrome is highly prevalent in people with COPD, and greater physical activity and less sedentary time are associated with lower rates of metabolic syndrome. This suggests that interventions to decrease the risk of metabolic syndrome in people with COPD should include both reducing sedentary time and increasing the time and intensity of physical activity.

Seckel syndrome: an overdiagnosed syndrome.

PubMed Central

Thompson, E; Pembrey, M

1985-01-01

Five children in whom a diagnosis of Seckel syndrome had previously been made were re-examined in the genetic unit. One child had classical Seckel syndrome, a sib pair had the features of the syndrome with less severe short stature, and in two children the diagnosis was not confirmed. Seckel syndrome is only one of a group of low birth weight microcephalic dwarfism and careful attention should be paid to fulfillment of the major criteria defined by Seckel before the diagnosis is made. There remains a heterogeneous group of low birth weight microcephalic dwarfism yet to be defined. Images PMID:4040172

Clinical management of a child with Prader-Willi Syndrome from maternal uniparental disomy (UPD) genetic inheritance.

PubMed

Bellon-Harn, Monica L

2005-01-01

Prader-Willi Syndrome (PWS) is reported in 1 in 10,000-15,000 individuals. Unfortunately, many cases are missed due to clinicians' lack of familiarity with the syndrome as well as clinical and laboratory diagnostic criteria. Although common clinical characteristics are reported, variety exists in the nature and severity of dysfunction associated with PWS. Case studies can provide information to understand relationships between phenotypic characteristics and genetic inheritance, which can in turn lead to effective clinical management. The purpose of this case study was to describe the characteristics of a child with PWS due to maternal uniparental disomy inheritance pattern and to describe clinical management and treatment outcomes. The reader will obtain information about: (1) the genetic inheritance patterns and clinical characteristics of Prader-Willi Syndrome, (2) genotypic/phenotypic relationships specific to Prader-Willi Syndrome, and (3) clinical implications, management, and outcomes in a case description of a child with PWS due to maternal uniparental disomy inheritance pattern.

Scene perception in posterior cortical atrophy: categorization, description and fixation patterns

PubMed Central

Shakespeare, Timothy J.; Yong, Keir X. X.; Frost, Chris; Kim, Lois G.; Warrington, Elizabeth K.; Crutch, Sebastian J.

2013-01-01

Partial or complete Balint's syndrome is a core feature of the clinico-radiological syndrome of posterior cortical atrophy (PCA), in which individuals experience a progressive deterioration of cortical vision. Although multi-object arrays are frequently used to detect simultanagnosia in the clinical assessment and diagnosis of PCA, to date there have been no group studies of scene perception in patients with the syndrome. The current study involved three linked experiments conducted in PCA patients and healthy controls. Experiment 1 evaluated the accuracy and latency of complex scene perception relative to individual faces and objects (color and grayscale) using a categorization paradigm. PCA patients were both less accurate (faces < scenes < objects) and slower (scenes < objects < faces) than controls on all categories, with performance strongly associated with their level of basic visual processing impairment; patients also showed a small advantage for color over grayscale stimuli. Experiment 2 involved free description of real world scenes. PCA patients generated fewer features and more misperceptions than controls, though perceptual errors were always consistent with the patient's global understanding of the scene (whether correct or not). Experiment 3 used eye tracking measures to compare patient and control eye movements over initial and subsequent fixations of scenes. Patients' fixation patterns were significantly different to those of young and age-matched controls, with comparable group differences for both initial and subsequent fixations. Overall, these findings describe the variability in everyday scene perception exhibited by individuals with PCA, and indicate the importance of exposure duration in the perception of complex scenes. PMID:24106469

Scene perception in posterior cortical atrophy: categorization, description and fixation patterns.

PubMed

Shakespeare, Timothy J; Yong, Keir X X; Frost, Chris; Kim, Lois G; Warrington, Elizabeth K; Crutch, Sebastian J

2013-01-01

Partial or complete Balint's syndrome is a core feature of the clinico-radiological syndrome of posterior cortical atrophy (PCA), in which individuals experience a progressive deterioration of cortical vision. Although multi-object arrays are frequently used to detect simultanagnosia in the clinical assessment and diagnosis of PCA, to date there have been no group studies of scene perception in patients with the syndrome. The current study involved three linked experiments conducted in PCA patients and healthy controls. Experiment 1 evaluated the accuracy and latency of complex scene perception relative to individual faces and objects (color and grayscale) using a categorization paradigm. PCA patients were both less accurate (faces < scenes < objects) and slower (scenes < objects < faces) than controls on all categories, with performance strongly associated with their level of basic visual processing impairment; patients also showed a small advantage for color over grayscale stimuli. Experiment 2 involved free description of real world scenes. PCA patients generated fewer features and more misperceptions than controls, though perceptual errors were always consistent with the patient's global understanding of the scene (whether correct or not). Experiment 3 used eye tracking measures to compare patient and control eye movements over initial and subsequent fixations of scenes. Patients' fixation patterns were significantly different to those of young and age-matched controls, with comparable group differences for both initial and subsequent fixations. Overall, these findings describe the variability in everyday scene perception exhibited by individuals with PCA, and indicate the importance of exposure duration in the perception of complex scenes.

Redefining Borderline Syndromes as Posttraumatic and Rediscovering Emotional Containment as a First Stage in Treatment

ERIC Educational Resources Information Center

Goodwin, Jean M.

2005-01-01

This brief review traces the evolution of clinical understanding about borderline syndromes during the last three decades of the 20th century. The focus shifted from descriptive phenomenology in the 1970s to documenting linkages with childhood trauma in the 1980s. In the 1990s, effective and teachable techniques for emotional containment in these…

Posterior Reversible Leukoencephalopathy Syndrome: Case Series and Review of the Literature.

PubMed

Pirola, Juan Pablo; Baenas, Diego Federico; Haye Salinas, María Jezabel; Benzaquén, Nadia Raquel; Colazo, Marcela; Borghi, María Victoria; Lucero, Cecilia; Álvarez, Ana Cecilia; Retamozo, Soledad; Alvarellos, Alejandro; Saurit, Verónica; Caeiro, Francisco

2018-05-30

To describe clinical manifestations, antecedents, comorbidities and associated treatments, imaging findings, and follow-up in patients with posterior reversible encephalopathy syndrome. A retrospective, descriptive analysis of admitted patients was performed between June 2009 and May 2014 in a third-level care hospital. We evaluated age, sex, comorbidities, symptoms, values of blood pressure at admission, renal function, medication and time elapsed until the disappearance of symptoms. Thirteen patients were included. In all, 77% of them had a history of hypertension at baseline and 85% had impaired renal function. The most prevalent comorbidity was renal transplantation, and 85% had deterioration of renal function. Five of the patients had undergone renal transplantation. The most common clinical manifestation was seizures. All had subcortical lesions and bilateral parietooccipital involvement was the finding most frequently observed. This syndrome should be taken into account in the differential diagnoses of patients presenting with acute neurological syndromes and the abovementioned risk factors. Copyright © 2018 Elsevier España, S.L.U. and Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. All rights reserved.

Burnout syndrome among undergraduate nursing students at a public university.

PubMed

Tomaschewski-Barlem, Jamila Geri; Lunardi, Valéria Lerch; Lunardi, Guilherme Lerch; Barlem, Edison Luiz Devos; da Silveira, Rosemary Silva; Vidal, Danielle Adriane Silveira

2014-01-01

to investigate the burnout syndrome and its relationship with demographic and academic variables among undergraduate nursing students at a public university in Southern Brazil. a quantitative study with 168 students, by applying an adaptation of the Maslach Burnout Inventory - Student Survey, validated for this study. We used descriptive and variance analysis of the data analysis. we found that students do not have the burnout syndrome, manifesting high average scores in Emotional Exhaustion, low in Disbelief and high in Professional Effectiveness; that younger students who perform leisure activities have greater Professional Effectiveness, unlike students in early grades with no extracurricular activities; combining work and studies negatively influenced only the Professional Effectiveness factor, while the intention of giving up influenced negatively Disbelief and Professional Effectiveness factors. the situations that lead students to Emotional Exhaustion need to be recognized, considering the specificity of their study environments.

Threatening auditory hallucinations and Cotard syndrome in Parkinson disease.

PubMed

Factor, Stewart A; Molho, Eric S

2004-01-01

Psychotic symptoms are commonly reported in patients with Parkinson disease (PD). In particular, patients experience nonthreatening visual hallucinations that can occur with insight (so called hallucinosis) or without. Auditory hallucinations are uncommon, and schizophrenialike symptoms such as pejorative and threatening auditory hallucinations and delusions that are persecutory, referential, somatic, religious, or grandiose have rarely been reported. The authors present 2 PD patients who experienced threatening auditory hallucinations, without visual hallucinations, and schizophrenialike delusions with detailed description of the clinical phenomenology including 1 patient with Cotard syndrome.

Maternal and paternal pragmatic speech directed to young children with Down syndrome and typical development

PubMed Central

de Falco, Simona; Venuti, Paola; Esposito, Gianluca; Bornstein, Marc H.

2011-01-01

The aim of this study was to compare functional features of maternal and paternal speech directed to children with Down syndrome and developmental age-matched typically developing children. Altogether 88 parents (44 mothers and 44 fathers) and their 44 young children (22 children with Down syndrome and 22 typically developing children) participated. Parents’ speech directed to children was obtained through observation of naturalistic parent–child dyadic interactions. Verbatim transcripts of maternal and paternal language were categorized in terms of the primary function of each speech unit. Parents (both mothers and fathers) of children with Down syndrome used more affect-salient speech compared to parents of typically developing children. Although parents used the same amounts of information-salient speech, parents of children with Down syndrome used more direct statements and asked fewer questions than did parents of typically developing children. Concerning parent gender, in both groups mothers used more language than fathers and specifically more descriptions. These findings held controlling for child age and MLU and family SES. This study highlights strengths and weaknesses of parental communication to children with Down syndrome and helps to identify areas of potential improvement through intervention. PMID:21215458

Maternal and paternal pragmatic speech directed to young children with Down syndrome and typical development.

PubMed

de Falco, Simona; Venuti, Paola; Esposito, Gianluca; Bornstein, Marc H

2011-02-01

The aim of this study was to compare functional features of maternal and paternal speech directed to children with Down syndrome and developmental age-matched typically developing children. Altogether 88 parents (44 mothers and 44 fathers) and their 44 young children (22 children with Down syndrome and 22 typically developing children) participated. Parents' speech directed to children was obtained through observation of naturalistic parent-child dyadic interactions. Verbatim transcripts of maternal and paternal language were categorized in terms of the primary function of each speech unit. Parents (both mothers and fathers) of children with Down syndrome used more affect-salient speech compared to parents of typically developing children. Although parents used the same amounts of information-salient speech, parents of children with Down syndrome used more direct statements and asked fewer questions than did parents of typically developing children. Concerning parent gender, in both groups mothers used more language than fathers and specifically more descriptions. These findings held controlling for child age and MLU and family SES. This study highlights strengths and weaknesses of parental communication to children with Down syndrome and helps to identify areas of potential improvement through intervention. Copyright © 2010 Elsevier Inc. All rights reserved.

Brief Report: Repetitive Behaviour Profiles in Williams syndrome: Cross Syndrome Comparisons with Prader-Willi and Down syndromes.

PubMed

Royston, R; Oliver, C; Moss, J; Adams, D; Berg, K; Burbidge, C; Howlin, P; Nelson, L; Stinton, C; Waite, J

2018-01-01

This study describes the profile of repetitive behaviour in individuals with Williams syndrome, utilising cross-syndrome comparisons with people with Prader-Willi and Down syndromes. The Repetitive Behaviour Questionnaire was administered to caregivers of adults with Williams (n = 96), Prader-Willi (n = 103) and Down (n = 78) syndromes. There were few group differences, although participants with Williams syndrome were more likely to show body stereotypies. Individuals with Williams syndrome also showed more hoarding and less tidying behaviours than those with Down syndrome. IQ and adaptive ability were negatively associated with repetitive questioning in people with Williams syndrome. The profile of repetitive behaviour amongst individuals with Williams syndrome was similar to the comparison syndromes. The cognitive mechanisms underlying these behaviours in genetic syndromes warrant further investigation.

Laron syndrome (primary growth hormone resistance or insensitivity): the personal experience 1958-2003.

PubMed

Laron, Zvi

2004-03-01

Clinical and laboratory investigations starting in 1958 of a group of dwarfed children resembling isolated GH deficiency but who had very high serum levels of GH led to the description of the syndrome of primary GH resistance or insensitivity (Laron syndrome) and subsequently to the discovery of its molecular defects residing in the GH receptor and leading to an inability of IGF-I generation. With the biosynthesis of IGF-I in 1986, therapeutic trials started. Continuously more and more patients are being diagnosed in many parts of the world with a variety of molecular defects. This syndrome proved to be a unique model that enables the study of the consequences of GH receptor defects, the physiopathology of GH-IGF-I disruption, and comparison of the GH-independent IGF-I effects. This review presents the personal experience gained from the study follow-up and treatment of the 60 patients followed up for many years in the Israeli cohort.

Guillain-Barré Syndrome.

PubMed

Wijdicks, Eelco F M; Klein, Christopher J

2017-03-01

Guillain-Barré syndrome is an acute inflammatory immune-mediated polyradiculoneuropathy presenting typically with tingling, progressive weakness, and pain. Variants and formes frustes may complicate recognition. The best known variant is the sensory ataxic form of Miller Fisher syndrome, which also affects the oculomotor nerves and the brain stem. Divergent pathologic mechanisms lead to demyelinating, axonal, or mixed demyelinating-axonal damage. In the demyelinating form, yet to be identified antigens are inferred by complement activation, myelin destruction, and macrophage-activated cleanup. In the axonal and Miller Fisher variants, gangliosides (GM1, GD1a, GQ1b) are targeted by immunoglobulins and share antigenic epitopes with some bacterial and viral antigens. Campylobacter jejuni infection is associated with an axonal-onset variant; affected patients commonly experience more rapid deterioration. Many other antecedent infectious agents have been recognized including the most recently identified, Zika virus. Supportive care remains the mainstay of therapy. Plasma exchange or intravenous immunoglobin hastens recovery. Combination immunotherapy is not more effective, and the efficacy of prolonged immunotherapy is unproven. One in 3 patients will have deterioration severe enough to require prolonged intensive care monitoring or mechanical ventilation. Full recovery is often seen; most patients regain ambulation, even in severe cases, but disability remains in up to 10% and perhaps more. Numerous challenges remain including early identification and control of infectious triggers, improved access of modern neurointensive care worldwide, and translating our understanding of pathogenesis into meaningful preventive or assistive therapies. This review provides a historical perspective at the centenary of the first description of the syndrome, insights into its pathogenesis, triage, initial immunotherapy, and management in the intensive care unit. Copyright © 2016 Mayo

[Association Budd Chiari syndrome, antiphospholipid syndrome and Grave's disease].

PubMed

Mouelhi, Leila; Chaieb, Mouna; Debbeche, Radhouane; Salem, Mohamed; Sfar, Imene; Trabelsi, Sinda; Gorgi, Yosr; Najjar, Taoufik

2009-02-01

Antiphospholipid syndrome is revealed by Budd Chiari syndrome in 5% of the cases. Antiphospholipid syndrome is characterized by venous or arterial thrombosis, foetal loss and positivity of antiphospholipid antibodies, namely lupus anticoagulant, anticardiolipin antibodies and anti-beta2-glycoprotein I. Anticardiolipin antibodies was reported in auto-immune thyroid disorders, particularly in Grave's disease. Antiphospholipid syndrome associated to Grave's disease was reported in only three cases. To describe a case report of association of Grave's disease and antiphospholipid syndrome. We report the first case of Grave's disease associated with antiphospholipid syndrome, revealed by Budd Chiari syndrome. Our observation is particular by the fact that it is about a patient presenting a Grave's disease associated with antiphospholipid syndrome revealed by Budd Chiari syndrome. This triple association has never been reported in literature. Although association between antiphospholipid syndrome and Grave's disease was previously described, further studies evaluating the coexistence of these two affections in the same patient would be useful.

[Schedule for evaluation of the deficit syndrome in schizophrenia: Schedule for Deficit Syndrome (SDS) (Kirkpatrick et al.). Importance pertinence of the SDS. Introduction of the French version].

PubMed

Ribeyre, J M; Dollfus, S; Lesieur, P; Ménard, J F; Petit, M

1994-01-01

The negative symptoms of schizophrenia have generated a great interest leading some authors (Crow, Andreasen, Kay) to delineate schizophrenic subtypes based on their presence or absence. Carpenter et al. have recently proposed another subtype, the deficit syndrome, based on Kraepelin's clinical description. This differs from other proposed negative subtypes and refers to the presence or absence of prominent, enduring and primary negative symptoms. Primary negative symptoms have to be due to psychophrenia itself, in other words, independent of factors such as depression, anxiety, akinesia... Kirkpatrick et al. have proposed the Schedule for the Deficit Syndrome (SDS) to reliably identify this deficit syndrome. Some studies using this instrument have supported the validity of the deficit syndrome concept. Particularly, deficit patients have clinical, neuropsychological, neurological, eye-tracking and brain imaging impairments compared to nondeficit patients. We realized a french translation of SDS and used it to study a biological index (plasma homovanillic acid, pHVA) among deficit and nondeficit schizophrenic patients. Our data suggest a specific biochemical basis for the deficit syndrome, ie, significant lower mean pHVA levels with a lack of diurnal variation for deficit patients. The french version of SDS was validated by Kirkpatrick after english back translation. We present here our psychometric data regarding reliability (assessed by weighted and unweighted kappa coefficients) and cohesiveness of the construct (assessed by rank-order correlations of each negative symptoms with the other five, using Spearman's rho). These data are quite significant and in agreement with the SDS authors.

Geomyces destructans sp. nov. associated with bat white-nose syndrome

USGS Publications Warehouse

Gargas, Andrea; Trest, M.T.; Christensen, M.; Volk, T.J.; Blehert, David S.

2009-01-01

We describe and illustrate the new species Geomyces destructans. Bats infected with this fungus present with powdery conidia and hyphae on their muzzles, wing membranes, and/or pinnae, leading to description of the accompanying disease as white-nose syndrome, a cause of widespread mortality among hibernating bats in the northeastern US. Based on rRNA gene sequence (ITS and SSU) characters the fungus is placed in the genus Geomyces, yet its distinctive asymmetrically curved conidia are unlike those of any described Geomyces species.

[Asperger's syndrome, little teachers: special skills].

PubMed

Etchepareborda, M C; Díaz-Lucero, A; Pascuale, M J; Abad-Mas, L; Ruiz-Andrés, R

2007-03-02

Asperger's syndrome (AS) is characterised by its effects on reciprocal social interaction, verbal and non-verbal communication, difficulty in accepting changes, inflexible thinking and reduced fields of interest, but also by the presentation of special skills. On the occasion of the centenary of the birth of Hans Asperger, we briefly review the history of this researcher and offer a short description of the clinical features of the condition, including social interaction, communication, limited concerns and interests, routines and inflexibility, which are key points when it comes to reaching a diagnosis. Later, we also focus on Savant syndrome, which is a very common subgroup within AS and which is characterised by the patient's outstanding ability is certain special skills, such as hypermnesia, hyperlexia and hypercalculia, in mental feats concerning the perpetual calendar and in several branches of the arts, such as drawing, painting, sculpture and music. We discuss several famous cases of savants and explain some of the theories about its pathophysiology. Having special skills is a distinguishing mark of AS and identifying and facilitating them would provide us with a potential tool with which to accomplish suitable job opportunities.

Wells syndrome and its relationship to Churg-Strauss syndrome.

PubMed

Ratzinger, Gudrun; Zankl, Julia; Zelger, Bernhard

2013-08-01

  Wells syndrome has been described as an inflammatory disorder based on typical clinical appearance combined with the histopathological presence of eosinophilic infiltrates and flame figures in the absence of vasculitis. Churg-Strauss syndrome, on the other hand, is primarily a diffuse, necrotizing vasculitis but is also typically displaying eosinophils and flame figures. Despite several parallels, the present understanding of these two diseases excludes any pathogenetic relationship.   We describe the clinical course and histopathological appearance of three patients who had initially been diagnosed with Wells syndrome that developed into Churg-Strauss syndrome during the course of their disease.   The clinical presentation of all three patients led to the diagnosis of Wells syndrome by independent specialists. Histopathology showed an eosinophilic infiltrate and flame figures next to features of leukocytoclastic vasculitis. Detailed examination revealed asthma bronchiale and additional symptoms indicating Churg-Strauss syndrome. The initial diagnosis of Wells syndrome had to be revised to Churg-Strauss syndrome.   We conclude that Wells syndrome could be the starting point of a pathogenetic process that might reach its maximum in Churg-Strauss syndrome. As a clinical consequence, patients with Wells syndrome should be evaluated and followed for Churg-Strauss syndrome. © 2013 The International Society of Dermatology.

Language deprivation syndrome: a possible neurodevelopmental disorder with sociocultural origins.

PubMed

Hall, Wyatte C; Levin, Leonard L; Anderson, Melissa L

2017-06-01

There is a need to better understand the epidemiological relationship between language development and psychiatric symptomatology. Language development can be particularly impacted by social factors-as seen in the developmental choices made for deaf children, which can create language deprivation. A possible mental health syndrome may be present in deaf patients with severe language deprivation. Electronic databases were searched to identify publications focusing on language development and mental health in the deaf population. Screening of relevant publications narrowed the search results to 35 publications. Although there is very limited empirical evidence, there appears to be suggestions of a mental health syndrome by clinicians working with deaf patients. Possible features include language dysfluency, fund of knowledge deficits, and disruptions in thinking, mood, and/or behavior. The clinical specialty of deaf mental health appears to be struggling with a clinically observed phenomenon that has yet to be empirically investigated and defined within the DSM. Descriptions of patients within the clinical setting suggest a language deprivation syndrome. Language development experiences have an epidemiological relationship with psychiatric outcomes in deaf people. This requires more empirical attention and has implications for other populations with behavioral health disparities as well.

The Prevalence of Job Stress and its Relationship with Burnout Syndrome among the Academic Members of Lorestan University of Medical Sciences.

PubMed

Nazari, Hedayat; Jariani, Mojgan; Beiranvand, Shorangiz; Saki, Mandana; Aghajeri, Nasrin; Ebrahimzadeh, Farzad

2016-03-01

Burnout syndrome is one of the consequences and the results of occupational or job stress emerged in the form of emotional exhaustion feeling, depersonalization and decrement personal accomplishment. The aim of this study was to determine the occupational stress and its relationship with burnout syndrome in the academic members of Lorestan University of Medical Sciences. This descriptive cross-sectional survey was conducted on 111 of the faculty members via multistage sampling. Data were collected by the questionnaire of Maslach Burnout Inventory (MBI), and Osipow Occupational Stress Inventory (OSI- R). Data were analyzed by using descriptive statistics as well as analytical statistics such as chi square, Kruskal-Wallis, Mann Whitney tests and Pearson correlation coefficient. The results showed that the most of the participants had a low level of burnout three dimensions including emotional burnout (72.1%), depersonalization (81.1%), and the decrement of personal accomplishment (56.8%). Moreover 79.3% of samples had a low occupational stress, but there was a meaningful relationship between occupational stress and dimensions of burnout syndrome with an exception for the intensity of decrement of personal accomplishment. Academic members were in an appropriate condition concerning burnout syndrome and occupational stress. However by applying some strategies to decrease stress and determining stress resources, we can improve their psychological health of academic members.

The Prevalence of Job Stress and its Relationship with Burnout Syndrome among the Academic Members of Lorestan University of Medical Sciences

PubMed Central

Nazari, Hedayat; Jariani, Mojgan; Beiranvand, Shorangiz; Saki, Mandana; Aghajeri, Nasrin; Ebrahimzadeh, Farzad

2016-01-01

Introduction: Burnout syndrome is one of the consequences and the results of occupational or job stress emerged in the form of emotional exhaustion feeling, depersonalization and decrement personal accomplishment. The aim of this study was to determine the occupational stress and its relationship with burnout syndrome in the academic members of Lorestan University of Medical Sciences. Methods: This descriptive cross-sectional survey was conducted on 111 of the faculty members via multistage sampling. Data were collected by the questionnaire of Maslach Burnout Inventory (MBI), and Osipow Occupational Stress Inventory (OSI- R). Data were analyzed by using descriptive statistics as well as analytical statistics such as chi square, Kruskal-Wallis, Mann Whitney tests and Pearson correlation coefficient. Results: The results showed that the most of the participants had a low level of burnout three dimensions including emotional burnout (72.1%), depersonalization (81.1%), and the decrement of personal accomplishment (56.8%). Moreover 79.3% of samples had a low occupational stress, but there was a meaningful relationship between occupational stress and dimensions of burnout syndrome with an exception for the intensity of decrement of personal accomplishment. Conclusion: Academic members were in an appropriate condition concerning burnout syndrome and occupational stress. However by applying some strategies to decrease stress and determining stress resources, we can improve their psychological health of academic members. PMID:26989668

Kindler syndrome.

PubMed

Kaviarasan, P K; Prasad, P V S; Shradda; Viswanathan, P

2005-01-01

Kindler syndrome is a rare autosomal recessive disorder associated with skin fragility. It is characterized by blistering in infancy, photosensitivity and progressive poikiloderma. The syndrome involves the skin and mucous membrane with radiological changes. The genetic defect has been identified on the short arm of chromosome 20. This report describes an 18-year-old patient with classical features like blistering and photosensitivity in childhood and the subsequent development of poikiloderma. The differential diagnosis of Kindler syndrome includes diseases like Bloom syndrome, Cockayne syndrome, dyskeratosis congenita, epidermolysis bullosa, Rothmund-Thomson syndrome and xeroderma pigmentosum. Our patient had classical cutaneous features of Kindler syndrome with phimosis as a complication.

"Syndrome in syndrome": Wernicke syndrome due to afferent loop syndrome. Case report and review of the literature.

PubMed

D'Abbicco, D; Praino, S; Amoruso, M; Notarnicola, A; Margari, A

2011-01-01

Wernicke syndrome is a rare neurological pathology due to a deficit in vitamin B1. The syndrome is common among alcohol abusers, patients with malignant tumor or gastrointestinal diseases, those who undergo hemodialysis or long-term peritoneal dialysis, pregnant women with hyperemesis, women who breast-feed, patients with hyperthyroidism or anorexia nervosa or gastric or jejunal-ileal bypass surgery for obesity, patients submitted to gastric surgery or prolonged total parenteral nutrition or prolonged intravenous therapy. We report a case of Wernicke syndrome due to afferent loop syndrome characterized by incoercible vomiting.

Gender inequality in acute coronary syndrome patients at Omdurman Teaching Hospital, Sudan

PubMed Central

Mirghani, Hyder O.; Elnour, Mohammed A.; Taha, Akasha M.; Elbadawi, Abdulateef S.

2016-01-01

Background: Gender differences among patients with the acute coronary syndrome is still being debated, no research has been done on gender inequality among coronary syndrome patients in Sudan. Objectives: To study gender differences in presentation, management, and outcomes of acute coronary syndrome in Sudan. Subjects and Methods: This cross-sectional descriptive longitudinal study was conducted in Omdurman Teaching Hospital between July 2014 and August 2015. Patients were invited to sign a written informed consent form, were interviewed and examined by a physician, and then followed during their hospital stay. Information collected includes coronary risk factors, vital signs, echocardiography findings, arrhythmias, heart failure, cardiogenic shock, and death. The Ethical Committee of Omdurman Teaching Hospital approved the research. Results: A total of 197 consecutive acute coronary syndrome patients were included, 43.1% were females. A significant statistical difference was evident between males and females regarding the type of acute coronary syndrome, its presentation, and time of presentation to the hospital, smoking, and receipt of thrombolysis (P < 0.05). No differences were found with regard to age, hypertension, diabetes, family history of myocardial infarction, percutaneous coronary intervention, and in-hospital acute coronary complications (P > 0.05). Conclusion: Women were less likely to receive thrombolytic therapy, present with chest pain, and diagnosed with ST-segment elevation myocardial infarction. No gender differences were found in acute coronary syndrome risk factors apart from smoking, which was more common in males, and there were no differences between males and females as regards in-hospital complications. PMID:27186156

The Essential Manual for Asperger Syndrome (ASD) in the Classroom: What Every Teacher Needs to Know

ERIC Educational Resources Information Center

Hoopmann, Kathy

2015-01-01

Perfect for time-poor teachers, Kathy Hoopmann's essential handbook is an easy-to-navigate resource that promotes a positive learning environment in which students with Asperger syndrome (ASD) can thrive. Kathy's unique ability to explain the ASD mind-set shines through as her concise descriptions reveal how to recognise and develop the child's…

Fanconi syndrome

MedlinePlus

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

Brown-Séquard syndrome without vascular injury associated with Horner's syndrome after a stab injury to the neck

PubMed Central

Jones, Margaret; Zumsteg, Jennifer

2016-01-01

Case Description This case reviews the acute care and rehabilitation course of a 44-year-old right-handed woman after an assault with a pocketknife. She suffered multiple stab wounds including penetrating injury to the left side of her neck. Physical examination revealed left hemiplegia (motor score = 57), impaired pinprick sensation on the right caudal to the C5 dermatome, impaired joint position sense on the left, and left ptosis and miosis. Initially she was unable to stand without maximum assistance. MR imaging revealed transection of the left hemicord at the C5 level without cord hemorrhage. CTA of the neck was negative for vascular injury. She completed 18 days of acute inpatient rehabilitation. She used forearm crutches for ambulation at time of discharge. Prior to discharge the patient provided written permission for a case report. Discussion Stab wounds are the most common cause of traumatic Brown-Séquard syndrome. Horner's syndrome is common in spinal cord lesions occurring in the cervical or thoracic region, however the combination of Horner's and Brown-Séquard syndromes is less commonly reported. In this case report, we review recommendations regarding initial imaging following cervical stab wounds, discuss anatomy and associated neurological findings in Brown-Séquard and Horner's syndromes, and review the expected temporal course of motor recovery. Conclusions Facilitating motor recovery and optimizing function after Brown-Séquard spinal cord injury are important roles for the rehabilitation team. Imaging is necessary to rule out cord hemorrhage or vascular injury and to clinically correlate cord damage with physical examination findings and expected functional impairments. Documenting associated anisocoria and explaining this finding to the patient is an important element of spinal cord injury education. Commonly, patients with Brown-Séquard injuries demonstrate remarkable motor recovery and regain voluntary motor strength and functional

[Kenny-Caffey syndrome and its related syndromes].

PubMed

Isojima, Tsuyoshi; Kitanaka, Sachiko

2015-11-01

Kenny-Caffey syndrome (KCS) is a very rare dysmorphologic syndrome characterized by proportionate short stature, cortical thickening and medullary stenosis of tubular bones, delayed closure of anterior fontanelle, eye abnormalities, and hypoparathyroidism. Two types of KCS were known: the autosomal recessive form (KCS type 1), which is caused by mutations of the TBCE gene, and the autosomal dominant form (KCS type 2), which is caused by mutations of the FAM111A gene. TBCE mutation also causes hypoparathyroidism-retardation-dysmorphism syndrome, and FAM111A mutation also causes gracile bone dysplasia. These two diseases can be called as KCS-related syndromes. In this article, we review the clinical manifestations of KCS and discuss its related syndromes.

Psychosocial factors and prevalence of burnout syndrome among nursing workers in intensive care units.

PubMed

da Silva, Jorge Luiz Lima; Soares, Rafael da Silva; Costa, Felipe dos Santos; Ramos, Danusa de Souza; Lima, Fabiano Bittencourt; Teixeira, Liliane Reis

2015-01-01

To evaluate the prevalence of burnout syndrome among nursing workers in intensive care units and establish associations with psychosocial factors. This descriptive study evaluated 130 professionals, including nurses, nursing technicians, and nursing assistants, who performed their activities in intensive care and coronary care units in 2 large hospitals in the city of Rio de Janeiro, Brazil. Data were collected in 2011 using a self-reported questionnaire. The Maslach Burnout Inventory was used to evaluate the burnout syndrome dimensions, and the Self Reporting Questionnaire was used to evaluate common mental disorders. The prevalence of burnout syndrome was 55.3% (n = 72). In the quadrants of the demand-control model, low-strain workers exhibited a prevalence of 64.5% of suspected cases of burnout, whereas high-strain workers exhibited a prevalence of 72.5% of suspected cases (p = 0.006). The prevalence of suspected cases of common mental disorders was 27.7%; of these, 80.6% were associated with burnout syndrome (< 0.0001). The multivariate analysis adjusted for gender, age, educational level, weekly work duration, income, and thoughts about work during free time indicated that the categories associated with intermediate stress levels - active work (OR = 0.26; 95%CI = 0.09 - 0.69) and passive work (OR = 0.22; 95%CI = 0.07 - 0.63) - were protective factors for burnout syndrome. Psychosocial factors were associated with the development of burnout syndrome in this group. These results underscore the need for the development of further studies aimed at intervention and the prevention of the syndrome.

Psychosocial factors and prevalence of burnout syndrome among nursing workers in intensive care units

PubMed Central

da Silva, Jorge Luiz Lima; Soares, Rafael da Silva; Costa, Felipe dos Santos; Ramos, Danusa de Souza; Lima, Fabiano Bittencourt; Teixeira, Liliane Reis

2015-01-01

Objective To evaluate the prevalence of burnout syndrome among nursing workers in intensive care units and establish associations with psychosocial factors. Methods This descriptive study evaluated 130 professionals, including nurses, nursing technicians, and nursing assistants, who performed their activities in intensive care and coronary care units in 2 large hospitals in the city of Rio de Janeiro, Brazil. Data were collected in 2011 using a self-reported questionnaire. The Maslach Burnout Inventory was used to evaluate the burnout syndrome dimensions, and the Self Reporting Questionnaire was used to evaluate common mental disorders. Results The prevalence of burnout syndrome was 55.3% (n = 72). In the quadrants of the demand-control model, low-strain workers exhibited a prevalence of 64.5% of suspected cases of burnout, whereas high-strain workers exhibited a prevalence of 72.5% of suspected cases (p = 0.006). The prevalence of suspected cases of common mental disorders was 27.7%; of these, 80.6% were associated with burnout syndrome (< 0.0001). The multivariate analysis adjusted for gender, age, educational level, weekly work duration, income, and thoughts about work during free time indicated that the categories associated with intermediate stress levels - active work (OR = 0.26; 95%CI = 0.09 - 0.69) and passive work (OR = 0.22; 95%CI = 0.07 - 0.63) - were protective factors for burnout syndrome. Conclusion Psychosocial factors were associated with the development of burnout syndrome in this group. These results underscore the need for the development of further studies aimed at intervention and the prevention of the syndrome. PMID:26340152

Nephrogenic diabetes insipidus in a patient with L1 syndrome: a new report of a contiguous gene deletion syndrome including L1CAM and AVPR2.

PubMed

Knops, Noël B B; Bos, Krista K; Kerstjens, Mieke; van Dael, Karin; Vos, Yvonne J

2008-07-15

We report on an infant boy with congenital hydrocephalus due to L1 syndrome and polyuria due to diabetes insipidus. We initially believed his excessive urine loss was from central diabetes insipidus and that the cerebral malformation caused a secondary insufficient pituitary vasopressin release. However, he failed to respond to treatment with a vasopressin analogue, which pointed to nephrogenic diabetes insipidus (NDI). L1 syndrome and X-linked NDI are distinct clinical disorders caused by mutations in the L1CAM and AVPR2 genes, respectively, located in adjacent positions in Xq28. In this boy we found a deletion of 61,577 basepairs encompassing the entire L1CAM and AVPR2 genes and extending into intron 7 of the ARHGAP4 gene. To our knowledge this is the first description of a patient with a deletion of these three genes. He is the second patient to be described with L1 syndrome and NDI. During follow-up he manifested complications from the hydrocephalus and NDI including global developmental delay and growth failure with low IGF-1 and hypothyroidism. 2008 Wiley-Liss, Inc.

[Burnout syndrome in teachers from two universities in Popayán, Colombia].

PubMed

Correa-Correa, Zamanda; Muñoz-Zambrano, Isabel; Chaparro, Andrés F

2010-08-01

Evaluating professional exhaustion or burnout syndrome: background, syndrome and consequences amongst half-time and full-time staff working in two private universities in the city of Popayán during 2008. The study population included 44 male and female participants aged 20 to 40 who were evaluated by using a brief burnout questionnaire (BBQ). This questionnaire had been validated for Latin-American and for teachers. It was not exclusively focused on the structure of the syndrome itself but rather included background elements and consequences. The study was quantitative and cross-sectional, having a deductive hypothetical methodological focus. Descriptive statistics and the Chi-square test were used for data analysis, accepting p<0.05 statistical significance. The analysis was univariate and bivariate. The results indicated low burnout syndrome frequency in the study population. However, 9.1 % high depersonalization frequency was found (i.e. teachers had developed negative attitudes and were insensitive to those receiving their services) and 15.9 % and 9.1 % frequencies for high physical and social consequences, respectively. Bivariate analysis revealed significant association of several factors. The results indicated low burnout syndrome frequency in this population. However, factors which were highly associated with physical and social consequences were: being male, aged 20 to 40, having a marital relationship with a habitual partner, working full-time, working at home and spending more than 75 % of the working day interacting with the beneficiaries of the services being provided.

Metabolic syndrome and polycystic ovary syndrome: an intriguing overlapping.

PubMed

Caserta, Donatella; Adducchio, Gloria; Picchia, Simona; Ralli, Eleonora; Matteucci, Eleonora; Moscarini, Massimo

2014-06-01

Metabolic syndrome is an increasing pathology in adults and in children, due to a parallel rise of obesity. Sedentary lifestyle, food habits, cultural influences and also a genetic predisposition can cause dyslipidemia, hypertension, abdominal obesity and insulin resistance which are the two main features of metabolic syndrome. Polycystic ovary syndrome (PCOS) is a condition directly associated with obesity, insulin resistance (HOMA index) and metabolic syndrome, and it is very interesting for its relationship and overlap with the metabolic syndrome. The relationship between the two syndromes is mutual: PCOS women have a higher prevalence of metabolic syndrome and also women with metabolic syndrome commonly present the reproductive/endocrine trait of PCOS. Prevention and treatment of metabolic syndrome and PCOS are similar for various aspects. It is necessary to treat excess adiposity and insulin resistance, with the overall goals of preventing cardiovascular disease and type 2 diabetes and improving reproductive failure in young women with PCOS. First of all, lifestyle changes, then pharmacological therapy, bariatric surgery and laparoscopic ovarian surgery represent the pillars for PCOS treatment.

Presence of metabolic syndrome in football linemen.

PubMed

Buell, Jackie L; Calland, Doug; Hanks, Fiona; Johnston, Bruce; Pester, Benjamin; Sweeney, Robert; Thorne, Robert

2008-01-01

Metabolic syndrome is a clustering of symptoms associated with abdominal obesity that demonstrates a high risk for cardiovascular disease and type II diabetes mellitus. To evaluate football linemen in National Collegiate Athletic Association Divisions I, II, and III schools for the presence of metabolic syndrome according to the American Heart Association/National Heart, Lung, and Blood Institute criteria as well as to document other related biomarkers. Cross-sectional descriptive study. Three university locations on the first full day of football camp in early morning. Of 76 football linemen, 70 were able to provide blood samples. Height, mass, blood pressure, upper-body skinfolds, and waist circumference were measured at various stations. Two small venous samples of blood were collected and analyzed in a hospital laboratory for fasting insulin, glucose, high-density lipoprotein, total cholesterol, triglycerides, C-reactive protein, and glycosylated hemoglobin. The last station was a verbal family history for cardiovascular disease and diabetes; also, athletes filled out a nutrition attitudes questionnaire. Of the 70 athletes, 34 were identified as having metabolic syndrome according to measures of blood pressure, waist circumference, fasting glucose, high-density lipoprotein, and triglycerides. The mean total cholesterol-to-high-density lipoprotein cholesterol ratio for the group was 4.95, with 32 participants displaying values higher than 5.0. Twelve volunteers had total cholesterol levels greater than 200 mmol/L, 15 had high levels of C-reactive protein, and 9 had slightly elevated levels of glycosylated hemoglobin. Although athletes might be assumed to be protected from risks of cardiovascular disease, we found a high incidence of metabolic syndrome and other associated adverse biomarkers for heart disease in collegiate football linemen. Early screening, awareness, and intervention may have favorable effects on the overall health outcomes of football linemen.

West syndrome in a patient with Schinzel-Giedion syndrome.

PubMed

Miyake, Fuyu; Kuroda, Yukiko; Naruto, Takuya; Ohashi, Ikuko; Takano, Kyoko; Kurosawa, Kenji

2015-06-01

Schinzel-Giedion syndrome is a rare recognizable malformation syndrome defined by characteristic facial features, profound developmental delay, severe growth failure, and multiple congenital anomalies. The causative gene of Schinzel-Giedion syndrome, SETBP1, has been identified, but limited cases have been confirmed by molecular analysis. We present a 9-month-old girl affected by West syndrome with Schinzel-Giedion syndrome. Congenital severe hydronephrosis, typical facial features, and multiple anomalies suggested a clinical diagnosis of Schinzel-Giedion syndrome. Hypsarrhythmia occurred at 7 months of age and was temporarily controlled by adrenocorticotropic hormone (ACTH) therapy during 5 weeks. SETBP1 mutational analysis showed the presence of a recurrent mutation, p.Ile871Thr. The implications in management of Schinzel-Giedion syndrome are discussed. © The Author(s) 2014.

A personal 35 year perspective on Gilles de la Tourette syndrome: prevalence, phenomenology, comorbidities, and coexistent psychopathologies.

PubMed

Robertson, Mary M

2015-01-01

This Series is a personal narrative of my experience with patients with Gilles de la Tourette syndrome and covers its definition and history since the first description in 1825. Controversy entered the prevalence debate early. Although originally considered very rare, in the 1980s, Tourette's syndrome was reported to be common. However, Tourette's syndrome has been shown to occur at a prevalence of about 0·85% to 1%. Tourette's syndrome is more common in the male population, more prominent during childhood, and usually improves, but does not disappear with age. Tourette's syndrome is considered less common in people of sub-Saharan black African, African-American, and American Hispanic ethnic origin. The phenomenology is similar worldwide, indicating a biological basis. The hallmark characteristics are multiple motor and one or more vocal/phonic tics. Other associated features include premonitory urges, a waxing and waning course, and to a much lesser degree, coprolalia. Comorbid disorders are common and are suggested to include obsessive-compulsive disorder and behaviours, attention deficit hyperactivity disorder, and autistic spectrum disorder. Coexistent psychopathologies are suggested to include depression and conduct and personality disorders. Importantly, I argue that Tourette's syndrome is not a unitary condition. Finally, I offer suggestions for future research. Copyright © 2015 Elsevier Ltd. All rights reserved.

OBESITY PREVALENCE AND METABOLIC SYNDROME IN A PARK USERS

PubMed Central

de SOUZA, Maíra Danielle Gomes; VILAR, Lucio; de ANDRADE, Cinthia Barbosa; ALBUQUERQUE, Raíssa de Oliveira e; CORDEIRO, Lúcia Helena de Oliveira; CAMPOS, Josemberg Marins; FERRAZ, Álvaro Antônio Bandeira

2015-01-01

Background - Overweight and obesity are associated with metabolic syndrome and abdominal obesity, thereby increasing the risk of type 2 diabetes mellitus and cardiovascular diseases. In Brazil, there are still no precise data on the prevalence of these disorders, especially among individuals who carry out some kind of physical activity in public spaces and there are no education and prevention programs for obesity. Aim: To investigate the prevalence of metabolic syndrome and obesity among park users. Methods: A prospective, cross-sectional, descriptive study was conducted with 619 individuals assessed and stratified by profile according to a specific protocol. The group was characterized as follows: female (50.1%) and mean age =50.6±14.8, with predominance of individuals aged between 50 and 59 years (26.8%) and with higher education (68%) and a household income of between 4 and 10 minimum wages (29.2%). Results: Regular physical exercise was reported by 78% of the individuals and it was found that 70.7% were nevertheless of above normal weight: 45% overweight and 25.7% obese, of whom 20.7% had obesity grade I, 3.9% grade II and 1.1% grade III. The prevalence of metabolic syndrome was 4.3%, mostly in men (6.3%). Arterial hypertension and type 2 diabetes mellitus were detected in 17.8% and 5.5%, respectively. In view of the influence of obesity on the occurrence of type 2 diabetes mellitus and metabolic syndrome, it was found that this association was not significant for the two conditions (p=0.014 and 0.017, respectively). Conclusion : The findings demonstrate a high prevalence of overweight and obesity in the studied population, and metabolic syndrome in 4.3%, despite the fact that 70% reported engaging in regular physical activity. PMID:26537270

Update on 13 Syndromes Affecting Craniofacial and Dental Structures

PubMed Central

Bartzela, Theodosia N.; Carels, Carine; Maltha, Jaap C.

2017-01-01

Care of individuals with syndromes affecting craniofacial and dental structures are mostly treated by an interdisciplinary team from early childhood on. In addition to medical and dental specialists that have a vivid interest in these syndromes and for whom these syndromes are of evident interest, experts of scientific background—like molecular and developmental geneticists, but also computational biologists and bioinformaticians—, become more frequently involved in the refined diagnostic and etiological processes of these patients. Early diagnosis is often crucial for the effective treatment of functional and developmental aspects. However, not all syndromes can be clinically identified early, especially in cases of absence of known family history. Moreover, the treatment of these patients is often complicated because of insufficient medical knowledge, and because of the dental and craniofacial developmental variations. The role of the team is crucial for the prevention, proper function, and craniofacial development which is often combined with orthognathic surgery. Although the existing literature does not provide considerable insight into this topic, this descriptive review aims to provide tools for the interdisciplinary team by giving an update on the genetics and general features, and the oral and craniofacial manifestations for early diagnosis. Clinical phenotyping together with genetic data and pathway information will ultimately pave the way for preventive strategies and therapeutic options in the future. This will improve the prognosis for better functional and aesthetic outcome for these patients and lead to a better quality of life, not only for the patients themselves but also for their families. The aim of this review is to promote interdisciplinary interaction and mutual understanding among all specialists involved in the diagnosis and therapeutic guidance of patients with these syndromal conditions in order to provide optimal personalized care in

[Differential diagnosis of Dandy-Walker syndrome different presentations].

PubMed

Tobías-González, Pablo; Gil Mira, Mar; Valero de Bernabé, Javier; Zapardiel, Ignacio

2012-08-01

Dandy-Walker syndrome is a set of abnormalities of the posterior fossa including three modalities: classic Dandy-Walker malformation, Dandy-Walker variant and mega-cisterna magna. Our objective is clarify the differential diagnosis among these entities. Descriptive and retrospective study of Dandy-Walker cases diagnosed at our Department during the last five years plus a review of the related Medical literature. Three cases of Dandy-Walker modalities are reported: one case of classic Dandy-Walker malformation, one case of Dandy-Walker variant, and one case of false Dandy-Walker. In the first two cases the patients underwent legal abortion, whereas in the last one a healthy male newborn was delivered in the week 38 of gestation. Malformations in the posterior fossa, including Dandy-Walker syndrome, are still a challenge in prenatal diagnosis. Technical developments in imaging, such as in three-dimensional sonography and magnetic resonance, allow higher resolution and multiplanar images for an easier diagnose. There is a high rate of false positive, particularly before the 18th week of gestation. It is advisable not to establish a final diagnose before that week.

Did René Descartes Have Exploding Head Syndrome?

PubMed

Otaiku, Abidemi Idowu

2018-04-15

René Descartes (1596-1650), "the Father of Modern Philosophy" and advocate of mind-body dualism, had three successive dreams on November 10, 1619 that changed the trajectory of his life and the trajectory of human thought. Descartes' influential dreams have been of interest to a number of commentators including the famous neurologist and psychoanalyst Sigmund Freud. Descartes' second dream in particular, in which he heard a loud noise in his head before seeing a bright flash of light upon awakening, has been discussed extensively. Commentators have employed psychoanalytic and medical explanations to account for Descartes' unusual nocturnal experience. In this tradition, I propose that Descartes' second dream was not a dream at all; rather, it was an episode of exploding head syndrome; a benign and relatively common parasomnia. I further suggest that Adrien Baillet's account of Descartes' experience constitutes the earliest description of exploding head syndrome, predating the account described by Silas Weir Mitchell in 1876 by nearly 200 years. © 2018 American Academy of Sleep Medicine.

Management of Severely Atrophic Maxilla in Ectrodactyly Ectodermal Dysplasia-cleft Syndrome.

PubMed

Rachmiel, Adi; Turgeman, Shahar; Emodi, Omri; Aizenbud, Dror; Shilo, Dekel

2018-02-01

Ectrodactyly ectodermal dysplasia-cleft syndrome is a rare genetic syndrome with an incidence of 1/90,000 live births, characterized by cleft lip and palate, severely hypoplastic maxilla, and hypodontia. Patients diagnosed with ectrodactyly ectodermal dysplasia-cleft syndrome suffer from a severely hypoplastic maxilla that is highly difficult to treat using traditional orthognathic methods. In this study, we propose using distraction osteogenesis to achieve a major advancement while maintaining good stability and minimal relapse. To our knowledge, this is the first description of patients with this syndrome treated using distraction osteogenesis. Five patients diagnosed with ectrodactyly ectodermal dysplasia-cleft syndrome were included in the study. All patients had been operated on according to the well-established protocol of cleft lip and palate reconstruction before maxillary distraction osteogenesis. Hard and soft-tissue changes were evaluated by cone beam computed tomography and lateral cephalograms before distraction osteogenesis (T1), at the postdistraction point (T2) and after 1 year of follow-up (T3). Examination revealed marked maxillary advancement in all our patients with a significant mean difference in hard tissue parameters (condylion to A point = 18 mm; nasion-sella line to A point = 15.2 degrees) and a notable improvement in facial convexity (20.9 degrees). One year follow-up measurements demonstrated mild relapse rates of 6% in the horizontal plane. We conclude that despite the challenging anatomic and physiological features of ectrodactyly ectodermal dysplasia-cleft patients, by enhancing current surgical techniques, there is promising potential for improved patient outcomes, achieving normognathic facial appearance with implant supported rehabilitation.

Kindler syndrome.

PubMed

Lai-Cheong, Joey E; McGrath, John A

2010-01-01

Kindler syndrome (MIM173650) is an autosomal recessive genodermatosis characterized by poikiloderma, trauma-induced skin blistering, mucosal inflammation, and photosensitivity. Loss-of-function mutations in the FERMT1 gene are the cause of Kindler syndrome. Kindler syndrome is categorized as a subtype of epidermolysis bullosa (EB). During infancy and childhood, there is clinical overlap between Kindler syndrome and dystrophic EB. Unlike other forms of EB, Kindler syndrome is characterized by impaired actin cytoskeleton-extracellular matrix interactions and a variable plane of blister formation at or close to the dermal-epidermal junction. This article reviews clinicopathologic and molecular features of Kindler syndrome and discusses patient management.

French database of children and adolescents with Prader-Willi syndrome

PubMed Central

Molinas, Catherine; Cazals, Laurent; Diene, Gwenaelle; Glattard, Melanie; Arnaud, Catherine; Tauber, Maithe

2008-01-01

Background Prader-Willi syndrome (PWS) is a rare multisystem genetic disease leading to severe complications mainly related to obesity. We strongly lack information on the natural history of this complex disease and on what factors are involved in its evolution and its outcome. One of the objectives of the French reference centre for Prader-Willi syndrome set-up in 2004 was to set-up a database in order to make the inventory of Prader-Willi syndrome cases and initiate a national cohort study in the area covered by the centre. Description the database includes medical data of children and adolescents with Prader-Willi syndrome, details about their management, socio-demographic data on their families, psychological data and quality of life of the parents. The tools and organisation used to ensure data collection and data quality in respect of good clinical practice procedures are discussed, and main characteristics of our Prader-Willi population at inclusion are presented. Conclusion this database covering all the aspects of PWS clinical, psychological and social profiles, including familial psychological and quality of life will be a powerful tool for retrospective studies concerning this complex and multi factorial disease and could be a basis for the design of future prospective multicentric studies. The complete database and the Stata.do files are available to any researcher wishing to use them for non-commercial purposes and can be provided upon request to the corresponding author. PMID:18831731

Obstructive sleep apnoea/hypopnoea syndrome in adults with Down syndrome

PubMed Central

2016-01-01

Key points Adults with Down syndrome are predisposed to obstructive sleep apnoea/hypopnoea syndrome (OSAHS) due to overlap between the Down syndrome phenotype and OSAHS risk factors. The prevalence of OSAHS in adults with Down syndrome is estimated at 35–42%. This is up to ten-times higher than in the general adult population. Symptoms of OSAHS, including behavioural and emotional disturbances as well as standard symptoms such as sleepiness, should be monitored as part of regular health surveillance in adults with Down syndrome. There is evidence that the use of continuous positive airway pressure (CPAP) therapy in adults with Down syndrome and comorbid OSAHS can lead to significant improvements in subjective sleepiness, behaviour and cognitive function, though further large-scale trials are required. Educational aims To discuss the relationship between the phenotypic features of Down syndrome and the risk factors for obstructive sleep apnoea/hypopnoea syndrome (OSAHS). To examine the prevalence of OSAHS in adults with Down syndrome. To review recent research into the effectiveness of treatment of OSAHS in adults with Down syndrome using continuous positive airway pressure (CPAP) therapy. Obstructive sleep apnoea/hypopnoea syndrome (OSAHS) is characterised by repeated cycles of upper airway obstruction during sleep, leading to diurnal symptoms. Individuals with Down syndrome are predisposed to OSAHS due to overlap between the Down syndrome phenotype and OSAHS risk factors. Recent large studies using subjective and objective measures estimate that OSAHS affects around 40% of adults with Down syndrome, in contrast to 2–4% of the general adult population. The “double-hit” of comorbid Down syndrome and OSAHS may accelerate cognitive decline in adults with Down syndrome. However, with the appropriate care and support, OSAHS can be treated effectively in this group using continuous positive airway pressure (CPAP) therapy, improving daytime function and behaviour

Obstructive sleep apnoea/hypopnoea syndrome in adults with Down syndrome.

PubMed

Hill, Elizabeth A

2016-12-01

Adults with Down syndrome are predisposed to obstructive sleep apnoea/hypopnoea syndrome (OSAHS) due to overlap between the Down syndrome phenotype and OSAHS risk factors.The prevalence of OSAHS in adults with Down syndrome is estimated at 35-42%. This is up to ten-times higher than in the general adult population.Symptoms of OSAHS, including behavioural and emotional disturbances as well as standard symptoms such as sleepiness, should be monitored as part of regular health surveillance in adults with Down syndrome.There is evidence that the use of continuous positive airway pressure (CPAP) therapy in adults with Down syndrome and comorbid OSAHS can lead to significant improvements in subjective sleepiness, behaviour and cognitive function, though further large-scale trials are required. To discuss the relationship between the phenotypic features of Down syndrome and the risk factors for obstructive sleep apnoea/hypopnoea syndrome (OSAHS).To examine the prevalence of OSAHS in adults with Down syndrome.To review recent research into the effectiveness of treatment of OSAHS in adults with Down syndrome using continuous positive airway pressure (CPAP) therapy. Obstructive sleep apnoea/hypopnoea syndrome (OSAHS) is characterised by repeated cycles of upper airway obstruction during sleep, leading to diurnal symptoms. Individuals with Down syndrome are predisposed to OSAHS due to overlap between the Down syndrome phenotype and OSAHS risk factors. Recent large studies using subjective and objective measures estimate that OSAHS affects around 40% of adults with Down syndrome, in contrast to 2-4% of the general adult population. The "double-hit" of comorbid Down syndrome and OSAHS may accelerate cognitive decline in adults with Down syndrome. However, with the appropriate care and support, OSAHS can be treated effectively in this group using continuous positive airway pressure (CPAP) therapy, improving daytime function and behaviour. Symptoms of OSAHS should be routinely

Causes of Death in Prader-Willi Syndrome: Prader-Willi Syndrome Association (USA) 40-Year Mortality Survey

PubMed Central

Butler, Merlin G.; Manzardo, Ann M.; Heinemann, Janalee; Loker, Carolyn; Loker, James

2016-01-01

Background Prader-Willi syndrome (PWS) is a rare complex neurodevelopmental genetic disorder that is associated with hyperphagia and morbid obesity in humans leading to a shortened life expectancy. This report summarizes the primary causes of death and evaluates mortality trends in a large cohort of individuals with PWS. Methods PWSA (USA) mortality syndrome-specific database of death reports was collected through a cursory bereavement program for PWSA(USA) families using a brief survey created in 1999. Causes of death were descriptively characterized and statistically examined using Cox Proportional Hazards. Results A total of 486 deaths were reported (263 males, 217 females, 6 unknown) between 1973 and 2015 with mean age of 29.5 ± 16 years (2mo–67yrs), 70% occurring in adulthood. Respiratory failure was the most common cause accounting for 31% of all deaths. Males were at increased risk for presumed hyperphagia-related accidents/injuries compared to females and cardiopulmonary factors. PWS maternal disomy 15 genetic subtype showed an increased risk of death from cardiopulmonary factors compared to the deletion subtype. Conclusions These findings highlight the heightened vulnerability towards obesity and hyperphagia-related mortality in PWS. Future research is needed to address critical vulnerabilities such as gender and genetic subtype in the cause of death in PWS. PMID:27854358

The Eosinophil Count Tends to Be Negatively Associated with Levels of Serum Glucose in Patients with Adrenal Cushing Syndrome.

PubMed

Lee, Younghak; Yi, Hyon Seung; Kim, Hae Ri; Joung, Kyong Hye; Kang, Yea Eun; Lee, Ju Hee; Kim, Koon Soon; Kim, Hyun Jin; Ku, Bon Jeong; Shong, Minho

2017-09-01

Cushing syndrome is characterized by glucose intolerance, cardiovascular disease, and an enhanced systemic inflammatory response caused by chronic exposure to excess cortisol. Eosinopenia is frequently observed in patients with adrenal Cushing syndrome, but the relationship between the eosinophil count in peripheral blood and indicators of glucose level in patients with adrenal Cushing syndrome has not been determined. A retrospective study was undertaken of the clinical and laboratory findings of 40 patients diagnosed with adrenal Cushing syndrome at Chungnam National University Hospital from January 2006 to December 2016. Clinical characteristics, complete blood cell counts with white blood cell differential, measures of their endocrine function, description of imaging studies, and pathologic findings were obtained from their medical records. Eosinophil composition and count were restored by surgical treatment of all of the patients with adrenal Cushing disease. The eosinophil count was inversely correlated with serum and urine cortisol, glycated hemoglobin, and inflammatory markers in the patients with adrenal Cushing syndrome. Smaller eosinophil populations in patients with adrenal Cushing syndrome tend to be correlated with higher levels of blood sugar and glycated hemoglobin. This study suggests that peripheral blood eosinophil composition or count may be associated with serum glucose levels in patients with adrenal Cushing syndrome. Copyright © 2017 Korean Endocrine Society

The Eosinophil Count Tends to Be Negatively Associated with Levels of Serum Glucose in Patients with Adrenal Cushing Syndrome

PubMed Central

Lee, Younghak; Kim, Hae Ri; Joung, Kyong Hye; Kang, Yea Eun; Lee, Ju Hee; Kim, Koon Soon; Kim, Hyun Jin; Ku, Bon Jeong; Shong, Minho

2017-01-01

Background Cushing syndrome is characterized by glucose intolerance, cardiovascular disease, and an enhanced systemic inflammatory response caused by chronic exposure to excess cortisol. Eosinopenia is frequently observed in patients with adrenal Cushing syndrome, but the relationship between the eosinophil count in peripheral blood and indicators of glucose level in patients with adrenal Cushing syndrome has not been determined. Methods A retrospective study was undertaken of the clinical and laboratory findings of 40 patients diagnosed with adrenal Cushing syndrome at Chungnam National University Hospital from January 2006 to December 2016. Clinical characteristics, complete blood cell counts with white blood cell differential, measures of their endocrine function, description of imaging studies, and pathologic findings were obtained from their medical records. Results Eosinophil composition and count were restored by surgical treatment of all of the patients with adrenal Cushing disease. The eosinophil count was inversely correlated with serum and urine cortisol, glycated hemoglobin, and inflammatory markers in the patients with adrenal Cushing syndrome. Conclusion Smaller eosinophil populations in patients with adrenal Cushing syndrome tend to be correlated with higher levels of blood sugar and glycated hemoglobin. This study suggests that peripheral blood eosinophil composition or count may be associated with serum glucose levels in patients with adrenal Cushing syndrome. PMID:28956365

Cushing syndrome

MedlinePlus

Hypercortisolism; Cortisol excess; Glucocorticoid excess - Cushing syndrome ... The most common cause of Cushing syndrome is taking too much ... Cushing syndrome . Prednisone, dexamethasone, and prednisolone ...

[BURNOUT SYNDROME AND STRESS OF NURSING STAFF IN A OURENSE HOSPITAL].

PubMed

Soto-Rodríguez, Anxela; Pérez-Fernandez, Ma Reyes

2015-02-01

Set up the stress prevalence and burnout syndrome in different units of nursing staff of the Complexo Hospitalario Universitario de Ourense (CHUOU) and analyse which factors cause it. It has been designed a transversal, descriptive study by performing three assessment instruments: questionnaire of social-demographic variables; Maslach Burnout Inventory (MBI), and Nursing Stress Scale (NSS), to a 117 nursing staff of CHUOU as population. The average age was 39.23 years old and 83.8% were women. The average scoring in the emotional exhaustion dimension was 24.44, in the component of depersonalization was 7.58, and in the personal accomplishment was 34.50. Moreover, 89.7% suffer stress related with work environment. The average score in the dimension of emotional exhaustion was 24.44, the depersonalization of 7.58 and the personal accomplishment of 34.50. The 89.7% suffered from work-related stress. Nursing staff present high burnout syndrome and stress. It has been observed a higher vulnerability to the syndrome from subjects with temporary contract and rotary shift. There has been statistically significant differences in young nursing staff and less career seniority, whom present hiqher stress levels.

Working experiences of nurses during the Middle East respiratory syndrome outbreak.

PubMed

Kang, Hee Sun; Son, Ye Dong; Chae, Sun-Mi; Corte, Colleen

2018-05-30

To explore working experiences of nurses during Middle East respiratory syndrome outbreak. Since the first case of Middle East respiratory syndrome was reported on May 20, 2015 in South Korea, 186 people, including health care workers, were infected, and 36 died. A qualitative descriptive study. Seven focus groups and 3 individual in-depth interviews were conducted from August to December 2015. Content analysis was used. The following 4 major themes emerged: "experiencing burnout owing to the heavy workload," "relying on personal protective equipment for safety," "being busy with catching up with the new guidelines related to Middle East respiratory syndrome," and "caring for suspected or infected patients with caution." Participants experienced burnout because of the high volume of work and expressed safety concerns about being infected. Unclear and frequently changing guidelines were 1 of the common causes of confusion. Participants expressed that they need to be supported while caring for suspected or infected patients. This study showed that creating a supportive and safe work environment is essential by ensuring adequate nurse staffing, supplying best-quality personal protective equipment, and improving communication to provide the quality of care during infection outbreak. © 2018 John Wiley & Sons Australia, Ltd.

[Cockett's syndrome, May-Thurner syndrome, or iliac vein compression syndrome].

PubMed

Gil Martín, A R; Carreras Aja, M; Arrieta Ardieta, I; Labayen Azparren, I

2014-01-01

Iliac vein compression syndrome (also known as May-Thurner syndrome or Cockett's syndrome) is a rare clinical entity in which the left common iliac vein is compressed when it passes between the right common iliac artery and the spine. The sustained compression and trauma caused by the pulsatile force of the artery on the vein damage the intima and lead to the formation of membranes or bands in the vascular lumen that hinder or obstruct the flow of blood in the vein, favoring thrombus formation. The current treatment strategy of choice is endovascular vein patch angioplasty and stenting with the aim of improving the caliber of the lumen and enabling normal venous drainage. We present two cases of May-Thurner syndrome and review the clinical and CT findings. Copyright © 2011 SERAM. Published by Elsevier Espana. All rights reserved.

LEOPARD syndrome

MedlinePlus

Multiple lentigines syndrome; Noonan syndrome with multiple lentigines ... Genetics Home Reference -- ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines National Organization for Rare Disorders -- ...

Irritable Bowel Syndrome

MedlinePlus

... Staying Safe Videos for Educators Search English Español Irritable Bowel Syndrome KidsHealth / For Teens / Irritable Bowel Syndrome What's in ... intestinal disorder called irritable bowel syndrome. What Is Irritable Bowel Syndrome? Irritable bowel syndrome (IBS) is a common intestinal ...

Hardware description languages

NASA Technical Reports Server (NTRS)

Tucker, Jerry H.

1994-01-01

Hardware description languages are special purpose programming languages. They are primarily used to specify the behavior of digital systems and are rapidly replacing traditional digital system design techniques. This is because they allow the designer to concentrate on how the system should operate rather than on implementation details. Hardware description languages allow a digital system to be described with a wide range of abstraction, and they support top down design techniques. A key feature of any hardware description language environment is its ability to simulate the modeled system. The two most important hardware description languages are Verilog and VHDL. Verilog has been the dominant language for the design of application specific integrated circuits (ASIC's). However, VHDL is rapidly gaining in popularity.

Assessment of orofacial characteristics and oral pathology associated with cri-du-chat syndrome.

PubMed

Rodríguez-Caballero, A; Torres-Lagares, D; Yáñez-Vico, R-M; Gutiérrez-Pérez, J-L; Machuca-Portillo, G

2012-03-01

To obtain a deeper insight into the difficulties individuals with cri-du-chat syndrome experience by means of the analysis of the most common features and oral pathology observed in the subjects enrolled in the study. Intra-oral and extra-oral features of a total of 33 patients with cri-du-chat syndrome (the larger sample so far analyzed) through their clinical and photographic examination. Models, orthopantomographies, and teleradiographies have been collected to establish a pattern as accurate as possible of the oral pathology associated with these patients. The present descriptive study shows that patients with cri-du-chat syndrome present with a series of orofacial features such as mandibular retrognathism, high palate, and variable malocclusion, more commonly anterior open-bite. Most patients also present with perioral muscle relaxation with labial incompetence and short philtrum. As regards oral pathology, these patients suffer dental erosions provoked by gastroesophageal reflux and attritions because of intense day-and-night bruxism. The odontologists' familiarity with the orofacial pathology associated with cri-du-chat syndrome and with the specific needs such disorder conveys should improve the quality of the buccodental treatment these professionals may offer to these patients. © 2011 John Wiley & Sons A/S.

Risky Behaviors of Mothers with Infants on Sudden Infant Death Syndrome in Turkey.

PubMed

Erdoğan, Çiğdem; Turan, Türkan

Sudden infant death syndrome is the most common cause of death during the post-neonatal period. Factors such as sleeping position, bed sharing, pillow use, smoking during pregnancy and the breastfeeding period constitute risk factors for sudden infant death syndrome. This study aims to identify the risky behaviors of mothers with infants that may put their children at risk for sudden infant death syndrome. This is a cross-sectional, descriptive study. Data were collected using a questionnaire that was developed by the researchers. The questionnaire was filled out by 456 mothers who applied to the family health center between October 2014 and January 2015. The greatest risk factor is the infant's sleeping position. A total of 77.9% of the mothers put their babies in bed in a non-supine position; 65.8% used a pillow when they put their babies in bed, 52.9% used a soft mattress, and 28.5% shared their beds with their babies. Prone sleeping was more likely to occur when smoke was present in the home or a pillow was used. Nurses should notify families of the risky behaviors that can cause sudden infant death syndrome and plan appropriate nursing care. Copyright © 2017 Elsevier Inc. All rights reserved.

[Foix-Alajouanine syndrome, what is it?].

PubMed

Shuleshova, N V; Skoromets, A A; Lu, C; Zabrodskaia, Iu M; Sartakova-Korzhova, A N; Nutfullina, G M; Krasnov, V S

2014-01-01

The article contains the description of Foix-Alajouanine syndrome (FAS) from literature. Three our own cases of FAS, which developed in two men and one woman, are presented. An analysis of FAS clinical picture revealed a step-like progression of the disease with a possibility of short-term fluctuation of some focal neurological signs. Five stages of clinical course of FAS were detected. Some peculiar sings of spinal neurovisualization, together with serum and cerebro-spinal fluid (CSF) laboratory examinations, were indicated in FAS. Surgery is first-choice of FAS treatment. Pharmacological treatment with high doses of anticoagulants, together with antiviral therapy (and antibiotics, if necessary), neuroprotectors, antiedematic and symptomatic therapy must be started early. Prevention of thrombotic, trophic and purulent complications is required.

Hereditary familial polyposis and Gardner's syndrome: contribution of the odonto-stomatology examination in its diagnosis and a case description.

PubMed

Chimenos-Küstner, Eduardo; Pascual, Montserrat; Blanco, Ignacio; Finestres, Fernando

2005-01-01

Familial Adenomatous Polyposis (FAP) and its phenotype variant, Gardner's syndrome, constitute a rare autosomal dominant inherited disorder. They are characterised by the development, generally during the second and third decades of life, of multiple adenomatous polyps in the colon and rectum. These polyps have a high risk of subsequently becoming malignant, which normally occurs in the third and fourth decades of life. The phenotypical features of FAP can be very variable. As well as colorectal polyps, these individuals can present with extra-colonic symptoms, among which are particularly: gastro-duodenal polyps, dermoid and epidermoid cysts, desmoid tumours, congenital hypertrophy of the retinal pigment epithelium, disorders of the maxillary and skeletal bones and dental anomalies. In this paper the most important aspects of this syndrome are reviewed, showing an example based on a well documented clinical case. The importance of odonto-stomatological examinations should be pointed out, among others, as a means of reaching a presumptive diagnosis, whose confirmation is vital to the patient.

A Chinese patient with pusher syndrome and unilateral spatial neglect syndrome.

PubMed

Chen, Xiao-Wei; Lin, Cheng-He; Zheng, Hua; Lin, Zhen-Lan

2014-07-01

To observe clinical manifestations, behavioral characteristics, and effects of rehabilitation on a patient with pusher syndrome and unilateral spatial neglect caused by right thalamic hemorrhage. Assessment of pusher syndrome was made by the Scale for Contraversive pushing (SCP), and unilateral spatial neglect syndrome was diagnosed using line cancellation, letter and star cancellation, line bisection tests and copy and continuation of graphic sequence test. Behavioral therapy, occupational therapy, reading training and traditional Chinese medicine methods were adopted for treatment of pusher syndrome and unilateral spatial neglect. The patient showed typical pusher syndrome and unilateral spatial neglect symptoms. The pusher syndrome and unilateral spatial neglect symptoms were significantly improved following rehabilitation treatments. Pusher syndrome and unilateral spatial neglect syndrome occurred simultaneously after right thalamic hemorrhage. Early rehabilitation therapy can reduce the symptoms of pusher syndrome and unilateral spatial neglect syndrome and improve motor function.

Aarskog syndrome

MedlinePlus

Aarskog disease; Aarskog-Scott syndrome; AAS; Faciodigitogenital syndrome; Gaciogenital dysplasia ... Aarskog syndrome is a genetic disorder that is linked to the X chromosome. It affects mainly males, but females ...

Malabsorption Syndromes

MedlinePlus

... foods you eat. If you have a malabsorption syndrome, your small intestine cannot absorb nutrients from foods. Causes of malabsorption syndromes include Celiac disease Lactose intolerance Short bowel syndrome. ...

[XYY syndrome (diplo-Y syndrome)].

PubMed

Braun-Scharm, H; Schroeder-Kurth, T M

1986-01-01

A case is reported of a 12-year-old boy with the XYY syndrome and unusual clinical symptoms. In addition, past research on the XYY syndrome and the current state of knowledge is reviewed, with special emphasis on psychopathology, psychiatry and genetic counseling.

A Comprehensive Review of Tourette Syndrome and Complementary Alternative Medicine.

PubMed

Kumar, Ashutosh; Duda, L; Mainali, G; Asghar, S; Byler, D

2018-01-01

Tourette syndrome (TS) is a neuropsychiatric condition defined by both motor and phonic tics over a period of at least 1 year with the onset before 18 years of age. The purpose of this article is to review the use of complementary alternative medicine (CAM) in children and adults with Tourette syndrome with emphasis on recent research. Most patients do not tell their physician about the use of CAM unless if specifically asked. Of the studies reviewed, description of the treatment and the frequency of use were most often reported. Few studies examine the role or effectiveness of CAM in the treatment of TS specifically. Practitioners should be aware of current research regarding various CAM modalities used for TS patients, including efficacy, potential adverse effects, and interactions with medications. Robust data about the use of CAM, efficacy, and potential side effects is lacking and requires further research to clarify optimal use.

Xeroderma pigmentosum-Cockayne syndrome complex.

PubMed

Natale, Valerie; Raquer, Hayley

2017-04-04

Xeroderma pigmentosum-Cockayne syndrome complex is a very rare multisystem degenerative disorder (Orpha: 220295; OMIM: 278730, 278760, 278780, 610651). Published information on XP-CS is mostly scattered throughout the literature. We compiled statistics related to symptom prevalence in XP-CS and have written a clinical description of the syndrome. We also drew on clinical practices used in XP and in Cockayne syndrome without XP to aid management of XP-CS.Extensive searches of the literature identified 43 XP-CS patients. The diagnosis had been confirmed with molecular or biochemical methods in 42 of them. Clinical features of each patient were summarized in spreadsheets and summary statistics were generated from this data. XP patients are classified into complementation groups according to the gene that is mutated. There are four groups in XP-CS, and classification was available for 42 patients. Twenty-one were in the XP-G complementation group, 13 in XP-D, 5 in XP-B, and 3 in XP-F. Overall, the clinical features of XP-CS are very similar to those of CS without XP, with the exception of skin cancers in XP-CS. However, one intriguing finding was that cancer incidence was lower in XP-CS compared to XP alone or XP-neurological disorder. The cancer rate in XP-CS was higher than in CS without XP, an unsurprising finding. There is preliminary evidence for the existence of severity groups in XP-CS, as is the case in CS.Although health problems in XP-CS vary both in severity and in when they the first occur, there was overall homogeneity between all complementation groups and putative severity groups. Severely affected patients met fewer milestones and died at younger ages compared to more mildly affected patients.

Nance-Horan syndrome-The oral perspective on a rare disease.

PubMed

Gjørup, Hans; Haubek, Dorte; Jacobsen, Pernille; Ostergaard, John R

2017-01-01

The present study describes seven patients with Nance-Horan syndrome, all referred to a specialized oral care unit in the Central Denmark Region. A literature search on "Nance Horan Syndrome" resulted in 53 publications among which 29 reported on dental findings. Findings reported in these papers have been systematized to obtain an overview of the reported findings and the terminology on dental morphology. All seven patients included in the present study showed deviations of crown morphology on incisors and/or molars. The only consistent and very clear dental aberration was alterations in the tooth morphology that is screwdriver-shaped incisors and bud molars being most pronounced in the permanent dentition, but were also present in the primary dentition. In addition, three patients had supernumerary teeth, and three had dental agenesis. In conclusion, a dental examination as a part of the diagnostic process may reveal distinct characteristics of the dental morphology, which could be of diagnostic value and facilitate an early diagnosis. In the description of molar morphology in NHS patients, it is recommended to use the term "bud molar." The combination of congenital cataract, screwdriwer-shaped incisors and bud-shaped molars is a strong clinical indication of Nance-Horan syndrome. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Prenatal diagnosis and prognosis of triple X syndrome: 47, XXX.

PubMed

Ben Hamouda, H; Mkacher, N; Elghezal, H; Bannour, H; Kamoun, M; Soua, H; Saad, A; Souissi, M M; Sfar, M T

2009-11-01

Triple X syndrome is a relatively common sex chromosomal abnormality occurring in 0,1% of live-born female infants. Most of these infants have a normal phenotype and only a few cases with 47, XXX karyotype have congenital malformations. We report three cases of triple X syndrome that were diagnosed prenatally by genetic amniocentesis for advanced maternal age and have been observed from birth to age of 3 to 12 years. A description of their growth and development is presented. The birth weight was normal in all patients and one of them had facial dysmorphism with right microphtalmia and auricular septal defect. During the first 2 years of life, the neuromotor development of these infants was not distinguishable from chromosomally normal children. By 3 years of age, two patients have a moderate developmental delay in speech and language. One girl 12-year-old had normal schooling. The diagnosis of the triple X syndrome can be never made because clinical demonstrations are not rather important to arouse the demand of a karyotype. Prenatal diagnosis is often made in front of the advanced maternal age. Expectant parents must be counseled as to the significance of this 47, XXX karyotype and prognostic information must be given.

Burnout syndrome among undergraduate nursing students at a public university1

PubMed Central

Tomaschewski-Barlem, Jamila Geri; Lunardi, Valéria Lerch; Lunardi, Guilherme Lerch; Barlem, Edison Luiz Devos; da Silveira, Rosemary Silva; Vidal, Danielle Adriane Silveira

2014-01-01

OBJECTIVE: to investigate the burnout syndrome and its relationship with demographic and academic variables among undergraduate nursing students at a public university in Southern Brazil. METHOD: a quantitative study with 168 students, by applying an adaptation of the Maslach Burnout Inventory - Student Survey, validated for this study. We used descriptive and variance analysis of the data analysis. RESULTS: we found that students do not have the burnout syndrome, manifesting high average scores in Emotional Exhaustion, low in Disbelief and high in Professional Effectiveness; that younger students who perform leisure activities have greater Professional Effectiveness, unlike students in early grades with no extracurricular activities; combining work and studies negatively influenced only the Professional Effectiveness factor, while the intention of giving up influenced negatively Disbelief and Professional Effectiveness factors. CONCLUSION: the situations that lead students to Emotional Exhaustion need to be recognized, considering the specificity of their study environments. PMID:25591087

[Fat embolism syndrome after bone fractures].

PubMed

Campo-López, C; Flors-Villaverde, P; Calabuig-Alborch, J R

2012-11-01

To review the incidence, clinical features, diagnosis, therapy and mortality rates of fat embolism syndrome (FES) in a tertiary referral hospital in the last decade. Retrospective and descriptive study of patients diagnosed with post-traumatic FES between january 2001 and december 2011. A total of 19 patients, 16 men and 3 women, with an average age of 27 years were evaluated. All had long bone fractures, multiple in 78.9%, as a result of multiple injuries. Respiratory symptoms were the most frequent (89.5%), followed by neurological symptoms (68.4%) and petechial rash (63.2%). The average time of presentation of the syndrome after admission was 42 hours. All patients underwent early stabilisation of the fracture prior to the embolic event. Steroids prophylaxis was not used in any of the cases. Definitive surgical treatment had mean delay of 7 days. The mean hospital stay was 34 days. The overall incidence of FES was 0.14%, and mortality was 10.5%. Post-traumatic FES mainly affected young patients with multiple injuries and long bone fractures. They all had symptoms of the classic clinical triad (respiratory, neurological, rash) after an initial asymptomatic period of less than 2 days. The overall incidence was low. Copyright © 2012 Elsevier España, S.L. All rights reserved.

Diagnosis and Management of Budd Chiari Syndrome: An Update

DOE Office of Scientific and Technical Information (OSTI.GOV)

Copelan, Alexander, E-mail: alexander.copelan@beaumont.edu; Remer, Erick M., E-mail: remere1@ccf.org; Sands, Mark, E-mail: sandsm@ccf.org

Imaging plays a crucial role in the early detection and assessment of the extent of disease in Budd Chiari syndrome (BCS). Early diagnosis and intervention to mitigate hepatic congestion is vital to restoring hepatic function and alleviating portal hypertension. Interventional radiology serves a key role in the management of these patients. The interventionist should be knowledgeable of the clinical presentation as well as key imaging findings, which often dictate the approach to treatment. This article concisely reviews the etiology, pathophysiology, and clinical presentation of BCS and provides a detailed description of imaging and treatment options, particularly interventional management.

Familial Sotos syndrome (cerebral gigantism): craniofacial and psychological characteristics.

PubMed

Bale, A E; Drum, M A; Parry, D M; Mulvihill, J J

1985-04-01

Most reported cases of Sotos syndrome are sporadic, but autosomal dominant and recessive inheritance patterns have been suggested. Ascertainment of a two-generation family through a 7-year-old proposita with a learning disability allowed the relatively unbiased study of two affected relatives. Developmental delay was not pronounced in the patient's mother or sister; craniofacial characteristics at variance with the characteristic description included acrocephaly and maxillary prominence. Steepness of the anterior cranial base angle and protrusion of the middle and lower face, shown in all three patients by cephalometric radiographs, deserve further evaluation as diagnostic criteria.

Prevalence of metabolic syndrome and individual criterion in US adolescents: 2001-2010 National Health and Nutrition Examination Survey.

PubMed

Miller, Joshua M; Kaylor, Mary Beth; Johannsson, Mark; Bay, Curtis; Churilla, James R

2014-12-01

The prevalence of metabolic syndrome has increased in adolescents in previous years. The objectives of this study were to examine the prevalence in the past decade and the individual criteria in a nationally representative sample of US adolescents. This study was a descriptive analysis of 3495 US adolescents between the ages of 12 and 19 years using the National Health and Nutrition Examination Survey (NHANES) 2000-2010. Metabolic syndrome was defined as having three of the five following conditions: Waist circumference (WC),≥90(th) percentile (sex-specific); elevated resting blood pressure,≥90(th) percentile (age, height, sex-specific); elevated triglycerides (TGs); low high-density lipoprotein cholesterol; and/or impaired fasting glucose. Approximately 73.2% of the participants had at least one criterion, with the estimated metabolic syndrome prevalence being 10.1%. Prevalence was higher in males than females (13.0% vs. 6.4%, P<0.05). Both Hispanic males and females had significantly greater odds of metabolic syndrome. Abnormal WC and abnormal TG levels were the most common individual criteria; in comparison, abnormal blood pressure was the least common across racial ethnic backgrounds. An estimated one in 10 US adolescents has metabolic syndrome. These findings have important public health implications due to the known cardiovascular disease risk factors associated with metabolic syndrome.

Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 Mutation.

PubMed

Minoia, Francesca; Bertamino, Marta; Picco, Paolo; Severino, Mariasavina; Rossi, Andrea; Fiorillo, Chiara; Minetti, Carlo; Nesti, Claudia; Santorelli, Filippo Maria; Di Rocco, Maja

2017-01-01

Leigh syndrome (LS) is an early-onset progressive neurodegenerative disorder, characterized by a wide clinical and genetic heterogeneity, and is the most frequent disorder of mitochondrial energy production in children. Beside its great variability in clinical, biochemical, and genetic features, LS is pathologically uniformly characterized by multifocal bilateral and symmetric spongiform degeneration of the basal ganglia, brainstem, thalamus, cerebellum, spinal cord, and optic nerves. Isolated complex I deficiency is the most common defect identified in Leigh syndrome. In 2011, the first child with a mutation of NDUFA10 gene, coding for an accessory subunits of complex I, was described. Here, we present an additional description of a child with Leigh syndrome harboring a homozygous mutation in NDUFA10, providing insights in clinical, biochemical, and neuroradiologic features for future earlier recognition.

Slipping rib syndrome: a place for sonography in the diagnosis of a frequently overlooked cause of abdominal or low thoracic pain.

PubMed

Meuwly, Jean-Yves; Wicky, Stephan; Schnyder, Pierre; Lepori, Domenico

2002-03-01

To describe the sonographic appearance of a poorly recognized cause of low thoracic or upper abdominal pain. Three sonographic descriptions of slipping rib syndrome are presented. The 3 patients had abnormal mobility of a cartilaginous rib, which could slip over an adjacent rib during abdominal muscle contraction. Slipping rib syndrome should be considered in patients with histories of upper abdominal or low thoracic pain of unknown origin. We suggest that high-resolution sonography of the costal margin should be added to abdominal sonography in cases of nonspecific abdominal pain.

Müllerian agenesis with hypohidrotic ectodermal dysplasia syndrome.

PubMed

Whaley, Katie; Winter, Jordan; Eyster, Kathleen M; Hansen, Keith A

2012-04-01

To describe the association of müllerian agenesis with hypohidrotic ectodermal dysplasia. Case report. University medical center. A 17-year-old woman with hypohidrotic ectodermal dysplasia referred for evaluation of primary amenorrhea. History, physical examination, and ultrasound. Physical findings of these two syndromes. Physical examination and ultrasound demonstrated müllerian agenesis with findings of hypohidrotic ectodermal dysplasia. This is the first description of the association of müllerian agenesis with ectodermal dysplasia. This rare case might provide further insight into the development of the uterus and the ectoderm as well as its derivatives. Copyright © 2012 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

Carpal tunnel syndrome: the role of occupational factors.

PubMed

Palmer, Keith T

2011-02-01

Carpal tunnel syndrome (CTS) is a fairly common condition in working-aged people, sometimes caused by physical occupational activities, such as repeated and forceful movements of the hand and wrist or use of hand-held, powered, vibratory tools. Symptoms may be prevented or alleviated by primary control measures at work, and some cases of disease are compensable. Following a general description of the disorder, its epidemiology and some of the difficulties surrounding diagnosis, this review focusses on the role of occupational factors in causation of CTS and factors that can mitigate risk. Areas of uncertainty, debate and research interest are emphasised where relevant. Copyright © 2011 Elsevier Ltd. All rights reserved.

Polycystic ovary syndrome and metabolic syndrome.

PubMed

Ali, Aus Tariq

2015-08-01

Polycystic ovary syndrome (PCOS) is a heterogeneous disorder, where the main clinical features include menstrual irregularities, sub-fertility, hyperandrogenism, and hirsutism. The prevalence of PCOS depends on ethnicity, environmental and genetic factors, as well as the criteria used to define it. On the other hand, metabolic syndrome is a constellation of metabolic disorders which include mainly abdominal obesity, insulin resistance, impaired glucose metabolism, hypertension and dyslipidaemia. These associated disorders directly increase the risk of Type 2 diabetes mellitus (DMT2), coronary heart disease (CHD), cardiovascular diseases (CVD) and endometrial cancer. Many patients with PCOS have features of metabolic syndrome such as visceral obesity, hyperinsulinaemia and insulin resistance. These place patients with PCOS under high risk of developing cardiovascular disease (CVD), Type 2 diabetes (DMT2) and gynecological cancer, in particular, endometrial cancer. Metabolic syndrome is also increased in infertile women with PCOS. The aim of this review is to provide clear and up to date information about PCOS and its relationship with metabolic syndrome, and the possible interaction between different metabolic disorders.

Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome).

PubMed

Koul, Monika; Dwivedi, Rahul; Upadhyay, Vinod

2014-01-01

Ectrodactyly-ectodermal dysplasia- clefting syndrome (also k/a. split hand- split foot malformation /split hand-split foot ectodermal dysplasia- cleft syndrome/ectodermal dysplasia cleft lip/cleft palate syndrome) a rare form of ectodermal dysplasia, is an autosomal dominant disorder inherited as a genetic trait and characterized by a triad of (i) ectrodactyly, (ii) ectodermal dysplasia and, (iii) & facial clefts.

Drug-induced Fanconi syndrome associated with fumaric acid esters treatment for psoriasis: a case series.

PubMed

Balak, Deepak M W; Bouwes Bavinck, Jan Nico; de Vries, Aiko P J; Hartman, Jenny; Neumann, Hendrik A Martino; Zietse, Robert; Thio, Hok Bing

2016-02-01

Fumaric acid esters (FAEs), an oral immunomodulating treatment for psoriasis and multiple sclerosis, have been anecdotally associated with proximal renal tubular dysfunction due to a drug-induced Fanconi syndrome. Few data are available on clinical outcomes of FAE-induced Fanconi syndrome. Descriptive case series with two cases of Fanconi syndrome associated with FAE treatment diagnosed at two Dutch university nephrology departments, three cases reported at the Dutch and German national pharmacovigilance databases and six previously reported cases. All 11 cases involved female patients with psoriasis. The median age at the time of onset was 38 years [interquartile range (IQR) 37-46]. Patients received long-term FAEs treatment with a median treatment duration of 60 months (IQR 28-111). Laboratory tests were typically significant for low serum levels of phosphate and uric acid, while urinalysis showed glycosuria and proteinuria. Eight (73%) patients had developed a hypophosphataemic osteomalacia and three (27%) had pathological bone fractures. All patients discontinued FAEs, while four (36%) patients were treated with supplementation of phosphate and/or vitamin D. Five (45%) patients had persisting symptoms despite FAEs discontinuation. FAEs treatment can cause drug-induced Fanconi syndrome, but the association has been reported infrequently. Female patients with psoriasis treated long term with FAEs seem to be particularly at risk. Physicians treating patients with FAEs should be vigilant and monitor for the potential occurrence of Fanconi syndrome. Measurement of the urinary albumin:total protein ratio is a suggested screening tool for tubular proteinuria in Fanconi syndrome.

Using eye-tracking technology for communication in Rett syndrome: perceptions of impact.

PubMed

Vessoyan, Kelli; Steckle, Gill; Easton, Barb; Nichols, Megan; Mok Siu, Victoria; McDougall, Janette

2018-04-27

Studies have investigated the use of eye-tracking technology to assess cognition in individuals with Rett syndrome, but few have looked at this access method for communication for this group. Loss of speech, decreased hand use, and severe motor apraxia significantly impact functional communication for this population. Eye gaze is one modality that may be used successfully by individuals with Rett syndrome. This multiple case study explored whether using eye-tracking technology, with ongoing support from a team of augmentative and alternative communication (AAC) therapists, could help four participants with Rett syndrome meet individualized communication goals. Two secondary objectives were to examine parents' perspectives on (a) the psychosocial impact of their child's use of the technology, and (b) satisfaction with using the technology. All four participants were rated by the treating therapists to have made improvement on their goals. According to both quantitative findings and descriptive information, eye-tracking technology was viewed by parents as contributing to participants' improved psychosocial functioning. Parents reported being highly satisfied with both the device and the clinical services received. This study provides initial evidence that eye-tracking may be perceived as a worthwhile and potentially satisfactory technology to support individuals with Rett syndrome in communicating. Future, more rigorous research that addresses the limitations of a case study design is required to substantiate study findings.

Williams syndrome

MedlinePlus

... with Williams syndrome may show: A flattened nasal bridge with small upturned nose Long ridges in the ... Alternative Names Williams-Beuren syndrome Images Low nasal bridge Chromosomes and DNA References Morris CA. Williams syndrome. ...

Turner syndrome: From birth to adulthood.

PubMed

Ríos Orbañanos, Isabel; Vela Desojo, Amaia; Martinez-Indart, Lorea; Grau Bolado, Gema; Rodriguez Estevez, Amaya; Rica Echevarria, Itxaso

2015-12-01

Turner syndrome is characterized by a great variability of clinical manifestations caused by a total or partial loss of X-chromosome. A retrospective, descriptive study of the diagnosis, course, and current status of patients with Turner syndrome followed up at our section over the past 40 years, based on review of medical records supplemented with a telephone survey. Forty-five female patients with a current mean age of 22.95years (range 2-38) and a mean age at diagnosis of 4.71 were included. Sixty-three percent of them showed a mosaic karyotype. Short stature was the most common reason for consultation (54%), with increased prenatal diagnosis in most recent cases. Seventy-two percent have been treated with growth hormone, together with oxandrolone in 26%. Final stature was short in 69% of patients. Gonadal failure was found in 66%; most of whom received replacement therapy. Three patients achieved pregnancy by oocyte donation. The 31 adult patients are mainly monitored by the endocrinology (37.5%) and/or gynecology (34.4%) departments. As regards psychosocial aspects, 22% required support during school, and 80% completed middle to high level education. Two patients died, one due to dissecting aortic aneurysm and the other one, who had multiple pathological conditions, from respiratory failure. Short stature is the main cause of diagnosis in patients with Turner syndrome; most cases show genetic mosaicism. The most common clinical manifestations include short stature and gonadal failure. Eighty percent of patients complete middle or high education. In adulthood, follow-up is irregular, sometimes scarce, and clearly improvable. Copyright © 2015 SEEN. Published by Elsevier España, S.L.U. All rights reserved.

Exogenous Cushing syndrome

MedlinePlus

Cushing syndrome - corticosteroid induced; Corticosteroid-induced Cushing syndrome; Iatrogenic Cushing syndrome ... Cushing syndrome is a disorder that occurs when your body has a higher than normal level of the hormone ...

Insomnia is a frequent finding in adults with Asperger syndrome

PubMed Central

Tani, Pekka; Lindberg, Nina; Nieminen-von Wendt, Taina; von Wendt, Lennart; Alanko, Lauri; Appelberg, Björn; Porkka-Heiskanen, Tarja

2003-01-01

Background Asperger syndrome (AS) is a neurodevelopmental disorder belonging to autism spectrum disorders with prevalence rate of 0,35% in school-age children. It has been most extensively studied in childhood while there is scarcity of reports concerning adulthood of AS subjects despite the lifelong nature of this syndrome. In children with Asperger syndrome the initiation and continuity of sleep is disturbed because of the neuropsychiatric deficits inherent of AS. It is probable that sleep difficulties are present in adulthood as well. Our hypothesis was that adults with AS suffer from difficulty in initiating and maintaining sleep and nonrestorative sleep (insomnia). Methods 20 AS without medication were compared with 10 healthy controls devoid of neuropsychiatric anamnesis. Clinical examination, blood test battery and head MRI excluded confounding somatic illnesses. Structured psychiatric interview for axis-I and axis-II disorders were given to both groups as well as Beck Depression Inventory and Wechsler adult intelligence scale, revised version. Sleep quality was assessed with sleep questionnaire, sleep diary during 6 consecutive days and description of possible sleep problems by the participants own words was requested. Results compared with controls and with normative values of good sleep, AS adults had frequent insomnia. In sleep questionnaire 90% (18/20), in sleep diary 75% (15/20) and in free description 85% (17/20) displayed insomnia. There was a substantial psychiatric comorbidity with only 4 AS subject devoid of other axis-I or axis-II disorders besides AS. Also these persons displayed insomnia. It can be noted that the distribution of psychiatric diagnoses in AS subjects was virtually similar to that found among patient with chronic insomnia. Conclusions the neuropsychiatric deficits inherent of AS predispose both to insomnia and to anxiety and mood disorders. Therefore a careful assessment of sleep quality should be an integral part of the treatment

Targets to treat metabolic syndrome in polycystic ovary syndrome

PubMed Central

Mahalingaiah, Shruthi; Diamanti-Kandarakis, Evanthia

2016-01-01

Introduction Metabolic syndrome is comprised of a combination of the following states: increased insulin resistance, dyslipidemia, cardiovascular disease, and increased abdominal obesity. Women with polycystic ovary syndrome (PCOS) have an increased risk of developing metabolic syndrome over the course of their lives. Metabolic syndrome increases risk of major cardiovascular events, morbidity, quality of life, and overall health care costs. Though metabolic syndrome in women with PCOS is an area of great concern, there is no effective individual medical therapeutic to adequately treat this issue. Areas Covered This article will review key aspects of metabolic syndrome in PCOS. We will discuss classic and novel therapeutics to address metabolic syndrome in women with PCOS. We will conclude with the importance of developing strategic interventions to increase the compliance to lifestyle and dietary modification, in addition to appreciation of the emerging pharmaceutical therapeutics available. Expert Opinion Innovation in lifestyle modification, including diet, exercise, with and without dedicated stress reduction techniques is the future in treatment of metabolic syndrome in PCOS. Application of novel interventions, such as group medical care, may improve future adherence to lifestyle modification recommendations, in addition to or in combination with pharmaceutical therapeutics. PMID:26488852

Concurrent Van der Woude syndrome and Turner syndrome: A case report.

PubMed

Los, Evan; Baines, Hayley; Guttmann-Bauman, Ines

2017-01-01

Most cases of Van der Woude syndrome are caused by a mutation to interferon regulatory factor 6 on chromosome 1. Turner syndrome is caused by complete or partial absence of the second sex chromosome in girls. We describe a unique case of the two syndromes occurring concurrently though apparently independently in a girl with Van der Woude syndrome diagnosed at birth and Turner syndrome at 14 years 9 months. Short stature was initially misattributed to Van der Woude syndrome and pituitary insufficiency associated with clefts before correctly diagnosing Turner syndrome. We discuss the prevalence of delayed diagnosis of Turner syndrome, the rarity of reports of concurrent autosomal chromosome mutation and sex chromosome deletion, as well as the need to consider the diagnosis of Turner syndrome in all girls with short stature regardless of prior medical history.

Marfan Syndrome

MedlinePlus

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

Asperger Syndrome in Adolescent and Young Adult Males. Interview, Self- and Parent Assessment of Social, Emotional, and Cognitive Problems

ERIC Educational Resources Information Center

Cederlund, Mats; Hagberg, Bibbi; Gillberg, Christopher

2010-01-01

Descriptive and comparative follow-up studies of young adult males with Asperger syndrome (AS) diagnosed in childhood, using both interview, self- and parent assessment instruments for the study of aspects of emotional well-being, social functioning, and cognitive-practical skills have not been performed in the past. One-hundred males with AS…

Brief Report: Repetitive Behaviour Profiles in Williams Syndrome: Cross Syndrome Comparisons with Prader-Willi and Down Syndromes

ERIC Educational Resources Information Center

Royston, R.; Oliver, C.; Moss, J.; Adams, D.; Berg, K.; Burbidge, C.; Howlin, P.; Nelson, L.; Stinton, C.; Waite, J.

2018-01-01

This study describes the profile of repetitive behaviour in individuals with Williams syndrome, utilising cross-syndrome comparisons with people with Prader-Willi and Down syndromes. The Repetitive Behaviour Questionnaire was administered to caregivers of adults with Williams (n = 96), Prader-Willi (n = 103) and Down (n = 78) syndromes. There were…

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

PubMed

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

Obesity Hypoventilation Syndrome

MedlinePlus

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

Loeys-Dietz Syndrome

MedlinePlus

... to the signs and symptoms of Loeys-Dietz syndrome. Marfan syndrome is different from Loeys-Dietz syndrome in that the gene mutation which causes Marfan syndrome is in fibrillin-1 (FBN-1), a protein ...

Management of Severely Atrophic Maxilla in Ectrodactyly Ectodermal Dysplasia-cleft Syndrome

PubMed Central

Rachmiel, Adi; Emodi, Omri; Aizenbud, Dror; Shilo, Dekel

2018-01-01

Background: Ectrodactyly ectodermal dysplasia-cleft syndrome is a rare genetic syndrome with an incidence of 1/90,000 live births, characterized by cleft lip and palate, severely hypoplastic maxilla, and hypodontia. Patients diagnosed with ectrodactyly ectodermal dysplasia-cleft syndrome suffer from a severely hypoplastic maxilla that is highly difficult to treat using traditional orthognathic methods. In this study, we propose using distraction osteogenesis to achieve a major advancement while maintaining good stability and minimal relapse. To our knowledge, this is the first description of patients with this syndrome treated using distraction osteogenesis. Methods: Five patients diagnosed with ectrodactyly ectodermal dysplasia-cleft syndrome were included in the study. All patients had been operated on according to the well-established protocol of cleft lip and palate reconstruction before maxillary distraction osteogenesis. Hard and soft-tissue changes were evaluated by cone beam computed tomography and lateral cephalograms before distraction osteogenesis (T1), at the postdistraction point (T2) and after 1 year of follow-up (T3). Results: Examination revealed marked maxillary advancement in all our patients with a significant mean difference in hard tissue parameters (condylion to A point = 18 mm; nasion-sella line to A point = 15.2 degrees) and a notable improvement in facial convexity (20.9 degrees). One year follow-up measurements demonstrated mild relapse rates of 6% in the horizontal plane. Conclusions: We conclude that despite the challenging anatomic and physiological features of ectrodactyly ectodermal dysplasia-cleft patients, by enhancing current surgical techniques, there is promising potential for improved patient outcomes, achieving normognathic facial appearance with implant supported rehabilitation. PMID:29616174

'Brain-fag' syndrome: manifestation of transculturation in an Ethiopian Jewish immigrant.

PubMed

Durst, R; Minuchin-Itzigsohn, S; Jabotinsky-Rubin, K

1993-01-01

All cultures have a cognitive map characterizing their people and comprising a framework of orientation values, knowledge, beliefs, and verbal and nonverbal language. In countries such as Israel, where the population constantly varies due to immigration, the cultural framework continuously shifts as it adapts itself to transculturation. The cultural clash is more conspicuous in the field of health where the therapeutic encounter emphasizes the differences between the therapist and the patient. We present a patient who showed a clinical picture of "brain-fag." Ethiopians refer to the brain-fag syndrome as "overworking of the head" due to the strain of studying. Prince, who first described the syndrome in Nigerian students and characterized its symptoms, emphasized that it stems from a cultural clash between African and Western civilizations. Immigration and acculturation, which Ethiopian Jews face, force them to neglect their social and cultural customs and duties or to synthesize them with the new cultural values. A classification of the different types of suicide attempts according to Durkheim (altruistic, anomic & egoistic) and Hollan (indignant) as well as a description of mourning rites and customs of Ethiopian Jewry, and discussion of the brain-fag syndrome unknown to the local mental health system are presented by means of a case illustration. Understanding the phases of ethnic group rituals and clinical syndromes, such as brain-fag, can smooth the absorption process of Ethiopian Jews in Israel, throw light on difficulties immigrants encounter, and facilitate understanding by the absorbing society.

[Overweigth, obesity, metabolic syndrome and waist/height index in health staff].

PubMed

del Pilar Cruz-Domínguez, Maria; González-Márquez, Fabiola; Ayala-López, Ernesto A; Vera-Lastra, Olga Lidia; Vargas-Rendón, Gerardo H; Zárate-Amador, Alfonso; Jara-Quezada, Luis Javier

2015-01-01

Health staff self-applied strategies are insufficiently to reduce cardiovascular risk factors. The aim of this article is to investigate the prevalence of overweight, obesity and metabolic syndrome and waist/height index on health staff. This is a cross-sectional study from January to April 2014 in 735 workers of the UMAE Specialties La Raza. A diagnosis of overweight and obesity was established according to WHO criteria and metabolic syndrome NCEP ATP-III. In 250 participants lipid profile and blood chemistry were obtained. Descriptive statistics was applied, chi square, Student t test or Kruskal-Wallis to compare groups. We included 496 women and 239 men (physicians, nurses and other workers). 38% were overweight; 22% had obesity. We found fasting hyperglycemia>126 mg/dl in 5.1%, between 100-126 mg/dl in 17.4%, hypertriglyceridemia in 40.4%; HDL cholesterol<40 mg/dl 66% in men and HDL cholesterol<50 mg/dl 51.4% in women. Waist measurement was 93±11 cm in men vs. 88±13 m in women. The waist/height index in the ideal weight group was 0.048±0.04, for overweight 0.55±0.04 and for obesity 0.65±0.064 (p<0.01). Metabolic syndrome prevalence was 30.6%, smoking 21.6% and alcohol consumption 35%. The prevalence of obesity-overweight was 60% and metabolic syndrome 30%, making it necessary to take immediate actions to modify the lifestyle of health staff.

Top-100 cited articles on Guillain-Barré syndrome: a bibliometric analysis.

PubMed

Kim, Jee-Eun; Kim, Jong Kuk; Park, Kang Min; Kim, Yerim; Yoon, Dae Young; Bae, Jong Seok

2016-12-01

Since the first description of Guillain-Barré syndrome (GBS) 100 years ago, the concept of this syndrome has changed remarkably. The purpose of our study was to identify and characterize the most-cited articles that have contributed to advancing the understanding of GBS. Based on the database of Journal Citation Reports, we selected 554 journals that were considered as potential sources of reports on studies related to clinical neurology and general medicine. The Web of Science search tools were used to identify the most-cited articles relevant to GBS or other variants in the selected journals. Of the selected articles, 18 were review articles and the remainder were original articles or included only a few case series. Among the original articles, 13 described basic research associated with immunological pathogenesis involving anti-ganglioside antibodies. Most of the original studies (42/64, 66%) published after 1990 evaluated anti-ganglioside antibodies that mediated axonal GBS or Miller Fisher syndrome, with only a small number of the papers involving electrodiagnostic medicine (n = 4). Our bibliometric analysis has yielded a detailed list of the top-100 cited articles in the field of GBS. © 2016 Peripheral Nerve Society.

Descriptive statistics.

PubMed

Nick, Todd G

2007-01-01

Statistics is defined by the Medical Subject Headings (MeSH) thesaurus as the science and art of collecting, summarizing, and analyzing data that are subject to random variation. The two broad categories of summarizing and analyzing data are referred to as descriptive and inferential statistics. This chapter considers the science and art of summarizing data where descriptive statistics and graphics are used to display data. In this chapter, we discuss the fundamentals of descriptive statistics, including describing qualitative and quantitative variables. For describing quantitative variables, measures of location and spread, for example the standard deviation, are presented along with graphical presentations. We also discuss distributions of statistics, for example the variance, as well as the use of transformations. The concepts in this chapter are useful for uncovering patterns within the data and for effectively presenting the results of a project.

Refeeding syndrome.

PubMed

Fernández López, M T; López Otero, M J; Alvarez Vázquez, P; Arias Delgado, J; Varela Correa, J J

2009-01-01

Refeeding syndrome is a complex syndrome that occurs as a result of reintroducing nutrition (oral, enteral or parenteral) to patients who are starved or malnourished. Patients can develop fluid-balance abnormalities, electrolyte disorders (hypophosphataemia, hypokalaemia and hypomagnesaemia), abnormal glucose metabolism and certain vitamin deficiencies. Refeeding syndrome encompasses abnormalities affecting multiple organ systems, including neurological, pulmonary, cardiac, neuromuscular and haematological functions. Pathogenic mechanisms involved in the refeeding syndrome and clinical manifestations have been reviewed. We provide suggestions for the prevention and treatment of refeeding syndrome. The most important steps are to identify patients at risk, reintroduce nutrition cautiously and correct electrolyte and vitamin deficiencies properly.

Pre-Menstrual Syndrome in Women with Down Syndrome

ERIC Educational Resources Information Center

Mason, Linda; Cunningham, Cliff

2009-01-01

Background: Prevalence of pre-menstrual syndrome (PMS) may be higher in women with Down syndrome due to syndrome specific characteristics in biochemistry, psychopathology and lifestyle. Recognition of PMS may be difficult for women with intellectual disabilities and their carers. Method: A daily diary, used to diagnose PMS with typical women, was…

Protective Role of Angiogenin Against Hematopoietic Syndrome of the Acute Radiation Syndrome

DTIC Science & Technology

2016-09-01

Syndrome of the Acute Radiation Syndrome PRINCIPAL...SUBTITLE 5a. CONTRACT NUMBER Protective Role of Angiogenin Against Hematopoietic Syndrome of the Acute Radiation Syndrome 5b. GRANT NUMBER W81XWH-15...protective role against hematopoietic syndrome of the acute radiation syndrome (H-ARS) and is able to attenuate the effect of residual bone marrow

Preservice Elementary Teachers Increase Descriptive Science Vocabulary by Making Descriptive Adjective Object Boxes

ERIC Educational Resources Information Center

Rule, Audrey C.; Crisafulli, Sherry; DeCare, Heather; DeLeo, Tonya; Eastman, Keri; Farrell, Liz; Geblein, Jennifer; Gioia, Chelsea; Joyce, Ashley; Killian, Kali; Knoop, Kelly; LaRocca, Alison; Meyer, Katie; Miller, Julianne; Roth, Vicki; Throo, Julie; Van Arsdale, Jim; Walker, Malissa

2007-01-01

Descriptive vocabulary is needed for communication and mental processing of science observations. Elementary preservice teachers in a science methods class at a mid-sized public college in central New York State increased their descriptive vocabularies through a course assignment of making a descriptive adjective object box. This teaching material…

Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome).

PubMed

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

2016-06-01

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

[Metabolic syndrome in adults from 20 to 40 years old in a rural Mexican community].

PubMed

Echavarría-Pinto, Mauro; Hernández-Lomelí, Adrián; Alcocer-Gamba, Marco Antonio; Morales-Flores, Héctor; Vázquez-Mellado, Alberto

2006-01-01

Metabolic syndrome is the main health problem in Mexico. Its two principal complications (ischemic cardiopathy and type-2 diabetes) are the two main causes of death in Mexico since 2000. To describe the prevalence of the metabolic syndrome in adults from 20 to 40 years old in a Mexican rural community (Senegal de Palomas, San Juan del Río, Querétaro) using the National Cholesterol Education Program (NCEP III) definition. A descriptive study with a random sample was carried out. We present a univariate analysis with a 95% confidence interval. 73 cases were studied. The prevalence of the metabolic syndrome was 45.2% slightly higher in men (48.4%) than in women (42.8%). The prevalence of hypertension was 27.3%. The prevalence of obesity was 26.1% using the definition of the WHO and this prevalence rises up to 49.4% using the definition of the Mexican Official Norm. 90.5% of women and 93.5% of men had low HDLc. The prevalence of metabolic syndrome in adults from 20 to 40 years old in this Mexican rural community is much higher than the national mean for the same age cohort. The results show the necessity to increase the research of our rural communities in order to identify the possible causes to this problem and to create therapeutic programs for patients with metabolic syndrome.

Effect of acupressure vs reflexology on pre-menstrual syndrome among adolescent girls--a pilot study.

PubMed

Padmavathi, P

2014-01-01

Premenstrual syndrome is the most common of gynaecologic complaints. It affects half of all female adolescents today and represents the leading cause of college/school absenteeism among that population. It was sought to assess the effectiveness of acupressure Vs reflexology on premenstrual syndrome among adolescents. Two-group pre-test and post-test true experimental design was adopted for the study. Forty adolescent girls from Government Girls Secondary School, Erode with pre- menstrual syndrome fulfilling the inclusion criteria were selected by simple random sampling. A pre-test was conducted by using premenstrual symptoms assessment scale. Immediately after pre-test acupressure Vs reflexology was given once a week for 6 weeks and again post-test was conducted to assess the effectiveness of treatment. Collected data was analysed by using descriptive and inferential statistics. In post-test, the mean score of the experimental group I sample was 97.3 (SD = 2.5) and the group II mean score was 70:8 (SD = 10.71) with paired 't' value of 19.2 and 31.9. This showed that the reflexology was more effective than acupressure in enhancing the practice of the sample regarding pre-menstrual syndrome. Statistically no significant association was found between the post-test scores of the sample with their demographic variables. The findings imply the need for educating adolescent girls on effective management of pre-menstrual syndrome.

Depressive syndromes among female caregivers of schizophrenic patients in prof. dr. m. ildrem mental hospital medan

NASA Astrophysics Data System (ADS)

Handi, A.; Husada, M. S.; Gultom, D. P.

2018-03-01

Caring for schizophrenic patients can lead to emotional distress. It remains unclear about the level of depressive syndromes among female caregivers of schizophrenic patients. To determine the level of depression among female caregivers of schizophrenic patients. This is a descriptive study with a cross-sectional approach to describe the level of depression of female caregivers in Prof. dr. M. Ildrem Mental Hospital Medan, using HADS instruments. Most age group of caregivers is from age 51-60 years that is 48.15%, caregiver’s work status mostly not works (62.96%), marital status of caregiver mostly is married (59.26%), kinship with most patients are a biological mother (57.41%). Most patient age group is from age below 30 years (50%), work status of most patients is not working (81.48%), marital status of most caregiver is married (83.33%). Mostly of the depressive syndrome is mild depression (42.59%). Mostly of the depressive syndrome is from mild depression.

[Arterial hypertension and sleep apnea hypopnea syndrome in primary care].

PubMed

Bayó Llibre, J; Riel Cabrera, R; Mellado Breña, E; Filomena Paci, J; Priego Artero, M; García Alfaro, F J; Grau Granero, J M; Vázquez González, D; López Solana, J; Fernández San Martín, M I

2015-01-01

Sleep apnea hypopnea syndrome (SAHS) is frequent in hypertensive patients and plays a role in a greater incidence of cardiovascular morbidity-mortality. This study aims to know the clinical profile of hypertensive patients with SAHS compared to hypertensive patients without SAHS to know which variables should be used to orient their screening from primary care. An observational, descriptive, retrospective study of cases (hypertensive patients with SAHS) and controls (hypertensive patients without) was performed in an urban health care center. Based on a computerized registry of the site, patients diagnosed of SAHS and hypertension over 30 years of age were selected. For each case, one control case of hypertensive patients without SAHS paired by age and gender was randomly obtained. A total of 64 cases and 64 controls were selected. Standing out in the bivariate analysis were greater BMI (34.3±12.8 vs. 28.6±3.6), predominance of obesity (70.3 vs. 35.9%), metabolic syndrome (77.3 vs. 42.2%), consumption of psychopharmaceuticals (19.7 vs. 7.8%) and anithypertensive drugs (26.5 vs. 14.0%), ischemic heart disease (20.3 vs. 9.4%) in the case group versus control group (P<.05 for all the variables). The multivariate analysis showed that only the presence of metabolic syndrome was related with the presence of SAHS in hypertensive patients (OR 4.65; 95% CI: 2.03-10.64; P<.001). Screening for SAHS should be performed in hypertensive patients seen in primary care if they have metabolic syndrome criteria. Copyright © 2014 SEHLELHA. Published by Elsevier Espana. All rights reserved.

Ehlers-Danlos Syndrome

MedlinePlus

... Danlos syndrome care at Mayo Clinic Symptoms Classic Ehlers-Danlos syndrome Signs and symptoms of the most common form ... but few or none of the skin symptoms. Ehlers-Danlos syndrome, vascular type People who have Ehlers-Danlos syndrome, ...

The short arm deletion syndrome of chromosome 4 (4p- syndrome).

PubMed

Zellweger, H; Bardach, J; Bordwell, J; Williams, K

1975-01-01

Partial deletion of the short arm of chromosome 4 (4p-) represents another (rare) cause of cleft lip and cleft palate. Further characteristic manifestations of the syndrome (also called Wolf or Wolf-Hirschhorn syndrome) are growth failure, microcephaly, prominent glabella, hypertelorism, beaked nose, poorly differentiated and low set ears, cardiac and renal malformation and hypospadias. Life expectancy is often shortened. The 4p- syndrome has many features in common with another deletion syndrome, the cri-du-chat syndrome, and also with the Smith-Lemli-Opitz syndrome. The latter is a hereditary condition with normal karyotype. The cri-du-chat syndrome is characterized by a peculiar high-pitched, mewing cry and can be differentiated from the Wolf syndrome by the different staining characteristics (banding) of chromosomes 4 and 5.

Ferritin light chain gene mutations in two Brazilian families with hereditary hyperferritinemia-cataract syndrome

PubMed Central

Petroni, Roberta Cardoso; da Rosa, Susana Elaine Alves; de Carvalho, Flavia Pereira; Santana, Rúbia Anita Ferraz; Hyppolito, Joyce Esteves; Nascimento, Claudia Mac Donald Bley; Hamerschlak, Nelson; Campregher, Paulo Vidal

2017-01-01

ABSTRACT Hereditary hyperferritinemia-cataract syndrome is an autosomal dominant genetic disorder associated with mutations in the 5’UTR region of the ferritin light chain gene. These mutations cause the ferritin levels to increase even in the absence of iron overload. Patients also develop bilateral cataract early due to accumulation of ferritin in the lens, and many are misdiagnosed as having hemochromatosis and thus not properly treated. The first cases were described in 1995 and several mutations have already been identified. However, this syndrome is still a poorly understood. We report two cases of unrelated Brazilian families with clinical suspicion of the syndrome, which were treated in our department. For the definitive diagnosis, the affected patients, their parents and siblings were submitted to Sanger sequencing of the 5’UTR region for detection of the ferritin light gene mutation. Single nucleotide polymorphism-like mutations were found in the affected patients, previously described. The test assisted in making the accurate diagnosis of the disease, and its description is important so that the test can be incorporated into clinical practice. PMID:28746593

Gross and fine motor skills of children with Hurler syndrome (MPS-IH) post umbilical cord blood transplantation: a case series report.

PubMed

Dusing, Stacey C; Rosenberg, Angela; Hiemenz, Jennifer R; Piner, Shelley; Escolar, Maria

2005-01-01

Recent advancements in medical treatment of Hurler syndrome have resulted in longer life expectancies and a greater need for therapeutic services. The purpose of this case series is to provide recommendations for assessing children with Hurler syndrome after umbilical cord blood transplant (UCBT). CLINICAL DESCRIPTIONS: Two children with Hurler syndrome were seen for longitudinal assessments following an UCBT for Hurler syndrome. The raw scores and percentage of fine and gross motor items each child completed on the Motor Scale of the Bayley Scales of Infant Development II (BSID-II) were reviewed. Both children gained new motor skills with each successive motor assessment. Both children were able to complete a higher percentage of fine motor skills than gross motor skills in the most advanced item set assessed. The children presented in these two case reports both had better fine motor skills than gross motor skills, which inflated their standard scores on the BSID-II. Clinicians assessing children with Hurler syndrome should use standardized assessments that allow for differentiation of fine and gross motor skills to prevent this situation.

Fournier gangrene associated with hyper IgE syndrome (Job syndrome).

PubMed

Hori, Junichi; Yamaguchi, Satoshi; Watanabe, Masaki; Osanai, Hiroaki; Hori, Masako

2008-04-01

We report a case of a 32-year-old man with hyper IgE syndrome (Job syndrome) who developed Fournier gangrene due to infectious multiple atheromas of the scrotal skin that progressed to the right groin and thigh. The patient required surgical debridement and subsequent skin grafting. This is a rare case of Fournier gangrene associated with hyper IgE syndrome (Job syndrome). When a patient without diabetes mellitus has repeated infections and atopic-like dermatitis, Job syndrome should be considered.

Down Syndrome

MedlinePlus

... Down syndrome increases as a woman gets older. Down syndrome cannot be cured. Early treatment programs can help improve skills. They may include ... occupational, and/or educational therapy. With support and treatment, many ... Down syndrome live happy, productive lives. NIH: National Institute of ...

TAFRO Syndrome.

PubMed

Igawa, Takuro; Sato, Yasuharu

2018-02-01

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

[Diogenes syndrome and Hoarding disorder: Same or different?

PubMed

Lavigne, B; Hamdan, M; Faure, B; Merveille, H; Pareaud, M; Tallon, E; Bouthier, A; Clément, J-P; Calvet, B

2016-10-01

patients suffering from excessive hoarding had a relative with a dimension of hoarding. Finally, Mattaix-Cols et al. decided to create a new syndrome in the DSM-5, and the Hoarding disorder was born. The discussion begins with relationships between the Hoarding disorder and the Diogenes syndrome. A patient with hoarding, and a poor insight, could be very isolated, and could persist in a lack of calling for help, because of not being aware of his pathology. Thus, it could be diagnosed as a Hoarding syndrome with a poor insight, or as a Diogenes syndrome, with the first major criterion (lack of calling for help) and one of the three minor criteria, the syllogomania, or hoarding. Moreover, some authors have described old people living for many years with a tendency to hoard. Progressively, some of them had a congested and cluttered home, and a few were living in squalor, a description very close to the Diogenes syndrome. Finally, we discuss the comorbidity of Hoarding disorder and Diogenes syndrome. In particular, the first one is associated with Attention deficit and hyperactivity disorders; and some authors also described the links between ADHD, bipolar disorder and frontotemporal dementia which is one of the aetiologies of the Diogenes syndrome. A psychodynamic model in which ADHD, Hoarding disorder and Diogenes syndrome are linked can be imagined, and the last one could be an overlooked evolution of the two first syndromes. In conclusion, we can imagine a dimensional model, based on two dimensions: hoarding and squalor. Hoarding disorder is the major expression of the first dimension, and Diogenes syndrome the major expression of the second. Both of them could be a different expression of one central aetiology. More studies are needed to complete this vision. Copyright © 2016 L'Encéphale, Paris. Published by Elsevier Masson SAS. All rights reserved.

Development and characteristics of children with Usher syndrome and CHARGE syndrome.

PubMed

Dammeyer, Jesper

2012-09-01

Individuals with Usher syndrome or CHARGE syndrome are faced with a number of difficulties concerning hearing, vision, balance, and language development. The aim of the study is to describe the developmental characteristics of children with Usher syndrome and CHARGE syndrome, respectively. Data about the developmental characteristics of 26 children with Usher syndrome and 17 children with CHARGE syndrome was obtained. Associations between deafblindness (dual sensory loss), motor development (age of walking), language abilities, and intellectual outcome of these children were explored for each group independently. Both groups of children face a number of difficulties associated with vision, hearing, language, balance and intellectual outcome. Intellectual disability and/or language delay was found among 42% of the children with Usher syndrome and among 82% of the children with CHARGE syndrome. Intellectual disability was associated with language delay and age of walking for both groups. Even though Usher and CHARGE are two different genetic syndromes, both groups are challenged with a number of similar developmental delays. Clinicians need to be aware of several developmental issues in order to offer adequate support to children with Usher or CHARGE syndrome. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

A descriptive social and health profile of a community sample of adults and adolescents with Asperger syndrome

PubMed Central

2010-01-01

Background Little is known about the health and social profile of adolescents and adults with Asperger syndrome (AS) living in the community. We conducted a study to describe the living, employment and psycho-social situation of a community sample of forty two adults and adolescents with AS, and to describe these indivdiuals' experiences of accessing health services and taking medication. Findings Most respondents (including those over eighteen years of age) lived at home with their parents. Most had trouble reading and responding to other people's feelings, and coping with unexpected changes. Difficulties with life skills, such as cleaning, washing and hygiene were prevalent. The majority of respondents were socially isolated and a large minority had been sexually or financially exploited. Almost all respondents had been bullied. Mental health problems such as anxiety or depression were common. 30% of respondents said that they regularly became violent and hit other people and 15% had attempted suicide. More positively, the majority of respondents felt that they could access health services if they had a health problem. Conclusions The results of this study suggest a relatively poor social and health profile for many people with Asperger syndrome living in the community, with high levels of social problems and social exclusion, and difficulties managing day to day tasks such as washing and cleaning; these findings support the results of other studies that have examined psycho-social functioning in this group. PMID:21070680

Pregnancy outcome in joint hypermobility syndrome and Ehlers-Danlos syndrome.

PubMed

Sundelin, Heléne E K; Stephansson, Olof; Johansson, Kari; Ludvigsson, Jonas F

2017-01-01

An increased risk of preterm birth in women with joint hypermobility syndrome or Ehlers-Danlos syndrome is suspected. In this nationwide cohort study from 1997 through 2011, women with either joint hypermobility syndrome or Ehlers-Danlos syndrome or both disorders were identified through the Swedish Patient Register, and linked to the Medical Birth Register. Thereby, 314 singleton births to women with joint hypermobility syndrome/Ehlers-Danlos syndrome before delivery were identified. These births were compared with 1 247 864 singleton births to women without a diagnosis of joint hypermobility syndrome/Ehlers-Danlos syndrome. We used logistic regression, adjusted for maternal age, smoking, parity, and year of birth, to calculate adjusted odds ratios for adverse pregnancy outcomes. Maternal joint hypermobility syndrome/Ehlers-Danlos syndrome was not associated with any of our outcomes: preterm birth (adjusted odds ratio = 0.6, 95% confidence interval 0.3-1.2), preterm premature rupture of membranes (adjusted odds ratio = 0.8; 95% confidence interval 0.3-2.2), cesarean section (adjusted odds ratio = 0.9, 95% confidence interval 0.7-1.2), stillbirth (adjusted odds ratio = 1.1, 95% confidence interval 0.2-7.9), low Apgar score (adjusted odds ratio = 1.6, 95% confidence interval 0.7-3.6), small for gestational age (adjusted odds ratio = 0.9, 95% confidence interval 0.4-1.8) or large for gestational age (adjusted odds ratio = 1.2, 95% confidence interval 0.6-2.1). Examining only women with Ehlers-Danlos syndrome (n = 62), we found a higher risk of induction of labor (adjusted odds ratio = 2.6; 95% confidence interval 1.4-4.6) and amniotomy (adjusted odds ratio = 3.8; 95% confidence interval 2.0-7.1). No excess risks for adverse pregnancy outcome were seen in joint hypermobility syndrome. Women with joint hypermobility syndrome/Ehlers-Danlos syndrome do not seem to be at increased risk of adverse pregnancy outcome. © 2016 Nordic Federation of

[Poland's syndrome].

PubMed

Slezak, R; Sasiadek, M

2000-08-01

Poland's syndrome consists of the variable clinical features, but always includes unilateral aplasia of the chest wall muscles and ipsilateral anomalies of upper extremity. The incidence of Poland's syndrome, reported by different authors ranges from 1:10,000 to 1:100,000 and is observed more frequently in males than in females with the right side of the body affected more often than the left. The etiology of this syndrome is still discussed. However most of described cases were sporadic, rare familial incidence of Poland's syndrome were also presented. Therefore different etiologic factors of the Poland's syndrome are taken into account: genetic, vascular compromise during early stages of embriogenesis but also teratogenic effect of environmental xenobiotics (e.g. cigarette smoking by pregnant women). The authors present also the case of 20-years old man with inherited bilateral syndactyly with the right side aplasia of major pectoralis muscle and face asymmetry. The familial history was negative in respect to the features, associated with Poland's syndrome.

[Contribution to the diagnosis of Dubin-Johnson syndrome].

PubMed

Lanosa, R A; Mazzini, O; Pietrángelo, C; Celia, E J; Monserrat, J M

1980-01-01

Eight patients with Dubin-Johnson's syndrome have been reported. It appoints the greatest casuistry about the theme in our country. The coincidence covers all the aspects of the disease except by the fact that we emphasize, as a matter of interest, that we were able to visualize the gallblader and the biliary tract through oral cholecystography visualize the gallblader and the biliary tract through oral cholecystography or through intravenous cholangiography, in all the patients who have been studied. It doesn't agree with the class descriptions in which these exams have negative results. So we point out the possibility of this disease's existence in spite of the radiographic visulaization of biliary tract, particularly in those patients with moderated hepatic pigment-deposit. Refering to pathologic anathomy we remark the importance in the search of the pigment charactiristic of the Dublin-Johnson's syndrome in all the liver histopathologic exams. Besides, we consider it valuable to make the Fontana-Masson coloration in those patients who present negative pigment reaction to iron. The systematic examinations of the cytoplasmatic pigments will allow us to diagnose the disease even in the cases with minimum and latent characteristics.

Joint attention in Down syndrome: A meta-analysis.

PubMed

Hahn, Laura J; Loveall, Susan J; Savoy, Madison T; Neumann, Allie M; Ikuta, Toshikazu

2018-07-01

Some studies have indicated that joint attention may be a relative strength in Down syndrome (DS), but other studies have not. To conduct a meta-analysis of joint attention in DS to more conclusively determine if this is a relative strength or weakness when compared to children with typical development (TD), developmental disabilities (DD), and autism spectrum disorder (ASD). Journal articles published before September 13, 2016, were identified by using the search terms "Down syndrome" and "joint attention" or "coordinating attention". Identified studies were reviewed and coded for inclusion criteria, descriptive information, and outcome variables. Eleven studies (553 participants) met inclusion criteria. Children with DS showed similar joint attention as TD children and higher joint attention than children with DD and ASD. Meta-regression revealed a significant association between age and joint attention effect sizes in the DS vs. TD contrast. Joint attention appears to not be a weakness for children with DS, but may be commensurate with developmental level. Joint attention may be a relative strength in comparison to other skills associated with the DS behavioral phenotype. Early interventions for children with DS may benefit from leveraging joint attention skills. Copyright © 2018 Elsevier Ltd. All rights reserved.

[Gardner syndrome--parent alienation syndrome (PAS). Diagnosis or family reality?].

PubMed

Namysłowska, Irena; Heitzman, Janusz; Siewierska, Anna

2009-01-01

The authors present characteristics of Parental Alienation Syndrome (PAS) proposed by Gardner as well as data, which may help to differentiate that syndrome with real psychological, physical and sexual abuse. The consequences of Gardner Syndrome for legal decisions in the court cases of child custody and the critique of this syndrome in forensic and psychiatric literature are also discussed, and several questions posed. Authors propose to treat Gardner Syndrome not as as a child disorder but as a specific, dynamic family situation, which occurs sometimes, during divorce and fight about child custody.

Protective Role of Angiogenin Against Hematopoietic Syndrome of the Acute Radiation Syndrome

DTIC Science & Technology

2017-05-01

AWARD NUMBER: W81XWH-15-1-0207 TITLE: “Protective Role of Angiogenin Against Hematopoietic Syndrome of the Acute Radiation Syndrome ...SUBTITLE Protective Role of Angiogenin Against Hematopoietic Syndrome 5a. CONTRACT NUMBER of the Acute Radiation Syndrome 5b. GRANT NUMBER 5c...hematopoietic syndrome of the acute radiation syndrome (H-ARS) and is able to attenuate the effect of residual bone marrow damage (RBMD) after

Burning Mouth Syndrome and "Burning Mouth Syndrome".

PubMed

Rifkind, Jacob Bernard

2016-03-01

Burning mouth syndrome is distressing to both the patient and practitioner unable to determine the cause of the patient's symptoms. Burning mouth syndrome is a diagnosis of exclusion, which is used only after nutritional deficiencies, mucosal disease, fungal infections, hormonal disturbances and contact stomatitis have been ruled out. This article will explore the many causes and treatment of patients who present with a chief complaint of "my mouth burns," including symptomatic treatment for those with burning mouth syndrome.

Lethal pallister-killian syndrome: Phenotypic similarity with fryns syndrome

DOE Office of Scientific and Technical Information (OSTI.GOV)

Ignacio Rodriquez, J.; Garcia, I.; Alvarez, J.

1994-11-01

The Pallister-Killian syndrome is a sporadic multiple congenital anomaly syndrome characterized by {open_quotes}coarse{close_quotes} face, profound mental retardation, and epilepsy. Chromosomes of peripheral lymphocytes are usually normal, but tissue cultures show varying degrees of mosaicism for isochromosome 12p. In babies who die neonatally of severe malformations, including diaphragmatic hernia, and who also have a {open_quotes}coarse{close_quotes} face, acral hypoplasia, and other internal anomalies, Fryns syndrome is more likely to be suspected than Pallister-Killian syndrome, especially if karyotyping is unavailable or if peripheral lumphocytes have a normal chromosome constitution. An initial diagnosis of Fryns syndrome had to be modified in 3 successive newbornmore » infants since chromosome analysis or in situ hybridization with a chromosome 12 probe on kidney tissue demonstrated the mosaic aneuploidy characteristic of Pallister-Killian syndrome. These 3 patients confirm that a similar pattern of malformations can be present in both conditions at birth. It consists of {open_quotes}coarse{close_quotes} face, acral hypoplasia, diaphragmatic hernia, and other defects. Newborn infants who present this phenotype, but lack a conclusively normal chromosome test, may not have Fryns syndrome. A diagnosis of Fryns syndrome should be made carefully to avoid the risk of inappropriate genetic counseling. 31 refs., 10 figs., 1 tab.« less

Phenotype-genotype analysis of cryopyrin-associated periodic syndromes (CAPS): description of a rare non-exon 3 and a novel CIAS1 missense mutation.

PubMed

Jesus, Adriana A; Silva, Clovis A; Segundo, Gesmar R; Aksentijevich, Ivona; Fujihira, Erika; Watanabe, Mônica; Carneiro-Sampaio, Magda; Duarte, Alberto J S; Oliveira, João B

2008-03-01

We describe in this paper the phenotype-genotype analysis of a Brazilian cohort of patients with cryopyrin-associated periodic syndromes (CAPS). Patient 1 presented with an urticarial rash and recurrent fever exacerbated by cold weather, arthritis, and anterior uveitis, thus, receiving a clinical diagnosis of familial cold autoinflammatory syndrome. CIAS1 sequencing identified the T436I mutation, previously associated to a clinical phenotype of chronic infantile neurological cutaneous and articular/neonatal onset multisystem inflammatory disease. Patient 2 developed a papular exanthema with daily fever shortly after birth, frontal bossing, patellae enlargement, and cognitive and motor impairments. Sequencing identified the exceedingly rare G755R CIAS1 mutation in exon 4. Patient 3 developed skin rash and articular symptoms 6 h after birth, followed by aseptic meningitis. He was found to have the novel C148Y missense mutation in CIAS1. This report expands the spectrum of CIAS1 mutations associated to clinical disease, suggests that the same mutation can be associated with different clinical syndromes, and supports the evidence that CAPS patients should always be screened for mutations outside exon 3.

[Haemolytic uremic syndrome and thrombotic thrombocytopenic purpura: classification based on molecular etiology and review of recent developments in diagnostics].

PubMed

Prohászka, Zoltán

2008-07-06

Haemolytic uremic syndrome and thrombotic thrombocytopenic purpura are overlapping clinical entities based on historical classification. Recent developments in the unfolding of the pathomechanisms of these diseases resulted in the creation of a molecular etiology-based classification. Understanding of some causative relationships yielded detailed diagnostic approaches, novel therapeutic options and thorough prognostic assortment of the patients. Although haemolytic uremic syndrome and thrombotic thrombocytopenic purpura are rare diseases with poor prognosis, the precise molecular etiology-based diagnosis might properly direct the therapy of the affected patients. The current review focuses on the theoretical background and detailed description of the available diagnostic possibilities, and some practical information necessary for the interpretation of their results.

Multimedia content description framework

NASA Technical Reports Server (NTRS)

Bergman, Lawrence David (Inventor); Mohan, Rakesh (Inventor); Li, Chung-Sheng (Inventor); Smith, John Richard (Inventor); Kim, Michelle Yoonk Yung (Inventor)

2003-01-01

A framework is provided for describing multimedia content and a system in which a plurality of multimedia storage devices employing the content description methods of the present invention can interoperate. In accordance with one form of the present invention, the content description framework is a description scheme (DS) for describing streams or aggregations of multimedia objects, which may comprise audio, images, video, text, time series, and various other modalities. This description scheme can accommodate an essentially limitless number of descriptors in terms of features, semantics or metadata, and facilitate content-based search, index, and retrieval, among other capabilities, for both streamed or aggregated multimedia objects.

Marfan Syndrome (For Teens)

MedlinePlus

... genetic disorder called Marfan syndrome. What Is Marfan Syndrome? Marfan syndrome is named after Antoine Marfan, the French ... immediately. What's Life Like for Teens With Marfan Syndrome? Marfan syndrome affects people differently, so life is not ...

Swyer-James syndrome associated with Noonan syndrome: report of a case.

PubMed

Lin, Y M; Huang, W L; Hwang, J J; Ko, Y L; Lien, W P

1995-12-01

A 28-year-old man with Noonan syndrome associated with unilateral hyperlucent lung is reported. He had the typical craniofacial appearance and short stature of Noonan syndrome; he had mild mental retardation, atrophic testis, mild funnel chest and kyphosis. cardiovascular abnormalities included asymmetric hypertrophic cardiomyopathy and a significantly different caliber of the left and right pulmonary arteries. The unilateral hyperlucent lung was shown to result from acquired nondestructive emphysema caused by nonvalvular obstruction of the bronchi (Swyer-James syndrome or Macleod's syndrome). To the authors' knowledge, this is the first reported case of Noonan syndrome associated with Swyer-James syndrome.

Divorce in families of children with Down Syndrome or Rett Syndrome.

PubMed

Lederman, Vivian Renne Gerber; Alves, Bianca dos Santos; Negrão, Juliana; Maria, Juliana Negrão; Schwartzman, José Salomão; D'Antino, Maria Eloisa Famá; Brunoni, Decio

2015-05-01

This study evaluates the impact in the stability and management of the marriage of parents of a child with Down or Rett Syndrome. Morbidity of the syndromes and the marital status of the couples before and after the birth of the affected children were considered variables. The divorce rate in families with Down syndrome was 10%, similar to the Brazilian rate population. In Rett Syndrome, the divorce rate was significantly higher, 23.5%. The higher morbidity of Rett Syndrome, and the moment of diagnosis could be relevant factors for the increased divorce rate related to this syndrome.

Drug-induced Fanconi syndrome associated with fumaric acid esters treatment for psoriasis: a case series

PubMed Central

Balak, Deepak M.W.; Bouwes Bavinck, Jan Nico; de Vries, Aiko P.J.; Hartman, Jenny; Neumann, Hendrik A. Martino; Zietse, Robert; Thio, Hok Bing

2016-01-01

Background Fumaric acid esters (FAEs), an oral immunomodulating treatment for psoriasis and multiple sclerosis, have been anecdotally associated with proximal renal tubular dysfunction due to a drug-induced Fanconi syndrome. Few data are available on clinical outcomes of FAE-induced Fanconi syndrome. Methods Descriptive case series with two cases of Fanconi syndrome associated with FAE treatment diagnosed at two Dutch university nephrology departments, three cases reported at the Dutch and German national pharmacovigilance databases and six previously reported cases. Results All 11 cases involved female patients with psoriasis. The median age at the time of onset was 38 years [interquartile range (IQR) 37–46]. Patients received long-term FAEs treatment with a median treatment duration of 60 months (IQR 28–111). Laboratory tests were typically significant for low serum levels of phosphate and uric acid, while urinalysis showed glycosuria and proteinuria. Eight (73%) patients had developed a hypophosphataemic osteomalacia and three (27%) had pathological bone fractures. All patients discontinued FAEs, while four (36%) patients were treated with supplementation of phosphate and/or vitamin D. Five (45%) patients had persisting symptoms despite FAEs discontinuation. Conclusions FAEs treatment can cause drug-induced Fanconi syndrome, but the association has been reported infrequently. Female patients with psoriasis treated long term with FAEs seem to be particularly at risk. Physicians treating patients with FAEs should be vigilant and monitor for the potential occurrence of Fanconi syndrome. Measurement of the urinary albumin:total protein ratio is a suggested screening tool for tubular proteinuria in Fanconi syndrome. PMID:26798466

Basal cell nevus syndrome or Gorlin syndrome.

PubMed

Thalakoti, Srikanth; Geller, Thomas

2015-01-01

Basal cell nevus syndrome (BCNS) or Gorlin syndrome is a rare neurocutaneous syndrome sometimes known as the fifth phacomatosis, inherited in autosomal dominant fashion with complete penetrance and variable expressivity. Gorlin syndrome is characterized by development of multiple basal cell carcinomas (BCCs), jaw cysts, palmar or plantar pits, calcification of falx cerebri, various developmental skeletal abnormalities such as bifid rib, hemi- or bifid vertebra and predisposition to the development of various tumors. BCNS is caused by a mutation in the PTCH1 gene localized to 9q22.3. Its estimated prevalence varies between 1/55600 and 1/256000 with an equal male to female ratio. The medulloblastoma variant seen in Gorlin syndrome patients is of the desmoplastic type, characteristically presenting during the first 3 years of life. Therefore, children with desmoplastic medulloblastoma should be carefully screened for other features of BCNS. Radiation therapy for desmoplastic medulloblastoma should be avoided in BCNS patients as it may induce development of invasive BCCs and other tumors in the skin area exposed to radiation. This syndrome is a multisystem disorder so involvement of multiple specialists with a multimodal approach to detect and treat various manifestations at early stages will reduce the long-term sequelae and severity of the condition. Life expectancy is not significantly altered but morbidity from complications and cosmetic scarring can be substantial. © 2015 Elsevier B.V. All rights reserved.

Filgrastim for the treatment of hematopoietic acute radiation syndrome.

PubMed

Farese, A M; MacVittie, T J

2015-09-01

The U.S. Food and Drug Administration (FDA) recently approved Neupogen(®) (filgrastim) for the treatment of patients with radiation-induced myelosuppression following a radiological/nuclear incident. It is the first medical countermeasure currently approved by the FDA for this indication under the criteria of the FDA "animal rule". This article summarizes the consequences of high-dose radiation exposure, a description of the hematopoietic acute radiation syndrome (H-ARS), the use of hematopoietic growth factors in radiation accident victims and current available treatments for H-ARS with an emphasis on the use of Neupogen in this scenario. Copyright 2015 Prous Science, S.A.U. or its licensors. All rights reserved.

The importance of understanding individual differences in Down syndrome

PubMed Central

Karmiloff-Smith, Annette; Al-Janabi, Tamara; D'Souza, Hana; Groet, Jurgen; Massand, Esha; Mok, Kin; Startin, Carla; Fisher, Elizabeth; Hardy, John; Nizetic, Dean; Tybulewicz, Victor; Strydom, Andre

2016-01-01

In this article, we first present a summary of the general assumptions about Down syndrome (DS) still to be found in the literature. We go on to show how new research has modified these assumptions, pointing to a wide range of individual differences at every level of description. We argue that, in the context of significant increases in DS life expectancy, a focus on individual differences in trisomy 21 at all levels—genetic, cellular, neural, cognitive, behavioral, and environmental—constitutes one of the best approaches for understanding genotype/phenotype relations in DS and for exploring risk and protective factors for Alzheimer’s disease in this high-risk population. PMID:27019699

Gorlin-goltz syndrome.

PubMed

Pandeshwar, Padma; Jayanthi, K; Mahesh, D

2012-01-01

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

Ovulation induction in women with polycystic ovary syndrome.

PubMed

Perales-Puchalt, Alfredo; Legro, Richard S

2013-08-01

Polycystic ovary syndrome (PCOS) is the most common cause of anovulatory infertility. There are multiple ways to induce ovulation in PCOS patients, which will eventually provide a successful live birth. Each of these treatments varies in aggressiveness and effectiveness. Ranging from lifestyle modifications, through insulin-sensitizing agents, selective estrogen receptor modulators, aromatase inhibitors, gonadotropins, to laparoscopic ovarian drilling and assisted reproductive techniques, each method achieves ovulation induction through different mechanisms of action. This review provides a description and specific characteristics of the different methods used for ovulation induction which can help to design a personalized approach to each PCOS patient, and a general stepwise approach to ovulation induction in these patients. Copyright © 2013 Elsevier Inc. All rights reserved.

Syndromes with supernumerary teeth.

PubMed

Lubinsky, Mark; Kantaputra, Piranit Nik

2016-10-01

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

Descriptive summary of an outbreak of porcine post-weaning multisystemic wasting syndrome (PMWS ) in New Zealand.

PubMed

Neumann, E J; Dobbinson, S S A; Welch, E B M; Morris, R S

2007-12-01

Investigations were conducted to determine the cause of an acute, multi-farm outbreak of porcine respiratory disease that included diarrhoea and subsequent loss of body condition in affected pigs. A definition for post-weaning multisystemic wasting syndrome (PMWS) including both clinical and pathological features, previously developed for the pig industry in New Zealand, was applied to the current outbreak. In addition to self-reporting by owners of affected farms, local veterinarians, disease and epidemiology consultants, and animal health officials from the Ministry of Agriculture and Forestry (MAF) were involved in conducting farm visits and submission of diagnostic specimens. Pathogens known to be endemic in the pig industry in New Zealand as well as likely exotic diseases were excluded as causative agents of the outbreak. Clinical signs including dyspnoea, diarrhoea, and rapid loss of body condition were consistent with the New Zealand case definition for PMWS. Interstitial pneumonia, pulmonary oedema, generalised lymph-node enlargement, and presence of porcine circovirus type 2 (PCV2) inclusion bodies were consistently identified in affected pigs. Classical swine fever virus (CSFv), Porcine reproductive and respiratory syndrome virus (PRRSv), and Influenza virus were ruled out, using molecular and traditional virological techniques. Spread of the disease between farms was hypothesised to be facilitated by locally migrating flocks of black-backed seagulls. The original source of the disease incursion was not identified. Based on the consistent presence of circovirus-associated lesions in lymphoid tissues in combination with generalised enlargement of lymph nodes, histiocytic interstitial pneumonia, clinical wasting, and poor response to antibiotic therapy, a diagnosis of PMWS was made. PMWS should be considered in the differential diagnoses of sudden onset of respiratory dyspnoea, diarrhoea, and rapid loss of body condition in young pigs in New Zealand pig

Features of Turner syndrome among a group of Cameroonian patients.

PubMed

Wonkam, Ambroise; Veigne, Sandra W; Abass, Ali; Ngo Um, Suzanne; Noubiap, Jean Jacques N; Mbanya, Jean-Claude; Sobngwi, Eugene

2015-06-01

To describe the features of Turner syndrome among a group of Cameroonian patients. A descriptive cross-sectional study was conducted among patients with amenorrhea and/or short stature who attended the genetic unit of Yaoundé Gynecology, Obstetrics and Pediatric Hospital (Yaoundé, Cameroon) for a specialist consultation between July 1, 2007, and December 31, 2008. Sociodemographic, clinical, and cytogenetic data were collected. Turner syndrome was confirmed among 11 of the 14 participants (seven had monosomy of the X chromosome; four had mosaicism involving a structural abnormality of the second X chromosome). The mean age at diagnosis was 18.4±2.8years. The reasons for consultation were delayed puberty (n=10) and short stature (n=1). Nine patients had a short neck, nine had a forearm carrying-angle deformity, eight had a low hairline, and two had a webbed neck. Abdominal ultrasonography identified a horseshoe kidney in two patients and a rudimentary uterus in nine patients. None of the patients displayed cardiac abnormalities. Hypergonadotropic hypogonadism was reported among five patients. Eight patients did not receive hormonal treatment owing to advanced bone age or economic reasons. Late diagnosis and variable phenotypic expression were key features of Cameroonian patients with Turner syndrome. Copyright © 2015 International Federation of Gynecology and Obstetrics. Published by Elsevier Ireland Ltd. All rights reserved.

Velocardiofacial Syndrome

ERIC Educational Resources Information Center

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

2009-01-01

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

Experience with Guillain-Barré syndrome in a neurological Intensive Care Unit.

PubMed

González, P; García, X; Guerra, A; Arango, J C; Delgado, H; Uribe, C S; Sará, J; López de Mesa, J C; Hernández, O

2016-01-01

Guillain-Barré syndrome, an acute polyradiculoneuropathy that presents with weakness and areflexia, is the most common cause of acute flaccid paralysis. In certain patients, respiratory failure is secondary to this disorder, eventually causing patients to require mechanical ventilation and experience additional complications due to diminished respiratory support and related mobility limitations. Prognoses for most of these cases are positive; treatment consists of basic support combined with plasmapheresis or administration of immunoglobulins. This study sought to describe the socio-demographic, clinical, laboratory and neurophysiological characteristics of patients with Guillain-Barré syndrome who were hospitalised in the Intensive Care Unit of the Neurological Institute of Colombia between 2006 and 2012. This study presents a case series. We surveyed 25 patients (32% female and 68% male) with Guillain-Barré syndrome and an average age of 54 years. Sixty per cent of these patients were admitted between days 3 and 7 after symptom onset; 64% had a history of respiratory infection and 20% had a history of intestinal infection. In addition, 84% of the patients presented with albuminocytological dissociation. We observed the following clinical subtypes of Guillain-Barré syndrome: inflammatory demyelinating polyneuropathy in 32%, acute motor-sensory axonal neuropathy in 28%, acute motor axonal neuropathy in 28%, and Miller Fisher syndrome in 12%. In this descriptive study of a group of critical care patients with GBS, results depended on patients' clinical severity at time of admission. Our findings are similar to results published in the international literature. Copyright © 2014 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.

Fluency Disorders in Genetic Syndromes

ERIC Educational Resources Information Center

Van Borsel, John; Tetnowski, John A.

2007-01-01

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

[Human growth hormone and Turner syndrome].

PubMed

Sánchez Marco, Silvia Beatriz; de Arriba Muñoz, Antonio; Ferrer Lozano, Marta; Labarta Aizpún, José Ignacio; Garagorri Otero, Jesús María

2017-02-01

The evaluation of clinical and analytical parameters as predictors of the final growth response in Turner syndrome patients treated with growth hormone. A retrospective study was performed on 25 girls with Turner syndrome (17 treated with growth hormone), followed-up until adult height. Auxological, analytical, genetic and pharmacological parameters were collected. A descriptive and analytical study was conducted to evaluate short (12 months) and long term response to treatment with growth hormone. A favourable treatment response was shown during the first year of treatment in terms of height velocity gain in 66.6% of cases (height-gain velocity >3cm/year). A favourable long-term treatment response was also observed in terms of adult height, which increased by 42.82±21.23cm (1.25±0.76 SDS), with an adult height gain of 9.59±5.39cm (1.68±1.51 SDS). Predictors of good response to growth hormone treatment are: A) initial growth hormone dose, B) time on growth hormone treatment until starting oestrogen therapy, C) increased IGF1 and IGFBP-3 levels in the first year of treatment, and D) height gain velocity in the first year of treatment. Copyright © 2015 Asociación Española de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

Rituximab use in the catastrophic antiphospholipid syndrome: descriptive analysis of the CAPS registry patients receiving rituximab.

PubMed

Berman, Horacio; Rodríguez-Pintó, Ignasi; Cervera, Ricard; Morel, Nathalie; Costedoat-Chalumeau, Nathalie; Erkan, Doruk; Shoenfeld, Yehuda; Espinosa, Gerard

2013-09-01

The catastrophic variant of the antiphospholipid syndrome (APS) is characterized by thrombosis in multiple organs developing over a short period of time. First-line treatment for the catastrophic APS is the combination of anticoagulation plus corticosteroids plus plasma exchange and/or intravenous immunoglobulin. Despite this regimen, the mortality remains high and new treatment options are needed. By a systematic review of the Catastrophic APS Registry (CAPS Registry), we identified 20 patients treated with rituximab. The purpose of this study is to describe the clinical manifestations, laboratory features, and outcomes of rituximab-treated CAPS patients. In addition, the rationale for using rituximab in catastrophic APS is discussed. Copyright © 2013 Elsevier B.V. All rights reserved.

Aromatherapy massage versus reflexology on female elderly with acute coronary syndrome.

PubMed

Bahrami, Tahereh; Rejeh, Nahid; Heravi-Karimooi, Majideh; Vaismoradi, Mojtaba; Tadrisi, Seyed Davood; Sieloff, Christina L

2017-06-02

Fatigue and abnormalities in cardiovascular parameters are recognized as major problems for patients with acute coronary syndrome. Non-pharmacological nursing interventions are useful for controlling this fatigue and reducing patients' suffering during hospitalization. The present study compared the effects of aromatherapy massage and reflexology on fatigue and cardiovascular parameters in older female patients with acute coronary syndrome. This study was a randomized clinical trial. The study was conducted with 135 older female patients with acute coronary syndrome who were hospitalized in a cardiac care unit in 2014. They were invited to participate in the study and then were randomly divided into three groups: 'aromatherapy massage', 'reflexology' and 'control'. The fatigue severity and cardiovascular parameters were assessed using the Rhoten fatigue scale and a checklist. Measurements in the groups were performed before and immediately after the intervention. Data analysis was performed using descriptive and analytical statistics via the SPSS software. Aromatherapy massage significantly decreased fatigue, systolic blood pressure, mean arterial pressure and O 2 saturation more than the reflexology intervention. However, reflexology reduced patients' heart rates more than an aromatherapy massage (P < 0·05). Moreover, no significant changes were observed in patients' diastolic blood pressures when compared to the control group (P = 0·37). Implementation of both aromatherapy massage and reflexology has positive effects on the fatigue and cardiovascular parameters of patients with acute coronary syndrome. However, aromatherapy massage can be more beneficial to use as a supportive approach in coronary diseases. The need for reducing fatigue in acute coronary syndrome (ACS) patients in a cardiac care unit is evident. The implementation of aromatherapy massage and reflexology had positive effects on patients' fatigue as related to both physical and mental

[Psychosocial Factors and Burnout Syndrome Found in Workers in the Dough Processing Industry, Tepic, Mexico].

PubMed

Beltrán, Carolina Aranda; Gónzalez, José Luis López; Barraza Salas, José Horacio

2013-06-01

The workers in the dough processing industry are a population exposed to psychosocial risk factors due to the conditions in the workplace; therefore, they are likely to suffer from one of the consequences of chronic stress to which a worker is exposed daily: burnout syndrome. The aim of this study was to analyze the relationship between psychosocial factors and the burnout syndrome in workers in the dough processing industry in the city of Tepic, Mexico. A cross-sectional and descriptive study was conducted in five companies from the dough processing industry. The total population consisted of 122 workers who were administered the scale of Psychosocial Factors Identification of the Mexican Social Security Institute and the Maslach Burnout Inventory scale, in order to gather information. The presence of adverse psychosocial factors was reported in 18.3%, and 79.8% with the syndrome. There were several variables that behaved as risk factors, specifically, the system of working with the emotional exhaustion. Copyright © 2013 Asociación Colombiana de Psiquiatría. Publicado por Elsevier España. All rights reserved.

[Münchhausen syndrome].

PubMed

Robert, J C; Cremniter, D; Lejonc, J L

1991-04-20

Münchhausen's syndrome is characterized by fictitious illnesses associated with hospital peregrination, pseudologia fantastica with a mythomanic discourse that includes strongly structured medical elements, passivity and dependance at examinations, and aggressiveness. The whole picture is so typical that the syndrome can easily be recognized. Cases of Münchhausen's syndrome by proxy (Meadow's syndrome) have been reported during the last few years; the condition concerns children suffering from diseases which are entirely due to their parents and can be compared with the battered child syndrome. In terms of nosology, among pathomimias Münchhausen's syndrome figures as a borderline state. Since it is impossible to establish positive relations with these patients, treatment fails in almost every case.

[A case report on Waardenburg syndrome with cleft lip].

PubMed

Traoré, H; Traoré, D; Ouane, O; Simpara, B; Ongoiba, N

2011-01-01

The syndrome of Waardenburg is a congenital plurimal formatif unit rare described and individualized for the first time by Waardenburg in 1951. It associates in its form most typical dystopie canthale intern, a widening of the base of the nose, disorders of the pigmentation. We wanted brought back this case because of its scarcity. It was about a 18 month old infant without particular antecedents, which was drawn up to us for correction of congenital malformation. The interrogation did not make it possible to find signs functional notable. With the examination it had a general good state. t presented a bilateral iridal hypochromy, a dystopie canthale, a canitie, a bilateral labial slit. The diagnosis of presumption was the Syndrome of Waardenburg because of the description of at least 2 major signs: dystopie canthale and disorders of the pigmentation. The complementary examinations carried out were those of the preoperative assessment which returned normal. The biological diagnosis which rests on the search for change of gene was not made for reasons of technical order and financier. The surgery is centered on the treatment of the labial slit. A chéiloplastie according to Millard was carried out. The continuations were simple. The Syndrome of Waardenburg is a rare, hereditary entity. A neurosensory deafness, musculo-skeletal anomalies, thus qu' a disease of Hirschsprung will have to be systematically required. The surgery of the slit or the télécanthus allows an social integration of the subjects reached.

The Source for Syndromes.

ERIC Educational Resources Information Center

Richard, Gail J.; Hoge, Debra Reichert

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

[New perspectives on molecular and genic therapies in Down syndrome].

PubMed

Delabar, Jean Maurice

2010-04-01

Trisomy 21 was first described as a syndrome in the middle of the nineteenth century and associated to a chromosomic anomaly one hundred years later: the most salient feature of this syndrome is a mental retardation of variable intensity. Molecular mapping and DNA sequencing have allowed identifying the gene content of chromosome 21. Molecular quantitative analyses indicated that trisomy is inducing an overexpression for a large part of the triplicated genes and deregulates also pathways involving non HSA21 genes. Together with the physiological description of murine models overexpressing orthologous genes, these data have allowed to elaborate hypotheses on the cause of cognitive impairment. From these hypotheses and using murine models it is now possible to assess the efficiency of various therapeutic strategies. This paper reviews these new perspectives starting from the strategies targeting the level of HSA21 RNAs or HSA21 proteins; then it describes methods targeting activities either of proteins involved in cell cycle pathways or of proteins controlling the synaptic plasticity. It is promising that strategies targeting specific genes or specific pathways are already giving positive results.

The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome)

PubMed Central

Phelan, K.; McDermid, H.E.

2012-01-01

The 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome, is a contiguous gene disorder resulting from deletion of the distal long arm of chromosome 22. In addition to normal growth and a constellation of minor dysmorphic features, this syndrome is characterized by neurological deficits which include global developmental delay, moderate to severe intellectual impairment, absent or severely delayed speech, and neonatal hypotonia. In addition, more than 50% of patients show autism or autistic-like behavior, and therefore it can be classified as a syndromic form of autism spectrum disorders (ASD). The differential diagnosis includes Angelman syndrome, velocardiofacial syndrome, fragile X syndrome, and FG syndrome. Over 600 cases of 22q13.3 deletion syndrome have been documented. Most are terminal deletions of ∼100 kb to >9 Mb, resulting from simple deletions, ring chromosomes, and unbalanced translocations. Almost all of these deletions include the gene SHANK3 which encodes a scaffold protein in the postsynaptic densities of excitatory synapses, connecting membrane-bound receptors to the actin cytoskeleton. Two mouse knockout models and cell culture experiments show that SHANK3 is involved in the structure and function of synapses and support the hypothesis that the majority of 22q13.3 deletion syndrome neurological defects are due to haploinsufficiency of SHANK3, although other genes in the region may also play a role in the syndrome. The molecular connection to ASD suggests that potential future treatments may involve modulation of metabotropic glutamate receptors. PMID:22670140

Autoimmune/inflammatory syndrome induced by adjuvants (Shoenfeld's syndrome) - An update.

PubMed

Watad, A; Quaresma, M; Brown, S; Cohen Tervaert, J W; Rodríguez-Pint, I; Cervera, R; Perricone, C; Shoenfeld, Y

2017-06-01

Autoimmune/inflammatory syndrome induced by adjuvants (ASIA) has been widely described in many studies conducted thus far. The syndrome incorporates five immune-mediated conditions, all associated with previous exposure to various agents such as vaccines, silicone implants and several others. The emergence of ASIA syndrome is associated with individual genetic predisposition, for instance those carrying HLA-DRB1*01 or HLA-DRB4 and results from exposure to external or endogenous factors triggering autoimmunity. Such factors have been demonstrated as able to induce autoimmunity in both animal models and humans via a variety of proposed mechanisms. In recent years, physicians have become more aware of the existence of ASIA syndrome and the relationship between adjuvants exposure and autoimmunity and more cases are being reported. Accordingly, we have created a registry that includes at present more than 300 ASIA syndrome cases that have been reported by different physicians worldwide, describing various autoimmune conditions induced by diverse adjuvants. In this review, we have summarized the updated literature on ASIA syndrome and the knowledge accumulated since 2013 in order to elucidate the association between the exposure to various adjuvant agents and its possible clinical manifestations. Furthermore, we especially referred to the relationship between ASIA syndrome and systemic lupus erythematosus (SLE) and antiphospholipid syndrome (APS).

Neuroligins Provide Molecular Links Between Syndromic and Non-Syndromic Autism

PubMed Central

Singh, Sandeep K.; Eroglu, Cagla

2014-01-01

Autism is a common and heritable neuropsychiatric disorder that can be categorized into two types: syndromic and non-syndromic, the former of which are associated with other neurological disorders or syndromes. Molecular and functional links between syndromic and non-syndromic autism genes were lacking until studies aimed at understanding role of trans-synaptic adhesion molecule neuroligin, which is associated with non-syndromic autism, provided important connections. Here, we integrate data from these studies into a model of how neuroligin functions to control synaptic connectivity in the central nervous system and how neuroligin dysfunction may participate in the pathophysiology of autism. Understanding the complex functional interactions between neuroligins and other autism-associated proteins at the synapse is crucial to understand the pathology of autism. This understanding might bring us closer to development of therapeutic approaches for autism. PMID:23838185

Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2).

PubMed

Gropman, Andrea L; Duncan, Wallace C; Smith, Ann C M

2006-05-01

The Smith-Magenis syndrome is a rare, complex multisystemic disorder featuring, mental retardation and multiple congenital anomalies caused by a heterozygous interstitial deletion of chromosome 17p11.2. The phenotype of Smith-Magenis syndrome is characterized by a distinct pattern of features including infantile hypotonia, generalized complacency and lethargy in infancy, minor skeletal (brachycephaly, brachydactyly) and craniofacial features, ocular abnormalities, middle ear and laryngeal abnormalities including hoarse voice, as well as marked early expressive speech and language delays, psychomotor and growth retardation, and a 24-hour sleep disturbance. A striking neurobehavioral pattern of stereotypies, hyperactivity, polyembolokoilamania, onychotillomania, maladaptive and self-injurious and aggressive behavior is observed with increasing age. The diagnosis of Smith-Magenis syndrome is based upon the clinical recognition of a constellation of physical, developmental, and behavioral features in combination with a sleep disorder characterized by inverted circadian rhythm of melatonin secretion. Many of the features of Smith-Magenis syndrome are subtle in infancy and early childhood, and become more recognizable with advancing age. Infants are described as looking "cherubic" with a Down syndrome-like appearance, whereas with age the facial appearance is that of relative prognathism. Early diagnosis requires awareness of the often subtle clinical and neurobehavioral phenotype of the infant period. Speech delay with or without hearing loss is common. Most children are diagnosed in mid-childhood when the features of the disorder are most recognizable and striking. While improvements in cytogenetic analysis help to bring cases to clinical recognition at an earlier age, this review seeks to increase clinical awareness about Smith-Magenis syndrome by presenting the salient features observed at different ages including descriptions of the neurologic and behavioral

[Prevalence of metabolic syndrome components in patients with acute coronary syndromes].

PubMed

Zaliūnas, Remigijus; Slapikas, Rimvydas; Luksiene, Dalia; Slapikiene, Birute; Statkeviciene, Audrone; Milvidaite, Irena; Gustiene, Olivija

2008-01-01

Many studies report that the components of the metabolic syndrome--arterial hypertension, abdominal obesity, diabetes mellitus, and atherogenic dyslipidemia--are associated with an increased risk of cardiovascular disease. We investigated the prevalence of different components of the metabolic syndrome and frequency of their combinations and acute hyperglycemia among patients with acute coronary syndromes. The study population consisted of 2756 patients (1670 men and 1086 women with a mean age of 63.3+/-11.3 years) with acute coronary syndromes: Q-wave myocardial infarction was present in 41.8% of patients; non-Q-wave MI, in 30.7%; and unstable angina pectoris, in 27.5%. The metabolic syndrome was found in 59.6% of the patients according to modified NCEP III guidelines. One component of the metabolic syndrome was found in 13.5% of patients; two, in 23.0%; and none, in 3.9%. Less than one-third (29.2%) of the patients had three components of the metabolic syndrome, and 30.4% of the patients had four or five components. Arterial hypertension and abdominal obesity were the most common components of the metabolic syndrome (82.2% and 65.8%, respectively). Nearly half of the patients had hypertriglyceridemia and decreased level of high-density lipoprotein cholesterol (55.0% and 51.1%, respectively), and 23.9% of patients had diabetes mellitus. Acute hyperglycemia (> or =6.1 mmol/L) without known diabetes mellitus was found in 38.1% of cases. The combination of arterial hypertension and abdominal obesity was reported in 57.8% of patients in the case of combinations of two-five metabolic syndrome components. More than half of patients with acute coronary syndromes had three or more components of the metabolic syndrome, and arterial hypertension and abdominal obesity were the most prevalent components of the metabolic syndrome.

NLRP3 A439V Mutation in a Large Family with Cryopyrin-associated Periodic Syndrome: Description of Ophthalmologic Symptoms in Correlation with Other Organ Symptoms.

PubMed

Sobolewska, Bianka; Angermair, Eva; Deuter, Christoph; Doycheva, Deshka; Kuemmerle-Deschner, Jasmin; Zierhut, Manfred

2016-06-01

Cryopyrin-associated periodic syndrome (CAPS) is a group of inherited autoinflammatory disorders caused by mutations in the NLRP3 gene resulting in the overproduction of interleukin 1β. NLRP3 mutations cause a broad clinical phenotype of CAPS. The aims of the study were to evaluate clinical, laboratory, and genetic features of a 5-generation family with CAPS focusing in detail on ocular symptoms. In a retrospective observational cohort study, consecutive family members were screened for the presence of the NLRP3 mutation. Patients underwent standardized clinical, laboratory, and ophthalmological assessments. The genotype-specific risk of ophthalmological findings and other organ symptoms was determined. Twenty-nine patients were clinically affected. The A439V mutation encoded by exon 3 of the NLRP3 gene was found in 15 of 37 family members (41%). The most common clinical features were musculoskeletal symptoms, headaches, and ophthalmological symptoms. The mutation-positive patients were characterized by more frequent skin rashes, ocular symptoms, arthralgia, arthritis, and severe Muckle-Wells syndrome (MWS) Disease Activity Score. Rosacea was diagnosed in 8 patients. The NLRP3 mutation A439V is associated with a heterogeneous clinical spectrum of familial cold autoinflammatory syndrome/MWS-overlap syndrome. Skin rash and eye diseases, such as conjunctivitis and uveitis, were positively correlated with this mutation.

[Kounis syndrome: a paradoxal non-ST elevation myocardial infarction case after triamcinolone treatment for dermatitis].

PubMed

Yılmaz, Mücahid; Korkmaz, Hasan

2018-04-01

Kounis syndrome is defined as the clinical development of acute coronary syndrome caused by the activation of inflammatory cells due to an allergy, hypersensitivity, anaphylaxis, or anaphylactic reaction. Corticosteroids that are used in the treatment of many inflammatory conditions may paradoxically cause allergic reactions and even anaphylaxis. This article is a description of the case of a 52-yearold female patient who had a non-ST elevation myocardial infarction after the administration of triamcinolone that was relieved with antihistaminic treatment. The patient had been diagnosed with dermatitis at another medical center and injected with 40 mg/mL (intramuscular [IM]) of triamcinolone acetonide and developed chest pain 15 minutes after the first dose. Despite a normal physical examination and echocardiogram, laboratory tests revealed troponin positivity and an inferolateral ST depression was present on an electrocardiogram (ECG). The ECG findings and clinical symptoms resolved completely after conservative anti-ischemic treatment and antihistaminic therapy (pheniramine maleate 45.5 mg/2 mL, Avil ampoule, IV; Sanofi-Aventis, Paris, France) and coronary angiography evaluation of the arteries was normal. The heart, and in particular the coronary arteries, are among the organs that are most damaged during hypersensitivity reactions and anaphylaxis. Although Kounis syndrome is not a rare condition, few cases have been reported in clinical practice. The failure to recognize Kounis syndrome due to inadequately defined cases may lead to unwanted medical results. Kounis syndrome should be kept in mind in order to make a rapid and accurate diagnosis.

Are Numerical Impairments Syndrome Specific? Evidence from Williams Syndrome and Down's Syndrome

ERIC Educational Resources Information Center

Paterson, Sarah J.; Girelli, Luisa; Butterworth, Brian; Karmiloff-Smith, Annette

2006-01-01

Background: Several theorists maintain that exact number abilities rely on language-relevant processes whereas approximate number calls on visuo-spatial skills. We chose two genetic disorders, Williams syndrome and Down's syndrome, which differ in their relative abilities in verbal versus spatial skills, to examine this hypothesis. Five…

Reye syndrome - resources

MedlinePlus

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

Toxic shock syndrome

MedlinePlus

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

Eosinophilic leukocytoclastic vasculitis - a spectrum ranging from Wells' syndrome to Churg-Strauss syndrome?

PubMed

Ratzinger, Gudrun; Zankl, Julia; Eisendle, Klaus; Zelger, Bernhard

2014-01-01

Wells' syndrome is defined as an inflammatory disorder with the histopathological presence of eosinophilic infiltrates and flame figures in the absence of vasculitis. Eosinophilic leukocytoclastic vasculitis shows eosinophilic infiltrates in combination with vasculitic changes. And Churg Strauss Syndrome comprises all three characteristics - eosinophilic infiltrates, vasculitis and flame figures. To determine whether these three diseases are distinct entities or different manifestations of a similar clinicopathologic process. Histopathological samples and clinical courses of 17 patients with eosinophilic infiltrates, flame figures and clinical features of Wells' syndrome were re-evaluated. Histopathologically, we focused on the presence or absence of vasculitic features. Clinically, we included only patients who were diagnosed with Wells' syndrome at least once in the course of their disease. 4 patients were finally diagnosed with Wells' syndrome, 5 with eosinophilic leukocytoclastic vasculitis and 6 with Churg Strauss syndrome. Further, we had one case of an overlap between Wells' syndrome and eosinophilic vasculitis and one case of Wegener granulomatosis. Vasculitic features were found in the samples of all patients. Histologically, we find vasculitic features in typical presentations of Wells' syndrome. Clinically, we find typical features of Wells' syndrome in patients finally diagnosed with eosinophilic leukocytoclastic vasculitis or Churg Strauss syndrome. Furthermore, we have observed and formerly reported 3 patients with progression from Wells' syndrome to Churg Strauss syndrome. Thus, we assume that eosinophilic leukocytoclastic vasculitis might form a bridge between Wells' syndrome and Churg Strauss syndrome.

Cold blast furnace syndrome: a new source of toxic inhalation by nitrogen oxides.

PubMed

Tague, I; Llewellin, P; Burton, K; Buchan, R; Yates, D H

2004-05-01

To describe a new toxic inhalation syndrome in blast furnace workers. Fourteen workers developed acute respiratory symptoms shortly after exposure to "air blast" from blast furnace tuyeres. These included chest tightness, dyspnoea, rigors, and diaphoresis. Chest radiographs showed pulmonary infiltrates, and lung function a restrictive abnormality. This report includes a description of clinical features of the affected workers and elucidation of the probable cause of the outbreak. Clinical features and occupational hygiene measurements suggested the most likely cause was inhalation of nitrogen oxides at high pressure and temperature. While the task could not be eliminated, engineering controls were implemented to control the hazard. No further cases have occurred. "Cold blast furnace syndrome" represents a previously undescribed hazard of blast furnace work, probably due to inhalation of nitrogen oxides. It should be considered in the differential diagnosis of acute toxic inhalational injuries in blast furnace workers.

Does neuromuscular taping influence hand kinesiology? A pilot study on Down's Syndrome.

PubMed

Rigoldi, C; Galli, M; Celletti, C; Blow, D; Camerota, F; Albertini, G

2015-01-01

This paper is a first attempt analysis of hand and upper limb proprioception coordination induced by NeuroMuscular Taping (NMT): application in a group of 5 participants with Down syndrome. The participants underwent a drawing test with motion capture system acquisition before and after NMT application. Specific and descriptive parameters were computed and analysed in order to quantify the differences. Results showed statistical differences between pre and post treatment sessions: the 5 participants with Down syndrome evidenced more reliance on proprioceptive signals in the post treatment session during the execution of the specific writing tasks. Based on the hypothesis that modifications in proprioception should alter motor pathway mapping of the motor cortex, Neuromuscular taping may play a role in the treatment of dysgraphia and improving hand coordination following CNS impairment, even though a small treatment group was chosen for this pilot study the results lead to further discussions concerning the role of different afferent signals in a pathological context.

Management of moyamoya syndrome in patients with Noonan syndrome.

PubMed

Gupta, Mihir; Choudhri, Omar A; Feroze, Abdullah H; Do, Huy M; Grant, Gerald A; Steinberg, Gary K

2016-06-01

A few isolated reports have described an association between Noonan syndrome and cerebrovascular abnormalities, including moyamoya syndrome. These reports have been limited to pediatric patients presenting with recurrent transient ischemic attacks (TIA) or headaches. Management has primarily been pharmacologic, with only one prior report of surgical revascularization to our knowledge. We report four cases of Noonan syndrome patients presenting with headaches and/or sensorimotor strokes in childhood that caused unilateral sensorimotor impairment. Cerebral angiography and MRI revealed bilateral moyamoya syndrome. All patients underwent successful bilateral extracranial-to-intracranial revascularization. The first patient was a 10-year-old girl who presented following a hemorrhagic stroke and recovered well after indirect bypass. The second patient was an adult with a history of childhood stroke whose symptoms progressed in adulthood. She underwent a direct bypass and improved, but continued to experience TIA at her 4 year follow-up. The third patient was a 7-year-old girl with headaches and a new onset TIA who failed pharmacological therapy and subsequently underwent bilateral indirect bypass. The fourth patient was a 24-year-old woman with worsening headaches and an occluded left middle cerebral artery from unilateral moyamoya syndrome. A left sided direct bypass was completed given delayed MRI perfusion with poor augmentation. To our knowledge these are the first reported surgical cases of combined Noonan and moyamoya syndrome. These cases highlight the need to recognize moyamoya syndrome in patients with Noonan syndrome. Early surgical revascularization should be pursued in order to prevent symptom progression. Copyright © 2015 Elsevier Ltd. All rights reserved.

The hypertension of Cushing's syndrome: controversies in the pathophysiology and focus on cardiovascular complications.

PubMed

Isidori, Andrea M; Graziadio, Chiara; Paragliola, Rosa Maria; Cozzolino, Alessia; Ambrogio, Alberto G; Colao, Annamaria; Corsello, Salvatore M; Pivonello, Rosario

2015-01-01

Cushing's syndrome is associated with increased mortality, mainly due to cardiovascular complications, which are sustained by the common development of systemic arterial hypertension and metabolic syndrome, which partially persist after the disease remission. Cardiovascular diseases and hypertension associated with endogenous hypercortisolism reveal underexplored peculiarities. The use of exogenous corticosteroids also impacts on hypertension and cardiovascular system, especially after prolonged treatment. The mechanisms involved in the development of hypertension differ, whether glucocorticoid excess is acute or chronic, and the source endogenous or exogenous, introducing inconsistencies among published studies. The pleiotropic effects of glucocorticoids and the overlap of the several regulatory mechanisms controlling blood pressure suggest that a rigorous comparison of in-vivo and in-vitro studies is necessary to draw reliable conclusions. This review, developed during the first 'Altogether to Beat Cushing's syndrome' workshop held in Capri in 2012, evaluates the most important peculiarities of hypertension associated with CS, with a particular focus on its pathophysiology. A critical appraisal of most significant animal and human studies is compared with a systematic review of the few available clinical trials. A special attention is dedicated to the description of the clinical features and cardiovascular damage secondary to glucocorticoid excess. On the basis of the consensus reached during the workshop, a pathophysiology-oriented therapeutic algorithm has been developed and it could serve as a first attempt to rationalize the treatment of hypertension in Cushing's syndrome.

Metabolic syndrome in the Military Health System based on electronic health data, 2009-2012.

PubMed

Herzog, Catherine M; Chao, Susan Y; Eilerman, Patricia A; Luce, Beverly K; Carnahan, David H

2015-01-01

Metabolic syndrome prevalence in the United States rose from 27% to 34.2% between 1999-2000 and 1999-2006. However, prevalence has not been determined in the Military Health System. This retrospective descriptive study included enrolled Military Health System adults during fiscal years 2009-2012. We explored three populations (nonactive duty, active duty, and Air Force active duty) and their metabolic syndrome components (body mass index or waist circumference, blood glucose test, triglyceride, high density lipoprotein, and blood pressure). The active duty sample (who had all five components measured) was representative of its population, but the nonactive duty sample was not. Therefore, we reported component-wise prevalence for both nonactive and active duty populations, but only reported prevalence of metabolic syndrome for active duty. A decreasing trend, greater in men, was seen. Crude prevalence in 2012 was higher among men and highest among males and females aged 45-64. Only Air Force active duty data contained waist circumference measurements, enabling comparison to the United States. This subgroup prevalence was significantly lower than the United States prevalence in 2010 for both genders in every age group. Although decreasing metabolic syndrome prevalence is promising, prevalence is still high and future research should explore policies to help lower the prevalence. Reprint & Copyright © 2015 Association of Military Surgeons of the U.S.

Polycystic ovary syndrome and metabolic syndrome: the worrisome twosome?

PubMed

Shah, D; Rasool, S

2016-01-01

By virtue of insulin resistance being the common etiology for polycystic ovary syndrome (PCOS) and metabolic syndrome, the cardiometabolic risks of these two syndromes are shared. The usual concerns of a PCOS patient are cosmetic or reproductive. However, there are more serious concerns past the reproductive age. Early treatment of insulin resistance, hypertension and hyperlipidemia reduces the long-term risk. This review highlights the unhealthy association of metabolic syndrome with PCOS and emphasizes the importance of early diagnosis, patient education and long-term follow-up beyond the reproductive age into menopause to prevent the long-term serious co-morbidities.

Fat embolism syndrome.

PubMed

Stein, Paul D; Yaekoub, Abdo Y; Matta, Fadi; Kleerekoper, Michael

2008-12-01

To assess the incidence and risk factors for fat embolism syndrome. Data from the National Hospital Discharge Survey (NHDS) were analyzed using International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9-CM) codes. From 1979 through 2005 among 928,324,000 patients discharged from short-stay hospitals in the United States, 41,000 (0.004%) had fat embolism syndrome. Among 21,538,000 patients with an isolated fracture of the femur (any site), tibia, fibula, pelvis, ribs, humerus, radius, or ulna, 25,000 (0.12%) developed fat embolism syndrome. Patients with multiple fractures of the femur (excluding neck) more often had fat embolism syndrome than those with isolated fractures (1.29% versus 0.54%). The incidence of fat embolism syndrome was lower with isolated fractures of the tibia or fibula (0.30%) and even lower with isolated fractures of the neck of the femur (0.06%). The incidence of fat embolism was too low to calculate with isolated fractures of the pelvis, ribs, humerus, radius, or ulna. Nonorthopedic conditions rarely, if ever, were accompanied by fat embolism syndrome. The fat embolism syndrome was more frequent in men (relative risk 5.71). Children, aged 0 to 9 years rarely had fat embolism syndrome. The fat embolism syndrome most commonly affected patients aged 10 to 39 years. The incidence of the fat embolism syndrome depends on the bone involved, whether fractures are isolated or multiple, the age of the patient and the gender. It rarely occurs as a result of medical conditions.

Recurrent Fever Syndromes in Patients After Recovery From Kawasaki Syndrome

PubMed Central

Tremoulet, Adriana H.; Burns, Jane C.; Bastian, John F.; Hoffman, Hal M.

2011-01-01

The recurrence of fever in a child with a history of Kawasaki syndrome (KS) poses a dilemma for clinicians who must consider the possibility of recurrent KS. In this report we present the cases of 4 patients who presented with classical symptoms of KS, were successfully treated with intravenous immunoglobulin, and later experienced a reappearance of inflammatory symptoms in a pattern consistent with a recurrent fever syndrome. The association of these syndromes within the same patient suggests that some patients may have a genetic propensity toward altered immune responses and autoinflammatory syndromes. We propose that these 2 syndromes exist within a family of febrile disorders related to innate immune dysregulation. PMID:21220401

Hantavirus pulmonary syndrome.

PubMed

Simpson, Steven Q; Spikes, Leslie; Patel, Saurin; Faruqi, Ibrahim

2010-03-01

Hantavirus pulmonary syndrome, also known as hantavirus cardiopulmonary syndrome, is a recently described infectious syndrome found throughout the Americas. Although infection is sporadic and uncommon compared with other atypical pneumonia syndromes, its high mortality rate warrants the maintenance of a high index of suspicion in rural settings. Because no specific therapies are available for the disease, prevention and early recognition play an important role in reducing mortality from the disease. This article reviews the nature of the viruses that cause hantavirus pulmonary syndrome, the epidemiology and ecology of disease transmission, and disease recognition, treatment, and prevention. Copyright 2010 Elsevier Inc. All rights reserved.

Fat embolism syndrome

PubMed Central

George, Jacob; George, Reeba; Dixit, R.; Gupta, R. C.; Gupta, N.

2013-01-01

Fat embolism syndrome is an often overlooked cause of breathlessness in trauma wards. Presenting in a wide range of clinical signs of varying severity, fat embolism is usually diagnosed by a physician who keeps a high degree of suspicion. The clinical background, chronology of symptoms and corroborative laboratory findings are instrumental in a diagnosis of fat embolism syndrome. There are a few diagnostic criteria which are helpful in making a diagnosis of fat embolism syndrome. Management is mainly prevention of fat embolism syndrome, and organ supportive care. Except in fulminant fat embolism syndrome, the prognosis is usually good. PMID:23661916

What Is Antiphospholipid Antibody Syndrome?

MedlinePlus

... or rheumatic (ru-MAT-ik) disorders, such as lupus . ("Rheumatic" refers to disorders that affect the joints, ... aCL syndrome Antiphospholipid syndrome aPL syndrome Hughes syndrome Lupus anticoagulant syndrome Causes Antiphospholipid antibody syndrome (APS) occurs ...

Proteus syndrome*

PubMed Central

Rocha, Ritha de Cássia Capelato; Estrella, Mariani Paulino Soriano; do Amaral, Danielle Mechereffe; Barbosa, Angela Marques; de Abreu, Marilda Aparecida Milanez Morgado

2017-01-01

Proteus syndrome is a rare syndrome characterized by disproportionate overgrowth of limbs, multiple hamartomas, and vascular malformations. The cerebriform connective tissue nevi, also called cerebriform plantar hyperplasia, are present in most patients, and is the main characteristic of the syndrome. If present, even alone, they can be considered as a pathognomonic sign. This article reports a classic case of Proteus syndrome in a 2-year-old male patient who began to show a discrete asymmetry of the right hemibody in relation to the left one after birth, which increased over the months. He also showed cerebriform plantar hyperplasia and Port-wine stains, among other alterations. PMID:29166516

[ABDOMINAL BIOELECTRICAL IMPEDANCE ANALYSIS AND ANTHROPOMETRY FOR PREDICTING METABOLIC SYNDROME IN MIDDLE AGED MEN].

PubMed

Fernández-Vázquez, Rosalía; Millán Romero, Ángel; Barbancho, Miguel Ángel; Alvero-Cruz, José Ramón

2015-09-01

central obesity has a higher risk of metabolic syndrome. The present work aimed to study the relationship of trunk fat and the visceral fat index, and other anthropometric indices in relation to the metabolic syndrome in middle aged male Methods: design: transversal descriptive and correlational study. 75 male, volunteers who have access to a medical assessment, with an age range of 21 to 59 years, from different professions. Weight, height, body mass index, waist circumference, gluteal circumference, waist-to-hip ratio, waist-to-height ratio, trunk fat and visceral fat level by bioelectrical abdominal impedance analysis with Tanita AB-140 (ViScan) and biochemical markers: fasting glucose, total cholesterol, and triglycerides. Likewise, the systolic and diastolic blood pressure was measured. there are significant correlations of anthropometric measurements with trunk fat and visceral fat level and the same with biochemical variables. Receptor-operator curves (ROC curve) analysis shows that the cutoff points from which arises the metabolic syndrome are 32.7% of trunk fat and a level of visceral fat of 13 with a high sensitivity and specificity, attaining the same cut-off points for the metabolic syndrome and obesity status. trunk fat and visceral fat levels determined by bioelectrical abdominal impedance analysis, values are variables very sensitive and specific for the detection of metabolic syndrome and obesity, though not over the variables and anthropometric indices. In the condition of the overweight, trunk fat and visceral fat level are more predictive than anthropometric measures. Copyright AULA MEDICA EDICIONES 2014. Published by AULA MEDICA. All rights reserved.

Gorlin syndrome.

PubMed

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

2013-05-01

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

Fluency disorders in genetic syndromes.

PubMed

Van Borsel, John; Tetnowski, John A

2007-01-01

The characteristics of various genetic syndromes have included "stuttering" as a primary symptom associated with that syndrome. Specifically, Down syndrome, fragile X syndrome, Prader-Willi syndrome, Tourette syndrome, Neurofibromatosis type I, and Turner syndrome all list "stuttering" as a characteristic of that syndrome. An extensive review of these syndromes indicated clients diagnosed with these syndromes do show evidence of nonfluency patterns, but not all would be considered stuttering. Many of the syndromes are marked by degrees of mental retardation that probably contribute to a higher than average prevalence of stuttering, as well as a higher than average prevalence of other fluency disorders (when compared to the population at large). An in-depth analysis of the available data indicates that some of these genetic syndromes show patterns of stuttering that may be indicative of only that syndrome (or similar syndromes) that can be differentially diagnosed from developmental stuttering. Among these patterns are the word-final nonfluencies noted in Prader-Willi syndrome; the presence of stuttering in the absence of secondary behaviors noted in Prader-Willi syndrome and; the presence of palilalia, word-final and word-medial nonfluencies, and word-medial and word-final nonfluencies in Tourette syndrome. Implications for future research are discussed in light of these findings. The reader will be able to: (1) describe the various different genetic syndromes that are associated with fluency disorders; (2) describe the types of nonfluencies that are associated with the major types of genetic syndromes that have fluency disorders; (3) describe the behaviors that may assist in differentially diagnosing different types of speech characteristics associated with various genetic syndromes.

Learning about WAGR Syndrome

MedlinePlus

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

Nevoid basal cell carcinoma syndrome

MedlinePlus

NBCC syndrome; Gorlin-Goltz syndrome; Basal cell nevus syndrome; BCNS; Basal cell cancer - nevoid basal cell carcinoma syndrome ... Nevoid basal cell carcinoma nevus syndrome is a rare genetic condition. The gene linked to the syndrome is known as PTCH (" ...

Toxic Shock Syndrome

MedlinePlus

... toxic shock syndrome results from toxins produced by Staphylococcus aureus (staph) bacteria, but the condition may also be ... a skin or wound infection. Causes Most commonly, Staphylococcus aureus (staph) bacteria cause toxic shock syndrome. The syndrome ...

Classification of deaths in women with human immunodeficiency virus/acquired immunodeficiency syndrome in pregnancy and childbirth.

PubMed

Brayner, Manuella Coutinho; Alves, Sandra Valongueiro

2017-01-01

To reclassify deaths of women infected with the human immunodeficiency virus/acquired immunodeficiency syndrome in pregnancy and childbirth in the State of Pernambuco, Brazil, from 2000 to 2010. A descriptive exploratory study, developed from the following steps: translation to Portuguese of the item "HIV and aids" of the United Nations document "The WHO application of ICD-10 to deaths during pregnancy, childbirth and the puerperium: DCI MM 2012"; development of a classification algorithm of deaths of women living with the human immunodeficiency virus/acquired immunodeficiency syndrome in pregnancy and childbirth; and reclassification of deaths by a group of experts. Among the 25 reclassified deaths, 12 were due to human immunodeficiency virus/acquired immunodeficiency syndrome, and pregnancy condition was coexisting; 9 were reclassified as indirect maternal death, with O98.7 code, proposed by the World Health Organization; 2 as direct/indirect maternal death; and 2 were considered indeterminate. The reclassification showed a possible pattern of change in maternal mortality, since most of the deaths were attributed to the virus and may lead to a reduction in deaths from maternal causes. The algorithm will subsidize the use of the new classification of maternal death and human immunodeficiency virus/acquired immunodeficiency syndrome.

Novel partial duplication of EYA1 causes branchiootic syndrome in a large Brazilian family.

PubMed

Dantas, Vitor G L; Freitas, Erika L; Della-Rosa, Valter A; Lezirovitz, Karina; de Moraes, Ana Maria S M; Ramos, Silvia B; Oiticica, Jeanne; Alves, Leandro U; Pearson, Peter L; Rosenberg, Carla; Mingroni-Netto, Regina C

2015-01-01

To identify novel genetic causes of syndromic hearing loss in Brazil. To map a candidate chromosomal region through linkage studies in an extensive Brazilian family and identify novel pathogenic variants using sequencing and array-CGH. Brazilian pedigree with individuals affected by BO syndrome characterized by deafness and malformations of outer, middle and inner ear, auricular and cervical fistulae, but no renal abnormalities. Whole genome microarray-SNP scanning on samples of 11 affected individuals detected a multipoint Lod score of 2.6 in the EYA1 gene region (chromosome 8). Sequencing of EYA1 in affected patients did not reveal pathogenic mutations. However, oligonucleotide-array-CGH detected a duplication of 71.8Kb involving exons 4 to 10 of EYA1 (heterozygous state). Real-time-PCR confirmed the duplication in fourteen of fifteen affected individuals and absence in 13 unaffected individuals. The exception involved a consanguineous parentage and was assumed to involve a different genetic mechanism. Our findings implicate this EYA1 partial duplication segregating with BO phenotype in a Brazilian pedigree and is the first description of a large duplication leading to the BOR/BO syndrome.

Prevalence of premenstrual syndrome and its relationship to depressive symptoms in first-year university students

PubMed Central

Acikgoz, Ayla; Dayi, Ayfer; Binbay, Tolga

2017-01-01

Objectives: To determine the prevalence of and factors influencing premenstrual syndrome (PMS) in first-year students at a university health campus and to evaluate the relationship between depression and PMS. Methods: This cross-sectional study was conducted on a population of 618 university students from March to June 2016 at Dokuz Eylül University, Izmir, Turkey. Data were collected using the Premenstrual Syndrome Scale (PMSS), Beck Depression Inventory and Student Identification Form. The data were analyzed with Version 20.0 of the Statistical Package for the Social Science. Descriptive statistics, Pearson’s chi-square test, and Chi-square test for trend, and independent samples t test and logistic regression analysis were used. Results: The prevalence of PMS in the university students was 58.1%. Premenstrual syndrome was significantly higher in students who smoked, drink alcohol, and consumed a large amount of fatty and high-calorie foods, in students who had a bad to very bad perception of their economic situation, and those who had any chronic disease or anemia (p<0.05). Premenstrual syndrome was significantly higher in students who had a risk of depression (p<0.01). A statistically significant relationship was determined between the risk of depression and PMSS total score and all PMSS subscale scores except for appetite changes (p<0.01). Conclusion: Premenstrual syndrome was found in more than half of the students who participated in the study. Premenstrual syndrome was higher in students who had a chronic disease and/or an unhealthy lifestyle. There was a statistically significant relationship between PMS and risk of depression. Students who have PMS symptoms should be evaluated for the risk of depression. PMID:29114701

Turner Syndrome: Other FAQs

MedlinePlus

... Other FAQs Share Facebook Twitter Pinterest Email Print Turner Syndrome: Other FAQs Basic information for topics, such as " ... been diagnosed with Turner syndrome. Now what? Is Turner syndrome inherited? Turner syndrome is usually not inherited, but ...

Bardet-Biedl syndrome and Usher syndrome.

PubMed

Koenig, Rainer

2003-01-01

Bardet-Biedl syndrome (BBS) and Usher syndrome (USH) are the most prevalent syndromic forms of retinitis pigmentosa (RP), together they make up almost a quarter of the patients with RP. BBS is defined by the association of retinopathy, obesity, hypogonadism, renal dysfunction, postaxial polydactyly and mental retardation. This clinically complex syndrome is genetically heterogeneous with linkage to more than 6 loci, and 4 genes have been cloned so far. Recent molecular data present evidence that, in some instances, the clinical manifestation of BBS requires recessive mutations in 1 of the 6 BBS loci plus one or two additional mutations in a second BBS locus (tri- or tetra-allelic inheritance). USH is characterized by the combination of congenital or early-onset sensorineural deafness, RP, and variable degrees of vestibular dysfunction. Each of the three clinical types is genetically heterogeneous: 7 loci have been mapped for type 1, three loci for type 2, and two loci for type 3. Currently, 6 USH genes (MYO7A, USH1C, CDH23, PCDH15, USH2A, USH3) have been identified. Pathogenetically, mutations of the USH1 genes seem to result in defects of auditory and retinal sensory cells, the USH 2 phenotype is caused by defects of extracellular matrix or cell surface receptor proteins, and USH3 may be due to synaptic disturbances. The considerable contribution of syndromic forms of RP requires interdisciplinary approaches to the clinical and diagnostic management of RP patients.

Evolution of Wernicke-Korsakoff syndrome in self-neglecting alcoholics: preliminary results of relation with Wernicke-delirium and diabetes mellitus.

PubMed

Wijnia, Jan W; van de Wetering, Ben J M; Zwart, Elles; Nieuwenhuis, K Gerrit A; Goossensen, M Anne

2012-01-01

We present a descriptive, retrospective study of initial symptoms, comorbidity, and alcohol withdrawal in 73 alcoholic patients with subsequent Korsakoff syndrome. In 25/73 (35%) of the patients the classic triad of Wernicke's encephalopathy with ocular symptoms, ataxia and confusion, was found. In at least 6/35 (17%) of the initial deliria (95% confidence interval: 10-25%) we observed no other underlying causes, thus excluding other somatic causes, medication, (recent) alcohol withdrawal, or intoxication. We suggest that these deliria may have been representing Wernicke's encephalopathy. A high frequency (15%) of diabetics may reflect a contributing factor of diabetes mellitus in the evolution of the Wernicke-Korsakoff syndrome. Copyright © American Academy of Addiction Psychiatry.

Clinicopathological Analysis of Glomerular Disease of Adult Onset Nephrotic Syndrome in an Indian Cohort- A Retrospective Study

PubMed Central

Suryawanshi, Mayur; Karnik, Swapnil

2017-01-01

Introduction Primary glomerular disease presenting with adult onset nephrotic syndrome are a major cause of chronic renal failure worldwide. The spectrum of renal disease presenting with nephrotic syndrome has undergone a gradual change globally over the course of time. However, there still exist regional differences in the incidence of primary glomerular diseases causing adult onset nephrotic syndrome. Aim To observe the spectrum of renal diseases presenting with adult onset nephrotic syndrome with comparative analysis of changing trends over the last five decades with regards to Western and Indian literature. Materials and Methods Subjects included patients with age of 18-80 years presenting with nephrotic syndrome. Renal biopsies with immunofluoroscence studies were performed in all patients. Baseline clinical parameters of serum urea, creatinine, albumin, globulin, cholesterol, 24 hour urine protein and urine microscopy were recorded. Descriptive statistics was used and results were expressed as frequencies, percentages, and mean±standard deviation. Results A total of 227 patients (72% males) were included for the study. Primary glomerular diseases formed 74.01% of total cases and majority of patients included males in the 4th decade. Minimal Change Disease (MCD) (15.8%) including its variants was the most common primary glomerular disease for adult onset of nephrotic syndrome followed by Mesangial proliferative Glomerulonephritis (MSGN) (13.2%). Membranous nephropathy and Type I Membranoproliferative Glomerulonephritis (MPGN) individually accounted for 12.3% of patients. Focal and Segmental Glomerulosclerosis (FSGS) accounted for only 11% of patients. Although, increased incidence of FSGS has been observed worldwide, there exist important regional differences in primary glomerular diseases in Indian population. MCD remains a major glomerular disease for adult onset nephrotic syndrome in different parts of India. Conclusion Our study over three years

[Descriptive and comparative study of cardiovascular risk factors and physical activity in patients with acute coronary syndrome].

PubMed

Vazquez-Arce, Maria Isabel; Marques-Sule, Elena

2017-08-22

To analyse several cardiovascular risk factors by means of the physical activity performed by patients with acute coronary syndrome (ACS). Cross-sectional study. Cardiovascular prevention service (Health Department, Valencia, Spain). The study included 401 individuals with acute coronary syndrome and discharged from hospital 2-3months before the assessment. The inclusion criteria included age between 30 and 80years-old, no contraindication for physical activity, and no previous participation in cardiac rehabilitation programmes. Metabolic equivalent MET (Kcal/Kg) was calculated, based on the type of activity, frequency, duration and intensity. Participants were divided into two groups: sedentary group (<10METs/week) and physically active group (≥10METs/week). Several variables associated with cardiovascular risk factors were assessed: body mass index (BMI), waist circumference, lipid profile, blood glucose, and arterial pressure. The mean consumption was 8.24±12.5METs/week. Prevalent factors were overweight (77.05%), and dyslipidaemia (64.3%), whilst 64.8% were sedentary. The physically active group showed differences when compared to sedentary group in triglycerides (146.53±72.8 vs. 166.94±104.8mg/dL; 95%CI; P=.031), and BMI (27.65±3.86 vs. 28.50±4.38kg/m 2 ; 95%CI; P=.045). Physical activity was performed by a limited number of patients with ACS, with a prevalence of overweight and dyslipidaemia. Being physically active improved triglycerides levels and BMI. Therefore, health promotion from Primary Care and encouraging physical activity amongst patients with ACS is crucial. Copyright © 2017 Elsevier España, S.L.U. All rights reserved.

Munchausen syndrome and Munchausen syndrome by proxy in dermatology.

PubMed

Boyd, Alan S; Ritchie, Coleman; Likhari, Sunaina

2014-08-01

Patients with Munchausen syndrome purposefully injure themselves, often with the injection of foreign materials, to gain hospital admission and the attention associated with having a difficult-to-identify condition. Munchausen syndrome by proxy occurs when a child's caregiver, typically the mother, injures the child for the same reasons. Cases of Munchausen syndrome and Munchausen syndrome by proxy with primary cutaneous involvement appear to be rarely described in the literature suggesting either that diagnosis is not made readily or that it is, in fact, an uncommon disorder. At the center of both conditions is significant psychological pathology and treatment is difficult as many patients with Munchausen syndrome when confronted with these diagnostic possibilities simply leave the hospital. Little is known about the long-term outcome or prognosis of these patients. Copyright © 2014 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.

National Down Syndrome Society

MedlinePlus

... individuals with Down syndrome. Help us fix the law and end #LawSyndrome. Law Syndrome affects 100% of people with Down syndrome. It’s a series of antiquated laws that impede the pursuit of a career or ...

Angelman Syndrome: Genetic Mechanisms and Relationship to Prader-Willi Syndrome.

ERIC Educational Resources Information Center

Smith, Arabella

1994-01-01

Research points to two distinct regions within the Prader-Willi chromosome region: one for Prader Willi syndrome and one for Angelman syndrome. Genetic mechanisms in Angelman syndrome are complex, and at present, three mechanisms are recognized: maternal deletion, paternal uniparental disomy, and a nondeleted nondisomic form. (Author/JDD)

TEMPOROMANDIBULAR PAIN DYSFUNCTION SYNDROME IN PATIENTS ATTENDING LAGOS UNIVERSITY TEACHING HOSPITAL, LAGOS, NIGERIA.

PubMed

Eweka, O M; Ogundana, O M; Agbelusi, G A

2016-01-01

Temporomandibular joint pain dysfunction syndrome (TMJPDS) is the most common temporomandibular disorder. This condition presents with symptoms of pain, restricted jaw movement and joint noise. Other symptoms include otalgia, headache, neck pain and trismus. To determine the pattern of Temporomandibular joint pain dysfunction syndrome patients managed at the Lagos University Teaching Hospital, Lagos, Nigeria. A descriptive study of patients with signs and symptoms of Temporomandibular joint pain dysfunction syndrome attending the Oral Medicine Clinic of Lagos University Teaching Hospital. Twenty-one patients with Temporomandibular joint pain dysfunction syndrome were enrolled into the study, out of which 10(48%) were females and 11(52%) were males. The age range was 23-81years with a mean of 45.2 ± 18.9 years. Majority of the patients 20(95.2%) complained of pain around the joint, in the pre-auricular region, in the muscles of mastication and the ear. While 7(35%) complained of clicking sounds, 10(47.6%) complained of pain on mouth opening and during mastication only. In all 5(23.8%) had impaired movement of the jaws, mouth opening was normal in 18(85.7%) but reduced in 3(14.3%) patients. Over half of patients 12(57%) experienced clicking sounds, there was tenderness around the temporomandibular joint in 16(76.2%) cases, pain in the ear of 7(33.3%) patients and 13(61.9%) people presented with tenderness of the muscles of mastication. Conservative management of all the cases resulted in resolution of the symptoms. Temporomandibular joint pain dysfunction syndrome has diverse clinical presentation and though distressing, it responds to prompt and effective conservative management.

Colony collapse disorder: a descriptive study.

PubMed

Vanengelsdorp, Dennis; Evans, Jay D; Saegerman, Claude; Mullin, Chris; Haubruge, Eric; Nguyen, Bach Kim; Frazier, Maryann; Frazier, Jim; Cox-Foster, Diana; Chen, Yanping; Underwood, Robyn; Tarpy, David R; Pettis, Jeffery S

2009-08-03

Over the last two winters, there have been large-scale, unexplained losses of managed honey bee (Apis mellifera L.) colonies in the United States. In the absence of a known cause, this syndrome was named Colony Collapse Disorder (CCD) because the main trait was a rapid loss of adult worker bees. We initiated a descriptive epizootiological study in order to better characterize CCD and compare risk factor exposure between populations afflicted by and not afflicted by CCD. Of 61 quantified variables (including adult bee physiology, pathogen loads, and pesticide levels), no single measure emerged as a most-likely cause of CCD. Bees in CCD colonies had higher pathogen loads and were co-infected with a greater number of pathogens than control populations, suggesting either an increased exposure to pathogens or a reduced resistance of bees toward pathogens. Levels of the synthetic acaricide coumaphos (used by beekeepers to control the parasitic mite Varroa destructor) were higher in control colonies than CCD-affected colonies. This is the first comprehensive survey of CCD-affected bee populations that suggests CCD involves an interaction between pathogens and other stress factors. We present evidence that this condition is contagious or the result of exposure to a common risk factor. Potentially important areas for future hypothesis-driven research, including the possible legacy effect of mite parasitism and the role of honey bee resistance to pesticides, are highlighted.

Dangerous triplet: Polycystic ovary syndrome, oral contraceptives and Kounis syndrome.

PubMed

Erol, Nurdan; Karaagac, Aysu Turkmen; Kounis, Nicholas G

2014-12-26

Polycystic ovary syndrome is characterized by ovulatory dysfunction, androgen excess and polycystic ovaries and is associated with hypertension, diabetes, metabolic syndrome and cardiovascular events. Oral contraceptives constitute first-line treatment, particularly when symptomatic hyperandrogenism is present. However, these drugs are associated with cardiovascular events and hypersensitivity reactions that pose problem in differential diagnosis and therapy. We present a 14 year-old female with polycystic ovary syndrome taking oral contraceptive and suffering from recurrent coronary ischemic attacks with increased eosinophils, and troponin levels suggesting Kounis syndrome.

["Refuse hoarding syndrome"].

PubMed

Jürgens, A

2000-01-01

The "litter hoarding syndrome" is described only occasionally during the past decades. It seems to be rather unknown in the psychiatric literature. In the course of the syndrome the patients gather more and more litter in their homes until it becomes unhabitable. Physicians and social psychiatric services are often confronted with this manifestation of a psychiatric illness. Because of the dramatic development, the extent and the specific circumstances this paper reports case of a young female patient with the litter hoarding syndrome. The term "litter hoarding syndrome" was first coined by Dettmering [3] during a lecture on 25.1.1984 in the Psychiatric Clinic of the Eppendorf University Hospital in Hamburg. In 1985 Klosterkötter et al. [7] described the "diogenes syndrome" which offered some nosological similarities. With the exception of this publications an the PhD thesis by Pastenaci [11] only a few reports have been published during the last 28 years throughout the world and no epidemiological data about the syndrome can be found. Based on this case some ideas about differential diagnosis and syndrome classification shall be presented.

Psychological Well-Being of Mothers of Youth with Fragile X Syndrome: Syndrome Specificity and within-Syndrome Variability

ERIC Educational Resources Information Center

Lewis, P.; Abbeduto, L.; Murphy, M.; Richmond, E.; Giles, N.; Bruno, L.; Schroeder, S.; Anderson, J.; Orsmond, G.

2006-01-01

Background: Research on parental well-being has focused largely on Down syndrome and autism; however, fragile X syndrome is likely to pose different challenges for parents compared with these other diagnostic conditions. Moreover, there is considerable variability among youth with fragile X syndrome; for example, 25% to 33% of affected youth meet…

Gorlin-Goltz Syndrome

PubMed Central

Pandeshwar, Padma; Jayanthi, K.; Mahesh, D.

2012-01-01

The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome—NBCCS) is a rare autosomal dominant syndrome caused due to mutations in the PTCH (patched) gene found on chromosome arm 9q. The syndrome, characterized by increased predisposition to develop basal cell carcinoma and associated multiorgan anomalies, has a high level of penetrance and variable expressiveness. GGS is a multidisciplinary problem, early diagnosis of which allows introduction of secondary prophylaxis and following an appropriate treatment to delay the progress of the syndrome. The following report emphasizes the need for awareness of the diagnostic criteria of this syndrome in cases with no typical skin lesions. PMID:23082255

Hospitalizations and associated costs in a population-based study of children with Down syndrome born in Florida.

PubMed

Dawson, April L; Cassell, Cynthia H; Oster, Matthew E; Olney, Richard S; Tanner, Jean Paul; Kirby, Russell S; Correia, Jane; Grosse, Scott D

2014-11-01

Our objective was to examine differences in hospital resource usage for children with Down syndrome by age and the presence of other birth defects, particularly severe and nonsevere congenital heart defects (CHDs). This was a retrospective, population-based, statewide study of children with Down syndrome born 1998 to 2007, identified by the Florida Birth Defects Registry (FBDR) and linked to hospital discharge records for 1 to 10 years after birth. To evaluate hospital resource usage, descriptive statistics on number of hospitalized days and hospital costs were calculated. Results were stratified by isolated Down syndrome (no other coded major birth defect); presence of severe and nonsevere CHDs; and presence of major FBDR-eligible birth defects without CHDs. For 2552 children with Down syndrome, there were 6856 inpatient admissions, of which 68.9% occurred during the first year of life (infancy). Of the 2552 children, 31.7% (n = 808) had isolated Down syndrome, 24.0% (n = 612) had severe CHDs, 36.3% (n = 927) had nonsevere CHDs, and 8.0% (n = 205) had a major FBDR-eligible birth defect in the absence of CHD. Infants in all three nonisolated DS groups had significantly higher hospital costs compared with those with isolated Down syndrome. From infancy through age 4, children with severe CHDs had the highest inpatient costs compared with children in the other sub-groups. Results support findings that for children with Down syndrome the presence of other anomalies influences hospital use and costs, and children with severe CHDs have greater hospital resource usage than children with other CHDs or major birth defects without CHDs. © 2014 Wiley Periodicals, Inc.

Prevalence and risk factors for metabolic syndrome in Asian Indians: A community study from urban Eastern India.

PubMed

Prasad, D S; Kabir, Z; Dash, A K; Das, B C

2012-07-01

To determine the prevalence of metabolic syndrome and to identify predictors for the same, specific to an underdeveloped urban locale of Eastern India. Population-based cross-sectional study, with multistage random sampling technique. Urban city-dwellers in Orissa one of the poorest states of Eastern India bordering a prosperous state of Andhra Pradesh of Southern India. 1178 adults of age 20-80 years randomly selected from 37 electoral wards of the urban city. Definition of Metabolic Syndrome: We followed a unified definition of the metabolic syndrome by joint interim statement of five major scientific organizations - the International Diabetes Federation, the National Heart, Lung, and Blood Institute, the American Heart Association, the World Heart Federation, the International Atherosclerosis Society, and the International Association of the Study of Obesity. Individuals who meet at least three of five clinical criteria of abdominal obesity, hypertriglyceredimia, low HDL, hypertension, and hyperglycemia are diagnosed as having the condition; presence of none of these criteria is mandatory. Explicit cut points are defined for all criteria, except elevated waist circumference, which must rely on population and country-specific definitions. Prevalence and significant predictors of metabolic syndrome. Both descriptive and multivariable logistic regression analyses. Age-standardized prevalence rates of metabolic syndrome were 33.5% overall, 24.9 % in males and 42.3% in females. Older age, female gender, general obesity, inadequate fruit intake, hypercholesterolemia, and middle-to-high socioeconomic status significantly contributed to increased risk of metabolic syndrome. Metabolic syndrome is a significant public health problem even in one of the poorest states of India that needs to be tackled with proven strategies.

The motor repertoire in 3- to 5-month old infants with Down syndrome.

PubMed

Herrero, Dafne; Einspieler, Christa; Panvequio Aizawa, Carolina Y; Mutlu, Akmer; Yang, Hong; Nogolová, Alice; Pansy, Jasmin; Nielsen-Saines, Karin; Marschik, Peter B

2017-08-01

Even though Down syndrome is the most common chromosomal cause of intellectual disability, studies on early development are scarce. To describe movements and postures in 3- to 5-month-old infants with Down syndrome and assess the relation between pre- and perinatal risk factors and the eventual motor performance. Exploratory study; 47 infants with Down syndrome (26 males, 27 infants born preterm, 22 infants with congenital heart disease) were videoed at 10-19 weeks post-term (median=14 weeks). We assessed their Motor Optimality Score (MOS) based on postures and movements (including fidgety movements) and compared it to that of 47 infants later diagnosed with cerebral palsy and 47 infants with a normal neurological outcome, matched for gestational and recording ages. The MOS (median=13, range 10-28) was significantly lower than in infants with a normal neurological outcome (median=26), but higher than in infants later diagnosed with cerebral palsy (median=6). Fourteen infants with Down syndrome showed normal fidgety movements, 13 no fidgety movements, and 20 exaggerated, too fast or too slow fidgety movements. A lack of movements to the midline and several atypical postures were observed. Neither preterm birth nor congenital heart disease was related to aberrant fidgety movements or reduced MOS. The heterogeneity in fidgety movements and MOS add to an understanding of the large variability of the early phenotype of Down syndrome. Studies on the predictive values of the early spontaneous motor repertoire, especially for the cognitive outcome, are warranted. The significance of this exploratory study lies in its minute description of the motor repertoire of infants with Down syndrome aged 3-5 months. Thirty percent of infants with Down syndrome showed age-specific normal fidgety movements. The rate of abnormal fidgety movements (large amplitude, high/slow speed) or a lack of fidgety movements was exceedingly high. The motor optimality score of infants with Down

Nevoid basal cell carcinoma syndrome (Gorlin-Goltz syndrome)

PubMed Central

Kiran, N. K.; Tilak Raj, T. N.; Mukunda, K. S.; Rajashekar Reddy, V.

2012-01-01

The Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is an infrequent multisystemic disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterized by odontogenic keratocysts in the jaw, multiple basal cell nevi carcinomas and skeletal abnormalities. This syndrome may be diagnosed early by a dentist by routine radiographic exams in the first decade of life, since the odontogenic keratocysts are usually one of the first manifestations of the syndrome. This case report presents a patient diagnosed as NBCCS by clinical, radiographic and histological findings in a 13-year-old boy. This paper highlights the importance of early diagnosis of NBCCS which can help in preventive multidisciplinary approach to provide a better prognosis for the patient. PMID:23633824

Nevoid basal cell carcinoma syndrome (Gorlin-Goltz syndrome).

PubMed

Kiran, N K; Tilak Raj, T N; Mukunda, K S; Rajashekar Reddy, V

2012-10-01

The Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is an infrequent multisystemic disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterized by odontogenic keratocysts in the jaw, multiple basal cell nevi carcinomas and skeletal abnormalities. This syndrome may be diagnosed early by a dentist by routine radiographic exams in the first decade of life, since the odontogenic keratocysts are usually one of the first manifestations of the syndrome. This case report presents a patient diagnosed as NBCCS by clinical, radiographic and histological findings in a 13-year-old boy. This paper highlights the importance of early diagnosis of NBCCS which can help in preventive multidisciplinary approach to provide a better prognosis for the patient.

Business Education Course Descriptions. Course Descriptions for the Improvement of Business Education.

ERIC Educational Resources Information Center

Oklahoma State Dept. of Education, Oklahoma City.

Course descriptions are provided for 22 courses in the area of business education. Each description contains the following information: purpose, course objectives, outline of course content, list of optional topics, recommended types of evaluation, prerequisites, areas of interest, and curriculum sequence (grade level at which it should be…

[Klinefelter's syndrome associated with mixed connective tissue disease (Sharp's syndrome) and thrombophilia with postthrombotic syndrome].

PubMed

Kasten, Robert; Pfirrmann, Gudrun; Voigtländer, Volker

2005-08-01

A 43-year-old male with eunuchoid body proportions and a history of deep venous thromboses in the right leg presented with recurrent ulcers in the right perimalleolar region for 6 years. Karyotyping revealed a 47 XXY Klinefelter's syndrome, while serologic testing showed protein S deficiency, hyperhomocysteinemia and positive lupus anticoagulant. He also had mixed connective tissue disease (Sharp's syndrome) with acrosclerosis, proximal finger edema, Raynaud's phenomenon, and high titers of ANA and U1-RNP-antibodies, as well as osteoporosis. There is evidence that patients with Klinefelter's syndrome are prone to develop connective tissue diseases and thrombophilia as a result of low androgen levels. Substitution of testosterone in Klinefelter's syndrome can have a favorable therapeutic effect on the associated connective tissue disease, thrombophilia and osteoporosis.

[Inherited colorectal cancer predisposition syndromes identified in the Instituto Nacional de Enfermedades Neoplasicas (INEN), Lima, Peru;].

PubMed

Castro-Mujica, María del Carmen; Sullcahuamán-Allende, Yasser; Barreda-Bolaños, Fernando; Taxa-Rojas, Luis

2014-04-01

Colorectal cancer (CRC) is the fourth most common cancer in the world and is classified according to their origin in sporadic CRC (~ 70%) and genetic CRC (~ 30%), this latter involves cases of familial aggregation and inherited síndromes that predispose to CRC. To describe inherited CRC predisposition syndromes, polyposic and non-polyposic, identified in the Oncogenetics Unit at National Institute of Cancer Disease (INEN). A descriptive observational record from the attentions of the Oncogenetics Unit at INEN during 2009 to 2013. We included patients with personal or familiar history of CRC and/or colonic polyposis who were referred for clinical assessment to the Oncogenetics Unitat INEN. 59.3 % were female, 40.7 % male, 69.8% under 50 years old, 60.5% had a single CRC, 23.2% had more than one CRC or CRC associated with other extracolonic neoplasia and 32.6% had a familiar history of cancer with autosomal dominant inheritance. According to the clinical genetic diagnosis, 93.1% of the included cases were inherited syndromes that predispose to CRC, with 33.8% of colonic polyposis syndromes, 23.3% of hereditary nonpolyposis CRC syndromes (HNPCC) and 36.0% of CCRHNP probable cases. Clinical genetic evaluation of patients with personal or familiar history of CRC and/or colonic polyposis can identify inherited colorectal cancer predisposition syndromes and provide an appropriategenetic counseling to patients and relatives at risk, establishing guidelines to follow-up and prevention strategies to prevent morbidity and mortality by cancer.

Turner Syndrome (For Teens)

MedlinePlus

... Staying Safe Videos for Educators Search English Español Turner Syndrome KidsHealth / For Teens / Turner Syndrome What's in this ... en español El síndrome de Turner What Is Turner Syndrome? Turner syndrome (TS) is a genetic condition found ...

Shifting syndromes: Sex chromosome variations and intersex classifications

PubMed Central

Griffiths, David Andrew

2018-01-01

The 2006 ‘Consensus statement on management of intersex disorders’ recommended moving to a new classification of intersex variations, framed in terms of ‘disorders of sex development’ or DSD. Part of the rationale for this change was to move away from associations with gender, and to increase clarity by grounding the classification system in genetics. While the medical community has largely accepted the move, some individuals from intersex activist communities have condemned it. In addition, people both inside and outside the medical community have disagreed about what should be covered by the classification system, in particular whether sex chromosome variations and the related diagnoses of Turner and Klinefelter’s syndromes should be included. This article explores initial descriptions of Turner and Klinefelter’s syndromes and their subsequent inclusion in intersex classifications, which were increasingly grounded in scientific understandings of sex chromosomes that emerged in the 1950s. The article questions the current drive to stabilize and ‘sort out’ intersex classifications through a grounding in genetics. Alternative social and historical definitions of intersex – such as those proposed by the intersex activists – have the potential to do more justice to the lived experience of those affected by such classifications and their consequences. PMID:29424285

Fragile X syndrome

MedlinePlus

Martin-Bell syndrome; Marker X syndrome ... Fragile X syndrome is caused by a change in a gene called FMR1 . A small part of the gene ... repeated several times in one area of the X chromosome. The more repeats, the more likely the ...

Descriptive Metadata: Emerging Standards.

ERIC Educational Resources Information Center

Ahronheim, Judith R.

1998-01-01

Discusses metadata, digital resources, cross-disciplinary activity, and standards. Highlights include Standard Generalized Markup Language (SGML); Extensible Markup Language (XML); Dublin Core; Resource Description Framework (RDF); Text Encoding Initiative (TEI); Encoded Archival Description (EAD); art and cultural-heritage metadata initiatives;…

[PATHOPHYSIOLOGY OF THE CARDIORENAL SYNDROME].

PubMed

Balint, I; Vučak, J; Bašić-Marković, N; Klarić, D; Šakić, V Amerl

2016-12-01

Cardiorenal syndrome, a complex pathophysiological disorder of both the heart and kidneys, is a condition in which acute or chronic damage to one organ can lead to acute or chronic dysfunction of the other organ. Depending on primary organ dysfunction and disease duration, there are five different types of cardiorenal syndrome. Type 1 cardiorenal syndrome (acute cardiorenal syndrome) is defined as acute kidney injury caused by sudden decrease in heart function. Type 2 cardiorenal syndrome (chronic cardiorenal syndrome) refers to chronic kidney disease linked to chronic heart failure. Type 3 cardiorenal syndrome (acute renocardial syndrome) is caused by acute kidney injury that leads to heart failure. Type 4 cardiorenal syndrome (chronic renocardial syndrome) includes chronic heart failure due to chronic kidney disease. Type 5 cardiorenal syndrome (secondary cardiorenal syndrome) is reversible or irreversible condition marked by simultaneous heart and kidney insufficiency, as a result of multiorgan disease such as sepsis, diabetes mellitus, sarcoidosis, amyloidosis, etc. The pathophysiological patterns of cardiorenal syndrome are extremely complicated. Despite numerous publications, perplexed physiological, biochemical and hormonal disturbances as parts of the main pathogenic mechanisms of cardiorenal syndrome remain obscure. Even though there are guidelines for the treatment of patients with heart failure and chronic kidney disease, similar guidelines for the treatment of cardiorenal syndrome are lacking. In everyday practice, it is crucial to diagnose cardiorenal syndrome and use all diagnostic and therapeutic procedures available to prevent or alleviate kidney and heart failure.