WorldWideScience

Sample records for syndrome dentofacial features

  1. Cephalometric analysis of hard and soft tissues in a 12-year-old syndromic child: A case report and update on dentofacial features of Crouzon syndrome

    Directory of Open Access Journals (Sweden)

    K Nagaraju

    2011-01-01

    Full Text Available Crouzon syndrome or craniofacial dysostosis is a rare syndrome characterized by craniosynostosis, midfacial hypoplasia and exophthalmia. The abnormalities found in this syndrome change too much from case to case depending on the suture fusion order. We report a case of a 12 year old child and a mother showing variations in the dentofacial tissues clinically and radiographically. Subsequently, the application of digital software [Dolphin Imaging 11] enabled us to solve out the case as Crouzon syndrome by analyzing the skeletal and soft tissue alterations. An update of the effects of this syndrome on various systems and dentofacial features with emphasis on tooth abnormalities is documented.

  2. Cephalometric analysis of hard and soft tissues in a 12-year-old syndromic child: a case report and update on dentofacial features of Crouzon syndrome.

    Science.gov (United States)

    Nagaraju, K; Ranadheer, E; Suresh, P; Tarun, S P

    2011-01-01

    Crouzon syndrome or craniofacial dysostosis is a rare syndrome characterized by craniosynostosis, midfacial hypoplasia and exophthalmia. The abnormalities found in this syndrome change too much from case to case depending on the suture fusion order. We report a case of a 12 year old child and a mother showing variations in the dentofacial tissues clinically and radiographically. Subsequently, the application of digital software [Dolphin Imaging 11] enabled us to solve out the case as Crouzon syndrome by analyzing the skeletal and soft tissue alterations. An update of the effects of this syndrome on various systems and dentofacial features with emphasis on tooth abnormalities is documented.

  3. Impact of bullying due to dentofacial features on oral health-related quality of life.

    Science.gov (United States)

    Al-Omari, Iyad K; Al-Bitar, Zaid B; Sonbol, Hawazen N; Al-Ahmad, Hazem T; Cunningham, Susan J; Al-Omiri, Mahmoud

    2014-12-01

    The aim of this study was to investigate whether there is a relationship between self-reported bullying because of dentofacial features and oral health-related quality of life among a representative sample of Jordanian schoolchildren. This was a cross-sectional study in which a representative sample of sixth-grade students (age, 11-12 years) from randomly selected schools in Amman, Jordan, were asked to complete questionnaires distributed in the classroom in the presence of the researchers. The questionnaire used for this purpose was the short form of the Child Perceptions Questionnaire for 11- to 14-year-old children. The final sample size was 920 children (470 girls, 450 boys). There were significant differences between the sexes for the total Child Perceptions Questionnaire score and for the oral symptoms and the social well-being subscales, with boys reporting higher scores and thus more negative effects on their oral health-related quality of life. Comparison of the total scores and subscales scores for boys and girls subdivided into those who reported being bullied and not being bullied about their teeth showed that bullied boys had significantly greater effects on overall oral health-related quality of life and on all subscales than did not-bullied boys (P Bullied girls also had significantly greater effects on the overall oral health-related quality of life and all subscales than did not-bullied girls (P bullied boys and girls reported similar scores for the different subscales of the Child Perceptions Questionnaire; there were no significant differences. This study demonstrated a significant relationship between bullying because of dentofacial features and negative effects on oral health-related quality of life. The results highlight the importance of addressing the bullying problem among schoolchildren and provide important data for educational authorities to create antibullying programs to help students receive education in a safe and healthy

  4. Accounts of bullying on Twitter in relation to dentofacial features and orthodontic treatment.

    Science.gov (United States)

    Chan, A; Antoun, J S; Morgaine, K C; Farella, M

    2017-04-01

    Social media offers an accessible resource for gaining valuable insights into the social culture of bullying. The purpose of this study was to qualitatively analyse Twitter posts for common themes relating to dentofacial features, braces and bullying. Twitter's database was searched from 2010 to 2014 using keywords relevant to bullying, teeth and orthodontics. Two investigators assessed the Twitter posts, and selected those that conveyed the experiences or opinions of bullying victims. The posts were qualitatively analysed using thematic analysis. Of the 548 posts screened, 321 were included in the final sample. Four primary categories relating to 'dental-related bullying' were identified: (i) morphological features, (ii) psychological and psychosocial impact, (iii) coping mechanisms and (iv) the role of family. Bullied individuals reported a diverse range of psychological impacts and coping mechanisms. Secondary categories were also identified. Family members, for example, were found to play both a contributory and mediatory role in bullying. In summary, social media can provide new and valuable information about the causal factors and social issues associated with oral health-related bullying. Importantly, some coping mechanisms may mitigate the negative effects of bullying. © 2017 John Wiley & Sons Ltd.

  5. Bullying among Jordanian schoolchildren, its effects on school performance, and the contribution of general physical and dentofacial features.

    Science.gov (United States)

    Al-Bitar, Zaid B; Al-Omari, Iyad K; Sonbol, Hawazen N; Al-Ahmad, Hazem T; Cunningham, Susan J

    2013-12-01

    The aims of this study were to investigate the experience of bullying in a representative sample of Jordanian schoolchildren in Amman, to look at its effect on school attendance and perception of academic performance, and to look at the contribution of general physical and dentofacial features to this phenomenon. This was a cross-sectional study in which a representative sample of sixth-grade students (11-12 years of age) from randomly selected schools was asked to complete questionnaires distributed in the classroom in the presence of the researchers. The final sample size was 920 children (470 girls, 450 boys). The prevalence of bullying was 47% (n = 433); significantly more boys reported being bullied than girls (P bullying reported playing truant from school and disliking school than those who were not bullied. Teeth were the number 1 feature targeted for bullying, followed by strength and weight. The 3 most commonly reported dentofacial features targeted by bullies were spacing between the teeth or missing teeth, shape or color of the teeth, and prominent maxillary anterior teeth. This study demonstrated a high prevalence of bullying in Jordanian schools, with many children experiencing bullying because of their dental or facial appearance. Copyright © 2013 American Association of Orthodontists. Published by Mosby, Inc. All rights reserved.

  6. Cephalometric Evaluation of Dentofacial Features of Class III Malocclusion in Adults of Mashhad, Iran

    Directory of Open Access Journals (Sweden)

    Maryam Pousti

    2007-12-01

    Full Text Available

    Background and aims. Class III malocclusions are considered as one of the most complex orthodontic problems to diagnose and treat. Numerous studies have been conducted to determine the morphologic characteristics of craniofacial complex in patients with this malocclusion. The aim of this study was to determine the dentofacial characteristics of Class III malocclusion in Mashhadian adults.

    Materials and Methods. This cross-sectional descriptive study consisted of 114 cephalograms including 57 individuals with Class III malocclusion (28 males and 29 females with mean age of 19.28 years as the case group, and 57 adults with uncrowded Class I occlusion (28 males and 29 females with mean age of 17.2 years as the control group. Cephalometric evaluation was performed by measuring nine angular and nine linear measurements and the dentofacial characteristics of two groups were compared by Student’s t-test.

    Results. SNA angle, the distance from A point to Nasion perpendicular and the maxillary effective length was significantly lower in Class III group, while SNB and SN-Pog angles were significantly higher compared to control group. Mandibular effective length did not differ in two groups. Maxillary incisor protrusion and mandibular incisor retrusion in Class III subjects was also observed. From the vertical aspect, only mandibular plane angle showed an increase in Class III group (P < 0.05.

    Conclusion. Maxillary deficiency, mandibular prognathism, maxillary incisors protrusion and mandibular incisors retrusion are present in individuals with Class III malocclusion, but mandibular effective length does not differ significantly from Class I patients.

  7. Mobius syndrome: MRI features

    International Nuclear Information System (INIS)

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

    2003-01-01

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

  8. Bullying, its effects on attitude towards class attendance and the contribution of physical and dentofacial features among adolescents in Northern Nigeria.

    Science.gov (United States)

    Chikaodi, Oguchi; Abdulmanan, Yahaya; Emmanuel, Adeyemi Tope; Muhammad, Jibril; Mohammed, Modu Adam; Izegboya, Akpasa; Donald, Otuyemi Olayinka; Balarabe, Sani

    2017-07-21

    Background Bullying is a worldwide problem with varying consequences. Victims of school bullying may be targeted for many reasons including their appearance. They may also fear school and have difficulties in concentration. Objective This study aimed to determine the prevalence of bullying amongst adolescents in Kano, Northern Nigeria, the contribution of physical features and the perceived effect of bullying on their academic performance and school attendance. Subjects and methods Eight hundred and thirty-five students aged between 12 years and 17 years from eight randomly selected secondary schools in Kano, Nigeria took part in this study. Data collection was by self-administered questionnaires and analysis was by SPSS version 17. Results The pupils' mean age and standard deviation was 14.79 + 1.53 years. There were more male and private school pupils with 55.1% and 62%, respectively. About 43% of respondents reported being victims of bullying while about 32% had bullied someone else. There was more bullying in public schools than in private schools (p-value = 0.003). However, there was no significant gender difference (p > 0.05). More bullied pupils hated being in or outside the classroom (p bullied pupils played truant than non-bullied (p bullying felt it had consequences on their academic performance. Bullies frequently targeted general physical and dento-facial appearance. Conclusion The prevalence of bullying was high among the sampled population especially within public schools. This also had a significant negative effect on the students' academic performance.

  9. Dentofacial characteristics of patients with hypodontia

    NARCIS (Netherlands)

    Creton, Marijn A.; Cune, Marco S.; Putter, Cornelis de; Ruijter, Jan M.; Kuijpers-Jagtman, Anne Marie

    This study aims to identify distinctive dentofacial characteristics of hypodontia patients. For this purpose, 189 young hypodontia patients (cases) were divided into subgroups, based on criteria from literature. Normalised differences between cases and controls were calculated for various parameters

  10. Roentgenologic features of the Meckel syndrome

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    Seppaenen, U.; Herva, R.

    1983-09-21

    The Meckel syndrome is an autosomal recessive lethal malformation syndrome. The main features are multicystic dysplastic kidneys, microcephaly with occipital encephalocele and polydactyly. This paper describes 6 new cases, with special reference to skeletal findings in postmortem total body radiographs Microcephaly with an occipital bone defect and encephalocele or hydrocephaly (1/6), short upper extremities, bell-shaped thorax with abdominal distension and postaxial polydactyly in the hands and feet were constant findings in these cases.

  11. Roentgenologic features of the Meckel syndrome

    International Nuclear Information System (INIS)

    Seppaenen, U.; Herva, R.

    1983-01-01

    The Meckel syndrome is an autosomal recessive lethal malformation syndrome. The main features are multicystic dysplastic kidneys, microcephaly with occipital encephalocele and polydactyly. This paper describes 6 new cases, with special reference to skeletal findings in postmortem total body radiographs Microcephaly with an occipital bone defect and encephalocele or hydrocephaly [1/6], short upper extremities, bell-shaped thorax with abdominal distension and postaxial polydactyly in the hands and feet were constant findings in these cases. (orig.)

  12. CLINICAL AND IMAGING FEATURES OF OTHELLO'S SYNDROME

    Science.gov (United States)

    Graff-Radford, Jonathan; Whitwell, Jennifer L.; Geda, Yonas E.; Josephs, Keith A.

    2011-01-01

    Background Our objective was to document the clinical and imaging features of Othello's syndrome (delusional jealousy). Methods The study design was a retrospective case series of 105 patients with Othello's syndrome that were identified by using the Electronic Medical Record system of Mayo Clinic. Results The average age at onset of Othello's syndrome was 68 (25–94) years with 61.9% of patients being male. Othello's syndrome was most commonly associated with a neurological disorder (73/105) compared with psychiatric disorders (32/105). Of the patients with a neurological disorder, 76.7% had a neurodegenerative disorder. Seven of eight patients with a structural lesion associated with Othello's syndrome had right frontal lobe pathology. Voxel-based morphometry showed greater grey matter loss predominantly in the dorsolateral frontal lobes in the neurodegenerative patients with Othello's compared to matched patients with neurodegenerative disorders without Othello's syndrome. Treatment success was notable for patients with dopamine agonist induced Othello's syndrome in which all six patients had improvement in symptoms following decrease in medication. Conclusions This study demonstrates that Othello's syndrome occurs most frequently with neurological disorders. This delusion appears to be associated with dysfunction of the frontal lobes, especially right frontal lobe. PMID:21518145

  13. Facial and Ocular Features of Marfan Syndrome

    Directory of Open Access Journals (Sweden)

    Juan C. Leoni

    2014-10-01

    Full Text Available Marfan syndrome is the most common inherited disorder of connective tissue affecting multiple organ systems. Identification of the facial, ocular and skeletal features should prompt referral for aortic imaging since sudden death by aortic dissection and rupture remains a major cause of death in patients with unrecognized Marfan syndrome. Echocardiography is recommended as the initial imaging test, and once a dilated aortic root is identified magnetic resonance or computed tomography should be done to assess the entire aorta. Prophylactic aortic root replacement is safe and has been demonstrated to improve life expectancy in patients with Marfan syndrome. Medical therapy for Marfan syndrome includes the use of beta blockers in older children and adults with an enlarged aorta. Addition of angiotensin receptor antagonists has been shown to slow the progression of aortic root dilation compared to beta blockers alone. Lifelong and regular follow up in a center for specialized care is important for patients with Marfan syndrome. We present a case of a patient with clinical features of Marfan syndrome and discuss possible therapeutic interventions for her dilated aorta.

  14. Dermatologic features of Smith-Magenis syndrome.

    Science.gov (United States)

    Guérin-Moreau, Morgane; Colin, Estelle; Nguyen, Sylvie; Andrieux, Joris; de Leersnyder, Hélène; Bonneau, Dominique; Martin, Ludovic

    2015-01-01

    Smith-Magenis syndrome (SMS) is characterized by distinctive facial and skeletal features, developmental delay, cognitive impairment, and behavioral abnormalities, including self-injurious behaviors. We aimed to investigate whether cutaneous features are common in SMS. We performed a complete skin examination in 20 young SMS patients. Skin features secondary to self-injurious behavior, such as bites, abrasions, dystrophic scars, limited spots of hyperkeratosis, anomalies of the nails, and whitlows, were found in the majority of patients. Acral pachydermia and fissured plantar keratoderma were common. Xerosis was constant and associated with extensive keratosis pilaris in the majority of patients. Dermatofibromas were frequent in older patients. The hair was dense and shiny, with an unusual hairline. Eyelash trichomegaly and heavy brows were common, as well as folliculitis on the back. The skin features of SMS have rarely been reported in the literature. Some of these are the consequence of neurobehavioral features, but some cutaneous features and abnormalities of appendages have not been reported in other related syndromes. Skin manifestations of SMS are varied, sometimes induced by self-injurious behavior and sometimes more specific. It remains to be determined whether the combination of the two kinds of signs could contribute to early diagnosis of the syndrome. © 2015 Wiley Periodicals, Inc.

  15. Popliteal pterygium syndrome: Orofacial and general features

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    S K Bahetwar

    2011-01-01

    Full Text Available This report describes the case of a 13-year-old Indian boy with popliteal pterygium syndrome. The popliteal pterygium syndrome is an extremely rare hereditary disorder thought to occur with an incidence of approximately 1 in 300000 live births. It is a congenital malformation syndrome affecting the face, limbs, and genitalia with highly characteristic features, including popliteal webbing, cleft palate (with or without cleft lip, lower lip pits, syndactyly, and genital and nail anomalies. This patient was referred to our department because of complaints of pain in the mouth and poor oral health. The orofacial findings included cleft lip, cleft palate, lower lip pits, a few missing teeth, and severely decayed teeth. In this syndrome, the orodental problems are overshadowed by the major syndromic manifestations but nevertheless need appropriate management. These patients have special dental needs and early diagnosis of the affected children is therefore important in order to initiate preventive dental care and carry out appropriate dental treatment at the optimal time.

  16. Radiological features of late-onset lymphoedema in Noonan's syndrome

    International Nuclear Information System (INIS)

    Ho, Wan-Ling; Wang, Jou-Kou; Li, Yiu-Wah

    2003-01-01

    Noonan's syndrome is a multiple congenital anomaly syndrome with diverse manifestations. Lymphatic abnormalities occur in less than 20% of patients. We report a 14-year-old boy who presented with swollen lower limbs and dysmorphic features characteristic of Noonan's syndrome. The radiological features of this unusual case of late-onset lymphoedema in association with Noonan's syndrome are presented. (orig.)

  17. Clinical Features of Chinese of Chinese Patients with Fuchs' Syndrome

    NARCIS (Netherlands)

    Peizeng Yang,; Haoli Jin,; Bing Li,; Xuan Chen,; Kijlstra, A.

    2006-01-01

    Purpose: To characterize the clinical features of Chinese patients with Fuchs' syndrome. Design: Retrospective noncomparative case series. Participants: One hundred eighteen eyes of 104 consecutive patients with Fuchs' syndrome initially examined between January 1999 and March 2005. Methods: The

  18. Loose anagen hair syndrome associated with colobomas and dysmorphic features

    DEFF Research Database (Denmark)

    Hansen, Lars Kjaersgård; Brandrup, Flemming; Clemmensen, Ole

    2004-01-01

    Loose anagen hair syndrome is an uncommon congenital disorder. It may occur in association with other syndromes and dysmorphic features. We report a girl who fulfilled the diagnostic criteria for this syndrome as proposed by Tosti (Arch Dermatol 2002, 138: 521-522). She also had several other...

  19. Loose anagen hair syndrome associated with colobomas and dysmorphic features

    DEFF Research Database (Denmark)

    Hansen, Lars Kjaersgård; Brandrup, Flemming; Clemmensen, Ole

    2004-01-01

    Loose anagen hair syndrome is an uncommon congenital disorder. It may occur in association with other syndromes and dysmorphic features. We report a girl who fulfilled the diagnostic criteria for this syndrome as proposed by Tosti (Arch Dermatol 2002, 138: 521-522). She also had several other ano...

  20. Radiologic features of preteus syndrome: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Ok Hwa [Dept. of Radiology, Haeundae Paik Hospital, Inje University College of Medicine, Busan (Korea, Republic of)

    2014-04-15

    Proteus syndrome is a rare congenital hamartomatous condition that is characterized by a wide range of malformations with overgrowth of various tissues. The author reports the case of a Proteus syndrome in a 14-year-old girl who had the unique features of this syndrome including megaspondylodysplasia with resultant scoliosis, leg discrepancy, macrodactyly, clinodactyly, hyperostosis in external auditory meatus, asymmetric megalencephaly, splenomegaly, cystic lung changes, asymmetric soft tissue fat infiltrations and a long, asymmetric face, with descriptions of the radiological features.

  1. Diagnostic features of polycystic ovary syndrome

    African Journals Online (AJOL)

    2006-02-17

    Feb 17, 2006 ... Polycystic ovary syndrome (PCOS) is one of the commonest endocrinopathies in women.1 It was first described by Stein and Leventhal2 in 1935, as the association of infertility, obesity, hirsutism and bilateral enlarged polycystic ovaries. As a syndrome, PCOS has had an interesting history, with much ...

  2. Savant Syndrome: Clinical and Neuropsychological Features

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    Ibrahim Durukan

    2010-08-01

    Full Text Available Savant syndrome defines the people who have severe developmental and mental disabilities but also have extraordinary mental skills which are missing in many people. Although general mental capacity is under average mental level, savant has excessive knowledge about one or more domains. It is accepted that as many as one in 10 persons with autistic disorder have such remarkable abilities in varying degrees, although savant syndrome occurs in other developmental disabilities or in other types of central nervous system injury or disease as well. Males outnumber females by an approximate 6 : 1 ratio in savant syndrome. Savant skills are limited to five general categories. These are music, art, calender calculating, mathematics and mechanical or spatial skills. Savant skills can also be divided into three as savants who have splinter skills, talented savants and prodigious savants. A remarkable memory welds to the special abilities determined in savant syndrome. Savant syndrome can be congenital or it can be acquired. Most often savant skills emerge in childhood, superimposed on some underlying developmental disability present at birth. However, acquired savant skills can also appear, when none were previously present, in neurotypical individuals following brain injury or disease later in infancy, childhood or adult life. Savant skills don’t depend on only rote memory. It is approved that an enhanced or spared ability to represent and manipulate highly organised domain-specific information. Various theoretic models were defined to explain the neuropsychological profile in savant syndrome. Interest in savants has a long history, stretching back to the early 18th century; nevertheless, the savant syndrome remains as much a mystery now as it did when it was first described. Given that many questions about the existence and nature of savant talent remain unanswered, it seems likely that research efforts will continue unabated.

  3. Double trisomy (48,XXX,+18) with features of Roberts syndrome

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    Descartes, M.; Longshore, J.W.; Crawford, E. [Univ. of Alabama, Birmingham, AL (United States)] [and others

    1994-09-01

    We report an infant with double trisomy 48,XXX,+18, who also displayed features of Roberts syndrome. All previously published cases with similar double trisomy have presented with features of trisomy 18 syndrome. The chromosome analysis done at birth revealed the double trisomy; parental chromosomes were normal. The proband presented with microbrachycephaly, unilateral cleft lip and palate, choanal atresia, midfacial capillary hemanioma, thin nares, shallow orbits, malformed ears, sparse hair, hypomelia of the upper limbs, rocker-bottom feet, auricular septal defect and agenesis of the corpus callosum. Characteristic features of Roberts syndrome included hypomelia, midfacial defects, and severe growth deficiency. Among the many different features reported in the literature for patients with trisomy 18 syndrome, the most consistent were growth deficiency, clenched fingers and congenital heart defects (e.g. VSD, ASD, PDA). Although some of our patient`s features such as cleft lip and cleft palate, low-set malformed ears, ASD, defects of the corpus callosum, choanal atresia, radial aplasia could also be seen in trisomy 18 syndrome (in 10-50% of the cases), her phenotype was more typical of Roberts syndrome because of symmetrical hypomelia and midfacial defects. Our patient`s chromosomes did not show premature separation of centromeric heterochromatin, a feature reported to occur in approximately one-half of individuals with Roberts syndrome. Sporadic aneuploidy involving different chromosomes has been found in lymphocyte cultures from some Roberts syndrome patients and is considered by some authors as a mitotic mutant. This aneuploidy is most likely to be chromosome gain. The simultaneous occurrence of trisomy X and 18 is extremely rare with only 11 cases having been reported in the literature. Our patient is unique since she has the double trisomy in addition to the characteristic features of Roberts syndrome.

  4. Perinatal clinical and imaging features of CLOVES syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Fernandez-Pineda, Israel [Virgen del Rocio Children' s Hospital, Department of Pediatric Surgery, Seville (Spain); Fajardo, Manuel [Virgen del Rocio Children' s Hospital, Department of Pediatric Radiology, Seville (Spain); Chaudry, Gulraiz; Alomari, Ahmad I. [Children' s Hospital Boston and Harvard Medical School, Division of Vascular and Interventional Radiology, Boston, MA (United States)

    2010-08-15

    We report a neonate with antenatal imaging features suggestive of CLOVES syndrome. Postnatal clinical and imaging findings confirmed the diagnosis, with the constellation of truncal overgrowth, cutaneous capillary malformation, lymphatic and musculoskeletal anomalies. The clinical, radiological and histopathological findings noted in this particular phenotype help differentiate it from other overgrowth syndromes with complex vascular anomalies. (orig.)

  5. Clinical features of Chinese patients with Fuchs' syndrome

    NARCIS (Netherlands)

    Yang, Peizeng; Fang, Wang; Jin, Haoli; Li, Bing; Chen, Xuan; Kijlstra, Aize

    2006-01-01

    To characterize the clinical features of Chinese patients with Fuchs' syndrome. Retrospective noncomparative case series. One hundred eighteen eyes of 104 consecutive patients with Fuchs' syndrome initially examined between January 1999 and March 2005. The history and clinical findings of all

  6. Sonographic features of lethal multiple pterygium syndrome at 14 weeks.

    Science.gov (United States)

    Chen, Min; Chan, Gavin Shueng Wai; Lee, Chin Peng; Tang, Mary Hoi Yin

    2005-06-01

    Lethal multiple pterygium syndrome is a rare inherited disorder. Previous reports suggest that the diagnosis may be based on prenatal sonographic demonstration of severe limb flexion, absence of fetal motion, and a large cystic hygroma in the second and third trimesters. We present the sonographic features and postmortem features of a fetus with lethal multiple pterygium syndrome at 13 weeks of gestation, which shows that the condition can possibly be diagnosed in the first trimester of pregnancy.

  7. Neuroimaging Features of San Luis Valley Syndrome

    Directory of Open Access Journals (Sweden)

    Matthew T. Whitehead

    2015-01-01

    Full Text Available A 14-month-old Hispanic female with a history of double-outlet right ventricle and developmental delay in the setting of recombinant chromosome 8 syndrome was referred for neurologic imaging. Brain MR revealed multiple abnormalities primarily affecting midline structures, including commissural dysgenesis, vermian and brainstem hypoplasia/dysplasia, an interhypothalamic adhesion, and an epidermoid between the frontal lobes that enlarged over time. Spine MR demonstrated hypoplastic C1 and C2 posterior elements, scoliosis, and a borderline low conus medullaris position. Presented herein is the first illustration of neuroimaging findings from a patient with San Luis Valley syndrome.

  8. Joubert syndrome with orofacial digital features

    Directory of Open Access Journals (Sweden)

    Parveen Bhardwaj

    2018-01-01

    Full Text Available Joubert syndrome (JS is an autosomal recessive inherited disorder characterized by hypotonia, cerebellar vermis hypoplasia, ocular abnormalities (e.g., pigmentary retinopathy, oculomotor apraxia, and nystagmus, renal cysts, and hepatic fibrosis. Respiratory abnormalities, as apnea and hyperpnea, may be present, as well as mental retardation. Since the clinical findings of JS are quite heterogeneous, determination of radiological findings is essential.

  9. Joubert Syndrome with Orofacial Digital Features.

    Science.gov (United States)

    Bhardwaj, Parveen; Sharma, Minoo; Ahluwalia, Karan

    2018-01-01

    Joubert syndrome (JS) is an autosomal recessive inherited disorder characterized by hypotonia, cerebellar vermis hypoplasia, ocular abnormalities (e.g., pigmentary retinopathy, oculomotor apraxia, and nystagmus), renal cysts, and hepatic fibrosis. Respiratory abnormalities, as apnea and hyperpnea, may be present, as well as mental retardation. Since the clinical findings of JS are quite heterogeneous, determination of radiological findings is essential.

  10. Thoracic endometriosis syndrome: CT and MRI features

    International Nuclear Information System (INIS)

    Rousset, P.; Rousset-Jablonski, C.; Alifano, M.; Mansuet-Lupo, A.; Buy, J.-N.; Revel, M.-P.

    2014-01-01

    Thoracic endometriosis is considered to be rare, but is the most frequent form of extra-abdominopelvic endometriosis. Thoracic endometriosis syndrome affects women of reproductive age. Diagnosis is mainly based on clinical findings, which can include catamenial pneumothorax and haemothorax, non-catamenial endometriosis-related pneumothorax, catamenial haemoptysis, lung nodules, and isolated catamenial chest pain. Symptoms are typically cyclical and recurrent, with a right-sided predominance. Computed tomography (CT) is the first-line imaging method, but is poorly specific; therefore, its main role is to rule out other pulmonary diseases. However, in women with a typical clinical history, some key CT findings may help to confirm this often under-diagnosed syndrome. MRI can also assist with the diagnosis, by showing signal changes typical of haemorrhage within diaphragmatic or pleural lesions

  11. Immunologic features of Cornelia de Lange syndrome.

    Science.gov (United States)

    Jyonouchi, Soma; Orange, Jordan; Sullivan, Kathleen E; Krantz, Ian; Deardorff, Matthew

    2013-08-01

    Cornelia de Lange syndrome (CdLS) is a genetic syndrome with multisystem abnormalities. Infections are a significant cause of morbidity and mortality. The goals of our study were to identify the frequency and types of infections in CdLS and to determine if underlying immunodeficiency contributes to the clinical spectrum of this syndrome. We assessed infectious histories in 45 patients with CdLS and evaluated conventional immunologic screening tests in 27 patients. Among these 27 subjects, additional phenotypic enumeration of T-cell subsets, expression of activation markers in T cells, and production of cytokines in response to T-cell stimulants were studied in 12 CdLS subjects compared with 12 normal case control subjects. Recurrent infections were reported at high frequency in CdLS patients and included chronic ear infections (53%), chronic viral respiratory infections (46%), pneumonia (42%), sinus infections (33%), oral candidiasis (13%), sepsis (6%), and bacterial skin infections (4%). Full immune evaluation in 27 subjects led to identification of 9 cases of antibody deficiency syndrome in patients with severe forms of CdLS. Subjects with CdLS had decreased percentages of T regulatory cells and T follicular helper cells compared with normal control subjects (P < .05). This study identified for the first time a high frequency of antibody deficiency in CdLS subjects, indicating a critical need for screening and management of immunodeficiency in CdLS patients with a history of well-documented severe or recurrent infections. Furthermore, our results indicate that impaired T-cell populations may be associated with antibody deficiency in CdLS.

  12. Neuroimaging features of Cornelia de Lange syndrome.

    Science.gov (United States)

    Whitehead, Matthew T; Nagaraj, Usha D; Pearl, Phillip L

    2015-07-01

    Cornelia de Lange syndrome is a rare genetic disease characterized by distinctive facial dysmorphia and dwarfism. Multiple organ system involvement is typical. Various central nervous system (CNS) aberrations have been described in the pathology literature; however, the spectrum of neuroimaging manifestations is less well documented. To present neuroimaging findings from a series of eight patients with Cornelia de Lange syndrome. The CT/MR database at a single academic children's hospital was searched for the terms "Cornelia," "Brachmann" and "de Lange." The search yielded 18 exams from 16 patients. Two non-CNS and six exams without available images were excluded. Ten exams from eight patients were evaluated by a board-certified neuroradiologist. All patients had skull base dysplasia, most with an unusual coronal basioccipital cleft (7/8). All brain MR exams showed microcephaly, volume loss and gyral simplification (5/5). Six patients had an absent massa intermedia. Four patients had small globe anterior segments; three had optic pathway hypoplasia. Basilar artery fenestration was present in two patients; vertebrobasilar hypoplasia was present in one patient. The inner ear vestibules were dysplastic in two patients. One patient had pachymeningeal thickening. Spinal anomalies included scoliosis, segmentation anomalies, endplate irregularities, basilar invagination, foramen magnum stenosis and tethered spinal cord. Typical imaging manifestations of Cornelia de Lange syndrome include skull base dysplasia with coronal clival cleft, cerebral and brainstem volume loss, and gyral simplification. Membranous labyrinth dysplasia, anterior segment and optic pathway hypoplasia, basilar artery fenestration, absent massa intermedia and spinal anomalies may also be present.

  13. MANAGEMENT OF THE ORAL-FEATURES OF SJOGREN SYNDROME

    NARCIS (Netherlands)

    SGRAVENMADE, EJ; VISSINK, A

    In this paper the basis of the oral features of Sjogren's syndrome is described and guidelines for proper management of these features are given. The most pronounced oral symptoms are a dry sensation in the mouth and difficulties with swallowing and speech. Furthermore, these patients do not sleep

  14. Self-Injurious Behavior in Rett Syndrome: Interactions between Features of Rett Syndrome and Operant Conditioning.

    Science.gov (United States)

    Oliver, Chris; And Others

    1993-01-01

    In this case study, interactions were examined between features of Rett syndrome and operant conditioning as determinants of self-injurious behavior (SIB). Analysis suggested different functions for two forms of SIB: automatic reinforcement by sensory stimulation and escape from social interactions. Features of Rett syndrome tended to maximize the…

  15. Neuroimaging features of Cornelia de Lange syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Whitehead, Matthew T. [Department of Radiology, Washington, DC (United States); Nagaraj, Usha D. [Department of Radiology, Washington, DC (United States); Cincinnati Children' s Hospital, Department of Radiology, Cincinnati, OH (United States); Pearl, Phillip L. [Department of Radiology, Washington, DC (United States); Boston Children' s Hospital, Department of Neurology, Boston, MA (United States)

    2015-08-15

    Cornelia de Lange syndrome is a rare genetic disease characterized by distinctive facial dysmorphia and dwarfism. Multiple organ system involvement is typical. Various central nervous system (CNS) aberrations have been described in the pathology literature; however, the spectrum of neuroimaging manifestations is less well documented. To present neuroimaging findings from a series of eight patients with Cornelia de Lange syndrome. The CT/MR database at a single academic children's hospital was searched for the terms ''Cornelia'', ''Brachmann'' and ''de Lange.'' The search yielded 18 exams from 16 patients. Two non-CNS and six exams without available images were excluded. Ten exams from eight patients were evaluated by a board-certified neuroradiologist. All patients had skull base dysplasia, most with an unusual coronal basioccipital cleft (7/8). All brain MR exams showed microcephaly, volume loss and gyral simplification (5/5). Six patients had an absent massa intermedia. Four patients had small globe anterior segments; three had optic pathway hypoplasia. Basilar artery fenestration was present in two patients; vertebrobasilar hypoplasia was present in one patient. The inner ear vestibules were dysplastic in two patients. One patient had pachymeningeal thickening. Spinal anomalies included scoliosis, segmentation anomalies, endplate irregularities, basilar invagination, foramen magnum stenosis and tethered spinal cord. Typical imaging manifestations of Cornelia de Lange syndrome include skull base dysplasia with coronal clival cleft, cerebral and brainstem volume loss, and gyral simplification. Membranous labyrinth dysplasia, anterior segment and optic pathway hypoplasia, basilar artery fenestration, absent massa intermedia and spinal anomalies may also be present. (orig.)

  16. Neuroimaging features of Cornelia de Lange syndrome

    International Nuclear Information System (INIS)

    Whitehead, Matthew T.; Nagaraj, Usha D.; Pearl, Phillip L.

    2015-01-01

    Cornelia de Lange syndrome is a rare genetic disease characterized by distinctive facial dysmorphia and dwarfism. Multiple organ system involvement is typical. Various central nervous system (CNS) aberrations have been described in the pathology literature; however, the spectrum of neuroimaging manifestations is less well documented. To present neuroimaging findings from a series of eight patients with Cornelia de Lange syndrome. The CT/MR database at a single academic children's hospital was searched for the terms ''Cornelia'', ''Brachmann'' and ''de Lange.'' The search yielded 18 exams from 16 patients. Two non-CNS and six exams without available images were excluded. Ten exams from eight patients were evaluated by a board-certified neuroradiologist. All patients had skull base dysplasia, most with an unusual coronal basioccipital cleft (7/8). All brain MR exams showed microcephaly, volume loss and gyral simplification (5/5). Six patients had an absent massa intermedia. Four patients had small globe anterior segments; three had optic pathway hypoplasia. Basilar artery fenestration was present in two patients; vertebrobasilar hypoplasia was present in one patient. The inner ear vestibules were dysplastic in two patients. One patient had pachymeningeal thickening. Spinal anomalies included scoliosis, segmentation anomalies, endplate irregularities, basilar invagination, foramen magnum stenosis and tethered spinal cord. Typical imaging manifestations of Cornelia de Lange syndrome include skull base dysplasia with coronal clival cleft, cerebral and brainstem volume loss, and gyral simplification. Membranous labyrinth dysplasia, anterior segment and optic pathway hypoplasia, basilar artery fenestration, absent massa intermedia and spinal anomalies may also be present. (orig.)

  17. Clinicopathologic, Immunohistochemical, and Molecular Features of Histiocytoid Sweet Syndrome.

    Science.gov (United States)

    Alegría-Landa, Victoria; Rodríguez-Pinilla, Socorro María; Santos-Briz, Angel; Rodríguez-Peralto, José Luis; Alegre, Victor; Cerroni, Lorenzo; Kutzner, Heinz; Requena, Luis

    2017-07-01

    Histiocytoid Sweet syndrome is a rare histopathologic variant of Sweet syndrome. The nature of the histiocytoid infiltrate has generated considerable controversy in the literature. The main goal of this study was to conduct a comprehensive overview of the immunohistochemical phenotype of the infiltrate in histiocytoid Sweet syndrome. We also analyze whether this variant of Sweet syndrome is more frequently associated with hematologic malignancies than classic Sweet syndrome. This is a retrospective case series study of the clinicopathologic, immunohistochemical, and molecular features of 33 patients with a clinicopathologic diagnosis of histiocytoid Sweet syndrome was conducted in the dermatology departments of 5 university hospitals and a private laboratory of dermatopathology. The clinical, histopathological, immunohistochemical, and follow-up features of 33 patients with histiocytoid Sweet syndrome were analyzed. In some cases, cytogenetic studies of the dermal infiltrate were also performed. We compare our findings with those of the literature. The dermal infiltrate from the 33 study patients (20 female; median age, 49 years; age range, 5-93 years; and 13 male; median age, 42 years; age range, 4-76 years) was mainly composed of myeloperoxidase-positive immature myelomonocytic cells with histiocytoid morphology. No cytogenetic anomalies were found in the infiltrate except in 1 case in which neoplastic cells of chronic myelogenous leukemia were intermingled with the cells of histiocytoid Sweet syndrome. Authentic histiocytes were also found in most cases, with a mature immunoprofile, but they appeared to be a minor component of the infiltrate. Histiocytoid Sweet syndrome was not more frequently related with hematologic malignancies than classic neutrophilic Sweet syndrome. The dermal infiltrate of cutaneous lesions of histiocytoid Sweet syndrome is composed mostly of immature cells of myeloid lineage. This infiltrate should not be interpreted as leukemia cutis.

  18. Clinical and Molecular Genetic Features of Autoinflammatory Syndromes in Children

    Directory of Open Access Journals (Sweden)

    Е. I. Alexeeva

    2015-01-01

    Full Text Available Objective: Our aim was to study the prevalence and clinical features of autoinflammatory syndromes among patients with systemic juvenile idiopathic arthritis. Methods: A prospective nonrandomized study was conducted. All its members have been studied for mutations in TNFRSF1A and NLRP3 genes by the sequencing method. Results: 90 children (27 boys, 63 girls aged from 1 to 17 (average age 8.2 years, with a guide diagnosis: «Systemic juvenile idiopathic arthritis», were examined. As a result, 10 (14% patients showed mutations in TNFRSF1A gene, leading to the development of TRAPS-syndrome (8 had the most common mutation of R92Q; 3 — not previously described mutations in NLRP3 gene. 2 patients had the diagnosis of CINCA/NOMID Syndrome, 1 — Muckle–Wells Syndrome. In three cases, mutations leading to the development of TRAPS-syndromethe were identified in the first line of descent. Classical examples of autoinflammatory syndromes such as cryopyrin-associated periodic syndrome (CAPS, and tumor necrosis factor receptor associated periodic syndrome (TRAPS. The data about their pathogenesis, clinical features, diagnosis and treatment is presented. Conclusion: It is shown that early detection and adequate treatment of patients with autoinflammatory syndromes, characterized by severe disease and serious prognosis, is difficult due to lack of awareness of pediatricians and unavailability of genetic diagnosis of these syndromes. The necessity of the development of a universal model of the diagnostic algorithm for identification of autoinflammatory syndromes using next-generation sequencing technologies is grounded. 

  19. [Myelodysplastic syndromes: pathophysiology, clinical and biological features].

    Science.gov (United States)

    Becha, Mohamed; Braham Jmili, Néjia

    2015-01-01

    Myelodysplastic syndromes (MDS) are hemopathies very common in geriatric practice. They are characterized by qualitative morphological abnormalities of one or more myeloid lineages responsible for an ineffective hematopoiesis, and therefore cytopenias of central origin contrasting with a usually rich bone marrow wealth. The MDS are asymptomatic in half of the cases and their discovery is a result of systematic blood analysis or tests to explore another disease. The evolution is marked by worsening cytopenias, and the risk of acute myeloid leukemia transformation with poor prognosis because frequently chemoresistant. The diagnosis of MDS is pronounced after a clinico-biological confrontation to discuss the differential diagnosis taking into account all clinical and cytological data, results of conventional cytogenetics and evolution after vitamin therapy. Knowledge more depth on MDS refine MDS classification criteria by developing successive classifications (FAB 1982, WHO 2001 and 2008) which aim the identification of MDS groups with clinical, biological and common prognostic. The treatment of MDS is essentially symptomatic. The development of new targeted therapeutic strategies enables high hopes in a context where treatment options are a difficult choice, because the advanced age of most patients. Finally, detailed knowledge of risk factors and prognostic scores are very useful to make the best treatment decisions.

  20. Pain syndrome features in Parkinson's disease

    Directory of Open Access Journals (Sweden)

    Bril Е.М.

    2016-12-01

    Full Text Available Pain in Parkinson disease take the special place among all of disease symptoms due to it pathogenetics and clinical diversity. In spite of the plurality of resent studies, the majority of clinical practioners and neurologists didn't pay attention to significant decline of the quality of life in patients with Parkinson disease and pain disorders. This article was created with aim to summarize all important results of studies, focused on pain pathogenesis and clinical features on different stages of disease.

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

    Science.gov (United States)

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

    2009-01-01

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

  2. Rare features associated with Mobius syndrome: Report of two cases

    Directory of Open Access Journals (Sweden)

    Rumela Ghosh

    2017-03-01

    Full Text Available Mobius syndrome is a rare congenital disorder with the preliminary diagnostic criteria of congenital facial and abducent nerve palsy. Involvement of other cranial nerves, too, is common. Prevalence rate of this syndrome is approximately 1 in 100,000 neonates. It is of unknown etiology with sporadic occurrence. However, data regarding the occurrence rate in India is limited. Features such as orofacial malformations, limb defects, and musculoskeletal, behavioral, and cognitive abnormalities might be associated. A thorough evaluation to identify the condition and establishing an adequate treatment plan is of utmost important in this condition. We are reporting clinical and radiographic features of Mobius syndrome in two cases along with unusual findings of limb and neck deformity.

  3. [Wolfram syndrome: clinical features, molecular genetics of WFS1 gene].

    Science.gov (United States)

    Tanabe, Katsuya; Matsunaga, Kimie; Hatanaka, Masayuki; Akiyama, Masaru; Tanizawa, Yukio

    2015-02-01

    Wolfram syndrome(WFS: OMIM 222300) is a rare recessive neuro-endocrine degenerative disorder, known as DIDMOAD(Diabetes Insipidus, early-onset Diabetes Mellitus, Optic Atrophy and Deafness) syndrome. Most affected individuals carry recessive mutations in the Wolfram syndrome 1 gene(WFS1). The WFS1 protein is an endoplasmic reticulum(ER) embedded protein, which functions in ER calcium homeostasis and unfolded protein responses. Dysregulation of these cellular processes results in the development of ER stress, leading to apoptosis. In addition, abundantly present WFS1 protein in insulin secretory granules plays a role in the intra-granular acidification. However, the phenotypic pleiomorphism and molecular complexity of this disease limit the understanding of WFS. Here we review clinical features, molecular mechanisms and mutations of WFS1 gene that relate to this syndrome.

  4. Chronic Fatigue Syndrome in Adolescents: treatment, clinical features and epidemiology

    NARCIS (Netherlands)

    Nijhof, S.L.

    2013-01-01

    This thesis describes the treatment, epidemiology and clinical features of the adolescent chronic fatigue syndrome (CFS). Fatigue is a common complaint among adolescents, with a reported incidence of up to 20% in girls. This fatigue however is not chronic, does not debilitate and has an identifiable

  5. Operculum syndrome: unusual feature of herpes simplex encephalitis

    NARCIS (Netherlands)

    van der Poel, J. C.; Haenggeli, C. A.; Overweg-Plandsoen, W. C.

    1995-01-01

    Herpes simplex encephalitis in adults and young patients carries a high mortality and morbidity. Its presentation may be nonspecific, sometimes hampering early diagnosis. Two young children are reported with herpes simplex encephalitis in whom the operculum syndrome was an outstanding feature. This

  6. Is hearing loss a feature of Joubert syndrome, a ciliopathy?

    NARCIS (Netherlands)

    Kroes, H.Y.; Van Zanten, B.G.A.; De Ru, S.A.; Boon, M.; Mancini, G.M.S.; van der Knaap, M.S.; Poll-The, B.; Lindhout, D.

    2010-01-01

    Objective: To assess if hearing loss is a feature of Joubert syndrome (JBS), one of the ciliopathies and therefore possibly associated with hearing loss. Design: Retrospective case series. Setting: University Children's Hospital. Patients: Dutch patients with JBS. Main outcome measures: Audiological

  7. Is hearing loss a feature of Joubert syndrome, a ciliopathy?

    NARCIS (Netherlands)

    Kroes, Hester Y.; Van Zanten, Bert G. A.; De Ru, Sander A.; Boon, Maartje; Mancini, Grazia M. S.; Van der Knaap, Marjo S.; Poll-The, Bwee Tien; Lindhout, Dick

    Objective To assess if hearing loss is a feature of Joubert syndrome (JBS). one of the ciliopathies and therefore possibly associated with hearing loss Design: Retrospective case series. Setting University Children's Hospital Patients Dutch patients with JBS. Main outcome measures Audiological data.

  8. Is hearing loss a feature of Joubert syndrome, a ciliopathy?

    NARCIS (Netherlands)

    Kroes, Hester Y.; van Zanten, Bert G. A.; de Ru, Sander A.; Boon, Maartje; Mancini, Grazia M. S.; van der Knaap, Marjo S.; Poll-The, Bwee Tien; Lindhout, Dick

    2010-01-01

    Objective To assess if hearing loss is a feature of Joubert syndrome (JBS). one of the ciliopathies and therefore possibly associated with hearing loss Design: Retrospective case series. Setting University Children's Hospital Patients Dutch patients with JBS. Main outcome measures Audiological data.

  9. [Clinical and pathological features of Alport syndrome in children].

    Science.gov (United States)

    Zhu, Chun-Hua; Huang, Song-Ming; Wu, Hong-Mei; Bao, Hua-Ying; Chen, Ying; Han, Yuan; Zhao, Fei; Zhang, Ai-Hua; Zhang, Wei-Zhen

    2010-03-01

    To study the clinical and pathological features of Alport syndrome in children. The clinical and histopathological data of 10 hospitalized children with Alport syndrome from February 2007 to February 2009 were retrospectively reviewed. There were 7 males and 3 females, with the age ranging from 2 years to 6 years and 7 months (mean 3 years and 2 months). Five of 10 cases had positive family history. X-linked dominant inheritance Alport syndrome was diagnosed in 8 cases, and autosomal recessive inheritance Alport syndrome in 2 cases. Recurrent gross hematuria was found in 5 cases, hematuria and proteinuria in 3 cases, massive proteinuria in 1 case, and nephritic syndrome in 1 case. Under the light microscope, 8 cases presented with mesangial proliferation glomerulonephritis, and 2 cases with focal segmental glomerulosclerosis. Immunofluorescence assay showed that all cases had IgM deposition in glomerulus. Only 1 case showed typical glomerular basement membrane (GBM) pathological changes. All cases showed abnormal alpha-chain distribution in renal collagen IV. The children with Alport syndrome have diverse clinical manifestations. Characteristic histopathological presentations could not be found under a light microscope, mesangial proliferation glomerulonephritis is the dominant pathological change, and IgM deposition in glomerulus is common. The GBM pathological change in children is not common. Immunofluorescence assay of alpha-chain in collagen IV is needed for the diagnosis of Alport syndrome.

  10. Seizures as an Atypical Feature of Beal’s Syndrome

    Directory of Open Access Journals (Sweden)

    Nazreen B. K. Jaman

    2016-08-01

    Full Text Available Congenital contractural arachnodactyly, commonly known as Beal’s syndrome, is an extremely rare genetic disorder caused by mutations in the fibrillin-2 (FBN2 gene located on chromosome 5q23. It is an autosomal dominant inherited connective tissue disorder characterised by a Marfan-like body habitus, contractures, abnormally shaped ears and kyphoscoliosis. We report a seven-year-old Omani male who presented to the Sultan Qaboos University Hospital, Muscat, Oman, in 2014 with seizures. He was noted to have certain distinctive facial features and musculoskeletal manifestations; he was subsequently diagnosed with Beal’s syndrome. Sequencing of the FBN2 gene revealed that the patient had a novel mutation which was also present in his mother; however, she had only a few facial features indicative of Beal’s syndrome and no systemic involvement apart from a history of childhood seizures. To the best of the authors’ knowledge, this is the first report of Beal’s syndrome with seizure symptoms as a potential feature.

  11. Blepharocheilodontic (BCD) syndrome: New insights on craniofacial and dental features.

    Science.gov (United States)

    Awadh, Wael; Kiukkonen, Anu; Nieminen, Pekka; Arte, Sirpa; Hurmerinta, Kirsti; Rice, David P

    2017-04-01

    Blepharocheilodontic (BCD) syndrome is a rare condition characterized by bilateral cleft lip and palate (BCLP), eyelid abnormalities, and oligodontia. Despite orofacial clefting and oligodontia being central features of the condition, detailed reports of dental and craniofacial characteristics are scarce. The aim of this study was to analyze the dental and craniofacial features in a group of patients with BCD syndrome (three of which were related). Cephalometric radiographic analyses were performed on BCD syndrome patients (all radiographs taken at age 8 years) and compared to 40 randomly selected age-matched controls (20 non-syndromic BCLP, 20 non-cleft). Also, we assessed clinical records, photographs, dental study casts, and dental radiographs to determine the extent and pattern of tooth agenesis, dental morphology and malocclusion. BCD syndrome patients showed a very severe skeletal III malocclusion (maxillary-mandibular sagittal discrepancy) and reduced anterior lower face measurement compared to non-syndromic BCLP and non-cleft controls (P = 0.001, P = 0.027). All patients exhibited oligodontia (mean number of missing permanent teeth 13.7, range 7-17). All patients exhibited missing upper central and lateral incisor, upper canine and premolar teeth. Variations in dental morphology included taurodontism, conical-shaped teeth, and notching of the incisal edges. All patients had a short and narrow maxilla which translated into anterior and posterior cross bites. We conclude that, in our BCD syndrome group, the craniofacial skeletal defects are more severe than patients with BCLP. The pattern of tooth agenesis is unusual as it included teeth that are normally highly resistant to agenesis, namely upper central incisor and canine teeth. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

  12. Sports-related dentofacial trauma among high school students in ...

    African Journals Online (AJOL)

    Objectives: To determine the prevalence and pattern of occurrence of sports - related dentofacial injuries among athletes participating in Rugby and Football in Nairobi, Kenya. Design: A descriptive cross-sectional study. Setting: Seventeen Secondary schools participating in either or both Rugby tournaments and the ...

  13. Dentofacial injuries in commercial motorcycle accidents in Cameroon

    African Journals Online (AJOL)

    Objective: To assess the pattern of dentofacial injuries in commercial motorcycle accidents among riders and passengers in Cameroon. Materials and Methods: This was a hospital based study conducted in 6 out of 10 regional capitals in the months of December 2011 to September 2012. Analyzed information included age, ...

  14. Radiological features of Lemierre's syndrome: A case report

    International Nuclear Information System (INIS)

    Tapia-Vine, M. M.; Gonzalez-Garcia, B.; Bustos, A.; Cabello, J.

    2001-01-01

    Lemierre's syndrome is a type of sepsis caused by anaerobes that is secondary to a pharyngotonsillar infection complicated by suppurative thrombophlebitis of ipsilateral jugular vein and septic emboli. Imaging studies are valuable tools for confirming the diagnosis. Chest x-ray reveals poorly defined cavitated, peripheral, nodular lesions. computed tomography (CT) is useful in confirming the pulmonary lesions, which are suggestive of septic emboli. Doppler ultrasound of the neck plays and indispensable role in demonstrating the internal jugular vein thrombosis. We report the case of patient who presented the characteristic clinical and radiological features of Lemierre's syndrome. (Author) 17 refs

  15. Mouthguard use may reduce dentofacial injuries in field hockey players.

    Science.gov (United States)

    Afrashtehfar, Kelvin I; Chung, Jason

    2017-06-23

    Data sourcesPubMed, Embase, OvidSP, Web of Science, Cochrane and CINAHL databases were searched up to February 2015 with no language restrictions.Study selectionTwo review authors independently assessed tiles and abstracts of the retrieved case-control, cohorts and cross-sectional studies. For the studies to have been included in the meta-analysis, they must have included the total number of hockey players reporting at least one dentofacial injury, the total number of these injuries compared with other types of injuries and quantitative data on characteristics of dentofacial injuries. Recreational and competitive elite level were included.Data extraction and synthesisThe included studies fell into three categories, related to dentofacial injury, mouthguard use or both, and their quality was assessed using the Newcastle-Ottawa Scale (NOS). A random effects model was used to calculate the overall effect size when appropriate; if not, then pooled prevalence was reported. Binary variables were used in order to express the results as Mantel-Haenszel pooled prevalence odds ratios (OR) with 95% confidence intervals (CI) and a p-value of the overall effect. To compare the between-studies differences, a χ 2 test was used. The heterogeneity across the studies was evaluated using the I 2 .ResultsEleven studies were included: six related to dentofacial injury, one related to mouthguard use and four to both. The numbers of field hockey players who presented at least one dentofacial injury was 12.7% (95% CI 8.5% to 17.0%) and 45.2% (95% CI 39.3% to 51.0%) in junior/senior players and elite players, respectively. There were no significant differences with respect to sex. After 2000, 84.5% (95% CI 69.3% to 99.7%) of players regularly wore mouthguards, whereas only 31.4% (95% CI 22.7% to 40.1%) wore mouthguards previous to 2000. The mouthguards were commonly depicted as unnecessary and uncomfortable by players.ConclusionsDentofacial trauma poses a serious problem in field hockey

  16. Multimodal Ultrawide-Field Imaging Features in Waardenburg Syndrome.

    Science.gov (United States)

    Choudhry, Netan; Rao, Rajesh C

    2015-06-01

    A 45-year-old woman was referred for bilateral irregular fundus pigmentation. Dilated fundus examination revealed irregular hypopigmentation posterior to the equator in both eyes, confirmed by fundus autofluorescence. A thickened choroid was seen on enhanced-depth imaging spectral-domain optical coherence tomography (EDI SD-OCT). Systemic evaluation revealed sensorineural deafness, telecanthus, and a white forelock. Further investigation revealed a first-degree relative with Waardenburg syndrome. Waardenburg syndrome is characterized by a group of features including telecanthus, a broad nasal root, synophrys of the eyebrows, piedbaldism, heterochromia irides, and deafness. Choroidal hypopigmentation is a unique feature that can be visualized with ultrawide-field fundus autofluorescence. The choroid may also be thickened and its thickness measured with EDI SD-OCT. Copyright 2015, SLACK Incorporated.

  17. A newborn with overlapping features of AEC and EEC syndromes

    NARCIS (Netherlands)

    Celik, T.H.; Buyukcam, A.; Simsek-Kiper, P.O.; Utine, G.E.; Ersoy-Evans, S.; Korkmaz, A.; Yntema, H.G.; Bodugroglu, K.; Yurdakok, M.

    2011-01-01

    Ectrodactyly, ectodermal dysplasia, clefting (EEC) syndrome is the prototype of several p63 conditions, which include ankyloblepharon, ectodermal dysplasia, clefting (AEC) syndrome, limb-mammary syndrome (LMS), Rapp-Hodgkin syndrome (RHS), ADULT syndrome, and others. All these disorders include

  18. Self-injurious behavior in Rett syndrome: interactions between features of Rett syndrome and operant conditioning.

    Science.gov (United States)

    Oliver, C; Murphy, G; Crayton, L; Corbett, J

    1993-03-01

    Operant and biological theories of the cause of self-injurious behavior (SIB) in people with a mental handicap are often viewed as mutually exclusive. In this single case study, interactions between features of Rett syndrome and operant conditioning as determinants of SIB are examined. Functional analysis by analog methodology indicated different functions for two forms of SIB shown by the subject: automatic reinforcement by sensory stimulation and escape from social interactions. It is suggested that features of Rett syndrome established conditions under which operant conditioning of self-injurious responding was maximized. The implications of this interaction between features of syndromes and operant conditioning for the conceptualization of the cause of SIB are discussed and it is proposed that the notion of a unitary cause of SIB is inappropriate. It is more productive to consider operant conditioning as the process that maintains responding against a background of predisposing and mediating factors which may be biologically determined.

  19. Features of Turner syndrome among a group of Cameroonian patients.

    Science.gov (United States)

    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.

  20. Townes-Brocks syndrome with overlapping features of hemifacial microsomia

    Directory of Open Access Journals (Sweden)

    Yadavalli Guruprasad

    2013-01-01

    Full Text Available Townes-Brocks syndrome (TBS is an autosomal dominant disorder with multiple malformations and variable expression. Major findings include external ear anomalies, hearing loss, limb deformity, imperforate anus, and renal malformations. Intelligence is usually normal, although mild moderate mental retardation has been reported. It can be difficult to differentiate clinically between hemifacial microsomia (HFM and Townes-Brocks syndrome (TBS. The distinction is important because TBS is inherited as an autosomal dominant trait, whereas HFM is sporadic. We report a classical case of TBS with overlapping features of hemifacial microsomia in an 11 year old boy who presented with unilateral anotia with hearing defect, renal agenesis and imperforate anus by birth.

  1. Clinical Features of Miller-Fisher Syndrome in Pregnancy

    Directory of Open Access Journals (Sweden)

    Masanori Ono

    2015-01-01

    Full Text Available Miller-Fisher syndrome (MFS is recognized as a variant of Guillain-Barré syndrome (GBS. MFS is a rare disorder that is characterized by the acute onset of ophthalmoplegia, ataxia, and areflexia/hyporeflexia. MFS has a higher incidence in Asia, where the incidence is estimated to be 18%–26% of GBS compared with 3%–5% in the West. The differential diagnosis of MFS includes Wernicke’s encephalopathy (WE which is characterized by a clinical triad (nystagmus and ophthalmoplegia, mental status changes, and ataxia, myasthenia gravis, and brainstem stroke. The association between MFS and pregnancy has not been reported previously. Here, we describe the clinical features of a pregnant woman in early pregnancy with MFS. This case highlights the fact that it is necessary to establish an accurate diagnosis based on the details from the patient’s history on appropriate complementary testing in a pregnant patient with MFS.

  2. Surgical-orthodontic correction of a Class III dentofacial deformity

    Directory of Open Access Journals (Sweden)

    Raghu Devanna

    2010-01-01

    Full Text Available This case report describes the surgical-orthodontic treatment of a 26-year-old post-pubertal male patient with a Class III dentofacial deformity. In the pre-surgical orthodontic phase of treatment, a reverse overjet of 5.5 mm was created and arch compatibility was obtained. A mandibualr set back with BSSO was performed during surgery to restore ideal overjet, overbite, occlusion and optimal esthetics. After 1 year of treatment, the results remained stable.

  3. Pulmonary embolism as the primary presenting feature of nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    Pallavi Periwal

    2016-01-01

    Full Text Available A 36-year-old previously healthy male presented with subacute onset of shortness of breath and chest pain. He was diagnosed with bilateral extensive pulmonary embolism (PE. In the absence of any predisposing factors, an extensive workup for unprovoked thrombophilia was done. During the course of his illness, the patient developed anasarca and was diagnosed to be suffering from nephrotic syndrome (NS, secondary to membranous glomerulopathy. Although, thrombotic complications are commonly associated with NS, it is unusual for PE to be the primary presenting feature in these patients.

  4. Overlapping Clinical Features Between NAFLD and Metabolic Syndrome in Children

    Directory of Open Access Journals (Sweden)

    Anna Alisi

    2014-05-01

    Full Text Available Non-alcoholic fatty liver disease (NAFLD is a cluster of pathological liver conditions of emerging importance in overweight and obese children. NAFLD is associated with central obesity, insulin resistance, and dyslipidaemia, which are considered to be the main features of metabolic syndrome (MetS. Prevention of the adverse outcomes of NAFLD, as well as the risk of MetS, depends on the identification of genetic background and environmental factors that modulate susceptibility to these diseases. However, several lines of evidence highlight the strong correlation and co-currency of these two chronic diseases, both in children and in adults. In the present review, we provide an overview of the current clinical proofs on the link between NAFLD and MetS in children, with particular focus on all the possible overlapping features that connect them at paediatric age.

  5. Proteus syndrome review: molecular, clinical, and pathologic features.

    Science.gov (United States)

    Cohen, M Michael

    2014-02-01

    Proteus syndrome is caused by an activating AKT1 mutation (c.49G>A, p.Glu17Lys). Many variable features are possible in this mosaic disorder, including: (i) disproportionate, asymmetric, and distorting overgrowth; (ii) bone abnormalities different from those observed in other disorders; (iii) a characteristic cerebriform connective tissue nevus made up of highly collagenized connective tissue; (iv) epidermal nevi in early life, consisting of acanthosis and hyperkeratosis; (v) vascular malformations of the capillary, venous, or lymphatic types; (vi) dysregulated adipose tissue including lipomas, lipohypoplasia, fatty overgrowth, and localized fat deposits; (vii) other unusual features, including bullous lung alterations; specific neoplasms; a facial phenotype associated with intellectual disability and/or seizures, and/or brain malformations; and (viii) deep vein thrombosis, resulting in premature death. Concluding remarks address diagnostic criteria, natural history, management, psychosocial issues, and differential diagnosis. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  6. Walker-Warburg Syndrome: A Case with multiple uncommon features.

    Science.gov (United States)

    Bedri, Hibba A; Mustafa, Babiker M; Jadallah, Yosif M

    2011-01-01

    Walker-Warburg syndrome (WWS) is a rare and lethal autosomal recessive disorder, caused by defective glycosylation of α-dystroglycan that is important for muscle integrity and neuronal migration. Mutations in six genes involved in the glycosylation of α-dystroglycan (POMT1, POMT2, POMGNT1, FCMD, FKRP and LARGE) have been identified in WWS patients, and others remain under study. Prenatal diagnosis may be possible by means of prenatal ultrasonography, or magnetic resonance imaging. We report a patient demonstrating the typical clinical features of lissencephaly, congenital muscular dystrophy and ocular abnormalities, in addition to other features including hydrocephalus, occipital encephalocele, agenesis of the corpus collosum, microphthalmia, ventricular septal defect, and rocker bottom feet deformity.

  7. Angelman Syndrome: Mutations Influence Features in Early Childhood

    Science.gov (United States)

    Tan, Wen-Hann; Bacino, Carlos A.; Skinner, Steven A.; Anselm, Irina; Barbieri-Welge, Rene; Bauer-Carlin, Astrid; Beaudet, Arthur L.; Bichell, Terry Jo; Gentile, Jennifer K.; Glaze, Daniel G.; Horowitz, Lucia T.; Kothare, Sanjeev V.; Lee, Hye-Seung; Nespeca, Mark P.; Peters, Sarika U.; Sahoo, Trilochan; Sarco, Dean; Waisbren, Susan E.; Bird, Lynne M.

    2012-01-01

    Angelman syndrome (AS) is a neurodevelopmental disorder caused by a lack of expression of the maternal copy of UBE3A. Although the “classic” features of AS are well described, few large-scale studies have delineated the clinical features in AS. We present baseline data from 92 children with a molecular diagnosis of AS between 5 and 60 months old who are enrolled in the National Institutes of Health Rare Diseases Clinical Research Network Angelman Syndrome Natural History Study from January 2006 to March 2008. Seventy-four percent of participants had deletions, 14% had either uniparental disomy (UPD) or imprinting defects, and 12% had UBE3A mutations. Participants with UPD/imprinting defects were heavier (P = 0.0002), while those with deletions were lighter, than the general population (P < 0.0001). Twenty out of 92 participants were underweight, all of whom had deletions or UBE3A mutations. Eight out of 92 participants (6/13 (46%) with UPD/imprinting defects and 2/11 (18%) with UBE3A mutations) were obese. Seventy-four out of 92 participants (80%) had absolute or relative microcephaly. No participant was macrocephalic. The most common behavioral findings were mouthing behavior (95%), short attention span (92%), ataxic or broad-based gait (88%), history of sleep difficulties (80%), and fascination with water (75%). Frequent, easily provoked laughter was observed in 60%. Clinical seizures were reported in 65% of participants but all electroencephalograms (EEGs) were abnormal. We conclude that the most characteristic feature of AS is the neurobehavioral phenotype, but specific EEG findings are highly sensitive for AS. Obesity is common among those with UPD/imprinting defects. PMID:21204213

  8. Nance-Horan Syndrome: A Rare Case Report.

    Science.gov (United States)

    Sharma, Shambhu; Datta, Pankaj; Sabharwal, Janak Raj; Datta, Sonia

    2017-01-01

    Dentofacial anomalies may guide us to the diagnosis of many congenital and hereditary syndromes. A 9-year-old boy was diagnosed with Nance-Horan syndrome. This syndrome is an extremely rare X-linked genetic disorder which is entirely expressed in males with semi-dominant transmission which results from mutations occurring in male gametes. It is characterized by facial dysmorphism such as long face, prominent nose and mandibular prognathism, ocular abnormalities such as congenital cataract, microcornea, microphthalmia and strabismus, and dental anomalies including mulberry molars and screwdriver-shaped incisors. Heterozygous females inherit this disease and also suffer from this syndrome but in a milder form. Approximately one-third of the affected males show signs of developmental delay and intellectual abnormalities. This syndrome is very rare and the incidence of the disease has not been established so far. The present article describes the clinical and radiological features and the genetic implications of this syndrome.

  9. Nance–Horan syndrome: A rare case report

    Directory of Open Access Journals (Sweden)

    Shambhu Sharma

    2017-01-01

    Full Text Available Dentofacial anomalies may guide us to the diagnosis of many congenital and hereditary syndromes. A 9-year-old boy was diagnosed with Nance–Horan syndrome. This syndrome is an extremely rare X-linked genetic disorder which is entirely expressed in males with semi-dominant transmission which results from mutations occurring in male gametes. It is characterized by facial dysmorphism such as long face, prominent nose and mandibular prognathism, ocular abnormalities such as congenital cataract, microcornea, microphthalmia and strabismus, and dental anomalies including mulberry molars and screwdriver-shaped incisors. Heterozygous females inherit this disease and also suffer from this syndrome but in a milder form. Approximately one-third of the affected males show signs of developmental delay and intellectual abnormalities. This syndrome is very rare and the incidence of the disease has not been established so far. The present article describes the clinical and radiological features and the genetic implications of this syndrome.

  10. The epidemiology, treatment, and complication of dentofacial deformities in an Indonesian population: A 21-year analysis

    NARCIS (Netherlands)

    Ruslin, M.; Forouzanfar, T.; Astuti, I.A.; Tuinzing, D.B.

    2015-01-01

    Objective: The aim of the present study was to investigate the prevalence, treatment, and complication of patients with dentofacial deformities in an Indonesian cohort. Materials and methods: Study cohorts included 86 patients who were treated for dentofacial deformities with orthognathic surgery

  11. Adenotonsillar hypertrophy as a risk factor of dentofacial abnormality in Korean children.

    Science.gov (United States)

    Kim, Dong-Kyu; Rhee, Chae Seo; Yun, Pil-Young; Kim, Jeong-Whun

    2015-11-01

    No studies for the role of adenotonsillar hypertrophy in development of dentofacial abnormalities have been performed in Asian pediatric population. Thus, we aimed to investigate the relationship between adenotonsillar hypertrophy and dentofacial abnormalities in Korean children. The present study included consecutive children who visited a pediatric clinic for sleep-disordered breathing due to habitual mouth breathing, snoring or sleep apnea. Their palatine tonsils and adenoids were graded by oropharyngeal endoscopy and lateral cephalometry. Anterior open bite, posterior crossbite, and Angle's class malocclusions were evaluated for dentofacial abnormality. The receiver-operating characteristic curve analysis was used to identify age cutoffs to predict dentofacial abnormality. A total of 1,083 children were included. The presence of adenotonsillar hypertrophy was significantly correlated with the prevalence of dentofacial abnormality [adjusted odds ratio = 4.587, 95% CI (2.747-7.658)] after adjusting age, sex, body mass index, allergy, and Korean version of obstructive sleep apnea-18 score. The cutoff age associated with dentofacial abnormality was 5.5 years (sensitivity = 75.5%, specificity = 67%) in the children with adenotonsillar hypertrophy and 6.5 years (sensitivity = 70.6%, specificity = 57%) in those without adenotonsillar hypertrophy. In conclusion, adenotonsillar hypertrophy may be a risk factor for dentofacial abnormalities in Korean children and early surgical intervention could be considered with regards to dentofacial abnormality.

  12. Features that exacerbate fatigue severity in joint hypermobility syndrome/Ehlers-Danlos syndrome - hypermobility type.

    Science.gov (United States)

    Krahe, Anne Maree; Adams, Roger David; Nicholson, Leslie Lorenda

    2017-05-09

    To assess the prevalence, severity and impact of fatigue on individuals with joint hypermobility syndrome (JHS)/Ehlers-Danlos syndrome - hypermobility type (EDS-HT) and establish potential determinants of fatigue severity in this population. Questionnaires on symptoms and signs related to fatigue, quality of life, mental health, physical activity participation and sleep quality were completed by people with JHS/EDS-HT recruited through two social media sites. Multiple regression analysis was performed to identify predictors of fatigue in this population. Significant fatigue was reported by 79.5% of the 117 participants. Multiple regression analysis identified five predictors of fatigue severity, four being potentially modifiable, accounting for 52.3% of the variance in reported fatigue scores. Predictors of fatigue severity were: the self-perceived extent of joint hypermobility, orthostatic dizziness related to heat and exercise, levels of participation in personal relationships and community, current levels of physical activity and dissatisfaction with the diagnostic process and management options provided for their condition. Fatigue is a significant symptom associated with JHS/EDS-HT. Assessment of individuals with this condition should include measures of fatigue severity to enable targeted management of potentially modifiable factors associated with fatigue severity. Implications for rehabilitation Fatigue is a significant symptom reported by individuals affected by joint hypermobility syndrome/Ehlers-Danlos syndrome - hypermobility type. Potentially modifiable features that contribute to fatigue severity in this population have been identified. Targeted management of these features may decrease the severity and impact of fatigue in joint hypermobility syndrome/Ehlers-Danlos syndrome - hypermobility type.

  13. Computed tomographic features of afferent loop syndrome: pictorial essay

    Energy Technology Data Exchange (ETDEWEB)

    Zissin, R. [Tel-Aviv Univ., Dept. of Diagnostic Imaging, Sapir Medical Center, Kfar Saba, Sackler Faculty of Medicine, Tel Aviv (Israel); Hertz, M. [Tel-Aviv Univ., Dept. of Diagnostic Imaging, Chaim Sheba Medical Center, Tel Hashomer, Tel Aviv (Israel); Paran, H. [Tel-Aviv Univ., Dept. of Diagnostic Imaging, Surgery ' A' , Sapir Medical Center, Kfar Saba, Sackler Faculty of Medicine, Tel Aviv (Israel); Osadchy, A. [Tel-Aviv Univ., Dept. of Diagnostic Imaging, Sapir Medical Center, Kfar Saba, Sackler Faculty of Medicine, Tel Aviv (Israel); Gayer, G. [Tel-Aviv Univ., Dept. of Diagnostic Imaging, Assaf Harofe Medical Center, Zrifin, Sackler Faculty of Medicine, Tel Aviv (Israel)

    2005-04-15

    This pictorial essay reviews the computed tomography (CT) findings of afferent loop syndrome (ALS) in various pathological conditions to demonstrate the contribution of a common imaging modality-that is, abdominal CT, used nowadays for various abdominal complaints-to the diagnosis of ALS. ALS is caused by obstruction of the duodenum and jejunum proximal to a gastrojejunostomy anastomosis. It is a rare complication after Billroth II subtotal gastrectomy and even more rare after total or subtotal gastrectomy with Roux-en-Y reconstruction. Although currently advanced medical treatment and endoscopic interventions have dramatically decreased the necessity of surgery for peptic ulcer disease, ALS may appear years after previously common operations. Alternatively, the use of surgical resection for early gastric cancer nowadays leads to an increasing rate of malignancy-related ALS. Clinically, ALS may be difficult to diagnose as its presentation may be vague and nonspecific, but it has a characteristic appearance on CT. Clinicians and radiologists should therefore be familiar with this rare complication. Prompt recognition and correct diagnosis of this syndrome and its probable etiology are important as a guide for treatment. This review illustrates the CT features of ALS in various conditions. (author)

  14. Birt-Hogg-Dube syndrome: clinicopathological features of the lung.

    Science.gov (United States)

    Furuya, Mitsuko; Nakatani, Yukio

    2013-03-01

    Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant inherited disorder characterised by fibrofolliculomas, renal tumours, pulmonary cysts and pneumothorax. The pulmonary cysts and repeated episodes of pneumothorax are the clinical hallmarks for discovering families affected by the syndrome. This disorder is caused by mutations in the gene coding for folliculin (FLCN). FLCN forms a complex with FLCN-interacting protein 1 (FNIP1) and FNIP2 (also known as FNIPL), and the complex cross-talks with signalling molecules such as 5'-AMP-activated protein kinase (AMPK) and the mammalian target of rapamycin (mTOR). Heterozygous Flcn knockout mice and rats with Flcn gene mutations develop renal cysts, adenomas and/or carcinomas. These findings suggest that FLCN functions as a tumour suppressor that inhibits renal carcinogenesis. However, the mechanisms of the formation of pulmonary cysts and pneumothorax associated with heterozygous mutations in FLCN are poorly understood. Resected lung specimens from patients with BHD are often misdiagnosed by pathologists as non-specific blebs or bullae or emphysema, and patients with BHD who have pulmonary cysts and repeated pneumothorax frequently do not receive appropriate medical investigations. This review discusses the clinical and pathological features of lungs of patients with BHD, focusing on the diagnostic pathology and possible mechanisms of cyst formation.

  15. Prenatal features of Costello syndrome: Ultrasonographic findings and atrial tachycardia

    Science.gov (United States)

    Lin, Angela E.; O’Brien, Barbara; Demmer, Laurie A.; Almeda, Kristina K.; Blanco, Cynthia L.; Glasow, Patrick F.; Berul, Charles I.; Hamilton, Robert; Innes, A. Micheil; Lauzon, Julie L.; Sol-Church, Katia; Gripp, Karen W.

    2015-01-01

    Objective Delineate prenatal features of Costello syndrome (caused by HRAS mutations) which consists of mental retardation, facial, cardiovascular, skin, and musculoskeletal anomalies, and tumor predisposition. Methods Literature and new cases classified as Group I (pre-HRAS), Group II (HRAS confirmed), and Group III (HRAS confirmed in natural history study, plus three contributed cases). Results Polyhydramnios occurred in most (mean 79%) pregnancies of cases in Groups I (98), II (107), and III (17), advanced paternal age and prematurity were noted in approximately half. Less frequent were nuchal thickening, ascites, shortened long bones, abnormal hand posture, ventriculomegaly, macrosomia, and macrocephaly. Fetal arrhythmia occurred in 9 cases (6 supraventricular or unspecified tachycardia, 1 unspecified arrhythmia, 2 premature atrial contractions, PACs); excluding 3 new cases and 2 with PACs, the estimated prenatal frequency is 4/222 (2%). Conclusion Costello syndrome can be suspected prenatally when polyhydramnios is accompanied by nuchal thickening, hydrops, shortened long bones, abnormal hand posture, ventriculomegaly, large size, and macrocephaly, and especially fetal atrial tachycardia. Consideration should be given for timely prenatal diagnostic studies for confirmative HRAS gene mutations, and for maternal treatment of serious fetal arrhythmia. PMID:19382114

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

    Science.gov (United States)

    Paradowska-Stolarz, Anna M

    2014-01-01

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

  17. Conventional and molecular cytogenetic features of myelodysplastic syndrome in China.

    Science.gov (United States)

    Chen, L- J; Li, J- Y; Zhu, Y; Qiu, H- R; Pan, J- L; Wang, R; Qian, S- X; Xu, W; Xue, Y- Q

    2007-12-01

    Myelodysplastic syndrome (MDS) constitutes a heterogeneous group of hematopoietic stem cell disorder characterized by peripheral blood cytopenia(s), in the presence of hypercellular bone marrow with features of ineffective hematopoiesis, and susceptibility to acute leukemia (AL). Although the precise pathogenesis of MDS remains to be clarified, cytogenetic abnormalities seem to be involved in its pathogenesis and are considered as an important factor in diagnosis and predicting clinical outcome. To explore the cytogenetic features of Chinese patients with myelodysplastic syndrome (MDS). Conventional cytogenetic analysis was performed in 88 MDS patients and among them, 34 cases were studied by interphase fluorescence in situ hybridization (I-FISH) with precisely chromosome 8 centromere specific DNA probe and DNA specific probes for 7q32 , 5q31. Of the 88 patients, 45 (51.1%) showed clonal karyotypic abnormalities by CC at diagnosis, including numerical changes (18 cases, 20.5%), structural changes (12 cases, 13.6%), and numerical and structural changes simultaneously(15 cases, 17.0%). Trisomy 8, -5/5q-, and -7/ 7q- account for 20.5%, 15.9%, and 5.7% respectively. Complex karyotypes were observed in 17 patients, the incidence being 19.3% in the whole series of cases. Among 34 MDS patients studied by I-FISH, -5/5q-, -7/7q- and trisomy 8 occurring in 4, 2 and 10 cases respectively for CC were confirmed by I-FISH. 5 cases in 30 cases who did not show -5/5q- by CC displayed this abnormality by I-FISH. 3 cases without -7/7q- by CC presented this aberration by I-FISH. 5 cases with trisomy 8 for I-FISH was not identified this change by CC. The frequent abnormalities are trisomy 8, -5/5q- and -7/ 7q-. FISH is very useful in detecting these alterations in MDS and it is an important complement to CC.

  18. Common dental features and craniofacial development of three siblings with Ter Haar syndrome.

    Science.gov (United States)

    Parker, K; Pabla, R; Hay, N; Ayliffe, P

    2014-02-01

    Ter Haar syndrome is a rare genetic syndrome with <30 cases reported worldwide. There is nothing within the published literature regarding the dental development and dental features of these patients. This case series examines three patients with Ter Haar syndrome and tracks their dental development and identifies common dental and skeletal features. All three patients received dental treatment and regular follow-up at Great Ormond Street Hospital Dental Department. These patients have many common dental and craniofacial features which poses the question as to whether these features are due to Ter Haar syndrome.

  19. [Clinical features and comorbidities of Asperger syndrome in children].

    Science.gov (United States)

    Fu, Xiao-Yan; Xie, Xiao-Tian; Mei, Zhu; Cheng, Wen-Hong

    2013-09-01

    To investigate and summarize the clinical features and comorbidities of Asperger syndrome (AS) in children and to provide a theoretical basis for improving the understanding and diagnosis of AS. Inquiry of medical history, physical examination, behavioral observation, psychiatric examination, questionnaire survey, and the Wechsler Intelligence Scale were used to summarize and analyse the clinical data of 95 children with AS, including chief complaint, symptoms, perinatal and familial conditions, family genetic history, and common comorbidities. AS was more common in male children, with hyperactivity, inattention, and social withdrawal as frequent chief complaints. The main clinical manifestations included poor communication skills (95%), restricted interest (82%), repetitive and stereotyped patterns of behavior (77%), semantic comprehension deficit (74%), and indiscipline (68%). Verbal IQ was higher than performance IQ in most patients. The comorbidities of AS included attention deficit hyperactivity disorder (ADHD) (39%), emotional disorder (18%), and schizophrenia (2%); emotional disorder was more common in patients aged 13-16 years, while ADHD was more common in patients aged 7-16 years. Among these patients, 61% had fathers with introverted personality, 43% had mothers with introverted personality, and 19% had a family history of mental illness. AS has specific clinical manifestations. It is essential to know more about the clinical features and comorbidities of AS, which is helpful for early identification and diagnosis of AS.

  20. Genetic features of Lynch syndrome in the Israeli population.

    Science.gov (United States)

    Goldberg, Y; Barnes-Kedar, I; Lerer, I; Halpern, N; Plesser, M; Hubert, A; Kadouri, L; Goldshmidt, H; Solar, I; Strul, H; Rosner, G; Baris, H N; Peretz, T; Levi, Z; Kariv, R

    2015-06-01

    Diagnosis of Lynch syndrome (LS) may be complex. Knowledge of mutation spectrum and founder mutations in specific populations facilitates the diagnostic process. Aim of the study is to describe genetic features of LS in the Israeli population and report novel and founder mutations. Patients were studied at high-risk clinics. Diagnostics followed a multi-step process, including tumor testing, gene analysis and testing for founder mutations. LS was defined by positive mutation testing. We diagnosed LS in 242 subjects from 113 families coming from different ethnicities. We identified 54 different mutations; 13 of them are novel. Sixty-seven (59%) families had mutations in MSH2, 20 (18%) in MSH6, 19 (17%) in MLH1 and 7 (6%) in PMS2; 27% of the MSH2 mutations were large deletions. Seven founder mutations were detected in 61/113 (54%) families. Constitutional mismatch repair deficiency (CMMR-D) was identified in five families. Gene distribution in the Israeli population is unique, with relatively high incidence of mutations in MSH2 and MSH6. The mutation spectrum is wide; however, 54% of cases are caused by one of seven founder mutations. CMMR-D occurs in the context of founder mutations and consanguinity. These features should guide the diagnostic process, risk estimation, and genetic counseling. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

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

    Science.gov (United States)

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

    2014-01-01

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

  2. Speech-feature discrimination in children with Asperger syndrome as determined with the multi-feature mismatch negativity paradigm.

    Science.gov (United States)

    Kujala, T; Kuuluvainen, S; Saalasti, S; Jansson-Verkasalo, E; von Wendt, L; Lepistö, T

    2010-09-01

    Asperger syndrome, belonging to the autistic spectrum of disorders, involves deficits in social interaction and prosodic use of language but normal development of formal language abilities. Auditory processing involves both hyper- and hypoactive reactivity to acoustic changes. Responses composed of mismatch negativity (MMN) and obligatory components were recorded for five types of deviations in syllables (vowel, vowel duration, consonant, syllable frequency, syllable intensity) with the multi-feature paradigm from 8-12-year old children with Asperger syndrome. Children with Asperger syndrome had larger MMNs for intensity and smaller MMNs for frequency changes than typically developing children, whereas no MMN group differences were found for the other deviant stimuli. Furthermore, children with Asperger syndrome performed more poorly than controls in Comprehension of Instructions subtest of a language test battery. Cortical speech-sound discrimination is aberrant in children with Asperger syndrome. This is evident both as hypersensitive and depressed neural reactions to speech-sound changes, and is associated with features (frequency, intensity) which are relevant for prosodic processing. The multi-feature MMN paradigm, which includes variation and thereby resembles natural speech hearing circumstances, suggests abnormal pattern of speech discrimination in Asperger syndrome, including both hypo- and hypersensitive responses for speech features. 2010 International Federation of Clinical Neurophysiology. Published by Elsevier Ireland Ltd. All rights reserved.

  3. Clinical features and differential diagnosis of flail arm syndrome.

    Science.gov (United States)

    Hübers, Annemarie; Hildebrandt, Viviane; Petri, Susanne; Kollewe, Katja; Hermann, Andreas; Storch, Alexander; Hanisch, Frank; Zierz, Stephan; Rosenbohm, Angela; Ludolph, Albert C; Dorst, Johannes

    2016-02-01

    Flail arm syndrome (FAS) is a variant of motor neuron disease which is characterized by progressive, predominantly proximal weakness and atrophy of the upper limbs (UL). Because of its heterogeneous presentation and its relatively slow progression, differential diagnosis may be difficult particularly in the early stages of the disease. The aim of this study was to investigate typical clinical features of FAS with special regard to initial symptoms and differences to classical Charcot type amyotrophic lateral sclerosis (ALS). We retrospectively evaluated the clinical features of 42 FAS patients who were seen in the outpatient clinics of 4 German centers between 2000 and 2010 and compared them to 146 sex-matched control patients with classical spinal-onset ALS. FAS patients were younger (54.7 ± 9.3 versus 59.4 ± 12.2 years), male patients were predominantly affected (3.8:1 versus 1.9:1), and FAS patients showed a prolonged survival (53 versus 33 months) compared to classical ALS patients. The share of patients with initial misdiagnoses was 54.8% and led to ineffective therapy with immunoglobulins in 26%. Initial symptoms were most frequently present either in distal muscles only or in both proximal and distal muscle groups combined (76%) and showed an asymmetric distribution pattern in the majority of cases (76%). Although all patients developed symmetric and predominantly proximal UL weakness and atrophy during the course of their disease, we found that most patients initially showed asymmetric and predominantly distal distribution of symptoms. This may contribute to difficulties in differential diagnosis and to ineffective treatment regimes.

  4. Cowden Syndrome Presenting as Breast Cancer: Imaging and Clinical Features

    Energy Technology Data Exchange (ETDEWEB)

    Seo, Mirinae [Dept. of Radiology, Graduate School of Medicine, Kyung Hee University, Seoul (Korea, Republic of); Cho, Nariya; Moon, Hyeong Gon [Seoul National University Hospital, Seoul National University College of Medicine, Seoul (Korea, Republic of); Ahn, Hye Shin [Dept. of Radiology, Chung-Ang University Hospital, Seoul (Korea, Republic of)

    2014-10-15

    Cowden syndrome is an uncommon, autosomal dominant disease which is characterized by multiple hamartomas of the skin, mucous membrane, brain, breast, thyroid, and gastrointestinal tract. The diagnosis of Cowden syndrome implicates an increased risk of developing breast cancer. We report a case of a 22-year-old woman with Cowden syndrome that presented as breast cancer with concomitant bilateral exuberant benign masses in both breasts.

  5. POEMS syndrome: unusual radiographic, scintigraphic and CT features

    International Nuclear Information System (INIS)

    Narvaez, J.A.; Majos, C.; Valls, C.; Fernandez-Cabrera, L.; Narvaez, J.

    1998-01-01

    POEMS syndrome is a multisystemic disorder related to a plasma cell dyscrasia. Radiologically, this syndrome is characterized by sclerotic focal bone lesions with a normal radionuclide bone scan. We report a case of POEMS syndrome with an expansile lytic lesion in the sternum showing periosteal reaction and soft tissue mass, which revealed locally increased uptake of radiotracer in bone scintigraphy. These unusual findings and the differential diagnosis are discussed. (orig.)

  6. Dentofacial hypoplasia due to radiotherapy for rhabdomyosarcoma in a child

    Energy Technology Data Exchange (ETDEWEB)

    Ohishi, Shin-ichiro; Kusukawa, Jingo; Nagao, Yumiko; Esaki, Kazuhisa; Kameyama, Tadamitsu; Eguchi, Haruhiko [Kurume Univ., Fukuoka (Japan). School of Medicine

    1997-12-01

    A case of secondary dentofacial deformity due to late effects of irradiation for childhood cancer originating in the oral cavity is reported. A 15-year-old girl was referred to the Department of Oral and Maxillofacial Surgery, Kurume University Hospital, because of masticatory dysfunction. The patient had received chemotherapy and irradiation because of rhabdomyosarcoma of the soft palate at 3 years of age. A total radiation dose of 4,000 cGy with {sup 60}Co had been delivered to the oral and maxillofacial region, including the maxilla and mandible. Bilateral micrognathia and hypoplasia of the permanent teeth in the irradiated field were observed. We emphasize the importance of oral care during treatment and follow-up of patients with childhood cancer to improve quality of life. (author)

  7. Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.

    Science.gov (United States)

    Olson, Heather E; Tambunan, Dimira; LaCoursiere, Christopher; Goldenberg, Marti; Pinsky, Rebecca; Martin, Emilie; Ho, Eugenia; Khwaja, Omar; Kaufmann, Walter E; Poduri, Annapurna

    2015-09-01

    Rett syndrome and neurodevelopmental disorders with features overlapping this syndrome frequently remain unexplained in patients without clinically identified MECP2 mutations. We recruited a cohort of 11 patients with features of Rett syndrome and negative initial clinical testing for mutations in MECP2. We analyzed their phenotypes to determine whether patients met formal criteria for Rett syndrome, reviewed repeat clinical genetic testing, and performed exome sequencing of the probands. Using 2010 diagnostic criteria, three patients had classical Rett syndrome, including two for whom repeat MECP2 gene testing had identified mutations. In a patient with neonatal onset epilepsy with atypical Rett syndrome, we identified a frameshift deletion in STXBP1. Among seven patients with features of Rett syndrome not fulfilling formal diagnostic criteria, four had suspected pathogenic mutations, one each in MECP2, FOXG1, SCN8A, and IQSEC2. MECP2 mutations are highly correlated with classical Rett syndrome. Genes associated with atypical Rett syndrome, epilepsy, or intellectual disability should be considered in patients with features overlapping with Rett syndrome and negative MECP2 testing. While most of the identified mutations were apparently de novo, the SCN8A variant was inherited from an unaffected parent mosaic for the mutation, which is important to note for counseling regarding recurrence risks. © 2015 Wiley Periodicals, Inc.

  8. Auditory characteristics of individuals with temporomandibular dysfunctions and dentofacial deformities

    Directory of Open Access Journals (Sweden)

    Tatiane Totta

    2013-10-01

    Full Text Available OBJECTIVE: To investigate whether there is any relationship between otological as well as vestibular symptoms, audiological findings and type of temporomandibular disorder (articular, muscular and mixed; and to check the distribution of the temporomandibular disorders (TMD dysfunction degree in the research population. METHODS: A retrospective study involving 30 patients of both sexes, aged between 18 and 49 years old, diagnosed with TMD and dentofacial deformities, who were subject to clinical evaluation (muscle palpation, auscultation of temporomandibular joint during mandibular motion and measurement of jaw movement, audiological testing (pure tone audiometry and immittance testing and two questionnaires, one on otological and vestibular symptoms and the other on TMD anamnesis. Based on both the anamnesis questionnaire and the clinical assessment, the subjects were divided according to the type and degree of TMD dysfunction (mild, moderate and severe, and compared regarding the occurrence of auditory signs and symptoms, vestibular symptoms and audiological findings according to TMD type. RESULTS: The anamnesis questionnaire demonstrated higher prevalence (83.33% of severe TMD. Subjects with mixed TMD had more complaints about hypoacusis than those with muscular TMD (p < 0.05. The results showed no change in either audiological and immittance testing for all assessed individuals. CONCLUSION: Otological symptoms are present in subjects with TMD and dentofacial deformities, regardless of the classification of TMD (articular, muscular or mixed. Those with mixed TMD may have higher incidence of complaints about hypoacusis than subjects with muscular TMD. Further studies are needed to investigate the relationship between otological symptoms and the different types of TMD.

  9. Cognitive, adaptive, and behavioral features in Joubert syndrome

    OpenAIRE

    Poretti, Andrea; Gerner, Gwendolyn J.

    2016-01-01

    Investigators from multiple Italian pediatric neurology and neurogenetics departments studied cognitive functions, behavior, and adaptive functioning in large cohort of 54 patients with Joubert syndrome (JS) as part of a prospective, multi-center study.

  10. Schizotypy: key feature of Klinefelter’s syndrome?

    OpenAIRE

    Verhoeven, Willem M A; Egger, Jos I M

    2011-01-01

    Klinefelter’s syndrome (KS; karyotype 47,XXY) is associated with specific neurocognitive impairments, especially delayed language development and impaired socioemotional evolution. There is an increased risk for psychiatric disturbances, particularly schizophrenia and affective spectrum disorders.

  11. Ocular Features of Cerebro-Costo-Mandibular Syndrome.

    Science.gov (United States)

    Hameed, Zoya; Taylor, Simon; Lindfield, Dan

    2018-01-01

    Cerebro-costo-mandibular syndrome (CCMS) is a rare hereditary disorder characterized by micrognathia, posterior rib gaps, and secondary developmental delay. Patients often require ventilation and feeding support throughout life. We describe the first reported ophthalmic findings of CCMS and propose that defects in choroidal permeability lead to chronic macular edema and refractory aqueous misdirection syndrome. Here we discuss the medical and surgical management concerns of recurrent angle closure and raised intraocular pressure in a CCMS patient.

  12. EEG features of absence seizures in idiopathic generalized epilepsy: Impact of syndrome, age, and state

    DEFF Research Database (Denmark)

    Sadleir, L.G.; Scheffer, I.E.; Smith, S.

    2009-01-01

    Purpose: Factors influencing the electroencephalography (EEG) features of absence seizures in newly presenting children with idiopathic generalized epilepsy (IGE) have not been rigorously studied. We examined how specific factors such as state, provocation, age, and epilepsy syndrome affect the E...

  13. Correlation between clinical features and MECP2 gene mutations in patients with Rett syndrome

    Directory of Open Access Journals (Sweden)

    Hisham Megahed

    2015-03-01

    Conclusions: Mutation screening for MECP2 is a fast and reliable method to diagnose patients clinically suspected to suffer from Rett syndrome or female patients with atypical Rett syndrome features, mental retardation, developmental delay and other neurological abnormalities who do not fit any specific diagnosis. Also, patients with MECP2 mutation presented with a more severe phenotype.

  14. Persistent left superior vena cava: an overlooked feature of CHARGE syndrome?

    Directory of Open Access Journals (Sweden)

    Paula Goldenberg

    2015-12-01

    Full Text Available CHARGE is a well-characterized syndrome (OMIM 2148400 associated with multiple congenital anomalies including cardiovascular malformations. Mutations in CHD7 are the most common cause of CHARGE syndrome. Persistent left superior vena cava (LSVC has been described in patients with CHARGE syndrome in one study of LSVC associations. A retrospective chart review was conducted for all patients with CHARGE syndrome, diagnosed by Blake criterion features and/or the presence of a pathogenic CHD7 mutation. Echocardio - grams were performed on a clinical basis for all patients and were systematically reviewed and classified. Persistent LSVC was present in 50% of patients with CHARGE syndrome (4/8 and was seen in 3 out of 33 patients seen by cardiovascular genetics with 22q11.2 deletion syndrome. Persistent LSVC is a common finding in patients with CHARGE syndrome and its presence may increase the index of suspicion in patients with other characteristic congenital anomalies.

  15. Serologic features of primary Sjögren’s syndrome: clinical and prognostic correlation

    Science.gov (United States)

    García-Carrasco, Mario; Mendoza-Pinto, Claudia; Jiménez-Hernández, César; Jiménez-Hernández, Mario; Nava-Zavala, Arnulfo; Riebeling, Carlos

    2013-01-01

    Sjögren’s syndrome (SS) is a chronic inflammatory systemic autoimmune disease. The disease spectrum extends from sicca syndrome to systemic involvement and extraglandular manifestations, and SS may be associated with malignancies, especially non-Hodgkin’s lymphoma. Patients with SS present a broad spectrum of serologic features. Certain serological findings are highly correlated with specific clinical features, and can be used as prognostic markers. PMID:23525186

  16. Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2).

    Science.gov (United States)

    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

  17. Joubert Syndrome: Imaging Features and Illustration of a Case

    International Nuclear Information System (INIS)

    Arora, Richa

    2014-01-01

    Joubert Syndrome (JS) is a rare autosomal recessive disorder characterised clinically by neonatal breathing dysregulation, developmental delay, intellectual disability, hypotonia, ataxia, nystagmus. We present another case of this uncommon syndrome in a 12 years old patient presenting with classical complaints of developmental delay, intellectual impairment, weakness in both lower limbs, ataxia and abnormal facies and diagnosed on Computed Tomography. Joubert Syndrome should be ruled out in all patients presenting with hypotonia, ataxia, nystagmus, breathing abnormalities and developmental delay. Its neuroimaging hallmarks include molar tooth sign and batwing shaped fourth ventricle. As JS is associated with multiorgan involvement, these patients should enter a diagnostic protocol to assess systemic abnormalities. Extreme caution should be taken while administering drugs in these patients as they are prone to respiratory depression

  18. The radiological and clinical features of Gardner's syndrome

    International Nuclear Information System (INIS)

    Peters, P.E.; Gaebler, J.; Lingemann, B.; Ritter, W.; Muenster Univ.; Muenster Univ.

    1982-01-01

    Gardner's syndrome, completely expressed, consists of a trio of familial polyposis of the colon, osteomas and mesenchymal tumours of the skin. Inheritence is autosomal dominant. In many patients with familial polyposis of the colon, only mesenchymal skin tumours or osteomas can be demonstrated. It is therefore possible that Gardner's syndrome and familial polyposis represent two extremities of a single disease which is characterised by marked variability in the expressivity of the gene. Gardner's syndrome has been considered a rare condition occurring in only about 8% of patients with familial polyposis. Amongst the 20 patients with colonic polyposis from eleven families, mesenchymal and/or osseous lesions were found in seventeen (85%). Osteomas of the mandible were shown particularly frequently by orthopantomography. Since polyposis of the colon tends to remain symptomless for many years, the finding of oesteomas in the facial skeleton, or recurrent skin tumours in young patients, should lead to further investigation. (orig.) [de

  19. Histopathologic features in a case of hyperimmunoglobulinemia D syndrome

    Directory of Open Access Journals (Sweden)

    Sarah Pace

    2015-01-01

    Full Text Available We describe a case of Mevalonate Kinase Deficiency (MKD also known as Hyperimmunoglobulinemia D Syndrome (HIDS presenting as a Sweet-like syndrome in a 5-week-old with multiple erythematous plaques, fever, aseptic meningitis, and bronchiolitis. The locations of the predominant plaques were periumbilical and periocular, which originally prompted concern for omphalitis and preseptal cellulitis. Histopathology demonstrated a neutrophilic and histiocytic dermatitis with prominent squamous syringometaplasia and leukocytoclasis in the absence of a vasculitis. This case is reported here due to the unique findings of a prominent histiocytic component in addition to the typically described neutrophilic infiltrate.

  20. Shaken baby syndrome: pathogenetic mechanism, clinical features and preventive aspects.

    Science.gov (United States)

    Vitale, A; Vicedomini, D; Vega, G R; Greco, N; Messi, G

    2012-12-01

    The shaken baby syndrome (SBS) is an extremely serious form of child abuse and a leading cause of death and disability in childhood. The syndrome usually occurs in infants younger than 1 year when a parent or a care-giver tries to stop the baby from crying by vigorous manual shaking. The repetitive oscillations with rotational acceleration of the head can result in injuries of both vascular and neuronal structures. The most frequent injuries associated with SBS include encephalopathy, retinal hemorrhages, and subdural hemorrhage. Fractures of the vertebrae, long bones, and ribs may also be associated with the syndrome. Victims of abuse have various presenting signs and symptoms ranging from irritability, decreased responsiveness and lethargy to convulsions, and death. Diagnosis is often difficult because usually parents or caregivers not tell the truth about what has happened to their child and because usually there is no external evidence of trauma. However, the syndrome might be suspected if the information provided are vague or changing and when the child presents with retinal hemorrhages, subdural hematoma, or fractures that cannot be explained by accidental trauma or other medical conditions. Of infants who are victims of SBS, approximately 15% to 38% die and 30% are at risk of long-term neurologic sequelae, including cognitive and behavioural disturbances, motor and visual deficits, learning deficits and epilepsy. Parents and caregivers must be warned about the dangers of shaking infants.

  1. Proteus syndrome: The magnetic resonance and radiological features

    Energy Technology Data Exchange (ETDEWEB)

    Cremin, B.J.; Viljoen, D.L.; Beighton, P.; Wynchank, S.

    1987-10-01

    The Proteus syndrome is a recently delineated group of skeletal and mesodermal malformations. Its characteristics include hemihypertrophy and fatty/lymphangiomatous masses. This description outlines the imaging sequences available to the radiologist. It is mainly concerned with the use of magnetic resonance imaging. This shows the extent of the mesodermal malformation with particular reference to the extent of intra abdominal infiltration.

  2. Hypophosphatemic Rickets: Presenting Features of Fanconi—Bickel Syndrome

    Directory of Open Access Journals (Sweden)

    Mahua Roy

    2011-01-01

    Full Text Available Fanconi-Bickel Syndrome (FBS is a rare variety of glycogen storage disease (GSD. Characterized by massive hepatomegaly due to glycogen accumulation, severe hypophosphatemic rickets, and marked growth retardation due to proximal renal tubular dysfunction. We report a young boy presented as hypophosphatemic rickets with hepatomegaly and subsequently diagnosed as FBS.

  3. Distinguishing Features of Autism in Boys with Fragile X Syndrome

    Science.gov (United States)

    Brock, M.; Hatton, D.

    2010-01-01

    Background: Males with fragile X syndrome and autism (FXS/autism) represent a distinct subgroup of males with FXS at risk for markedly poorer outcomes. Early identification and intervention can improve outcomes for males with autism spectrum disorder. Method: To advance the development of a specialised autism screening tool for young males with…

  4. Transient left atrial dysfunction is a feature of Takotsubo syndrome

    DEFF Research Database (Denmark)

    Stiermaier, Thomas; Graf, Tobias; Möller, Christian

    2017-01-01

    BACKGROUND: Takotsubo syndrome (TTS) is characterized by a transient left and/or right ventricular dysfunction as a consequence of a distinctive pattern of regional wall motion abnormalities. However, a systematic evaluation of the left atrial (LA) function in patients with TTS is lacking. The ai...

  5. Cauda equina syndrome as the initial presenting clinical feature of medulloblastoma: a case report

    Directory of Open Access Journals (Sweden)

    Al-Otaibi Faisal

    2012-05-01

    Full Text Available Abstract Introduction Medulloblastoma is one of the most common pediatric brain malignancies. The usual presenting clinical features are related to posterior fossa syndrome or/and hydrocephalus. Cauda equina syndrome is a very rare presentation for this disease. Case presentation We describe the case of a three-year-old boy with cauda equina syndrome as the initial presenting clinical feature for medulloblastoma. He was initially diagnosed as having a spinal tumor by magnetic resonance imaging scan. Subsequently, a cranial magnetic resonance imaging scan revealed a posterior fossa tumor with features of dissemination. He had substantial improvement after treatment. This case report is complemented by a literature review related to this unusual presentation. Conclusions Medulloblastoma primarily presenting with cauda equina syndrome is very rare. However, spinal drop metastasis should be considered in the pediatric age group to avoid suboptimal management.

  6. Clinicopathological features of transient myeloproliferative syndrome and congenital leukaemia

    International Nuclear Information System (INIS)

    Sajid, N.; Ahmed, N.; Mahmood, S.

    2010-01-01

    The objectives of the study were to determine the spectrum of the clinical and pathological findings, the management and prognosis of patients of transient myeloproliferative syndrome (TMS) and congenital leukaemia. Study Design: Case series. Place and Duration of Study: The study was conducted over a period of 8 years, from January 2000 to December 2007, at the Children's Hospital and the Institute of Child Health, Lahore. Methodology: Suspected patients presenting with fever, pallor, bruises and hepatosplenomegaly and diagnosed as either transient myeloproliferative disorder or congenital leukaemia were studied. The complete blood count, reticulocyte count, leukocyte alkaline phosphatase score, liver function tests, karyotyping studies and bone marrow aspiration biopsy were performed in all of those patients. Management and out come was noted. Results were described as frequency percentages. Results: Out of 10,000 patients presenting during this period, 24 patients were diagnosed as either of transient myeloproliferative syndrome or congenital leukaemia. Fifteen of these were diagnosed as patients of TMS and 9 as patients of congenital leukaemia. Down syndrome (DS) was diagnosed in 75% of these patients. TMS patients were put on supportive treatment and recovered spontaneously. One DS patient with congenital leukaemia went into spontaneous remission and 2 of DS patients with congenital leukaemia responded to chemotherapy while rest of them either died or lost to follow-up. Conclusion: TMS and congenital leukaemia were not very uncommon in the studied population. Majority had Down syndrome. It is important to differentiate their clinical and pathological presentations for proper management. TMS may resolve with supportive treatment while congenital leukaemia is a fatal condition requiring chemotherapy. (author)

  7. Epileptic features in Cornelia de Lange syndrome: case report and literature review.

    Science.gov (United States)

    Pavlidis, Elena; Cantalupo, Gaetano; Bianchi, Sara; Piccolo, Benedetta; Pisani, Francesco

    2014-11-01

    Cornelia de Lange syndrome is a rare genetic disease, caused by mutations in three known different genes: NIBPL (crom 5p), SMC1A (crom X) and SMC3 (crom 10q), that account for about 65% of cases. This syndrome is characterized by distinctive facial features, psychomotor delay, growth retardation since the prenatal period (second trimester of pregnancy), hands and feet abnormalities, and involvement of other organs/systems. SMC1A and SMC3 mutations are responsible for a mild phenotype of the syndrome. We report the electroclinical features of epilepsy in a child with a mild Cornelia de Lange syndrome and furthermore we reviewed the descriptions of the epileptic findings available in the literature in patients with such syndrome. A large heterogeneity of the epileptic findings in the literature is reported. The presence of epilepsy could be related to pathophysiological factors independent of those implicated in the characterization of main classical phenotypic features. A more detailed description of the epileptic findings could help clinicians in the diagnosis of this syndrome in those cases lacking of the typical features. Copyright © 2013 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  8. Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome.

    Science.gov (United States)

    Miyake, Noriko; Abdel-Salam, Ghada; Yamagata, Takanori; Eid, Maha M; Osaka, Hitoshi; Okamoto, Nobuhiko; Mohamed, Amal M; Ikeda, Takahiro; Afifi, Hanan H; Piard, Juliette; van Maldergem, Lionel; Mizuguchi, Takeshi; Miyatake, Satoko; Tsurusaki, Yoshinori; Matsumoto, Naomichi

    2016-10-01

    Coffin-Siris syndrome is a rare congenital malformation and intellectual disability syndrome. Mutations in at least seven genes have been identified. Here, we performed copy number analysis in 37 patients with features of CSS in whom no causative mutations were identified by exome sequencing. We identified a patient with a 9p24.3-p22.2 duplication and another patient with the chromosome der(6)t(6;9)(p25;p21)mat. Both patients share a duplicated 15.8-Mb region containing 46 protein coding genes, including SMARCA2. Dominant negative effects of SMARCA2 mutations may contribute to Nicolaides-Baraitser syndrome. We conclude that their features better resemble Coffin-Siris syndrome, rather than Nicolaides-Baraitser syndrome and that these features likely arise from SMARCA2 over-dosage. Pure 9p duplications (not caused by unbalanced translocations) are rare. Copy number analysis in patients with features that overlap with Coffin-Siris syndrome is recommended to further determine their genetic aspects. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  9. The radiological features of Goltz syndrome: Focal dermal hypoplasia

    International Nuclear Information System (INIS)

    Boothyrod, A.E.; Hall, C.M.

    1988-01-01

    Two female infants with Goltz syndrome (focal dermal hypoplasia) were recently investigated for severe feeding problems and failure to thrive. Both demonstrated severe skeletal malformations and marked gastrooesophageal reflux with laxity of the hiatus. One child (case 1) exhibited nasal regurgitation during feeding. Interestingly, both children had undergone surgery; Case 1 or a right parasagittal abdominal hernia associated with focal dermal hypoplasia of the abdominal wall and Case 2 for an exomphalos also associated with dermal hypoplasia. This observation suggests more widespread mesodermal abnormality. (orig./GDG)

  10. A previously unreported association between Nance-Horan syndrome and spontaneous dental abscesses.

    Science.gov (United States)

    Hibbert, Sally

    2005-02-01

    Atypical dentofacial structures may be the first indicator of other anomalies linked to a syndrome. This case describes the management of a 9-year-old girl referred for the routine management of supernumerary teeth. The anomalous form of her teeth, together with multiple supernumerary units and a history of congenital cataracts, were suggestive of a diagnosis of Nance-Horan syndrome. This is an X-linked disorder, in which females usually demonstrate mild expression; this case was unusual in respect to the marked phenotype expressed. Unusually, the girl developed 2 spontaneous abscesses of her noncarious upper incisor teeth; a feature never previously described in this syndrome. This report details the patient's dental management and discusses the possible pathogenesis of the dental abscesses, together with the genetic implications of this syndrome.

  11. Low-intensity pulsed ultrasound in dentofacial tissue engineering.

    Science.gov (United States)

    Tanaka, Eiji; Kuroda, Shingo; Horiuchi, Shinya; Tabata, Akira; El-Bialy, Tarek

    2015-04-01

    Oral and maxillofacial diseases affect millions of people worldwide and hence tissue engineering can be considered an interesting and clinically relevant approach to regenerate orofacial tissues after being affected by different diseases. Among several innovations for tissue regeneration, low-intensity pulsed ultrasound (LIPUS) has been used extensively in medicine as a therapeutic, operative, and diagnostic tool. LIPUS is accepted to promote bone fracture repair and regeneration. Furthermore, the effect of LIPUS on soft tissues regeneration has been paid much attention, and many studies have performed to evaluate the potential use of LIPUS to tissue engineering soft tissues. The present article provides an overview about the status of LIPUS stimulation as a tool to be used to enhance regeneration/tissue engineering. This review consists of five parts. Part 1 is a brief introduction of the acoustic description of LIPUS and mechanical action. In Part 2, biological problems in dentofacial tissue engineering are proposed. Part 3 explores biologic mechanisms of LIPUS to cells and tissues in living body. In Part 4, the effectiveness of LIPUS on cell metabolism and tissue regeneration in dentistry are summarized. Finally, Part 5 relates the possibility of clinical application of LIPUS in orthodontics. The present review brings out better understanding of the bioeffect of LIPUS therapy on orofacial tissues which is essential to the successful integration of management remedies for tissue regeneration/engineering. To develop an evidence-based approach to clinical management and treatment of orofacial degenerative diseases using LIPUS, we would like to be in full pursuit of LIPUS biotherapy. Still, there are many challenges for this relatively new strategy, but the up to date achievements using it promises to go far beyond the present possibilities.

  12. Frequency of dentofacial asymmetries: a cross-sectional study on orthodontic patients.

    Science.gov (United States)

    Bhateja, Nita Kumari; Fida, Mubassar; Shaikh, Attiya

    2014-01-01

    Correction of orthodontic asymmetries is crucial to achieve functional occlusion, aesthetics and stability of post orthodontic treatment results. To date valid frequency data of dentofacial asymmetries in Pakistani orthodontic patients do not exist to document orthodontic treatment need. The objectives of this study were to determine frequency of dento-facial asymmetries, severity of dental asymmetries and to determine difference in frequency of dentofacial asymmetries in mixed and permanent dentition. The sample of this cross-sectional study comprised of 280 patients (177 females and 103 males) with no history of previous orthodontic treatment having no craniofacial anomalies. Dento-facial asymmetries were assessed from pre-treatment records of patients. Descriptive statistics were used to determine frequency of dentofacial asymmetries and severity of dental asymmetries. Chi-square test was used to determine difference in frequency of dentofacial asymmetries in mixed and permanent dentition. Seventy eight percent (219) of patients had noncoincident midlines, 67.5% (189) had mandibular midline asymmetry, 43.2% (122) had molar asymmetry, 15.7% (44) had mandibular arch asymmetry, 14.3% (40) had maxillary midline asymmetry, 13.6% (38) had maxillary arch asymmetry, 6.1% (17) had nose deviation, and 12.1% (34) had facial asymmetry and chin deviation. In most patients dental midlines were deviated from one another and from facial midline by ¼ lower incisor widths, while molar asymmetry was found in most patients by ¼ cusp width. Mandibular arch asymmetry was more frequent in permanent than mixed dentition (p = 0.054). Non-coincident dental midline is most commonly seen. Nose deviation is least commonly observed. Mandibular arch asymmetry is more frequent in permanent than mixed dentition.

  13. Update on Clinical Features and Brain Abnormalities in Neurogenetics Syndromes

    Science.gov (United States)

    Jackowski, Andrea Parolin; Laureano, Maura Regina; Del'Aquilla, Marco Antonio; de Moura, Luciana Monteiro; Assuncao, Idaiane; Silva, Ivaldo; Schwartzman, Jose Salomao

    2011-01-01

    Neuroimaging methods represent a critical tool in efforts to join the study of the neurobiology of genes with the neurobiology of behaviour, and to understand the neurodevelopmental pathways that give rise to cognitive and behavioural impairments. This article reviews the clinical features and highlights studies with a focus on the relevant…

  14. Lemierre’s Syndrome: A Neglected Disease with Classical Features

    Directory of Open Access Journals (Sweden)

    Andreas V. Hadjinicolaou

    2015-01-01

    Full Text Available We report the case of a previously healthy, immunocompetent 23-year-old male who presented to the Emergency Department with general malaise, difficulty in breathing, fever, and chest pain. He reported a two-week history of progressively worsening sore throat that he presumed to be a viral infection and thus initially neglected. However, when his condition deteriorated, he was admitted to hospital acutely unwell and in respiratory distress. He quickly developed septic shock requiring intensive care admission for inotropic support. Ultrasound and CT imaging revealed internal jugular vein thrombosis with associated septic emboli reaching the lungs to form bilateral cavitations and consequently pleural effusions. Blood cultures were positive for Fusobacterium necrophorum. Based on these findings, a diagnosis of Lemierre’s syndrome was made. The patient was treated with appropriate antibiotics and anticoagulation and gradually recovered. He was discharged 20 days after admission with advice to complete a six-week course of antibiotics.

  15. CLINICAL AND RADIOGRAPHIC FEATURES OF PARRY-ROMBERG SYNDROME

    Directory of Open Access Journals (Sweden)

    Mithula NAIR

    2017-10-01

    Full Text Available Parry-Romberg syndrome or progressive hemifacial atrophy is a craniofacial disorder characterized by slow and progressive atrophy, generally unilateral, of facial tissues including muscles, bones and skin. The coup de sabre is a clear line of demarcation seen between the normal and abnormal structures. The severity of the facial deformity is dependent on the age of onset of the disease. Cosmetic management is the only available treatment and has to be delayed until facial growth is completed. The present case report deals with a 43-year-old woman with progressive hemifacial atrophy which started from the age of 10 months. Despite almost complete involvement of the right paramedian area and the early age of onset, she had neither eye changes nor any dental malformations.

  16. Photoanthropometric Study of Dysmorphic Features of the Face in Children with Autism and Asperger Syndrome

    OpenAIRE

    Katarzyna Ziora; Agnieszka Kapinos- Gorczyca; Piotr Gorczyca; Joanna Oświęcimska

    2012-01-01

    Objective: Childhood autism is a neurodevelopmental disorder characterized by impairments in social interactions, verbal and non-verbal communication and by a pattern of stereotypical behaviors and interests. The aim of this study was to estimate the dysmorphic facial features of children with autism and children with Asperger syndrome . Methods: The examination was conducted on 60 children (30 with childhood autism and 30 with Asperger syndrome). The photo anthropometric method used in this ...

  17. Imaging features of mycobacterium in patients with acquired immunodeficiency syndrome

    International Nuclear Information System (INIS)

    Yang Jun; Sun Yue; Wei Liangui; Xu Yunliang; Li Xingwang

    2013-01-01

    Objective: To analyze the imaging features of mycobacterium in AIDS patients. Methods: Twenty-three cases of mycobacterium tuberculosis and 13 patients of non-tuberculous mycobacteria were proved etiologically and included in this study. All patients underwent X-ray and CT examinations, imaging data were analyzed and compared. Results: The imaging findings of mycobacterium tuberculosis in AIDS patients included consolidation (n = 11), pleural effusion (n = 11), mediastinal lymphadenopathy (n = 11). Pulmonary lesions were always diffuse distribution, and 14 patients of extrapulmonary tuberculosis were found. Pulmonary lesions in non-tuberculous mycobacteria tend to be circumscribed. Conclusions: Non-tuberculous mycobacterial infection in AIDS patients is more common and usually combined with other infections. Imaging features are atypical. (authors)

  18. Association between C-reactive protein and features of the metabolic syndrome

    DEFF Research Database (Denmark)

    Fröhlich, M; Imhof, A; Berg, Gabriele

    2000-01-01

    OBJECTIVE: To assess the association of circulating levels of C-reactive protein, a sensitive systemic marker of inflammation, with different components of the metabolic syndrome. RESEARCH DESIGN AND METHODS: Total cholesterol (TC), HDL cholesterol, triglycerides, uric acid, BMI , and prevalence...... concentrations in subjects grouped according to the presence of 0-1, 2-3, and > or =4 features of the metabolic syndrome were 1.11, 1.27, and 2.16 mg/l, respectively, with a statistically highly significant trend (P metabolic syndrome...

  19. Features of Diagnosing and Managing a Patient with DiGeorge Syndrome

    Directory of Open Access Journals (Sweden)

    O.S. Koreniuk

    2016-04-01

    Full Text Available The article presents a case of own clinical observation of DiGeorge syndrome (22q11.2 chromosome deletion syndrome in a child. The features of the disease course with the dominance of clinical symptoms of congenital malformations of the heart, blood vessels and lungs are noted. This case demonstrates the difficulty of diagnosing incomplete DiGeorge syndrome with moderate immunological disorders and transient hypocalcemia. Patient management should be focused not only on the surgical correction of congenital heart disease, but also on the prevention of recurrent infections and hypocalcemia, which prevents the complicated course of the disease and determines a favorable prognosis.

  20. CT image in Reye syndrome. Changes and features in the course of time

    Energy Technology Data Exchange (ETDEWEB)

    Murayama, Takashi; Sakuma, Nobuko; Ishikawa, Akashi; Saito, Yoko; Takebayashi, Takeyasu; Kuwashima, Shigeru (Hokkaido Univ., Sapporo (Japan). School of Medicine)

    1983-06-01

    In a male infant with infantile spasms which had been observed, Reye's syndrome occurred at the age of 1 year and 6 months. CT findings, before the onset of Reye's syndrome, in the acute stage of the disease, and in the recovering stage, were obtained. The features of the disease were shown as low-absorption areas in the frontal and fronto-temporal areas of the head, and also strongly degenerative findings in the same areas, even in the recovery stage. This seemed to be characteristic to Reye's syndrome, and the basis of the suggestion was discussed.

  1. Unique features of prune belly syndrome in laparoscopic surgery.

    Science.gov (United States)

    Saxena, Amulya K; Brinkmann, Olaf A

    2007-08-01

    The aim of this study was to evaluate the laparoscopic abdominal access modifications in children with prune belly syndrome undergoing a first stage Fowler-Stephens procedure. Eleven consecutive boys underwent a transperitoneal laparoscopic bilateral first stage Fowler-Stephens procedure. Patient age ranged from 1.5 to 3 years (mean age 2.2 years). In these patients, the floppy abdominal wall required a modified approach with regard to access technique, insufflation pressures, and work port stabilization methods. Duration of the procedures and intraoperative technical challenges encountered were prospectively documented. Mean operative time was 40 minutes (range 30 to 75 minutes), and all procedures were completed without any complications. Forceful insertion of ports was not possible, and all ports were introduced under complete open access. Larger volumes of carbon dioxide were used in the initial part of our series, when the ports were not sutured to the abdominal wall. An abdominal pressure of 8 mmHg was maintained in all patients and was considered optimal for the procedures. Short laparoscopy instruments (240 mm) were unsuitable for the procedures and had to be replaced by longer instruments (310 mm or 430 mm). Technical modifications are required to the approach in laparoscopic abdominal access to overcome the challenges posed by the floppy abdominal wall in prune belly patients. Open access, suture fixation of the optic and work ports, use of threaded sleeve ports, and use of proper length of laparoscopy instruments are valuable modifications to overcome the technical hurdles posed by these patients.

  2. [Economic class syndrome: epidemiological features and preventive measures].

    Science.gov (United States)

    Signorelli, Carlo; Pasquarella, Cesira; Trabacchi, Valeria; Carreri, Vittorio; Blangiardi, Francesco; Fara, Gaetano Maria

    2011-01-01

    The term "economic class syndrome" is generally used to describe the occurrence of venous thromboembolism (VTE) in travelers after long-distance airline travel in economic class. However, cases of VTE have also been reported in business class travelers and in subjects exposed to prolonged periods of immobilization while using other forms of transportation such as automobile, train, and bus. VTE manifests with deep vein thrombosis and pulmonary embolism but may also present with less severe, reversible manifestations such as headache, vertigo, and respiratory symptoms. Epidemiological studies have shown that the risk of VTE doubles following airline travel lasting longer than four hours. The risk of VTE increases with increased duration of air travel even in the presence of multiple stop-overs. In subjects with known risk factors, incidence of VTE depends on the degree of risk (low, medium, high) and on the duration of the flight. The main factor leading to VTE is prolonged immobilization and the pathogenesis is based on Virchow's triad: venous stasis, vessel wall injury, and hypercoagulability of blood. Specific characteristics of airline travel such as jet lag, low air quality and dehydration may increase the risk of VTE with respect to other forms of travel. This article discusses epidemiological aspects and pathogenesis of travel-related VTE and prophylactic measures that should be undertaken.

  3. Autism spectrum features in Smith-Magenis syndrome.

    Science.gov (United States)

    Laje, Gonzalo; Morse, Rebecca; Richter, William; Ball, Jonathan; Pao, Maryland; Smith, Ann C M

    2010-11-15

    Smith-Magenis syndrome (SMS; OMIM 182290) is a neurodevelopmental disorder characterized by a well-defined pattern of anomalies. The majority of cases are due to a common deletion in chromosome 17p11.2 that includes the RAI1 gene. In children with SMS, autistic-like behaviors and symptoms start to emerge around 18 months of age. This study included 26 individuals (15 females and 11 males), with a confirmed deletion (del 17p11.2). Parents/caregivers were asked to complete the Social Responsiveness Scale (SRS) and the Social Communication Questionnaire (SCQ) both current and lifetime versions. The results suggest that 90% of the sample had SRS scores consistent with autism spectrum disorders. Moreover, females showed more impairment in total T-scores (P = 0.02), in the social cognition (P = 0.01) and autistic mannerisms (P = 0.002) subscales. The SCQ scores are consistent to show that a majority of individuals may meet criteria for autism spectrum disorders at some point in their lifetime. These results suggest that SMS needs to be considered in the differential diagnosis of autism spectrum disorders but also that therapeutic interventions for autism are likely to benefit individuals with SMS. The mechanisms by which the deletion of RAI1 and contiguous genes cause psychopathology remain unknown but they provide a solid starting point for further studies of gene-brain-behavior interactions in SMS and autism spectrum disorders.

  4. Mallory-Weiss syndrome: clinical features and management.

    Science.gov (United States)

    Dwivedi, M; Misra, S P

    1999-04-01

    To report the clinical features, endoscopic appearance, management and outcome of patients with upper gastrointestinal bleeding due to Mallory-Weiss tear seen at our institution during the last seven years. A retrospective study of all patients with upper gastrointestinal bleeding seen during the last seven years was performed. Patients who were bleeding from longitudinal non-perforating tear(s) of the gastro-oesophageal mucosa were included in the study and their clinical features, endoscopic appearance management and outcome were recorded. During the study period 426 patients with upper gastrointestinal bleeding were seen. Sixty-six (15.5%) of these were found to have bled or were bleeding from Mallory-Weiss tear(s). Twenty-seven (41%) patients with Mallory-Weiss tear had no antecedent nausea, retching, abdominal pain or vomiting. Two patients had portal hypertension and a solitary case bled from an iatrogenic tear induced during routine upper gastrointestinal endoscopy. Multiple bleeding episodes were seen in 12% of cases. Twenty (30%) patients needed endoscopic sclerotherapy. Haemostasis was achieved in all. Except retrosternal pain, no procedure related complications were seen. Mallory-Weiss tear is a common cause of upper gastrointestinal bleeding. Nearly half of the patients have no antecedent symptoms and presented for the first time with upper gastrointestinal bleeding. Endoscopic therapy is very effective and safe in producing haemostasis in these patients.

  5. Moebius syndrome: clinical features, diagnosis, management and early intervention.

    Science.gov (United States)

    Picciolini, Odoardo; Porro, Matteo; Cattaneo, Elisa; Castelletti, Silvia; Masera, Giuseppe; Mosca, Fabio; Bedeschi, Maria Francesca

    2016-06-03

    Moebius syndrome (MBS) is rare disease characterized by nonprogressive congenital uni- or bi-lateral facial (i. e. VII cranial nerve) and abducens (i. e. VI cranial nerve) palsy. Although the neurological and ophthalmological findings are quite well-known, data concerning the attendant functional difficulties and their changes over time are seldom addressed. In this study we attempt to estimate the prevalence of clinical and functional data in an Italian cohort affected by MBS. The study included 50 children, 21 males and 29 females, aged 1 month to 14 years. The patients entered into a multidisciplinary diagnostic and follow-up protocol that had the specific purpose of detecting clinical and developmental deficits related to MBS. Involvement of the VII cranial nerve (total/partial, bilateral or unilateral) was present in 96 % of patients, and of the VI nerve in 85 %. Two patients were without impairment of the VII nerve and seven patients had no involvement of the VI nerve and were thus classified as Moebius-like because of the involvement of other CNs. Additional affected CNs were numbers III-IV in 16 %, V in 11 %, VIII and X each in 8 %, the XI in 6 %, the IX, most often partially, in 22 %, and the XII in 48 % of cases. Their development was characterized by global delay at one year of age, motor, emotional and speech difficulties at two years of age, a trend toward normalization at three years of age but with weakness in hand-eye coordination, and achieving average results at five years of age. Overall 90 % of children had a normal developmental quotient whereas only 10 % manifested cognitive deficits. Early rehabilitation may enhance the recovery of normal function, particularly in vulnerable areas of development. It is possible that early intervention that integrates sensory and visual information with emotional difficulties can improve the prognosis of the child with MBS.

  6. [Computed tomographic features of abdominal compartment syndrome complicated by severe acute pancreatitis].

    Science.gov (United States)

    Wu, Jingtao; Zhu, Qingqiang; Zhu, Wenrong; Chen, Wenxin; Wang, Shouan

    2014-11-25

    To explore the computed tomographic (CT) imaging features of abdominal compartment syndrome (ACS) complicated by severe acute pancreatitis (SAP) to improve the diagnosis of disease. Thirty-six cases of ACS and 61 cases of non-ACS (NACS) complicated by SAP were studied retrospectively. And the meaningful CT features were studied. Among them, the ACS vascular complications of abdominal cavity and gastrointestinal bleeding were found significantly more in ACS than in NACS (P treatment.

  7. Demographic Features in Patients with Complex Regional Pain Syndrome

    Directory of Open Access Journals (Sweden)

    Berat Meryem Alkan

    2011-12-01

    Full Text Available Summary Özet Orijinal Araştırma / Original Investigation 77 Aim: Complex regional pain syndrome (CRPS is characterized by pain, vasomotor and sudomotor changes and trophic disturbances. It may develop as a result of trauma, especially extremity fractures and surgery. Although the pathogenesis of CRPS is not exactly clear explained, it has been suggested that central and periferal mechanisms play role and neurogenic inflamatuar and microvasculer functional impairmensts are accompanying to the process. Not all but some of the patients with past trauma or with other possible etiological factors develop CRPS. This suggests the presence of an individual predisposition. In this article, we searched post fractüred CRPS-I patients demographic characteristics, current systemic diseases and symptoms that accompany a CRPS in our records. Materials and Methods: In this retrospective study conducted in Ankara Atatürk Education and Research Hospital, medical records of 356 patients admitted to physical medicine and rehabilitation outpatient clinics with fractures between January 2011 and June 2011 were evaluated and 34 patients diagnosed as CRPS-1 were included in the study. Results: 34 of 356 patients (9.56% with fractures were diagnosed as CRPS-1 in our outpatient clinics. Mean age of the patients was 46.05 years and 10 patients were females (29.4% and 24 patients (70.6% were males. Fractures were in upper extremities in 18 patients (52.9% and in lower extremities in 16 (47.1% patients. Neuropsychiatric disorders and other systemic diseases that may have a role in etiology of CRPS were found in lower rates in medical records of our patients. Conclusion: CRPS does not develop in every patients after travma who has etiologic risk factors, so it reminds that there exists a tendency to CRPS. We have observed that CRPS-1 risk was increased in male patients and in upper extremity fractures. We did not observe any other impertant factor which increases

  8. Clinical and ultrasound features in patients with intersection syndrome or de Quervain's disease.

    Science.gov (United States)

    Sato, J; Ishii, Y; Noguchi, H

    2016-02-01

    We investigated the demographic characteristics of patients who were diagnosed with intersection syndrome and also investigated the dominance of the affected hand, duration of symptoms and any precipitating factor for pain of the wrist. These features were compared with patients who had de Quervain's disease. Ultrasonography was used to confirm the clinical diagnosis. Intersection syndrome occurred more frequently in men and in the dominant hand than de Quervain's disease when all the patients were compared and when peripartum women were excluded. It occurred at a younger age than de Quervain's disease only when the comparison excluded peripartum women. Patients with intersection syndrome presented with a much shorter duration of symptoms. These results were consistent with previous reports about occupational factors in intersection syndrome, and might be helpful in the understanding of epidemiological difference between the two conditions. Level 3. © The Author(s) 2015.

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

    Science.gov (United States)

    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…

  10. Clinical features and pathophysiology of Complex Regional Pain Syndrome ? current state of the art

    OpenAIRE

    Marinus, Johan; Moseley, G. Lorimer; Birklein, Frank; Baron, Ralf; Maih?fner, Christian; Kingery, Wade S.; van Hilten, Jacobus J.

    2011-01-01

    That a minor injury can trigger a complex regional pain syndrome (CRPS) - multiple system dysfunction, severe and often chronic pain and disability - has fascinated scientists and perplexed clinicians for decades. However, substantial advances across several medical disciplines have recently increased our understanding of CRPS. Compelling evidence implicates biological pathways that underlie aberrant inflammation, vasomotor dysfunction, and maladaptive neuroplasticity in the clinical features...

  11. The value of anthropometric indices for identifying women with features of metabolic syndrome

    Science.gov (United States)

    BMI is a widely used anthropometric measure for identifying CVD and metabolic syndrome (MetS) risk. Two new anthropometric indices are A Body Shape Index (ABSI) and Body Roundness Index (BRI) that may provide better correlations to features of MetS. Methods: Subject data were obtained from 91 over...

  12. The Rett Syndrome Complex: Communicative Functions in Relation to Developmental Level and Autistic Features.

    Science.gov (United States)

    Sandberg, Annika Dahlgren; Ehlers, Stephan; Hagberg, Bengt; Gillberg, Christopher

    2000-01-01

    Communicative functions, overall developmental level, and autistic features were studied in eight females (ages 11-36) with Rett Syndrome. Low levels of communicative abilities and overall functioning were demonstrated, and joint attention behaviors and expression of communicative intent were rare. Six subjects, however, showed clear examples of…

  13. Hypertension Is a Key Feature of the Metabolic Syndrome in Subjects Aging with HIV

    DEFF Research Database (Denmark)

    Martin-Iguacel, Raquel; Negredo, Eugènia; Peck, Robert

    2016-01-01

    to predispose to these metabolic complications and to the excess risk of CVD observed in the HIV population. The metabolic syndrome (MS) represents a clustering of RF for CVD that includes abdominal obesity, hypertension, dyslipidemia and insulin resistance. Hypertension is a prevalent feature of the MS in HIV...

  14. Ellis–van Creveld syndrome with facial dysmorphic features in an ...

    African Journals Online (AJOL)

    Ellis–van Creveld syndrome (EVC) is a chondroectodermal dysplasia. The tetrad of cardinal features includes disproportionate dwarfism, bilateral postaxial polydactyl of hands, hidrotic ectodermal dysplasia, and congenital cardiac malformations. This rare condition is inherited as an autosomal recessive trait with variable ...

  15. Possible bradycardic mode of death and successful pacemaker treatment in a large family with features of long QT syndrome type 3 and Brugada syndrome

    NARCIS (Netherlands)

    Van Den Berg, Maarten P.; Wilde, Arthur A. M.; Viersma, Jan Willem; Brouwer, Jan; Haaksma, Jaap; Van Der Hout, Annemieke H.; Stolte-Dijkstra, Irene; Bezzina, Connie R.; Van Langen, Irene M.; Beaufort-Krol, Gertie C. M.; Hein Cornel, J.A.N.; Crijns, Harry J. G. M.

    Introduction: We recently identified a novel mutation of SCN5A (1795insD) in a large family with features of both long QT syndrome type 3 and the Brugada syndrome. The purpose of this study was to detail the clinical features and efficacy of pacemaker therapy in preventing sudden death in this

  16. Possible bradycardic mode of death and successful pacemaker treatment in a large family with features of long QT syndrome type 3 and Brugada syndrome

    NARCIS (Netherlands)

    van den Berg, M. P.; Wilde, A. A.; Viersma, T. J. W.; Brouwer, J.; Haaksma, J.; van der Hout, A. H.; Stolte-Dijkstra, I.; Bezzina, C. R.; van Langen, I. M.; Beaufort-Krol, G. C.; Cornel, J. H.; Crijns, H. J.

    2001-01-01

    We recently identified a novel mutation of SCN5A (1795insD) in a large family with features of both long QT syndrome type 3 and the Brugada syndrome. The purpose of this study was to detail the clinical features and efficacy of pacemaker therapy in preventing sudden death in this family. The study

  17. GAPO syndrome : a new case of this rare syndrome and a review of the relative importance of different phenotypic features in diagnosis

    NARCIS (Netherlands)

    Bacon, W; Hall, RK; Roset, JP; Boukari, A; Tenenbaum, H; Walter, B

    1999-01-01

    The case of GAPO syndrome reported here is the 24th recorded case, 23 cases having been published previously. The 29-year-old male under discussion presents all the typical features of the syndrome, having short stature, dysmorphic craniofacial features. total alopecia and pseudoanodontia. Orally,

  18. Hemizygosity at the elastin locus and clinical features of Williams syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Morimoto, Y; Kuwano, A. [Ehime Univ. School of Medicine (Japan); Kuwajima, K. [Ibaraki Perfectural Handicap Children`s Hopsital (Japan)] [and others

    1994-09-01

    Williams syndrome is a recognizable syndrome characterized by distinctive facial appearance, gregarious personality, mental retardation, congenital heart defect, particularly supravalvular aortic stenosis (SVAS), and joint limitation. SVAS is an autosomal vascular disorder and the elastin gene was disrupted in patients with SVAS. Ewat et al. reported that hemizygosity at the elastin locus was detected in four familial and five sporadic cases of Williams syndrome. However, three patients did not have SVAS. We reconfirmed hemizygosity at the elastin locus in five patients with typical clinical features of Williams syndrome. Hemizygosity was detected in four cases with SVAS. However, one patient with distinctive facial appearance and typical Williams syndrome personality had two alleles of the elastin gene, but he did not have the congenital heart anomaly. Williams syndrome is thought to be a contiguous gene disorder. Thus, our data suggest that the elastin gene is responsible for the vascular defect in patients with Williams syndrome, and flanking genes are responsible for characteristic facial appearance and personality.

  19. Microaspiration Syndrome in Pediatric Practice: Modern Features and Role in Bronchial Obstruction Syndrome Formation

    Directory of Open Access Journals (Sweden)

    S.I. Ilchenko

    2016-10-01

    Full Text Available The paper presents the data on research of aspiration syndrome prevalence among young children treated in the City children’s pulmonary department due to protracted course of obstructive bronchitis. The structure of microaspiration reasons in young children was studied (2010–2015. The most significant reasons of microaspiration syndrome development were revealed depending on children age. Modified questionnaire for the parents was used to collect anamnesis effectively. The children with perinatal impairment of nervous system, preterm children, and the children with morphological and physio­logical nasopharyngeal defects, with muscular dystonia are firstly in risk group for microaspiration syndrome. Microaspiration may manifest with frequent regurgitation, vomiting during cough, meal leaking from the nose, correlation of coughing fit with feeding, exacerbation or development of coughing in prone position, fit of night coughing and asphyxia, long-term hacking after cough attack. Pediatricians are recommended to observe attentively their patients during each feeding as dysphagy could be inconstant. Microaspiration syndrome is a challenging for diagnosis and requires complex approach, as mostly diagnostic procedures are invasive. Timely diagnosis and treatment of microaaspiration syndrome allow decrease respiratory diseases rate in young children and reduce obstructive bronchitis duration.

  20. FEATURES OF FORMATION OF COLLATERAL CIRCULATION IN PATIENTS WITH SUBCLAVIAN STEAL SYNDROME.

    Science.gov (United States)

    Kopolovets, I; Štefanič, P; Rusyn, V; Tóth, Š; Mashura, V; Berek, P

    2017-12-01

    To date in patients with subclavian steal syndrome diagnosis is only grade of stenosis or localization of occlusion described. Authors recommend to take into account also type of a collateral compensation of cerebral circulation for selection of an optimal treatment The objective of the research was to study the features of formation of collateral circulation in patients with subclavian steal syndrome. The authors described changes in the direction of blood flow in the extracranial vessels of 42 patients with subclavian steal syndrome. Latent subclavian steal syndrome was detected in 26.2% of patients, transient subclavian steal syndrome was found in 54.8% of patients, and a persistent course of the disease was observed in 19.9% of patients. Symptoms of vertebrobasilar insufficiency were detected in 26.6% of patients, and combination of chronic upper extremity ischemia and vertebrobasilar insufficiency was diagnosed in 73.8% of patients. When analyzing the features of collateral circulation in 64.3% of patients the extracranial compensatory mechanism was observed being provided by three main groups of collateral hemodynamic reallocation: the occipito-vertebral hemodynamic mechanism of compensation was detected in 38.1% of cases, the thyroid compensatory mechanism was found in 16.7% of cases, and the brain stem-occipital compensatory mechanism was observed in 9.5% of cases. In 35.7% of patients the intracranial compensatory mechanism was observed being provided by two main groups of collateral hemodynamic reallocation: the vertebro-vertebral compensatory mechanism was found in 21.4% of cases and cerebrobasilar compensatory mechanism was detected in 14.3% of cases. Consideration of the features of collateral circulation in patients with subclavian steal syndrome may serve as a prognostic criterion for selecting an optimal treatment tactics.Each of compensatory mechanisms has its own hemodynamic peculiarities. The occipito- vertebral compensatory mechanism has the

  1. A patient with monosomy 1p36, atypical features and phenotypic similarities with Cantu syndrome.

    Science.gov (United States)

    Tan, Tiong Yang; Bankier, Agnes; Slater, Howard R; Northrop, Emma L; Zacharin, Margaret; Savarirayan, Ravi

    2005-12-15

    We report on a 16-year-old boy with a distal 1p36 deletion with some clinical features consistent with Cantu syndrome (OMIM#239850). He also has hypercholesterolemia, type II diabetes, recurrent bony fractures, and non-alcoholic steatohepatitis, not previously described in either condition. The 1p36 deletion was detected in a screen of all chromosome subtelomeres using multiplex ligation-dependent probe amplification and was verified using FISH with a region-specific BAC clone. We suggest that patients suspected of having Cantu syndrome, especially those with unusual or more severe manifestations be analyzed for distal 1p36 deletions. 2005 Wiley-Liss, Inc.

  2. Impact of adenotonsillectomy on the dentofacial development of obstructed children: a systematic review and meta-analysis

    NARCIS (Netherlands)

    Becking, Bibi E.; Verweij, Jop P.; Kalf-Scholte, Sonja M.; Valkenburg, Cees; Bakker, Eric W. P.; van Merkesteyn, J. P. Richard

    2017-01-01

    Background: Dentofacial deformities frequently require orthodontic treatment. Understanding of preventable risk factors is essential for reducing treatment need. Upper airway obstruction (for example due to hypertrophic adenoids and/or tonsils) has been hypothesized to be a risk factor. Objectives:

  3. Mitochondrial DNA deletion in a patient with combined features of Leigh and Pearson syndromes

    Energy Technology Data Exchange (ETDEWEB)

    Blok, R.B.; Thorburn, D.R.; Danks, D.M. [Royal Children`s Hospital, Melbourne (Australia)] [and others

    1994-09-01

    We describe a heteroplasmic 4237 bp mitochondrial DNA (mtDNA) deletion in an 11 year old girl who has suffered from progressive illness since birth. She has some features of Leigh syndrome (global developmental delay with regression, brainstem dysfunction and lactic acidosis), together with other features suggestive of Pearson syndrome (history of pancytopenia and failure to thrive). The deletion was present at a level greater than 50% in skeletal muscle, but barely detectable in skin fibroblasts following Southern blot analysis, and only observed in blood following PCR analysis. The deletion spanned nt 9498 to nt 13734, and was flanked by a 12 bp direct repeat. Genes for cytochrome c oxidase subunit III, NADH dehydrogenase subunits 3, 4L, 4 and 5, and tRNAs for glycine, arginine, histidine, serine({sup AGY}) and leucine({sup CUN}) were deleted. Southern blotting also revealed an altered Apa I restriction site which was shown by sequence analysis to be caused by G{r_arrow}A nucleotide substitution at nt 1462 in the 12S rRNA gene. This was presumed to be a polymorphism. No abnormalities of mitochondrial ultrastructure, distribution or of respiratory chain enzyme complexes I-IV in skeletal muscle were observed. Mitochondrial disorders with clinical features overlapping more than one syndrome have been reported previously. This case further demonstrates the difficulty in correlating observed clinical features with a specific mitochondrial DNA mutation.

  4. Feature Selection for Better Identification of Subtypes of Guillain-Barré Syndrome

    Directory of Open Access Journals (Sweden)

    José Hernández-Torruco

    2014-01-01

    Full Text Available Guillain-Barré syndrome (GBS is a neurological disorder which has not been explored using clustering algorithms. Clustering algorithms perform more efficiently when they work only with relevant features. In this work, we applied correlation-based feature selection (CFS, chi-squared, information gain, symmetrical uncertainty, and consistency filter methods to select the most relevant features from a 156-feature real dataset. This dataset contains clinical, serological, and nerve conduction tests data obtained from GBS patients. The most relevant feature subsets, determined with each filter method, were used to identify four subtypes of GBS present in the dataset. We used partitions around medoids (PAM clustering algorithm to form four clusters, corresponding to the GBS subtypes. We applied the purity of each cluster as evaluation measure. After experimentation, symmetrical uncertainty and information gain determined a feature subset of seven variables. These variables conformed as a dataset were used as input to PAM and reached a purity of 0.7984. This result leads to a first characterization of this syndrome using computational techniques.

  5. Hybrid facial image feature extraction and recognition for non-invasive chronic fatigue syndrome diagnosis.

    Science.gov (United States)

    Chen, Yunhua; Liu, Weijian; Zhang, Ling; Yan, Mingyu; Zeng, Yanjun

    2015-09-01

    Due to an absence of reliable biochemical markers, the diagnosis of chronic fatigue syndrome (CFS) mainly relies on the clinical symptoms, and the experience and skill of the doctors currently. To improve objectivity and reduce work intensity, a hybrid facial feature is proposed. First, several kinds of appearance features are identified in different facial regions according to clinical observations of traditional Chinese medicine experts, including vertical striped wrinkles on the forehead, puffiness of the lower eyelid, the skin colour of the cheeks, nose and lips, and the shape of the mouth corner. Afterwards, such features are extracted and systematically combined to form a hybrid feature. We divide the face into several regions based on twelve active appearance model (AAM) feature points, and ten straight lines across them. Then, Gabor wavelet filtering, CIELab color components, threshold-based segmentation and curve fitting are applied to extract features, and Gabor features are reduced by a manifold preserving projection method. Finally, an AdaBoost based score level fusion of multi-modal features is performed after classification of each feature. Despite that the subjects involved in this trial are exclusively Chinese, the method achieves an average accuracy of 89.04% on the training set and 88.32% on the testing set based on the K-fold cross-validation. In addition, the method also possesses desirable sensitivity and specificity on CFS prediction. Copyright © 2015 Elsevier Ltd. All rights reserved.

  6. Caretaker Quality of Life in Rett Syndrome: Disorder Features and Psychological Predictors.

    Science.gov (United States)

    Killian, John T; Lane, Jane B; Lee, Hye-Seung; Pelham, James H; Skinner, Steve A; Kaufmann, Walter E; Glaze, Daniel G; Neul, Jeffrey L; Percy, Alan K

    2016-05-01

    Rett syndrome is a severe neurodevelopmental disorder affecting approximately one in 10,000 female births. The clinical features of Rett syndrome are known to impact both patients' and caretakers' quality of life in Rett syndrome. We hypothesized that more severe clinical features would negatively impact caretaker physical quality of life but would positively impact caretaker mental quality of life. Participants were individuals enrolled in the Rett Natural History Study with a diagnosis of classic Rett syndrome. Demographic data, clinical disease features, caretaker quality of life, and measures of family function were assessed during clinic visits. The Optum SF-36v2 Health Survey was used to assess caretaker physical and mental quality of life (higher scores indicate better quality of life). Descriptive, univariate, and multivariate analyses were used to characterize relationships between child and caretaker characteristics and caretaker quality of life. Caretaker physical component scores (PCS) were higher than mental component scores (MCS): 52.8 (9.7) vs 44.5 (12.1). No differences were demonstrated between the baseline and 5-year follow-up. In univariate analyses, disease severity was associated with poorer PCS (P = 0.006) and improved MCS (P = 0.003). Feeding problems were associated with poorer PCS (P = 0.007) and poorer MCS (P = 0.018). In multivariate analyses, limitations in caretaker personal time and home conflict adversely affected PCS. Feeding problems adversely impacted MCS. Caretaker quality of life in Rett syndrome is similar to that for caretakers in other chronic diseases. Disease characteristics significantly impact quality of life, and feeding difficulties may represent an important clinical target for improving both child and caretaker quality of life. The stability of quality-of-life scores between baseline and five years adds important value. Copyright © 2016 Elsevier Inc. All rights reserved.

  7. The overlap syndrome of asthma and COPD: what are its features and how important is it?

    Science.gov (United States)

    Gibson, P G; Simpson, J L

    2009-08-01

    There is a need to re-evaluate the concept of asthma and chronic obstructive pulmonary disease (COPD) as separate conditions, and to consider situations when they may coexist, or when one condition may evolve into the other. Epidemiological studies show that in older people with obstructive airway disease, as many as half or more may have overlapping diagnoses of asthma and COPD (overlap syndrome). These people are typically excluded from current therapy trials, which limit the generalisability of these trials, and this presents a problem for evidence-based guidelines for obstructive airway diseases. Studying overlap syndrome may shed light on the mechanisms of COPD development. Overlap syndrome is recognised by the coexistence of increased variability of airflow in a patient with incompletely reversible airway obstruction. Patients typically have inflammatory features that resemble COPD, with increased airway neutrophilia, as well as features of airway wall remodelling. Overlap syndrome can develop when there is accelerated decline in lung function, or incomplete lung growth, or both. The risk factors for these events are shared, such that increasing age, bronchial hyper-responsiveness, tobacco smoke exposure, asthma and lower respiratory infections/exacerbations are significant risk factors for both incomplete lung growth and accelerated loss of lung function. Studying these events may offer new insights into the mechanisms and treatment of obstructive airway diseases.

  8. [Enlarged vestibular aqueduct syndrome: etiology, clinical features, diagnostics, and rehabilitation of the patients].

    Science.gov (United States)

    Zelikovich, E I; Tropchina, L V; Kurilenkov, G V

    2015-01-01

    This publication was designed to describe the clinical manifestations of the enlarged vestibular aqueduct syndrome (EVAS), the currently employed methods for its diagnostics, and the strategy for the rehabilitation of the patients presenting with this pathological condition. In addition, the article provides information about the topographic anatomy and X-ray anatomy of the vestibular aqueduct, the specific clinical features of EVAS, the modern algorithm of its diagnostics, and the facilities for hearing rehabilitation in this group of patients.

  9. The surgical management of severe dentofacial infections (DFI)-a prospective study.

    Science.gov (United States)

    Bowe, Conor M; O'Neill, Maeve A; O'Connell, John E; Kearns, Gerard J

    2018-04-27

    Dentofacial infections (DFI) lead to morbidity and rarely, mortality. We hypothesised that certain clinical and laboratory parameter factors may be associated with a more severe course and an increased length of stay. We designed a prospective study that included all patients admitted with a DFI to the Oral and Maxillofacial Department between July 2014 and July 2015. A total of 125 were enrolled. We found that serum concentration of CRP on admission and increasing number of fascial spaces involved by the infection were significant predictors of hospital stay (p = 0.02 and p = 0.01, respectively). The average length of stay for a dentofacial infection requiring admission was 4.5 days. Most patients require surgical intervention in combination with intravenous antibiotics for successful resolution. Improved and timely access to primary dental care is likely to reduce the burden for patients their families and the acute hospital service as a consequence of advanced DFI.

  10. ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome

    Science.gov (United States)

    Miyatake, Satoko; Okamoto, Nobuhiko; Stark, Zornitza; Nabetani, Makoto; Tsurusaki, Yoshinori; Nakashima, Mitsuko; Miyake, Noriko; Mizuguchi, Takeshi; Ohtake, Akira; Saitsu, Hirotomo; Matsumoto, Naomichi

    2017-01-01

    KBG syndrome (KBGS) is an autosomal dominant multiple congenital anomaly-intellectual disability syndrome, characterized by developmental delay with neurological involvements, macrodontia of the upper central incisors, characteristic facial dysmorphism and skeletal anomalies. Variants in ANKRD11 cause KBGS. We present five individuals from four families with ANKRD11 variants identified by whole-exome sequencing. Four of the five were clinically affected, and their diagnoses were varied. One was typical KBGS, two were Coffin–Siris syndrome-like (CSS), and one was intellectual disability with infantile spasms. One individual showed extremely mild phenotype. All individuals fulfilled the proposed diagnostic criteria for KBGS. Phenotypic features overlap between KBGS and CSS to some extent, and characteristic dental and fifth finger/toe findings can indicate differential diagnosis. These findings indicate that patients with ANKRD11 variants occupy a wide spectrum of intellectual disability, including clinically normal individuals. This is the first report highlighting the clinical overlap between KBGS and CSS and supporting the recently proposed clinical concept, in which transcriptional machineries are disrupted. PMID:28250421

  11. ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome.

    Science.gov (United States)

    Miyatake, Satoko; Okamoto, Nobuhiko; Stark, Zornitza; Nabetani, Makoto; Tsurusaki, Yoshinori; Nakashima, Mitsuko; Miyake, Noriko; Mizuguchi, Takeshi; Ohtake, Akira; Saitsu, Hirotomo; Matsumoto, Naomichi

    2017-08-01

    KBG syndrome (KBGS) is an autosomal dominant multiple congenital anomaly-intellectual disability syndrome, characterized by developmental delay with neurological involvements, macrodontia of the upper central incisors, characteristic facial dysmorphism and skeletal anomalies. Variants in ANKRD11 cause KBGS. We present five individuals from four families with ANKRD11 variants identified by whole-exome sequencing. Four of the five were clinically affected, and their diagnoses were varied. One was typical KBGS, two were Coffin-Siris syndrome-like (CSS), and one was intellectual disability with infantile spasms. One individual showed extremely mild phenotype. All individuals fulfilled the proposed diagnostic criteria for KBGS. Phenotypic features overlap between KBGS and CSS to some extent, and characteristic dental and fifth finger/toe findings can indicate differential diagnosis. These findings indicate that patients with ANKRD11 variants occupy a wide spectrum of intellectual disability, including clinically normal individuals. This is the first report highlighting the clinical overlap between KBGS and CSS and supporting the recently proposed clinical concept, in which transcriptional machineries are disrupted.

  12. Cerebral, cerebellar, and colobomatous anomalies in three related males: Sex-linked inheritance in a newly recognized syndrome with features overlapping with Joubert syndrome

    NARCIS (Netherlands)

    Kroes, Hester Y.; Nievelstein, Rutger-Jan A. J.; Barth, Peter G.; Nikkels, Peter G. J.; Bergmann, Carsten; Gooskens, Rob H. J. M.; Visser, Gepke; van Amstel, Hans-Kristian Ploos; Beemer, Frits A.

    2005-01-01

    We present a so far unrecognized X-linked mental retardation syndrome with features overlapping with Joubert syndrome (JBS). Two brothers showed hypotonia, mental retardation, ocular abnormalities with impaired vision and colobomas and a breathing pattern compatible with JBS. Neuroimaging revealed

  13. Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations.

    Science.gov (United States)

    Armour, C M; Allanson, J E

    2008-04-01

    Cardio-facio-cutaneous syndrome (CFC) is a multiple congenital anomaly/mental retardation syndrome named because of a characteristic facies, cardiac anomalies, and ectodermal abnormalities. While considerable literature describes the main features, few studies have documented the frequencies of less common features allowing a greater appreciation of the full phenotype. We have analysed clinical data on 38 individuals with CFC and a confirmed mutation in one of the genes known to cause the condition. We provide data on well-established features, and those that are less often described. Polyhydramnios (77%) and prematurity (49%) were common perinatal issues. 71% of individuals had a cardiac anomaly, the most common being pulmonary valve stenosis (42%), hypertrophic cardiomyopathy (39%), and atrial septal defect (28%). Hair anomalies were also typical: 92% had curly hair, 84% sparse hair, and 86% absent or sparse eyebrows. The most frequent cutaneous features were keratosis pilaris (73%), hyperkeratosis (61%) and nevi (76%). Significant and long lived gastrointestinal dysmotility (71%), seizures (49%), optic nerve hypoplasia (30%) and renal anomalies, chiefly hydronephrosis (20%), were among the less well known issues reported. This study reports a broad range of clinical issues in a large cohort of individuals with molecular confirmation of CFC.

  14. [Is "the resistance to negative reinforcement" a feature of alcohol dependence syndrome?].

    Science.gov (United States)

    Kato, Shin

    2006-10-01

    In 1979, "Alcoholism Diagnosis Committee, the Ministry of Health and Welfare" established the diagnostic criteria for alcohol dependence syndrome, which included "the resistance to negative reinforcement". The author raises a question about this criterion which indicates the condition that "an individual continues to drink despite alcohol-related physical diseases, rejection by his/her family or economic poverty and drinking-related criminal problem." The author defines this condition not as "resistance to negative reinforcement" but as "resistance to punishment." Furthermore, the author can not find the data supporting that "the resistance to negative reinforcement" in the correct sense exists in the individuals with alcohol dependence syndrome. In a theoretical sense, an opposite idea seems to exist. There is an observed fact that can be regarded as a phenomenon that explains the involvement of "negative reinforcement" in enhancement of psychological dependence as in the case of the secondary development of psychological dependence. Consequently, the author would have to say that defining "the resistance to negative reinforcement" as one of common features of alcohol dependence syndrome or one of diagnostic criteria for alcohol dependence syndrome is inappropriate.

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

    Directory of Open Access Journals (Sweden)

    PASSONI Luiz Fernando C.

    2001-01-01

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

  16. Lamotrigine-induced hypersensitivity syndrome with histologic features of cd30+ lymphoma

    Directory of Open Access Journals (Sweden)

    Farid Stephan

    2016-01-01

    Full Text Available Drug rash with eosinophilia and systemic symptoms (DRESS syndrome or drug-induced hypersensitivity syndrome (DIHS is a severe adverse drug reaction. It can present with clinical, paraclinical, and histological findings mimicking skin and/or systemic lymphomas. We report the first case of a lamotrigine-induced DRESS with histologic features of a cutaneous CD30+ lymphoma. The patient responded well to a tapering course of oral steroids. This case highlights the atypical presentation of a lamotrigine-induced DRESS/DIHS in the presence of a cutaneous and a lymph node CD30 + lymphocytic infiltrate mimicking systemic lymphoma. Pathologists and clinicians must be aware of this “lymphomatous” presentation of drug reactions.

  17. ALS-Plus Syndrome: Non-Pyramidal Features in a Large ALS Cohort

    Science.gov (United States)

    McCluskey, Leo; Vandriel, Shannon; Elman, Lauren; Van Deerlin, Vivianna M.; Powers, John; Boller, Ashley; Wood, Elisabeth McCarty; Woo, John; McMillan, Corey T.; Rascovsky, Katya; Grossman, Murray

    2014-01-01

    Objective Autopsy studies show widespread pathology in amyotrophic lateral sclerosis (ALS), but clinical surveys of multisystem disease in ALS are rare. We investigated ALS-Plus syndrome, an understudied group of patients with clinical features extending beyond pyramidal and neuromuscular systems with or without cognitive/behavioral deficits. Methods In a large, consecutively-ascertained cohort of 550 patients with ALS, we documented atypical clinical manifestations. Genetic screening for C9orf72 hexanucleotide expansions was performed in 343 patients, and SOD1, TARDBP, and VCP were tested in the subgroup of patients with a family history of ALS. Gray matter and white matter imaging was available in a subgroup of 30 patients. Results Seventy-five (13.6%) patients were identified with ALS-Plus syndrome. We found disorders of ocular motility, cerebellar, extrapyramidal and autonomic functioning. Relative to those without ALS-Plus, cognitive impairment (8.0% vs 2.9%, p=0.029), bulbar-onset (49.3% vs 23.2%, pALS-Plus. Survival was significantly shorter in ALS-Plus (29.66 months vs 42.50 months, p=0.02), regardless of bulbar-onset or mutation status. Imaging revealed significantly greater cerebellar and cerebral disease in ALS-Plus compared to those without ALS-Plus. Conclusions ALS-Plus syndrome is not uncommon, and the presence of these atypical features is consistent with neuropathological observations that ALS is a multisystem disorder. ALS-Plus syndrome is associated with increased risk for poor survival and the presence of a pathogenic mutation. PMID:25086858

  18. Genetic, Cellular and Clinical Features of ICF Syndrome: a French National Survey.

    Science.gov (United States)

    Sterlin, Delphine; Velasco, Guillaume; Moshous, Despina; Touzot, Fabien; Mahlaoui, Nizar; Fischer, Alain; Suarez, Felipe; Francastel, Claire; Picard, Capucine

    2016-02-01

    Autosomal recessive deficiencies of DNMT3B or ZBTB24 account for two-thirds of cases of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome). This primary immunodeficiency (PID) is characterized mainly by an antibody deficiency, facial abnormalities and centromeric instability. We analyzed the national cohort of patients with ICF syndrome with the aim of providing a more detailed description of the phenotype and management of patients with ICF syndrome. Demographic, genetic, immunological, and clinical features were recorded for each patient. In the French cohort, seven of the nine patients carried DNMT3B mutations, six of which had never been described before. One patient had compound heterozygous ZBTB24 mutations. All patients were found to lack CD19(+)CD27(+) memory B cells. This feature is a major diagnostic criterion for both ICF1 and ICF2. Patients suffered both bacterial and viral infections, and three patients developed bronchiectasis. Autoimmune manifestations (hepatitis, nephritis and thyroiditis) not previously reported in ICF1 patients were also detected in two of our ICF1 patients. The mode of treatment and outcome of the French patients are reported, by genetic defect, and compared with those for 68 previously reported ICF patients. Immunoglobulin (Ig) replacement treatment was administered to all nine French patients. One ICF1 patient presented severe autoimmune manifestations and pancytopenia and underwent allogeneic hematopoietic stem cell transplantation (HSCT), but she died from unknown causes 6 years post-transplant. Autoimmune signs are uncommon in ICF syndrome, but, when present, they affect patient outcome and require immunosuppressive treatment. The long-term outcome of ICF patients has been improved by the combination of IgG replacement and antibiotic prophylaxis.

  19. Cognitive-behavioral features of Wolf-Hirschhorn syndrome and other subtelomeric microdeletions.

    Science.gov (United States)

    Fisch, Gene S; Grossfeld, Paul; Falk, Rena; Battaglia, Agatino; Youngblom, Janey; Simensen, Richard

    2010-11-15

    Wolf-Hirschhorn syndrome (WHS) is a complex congenital malformation produced by a loss of genomic material at the locus 4p16.3. In addition to its dysmorphic features, the deletion produces a range of intellectual disability (ID). Many clinical aspects of WHS are well-characterized; however, the cognitive-behavioral characteristics have been rarely examined in a systematic fashion. The purpose of our study was to examine the cognitive-behavioral features of WHS and to compare them to children with other subtelomeric deletions that also produce ID. We recruited 45 children with subtelomeric deletions and examined their cognitive-behavioral abilities using a neuropsychological assessment battery composed of standardized instruments. Nineteen children were diagnosed with WHS and 26 children with one of three other subtelomeric deletions-11q25 (Jacobsen syndrome), deletion 2q37, and inversion duplication deletion 8p21-23. We found children with WHS to be more severely impacted cognitively than children from any of the other groups. Their overall adaptive behavior was lower as well. However, children with WHS exhibit strengths in socialization skills comparable to the levels attained by the other groups we assessed. Importantly, the proportion of children with WHS with autism or autistic-like features is significantly lower than the rates of autism found in the other subtelomeric disorders we examined. © 2010 Wiley-Liss, Inc.

  20. 'Myxoedema madness' with Capgras syndrome and catatonic features responsive to combination olanzapine and levothyroxine.

    Science.gov (United States)

    Shlykov, Maksim A; Rath, Swapnil; Badger, Alison; Winder, Gerald Scott

    2016-09-09

    We present the case of an elderly woman with hypothyroidism and no psychiatric history who presented with new onset of psychosis, paranoia, catatonic features and Capgras syndrome (CS). This case illustrates the spectrum of neuropsychiatric symptoms that may accompany hypothyroidism and the importance of considering thyroid dysfunction as a primary contributor to severe psychiatric symptoms, especially in previously stable patients. We demonstrate the effectiveness of combination levothyroxine and olanzapine, with its favourable cardiac profile, in the treatment of myxoedema madness. Antipsychotics can be weaned once psychiatric symptoms resolve and hormone levels are stabilised. 2016 BMJ Publishing Group Ltd.

  1. Prader-Willi syndrome: a case report with atypical developmental features.

    Science.gov (United States)

    Sewaybricker, Letícia E; Guaragna-Filho, Guilherme; Paula, Georgette B; Andrade, Juliana G R; Tincani, Bruna J; D'Souza-Li, Lília; Lemos-Marini, Sofia H V; Maciel-Guerra, Andréa T; Guerra-Júnior, Gil

    2014-09-01

    To describe the case of a male Prader-Willi syndrome (PWS) patient with atypical development features. We report the case of a male adolescent with confirmed diagnosis of PWS which presents atypical phenotype. The patient progressed with spontaneous and complete pubertal development, stature in the normal range, and weight control without any pharmacological treatment, except metformin. PWS is an imprinting paternally inherited disorder of 15q11-13 characterized by hypotonia in infant age, hyperphagia, varied degrees of mental retardation, behavior problems, hypogonadism, short stature, and other less common findings.

  2. FEATURES OF THE CHRONIC PAIN SYNDROME IN PATIENTS WITH RHEUMATOID ARTHRITIS AND MEDICAL DIAGNOSTIC TACTICS

    Directory of Open Access Journals (Sweden)

    M. A. Gromova

    2016-01-01

    Full Text Available Objective: to establish features of a chronic pain syndrome disorders in patients with rheumatoid arthritis, to reveal correlation with psychoemotional disorders and to develop the differential approach to maintaining patients. Materials and methods. 101 patients at the age of 60.6 ± 11.8 years, 92 % of women, with reliable rheumatoid arthritis (American College of Rheumatology – ACR, 1987, were examined. The visual analog scale was used for an assessment of pain strength at the moment; the Van Korff’s questionnaire – for determination of pain strength at the moment and retrospectively for the last half a year with an assessment of disadaptation level and disability, ranging of a chronic pain syndrome on classes; the McGill Pain Questionnaire – for the characteristic of touchsensitive and emotional components of pain. Neuropathic pain was revealed by DN4 questionnaire. Anxiety and depression were determined by the Hospital Anxiety and Depression Scale (HADS. Fibromyalgia diagnosed by criteria of ACR, (1990. Results. Pain estimated by various scales and questionnaires varied from moderated to intensive. According to Van Korff’s questionnaire it was characterized by average level of disadaptation and easy disability that corresponded to the second class of chronic pain. The Rank pain index of the McGill Pain Questionnaire touch scale testified that pain was described by a smaller number of definitions on a touch scale than on emotional. This indicates a moderate impact of pain syndrome on a state of mind. Neuropathic pain is diagnosed for 37.3 % of patients with tunnel syndrome, mononeuritis and touch polyneuropathy. The secondary fibromyalgia is revealed for 2 % of patients with early rheumatoid arthritis of high activity. According to HADS anxiety and depression was revealed for 58 and 59 % of patients correspondingly. This demanded psychotherapeutic consultation and additional correction. We proposed the algorithm of diagnostic and

  3. Ohtahara syndrome or early-onset West syndrome? A case with overlapping features and favorable response to vigabatrin.

    Science.gov (United States)

    Korff, Christian M; Vulliemoz, Serge; Picard, Fabienne; Fluss, Joel

    2012-11-01

    The so called "severe neonatal epilepsies with suppression-burst pattern" include early infantile epileptic encephalopathy, and early myoclonic encephalopathy. Both syndromes are characterized by pharmacoresistant seizures that appear in the first weeks (up to the third month) of life, an electroencephalographic suppression-burst pattern, and a grim prognosis. Many patients later present with other forms of epileptic encephalopathies with difficult-to-treat seizures, such as West syndrome, and those who survive usually suffer from severe neurodevelopmental troubles. We here report the case of a patient who presented at our center with features consistent with a mixed form of these epileptic encephalopathies, and favorable neurodevelopmental evolution. To draw attention on the potentially favorable effect of vigabatrin in early-onset epileptic encephalopathies. Case study. In our patient, seizures immediately stopped upon initiation of vigabatrin treatment, and his development and neurological examination at one year are normal. Vigabatrin should be considered as an early treatment option in early-onset epileptic encephalopathies. Copyright © 2012 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

  4. Progressive encephalomyelitis with rigidity and myoclonus: a syndrome with diverse clinical features and antibody responses.

    Science.gov (United States)

    Shugaiv, Erkingül; Leite, Maria Isabel; Şehitoğlu, Elçin; Woodhall, Mark; Çavuş, Filiz; Waters, Patrick; İçöz, Sema; Birişik, Ömer; Uğurel, Elif; Ulusoy, Canan; Kürtüncü, Murat; Vural, Burçak; Vincent, Angela; Akman-Demir, Gulsen; Tüzün, Erdem

    2013-01-01

    To better characterize progressive encephalomyelitis with rigidity and myoclonus (PERM) syndrome and identify novel PERM phenotypes. The clinical features and antibody status of PERM patients were investigated using immunoblots, cell-based assays, RIA, protein macroarray and ELISA. Two patients with supratentorial involvement showed abnormal PET or EEG findings. One patient was discovered to have renal cell carcinoma, and protein macroarray revealed Ma3-antibodies. Another patient with leucine-rich, glioma-inactivated 1 (LGI1) and glutamic acid decarboxylase (GAD) antibodies showed a good response to immunotherapy. The heterogeneity of the immunological features suggests that PERM is caused by diverse pathogenic mechanisms. Seropositivity to well-characterized neuronal cell surface antigens might indicate a good treatment response. Copyright © 2013 S. Karger AG, Basel.

  5. Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophies.

    Science.gov (United States)

    Reinier, Frederic; Zoledziewska, Magdalena; Hanna, David; Smith, Josh D; Valentini, Maria; Zara, Ilenia; Berutti, Riccardo; Sanna, Serena; Oppo, Manuela; Cusano, Roberto; Satta, Rosanna; Montesu, Maria Antonietta; Jones, Chris; Cerimele, Decio; Nickerson, Deborah A; Angius, Andrea; Cucca, Francesco; Cottoni, Francesca; Crisponi, Laura

    2015-11-01

    Lipodystrophies are a large heterogeneous group of genetic or acquired disorders characterized by generalized or partial fat loss, usually associated with metabolic complications such as diabetes mellitus, hypertriglyceridemia and hepatic steatosis. Many efforts have been made in the last years in identifying the genetic etiologies of several lipodystrophy forms, although some remain to be elucidated. We report here the clinical description of a woman with a rare severe lipodystrophic and progeroid syndrome associated with hypertriglyceridemia and diabetes whose genetic bases have been clarified through whole-exome sequencing (WES) analysis. This article reports the 5th MDPL (Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome) patient with the same de novo p.S605del mutation in POLD1. We provided further genetic evidence that this is a disease-causing mutation along with a plausible molecular mechanism responsible for this recurring event. Moreover we overviewed the current classification of the inherited forms of lipodystrophy, along with their underlying molecular basis. Progress in the identification of lipodystrophy genes will help in better understanding the role of the pathways involved in the complex physiology of fat. This will lead to new targets towards develop innovative therapeutic strategies for treating the disorder and its metabolic complications, as well as more common forms of adipose tissue redistribution as observed in the metabolic syndrome and type 2 diabetes. Copyright © 2015 Elsevier Inc. All rights reserved.

  6. Oral features and dental health in Hurler Syndrome following hematopoietic stem cell transplantation.

    LENUS (Irish Health Repository)

    McGovern, Eleanor

    2012-02-01

    BACKGROUND: Hurler Syndrome is associated with a deficiency of a specific lysosomal enzyme involved in the degradation of glycosaminoglycans. Hematopoietic stem cell transplantation (HSCT) in early infancy is undertaken to help prevent the accumulation of glycosaminoglycans and improve organ function. AIM: To investigate the oral features and dental health of patients with Hurler Syndrome who have undergone successful HSCT. MATERIALS AND METHODS: Twenty-five patients (median age 8.6 years) post-HSCT (mean age 9.4 months) underwent oral assessment (mean of 7.5 years post-HSCT). RESULTS: Dental development was delayed. Numerous occlusal anomalies were noted including: open-bite, class III skeletal base, dental spacing, primary molar infra-occlusion and ectopic tooth eruption. Dental anomalies included hypodontia, microdontia, enamel defects, thin tapering canine crowns, pointed molar cusps, bulbous molar crowns and molar taurodontism. Tooth roots were usually short\\/blunted\\/spindle-like in permanent molars. The prevalence of dental caries was low in the permanent dentition (mean DMFT 0.7) but high in the primary dentition (mean dmft 2.4). Oral hygiene instruction with plaque and or calculus removal was indicated in 71% of those that were dentate. CONCLUSION: Patients with Hurler Syndrome post-HSCT are likely to have delayed dental development, a malocclusion, and dental anomalies, particularly hypodontia and microdontia.

  7. Incidence, Phenotypic Features and Molecular Genetics of Kallmann Syndrome in Finland

    Directory of Open Access Journals (Sweden)

    Tommiska Johanna

    2011-06-01

    Full Text Available Abstract Background Kallmann syndrome (KS, comprised of congenital hypogonadotropic hypogonadism (HH and anosmia, is a clinically and genetically heterogeneous disorder. Its exact incidence is currently unknown, and a mutation in one of the identified KS genes has only been found in ~30% of the patients. Methods Herein, we investigated epidemiological, clinical, and genetic features of KS in Finland. Results The minimal incidence estimate of KS in Finland was 1:48 000, with clear difference between males (1:30 000 and females (1:125 000 (p = 0.02. The reproductive phenotype of 30 probands (25 men; 5 women ranged from severe HH to partial puberty. Comprehensive mutation analysis of all 7 known KS genes (KAL1, FGFR1, FGF8, PROK2, PROKR2, CHD7, and WDR11 in these 30 well-phenotyped probands revealed mutations in KAL1 (3 men and FGFR1 (all 5 women vs. 4/25 men, but not in other genes. Conclusions Our results suggest that Finnish KS men harbor mutations in gene(s yet-to-be discovered with sex-dependent penetrance of the disease phenotype. In addition, some KS patients without CHD7 mutations display CHARGE-syndrome associated phenotypic features (e.g. ear or eye anomalies, possibly implying that, in addition to CHD7, there may be other genes associated with phenotypes ranging from KS to CHARGE.

  8. Clinical features, diagnostic criteria, and management of Coffin-Siris syndrome.

    Science.gov (United States)

    Vergano, Samantha S; Deardorff, Matthew A

    2014-09-01

    Coffin-Siris syndrome (OMIM#135900) is a multiple congenital anomaly syndrome classically characterized by hypo- or aplasia of the fifth digit nails or phalanges, as well as coarse facial features, sparse scalp hair, and moderate to severe cognitive and/or developmental delay. The recent identification of molecular etiologies has served to effectively characterize a large set of patients who have been described with Coffin-Siris between the time of its initial description and the present. However, despite recent advances, a number of patients who traditionally fit the diagnosis have yet to have identified causes. This could be due to patients who lie outside the defined phenotype, or alternatively, to additional as yet unidentified genes which may play roles. Here we outline the range of clinical features described in the broader diagnostic category, review the continuing phenotypic challenges and note those subsets of patients for whom molecular causes have yet to be clarified. Finally, we discuss recommendations for clinical management of these individuals. © 2014 Wiley Periodicals, Inc.

  9. Autonomic dysfunction is a major feature of cerebellar ataxia, neuropathy, vestibular areflexia 'CANVAS' syndrome.

    Science.gov (United States)

    Wu, Teddy Y; Taylor, Jennifer M; Kilfoyle, Dean H; Smith, Andrew D; McGuinness, Ben J; Simpson, Mark P; Walker, Elizabeth B; Bergin, Peter S; Cleland, James C; Hutchinson, David O; Anderson, Neil E; Snow, Barry J; Anderson, Tim J; Paermentier, Laura A F; Cutfield, Nick J; Chancellor, Andrew M; Mossman, Stuart S; Roxburgh, Richard H

    2014-10-01

    Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is a recently recognized neurodegenerative ganglionopathy. Prompted by the presence of symptomatic postural hypotension in two patients with CANVAS, we hypothesized that autonomic dysfunction may be an associated feature of the syndrome. We assessed symptoms of autonomic dysfunction and performed autonomic nervous system testing among 26 patients from New Zealand. After excluding three patients with diabetes mellitus, 83% had evidence of autonomic dysfunction; all patients had at least one autonomic symptom and 91% had more than two symptoms. We also found a higher rate of downbeat nystagmus (65%) than previously described in CANVAS. We confirmed that sensory findings on nerve conduction tests were consistent with a sensory ganglionopathy and describe two patients with loss of trigeminal sensation consistent with previous pathological descriptions of trigeminal sensory ganglionopathy. Our results suggest that autonomic dysfunction is a major feature of CANVAS. This has implications for the management of patients with CANVAS as the autonomic symptoms may be amenable to treatment. The findings also provide an important differential diagnosis from multiple system atrophy for patients who present with ataxia and autonomic failure. © The Author (2014). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  10. Photoanthropometric Study of Dysmorphic Features of the Face in Children with Autism and Asperger Syndrome

    Directory of Open Access Journals (Sweden)

    Katarzyna Ziora

    2012-04-01

    Full Text Available Objective: Childhood autism is a neurodevelopmental disorder characterized by impairments in social interactions, verbal and non-verbal communication and by a pattern of stereotypical behaviors and interests. The aim of this study was to estimate the dysmorphic facial features of children with autism and children with Asperger syndrome . Methods: The examination was conducted on 60 children (30 with childhood autism and 30 with Asperger syndrome. The photo anthropometric method used in this study followed the protocol established by Stengel-Rutkowski et al . Results: The performed statistical analysis showed that in patients with childhood autism, the anteriorly rotated ears and the long back of the nose appeared more often. In the group of children with autism, there was a connection between the amount of dysmorphies and the presence of some somatic diseases in the first-degree relatives. There was also a connection between the motor coordination and the age the child began to walk. Discussion: In patients with childhood autism, there were certain dysmorphies (like the anterior rotated ears and the long back of the nose which appeared more often. Although the connection was not statistically significant, it seemed to concur with data from the literature . Conclusion: Formulation of the other conclusions would require broader studies e.g. dealing with a familial analysis of dysmorphic features.

  11. Photoanthropometric study of dysmorphic features of the face in children with autism and asperger syndrome.

    Science.gov (United States)

    Gorczyca, Piotr; Kapinos-Gorczyca, Agnieszka; Ziora, Katarzyna; Oświęcimska, Joanna

    2012-01-01

    Childhood autism is a neurodevelopmental disorder characterized by impairments in social interactions, verbal and non-verbal communication and by a pattern of stereotypical behaviors and interests. The aim of this study was to estimate the dysmorphic facial features of children with autism and children with Asperger syndrome. The examination was conducted on 60 children (30 with childhood autism and 30 with Asperger syndrome). The photo anthropometric method used in this study followed the protocol established by Stengel-Rutkowski et al. The performed statistical analysis showed that in patients with childhood autism, the anteriorly rotated ears and the long back of the nose appeared more often. In the group of children with autism, there was a connection between the amount of dysmorphies and the presence of some somatic diseases in the first-degree relatives. There was also a connection between the motor coordination and the age the child began to walk. In patients with childhood autism, there were certain dysmorphies (like the anterior rotated ears and the long back of the nose) which appeared more often. Although the connection was not statistically significant, it seemed to concur with data from the literature. Formulation of the other conclusions would require broader studies e.g. dealing with a familial analysis of dysmorphic features.

  12. Ultrasound features in trisomy 13 (Patau syndrome) and trisomy 18 (Edwards syndrome) in a consecutive series of 47 cases.

    Science.gov (United States)

    Kroes, I; Janssens, S; Defoort, P

    2014-01-01

    To determine and list the variety of the predominant appeal signs leading to referral and their accompanying features found during specialized ultrasound evaluation in foetuses with trisomy 13 and trisomy 18. In a period of thirty years, 1110 cases of foetal malformations were detected during specialized echographic evaluation. 47 Of these cases were foetuses with trisomy 13 or trisomy 18. We evaluated the predominant signs leading to referral, the difference and overlap in presenting signs between both syndromes and when the data were available, we also compared the echographic signs with the foetal pathology. In foetuses with trisomy 13 the most common malformations were craniofacial defects, cerebral malformations and genitourinary tract anomalies. The most common malformations associated with trisomy 18 were limb abnormalities and intrauterine growth restriction. Most malformations were predominant in trisomy 18, except for genitourinary tract anomalies. In most cases the sonographic signs correlated with the pathology findings. Trisomy 13 as well as trisomy 18 are characterized by a number of various malformations in the foetus. Most of the ultrasound features were predominant in foetuses with trisomy 18. Mostly the foetal pathology correlated with the sonographic evaluation.

  13. [CONNECTIVE TISSUE METABOLIC FEATURES IN CLIMACTERIC SYNDROME'S PATIENTS WITH VARIOUS TYPES OF MENOPAUSE].

    Science.gov (United States)

    Gryshchenko, O; Vasylieva, I; Gryshchuk, K

    2017-04-01

    The purpose of the study was investigation of the connective tissue metabolic features among women with menopausal syndrome (MS) and MS, in which the arthropathic syndrome is leading and comparative analysis of the connective tissue indicators exchange during menopause caused in a surgical and natural way. We examined 70 women in total, menopause duration they accounted for 1,95±1,1 years, it came both as natural, and as a result of a surgery. The main group included 40 women with MS with leading arthropathic syndrome. The patients' modified menopausal index was calculated (MMI), the functional condition of the joints was assessed on a scale-questionnaire with the calculation of the clinical-functional index of WOMAC; the quantitative content and qualitative composition of glycosaminoglycans in the serum, the urinary excretion of hydroxyproline and uronic acids were determined. To determine the degree of deviation from the control (standard) indicators was used non-parametric Mann-Whitney criterion and factor analysis (main components method). It was revealed that all patients have an increased content of glycosaminoglycans and glycoprotein in the blood, which corresponds to the general age-related rearrangement of connective tissue metabolism, but the patients of the main group have more expressed indictors, which corresponds to more severe dystrophic changes and the severity of clinical symptoms. Redistribution of the fractional composition of glycosaminoglycans towards the increase of chondroitin-6 sulfate in patients of the main group indicates the presence of pre-emptive destruction of cartilage. The arthropathic syndrome availability also confirms the significant reduction CI-6s / CI-4s ratio and an increased content of chondroitin sulfates. Patients with a natural type of menopause showed more pronounced changes in connective tissue metabolites, in contrast to patients with surgical menopause еhat indicates a longer and more invasive pathologic course of

  14. 22q11 deletion syndrome: a review of the neuropsychiatric features and their neurobiological basis

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    Squarcione C

    2013-12-01

    Full Text Available Chiara Squarcione, Maria Chiara Torti, Fabio Di Fabio, Massimo Biondi Department of Neurology and Psychiatry, Sapienza University of Rome, Rome, Italy Abstract: The 22q11.2 deletion syndrome (22q11DS is caused by an autosomal dominant microdeletion of chromosome 22 at the long arm (q 11.2 band. The 22q11DS is among the most clinically variable syndromes, with more than 180 features related with the deletion, and is associated with an increased risk of psychiatric disorders, accounting for up to 1%–2% of schizophrenia cases. In recent years, several genes located on chromosome 22q11 have been linked to schizophrenia, including those encoding catechol-O-methyltransferase and proline dehydrogenase, and the interaction between these and other candidate genes in the deleted region is an important area of research. It has been suggested that haploinsufficiency of some genes within the 22q11.2 region may contribute to the characteristic psychiatric phenotype and cognitive functioning of schizophrenia. Moreover, an extensive literature on neuroimaging shows reductions of the volumes of both gray and white matter, and these findings suggest that this reduction may be predictive of increased risk of prodromal psychotic symptoms in 22q11DS patients. Experimental and standardized cognitive assessments alongside neuroimaging may be important to identify one or more endophenotypes of schizophrenia, as well as a predictive prodrome that can be preventively treated during childhood and adolescence. In this review, we summarize recent data about the 22q11DS, in particular those addressing the neuropsychiatric and cognitive phenotypes associated with the deletion, underlining the recent advances in the studies about the genetic architecture of the syndrome. Keywords: 22q11 deletion syndrome, microdeletion, neuropsychiatric disorders, cognitive impairments

  15. Night eating syndrome in class II-III obesity: metabolic and psychopathological features.

    Science.gov (United States)

    Calugi, S; Dalle Grave, R; Marchesini, G

    2009-08-01

    To investigate the relationship of metabolic disorders and psychological features with the night eating syndrome (NES) in individuals with moderate-to-severe obesity. Cross-sectional observation. A total of 266 consecutive participants with class II-III obesity, entering an inpatient weight loss program. Participants who reported consuming either a large amount of their caloric intake after the evening meal (roughly self-assessed as > or =25% of daily calories) or the presence of nocturnal feeding at the Night Eating Questionnaire (NEQ) (N=49) were interviewed by the Night Eating Syndrome History and Inventory (NESHI). Assessment also included the clinical/biochemical parameters of the metabolic syndrome and several questionnaires of psychopathology. NES was diagnosed by NESHI criteria (evening hyperphagia (> or =25% of daily food intake after the evening meal) and/or waking at night to eat at least three times a week) in the last 3 months. Twenty-seven participants (10.1%) met NESHI criteria. Differences were not observed between participants with and without NES as to age, body mass index (BMI), prevalence of metabolic syndrome, Binge Eating Scale and Body Shape Questionnaire. NES participants had significantly higher scores of Beck Depression Inventory (BDI) and Impact of Weight on Quality of Life (IWQOL). Among NES cases, the BDI score was indicative of moderate depression in 18.5% of cases and of severe depression in 44.4%. Logistic regression analysis, adjusted for confounders, identified the BDI score as the only variable significantly associated with the diagnosis of NES. Diagnosing NES does not help identify obese individuals with specific medical complications, but indicates more severe psychological distress and depression.

  16. Ortodoncia y ortopedia dentofacial en el síndrome de Down

    OpenAIRE

    Abeleira Pazos, Maite; Limeres Posse, Jacobo; Outumuro Rial, Mercedes

    2017-01-01

    Esta obra representa un amplio compendio de cómo es y qué posibilidades terapéuticas tiene el complejo dentofacial del síndrome de Down y resulta de una inestimable ayuda en la clínica y en la comprensión científica de la arquitectura craneofacial en situaciones normales y patológicas. El principal objetivo del libro es transmitir una combinación de experiencia clínica y evidencia científica en materia de ortodoncia para pacientes con necesidades especiales, confiando en que se traduzca en un...

  17. Effectiveness of circumoral muscle exercises in the developing dentofacial morphology in adenotonsillectomized children: An ultrasonographic evaluation

    Directory of Open Access Journals (Sweden)

    Das U

    2009-06-01

    Full Text Available Alterations in the functions of the facial muscle can establish changes in facial skeleton and in the development of occlusion. The effect of mouth breathing on the facial morphology is probably greatest during the growth period. Removal of nasal obstruction, adenoids, and tonsils have not given beneficial results in the reversion of the habit unless intercepted with various muscle exercises. Hence, this study was conducted to ultrasonographically evaluate the effectiveness of circumoral muscle exercises in the developing dentofacial morphology in adenotonsillectomized children.

  18. A Severe and Rapidly Progressive Case of Proteus Syndrome in a Neonate Who Presented with Unilateral Hydrocephalus Apart from Other Typical Features of the Proteus Syndrome

    Science.gov (United States)

    Kumar, Rakesh; Bhagat, Puja

    2012-01-01

    Proteus syndrome is a rare hamartomatous disorder affecting multiple tissues and manifesting itself in a variety of ways. The understanding of the complete spectrum of clinical features, the natural clinical course of the disease and the proper management of such a rare but highly variable syndrome depend heavily on experiences gathered by previously reported cases. We present an unusually severely affected and rapidly progressive case of proteus syndrome in a neonate who presented with craniofacial hemihypertrophy, subcutaneous masses, capillary hemangioma, varicose veins, epidermal nevi and macrodactyly. The cranial ultrasonogram revealed unilateral hydrocephalus with partial obstruction of the foramen of monro. PMID:24027714

  19. Solitary rectal ulcer syndrome: clinical features, pathophysiology, diagnosis and treatment strategies.

    Science.gov (United States)

    Zhu, Qing-Chao; Shen, Rong-Rong; Qin, Huan-Long; Wang, Yu

    2014-01-21

    Solitary rectal ulcer syndrome (SRUS) is an uncommon benign disease, characterized by a combination of symptoms, clinical findings and histological abnormalities. Ulcers are only found in 40% of the patients; 20% of the patients have a solitary ulcer, and the rest of the lesions vary in shape and size, from hyperemic mucosa to broad-based polypoid. Men and women are affected equally, with a small predominance in women. SRUS has also been described in children and in the geriatric population. Clinical features include rectal bleeding, copious mucus discharge, prolonged excessive straining, perineal and abdominal pain, feeling of incomplete defecation, constipation, and rarely, rectal prolapse. This disease has well-described histopathological features such as obliteration of the lamina propria by fibrosis and smooth muscle fibers extending from a thickened muscularis mucosa to the lumen. Diffuse collage deposition in the lamina propria and abnormal smooth muscle fiber extensions are sensitive markers for differentiating SRUS from other conditions. However, the etiology remains obscure, and the condition is frequently associated with pelvic floor disorders. SRUS is difficult to treat, and various treatment strategies have been advocated, ranging from conservative management to a variety of surgical procedures. The aim of the present review is to summarize the clinical features, pathophysiology, diagnostic methods and treatment strategies associated with SRUS.

  20. Neuroendocrine markers and psychological features in patients with irritable bowel syndrome.

    Science.gov (United States)

    Stasi, Cristina; Bellini, Massimo; Costa, Francesco; Mumolo, Maria Gloria; Ricchiuti, Angelo; Grosso, Mariano; Duranti, Emiliano; Metelli, Maria Rosaria; Gambaccini, Dario; Bianchi, Lea; Di Tanna, Gian Luca; Laffi, Giacomo; Taddei, Stefano; Marchi, Santino

    2013-09-01

    The key role of the brain-gut axis in the pathophysiology of irritable bowel syndrome (IBS) has been recognized. The aim of this study was to assess the possible association between IBS, neuroendocrine markers, and psychological features. One hundred and twenty-five consecutive IBS patients and 105 healthy subjects were enrolled. Plasma serotonin, plasma and urinary cortisol, and plasma neuropeptide Y levels were evaluated. All patients were given a questionnaire to assess IBS symptom severity. In 66 patients, a psychodiagnostic assessment was carried out. A high incidence of specific psychological features, including state anxiety (69.69 %), trait anxiety (54.54 %), obsessions and compulsions (28.78 %), was observed in IBS patients. A positive correlation between neuropeptide Y and state anxiety (r = 0.287, p = 0.024) and simulation/social ingenuity (r = 0.269, p = 0.039) was found in these patients. In diarrhea-predominant IBS, plasma cortisol was linearly related to plasma serotonin (r = 0.5663, p < 0.001). In IBS patients, a significant correlation was found between specific psychological features and neuroendocrine markers, especially plasma cortisol and neuropeptide Y; in diarrhea-predominant IBS, a correlation between plasma cortisol and serotonin was found, although it needs to be confirmed in more extensive cohorts.

  1. Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica

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    Ariana Kariminejad

    2017-03-01

    Full Text Available Cutis laxa is a heterogeneous condition characterized by redundant, sagging, inelastic, and wrinkled skin. The inherited forms of this disease are rare and can have autosomal dominant, autosomal recessive, or X-linked inheritance. Three of the autosomal recessive cutis laxa syndromes, namely cutis laxa IIA (ARCL2A, cutis laxa IIB (ARCL2B, and geroderma osteodysplastica (GO, have very similar clinical features, complicating accurate diagnosis. Individuals with these conditions often present with cutis laxa, progeroid features, and hyperextensible joints. These conditions also share additional features, such as short stature, hypotonia, and congenital hip dislocation, but the severity and frequency of these findings are variable in each of these cutis laxa syndromes. The characteristic features for ARCL2A are abnormal isoelectric focusing and facial features, including downslanting palpebral fissures and a long philtrum. Rather, the clinical phenotype of ARCL2B includes severe wrinkling of the dorsum of the hands and feet, wormian bones, athetoid movements, lipodystrophy, cataract and corneal clouding, a thin triangular face, and a pinched nose. Normal cognition and osteopenia leading to pathological fractures, maxillary hypoplasia, and oblique furrowing from the outer canthus to the lateral border of the supraorbital ridge are discriminative features for GO. Here we present 10 Iranian patients who were initially diagnosed clinically using the respective features of each cutis laxa syndrome. Each patient’s clinical diagnosis was then confirmed with molecular investigation of the responsible gene. Review of the clinical features from the cases reported from the literature also supports our conclusions.

  2. Glycine receptor antibodies in PERM and related syndromes: characteristics, clinical features and outcomes

    Science.gov (United States)

    Carvajal-González, Alexander; Leite, M. Isabel; Waters, Patrick; Woodhall, Mark; Coutinho, Ester; Balint, Bettina; Lang, Bethan; Pettingill, Philippa; Carr, Aisling; Sheerin, Una-Marie; Press, Raomand; Lunn, Michael P.; Lim, Ming; Maddison, Paul; Meinck, H.-M.; Vandenberghe, Wim

    2014-01-01

    The clinical associations of glycine receptor antibodies have not yet been described fully. We identified prospectively 52 antibody-positive patients and collated their clinical features, investigations and immunotherapy responses. Serum glycine receptor antibody endpoint titres ranged from 1:20 to 1:60 000. In 11 paired samples, serum levels were higher than (n = 10) or equal to (n = 1) cerebrospinal fluid levels; there was intrathecal synthesis of glycine receptor antibodies in each of the six pairs available for detailed study. Four patients also had high glutamic acid decarboxylase antibodies (>1000 U/ml), and one had high voltage-gated potassium channel-complex antibody (2442 pM). Seven patients with very low titres (antibodies activated complement on glycine receptor-transfected human embryonic kidney cells at room temperature, and caused internalization and lysosomal degradation of the glycine receptors at 37°C. Immunoglobulin G antibodies bound to rodent spinal cord and brainstem co-localizing with monoclonal antibodies to glycine receptor-α1. Ten glycine receptor antibody positive samples were also identified in a retrospective cohort of 56 patients with stiff person syndrome and related syndromes. Glycine receptor antibodies are strongly associated with spinal and brainstem disorders, and the majority of patients have progressive encephalomyelitis with rigidity and myoclonus. The antibodies demonstrate in vitro evidence of pathogenicity and the patients respond well to immunotherapies, contrasting with earlier studies of this syndrome, which indicated a poor prognosis. The presence of glycine receptor antibodies should help to identify a disease that responds to immunotherapies, but these treatments may need to be sustained, relapses can occur and maintenance immunosuppression may be required. PMID:24951641

  3. The reflectance confocal microscopy features of sebaceous adenoma in a case of Muir Torre syndrome

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    Esma İnan Yüksel

    2015-03-01

    Full Text Available Muir-Torre syndrome (MTS is a rare autosomal dominant genodermatosis characterized by the occurrence of sebaceous gland neoplasms and/or keratoacanthomas associated with visceral malignancies. It is considered as a subtype of hereditary nonpolyposis colorectal cancer syndrome. Characteristic sebaceous gland neoplasms include sebaceous adenoma, sebaceous carcinoma, sebaceoma, and keratoacanthoma with sebaceous differentiation. The most common visceral malignancies are colorectal and genitourinary tumors. CASE: A 47year-old male patient admitted to our clinic complaining of two lesions on the nose. Dermatological examination revealed a plaque in 1 cm diameter consisting of bright yellowish-white coloured papules with slightly umblicated appearance and telangiectasias on the left site of the nose and had a dome shaped papule in 3 mm diameter with hyperkeratotic plug on the tip of the nose. He had personal history of partial colon resection because of colon cancer and familial Lynch 2 syndrome. On dermoscopic examination of sebaceous adenoma, a few yellow comedo-like globules and branching arborizing vessels were detected. Reflectance confocal microscopy (RCM revealed a good histopathologic correlation. Sebaceous lobules were composed by clusters of ovoid cells with hyporefractile dark nuclei and bright, hyperrefractile glistening cytoplasm. Numerous roundish to ovoid dark spaces corresponding to sebaceous ducts were detected. The diagnosis of MTS was established based on the personal and family history, dermoscopic, RCM and histopathologic findings. CONCLUSIONS: MTS evaluation is required in patients with biopsy-proven sebaceous adenoma. Early diagnosis may be lifesaving in patients with MTS. A better characterization of RCM features of sebaceous tumors will allow early diagnosis of the patients with MTS.

  4. Meglumine exerts protective effects against features of metabolic syndrome and type II diabetes.

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    Arturo Bravo-Nuevo

    Full Text Available Metabolic syndrome, diabetes and diabetes complications pose a growing medical challenge worldwide, accentuating the need of safe and effective strategies for their clinical management. Here we present preclinical evidence that the sorbitol derivative meglumine (N-methyl-D-glucamine can safely protect against several features of metabolic syndrome and diabetes, as well as elicit enhancement in muscle stamina. Meglumine is a compound routinely used as an approved excipient to improve drug absorption that has not been ascribed any direct biological effects in vivo. Normal mice (SV129 administered 18 mM meglumine orally for six weeks did not display any gastrointestinal or other observable adverse effects, but had a marked effect on enhancing muscle stamina and at longer times in limiting weight gain. In the established KK.Cg-Ay/J model of non-insulin dependent diabetes, oral administration of meglumine significantly improved glycemic control and significantly lowered levels of plasma and liver triglycerides. Compared to untreated control animals, meglumine reduced apparent diabetic nephropathy. Sorbitol can improve blood glucose uptake by liver and muscle in a manner associated with upregulation of the AMPK-related enzyme SNARK, but with undesirable gastrointestinal side effects not seen with meglumine. In murine myoblasts, we found that meglumine increased steady-state SNARK levels in a dose-dependent manner more potently than sorbitol. Taken together, these findings provide support for the clinical evaluation of meglumine as a low-cost, safe supplement offering the potential to improve muscle function, limit metabolic syndrome and reduce diabetic complications.

  5. Dentofacial growth changes in subjects with untreated Class II malocclusion from late puberty through young adulthood.

    Science.gov (United States)

    Baccetti, Tiziano; Stahl, Franka; McNamara, James A

    2009-02-01

    The purpose of this longitudinal study was to compare dentofacial growth changes in untreated subjects with Class II Division 1 malocclusion with those in subjects with normal (Class I) occlusion from late puberty through young adulthood. The Class II Division 1 sample consisted of 23 subjects (10 male, 13 female). The Class I sample included 30 subjects (13 male, 17 female). The lateral cephalograms of the subjects in both groups were analyzed at 2 consecutive stages of development: T1, postpubertal observation (cervical vertebral maturation stage 6), and T2, young adulthood stage. The average time between T1 and T2 was 3.5 years. The statistical comparisons of the growth changes in the 2 groups were performed with Mann-Whitney U tests. From late puberty through young adulthood, dentofacial growth in subjects with untreated Class II malocclusion does not show significant differences when compared with that observed in untreated subjects with normal occlusion. These findings show that Class II dentoskeletal disharmony does not exhibit significant growth change from late puberty through young adulthood.

  6. [Clinicofunctional features of arterial hypertension in chronic broncho-obstructive syndrome].

    Science.gov (United States)

    Zadionchenko, V S; Kuz'micheva, N V; Sviridov, A A; Ol'kha, R P; Kashcheeva, E V

    2000-01-01

    To describe clinicofunctional features of essential and pulmogenic hypertension in chronic bronchoobstructive syndrome, 24-h profile of arterial pressure (AP), intracardiac hemodynamics and to propose differential diagnostic criteria for these hypertension forms. 24-h monitoring of arterial pressure (MAP), cardiohemodynamics, external respiration function (ERF) and blood gases examinations were made in 100 hypertensive subjects with chronic obstructive bronchitis and bronchial asthma. Significant differences were found between the groups of essential and pulmogenic hypertension by major values of MAP, echo-CG and ERF. Early disturbances in diastolic function of both the ventricles in essential and pulmonary hypertension in chronic bronchial obstruction arise long before clinical, x-ray and ECG signs of chronic pulmonary heart. The findings enable formulation of criteria of differential diagnosis of essential and pulmogenic hypertension and identify the latter as an independent nosological entity.

  7. GENDER FEATURES OF INTERACTION HORMONAL ACTIVITY ADIPOSE TISSUE AND PROINFLAMMATORY STATUS IN HYPERTENSION WITH METABOLIC SYNDROME

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    I. D. Bespalova

    2014-01-01

    Full Text Available Objective: research gender features of relationship of hormonal activity of adipose tissue and proinflammatory status with essential hypertension (EH in combination with metabolic syndrome (MS.Material and methods. Were examined 46 patients with essential hypertension stage (BP < 180/110 mm Hg. in conjunction with the metabolic syndrome. Along with a complete clinical, laboratory and instrumental examination adopted in specialized cardiological clinic, were defined concentrations in serum leptin, adiponectin, resistin and visfatin and the level of markers of systemic inflammation (C-reactive protein, neopterin and fibrinogen, was assessed the level of spontaneous production of cytokines and active oxygen species and the expression level of CD4, CD8 and CD36 – blood mononuclear leukocytes markers.Results and conclusions. It was established that the hormonal status of adipose tissue have women with EH combined with MS are characterized by higher levels of leptin and adiponectin in blood serum than in men.It was established not only a significant role adipokin imbalance in mechanisms of MS and systemic inflammation in these patients category, but also were studied gender characteristics. While for men in the development of the above pathological manifestations hipoadiponektinemia has the most meaning, and for women – hyperleptinemia.

  8. Motivation sphere features of patients with psychoendocrine syndrome on the background of hypogonadism

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    V.V. Ischuk,

    2017-08-01

    Full Text Available Background. Psychoneuroendocrinology is the clinical study of hormone fluctuations and their relationship to human behavior. It may be viewed from the perspective of psychiatry, where in certain mood disorders, there are associated neuroendocrine or hormonal changes affecting the brain. It may also be viewed from the perspective of endocrinology, where certain endocrine disorders can be associated with psychiatric illness. This complex blend of psychiatry, neurology and endocrinology is needed to comprehensively understand and treat psychiatric illnesses. The purpose of work was to determine particular motivational-volitional features of patients with psychoendocrine syndrome on the background of hypogonadism in 100 patients in Ukrainian Scientific-Practical Center of Endocrine Surgery, Transplantation of Endocrine Organs and Tissues of Ministry of Health of Ukraine. Materials and methods. Patients were examined using the Buss — Durkee test (Buss — Durkee Hostility Inventory, A.H. Buss, A. Durkee, 1957, BDHI and Plutchik impulsivity scale (Impulsiveness Scale, R. Plutchik, H. M. van Praag, 1989, IS. Results. The study defined a clinical-psychopathological structure of impulsivity in patients with psychoendocrine syndrome on the background of hypogonadism. In patients with moderate compensation hormonal status evasion-vicarious and disprosective correlates of impulsive behaviors prevail. In the decompensation state thymic labile and disretentive correlates prevail. Conclusions. It was found statistically significant predominance of the intensity of aggressive reaction forms among patients with hypogonadism in decompensated state (mediated by the phenomena of aggression, irritability, negativism, resentment, verbal aggression and guilt.

  9. Richter syndrome in chronic lymphocytic leukemia: updates on biology, clinical features and therapy.

    Science.gov (United States)

    Jamroziak, Krzysztof; Tadmor, Tamar; Robak, Tadeusz; Polliack, Aaron

    2015-07-01

    Richter syndrome (RS) or Richter transformation is the development of secondary aggressive lymphoma in the setting of underlying chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL). Most frequently CLL transforms into diffuse large B-cell lymphoma (DLBCL) (90%) and rarely (10%) into Hodgkin lymphoma, termed Hodgkin variant of Richter syndrome (HvRS). RS is generally characterized by an aggressive clinical course and poor prognosis. In recent years, major advances have been made in understanding genetic events which relate to the progression of CLL or transformation into RS. Better understanding of the molecular pathways has revealed that RS is not a single homogeneous entity. The majority of cases are clonally related to the original CLL clone, while a minority develop from an unrelated clone. This review summarizes new data relating to the molecular biology and the genetic/epigenetic changes occurring during Richter transformation, and also considers the clinical features and therapy for both DLBCL-RS and Hodgkin variant-RS.

  10. Small fiber neuropathy is a common feature of Ehlers-Danlos syndromes

    Science.gov (United States)

    Cazzato, Daniele; Castori, Marco; Lombardi, Raffaella; Caravello, Francesca; Bella, Eleonora Dalla; Petrucci, Antonio; Grammatico, Paola; Dordoni, Chiara; Colombi, Marina

    2016-01-01

    Objective: To investigate the involvement of small nerve fibers in Ehlers-Danlos syndrome (EDS). Methods: Patients diagnosed with EDS underwent clinical, neurophysiologic, and skin biopsy assessment. We recorded sensory symptoms and signs and evaluated presence and severity of neuropathic pain according to the Douleur Neuropathique 4 (DN4) and ID Pain questionnaires and the Numeric Rating Scale (NRS). Sensory action potential amplitude and conduction velocity of sural nerve was recorded. Skin biopsy was performed at distal leg and intraepidermal nerve fiber density (IENFD) obtained and referred to published sex- and age-adjusted normative reference values. Results: Our cohort included 20 adults with joint hypermobility syndrome/hypermobility EDS, 3 patients with vascular EDS, and 1 patient with classic EDS. All except one patient had neuropathic pain according to DN4 and ID Pain questionnaires and reported 7 or more symptoms at the Small Fiber Neuropathy Symptoms Inventory Questionnaire. Pain intensity was moderate (NRS ≥4 and <7) in 8 patients and severe (NRS ≥7) in 11 patients. Sural nerve conduction study was normal in all patients. All patients showed a decrease of IENFD consistent with the diagnosis of small fiber neuropathy (SFN), regardless of the EDS type. Conclusions: SFN is a common feature in adults with EDS. Skin biopsy could be considered an additional diagnostic tool to investigate pain manifestations in EDS. PMID:27306637

  11. A Case of Gorlin-Goltz Syndrome Presented with Psychiatric Features

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    Amir Mufaddel

    2014-01-01

    Full Text Available We report a case of a 34-year-old male who presented with an acute onset of pleomorphic psychiatric features. Upon examination we later diagnosed him with Gorlin-Goltz syndrome based on clinical and radiological findings that are characteristic for this rare autosomal dominant syndrome. His psychiatric manifestations included irritability, aggressive behavior, labile mood, hallucinations, paranoid delusions, and transient cognitive impairment. His past history indicated surgical excision of pigmented lesion in the left lower eyelid which turned out to be a basal cell carcinoma. His past visits to dermatology clinics indicated pitted keratosis involving hands, callosities, and seborrheic dermatitis. There were numerous palmar pits, and Brain CT Head scan revealed extensive calcification along falx cerebri and around the cerebellar vermis. He had low (20 ng/L vitamin D level and high parathyroid hormone level. The patient improved using antipsychotic medications and vitamin D supplementations for symptomatic management and was discharged with a plan for multispecialty outpatient follow-up. This case highlights the importance of considering rare organic etiologies in the differential diagnosis of patients presenting with psychiatric symptoms. This is of vital importance for early intervention to prevent complications and for better outcomes of the coexistent diseases.

  12. The immunobiology and clinical features of type 1 autoimmune polyglandular syndrome (APS-1).

    Science.gov (United States)

    Guo, Can-Jie; Leung, Patrick S C; Zhang, Weici; Ma, Xiong; Gershwin, M Eric

    2018-01-01

    Autoimmune Polyglandular Syndrome type 1 (APS-1) is a subtype of the autoimmune polyendocrine syndrome characterized by the simultaneous or sequential dysfunction of multiple endocrine or non-endocrine glands. A clinical diagnosis of APS-1 is typically based on the presence of at least two of three following criteria: chronic mucocutaneous candidiasis, hypoparathyroidism and adrenal insufficiency. The first identified causative mutated gene for APS-1 is autoimmune regulator (AIRE) encoding a critical transcription factor, which is primarily expressed in the medullary thymic epithelial cells (mTECs) for generating central immune tolerance. A wide range of chronic, debilitating complications, with no obvious correlation with genetics, makes a diagnosis of APS-1 challenging early in the disease course. Managing APS-1 is difficult due to its complexity, especially the intricate relationships within manifestations and genetic mutations. The past decades have witnessed dramatic progress in elucidating the function of AIRE and conducting large-scale cohort studies in APS-1. However, no clear evidence-based guidelines have been established in APS-1. In this review, we provide a detailed critical overview of the study history, epidemiology, clinical features, and related mechanisms of autoimmunity in APS-1, as well as currently available therapies for this autoimmune disorder. Copyright © 2017 Elsevier B.V. All rights reserved.

  13. Overlap of clinical features of Smith-Magenis & Down Syndrome in newborns and infants

    Energy Technology Data Exchange (ETDEWEB)

    Thomson, K.A.; Finucane, B.M.; Bauer, M.S. [Integrated Genetics, West Paterson, NJ (United States)] [and others

    1994-09-01

    Smith-Magenis Syndrome (SMS) frequently goes unrecognized in newborns and infants as these patients do not yet demonstrate the characteristic behavioral phenotype and may only present with developmental delay and physical dysmorphism. Six of Hall`s ten cardinal features of trisomy 21 in the newborn are also frequently found in newborns with SMS, leading to an early presumptive diagnosis of DS in many of these patients. CASE No. 1: Based on clinical findings, a presumptive diagnosis of DS was given to the patient in the newborn period. Chromosome analysis of peripheral blood revealed a normal 46,XX karyotype. Given this result, the possibility of mosaic DS was raised, and a skin fibroblast study done. Again, the karyotype was reported as normal. Clinical features and cytogenetic analysis confirmed a diagnosis of SMS when the patient was 8 years old. CASE No. 2: A presumptive diagnosis of DS was made in an infant with hypotonia, facial dysmorphisms and congenital heart defects. A routine chromosome analysis was ordered, which revealed a 46,XY,del(17)(p11.2p11.2) karyotype. Indeed, approximately 38% of blood samples referred to our laboratory to rule out DS in an infant failed to demonstrate trisomy for chromosome 21. Given the high degree of clinical overlap with Down Syndrome, the diagnosis of SMS should be considered in all such patients. Additional analysis should be done to look for deletion 17p11.2 when faced with a {open_quotes}normal{close_quotes} karyotype in an infant referred to rule out DS.

  14. Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome.

    Directory of Open Access Journals (Sweden)

    Jill A Rosenfeld

    Full Text Available Recurrent deletions of 2q32q33 have recently been reported as a new microdeletion syndrome. Clinical features of this syndrome include severe mental retardation, growth retardation, dysmorphic features, thin and sparse hair, feeding difficulties and cleft or high palate. The commonly deleted region contains at least seven genes. Haploinsufficiency of one of these genes, SATB2, a DNA-binding protein that regulates gene expression, has been implicated as causative in the cleft or high palate of individuals with 2q32q33 microdeletion syndrome. In this study we describe three individuals with smaller microdeletions of this region, within 2q33.1. The deletions ranged in size from 173.1 kb to 185.2 kb and spanned part of SATB2. Review of clinical records showed similar clinical features among these individuals, including severe developmental delay and tooth abnormalities. Two of the individuals had behavioral problems. Only one of the subjects presented here had a cleft palate, suggesting reduced penetrance for this feature. Our results suggest that deletion of SATB2 is responsible for several of the clinical features associated with 2q32q33 microdeletion syndrome.

  15. MRI features of posterior ankle impingement syndrome in ballet dancers: a review of 25 cases

    Energy Technology Data Exchange (ETDEWEB)

    Peace, K.A.L. E-mail: kalpeace@hotmail.com; Hillier, J.C.; Hulme, A.; Healy, J.C

    2004-11-01

    AIM: To describe the magnetic resonance imaging (MRI) features of posterior ankle impingement syndrome (PAIS) in classical ballet dancers. MATERIALS AND METHODS: A retrospective review was undertaken of 25 MRI examinations of the ankle performed on 23 ballet dancers over a 26-month period. Images were examined for the presence of osseous and soft-tissue anatomical variants at the posterior ankle and imaging signs of PAIS. All patients presented with symptoms and signs suggestive of PAIS including posterior ankle pain, swelling and stiffness during plantar flexion. RESULTS: Anatomical variants predisposing to PAIS including as os trigonum and tuberosity arising from the superior calcaneum were clearly depicted. The most common imaging feature of PAIS in our series was high T2 signal posterior to the talocalcaneal joint indicating synovitis (n=25). Thickening of the posterior capsule (n=13) and tenosynovitis of flexor hallucis longus (n=17) were also common. An os trigonum was an infrequent finding (n=7). Bone marrow oedema, commonly in the posterior talus (n=10) or in a patchy distribution (n=10) was often noted. CONCLUSION: MRI is a useful diagnostic tool in PAIS, and in the present series, clearly demonstrates the anatomical variants and range of osseous and soft-tissue abnormalities associated with this condition. Prospective studies are needed to understand the significance and importance of individual MRI findings in producing the symptoms of PAIS.

  16. Headache as a presenting feature in patients with serotonin syndrome: a case series.

    Science.gov (United States)

    Prakash, Sanjay; Belani, Pooja; Trivedi, Aditi

    2014-02-01

    Serotonin syndrome (SS) is a drug-induced constellation of various clinical features that result from excess central serotonergic tone. The clinical features range from barely perceptible to life-threatening conditions. We describe four patients with acute headache (four days to three weeks) who were receiving serotonergic drugs for other indications. There was a temporal relation between the administration of the serotonergic drugs and the development of the headaches. All four patients fulfilled the Hunter Serotonin Toxicity Criteria for SS. In parallel, two patients fulfilled the Sternbach's criteria for SS. Discontinuation of the serotonergic drugs and the administration of cyprohepatadine led to complete improvement in three to seven days in all four patients. A review of the literature suggests that some overlaps exist in the pathophysiology between SS and headache disorders, including medication-overuse headache. The overlap is also in the management. The drugs found to be effective in SS (cyproheptadine, chlorpromazine, olanzapine, etc.) are also known to have positive effects on some headache disorders. Physicians should consider the diagnosis of SS in patients with new onset or worsening headache after the addition of serotonergic drugs, especially in the presence of objective signs on examination suggestive of the disorder such as tremor, fever, hyperreflexia, diaphoresis or tachycardia.

  17. Effects of dietary polyphenols on metabolic syndrome features in humans: a systematic review.

    Science.gov (United States)

    Amiot, M J; Riva, C; Vinet, A

    2016-07-01

    Dietary polyphenols constitute a large family of bioactive substances potential beneficial effect on metabolic syndrome (MetS). This review summarizes the results of clinical studies on patients with MetS involving the chronic supplementation of a polyphenol-rich diet, foods, extracts or with single phenolics on the features of MetS (obesity, dyslipidemia, blood pressure and glycaemia) and associated complications (oxidative stress and inflammation). Polyphenols were shown to be efficient, especially at higher doses, and there were no specific foods or extracts able to alleviate all the features of MetS. Green tea, however, significantly reduced body mass index and waist circumference and improved lipid metabolism. Cocoa supplementation reduced blood pressure and blood glucose. Soy isoflavones, citrus products, hesperidin and quercetin improved lipid metabolism, whereas cinnamon reduced blood glucose. In numerous clinical studies, antioxidative and anti-inflammatory effects were not significant after polyphenol supplementation in patients with MetS. However, some trials pointed towards an improvement of endothelial function in patients supplemented with cocoa, anthocyanin-rich berries, hesperidin or resveratrol. Therefore, diets rich in polyphenols, such as the Mediterranean diet, which promote the consumption of diverse polyphenol-rich products could be an effective nutritional strategy to improve the health of patients with MetS. © 2016 The Authors. Obesity Reviews published by John Wiley & Sons Ltd on behalf of World Obesity. © 2016 The Authors. Obesity Reviews published by John Wiley & Sons Ltd on behalf of World Obesity.

  18. Major-locus contributions to variability of the craniofacial feature dystopia canthorum in Waardenburg syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Reynolds, J.E.; Meyer, J.M.; Stevens, C.A. [Virginia Commonwealth Univ., Richmond, VA (United States)] [and others

    1996-02-01

    We used segregation analysis to investigate the genetic basis of variation in dystopia canthorum, one of the key diagnostic features of Waardenburg syndrome type 1 (WS1). We sought to determine whether the W-index, a quantitative measure of this craniofacial feature, is influenced primarily either by allelic variation in the PAX3 disease gene or other major loci, by polygenic background effects, or by all of these potential sources of genetic variation. We studied both WS1-affected individuals and their WS1-unaffected relatives. After adjustment of the W-index for WS1 disease status, segregation analyses by the regression approach indicated major-locus control of this variation, although residual parent-offspring and sib-sib correlations are consistent with additional (possibly polygenic) effects. Separate analyses of WS1-affected and WS1-unaffected individuals suggest that epistatic interactions between disease alleles at the PAX3 WS1 locus and a second major locus influence variation in dystopia canthorum. Our approach should be applicable for assessing the genetic architecture of variation associated with other genetic diseases. 23 refs., 1 fig., 6 tabs.

  19. Hepatic sinusoidal obstruction syndrome caused by herbal medicine: CT and MRI features

    International Nuclear Information System (INIS)

    Zhou, Hua; Lou, Hai Yan; Wang, Yi Xiang J.; Xu, Xiao Jun; Zhang, Min Ming

    2014-01-01

    To describe the CT and MRI features of hepatic sinusoidal obstruction syndrome (HSOS) caused by herbal medicine Gynura segetum. The CT and MRI features of 16 consecutive Gynura segetum induced HSOS cases (12 men, 4 women) were analyzed. Eight patients had CT; three patients had MRI, and the remaining five patients had both CT and MRI examinations. Based on their clinical presentations and outcomes, the patients were classified into three categories: mild, moderate, and severe. The severity of the disease was also evaluated radiologically based on the abnormal hepatic patchy enhancement in post-contrast CT or MRI images. Ascites, patchy liver enhancement, and main right hepatic vein narrowing or occlusion were present in all 16 cases. Hepatomegaly and gallbladder wall thickening were present in 14 cases (87.5%, 14/16). Periportal high intensity on T2-weighted images was present in 6 cases (75%, 6/8). Normal liver parenchymal enhancement surrounding the main hepatic vein forming a clover-like sign was observed in 4 cases (25%, 4/16). The extent of patchy liver enhancement was statistically associated with clinical severity classification (kappa = 0.565). Ascites, patchy liver enhancement, and the main hepatic veins narrowing were the most frequent signs of herbal medicine induced HSOS. The grade of abnormal patchy liver enhancement was associated with the clinical severity.

  20. Hepatic sinusoidal obstruction syndrome caused by herbal medicine: CT and MRI features

    Energy Technology Data Exchange (ETDEWEB)

    Zhou, Hua; Lou, Hai Yan [Dept. of Radiology, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou (China); Wang, Yi Xiang J. [Dept. of Radiology, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou (China); Xu, Xiao Jun; Zhang, Min Ming [Dept. of Radiology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou (China)

    2014-04-15

    To describe the CT and MRI features of hepatic sinusoidal obstruction syndrome (HSOS) caused by herbal medicine Gynura segetum. The CT and MRI features of 16 consecutive Gynura segetum induced HSOS cases (12 men, 4 women) were analyzed. Eight patients had CT; three patients had MRI, and the remaining five patients had both CT and MRI examinations. Based on their clinical presentations and outcomes, the patients were classified into three categories: mild, moderate, and severe. The severity of the disease was also evaluated radiologically based on the abnormal hepatic patchy enhancement in post-contrast CT or MRI images. Ascites, patchy liver enhancement, and main right hepatic vein narrowing or occlusion were present in all 16 cases. Hepatomegaly and gallbladder wall thickening were present in 14 cases (87.5%, 14/16). Periportal high intensity on T2-weighted images was present in 6 cases (75%, 6/8). Normal liver parenchymal enhancement surrounding the main hepatic vein forming a clover-like sign was observed in 4 cases (25%, 4/16). The extent of patchy liver enhancement was statistically associated with clinical severity classification (kappa = 0.565). Ascites, patchy liver enhancement, and the main hepatic veins narrowing were the most frequent signs of herbal medicine induced HSOS. The grade of abnormal patchy liver enhancement was associated with the clinical severity.

  1. Severe myoclonic epilepsy of infancy (Dravet syndrome: Clinical and genetic features of nine Turkish patients

    Directory of Open Access Journals (Sweden)

    Meral Özmen

    2011-01-01

    Full Text Available Purpose: Mutations of the a-1 subunit sodium channel gene (SCN1A cause severe myoclonic epilepsy of infancy (SMEI. To date, over 300 mutations related to SMEI have been described. In the present study, we report new SCN1A mutations and the clinical features of SMEI cases. Materials and Methods: We studied the clinical and genetic features of nine patients diagnosed with SMEI at the Pediatric Neurology Department of Istanbul Medical Faculty. Results: Five patients had nonsense mutations, two had missense mutations, one had a splice site mutation and one had a deletion mutation of the SCN1A gene. Mutations at c.3705+5G splice site, p.trip153X nonsense mutation and deletion at c.2416_2946 have not been previously described. The seizures started following whole cell pertussis vaccination in all patients. The seizures ceased in one patient and continued in the other eight patients. Developmental regression was severe in three patients, with frequent status epilepticus. The type of mutation was not predictive for the severity of the disease. Two of the three patients with severe regression had nonsense and missense mutations. Conclusions : Dravet syndrome can be result of several different types of mutation in SCN1A gene. Onset of the seizures after pertussis vaccination is an important clue for the diagnosis and neuro- developmental delay should be expected in all patients.

  2. MRI features of posterior ankle impingement syndrome in ballet dancers: a review of 25 cases

    International Nuclear Information System (INIS)

    Peace, K.A.L.; Hillier, J.C.; Hulme, A.; Healy, J.C.

    2004-01-01

    AIM: To describe the magnetic resonance imaging (MRI) features of posterior ankle impingement syndrome (PAIS) in classical ballet dancers. MATERIALS AND METHODS: A retrospective review was undertaken of 25 MRI examinations of the ankle performed on 23 ballet dancers over a 26-month period. Images were examined for the presence of osseous and soft-tissue anatomical variants at the posterior ankle and imaging signs of PAIS. All patients presented with symptoms and signs suggestive of PAIS including posterior ankle pain, swelling and stiffness during plantar flexion. RESULTS: Anatomical variants predisposing to PAIS including as os trigonum and tuberosity arising from the superior calcaneum were clearly depicted. The most common imaging feature of PAIS in our series was high T2 signal posterior to the talocalcaneal joint indicating synovitis (n=25). Thickening of the posterior capsule (n=13) and tenosynovitis of flexor hallucis longus (n=17) were also common. An os trigonum was an infrequent finding (n=7). Bone marrow oedema, commonly in the posterior talus (n=10) or in a patchy distribution (n=10) was often noted. CONCLUSION: MRI is a useful diagnostic tool in PAIS, and in the present series, clearly demonstrates the anatomical variants and range of osseous and soft-tissue abnormalities associated with this condition. Prospective studies are needed to understand the significance and importance of individual MRI findings in producing the symptoms of PAIS

  3. Relationship between different fluorescein and indocyanine green angiography features in multiple evanescent white dot syndrome.

    Science.gov (United States)

    Dell'omo, R; Wong, R; Marino, M; Konstantopoulou, K; Pavesio, C

    2010-01-01

    To study the relationship between different fluorescein and indocyanine green angiographic features in a case series of multiple evanescent white dot syndrome (MEWDS) and to gain insight into its pathophysiological nature. Retrospective review of seven patients (eight eyes) with MEWDS (selected based on clinical and angiographic manifestations of the disorder) examined using slit-lamp biomicroscopy and studied using fluorescein angiography (FA) and indocyanine green angiography (ICGA). In the clinically affected eyes, FA early phases revealed hyperfluorescence in three eyes and a combination of hyper- and hypofluorescence in five eyes; the following relationships between FA and ICGA were found: (1) areas of early hypo- and late hyperfluorescence (staining and leakage) on FA corresponding to areas of early hypo and late hypo-,iso or hyperfluorescence on ICGA; (2) early and late hyperfluorescence (staining but very faint, if any, leakage) on FA corresponding to normal early ICGA and intermediate-late hypofluorescence; (3) areas of hypo- and hyperfluorescence on ICGA without a clear counterpart on FA. Angiographic features may vary in eyes with similar clinical signs of MEWDS. Such variability could reflect the different anatomical structures involved during the natural evolution of the disease. Angiographic studies suggest that both, inner and outer choroid, are involved in this disorder. The final outcome is not affected by the initial angiographic presentation.

  4. Age-related changes of adaptive and neuropsychological features in persons with Down Syndrome.

    Directory of Open Access Journals (Sweden)

    Alessandro Ghezzo

    Full Text Available Down Syndrome (DS is characterised by premature aging and an accelerated decline of cognitive functions in the vast majority of cases. As the life expectancy of DS persons is rapidly increasing, this decline is becoming a dramatic health problem. The aim of this study was to thoroughly evaluate a group of 67 non-demented persons with DS of different ages (11 to 66 years, from a neuropsychological, neuropsychiatric and psychomotor point of view in order to evaluate in a cross-sectional study the age-related adaptive and neuropsychological features, and to possibly identify early signs predictive of cognitive decline. The main finding of this study is that both neuropsychological functions and adaptive skills are lower in adult DS persons over 40 years old, compared to younger ones. In particular, language and short memory skills, frontal lobe functions, visuo-spatial abilities and adaptive behaviour appear to be the more affected domains. A growing deficit in verbal comprehension, along with social isolation, loss of interest and greater fatigue in daily tasks, are the main features found in older, non demented DS persons evaluated in our study. It is proposed that these signs can be alarm bells for incipient dementia, and that neuro-cognitive rehabilitation and psycho-pharmacological interventions must start as soon as the fourth decade (or even earlier in DS persons, i.e. at an age where interventions can have the greatest efficacy.

  5. Dentofacial trauma and players' attitude towards mouthguard use in field hockey: a systematic review and meta-analysis.

    Science.gov (United States)

    Vucic, Strahinja; Drost, Rosalin W; Ongkosuwito, Edwin M; Wolvius, Eppo B

    2016-03-01

    Dentofacial injuries are a risk while playing field hockey. Wearing mouthguards is recommended. To synthesise findings on the prevalence and characteristics of dentofacial injuries sustained by field hockey players. We also investigated the prevalence of regular mouthguard use and players' attitude towards use of mouthguard. A literature search was performed using PubMed, EMBASE, OvidSP, Web of Science, Cochrane and Cinahl databases. Eligible studies were identified based on the title, abstract and full text of articles. If applicable, a random effects model was used to calculate the overall effect size; otherwise, pooled prevalence was reported. 11 studies were eligible for the analysis. The average proportion of field hockey players who had sustained at least one dentofacial injury varied from 12.7% (95% CI 8.5% to 17.0%) among junior and senior players to 45.2% (95% CI 39.3% to 51.0%) among elite players. We did not observe any significant differences with respect to gender. In the 2000s, a significantly higher proportion of players regularly wore a mouthguard, 84.5% (95% CI 69.3% to 99.7%) as compared with players 20 years ago, 31.4% (95% CI 22.7% to 40.1%). The most common complaints about the mouthguard were that it was unnecessary and uncomfortable. Dentofacial injuries pose a serious problem in field hockey and a substantial number of players do not regularly wear a mouthguard. Greater use of mouthguards would be expected to reduce dentofacial injuries in field hockey. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  6. Ocorrência de disfunção temporomandibular em indivíduos com deformidade dentofacial

    Directory of Open Access Journals (Sweden)

    Dannyelle Christinny Bezerra de Oliveira Freitas Passos

    2015-08-01

    Full Text Available Resumo:OBJETIVO:verificar a ocorrência de disfunção temporomandibular em indivíduos com deformidade dentofacial.MÉTODOS:foram avaliados 60 indivíduos de ambos os gêneros e idade entre 18 e 40 anos (média=27 anos, sendo formados dois grupos, um composto por 30 sujeitos com deformidade dentofacial, em tratamento ortodôntico pré-cirúrgico e um grupo controle constituído por 30 indivíduos com equilíbrio dentofacial, pareados segundo o gênero e a idade com o grupo deformidade. Para avaliação da articulação temporomandibular, foram aplicados o questionário anamnésico de disfunção temporomandibular e o Eixo 1 do Research Diagnostic Criteria for Temporomandibular Disorderspara verificar e classificar o grau e o tipo da disfunção temporomandibular, respectivamente.RESULTADOS:os resultados da aplicação do questionário demonstraram que o grupo com deformidade apresentou maior grau e escore da disfunção que o grupo controle (p<0,01. A partir do Research Diagnostic Criteria for Temporomandibular Disorders verificou-se maior ocorrência de diagnósticos de deslocamento de disco (p=0,02 e de artrite, artralgia e artrose (p<0,01 no grupo com deformidade em relação ao grupo controle.CONCLUSÃO:indivíduos com deformidade dentofacial apresentaram maior ocorrência de disfunção temporomandibular, quando comparados aos indivíduos com equilíbrio dentofacial, na amostra estudada.

  7. Neuropathologic features in the hippocampus and cerebellum of three older men with fragile X syndrome

    Science.gov (United States)

    2011-01-01

    Background Fragile X syndrome (FXS) is the most common inherited form of intellectual disability, and is the most common single-gene disorder known to be associated with autism. Despite recent advances in functional neuroimaging and our understanding of the molecular pathogenesis, only limited neuropathologic information on FXS is available. Methods Neuropathologic examinations were performed on post-mortem brain tissue from three older men (aged 57, 64 and 78 years) who had received a clinical or genetic diagnosis of FXS. In each case, physical and cognitive features were typical of FXS, and one man was also diagnosed with autism. Guided by reports of clinical and neuroimaging abnormalities of the limbic system and cerebellum of individuals with FXS, the current analysis focused on neuropathologic features present in the hippocampus and the cerebellar vermis. Results Histologic and immunologic staining revealed abnormalities in both the hippocampus and cerebellar vermis. Focal thickening of hippocampal CA1 and irregularities in the appearance of the dentate gyrus were identified. All lobules of the cerebellar vermis and the lateral cortex of the posterior lobe of the cerebellum had decreased numbers of Purkinje cells, which were occasionally misplaced, and often lacked proper orientation. There were mild, albeit excessive, undulations of the internal granular cell layer, with patchy foliar white matter axonal and astrocytic abnormalities. Quantitative analysis documented panfoliar atrophy of both the anterior and posterior lobes of the vermis, with preferential atrophy of the posterior lobule (VI to VII) compared with age-matched normal controls. Conclusions Significant morphologic changes in the hippocampus and cerebellum in three adult men with FXS were identified. This pattern of pathologic features supports the idea that primary defects in neuronal migration, neurogenesis and aging may underlie the neuropathology reported in FXS. PMID:21303513

  8. Nance–Horan Syndrome: A Rare Case Report

    OpenAIRE

    Sharma, Shambhu; Datta, Pankaj; Sabharwal, Janak Raj; Datta, Sonia

    2017-01-01

    Dentofacial anomalies may guide us to the diagnosis of many congenital and hereditary syndromes. A 9-year-old boy was diagnosed with Nance–Horan syndrome. This syndrome is an extremely rare X-linked genetic disorder which is entirely expressed in males with semi-dominant transmission which results from mutations occurring in male gametes. It is characterized by facial dysmorphism such as long face, prominent nose and mandibular prognathism, ocular abnormalities such as congenital cataract, mi...

  9. A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation.

    Science.gov (United States)

    Saitsu, Hirotomo; Tohyama, Jun; Walsh, Tom; Kato, Mitsuhiro; Kobayashi, Yu; Lee, Ming; Tsurusaki, Yoshinori; Miyake, Noriko; Goto, Yu-Ichi; Nishino, Ichizo; Ohtake, Akira; King, Mary-Claire; Matsumoto, Naomichi

    2014-10-01

    Recently, de novo mutations in TBL1XR1 were found in two patients with autism spectrum disorders. Here, we report on a Japanese girl presenting with West syndrome, Rett syndrome-like and autistic features. Her initial development was normal until she developed a series of spasms at 5 months of age. Electroencephalogram at 7 months showed a pattern of hypsarrhythmia, which led to a diagnosis of West syndrome. Stereotypic hand movements appeared at 8 months of age, and autistic features such as deficits in communication, hyperactivity and excitability were observed later, at 4 years and 9 months. Whole exome sequencing of the patient and her parents revealed a de novo TBL1XR1 mutation [c.209 G>A (p.Gly70Asp)] occurring at an evolutionarily conserved amino acid in an F-box-like domain. Our report expands the clinical spectrum of TBL1XR1 mutations to West syndrome with Rett-like features, together with autistic features.

  10. Pathological features and proposed diagnostic criteria of porcine periweaning failure-to-thrive syndrome.

    Science.gov (United States)

    Huang, Y; Harding, J C S

    2015-05-01

    Porcine periweaning failure-to-thrive syndrome (PFTS) is a clinical syndrome characterized by anorexia and progressive debilitation of newly weaned pigs. The objectives of the current case-control study were to describe the histopathologic features of PFTS in North America and test for selected pathogens in case and control pigs on 8 farms allegedly fulfilling the clinical definition of PFTS. Based on observations during farm visits, 5 farms fully met the case definition (PFTS farms), whereas 3 farms only partially fulfilled the definition (NON-PFTS farms). Necropsy and histopathologic examination were performed on case (n = 8 or 9) and control (n = 4) pigs from each farm. Superficial gastritis, which was mainly localized in the fundus and characterized by attenuation of superficial foveolar cells, was significantly more frequent in case pigs from PFTS farms compared with all the other pigs (odds ratio [OR], 16.7). The same was found for thymic atrophy (OR, 30.1) and small intestinal (SI) villous atrophy in the duodenum (OR, 28.7), jejunum (OR, 67.4), and ileum (OR, 56.3). All pigs with PFTS had at least 2 of these 3 lesions: gastritis, thymic atrophy, and SI villous atrophy. PFTS was not associated with any relevant porcine pathogen tested. We propose the diagnosis of PFTS be based on the fulfillment of the clinical case definition, the presence of the above lesions, and exclusion of other common swine diseases and pathogens. However, PFTS can be ruled out if debilitated pigs do not have at least 2 of the above 3 lesions. © The Author(s) 2014.

  11. Acute adrenal failure as the presenting feature of primary antiphospholipid syndrome in a child

    Directory of Open Access Journals (Sweden)

    Improda Nicola

    2012-09-01

    Full Text Available Abstract Introduction Antiphospholipid syndrome (APS is characterized by recurrent arterial and venous thrombosis and detection of antiphospholipid antibodies (aPLs. This syndrome may be associated with connective tissue disorders, or with malignancies, but it may also appear in isolated form (primary APS. We report on a pediatric patient presenting with acute adrenal failure as the first manifestation of primary APS. Case report A previously healthy 11-year-old boy developed fever, abdominal pain, and vomiting. An abdominal computed tomography scan showed nodular lesions in the adrenal glands. He was referred to our Department and a diagnosis of APS and acute adrenal failure was considered, based on positive aPLs (IgG and IgM, elevated ACTH levels and low cortisol levels. Other features were anemia, thrombocytopenia, elevated inflammatory parameters, hypergammaglobulinemia, prolonged partial thromboplastin time, positive antinuclear, anticardiolipin, anti-platelet antibodies, with negative double-stranded DNA antibodies. Lupus anticoagulant and Coomb’s tests were positive. MRI revealed a bilateral adrenal hemorrhage. A treatment with intravenous metylprednisolone, followed by oral prednisone and anticoagulant, was started, resulting in a progressive improvement. After 2 months he also showed hyponatremia and elevated renine levels, indicating a mineralcocorticoid deficiency, requiring fludrocortisones therapy. Conclusion The development of acute adrenal failure from bilateral adrenal haemorrhage in the context of APS is a rare but life-threatening event that should be promptly recognized and treated. Moreover, this case emphasizes the importance of the assessment of aPLs in patients with acute adrenal failure in the context of an autoreaction.

  12. The prevalence and clinical features of the night eating syndrome in psychiatric out-patient population.

    Science.gov (United States)

    Saraçlı, Özge; Atasoy, Nuray; Akdemir, Asena; Güriz, Olga; Konuk, Numan; Sevinçer, Güzin Mukaddes; Ankaralı, Handan; Atik, Levent

    2015-02-01

    In this study we aimed to investigate the prevalance and clinical correlations of night eating syndrome (NES) in a sample of psychiatric outpatients. Four hundred thirthy three consecutive psychiatric out-patients older than 18years were evaluated in the outpatient clinics using clinical interview according to the DSM-IV with regard to psychiatric diagnosis. Participants were also screened for presence of NES utilizing both clinical interview and self report based on Night Eating Questionnaire (NEQ) instruments. Sociodemographic and clinical features such as age, gender, education level, socioeconomic level and body mass index (BMI) were also recorded. The Body Shape Questionnaire (BSQ) and the Symptom Checklist-90 Revised (SCL-90R) were administered. Based on the proposed diagnostic criteria of the NES via utilizing clinical interview method, 97 (32 male, 65 female) of the sample met diagnostic criteria for NES. The point prevalence of NES was 22.4%. No statistically significant differences were found between the two groups in terms of age, gender, marital status, education and BMI. The patients with NES had higher NEQ, BSQ and SCL-90R subscale scores than patients without NES. Prevalance of depressive disorder, impulse control disorder, and nicotine dependency was higher among patients with NES. No differences were found with regard to the medication (antipsychotics, antidepressants and mood stabilizers). Night eating syndrome is prevalent among psychiatric outpatients and associated with depression, impulse control disorder, and nicotine dependency. Body dissatisfaction and higher symptom severity are also other risk factors for the development of NES. Copyright © 2014 Elsevier Inc. All rights reserved.

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

    Energy Technology Data Exchange (ETDEWEB)

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

    1994-09-01

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

  14. Clinical and Laboratory Features, Treatment and Prognosis in Children with Guillian-Barre Syndrome

    Directory of Open Access Journals (Sweden)

    N. A. Suponeva

    2015-01-01

    Full Text Available A retrospective study of 42 cases of acute flaccid paralysis (AFP in children aged between 7 months and 15 years, registered at the Municipal Clinical Hospital №1 throughout a 7 year period (2007—2014, was performed to investigate the features of pediatric Guillian-Barre Syndrome (GBS. GBS has shown to be the most common cause of AFP in children, with prevalence of 74% of all 31 cases. Clinical manifestations, functional status, laboratory and electrodiagnostic data were evaluated in group of 31 children in order to highlight particular features of childhood GBS in Russia. The highest frequency of GBS was observed in children aged between 1 to 3 with the median 6 [3; 11] years. Boys with GBS outnumbered girls by a 2,1:1 ratio. No seasonal dependence has been observed, with children equally suffering from this disease without a seasonal pattern throughout the year. According to the electrophysiological and clinical data, 24 children were diagnosed with acute inflammatory demyelinating polyradiculoneuropathy (AIDP (77%, 5 with acute motor axonal neuropathy (AMAN (16% and 2 with аcute motor-sensory axonal neuropathy (AMSAN in a total of cases (7%. Several exclusive features of GBS in children for Russia were discovered. The most common initial symptom was limb pain, with the impartial sensory disturbance found only in 13% of the patients observed, 10% of which were paresthesias and the remaining 3% belonging to hypostesias. Children reached the nadir state rapidly, the median time from onset to nadir was 9.5 [6,25; 12,5] days. Cranial nerve dysfunction at nadir was observed in a greater percentage of patients (51% compared to that of 23% cases at the onset, with the facial palsy increasing from 10 to 32% and the bulbar palsy from 12 to 19%. The patients were given intravenous immunoglobulin in various doses: from 0.2 to 1.75 mg/kg per course (0.5 [0.5; 0.8] g/kg and/or plasmapheresis with a median volume of 93 [81; 100] ml/kg per

  15. Premaxillary-maxillary suture asymmetry in a juvenile Gorilla. Implications for understanding dentofacial growth and development.

    Science.gov (United States)

    Schwartz, J H

    1983-01-01

    A specimen of juvenile gorilla was found that had the premaxillary-maxillary suture coursing between the lateral deciduous incisor and deciduous canine on one side of the jaw, but between the central and lateral deciduous incisors on the other; in the latter, the suture also separates the alveolus of the lateral deciduous incisor from the crypt of the growing successional lateral incisor. Rather than dismiss this exception to the traditional dictum of tooth identification--which is based on the position to teeth relative to this suture--as some inconsequential anomaly, an attempt is made to understand how this can occur within the confines of present understanding of dentofacial growth and development and developmental theory. An hypothesis relating tooth and tooth class identification is presented in the context of ectomesenchymally predifferentiated stem progenitors and subsequent tooth class proliferation.

  16. Orthognathic treatment of dentofacial disharmonies: its impact on temporomandibular disorders, quality of life, and psychosocial wellness.

    Science.gov (United States)

    Song, Yi Lin; Yap, Adrian U Jin

    2017-01-01

    The objective of this literature review was to assess the effect of orthognathic surgical treatment on temporomandibular disorders (TMD), quality of life (QoL), and psychosocial wellness. Journal articles and systematic reviews published in English between 1982 and 2015 were searched using PubMed, MEDLINE, and Cochrane database using the search terms "orthognathic," "temporomandibular disorders," "quality of life," and "psychosocial." The articles were then reviewed and discussed. Both objective and subjective parameters play a role in orthognathic treatment outcome satisfaction and QoL. Psychological factors and TMD exerted a stronger influence on patients' QoL more than objective treatment outcome measures. A paradigm shift in clinical mindset from solely objective measures to a more holistic, patient-centric approach of addressing patients' expectations and improving QoL is warranted when treating patients with dentofacial disharmonies.

  17. Bone marrow features in Pearson syndrome with neonatal onset: A case report and review of the literature.

    Science.gov (United States)

    Tadiotto, Elisa; Maines, Evelina; Degani, Daniela; Balter, Rita; Bordugo, Andrea; Cesaro, Simone

    2018-04-01

    Pearson syndrome (PS) is a rare mitochondrial disorder that usually presents with transfusion-dependent macrocytic anemia, exocrine pancreatic dysfunction, and lactic acidosis. Typical bone marrow (BM) features are vacuolization in hematopoietic progenitors, hypocellularity, and ringed sideroblasts. At the neonatal age, PS may have a variable clinical onset. Moreover, there is little information about BM features at this age and the timing of their presentation. We report a neonatal case of PS that presented with refractory anemia and atypical BM features. We reviewed the BM findings in neonatal-onset PS cases to stress the importance and limitations of BM evaluation at this age. © 2017 Wiley Periodicals, Inc.

  18. Clinical Features and Outcomes of 666 Cases with Therapy-Related Myelodysplastic Syndrome (t-MDS).

    Science.gov (United States)

    El-Fattah, Mohamed Abd

    2018-01-01

    Therapy-related myelodysplastic syndrome (t-MDS) is a serious complication of chemoradiotherapy for primary diseases. This cohort was aimed to determine the clinical features and outcomes of t-MDS in comparison with de novo MDS. I retrieved data of 666 cases with t-MDS, and 29,703 cases with de novo MDS diagnosed between 2001 and 2012 from the database of U.S. National Cancer Institute. Survival curves were estimated, and Cox proportional hazards model was constructed. Compared with patients with de novo MDS, patients with t-MDS tended to be young (median age; 65 vs. 76 years, p  MDS than de novo MDS (17.2 months and 22% vs. 31 months and 32%, respectively, p  MDS cases, with a median follow-up of 16 months (range 1-143 months), 521 cases (78.2%) had died. Of which, 78 (15%) cases had died from acute myeloid leukemia, and 66 (12.7%) cases had died from solid cancers. Of the total 66 cases died from solid cancers; 19 cases (28.8%) died from cancer of lung/bronchus, 11 cases (16.7%) breast cancers, and 10 cases (15.2%) ovarian cancer. In a multivariate analysis adjusted for clinical features, calendar period and radiotherapy, the hazard of mortality was significantly low in de novo MDS compared with t-MDS (hazard ratio 0.59; p  MDS is a distinct entity of MDS in terms of clinical characteristics and prognosis.

  19. Irritable bowel syndrome subtypes: clinical and psychological features, body mass index and comorbidities

    Directory of Open Access Journals (Sweden)

    Cristiane Kibune-Nagasako

    2016-02-01

    Full Text Available Background: Irritable bowel syndrome (IBS is classified into subtypes according to bowel habit. Objective: To investigate whether there are differences in clinical features, comorbidities, anxiety, depression and body mass index (BMI among IBS subtypes. Methods: The study group included 113 consecutive patients (mean age: 48 ± 11 years; females: 94 with the diagnosis of IBS. All of them answered a structured questionnaire for demographic and clinical data and underwent upper endoscopy. Anxiety and depression were assessed by the Hospital Anxiety and Depression scale (HAD. Results: The distribution of subtypes was: IBS-diarrhea (IBS-D, 46%; IBS-constipation (IBS-C, 32%, and mixed IBS (IBS-M, 22%. IBS overlap with gastroesophageal reflux disease (GERD, functional dyspepsia, chronic headache and fibromyalgia occurred in 65.5%, 48.7%, 40.7% and 22.1% of patients, respectively. Anxiety and/or depression were found in 81.5%. Comparisons among subgroups showed that bloating was significantly associated with IBS-M compared to IBS-D (odds ratio-OR-5.6. Straining was more likely to be reported by IBS-M (OR 15.3 and IBS-C (OR 12.0 compared to IBS-D patients, while urgency was associated with both IBS-M (OR 19.7 and IBS-D (OR 14.2 compared to IBS-C. In addition, IBS-M patients were more likely to present GERD than IBS-D (OR 6.7 and higher scores for anxiety than IBS-C patients (OR 1.2. BMI values did not differ between IBS-D and IBS-C. Conclusion: IBS-M is characterized by symptoms frequently reported by both IBS-C (straining and IBS-D (urgency, higher levels of anxiety, and high prevalence of comorbidities. These features should be considered in the clinical management of this subgroup.

  20. Multi-feature snore sound analysis in obstructive sleep apnea–hypopnea syndrome

    International Nuclear Information System (INIS)

    Karunajeewa, Asela S; Abeyratne, Udantha R; Hukins, Craig

    2011-01-01

    Snoring is the most common symptom of obstructive sleep apnea hypopnea syndrome (OSAHS), which is a serious disease with high community prevalence. The standard method of OSAHS diagnosis, known as polysomnography (PSG), is expensive and time consuming. There is evidence suggesting that snore-related sounds (SRS) carry sufficient information to diagnose OSAHS. In this paper we present a technique for diagnosing OSAHS based solely on snore sound analysis. The method comprises a logistic regression model fed with snore parameters derived from its features such as the pitch and total airway response (TAR) estimated using a higher order statistics (HOS)-based algorithm. Pitch represents a time domain characteristic of the airway vibrations and the TAR represents the acoustical changes brought about by the collapsing upper airways. The performance of the proposed method was evaluated using the technique of K-fold cross validation, on a clinical database consisting of overnight snoring sounds of 41 subjects. The method achieved 89.3% sensitivity with 92.3% specificity (the area under the ROC curve was 0.96). These results establish the feasibility of developing a snore-based OSAHS community-screening device, which does not require any contact measurements

  1. Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type?

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    Melis Daniela

    2012-11-01

    Full Text Available Abstract Ehlers Danlos syndrome (EDS athrocalasia type (type VII, is characterized by joint hypermobility, skin hyperextensibility and tissue fragility. No heart involvement has been reported. Two forms have been described: type VII A and VII B. The abnormally processed collagen α2(I and the skipping of the exon 6 in COL1A2 gene are typically detected in EDS type VII B. We describe a seven-year old female, with a phenotype consistent with EDS type VII B and a diagnosis further confirmed by biochemical and molecular analyses. Cardiac ultrasound showed normal data in the first year of life. When she was 5 years old, the patient developed mitral valve regurgitation, and aortic and tricuspidal insufficiency at 7 years of age. To our knowledge, this is the first report of cardiac valvular involvement in EDS VII B. This feature probably has been underreported for the limited follow-up of the patients. Echocardiography might be warranted in the clinical assessment of EDS VII patients.

  2. CT features of pulmonary mycobacterial disease in patients with acquired immunodeficiency syndrome

    International Nuclear Information System (INIS)

    Zhu Ying; Zhang Zhiyong; Shi Yuxin; Feng Feng

    2013-01-01

    Objective: To study the CT features of pulmonary non-tuberculous mycobacteria (NTM) disease in patients with acquired immunodeficiency syndrome (AIDS) and explore the different CT appearances between AIDS-NTM and AIDS-TB. Methods: CT findings of pulmonary NTM disease in 27 AIDS patients (NTM group) were retrospectively analyzed and compared with that of tuberculosis in 30 AIDS patients (TB group). The results were statistically analyzed using Fisher's exact test. Results: CT findings of NTM appeared significantly more than that of TB as follows: high-density nodules (n = 18 vs 1, P < 0.01), ground-glass opacities (n = 10 vs 0, P < 0.01), fibrotic band (n = 17 vs 3, P < 0.01), bronchiectasis (9 vs 2, P = 0.012). CT findings of NTM appeared significantly less than that of TB as follows: miliary nodules (0 vs 6, P = 0.016), air space consolidations (n = 2 vs 11, P < 0.01), pleural effusion (n = 1 vs 9, P < 0.01). Conclusion: Nodule and fibrotic band accompanied with bronchiectasis were the main CT manifestations of pulmonary NTM disease in AIDS patients, while air space consolidation accompanied with pleural effusion and miliary nodules were the predominate CT findings of pulmonary tuberculosis in AIDS patients. (authors)

  3. Multi-feature snore sound analysis in obstructive sleep apnea-hypopnea syndrome.

    Science.gov (United States)

    Karunajeewa, Asela S; Abeyratne, Udantha R; Hukins, Craig

    2011-01-01

    Snoring is the most common symptom of obstructive sleep apnea hypopnea syndrome (OSAHS), which is a serious disease with high community prevalence. The standard method of OSAHS diagnosis, known as polysomnography (PSG), is expensive and time consuming. There is evidence suggesting that snore-related sounds (SRS) carry sufficient information to diagnose OSAHS. In this paper we present a technique for diagnosing OSAHS based solely on snore sound analysis. The method comprises a logistic regression model fed with snore parameters derived from its features such as the pitch and total airway response (TAR) estimated using a higher order statistics (HOS)-based algorithm. Pitch represents a time domain characteristic of the airway vibrations and the TAR represents the acoustical changes brought about by the collapsing upper airways. The performance of the proposed method was evaluated using the technique of K-fold cross validation, on a clinical database consisting of overnight snoring sounds of 41 subjects. The method achieved 89.3% sensitivity with 92.3% specificity (the area under the ROC curve was 0.96). These results establish the feasibility of developing a snore-based OSAHS community-screening device, which does not require any contact measurements.

  4. Gilbert’s syndrome: clinical features, diagnostics, differential diagnosis and treatment (part 2

    Directory of Open Access Journals (Sweden)

    T.V. Sorokman

    2017-02-01

    Full Text Available We searched for published and unpublished research using PubMed as the search engine by the keywords: “Gilbert’s syndrome”, “clinical manifestation”, “diagnosis”, “treatment”, taking into consideration studies conducted in the last 10 years, citation review of relevant primary and review articles, conference abstracts, personal files, and contact with expert informants. The criterion for the selection of articles for the study was based on their close relevance to the topic, thus, out of 75 analyzed articles, the findings of the researches covered in 28 articles were crucial. Clinical manifestations of Gilbert’s syndrome (GS are possible both in homozygous for UGT1A1, and in heterozygous status. A latent variant of the disease prevails in individuals with heterozygous status. Up to 30 % of homozygous for the defective gene of GS individuals have an asymptomatic course of the disease. Clinical types of GS: dyspeptic — 43.2 %, asthenovegetative — 15.9 %, icteric — 14.8 % and asymptomatic — 26.1 %. Dietary deviations, mental fatigue, stress, trauma, acute infections, including hepatitis, certain medications intake are the triggers for GS. In 86.4 % of children with GS, the pathology of the upper digestive tract was detected: duodenitis — in 58 % of cases, gastritis — in 56.8 %, esophagitis — in 12.5 %, duodenal ulcer — in 2.3 %, in 39.7 % of patients sphincter disorders were registered (duodenogastric and gastroesophageal bile reflux. The GS is characterized by reduced detoxification function of the liver, in particular in 2/3 of patients decreased hepatocyte metabolic activity was observed, the excretory function of liver cell suffers in another half of patients, the biliary tract disorders and increased risk of gallstones formation are described in 88 % of cases. Some patients with GS have certain psychological disorders, including anxiety. Diagnostic criteria for GS: 1. A peculiar pale yellowish

  5. Clinical features and outcome of epinephrine-induced takotsubo syndrome: Analysis of 33 published cases

    Energy Technology Data Exchange (ETDEWEB)

    Y-Hassan, Shams, E-mail: shams.younis-hassan@karolinska.se

    2016-10-15

    Background: Takotsubo syndrome (TS) may be triggered by innumerable physical stress factors including epinephrine administration. The aim of this study is to report on the clinical features and outcome of epinephrine-induced TS (Epi-TS) in a large cohort of published cases. Methods: A computer assisted search of the electronic data base Pubmed was performed from 1990 to 2014. All cases deemed to have Epi-TS were retrieved and compared to the large recent report by Templin et al. (All-TS). Results: Thirty-three cases of Epi-TS were retrieved from the literature and compared to 1750 cases of All-TS. Chest pain as a presenting symptom occurred in 45% of cases. The Epi-TS patients were on average 20.6 years younger than All-TS patients (p < 0.0001). The women were still predominating in Epi-TS but in a significantly lower percentage compared to ALL-TS (73% in Epi-TS vs 89.8% in All-TS, p = 0.0054). One third of the Epi-TS cases had basal pattern of TS compared to 2.2% of cases reported in All-TS. Epi-TS cases were characterized by high complication rates, which occurred in 57.6%. The most important risk factor for the development of TS complication was the accidental administration (P < 0.001) and the dose of >1 mg epinephrine (p = 0.02). In spite of high complication rates, the recovery was rapid with no in-hospital mortality. Conclusion: Epi-TS is characterized by a dramatic rapid onset of symptoms after epinephrine administration. Almost half of the cases had apical sparing and one third basal pattern of TS. In spite of high complication rates, the prognosis was good with no in-hospital mortality. - Highlights: • Published cases of Epinephrine-induced Takotsubo Syndrome (Epi-TS) are reviewed. • Epi-TS is characterized by a dramatic clinical presentation and high complication rates. • In spite of high complication rates, the prognosis of Epi-TS is good. • Almost half of the cases of Epi-TS had apical sparing pattern of TS. • The implications of the findings

  6. Schizophrenia with prominent catatonic features ('catatonic schizophrenia') III. Latent class analysis of the catatonic syndrome.

    Science.gov (United States)

    Ungvari, Gabor S; Goggins, William; Leung, Siu-Kau; Lee, Edwin; Gerevich, Jozsef

    2009-02-01

    results provide preliminary support for the notion that chronic schizophrenia patients with catatonic features can be classified into 4 distinct syndromal groups on the basis of their motor symptoms. Identifying distinct catatonic syndromes would help to find their biological substrates and to develop specific therapeutic measures.

  7. Clinical features and outcome of epinephrine-induced takotsubo syndrome: Analysis of 33 published cases

    International Nuclear Information System (INIS)

    Y-Hassan, Shams

    2016-01-01

    Background: Takotsubo syndrome (TS) may be triggered by innumerable physical stress factors including epinephrine administration. The aim of this study is to report on the clinical features and outcome of epinephrine-induced TS (Epi-TS) in a large cohort of published cases. Methods: A computer assisted search of the electronic data base Pubmed was performed from 1990 to 2014. All cases deemed to have Epi-TS were retrieved and compared to the large recent report by Templin et al. (All-TS). Results: Thirty-three cases of Epi-TS were retrieved from the literature and compared to 1750 cases of All-TS. Chest pain as a presenting symptom occurred in 45% of cases. The Epi-TS patients were on average 20.6 years younger than All-TS patients (p < 0.0001). The women were still predominating in Epi-TS but in a significantly lower percentage compared to ALL-TS (73% in Epi-TS vs 89.8% in All-TS, p = 0.0054). One third of the Epi-TS cases had basal pattern of TS compared to 2.2% of cases reported in All-TS. Epi-TS cases were characterized by high complication rates, which occurred in 57.6%. The most important risk factor for the development of TS complication was the accidental administration (P < 0.001) and the dose of >1 mg epinephrine (p = 0.02). In spite of high complication rates, the recovery was rapid with no in-hospital mortality. Conclusion: Epi-TS is characterized by a dramatic rapid onset of symptoms after epinephrine administration. Almost half of the cases had apical sparing and one third basal pattern of TS. In spite of high complication rates, the prognosis was good with no in-hospital mortality. - Highlights: • Published cases of Epinephrine-induced Takotsubo Syndrome (Epi-TS) are reviewed. • Epi-TS is characterized by a dramatic clinical presentation and high complication rates. • In spite of high complication rates, the prognosis of Epi-TS is good. • Almost half of the cases of Epi-TS had apical sparing pattern of TS. • The implications of the findings

  8. Risk Factors and Clinical Follow-Up Features of Meconium Aspiration Syndrome

    OpenAIRE

    Anuk İnce, Deniz; Takcı, Şahin; Altıntaş, Buket

    2015-01-01

    AbstractAim: Meconium aspiration syndrome is usually seen in full-term and post-term infants and may cause complications including respiratory failure, pulmonary air leaks, and persistent pulmonary hypertension. The aim of this study was to determine risk factors of meconium aspiration syndrome and assess the clinical course of the disease.Material and Methods: Fourteen of 508 infants diagnosed with meconium aspiration syndrome between January 2013 and April 2014 were retrospectively analyzed...

  9. Clinical features of hemolysis, elevated liver enzymes, and low platelet count syndrome in undiagnosed Wilson disease: report of two cases.

    Science.gov (United States)

    Członkowska, Anna; Gromadzka, Grażyna; Büttner, Janine; Chabik, Grzegorz

    2010-01-01

    Wilson's disease (WD) is an autosomal recessive disorder characterized by toxic accumulation of copper mainly in the liver and brain. The hepatic manifestation of WD is diverse and may include asymptomatic elevation of aminotransferase, chronic hepatitis, cirrhosis, or acute/fulminant hepatic failure. Characteristic of acute hepatic failure in WD is concomitance of acute intravascular hemolytic anemia that in some patients may represent a first clinical symptom of WD. The diagnosis of acute Wilsonian liver failure is difficult, as similar signs may be observed in other clinical conditions. In pregnant patients with unrecognized WD, liver failure with hemolysis may be interpreted as the low platelet count (HELLP) syndrome. We describe two women, who developed the clinical features of hemolysis, elevated liver enzymes, and HELLP syndrome. In both, further diagnostics confirmed WD. WD should be remembered in the differential diagnostics of HELLP syndrome.

  10. The acrocallosal syndrome in first cousins: widening of the spectrum of clinical features and further support for autosomal recessive inheritance.

    Science.gov (United States)

    Schinzel, A

    1988-01-01

    First cousins, related through their mothers, showed a pattern of craniofacial, brain, and limb anomalies consistent with the acrocallosal syndrome. Both patients had a defect of the corpus callosum, macrocephaly with a protruding forehead and occiput, hypertelorism, non-horizontal palpebral fissures, a small nose, notched ear lobes, and postaxial polydactyly of the hands. The boy, in addition, had hypospadias, cryptorchidism, inguinal hernias, duplication with syndactyly of the phalanges of the big toe, and a bipartite right clavicle. The girl had an arachnoidal cyst, a calvarian defect, and digitalisation of the thumbs. Motor and mental development was retarded in both patients. This observation provides further evidence of probable autosomal recessive inheritance of the acrocallosal syndrome and widens the spectrum of clinical findings and the variability of features in this rare malformation syndrome. Images PMID:3385741

  11. Chromosome 22q11.2 Deletion Syndrome Presenting as Adult Onset Hypoparathyroidism: Clues to Diagnosis from Dysmorphic Facial Features

    Directory of Open Access Journals (Sweden)

    Sira Korpaisarn

    2013-01-01

    Full Text Available We report a 26-year-old Thai man who presented with hypoparathyroidism in adulthood. He had no history of cardiac disease and recurrent infection. His subtle dysmorphic facial features and mild intellectual impairment were suspected for chromosome 22q11.2 deletion syndrome. The diagnosis was confirmed by fluorescence in situ hybridization, which found microdeletion in 22q11.2 region. The characteristic facial appearance can lead to clinical suspicion of this syndrome. The case report emphasizes that this syndrome is not uncommon and presents as a remarkable variability in the severity and extent of expression. Accurate diagnosis is important for genetic counseling and long-term health supervision by multidisciplinary team.

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

    International Nuclear Information System (INIS)

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

    2012-01-01

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

  13. Cardio-Metabolic Features of Type 2 Diabetes Subjects Discordant in the Diagnosis of Metabolic Syndrome

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    Sa Rah Lee

    2012-10-01

    Full Text Available BackgroundThe aim of this study is to investigate the cardio-metabolic parameters and surrogate markers of insulin resistance in a discordant group of type 2 diabetes (T2DM subjects who satisfy the Adults Treatment Panel (ATP III criteria, but not the International Diabetes Federation (IDF criteria, for metabolic syndrome (MetS.MethodsWe assessed the prevalence of MetS in T2DM subjects (n=167 who were selected from subjects registered at the diabetes center of Dong-A University Medical Center. We used the ATP III criteria and the IDF criteria for the diagnosis of MetS and sorted the subjects into 2 MetS groups: one group diagnosed per ATP III criteria (MetSa and one diagnosed per IDF criteria (MetSi. We then compared the clinical characteristics, metabolic parameters (homeostasis model assessment of insulin resistance, aspartate aminotransferase, alanine aminotransferase, and uric acid values and co-morbidities (prevalence of microalbuminuria, fatty liver, and cardiovascular disease between the MetSa, MetSi, and discordant MetS groups.ResultsThe prevalence of MetS in the MetSa group (73.6% was higher than in the MetSi group (62.2%. The MetS prevalence in the discordant group was 11.4%. The discordant group showed no significant differences in clinical characteristics (except waist circumference and body mass index, metabolic parameters, or prevalence of co-morbidities, as compared with subjects with MetS by both criteria.ConclusionIn this study, cardio-metabolic features of the subjects diagnosed with MetS using ATP III criteria, but not IDF criteria, are not significantly different from those of subjects diagnosed with MetS using both criteria.

  14. Endocrino-metabolic features in women with polycystic ovary syndrome during pregnancy.

    Science.gov (United States)

    Paradisi, G; Fulghesu, A M; Ferrazzani, S; Moretti, S; Proto, C; Soranna, L; Caruso, A; Lanzone, A

    1998-03-01

    To elucidate the mechanism of metabolic adaptation of women with polycystic ovary syndrome (PCOS) during pregnancy, the endocrino-metabolic features of a group of PCOS patients with or without gestational diabetes were studied longitudinally during the three trimesters of gestation. Oral glucose tolerance test (OGTT, 100 g) and hyperinsulinaemic-euglycaemic clamp were performed throughout the study. Plasma concentrations of insulin and glucose were determined by radioimmunoassay and glucose oxidase technique, respectively. Five of 13 PCOS patients developed gestational diabetes (GD) at the third trimester (PCOS-GD), while the other eight patients did not develop any alteration of glucose metabolism (PCOS-nGD). Both fasting glucose and insulin plasma concentrations did not change significantly during pregnancy and no difference was seen between the two groups. On the contrary PCOS-GD group early exhibited higher values of area under the curve (AUC) for glucose and insulin response to OGTT with respect to those found in PCOS-nGD group. This difference was already significant in the first gestational trimester. Moreover insulin sensitivity value (M) was significantly lower in the first trimester of gestation in PCOS-GD as compared with that found in PCOS-nGD group. However, as gestation proceeded, M value decreased in PCOS-nDG group and the difference from PCOS patients developing gestational diabetes was not sustained into the second and third trimesters. Both groups had similar body mass index values and AUC insulin increase from first to third trimester of gestation. It is concluded that early alteration of insulin sensitivity and secretion constitute specific risk factors in PCOS patients for the development of abnormalities of glucose tolerance.

  15. Clinical features and prognosis of a sample of patients with trisomy 13 (Patau syndrome) from Brazil.

    Science.gov (United States)

    Petry, Patrícia; Polli, Janaina B; Mattos, Vinícius F; Rosa, Rosana C M; Zen, Paulo R G; Graziadio, Carla; Paskulin, Giorgio A; Rosa, Rafael F M

    2013-06-01

    Trisomy 13 or Patau syndrome (PS) is a chromosomal disorder characterized by a well known presentation of multiple congenital anomalies. Our objective was to determine the clinical features and prognosis observed in a sample of patients with PS. The series was composed of patients with diagnosis of PS consecutively evaluated by a Clinical Genetics Service from a reference hospital of southern Brazil, in the period between 1975 and 2012. Statistical analysis was performed using PEPI program (version 4.0), with two-tailed Fisher's exact test for comparison of frequencies (P<0.05). The sample consisted of 30 patients, 60% male, median age at first evaluation of 9 days. Full trisomy of chromosome 13 was the main cytogenetic alteration (73%). The major clinical findings included: cryptorchidism (78%), abnormal auricles (77%), congenital heart defects (76%), polydactyly (63%), microphthalmia (60%) and micrognathia (50%). Four patients (13%) simultaneously had micro/anophthalmia, oral clefts and polydactyly. Some findings were only observed in our sample and included, among others, preauricular tags (10%), duplication of the hallux (3%) and spots following the lines of Blaschko (3%). Mosaicism (20% of cases) had a statistically significant association only with absence of cryptorchidism. The median of survival was 26 days. Patients with and without mosaicism had similar median of survival. Our findings, in agreement with the literature, show that the anomalies in patients with PS can be quite variable, sometimes even atypical. There is no pathognomonic finding, which may make the early identification of these patients challenging. Copyright © 2013 Wiley Periodicals, Inc.

  16. The Clinical and Neurophysiological Features of Epileptic Syndromes Associated with Benign Focal Epileptiform Discharges of Childhood

    Directory of Open Access Journals (Sweden)

    N. A. Ermolaenko

    2014-01-01

    Full Text Available Benign focal epileptiform discharge of childhood (BFEDC is an age-dependent pattern determined in electroencephalograms (EEGs, which is associated with idiopathic benign focal epilepsy (BFE. Studies of BFE revealed symptomatic phenocopies in patients with cerebral struc- tural abnormalities in such conditions as infantile cerebral palsy and malformations. Some arguments against the «benign» nature of BFEDC are presented, since BFEDC may impair various cognitive functions and behavior (e.g., cause epileptic encephalophathies. Objective. To determine the clinical and neurophysiological features of epileptic syndromes associated with prolonged epileptiform activity during sleep in children and adolescents, as well as approaches to rational therapy. Patients and Methods. A total of 1862 children aged 2–18 admitted to the specialized Department of Psychoneurology of the Voronezh Regional Children Clinical Hospital No 1 in 2004–2007, who had epileptic seizures and non-epileptic neurological disorders, were exam- ined. The children underwent assessment of the neurological status, neuropsychological assessment, and video-EEG monitoring. The spike- wave index (SWI was calculated and magnetic resonance imaging (MRI of the brain was performed to register the epileptiform activity during sleep. Results and Discussion. It was demonstrated that when ISW of BFEDC patterns is >30%, evolution into epileptic encephalopathy was observed in 66% of patients (including epilepsy with electrical status epilepticus in sleep in 49% of patients and cognitive epileptiform disinte- gration in 17% of patients. The results prove the justification of prescribing antiepileptic drugs to patients with SWI ≥30% even if they have no epileptic seizures. Duo-therapy with valproate and ethosuximide or levetiracetam is most the effective therapy. Further prospective studies for children with BFEDC will give new insight into this area. 

  17. Refractory obstetrical antiphospholipid syndrome: Features, treatment and outcome in a European multicenter retrospective study.

    Science.gov (United States)

    Mekinian, Arsène; Alijotas-Reig, Jaume; Carrat, Fabrice; Costedoat-Chalumeau, Nathalie; Ruffatti, Amelia; Lazzaroni, Maria Grazia; Tabacco, Sara; Maina, Aldo; Masseau, Agathe; Morel, Nathalie; Esteve-Valverde, Enrique Esteve; Ferrer-Oliveras, Raquel; Andreoli, Laura; De Carolis, Sara; Josselin-Mahr, Laurence; Abisror, Noémie; Nicaise-Roland, Pascale; Tincani, Angela; Fain, Olivier

    2017-07-01

    To describe the consecutive pregnancy outcome and treatment in refractory obstetrical antiphospholipid syndrome (APS). Retrospective multicenter open-labelled study from December 2015 to June 2016. We analyzed the outcome of pregnancies in patients with obstetrical APS (Sydney criteria) and previous adverse obstetrical event despite low-dose aspirin and low-molecular weight heparin LMWH (LMWH) conventional treatment who experienced at least one subsequent pregnancy. Forty nine patients with median age 27years (23-32) were included from 8 European centers. Obstetrical APS was present in 71%, while 26% had obstetrical and thrombotic APS. Lupus anticoagulant was present in 76% and triple antiphospholipid antibody (APL) positivity in 45% of patients. Pregnancy loss was noted in 71% with a median age of gestation of 11 (8-21) weeks. The presence of APS non-criteria features (35% vs 17% in pregnancies without adverse obstetrical event; p=0.09), previous intrauterine death (65% vs 38%; p=0.06), of LA (90% vs 65%; p=0.05) were more frequent in pregnancies with adverse pregnancy outcome, whereas isolated recurrent miscarriage profile was more frequent in pregnancies without any adverse pregnancy outcome (15% vs 41%; p=0.04). In univariate analysis considering all pregnancies (index and subsequent ones), an history of previous intrauterine death was associated with pregnancy loss (odds-ratio 2.51 (95% CI 1.274.96); p=0.008), whereas previous history of prematurity related to APS (odds-ratio 0.13 95%CI 0.04 0.41, P=0.006), steroids use during the pregnancy (odds-ratio 0.30 95% CI 0.11-0.82, p=0.019) and anticardiolipids isolated profile (odds-ratio 0.51 95% CI 0.26-1.03, p=0.0588) were associated with favorable outcome. In multivariate analysis, only previous history of prematurity, steroids use and anticardiolipids isolated profiles were associated with live-birth pregnancy. The main features of refractory obstetrical APS were the high rates of LA and triple APL positivity

  18. Carbohydrate restriction improves the features of Metabolic Syndrome. Metabolic Syndrome may be defined by the response to carbohydrate restriction

    Directory of Open Access Journals (Sweden)

    Feinman Richard D

    2005-11-01

    Full Text Available Abstract Metabolic Syndrome (MetS represents a constellation of markers that indicates a predisposition to diabetes, cardiovascular disease and other pathologic states. The definition and treatment are a matter of current debate and there is not general agreement on a precise definition or, to some extent, whether the designation provides more information than the individual components. We consider here five indicators that are central to most definitions and we provide evidence from the literature that these are precisely the symptoms that respond to reduction in dietary carbohydrate (CHO. Carbohydrate restriction is one of several strategies for reducing body mass but even in the absence of weight loss or in comparison with low fat alternatives, CHO restriction is effective at ameliorating high fasting glucose and insulin, high plasma triglycerides (TAG, low HDL and high blood pressure. In addition, low fat, high CHO diets have long been known to raise TAG, lower HDL and, in the absence of weight loss, may worsen glycemic control. Thus, whereas there are numerous strategies for weight loss, a patient with high BMI and high TAG is likely to benefit most from a regimen that reduces CHO intake. Reviewing the literature, benefits of CHO restriction are seen in normal or overweight individuals, in normal patients who meet the criteria for MetS or in patients with frank diabetes. Moreover, in low fat studies that ameliorate LDL and total cholesterol, controls may do better on the symptoms of MetS. On this basis, we feel that MetS is a meaningful, useful phenomenon and may, in fact, be operationally defined as the set of markers that responds to CHO restriction. Insofar as this is an accurate characterization it is likely the result of the effect of dietary CHO on insulin metabolism. Glucose is the major insulin secretagogue and insulin resistance has been tied to the hyperinsulinemic state or the effect of such a state on lipid metabolism. The

  19. Structural and sequence variants in patients with Silver-Russell syndrome or similar features-Curation of a disease database

    DEFF Research Database (Denmark)

    Tümer, Zeynep; López-Hernández, Julia Angélica; Netchine, Irène

    2018-01-01

    Silver-Russell syndrome (SRS) is a clinically and molecularly heterogeneous disorder involving prenatal and postnatal growth retardation, and the term SRS-like is broadly used to describe individuals with clinical features resembling SRS. The main molecular subgroups are loss of methylation...... data of these patients. The clinical features are scored according to the Netchine-Harbison clinical scoring system (NH-CSS), which has recently been accepted as standard by consensus. The structural and sequence variations are reviewed and where necessary redescribed according to recent...

  20. [Study of traditional Chinese medicine syndrome features of AIDS-related chronic diarrhea].

    Science.gov (United States)

    Ni, Liang; Wang, Rong-Bing; Yang, Xiao-Ping; Gao, Hui; Tan, Xing-Hua; Wang, Cui-Fang; Li, Feng

    2013-08-01

    To study the AIDS-related chronic diarrhea in traditional Chinese medicine (TCM) clinical manifestations and syndrome factors, explore the characteristics of syndrome. A multicenter, prospective collection of 311 cases of AIDS patients with chronic diarrhea, study the characteristics of TCM syndrome by using the method of descriptive statistics and exploratory factor analysis. The common clinical manifestation of TCM: fatigue (229 cases, 73.63%), bowel (229 cases, 68.81%), diarrhea (194 cases, 62.38%), thin fur (201 cases, 64.63%), pink tongue (166 cases, 53.38%), greasy fur, thready pulse (126 cases, 40.51%), sink vein (64 cases, 20.58%), slippery pulse. 17 common factors were extracted, common disease syndrome factor as the spleen, stomach, liver, gallbladder and colon syndrome factors of disease, Qi, Yang deficiency, Qi stagnation, dampness and heat evil. AIDS-related chronic diarrhea symptoms involving multiple organs, the disease belongs to deficiency and excess.

  1. 3D dentofacial photogrammetry reference values: a novel approach to orthodontic diagnosis.

    Science.gov (United States)

    Masoud, Mohamed I; Bansal, Neetu; C Castillo, Jose; Manosudprasit, Amornrut; Allareddy, Veerasathpurush; Haghi, Arshan; Hawkins, Hannah C; Otárola-Castillo, Erik

    2017-04-01

    Orthodontic diagnostic standards generally use the cranial base as a reference and rely on samples selected by orthodontists. The purpose of this study was to provide male and female standards for a novel non-radiographic approach for orthodontic diagnosis that utilizes 3D dentofacial photogrammetry using the eyes and natural head orientation as references instead of the cranial base. One hundred and eighty females and 200 males between the ages of 18 and 35 years from 2 modeling agencies were orthodontically screened for near ideal occlusion. Subjects that met the inclusion criteria were rated by a sample of 40 lay people for attractiveness on a visual analogue scale. The final sample that had 3D facial and dental imaging included 49 subjects 25 males and 24 females with near ideal occlusion and considered attractive by the public. Inter and Intra-examiner ICC were greater than 0.8 for both landmarking and indexing. Relative to a coronal plane contacting the pupils (MC), the mean sagittal position of the alar curvature (representing the nasomaxillary complex) was 14.36 ± 3.08 mm in males and 12.4 ± 3.58 mm in females. The sagittal position of soft tissue pogonion relative to the pupils was 14.84 ± 3.63 mm in males and 12.78 ± 5.68 mm in females. The angle between the alar curvature and pogonion relative to the pupils was 9° in males and 10° in females. With the exception of the occlusal plane which was steeper in females, no ratios or angular facial measurements showed a significant gender difference. Relative to MC, males had more proclined upper incisors (20° vs 16°) and more retroclined Lower incisors (27° vs 31°; P > 0.05). A Procrustes ANOVA and permutation test showed that the shapes of males and females are different enough to be considered two distinct populations. 1. When using the proposed method for orthodontic diagnosis, male and female patients should be compared to their respective dentofacial standards. 2. Validation of the proposed method

  2. Imaging features of a rare case of scapuloiliac dysostosis (Kosenow syndrome in an ambulatory child

    Directory of Open Access Journals (Sweden)

    John Joseph

    2011-02-01

    Full Text Available Scapuloiliac dysostosis, also known as pelvis-shoulder dysplasia and Kosenow syndrome, is a rare skeletal dysplasia described first by Kosenow et al. in 1970. The main components of the syndrome are varying degrees of bilateral iliac and scapular hypoplasia. Various other skeletal abnormalities including exaggerated lumbar lordosis, and clavicular, vertebral, rib and long bone anomalies and extra-skeletal abnormalities, most commonly those of eye and ear, have also been reported. We report the plain radiography, CT and MRI findings of an interesting case of the syndrome.

  3. Carbohydrate restriction improves the features of Metabolic Syndrome. Metabolic Syndrome may be defined by the response to carbohydrate restriction

    OpenAIRE

    Volek, Jeff S; Feinman, Richard D

    2005-01-01

    Abstract Metabolic Syndrome (MetS) represents a constellation of markers that indicates a predisposition to diabetes, cardiovascular disease and other pathologic states. The definition and treatment are a matter of current debate and there is not general agreement on a precise definition or, to some extent, whether the designation provides more information than the individual components. We consider here five indicators that are central to most definitions and we provide evidence from the lit...

  4. [Acute anterior myocardial infarction as presenting feature of antiphospholipid syndrome related lupus arthritis].

    Science.gov (United States)

    Capilla-Geay, E; Poyet, R; Brocq, F X; Pons, F; Kerebel, S; Foucault, G; Jego, C; Cellarier, G R

    2016-05-01

    Antiphospholipid syndrome is an autoimmune disorder causing venous and arterial thrombosis. Acute coronary complications are rare but potentially dramatic. We report a 39-year-old woman who presented with an acute anterior myocardial infarction after intravenous corticosteroids as part of the treatment of lupus arthritis and revealing antiphospholipid syndrome. Emergency coronary angiography was performed with drug-eluting stent angioplasty despite the need for anticoagulation and dual antiplatelet therapy. Antiplatelet and anticoagulant therapy management is pivotal in patients with antiphospholipid syndrome and acute coronary syndrome to prevent thrombosis recurrence. Copyright © 2015 Société nationale française de médecine interne (SNFMI). Published by Elsevier SAS. All rights reserved.

  5. Oral features and dental health in Hurler Syndrome following hematopoietic stem cell transplantation.

    LENUS (Irish Health Repository)

    McGovern, Eleanor

    2010-09-01

    Hurler Syndrome is associated with a deficiency of a specific lysosomal enzyme involved in the degradation of glycosaminoglycans. Hematopoietic stem cell transplantation (HSCT) in early infancy is undertaken to help prevent the accumulation of glycosaminoglycans and improve organ function.

  6. UNKNOWN SYNDROME - MENTAL-RETARDATION WITH DYSMORPHIC FEATURES, EARLY BALDING, PATELLA LUXATIONS, ACROMICRIA, AND HYPOGONADISM

    NARCIS (Netherlands)

    SCHOLTE, FA; BEGEER, JH; VANESSEN, AJ

    A patient is described with severe mental retardation, a peculiar face with small palpebral fissures and premature balding, habitual patella luxations, small hands and feet, and hypogonadism, a combination which appears to represent a new syndrome.

  7. Eye features in three Danish patients with multisystemic smooth muscle dysfunction syndrome

    DEFF Research Database (Denmark)

    Moller, Hans Ulrik; Fledelius, Hans C; Milewicz, Dianna M

    2012-01-01

    A de novo mutation of the ACTA2 gene encoding the smooth muscle cell α-actin has been established in patients with multisystemic smooth muscle dysfunction syndrome associated with patent ductus arteriosus and mydriasis present at birth....

  8. Oculo-facio-cardio-dental syndrome in three succeeding generations: genotypic data and phenotypic features

    Energy Technology Data Exchange (ETDEWEB)

    Lozić, B. [Department of Pediatrics, University Hospital Split, Split (Croatia); Ljubković, J. [Department of Pathology, Forensic Medicine and Cytology, University Hospital Split, Split (Croatia); Gabrić Pandurić, D. [Department of Oral Surgery, School of Dental Medicine, University of Zagreb, Zagreb (Croatia); Saltvig, I. [Jessenius Faculty of Medicine of Commenius, University in Bratislava, Martin (Slovakia); Kutsche, K. [Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg (Germany); Krželj, V. [Department of Pediatrics, University Hospital Split, Split (Croatia); Zemunik, T. [Department of Medical Biology, School of Medicine, University of Split, Split (Croatia)

    2012-09-21

    Oculo-facio-cardio-dental (OFCD) syndrome is a rare X-linked disorder mainly manifesting in females. Patients show ocular, facial, cardiac, and dental abnormalities. OFCD syndrome is caused by heterozygous mutations in the BCOR gene, located in Xp11.4, encoding the BCL6 co-repressor. We report a Croatian family with four female members (grandmother, mother and monozygotic female twins) diagnosed with OFCD syndrome who carry the novel BCOR mutation c.4438C>T (p.R1480*). They present high intrafamilial phenotypic variability with special regard to cardiac defect and cataract that showed more severe disease expression in successive generations. Clinical and radiographic examination of the mother of the twins revealed a talon cusp involving the permanent maxillary right central incisor. This is the first known report of a talon cusp in OFCD syndrome with a novel mutation in the BCOR gene.

  9. The specific features of Guillain–Barré syndrome in Russia: Analysis of 186 cases

    Directory of Open Access Journals (Sweden)

    N. A. Suponeva

    2014-01-01

    Full Text Available The medical records of 186 patients diagnosed with Guillain-Barré syndrome (GBS who had been followed up at the Research Center of Neurology, Russian Academy of Medical Sciences, in 2000 to 2011 were retrospectively analyzed. Most (65 % of the patients had severe GBS; 19 % of the patients were on mechanical ventilation (MV for an average of 21 (13; 48 days. The forms of GBS, such as acute inflammatory demyelinating polyneuropathy (AIDP (n = 141; 78 %, and axonal variants, such as acute motor axonal neuropathy (AMAN, acute sensorimotor axonal neuropathy (AMSAN, i. e. AMAN / AMSAN (n = 39; 22 %, were studied separately. There was a significant difference in the seasonal revalence (p < 0.05. AIDP was encountered evenly throughout the year; AMAN / AMSAN occurred in 46 % of cases in summer. AIDP was followed by acute respiratory viral infection in 35 % of cases; diarrhea wasby the axonal forms in 36 % (p < 0.05. The axonal forms ran a severer course than AIDP: MV was performed twice more frequently (33 and 15 %, respectively; its duration was 6‑fold longer: 90 (46; 102 and 15 (10; 21 days (p < 0.05. AMAN / AMSAN was characterized by a severer neurological status and disability in the acute period, as shown by the NIS, MRCss, INCAT, R-ODS, and Barthel scales; these patients showed a poorer response to pathogenetic therapy (p < 0.05: 59 % with an insufficient effect; 15 % of those with AIDP. After six years, the majority (84 % of the patients with AIDP walked alone and only 16 % were assisted. In the same period, less than half of the patients (40 % with AMAN / AMSAN walked alone and a third (29 % could move with assistance and almost the same percentage (31 % could not walk.Thus, a number of specific features of GBS were found in a Russian population (equal age and sex distribution; a larger percentage of the axonal forms than in European countries and the United States; however, the most characteristics did not differ from the global

  10. Diabetic foot syndrome: Immune-inflammatory features as possible cardiovascular markers in diabetes

    Science.gov (United States)

    Tuttolomondo, Antonino; Maida, Carlo; Pinto, Antonio

    2015-01-01

    Diabetic foot ulcerations have been extensively reported as vascular complications of diabetes mellitus associated with a high degree of morbidity and mortality. Diabetic foot syndrome (DFS), as defined by the World Health Organization, is an “ulceration of the foot (distally from the ankle and including the ankle) associated with neuropathy and different grades of ischemia and infection”. Pathogenic events able to cause diabetic foot ulcers are multifactorial. Among the commonest causes of this pathogenic pathway it’s possible to consider peripheral neuropathy, foot deformity, abnormal foot pressures, abnormal joint mobility, trauma, peripheral artery disease. Several studies reported how diabetic patients show a higher mortality rate compared to patients without diabetes and in particular these studies under filled how cardiovascular mortality and morbidity is 2-4 times higher among patients affected by type 2 diabetes mellitus. This higher degree of cardiovascular morbidity has been explained as due to the observed higher prevalence of major cardiovascular risk factor, of asymptomatic findings of cardiovascular diseases, and of prevalence and incidence of cardiovascular and cerebrovascular events in diabetic patients with foot complications. In diabetes a fundamental pathogenic pathway of most of vascular complications has been reported as linked to a complex interplay of inflammatory, metabolic and procoagulant variables. These pathogenetic aspects have a direct interplay with an insulin resistance, subsequent obesity, diabetes, hypertension, prothrombotic state and blood lipid disorder. Involvement of inflammatory markers such as IL-6 plasma levels and resistin in diabetic subjects as reported by Tuttolomondo et al confirmed the pathogenetic issue of the a “adipo-vascular” axis that may contribute to cardiovascular risk in patients with type 2 diabetes. This “adipo-vascular axis” in patients with type 2 diabetes has been reported as characterized

  11. Tumor microsatellite instability and clinicopathologic features in Iranian colorectal cancer patients at risk for Lynch syndrome

    Directory of Open Access Journals (Sweden)

    Mehrdad Zeinalian

    2015-01-01

    Full Text Available Background: Microsatellite instability (MSI is a mutational signature that is the hallmark of Lynch syndrome, and MSI testing is a cost-effective method to screen the disease. Since there is no enough data about MSI status and associated clinicopathologic features of hereditary nonpolyposis colorectal cancer (HNPCC in Iran, our study is a new trial to describe them in center of Iran (Isfahan. Materials and Methods: It is a descriptive retrospective study to screen HNPCC families using Amsterdam II criteria in Central Iran within 2000-2013. For MSI testing, we used a commercially available kit evaluating mononucleotide markers (BAT-25, BAT-26, MON0-27, NR-21 and NR-24. After a fluorescent multiplex polymerase chain reaction amplification of the markers, samples were sequenced to fragment analysis. Data analysis was performed using SPSS 16 software (SPSS Inc., Chicago, IL, USA. Results: Overall, 31 of 45 screened HNPCC families were eventually included to MSI testing. Totally, 9/31 patients (29.0% showed MSI in their tumor tissues. BAT-26 was the most instable marker with instability in 7/24 MSI tumors (29.2%. The mean age at diagnosis in microsatellite stable (MSS, MSI-Low (MSI-L, and MSI-High (MSI-H probands was respectively 44.7 (standard deviation [SD] = 11.83, 51.7 (SD = 16.17, and 36.0 (SD = 3.41 years. The most common tumor sites in MSS, MSI-L, and MSI-H probands were rectosigmoid (∼72.8%, rectum (66.7% and right colon (50.0%, respectively. Of 186 cancer patients among 31 HNPCC families, 86 patients (46.2% had colorectal cancer (CRC and 100 patients (53.8% had extracolonic cancers. The average of CRC affected members among MSS, MSI-L, and MSI-H groups of our HNPCC families was 2.2 (SD = 1.30, 3.3 (SD = 3.21, and 4.7 (SD = 2.42 patients per family, respectively. Stomach with 18.3% and 26.7% of all extracolonic cancers were most common involved organ in MSS and MSI-H families, respectively. Conclusion: Our different molecular results could

  12. Maffucci syndrome and intracranial chondrosarcomas: a case report featuring spontaneous resolution of sixth nerve palsy.

    Science.gov (United States)

    Munro, Monique; Costello, Fiona; Burrowes, David; Yau, Ryan

    2015-03-01

    Maffucci syndrome is a rare disease process characterized by enchondromatosis with cutaneous hemangiomatosis. We report a 20-year-old woman with Maffucci syndrome with a 5-day history of diplopia. She was found to have a left sixth nerve palsy due to a parasellar chondrosarcoma. Three weeks later, the patient's diplopia spontaneously resolved. This unusual clinical course prompted us to review frequency of sixth nerve palsy with skull base neoplasms and the phenomenon of spontaneous resolution of diplopia.

  13. Clinicopathological features of progressive renal involvement in TAFRO syndrome: A case report and literature review.

    Science.gov (United States)

    Tanaka, Mari; Tsujimoto, Hiraku; Yamamoto, Kojiro; Shimoda, Saeko; Oka, Kazumasa; Takeoka, Hiroya

    2017-10-01

    TAFRO syndrome is a systemic inflammatory disease characterized by a constellation of symptoms: Thrombocytopenia, Anasarca, MyeloFibrosis, Renal dysfunction, and Organomegaly. Progressive renal insufficiency is a predominant symptom; however, the mechanism of acute kidney injury (AKI) remains unclear, probably because severe thrombocytopenia prevents kidney biopsy. We report a rare case of TAFRO syndrome with histologically confirmed renal involvement. A 70-year-old man developed fever, anasarca, AKI, thrombocytopenia, and hepatosplenomegaly. Plasma vascular endothelial growth factor and serum interleukin-6 levels were significantly elevated. The diagnosis of TAFRO syndrome was made based on his clinical and laboratory findings. Kidney biopsy was performed for the evaluation of AKI and provided a diagnosis of membranoproliferative glomerulonephritis-like lesions due to endothelial injury. Glomerular capillary lumens were extremely narrowed or occluded by endothelial swelling, and marked widening of the subendothelial space by electron-lucent material resulted in mesangiolysis and a double-contoured glomerular basement membrane with no immune complex deposits. The patient required temporary hemodialysis due to oliguric AKI, but steroid therapy rapidly improved renal function. Typically, patients with progressive renal involvement in TAFRO syndrome rapidly develop oliguric or anuric AKI. This report suggests that the reduction of glomerular perfusion by glomerular endothelial injury might be a primary factor in the progressive AKI of TAFRO syndrome. Our case and the literature review indicate that steroid and/or biological therapies result in highly favorable renal outcomes in patients with progressive AKI in TAFRO syndrome.

  14. The effect of mouth breathing on dentofacial morphology of growing child.

    Science.gov (United States)

    Malhotra, S; Pandey, R K; Nagar, A; Agarwal, S P; Gupta, V K

    2012-01-01

    The oral mode of respiration cause postural adaptations of structures in the head and neck region producing the effect on the positional relationship of the jaws. The aim of this study is to verify the skeletal relationship of mouth and nose breathing child. A cross sectional study was performed to assess the association of changed mode of respiration with dentofacial growth. One hundred children among which 54 were mouth breathers and 46 were nasal breathers of 6-12 years of age were submitted to clinical examination and cephalometric radiographical analysis. Statistical analysis : Chi-square test for proportions and independent sample's "t" test for parametric data is used. The mean values of N-Me (P<0.001) ANS-Me (P<0.001) and SN-GoGn (P<0.001) for mouth breathers is significantly higher. ArGo-GoMe (P=0.003) and (P<0.011) for 6-9 and 9-12 years age group, respectively, were significantly low in nasal breathers group. Changed mode of respiration was associated with increased facial height, mandibular plane angle and gonial angle.

  15. The effect of mouth breathing versus nasal breathing on dentofacial and craniofacial development in orthodontic patients.

    Science.gov (United States)

    Harari, Doron; Redlich, Meir; Miri, Shalish; Hamud, Tachsin; Gross, Menachem

    2010-10-01

    To determine the effect of mouth breathing during childhood on craniofacial and dentofacial development compared to nasal breathing in malocclusion patients treated in the orthodontic clinic. Retrospective study in a tertiary medical center. Clinical variables and cephalometric parameters of 116 pediatric patients who had undergone orthodontic treatment were reviewed. The study group included 55 pediatric patients who suffered from symptoms and signs of nasal obstruction, and the control group included 61 patients who were normal nasal breathers. Mouth breathers demonstrated considerable backward and downward rotation of the mandible, increased overjet, increase in the mandible plane angle, a higher palatal plane, and narrowing of both upper and lower arches at the level of canines and first molars compared to the nasal breathers group. The prevalence of a posterior cross bite was significantly more frequent in the mouth breathers group (49%) than nose breathers (26%), (P = .006). Abnormal lip-to-tongue anterior oral seal was significantly more frequent in the mouth breathers group (56%) than in the nose breathers group (30%) (P = .05). Naso-respiratory obstruction with mouth breathing during critical growth periods in children has a higher tendency for clockwise rotation of the growing mandible, with a disproportionate increase in anterior lower vertical face height and decreased posterior facial height.

  16. Relationship between orofacial function, dentofacial morphology, and bite force in young subjects.

    Science.gov (United States)

    Marquezin, M C S; Gavião, M B D; Alonso, M B C C; Ramirez-Sotelo, L R; Haiter-Neto, F; Castelo, P M

    2014-09-01

    The aim was to evaluate the relationship between orofacial function, dentofacial morphology, and bite force in young subjects. Three hundred and sixteen subjects were divided according to dentition stage (early, intermediate, and late mixed and permanent dentition). Orofacial function was screened using the Nordic Orofacial Test-Screening (NOT-S). Orthodontic treatment need, bite force, lateral and frontal craniofacial dimensions and presence of sleep bruxism were also assessed. The results were submitted to descriptive statistics, normality and correlation tests, analysis of variance, and multiple linear regression to test the relationship between NOT-S scores and the studied independent variables. The variance of NOT-S scores between groups was not significant. The evaluation of the variables that significantly contributed to NOT-S scores variation showed that age and presence of bruxism related to higher NOT-S total scores, while the increase in overbite measurement and presence of closed lip posture related to lower scores. Bite force did not show a significant relationship with scores of orofacial dysfunction. No significant correlations between craniofacial dimensions and NOT-S scores were observed. Age and sleep bruxism were related to higher NOT-S scores, while the increase in overbite measurement and closed lip posture contributed to lower scores of orofacial dysfunction. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  17. Relationship between cranial mechanics and dysmorphic dentofacial characteristics: a cross-sectional study.

    Science.gov (United States)

    Fournier-Bourgier, Sophie; Fournier, Romain; Garet, Martin; Feval, Patrick; Gebeile-Chauty, Sarah

    2016-01-01

    The aim of the present study was to evaluate if cranial dysfunctions felt by osteopaths could correlate with sagittal dysmorphologies diagnosed by orthodontists, using cephalometric traces in the sagittal plane. Metholology: One hundred and six children between 6 and 12 years old (42 boys and 64 girls) were tested by an osteopath to determine if the cranial movement felt was considered to be eased in flexion or extension. To test reproducibility intra-operator, 27 randomly selected subjects were tested twice, at a one-month interval by the same osteopath before the start of their orthodontic treatment. These tests were then correlated with a cephalometric analysis of the sagittal plane to determine what type of dysmorphology existed, if any, as well as the angle of the spheno-occipital synchondrosis (SOS). Practitioners systematically found more cranial movement in extension for all the bones in patients in skeletal class II than in the others. Similarly, they systematically found more cranial movement in flexion in patients in skeletal class III than in the other skeletal classes. However, there was no significant difference found in SOS angulation between skeletal classes I, II, and III. This study tends to confirm the correlation, described previously by orthodontists, between the mobility of the bones of the cranial vault and dysmorphic dentofacial characteristics in the sagittal plane. Anomalies during development could lead to the typical cranial characteristics of flexion or extension. As such, these situations could be related to skeletal classes III and II respectively.

  18. The effect of mouth breathing on dentofacial morphology of growing child

    Directory of Open Access Journals (Sweden)

    S Malhotra

    2012-01-01

    Full Text Available Backround: The oral mode of respiration cause postural adaptations of structures in the head and neck region producing the effect on the positional relationship of the jaws. Aim: The aim of this study is to verify the skeletal relationship of mouth and nose breathing child. Study design: A cross sectional study was performed to assess the association of changed mode of respiration with dentofacial growth. Materials and Methods : One hundred children among which 54 were mouth breathers and 46 were nasal breathers of 6-12 years of age were submitted to clinical examination and cephalometric radiographical analysis. Statistical analysis : Chi-square test for proportions and independent sample′s ′t′test for parametric data is used. Result: The mean values of N-Me (P<0.001 ANS-Me (P<0.001 and SN-GoGn (P<0.001 for mouth breathers is significantly higher. ArGo-GoMe (P=0.003 and (P<0.011 for 6-9 and 9-12 years age group, respectively, were significantly low in nasal breathers group. Conclusions: Changed mode of respiration was associated with increased facial height, mandibular plane angle and gonial angle.

  19. [CARDIORENAL SYNDROME: CLINICAL FEATURES, EARLY DIAGNOSIS AND TREATMENT AT FAMILY MEDICINE].

    Science.gov (United States)

    Marković, B Bergman

    2016-12-01

    The interdependent damage to the heart and kidney organ systems is defined as cardiorenal syndrome, a complex pathophysiological disorder of the heart and kidney in which acute or chronic dysfunction of one organ can lead to acute or chronic damage to the other. Identification and early diagnosis of some subtypes of cardiorenal syndrome very often begin at family physician office, however, the use of simple and reliable diagnostic procedures such as MICE score using ECG and biomarkers has not been implemented yet. The clinical picture, diagnosis and treatment vary according to the 5 cardiorenal syndrome subtypes, as described herein. Rational diagnosis of heart failure at family medicine office should include biomarkers (BNP and NT-pro BNP) before performing ultrasound of the heart, while for kidneys creatinine and estimated glomerular filtration rate are still in use, but not cysteine C and NGAL. Diagnostic procedure for suspected heart failure at family medicine office should include kidney function estimate and vice versa. Access to treatment of cardiorenal syndrome differs depending on the specialty to which the patient is referred first, i.e. consultant examination, cardiologist or nephrologist. A multidisciplinary approach to treatment of cardiorenal syndrome is still lacking.

  20. Features of burnout syndrome development in healthcare workers with different types of work motivation

    Directory of Open Access Journals (Sweden)

    Vezhnovets T.A.

    2016-05-01

    Full Text Available The article presents the results of researches of peculiarities of burnout syndrome formation in healthcare workers with different types of work motivation. It is discovered that the syndrome is formed for each motivational type as mechanism of psychological protection against the action of certain stressful factors, namely: for instrumental type – an excessive concentration on obtaining material rewards; for professional type – an excessive control of emotions in substantial professional communications and high psycho-emotional overload; for patriotic type – high level of dependence on social approval, a high level of communicative activity, a high level of psycho-emotional overload, for economical type – distrust, for lumpenized – any labor. Prevention of burnout syndrome in healthcare workers has to be realized taking into account peculiarities of psycho-traumatic factors depending on the type of work motivation.

  1. Partial Oculocutaneous Albinism: Two Siblings with Features of both Hermansky Pudlak and Waardenburg's Syndrome.

    Science.gov (United States)

    Ishaq, Mazhar; Niazi, Muhammad Khizar; Khan, Muhammad Saim; Nadeem, Yasser

    2015-04-01

    Albinism is an inherited abnormality of melanin synthesis with incidence of one per 20,000 births. Its clinical manifestations are related to the reduction or absence of pigmentation in the visual system and/or the skin and teguments. The clinical spectrum of Oculocutaneous Albinism (OCA) has four types ranging from OCA 1 - 4, of which OCA 1, A-1 is the most severe form. Partial cutaneous albinism which is a subtype of OCA is associated with systemic immunodeficiency disorders like Chediak Higashi (CHS), Griscelli (GS) and Hermansky-Pudlak (HPS) syndromes. A7 years boy was labeled initially as a case of Hermansky Pudlak syndrome at the age of 01 year. He as well as his 4 years old younger brother when examined in detail along with audiological investigations were diagnosed as a rare presentation of both Hermansky Pudlak and Waardenburg's syndrome.

  2. Clinical, Etiologic, and Histopathologic Features of Stevens-Johnson Syndrome During an 8-Year Period at Mayo Clinic

    Science.gov (United States)

    Wetter, David A.; Camilleri, Michael J.

    2010-01-01

    OBJECTIVE: To examine clinical, etiologic, and histologic features of Stevens-Johnson syndrome and to identify possible correlates of clinical disease severity related to etiologic and histopathologic findings. PATIENTS AND METHODS: This is a retrospective review of patients seen at Mayo Clinic between January 1, 2000, and December 31, 2007. RESULTS: Of 27 patients (mean age, 28.1 years), 22 (81%) had involvement of 2 or more mucous membranes, and 19 (70%) had ocular involvement. Medications, most commonly antibiotics and anticonvulsants, were causative in 20 patients. Mycoplasma pneumoniae infection caused 6 of the 27 cases. Corticosteroids were the most common systemic therapy. No patients with mycoplasma-induced Stevens-Johnson syndrome had internal organ involvement or required treatment in the intensive care unit, in contrast to 4 patients each in the drug-induced group. Three patients had chronic ocular sequelae, and 1 died of complications. Biopsy specimens from 13 patients (48%) showed epidermal necrosis (8 patients), basal vacuolar change (10 patients), and subepidermal bullae (10 patients). Biopsy specimens from 11 patients displayed moderate or dense dermal infiltrate. Histologic features in drug-induced cases included individual necrotic keratinocytes, dense dermal infiltrate, red blood cell extravasation, pigment incontinence, parakeratosis, and substantial eosinophils or neutrophils. CONCLUSION: Our clinical and etiologic findings corroborate those in previous reports. M pneumoniae—induced Stevens-Johnson syndrome manifested less severely than its drug-induced counterpart. The limited number of biopsies precludes unequivocal demonstration of histopathologic differences between drug-induced and M pneumoniae—induced Stevens-Johnson syndrome. PMID:20118388

  3. Features of the Pathogenetic Mechanisms of Regional Blood Flow Disturbances in Diabetic Foot Syndrome (Lliterature Review

    Directory of Open Access Journals (Sweden)

    О.B. Rusak

    2015-09-01

    Full Text Available Diabetes mellitus (DM is recognized as one of the most important noninfectious disease in the world, the prevalence of which became pandemic. In the list of late complications of DM, diabetic foot syndrome is a leader, causing early disability and high mortality. According to the International Diabetes Federation, from 25 to 47 % of hospital admissions of patients with DM is associated with purulent-destructive lesions of the foot as a result of chronic tissue ischemia. This review highlights the main pathophysiological mechanisms of microcirculatory disorders in diabetic foot syndrome, which lead to critical lower limb ischemia.

  4. Metabolic Syndrome in Children: Clinical Picture, Features of Lipid and Carbohydrate Metabolism

    Directory of Open Access Journals (Sweden)

    O.S. Bobrykovych

    2013-09-01

    Full Text Available The study included 225 children aged from 14 to 18 years with various manifestations of the metabolic syndrome in neighborhoods, different by iodine provision. The physical development (height, weight, body mass index, waist and hip circumferences has been examined. Biochemical investigations are focused on the study of lipid and carbohydrate metabolism in children. It is found that children who live in mountains have more severe obesity. In parallel with the increase of the degree of obesity, disorders of lipid and carbohydrate metabolism aggravate in children with sings of metabolic syndrome.

  5. Ultrasonography and MRI features of the Mayer–Rokitansky–Küster–Hauser syndrome

    International Nuclear Information System (INIS)

    Rousset, P.; Raudrant, D.; Peyron, N.; Buy, J.-N.; Valette, P.-J.; Hoeffel, C.

    2013-01-01

    Although Mayer–Rokitansky–Küster–Hauser syndrome is a rare condition with a reported incidence of 1/4500 female live births, it represents the second most common cause of primary amenorrhea and has psychologically devastating consequences. The radiologist plays a pivotal role in both making the accurate initial diagnosis of this condition and assessing findings that may contribute to treatment planning. The purpose of this article is to provide an overview of the capabilities of ultrasound and magnetic resonance imaging (MRI) for the diagnosis and management of this syndrome with emphasis on the relevant clinical and surgical findings and to describe potential associated abnormalities and differential diagnosis

  6. Capgras syndrome: a review of the neurophysiological correlates and presenting clinical features in cases involving physical violence.

    Science.gov (United States)

    Bourget, Dominique; Whitehurst, Laurie

    2004-11-01

    Acts of violence have been frequently reported in cases of Capgras syndrome (CS), a misidentification syndrome characterized by the delusional belief that imposters have replaced people familiar to the individual. CS has been observed in many neuropsychiatric and organic disorders, and neuroimaging studies indicate an association between CS and right hemisphere abnormalities. However, CS has received limited attention from a forensic psychiatric perspective. We propose that elucidating demographic and clinical features noted in cases of violence secondary to CS may highlight important factors in the progression of CS to violence. We review the neurophysiological correlates and clinical factors observed in CS and present characteristics of a series of cases that demonstrate the potential of CS patients for severe physical violence toward the misidentified person. For patients with CS involving assault, we present and discuss commonly reported demographic and clinical features that may contribute to an increased risk for violence. An understanding of the presenting clinical features of CS resulting in aggressive acts may assist clinicians to assess the potential for violence in these patients.

  7. Features of the Treatment for the Syndrome of Dehydration in Infants and Older Children, Newborns: Fundamentals of Parenteral Rehydration

    Directory of Open Access Journals (Sweden)

    V.I. Snisar

    2016-04-01

    Full Text Available In pediatric practice, the syndrome of dehydration is quite common. In children, the most likely cause of the fluid loss is gastroenteritis syndrome and diarrhea of various origins. These causes are often associated with diarrhea and vomiting that results in the loss of water and electrolytes in various proportions. In contrast to the treatment of critical conditions, such as hypovolemic and septic shock, there is no standardized approach to the correction of mild to moderate syndrome of dehydration. The role of oral rehydration in the prehospital and hospital stage is significantly underestimated. This article is a sign of interest in the unification of approaches to the treatment of such conditions, makes it possible to get acquainted with a generalized view of the treatment and prevention of a variety of adverse reactions on the background of oral and/or parenteral rehydration. Our survey reminds the practitioner about the features of dehydration syndrome in children of different age groups, the importance of taking into account the pathogenesis of various types of dehydration during the diagnosis, de­monstrates the importance of knowledge in the field of infusion media in the context of the therapy balanced in terms of the volume and components, as well as considers the target fluid spaces of the body under pathological losses. We investigate the concept of physiological infusion solution on the basis of evidence-based medicine. This review is advisory, it is based both on the national experience in the treatment of the syndrome of dehydration and foreign resources analysis.

  8. Longitudinal MRI assessment: the identification of relevant features in the development of Posterior Fossa Syndrome in children

    Science.gov (United States)

    Spiteri, M.; Lewis, E.; Windridge, D.; Avula, S.

    2015-03-01

    Up to 25% of children who undergo brain tumour resection surgery in the posterior fossa develop posterior fossa syndrome (PFS). This syndrome is characterised by mutism and disturbance in speech. Our hypothesis is that there is a correlation between PFS and the occurrence of hypertrophic olivary degeneration (HOD) in lobes within the posterior fossa, known as the inferior olivary nuclei (ION). HOD is exhibited as an increase in size and intensity of the ION on an MR image. Intra-operative MRI (IoMRI) is used during surgical procedures at the Alder Hey Children's Hospital, Liver- pool, England, in the treatment of Posterior Fossa tumours and allows visualisation of the brain during surgery. The final MR scan on the IoMRI allows early assessment of the ION immediately after the surgical procedure. The longitudinal MRI data of 28 patients was analysed in a collaborative study with Alder Hey Children's Hospital, in order to identify the most relevant imaging features that relate to the development of PFS, specifically related to HOD. A semi-automated segmentation process was carried out to delineate the ION on each MRI. Feature selection techniques were used to identify the most relevant features amongst the MRI data, demographics and clinical data provided by the hospital. A support vector machine (SVM) was used to analyse the discriminative ability of the selected features. The results indicate the presence of HOD as the most efficient feature that correlates with the development of PFS, followed by the change in intensity and size of the ION and whether HOD occurred bilaterally or unilaterally.

  9. Featural versus Configural Face Processing in a Rare Genetic Disorder: Williams Syndrome

    Science.gov (United States)

    Isaac, L.; Lincoln, A.

    2011-01-01

    Background: Williams syndrome (WMS) is a rare genetic disorder with an estimated prevalence of 1 in 20,000 live births. Among other characteristics, WMS has a distinctive cognitive profile with spared face processing and language skills that contrasts with impairment in the cognitive domains of spatial cognition, problem solving and planning. It…

  10. Superior Vena Cava Syndrome: A Presenting Feature of Mediastinal Germ Cell Tumor

    Directory of Open Access Journals (Sweden)

    Mahua Roy

    2010-04-01

    Full Text Available Superior vena cava syndrome (SVCS is rare in children. Non-Hodgkin’s Lymphoma (NHL is the most common cause of SVCS in children. This report an adolescent male who presented with SVCS due to mixed germ cell tumor (GCT of the anterior mediastinum with predominant yolk cell component. Such etiology of SVCS is rarely reported.

  11. Featural versus configural face processing in a rare genetic disorder: Williams syndrome

    NARCIS (Netherlands)

    Isaac, L.; Lincoln, A.

    2011-01-01

    Background Williams syndrome (WMS) is a rare genetic disorder with an estimated prevalence of 1 in 20 000 live births. Among other characteristics, WMS has a distinctive cognitive profile with spared face processing and language skills that contrasts with impairment in the cognitive domains of

  12. Clinical features and imaging findings in a case of Capgras syndrome.

    Science.gov (United States)

    Luca, Maria; Bordone, Andrea; Luca, Antonina; Patti, Andrea; Sortino, Giuseppe; Calandra, Carmela

    2013-01-01

    Capgras syndrome consists of the delusional belief that a person or persons have been replaced by doubles or impostors. It can occur in the context of both psychiatric and organic illness, and seems to be related to lesions of the bifrontal and right limbic and temporal regions. Indeed, magnetic resonance imaging has revealed brain lesions in patients suffering from Capgras syndrome. This case study reports the findings of a thorough diagnostic evaluation in a woman suffering from Capgras syndrome and presenting with the following clinical peculiarities: obsessive modality of presentation of the delusional ideation, intrusiveness of such ideation (that even disturbed her sleep), as well as a sense of alienation and utter disgust towards the double. These characteristics bring to mind the typical aspects of obsessive-compulsive disorder. Neuroanatomic investigation, through magnetic resonance imaging, performed on this patient showed alteration of the bilateral semioval centers, which are brain regions associated with the emotion of disgust and often show alterations in subjects suffering from obsessive-compulsive disorder. Hence, neuroimaging allows researchers to put forward the hypothesis of a common neuroanatomic basis for Capgras syndrome and obsessive-compulsive disorder, at least for cases in which the delusional ideation is associated with deep feelings of disgust and presents with a certain pervasiveness.

  13. Metabolic and Reproductive Features before and during Puberty in Daughters of Women with Polycystic Ovary Syndrome

    OpenAIRE

    Sir-Petermann, Teresa; Codner, Ethel; Pérez, Virginia; Echiburú, Bárbara; Maliqueo, Manuel; Ladrón de Guevara, Amanda; Preisler, Jessica; Crisosto, Nicolás; Sánchez, Fernando; Cassorla, Fernando; Bhasin, Shalender

    2009-01-01

    Context: A significant proportion of the first-degree female relatives of women with polycystic ovary syndrome (PCOS) may be at risk for developing PCOS. However, it is not known at which stage of pubertal development the hormonal and metabolic abnormalities ensue in PCOS.

  14. Molecular genetics and clinical features of Birt-Hogg-Dubé syndrome.

    Science.gov (United States)

    Schmidt, Laura S; Linehan, W Marston

    2015-10-01

    Birt-Hogg-Dubé (BHD) syndrome is an inherited renal cancer syndrome in which affected individuals are at risk of developing benign cutaneous fibrofolliculomas, bilateral pulmonary cysts and spontaneous pneumothoraces, and kidney tumours. Bilateral multifocal renal tumours that develop in BHD syndrome are most frequently hybrid oncocytic tumours and chromophobe renal carcinoma, but can present with other histologies. Germline mutations in the FLCN gene on chromosome 17 are responsible for BHD syndrome--BHD-associated renal tumours display inactivation of the wild-type FLCN allele by somatic mutation or chromosomal loss, confirming that FLCN is a tumour suppressor gene that fits the classic two-hit model. FLCN interacts with two novel proteins, FNIP1 and FNIP2, and with AMPK, a negative regulator of mTOR. Studies with FLCN-deficient cell and animal models support a role for FLCN in modulating the AKT-mTOR pathway. Emerging evidence links FLCN with a number of other molecular pathways and cellular processes important for cell homeostasis that are frequently deregulated in cancer, including regulation of TFE3 and/or TFEB transcriptional activity, amino-acid-dependent mTOR activation through Rag GTPases, TGFβ signalling, PGC1α-driven mitochondrial biogenesis, and autophagy. Currently, surgical intervention is the only therapy available for BHD-associated renal tumours, but improved understanding of the FLCN pathway will hopefully lead to the development of effective forms of targeted systemic therapy for this disease.

  15. Clinical features and imaging findings in a case of Capgras syndrome

    Science.gov (United States)

    Luca, Maria; Bordone, Andrea; Luca, Antonina; Patti, Andrea; Sortino, Giuseppe; Calandra, Carmela

    2013-01-01

    Capgras syndrome consists of the delusional belief that a person or persons have been replaced by doubles or impostors. It can occur in the context of both psychiatric and organic illness, and seems to be related to lesions of the bifrontal and right limbic and temporal regions. Indeed, magnetic resonance imaging has revealed brain lesions in patients suffering from Capgras syndrome. This case study reports the findings of a thorough diagnostic evaluation in a woman suffering from Capgras syndrome and presenting with the following clinical peculiarities: obsessive modality of presentation of the delusional ideation, intrusiveness of such ideation (that even disturbed her sleep), as well as a sense of alienation and utter disgust towards the double. These characteristics bring to mind the typical aspects of obsessive-compulsive disorder. Neuroanatomic investigation, through magnetic resonance imaging, performed on this patient showed alteration of the bilateral semioval centers, which are brain regions associated with the emotion of disgust and often show alterations in subjects suffering from obsessive-compulsive disorder. Hence, neuroimaging allows researchers to put forward the hypothesis of a common neuroanatomic basis for Capgras syndrome and obsessive-compulsive disorder, at least for cases in which the delusional ideation is associated with deep feelings of disgust and presents with a certain pervasiveness. PMID:23950650

  16. Clinical and genetic features of pediatric acute lymphoblastic leukemia in Down syndrome in the Nordic countries

    DEFF Research Database (Denmark)

    Lundin, Catarina; Forestier, Erik; Klarskov Andersen, Mette

    2014-01-01

    BACKGROUND: Children with Down syndrome (DS) have an increased risk for acute lymphoblastic leukemia (ALL). Although previous studies have shown that DS-ALL differs clinically and genetically from non-DS-ALL, much remains to be elucidated as regards genetic and prognostic factors in DS-ALL. METHODS...

  17. Clinical features and molecular genetic analysis of a boy with Prader-Willi syndrome caused by an imprinting defect

    DEFF Research Database (Denmark)

    Schulze, A; Hansen, Claus; Baekgaard, P

    1997-01-01

    Prader-Willi syndrome (PWS) is a neuroendocrine disorder caused by a non-functioning paternally derived gene(s) within the chromosome region 15q11-q13. Most cases result from microscopically visible deletions of paternal origin, or maternal uniparental disomy of chromosome 15. In both instances...... no recurrence has been reported. In rare cases, PWS is associated with lack of gene expression from the paternal allele due to an imprinting defect. We report the clinical features and the molecular genetic analysis of the first Danish child with PWS due to a defect of the putative imprinting centre (IC). When...

  18. Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe

    DEFF Research Database (Denmark)

    Barisic, Ingeborg; Boban, Ljubica; Loane, Maria

    2015-01-01

    Meckel-Gruber Syndrome is a rare autosomal recessive lethal ciliopathy characterized by the triad of cystic renal dysplasia, occipital encephalocele and postaxial polydactyly. We present the largest population-based epidemiological study to date using data provided by the European Surveillance......, but regional differences were observed. There were 145 (75.9%) terminations of pregnancy after prenatal diagnosis, 13 (6.8%) fetal deaths, 33 (17.3%) live births. In addition to cystic kidneys (97.7%), encephalocele (83.8%) and polydactyly (87.3%), frequent features include other central nervous system...

  19. Variations of the interleukin-6 promoter are associated with features of the metabolic syndrome in Caucasian Danes

    DEFF Research Database (Denmark)

    Hamid, Y H; Rose, C S; Urhammer, S A

    2005-01-01

    The cytokine interleukin 6 (IL-6) is an essential regulator of the acute phase response associated with insulin-resistant states including type 2 diabetes and obesity. Three polymorphisms at positions -597, -572, and -174 of the IL6 promoter have been reported to influence IL6 transcription. The ....... The aim of this study was to investigate whether the IL6 promoter polymorphisms were associated with features of the WHO-defined metabolic syndrome and related quantitative traits in 7,553 Caucasian Danes....

  20. Clinical features and imaging findings in a case of Capgras syndrome

    Directory of Open Access Journals (Sweden)

    Luca M

    2013-08-01

    Full Text Available Maria Luca,1 Andrea Bordone,1 Antonina Luca,2 Andrea Patti,1 Giuseppe Sortino,3 Carmela Calandra11Department of Medical and Surgery Specialties, Psychiatry Unit, 2Department GF Ingrassia, Section of Neuroscience, 3Department of Diagnostic Imaging, Radiology Unit, University Hospital Policlinico-Vittorio Emanuele, Catania, Sicily, ItalyAbstract: Capgras syndrome consists of the delusional belief that a person or persons have been replaced by doubles or impostors. It can occur in the context of both psychiatric and organic illness, and seems to be related to lesions of the bifrontal and right limbic and temporal regions. Indeed, magnetic resonance imaging has revealed brain lesions in patients suffering from Capgras syndrome. This case study reports the findings of a thorough diagnostic evaluation in a woman suffering from Capgras syndrome and presenting with the following clinical peculiarities: obsessive modality of presentation of the delusional ideation, intrusiveness of such ideation (that even disturbed her sleep, as well as a sense of alienation and utter disgust towards the double. These characteristics bring to mind the typical aspects of obsessive-compulsive disorder. Neuroanatomic investigation, through magnetic resonance imaging, performed on this patient showed alteration of the bilateral semioval centers, which are brain regions associated with the emotion of disgust and often show alterations in subjects suffering from obsessive-compulsive disorder. Hence, neuroimaging allows researchers to put forward the hypothesis of a common neuroanatomic basis for Capgras syndrome and obsessive-compulsive disorder, at least for cases in which the delusional ideation is associated with deep feelings of disgust and presents with a certain pervasiveness.Keywords: Capgras syndrome, magnetic resonance imaging, electroencephalography, obsessive-compulsive disorder, semioval centers

  1. Detection of metabolic syndrome features among childhood cancer survivors: A target to prevent disease

    Directory of Open Access Journals (Sweden)

    Adriana Aparecida Siviero-Miachon

    2008-08-01

    Full Text Available Adriana Aparecida Siviero-Miachon1, Angela Maria Spinola-Castro1, Gil Guerra-Junior21Division of Pediatric Endocrinology, Department of Pediatrics, Federal University of Sao Paulo – UNIFESP/EPM, Brazil; 2Division of Pediatric Endocrinology, Department of Pediatrics, State University of Campinas – FCM/UNICAMP, BrazilAbstract: Along with the growing epidemic of obesity, the risk of atherosclerosis, cardiovascular disease morbidity, and mortality are increasing markedly. Several risk factors for cardiovascular disease, such as visceral obesity, glucose intolerance, arterial hypertension, and dyslipidemia commonly cluster together as a condition currently known as metabolic syndrome. Thus far, insulin resistance, and endothelial dysfunction are the primary events of the metabolic syndrome. Several groups have recommended clinical criteria for the diagnosis of metabolic syndrome in adults. Nonetheless, in what concerns children and adolescents, there are no unified definitions, and modified adult criteria have been suggested by many authors, despite major problems. Some pediatric disease states are at risk for premature cardiovascular disease, with clinical coronary events occurring very early in adult life. Survivors of specific pediatric cancer groups, particularly acute lymphocytic leukemia, central nervous system tumors, sarcomas, lymphomas, testicular cancer, and following bone marrow transplantation, may develop metabolic syndrome traits due to: hormonal deficiencies (growth hormone deficiency, thyroid dysfunction, and gonadal failure, drug or radiotherapy damage, endothelial impairment, physical inactivity, adipose tissue dysfunction, and/or drug-induced magnesium deficiency. In conclusion, some primary and secondary prevention remarks are proposed in order to reduce premature cardiovascular disease risk in this particular group of patients.Keywords: metabolic syndrome X, cardiovascular diseases, insulin resistance, obesity, growth hormone

  2. Ultrasound features in trisomy 13 (Patau syndrome) and trisomy 18 (Edwards syndrome) in a consecutive series of 47 cases

    OpenAIRE

    Kroes, I.; Janssens, S.; Defoort, P.

    2014-01-01

    Objective: To determine and list the variety of the predominant appeal signs leading to referral and their accompanying features found during specialized ultrasound evaluation in foetuses with trisomy 13 and trisomy 18. Materials and Methods: In a period of thirty years, 1110 cases of foetal malformations were detected during specialized echographic evaluation. 47 Of these cases were foetuses with trisomy 13 or trisomy 18. We evaluated the predominant signs leading to referral, the difference...

  3. Prenatal diagnosis of a fetus with unbalanced translocation (4;13)(p16;q32) with overlapping features of Patau and Wolf-Hirschhorn syndromes.

    Science.gov (United States)

    Tapper, Jill K; Zhang, Shuliu; Harirah, Hassan M; Panova, Neli I; Merryman, Linda S; Hawkins, Judy C; Lockhart, Lillian H; Gei, Alfredo B; Velagaleti, Gopalrao V N

    2002-01-01

    Wolf-Hirschhorn syndrome (WHS) and Patau syndrome are two of the most severe conditions resulting from chromosome abnormalities. WHS is caused by a deletion of 4p16, while Patau syndrome is caused by trisomy for some or all regions of chromosome 13. Though the etiologies of these syndromes differ, they share several features including pre- and postnatal growth retardation, microcephaly, cleft lip and palate, and cardiac anomalies. We present here a female fetus with deletion of 4p16 --> pter and duplication of 13q32 --> qter due to unbalanced segregation of t(4;13)(p16;q32) in the father. She displayed overlapping features of both of these syndromes on ultrasound. To the best of our knowledge, this is the first report of a fetus with both partial trisomy 13 and deletion of 4p16, the critical region for WHS. Copyright 2002 S. Karger AG, Basel

  4. Diagnosis and treatment planning of orthodontic patients with 3-dimensional dentofacial records.

    Science.gov (United States)

    Manosudprasit, Amornrut; Haghi, Arshan; Allareddy, Veerasathpurush; Masoud, Mohamed I

    2017-06-01

    Cephalometrics has been the foundation of orthodontic diagnosis for many years. However, for many orthodontic patients, a lateral cephalogram might not be necessary. The aim of this study was to compare the diagnosis and treatment planning agreement between standard records and nonradiographic 3-dimensional (3D) dentofacial photogrammetry records. Twenty patients had standard orthodontic records taken for their treatment as well as extraoral and intraoral 3D images. Twelve evaluators examined the standard records and then completed diagnosis and treatment planning questionnaires. They repeated the process 4 to 6 weeks later by using 3D photographic images along with the panoramic radiographs. Each evaluator also evaluated 2 random orthodontic cases twice with each method to evaluate consistency within each method. At the end of study, each evaluator was asked to complete a survey to document his or her experiences with the 3D photogrammetry method. Descriptive and kappa statistics were used to determine the agreement. Most diagnosis parameters had fair agreement between the methods and within each method. Skeletal and dental relationships had excellent agreement between and within the methods as well as most treatment decisions such as the need for extractions and surgery. Most evaluators (91.7%) thought that cephalometric x-rays would be needed only some of the time in diagnosis and treatment planning. Most evaluators (83.33%) thought that cephalometric radiographs are not needed in patients with a Class I ± a quarter cusp with crowding or spacing. Most diagnostic decisions had fair agreement within and between the 2 methods. The decision to extract and the need for orthognathic surgery had excellent agreement between the cephalometric and photogrammetric methods. The majority of examiners agreed that patients with Class I malocclusions ± a quarter cusp with no obvious skeletal discrepancy can be diagnosed and planned without a cephalometric radiograph

  5. Oral Health and Dentofacial Anomalies among β-THALASSEMIA Major in Erbil City, Iraq

    Science.gov (United States)

    Saeed, Lamya M.; Majeed, Vian O.

    2010-04-01

    Thalassemias are a heterogeneous group of genetic disorders characterized by hypochromic microcytic anemia that caused by deficient synthesis of one or more of globin subunits of human hemoglobin. This study has been conducted in the Northern part of Iraq among 238 subjects having β-thalassemia major (BTM). To evaluate their oral health status, dentofacial anomalies of patients who attended the Thalassemic center in Erbil city, were compared to 258 subjects of a control group according to the criteria suggested by the WHO in 1997, which is used to assess permanent teeth. Only 8.51% of the total study group demonstrated crowding of anterior teeth in one or both segments compared to the control group. Spacing in the incisal segments was higher, namely 19.23% in BTM compared to13.6% in the control group with a statistically significant difference (p<0.05). A higher percentage of both study and control groups were having an overbite grade (0.3-5.0 mm) of 49.59%, and 56.81%, respectively. It was found that the distal deviation from the normal anteroposterior molar relation in BTM was higher compared to the control group. Nearly similar percentages of patients were found to have an over jet grade(0.0-3.5 mm). Values of plaque and gingival health indices were recorded to be higher among the study group (plaque index = 1.570, ∓0.321 and gingival index = 1.205, ∓0.308). Differences were statistically highly significant for all indices (p<0.01). This may indicate that there is a negative attitude and poor dental knowledge of thalassemic subjects and their parents toward proper oral hygiene and dental health.

  6. Prevalence of dentofacial abnormalities in children and adolescents with β-thalassaemia major

    Directory of Open Access Journals (Sweden)

    Arun Elangovan

    2013-01-01

    Full Text Available Background: β-thalassaemia major is a hereditary hemolytic anemia and the patients often experience growth retardation, protrusive maxilla, and depressed nasal bride leading to various degrees of malocclusion. Aim: The purpose of this investigation is to find the prevalence of dentofacial abnormalities in β-thalassaemia major patients. Subjects and Methods: Seventy-two patients between 6 and 18 years of age diagnosed with β-thalassaemia major were examined for extraoral abnormalities, malocclusion, oral hygiene, and dental caries. Data obtained were tabulated and statistically analyzed using Chi-square and paired t-test. Results: Thirty-nine (54.2% were males and 33 (45.8% were females. Prominent extraoral abnormalities were found in 41 (56.9% of the individuals. Study population predominantly had class I occlusion (59.7% followed by class II occlusion (23.6% and no class III occlusion. Mean oral hygiene index-simplified score was 2.43 ± 1.24, mean decayed missing filled teeth (DMFT score was 7.10 ± 3.92, and deft was 5.68 ± 3.12. Conclusion: Despite starting regular blood transfusion at an early age, β-thalassaemia major patients showed marked facial abnormalities. When compared with individuals with no systemic disease, oral hygiene status was similar, but the caries experience was higher in β-thalassaemia major patients. Therefore, emphasis to educate these patients in the prevention and control of dental caries and maintenance of good oral hygiene should be considered.

  7. Impact of malocclusion and dentofacial anomalies on the prevalence and severity of dental caries among adolescents.

    Science.gov (United States)

    Feldens, Carlos Alberto; Dos Santos Dullius, Angela Isabel; Kramer, Paulo Floriani; Scapini, Annarosa; Busato, Adair Luiz Stefanello; Vargas-Ferreira, Fabiana

    2015-11-01

    To investigate the association between malocclusion/dentofacial anomalies and dental caries among adolescents. A cross-sectional study was conducted with 509 adolescents aged 11 to 14 years enrolled at public schools in the city of Osório in southern Brazil. Parents/caregivers answered a structured questionnaire on demographic and socioeconomic variables. A trained examiner recorded the presence of malocclusion (Dental Aesthetic Index [DAI]), traumatic dental injury, and dental caries. Data analysis involved the chi-square, Mann-Whitney, and Kruskal-Wallis tests. Poisson regression with robust variance was used for the multivariable analysis. A total of 44.8% of the adolescents had dental caries (mean DFMT  =  1.33 ± 1.84). The DAI index ranged from 15 to 77 (mean  =  29.0 ± 7.9); 43.6% of the sample had severe malocclusion and 11.6% had traumatic dental injury. The prevalence and severity of dental caries were significantly greater among adolescents with severe malocclusion. The multivariate analysis demonstrated that adolescents with severe or handicapping malocclusion had a 31% greater probability of having dental caries (prevalence ratio: 1.31; 95% CI: 1.02-1.67), independently of demographic, socioeconomic, or clinical aspects. The orthodontic characteristics associated with the occurrence and severity of caries were maxillary irregularity ≥3 mm (P  =  .021) and abnormal molar relationship (P  =  .021). Handicapping malocclusion, maxillary irregularity, and abnormal molar relationship were associated with the occurrence and severity of dental caries. The findings suggest that the prevention and treatment of these conditions can contribute to a reduction in dental caries among adolescents.

  8. Phenotype in girls and women with turner syndrome: Association between dysmorphic features, karyotype and cardio-aortic malformations.

    Science.gov (United States)

    Noordman, Iris; Duijnhouwer, Anthonie; Kapusta, Livia; Kempers, Marlies; Roeleveld, Nel; Schokking, Michiel; Smeets, Dominique; Freriks, Kim; Timmers, Henri; van Alfen-van der Velden, Janiëlle

    2018-01-12

    Turner syndrome (TS) is a genetic disorder characterized by the (partial) absence or a structural aberration of the second sex chromosome and is associated with a variety of phenotypes with specific physical features and cardio-aortic malformations. The objective of this study was to gain a better insight into the differences in dysmorphic features between girls and women with TS and to explore the association between these features, karyotype and cardio-aortic malformations. This prospective study investigated 14 dysmorphic features of TS girls and women using a checklist. Three major phenotypic patterns were recognized (severe phenotype, lymphatic phenotype and skeletal phenotype). Patient data including karyotype and cardio-aortic malformations (bicuspid aortic valve (BAV) and aortic coarctation (COA)) were collected. Associations between the prevalence of dysmorphic features, karyotype and cardio-aortic malformations were analysed using chi 2 -test and odds ratios. A total of 202 patients (84 girls and 118 women) were analysed prospectively. Differences in prevalence of dysmorphic features were found between girls and women. A strong association was found between monosomy 45,X and the phenotypic patterns. Furthermore, an association was found between COA and lymphatic phenotype, but no association was found between karyotype and cardio-aortic malformations. This study uncovered a difference in dysmorphic features between girls and women. Monosomy 45,X is associated with a more severe phenotype, lymphatic phenotype and skeletal phenotype. All patients with TS should be screened for cardio-aortic malformations, because in contrast to previous reports, karyotype and cardio-aortic malformations showed no significant association. Copyright © 2018. Published by Elsevier Masson SAS.

  9. [Early orthodontic treatment of children with dentofacial anomalies in the mixed dentition with the use of fixed appliances].

    Science.gov (United States)

    Arsenina, O I; Ivanova, Yu A; Popova, N V; Popova, A V

    The article summarizes the authors experience in the treatment of patients with dentofacial anomalies in mixed dentition with fixed orthodontic appliances ("system 2×4") and combined treatment type with the use of extraoral device. Indications and contraindications, advantages and disadvantages, special conditions of the treatment, the mechanism of a face-bow action with extraoral traction, the sequence of events during the treatment are described in the article. Clinical cases of early treatment with "system 2×4" and in combination with the face-bow and extraoral traction demonstrate the effectiveness of the methods.

  10. Quality of life of individuals with cleft lip and palate pre- and post-surgical correction of dentofacial deformity.

    Science.gov (United States)

    Beluci, Marli Luiz; Genaro, Katia Flores

    2016-04-01

    To assesses the quality of life and the impact of oral health conditions in the pre- and post-surgical correction of dentofacial deformity of individuals with cleft lip and palate. Quantitative and prospective study in a referral hospital in the period from June 2011 to May 2013. A total of 50 participants responded the questionnaires World Health Organization Quality of Life - Bref (WHOQOL-Bref) and Oral Health Impact Profile - 14 (OHIP-14), approximately 3 days before and 3 to 12 months after surgery. The "t" test for paired samples and Wilcoxon test were used for statistical analysis with a significance level of 5%. After surgery, differences were found in the domains: Physical, Psychological, Environmental and General Questions of the WHOQOL-Bref and domains: Psychological Discomfort, Psychological Disability, Social Disability, Handicap and Overall Score of OHIP-14. Surgical correction of dentofacial deformity improved quality of life and had positive impact of oral health condition. Avaliar a qualidade de vida e o impacto das condições de saúde oral nos períodos pré e pós-correção cirúrgica da deformidade dentofacial de indivíduos com fissura labiopalatina operada. Estudo quantitativo e prospectivo, realizado em um hospital de referência, no período de junho de 2011 a maio de 2013. Participaram 50 indivíduos que responderam aos questionários World Health Organization Quality of Life - Bref (WHOQOL-Bref) e Oral Health Impact Profile - 14 (OHIP-14), aproximadamente 3 dias antes e entre 3 e 12 meses após a cirurgia. Os testes "t" para amostras pareadas e de Wilcoxon foram usados para análise estatística, com nível de significância de 5%. Após a cirurgia, foram encontradas diferenças nos domínios: Físico, Psicológico, Meio Ambiente e nas Questões Gerais do WHOQOL-Bref e nos domínios: Desconforto Psicológico, Limitação Psicológica, Limitação Social, Incapacidade e no Escore Geral do OHIP-14. A correção cirúrgica da deformidade

  11. Severe chronic bronchiolitis as the presenting feature of primary Sjögren's syndrome.

    Science.gov (United States)

    Borie, Raphael; Schneider, Sophie; Debray, Marie-Pierre; Adle-Biasssette, Homa; Danel, Claire; Bergeron, Anne; Mariette, Xavier; Aubier, Michel; Papo, Thomas; Crestani, Bruno

    2011-01-01

    Sjögren's syndrome is a frequent auto-immune disorder with a pulmonary location in almost 10% of the patients. Although bronchial involvement is very common, most patients only complain of cough and this involvement rarely results in severe symptoms or chronic respiratory failure are rarely observed. We describe here 5 patients with severe chronic bronchiolitis revealing primary Sjögren's syndrome. The lung involvement resulted in chronic bronchorrhea, recurrent sinusitis, diffuse bronchiolar nodules with bronchiectasis on the CT scan, and a severe obstructive airway pattern on lung function tests. Improvement was obtained in 4 patients with combination of inhaled corticosteroids, inhaled long acting beta-agonists, and a low dose of erythromycin. Copyright © 2010 Elsevier Ltd. All rights reserved.

  12. Association between C-reactive protein and features of the metabolic syndrome

    DEFF Research Database (Denmark)

    Fröhlich, M; Imhof, A; Berg, Gabriele

    2000-01-01

    OBJECTIVE: To assess the association of circulating levels of C-reactive protein, a sensitive systemic marker of inflammation, with different components of the metabolic syndrome. RESEARCH DESIGN AND METHODS: Total cholesterol (TC), HDL cholesterol, triglycerides, uric acid, BMI , and prevalence...... C-reactive protein and TC (R = 0.19), TG (R = 0.29), BMI (R = 0.32), glucose (R = 0.11), and uric acid (R = 0.14) (all P

  13. Specific features of the hemorrhagic syndrome manifestation under chronic, prolonged and acute irradiation

    International Nuclear Information System (INIS)

    Arlashchenko, N.I.; Gorlov, V.G.; Maksimova, E.N.

    1978-01-01

    To make the hemorrhagic syndrome manifest itself, two phenomena are necessary to coincide in time, they are: a fall in the elasticity of the vascular wall and reduction in the amount of thrombocytes in blood. Depending upon the radiation dose, the vascular wall and the thrombocytic function may be either simultaneously impaired after acute exposure) or dissociated (following prolonged irradiation). Chronic irradiation at small (subliminal) dose rates fails to induce hemorrhagic disorders and death of rats caused by pathologic hemophilia

  14. STURGE WEBER SYNDROME: A CASE REPORT WITH CLINICAL AND RADIOLOGICAL FEATURES

    OpenAIRE

    Puneet; Shifa; Jai; Pawan; Hemant Kumar

    2014-01-01

    : Sturge–Weber syndrome, sometimes referred to as encephalotrigeminal angiomatosis, is a rare congenital neurological and skin disorder. It is one of the phakomatoses and is often associated with port-wine stains of the face, glaucoma, seizures, mental retardation, and ipsilateral leptomeningeal angioma (cerebral malformations and tumors). It is characterized by abnormal blood vessels on the brain surface. Normally, only one side of the brain is affected. We report a case of 1...

  15. Craniofacial features as assessed by lateral cephalometric measurements in children with Down syndrome

    Directory of Open Access Journals (Sweden)

    Veerasathpurush Allareddy

    2016-11-01

    Full Text Available Abstract Objective The objective of the present study is to examine the craniofacial development of patients with Down syndrome (DS and compare them with a neurotypical population. Methods This study is a cross-sectional analysis of lateral cephalometric radiographs of participants with DS. The study population consisted of children and young adults with DS aged 3–25 years. Cephalometric data were summarized by age and sex. Raw and normalized z-scores were computed. One-sample t tests were used to test whether mean z-scores differed from zero. The demographic characteristics between those with or without lateral cephalograms among all study participants were compared by Fisher’s exact tests. Results The study sample comprised of 27 participants with DS. Study subjects demonstrated a class III skeletal pattern. This was more pronounced in the older age groups as compared to younger age groups. Subjects also had an increased proportionate lower anterior face height to total facial height compared to normative standards. Gonial angles, mandibular plane angles, and airway measurements increased with age. Conclusions Patients with Down syndrome present typically with class III skeletal pattern and long lower anterior facial heights. In patients with Down syndrome, comprehensive phase of orthodontic treatment may be best initiated following cessation of growth.

  16. Wolfram syndrome in the Japanese population; molecular analysis of WFS1 gene and characterization of clinical features.

    Science.gov (United States)

    Matsunaga, Kimie; Tanabe, Katsuya; Inoue, Hiroshi; Okuya, Shigeru; Ohta, Yasuharu; Akiyama, Masaru; Taguchi, Akihiko; Kora, Yukari; Okayama, Naoko; Yamada, Yuichiro; Wada, Yasuhiko; Amemiya, Shin; Sugihara, Shigetaka; Nakao, Yuzo; Oka, Yoshitomo; Tanizawa, Yukio

    2014-01-01

    Wolfram syndrome (WFS) is a recessive neurologic and endocrinologic degenerative disorder, and is also known as DIDMOAD (Diabetes Insipidus, early-onset Diabetes Mellitus, progressive Optic Atrophy and Deafness) syndrome. Most affected individuals carry recessive mutations in the Wolfram syndrome 1 gene (WFS1). However, the phenotypic pleiomorphism, rarity and molecular complexity of this disease complicate our efforts to understand WFS. To address this limitation, we aimed to describe complications and to elucidate the contributions of WFS1 mutations to clinical manifestations in Japanese patients with WFS. The minimal ascertainment criterion for diagnosing WFS was having both early onset diabetes mellitus and bilateral optic atrophy. Genetic analysis for WFS1 was performed by direct sequencing. Sixty-seven patients were identified nationally for a prevalence of one per 710,000, with 33 patients (49%) having all 4 components of DIDMOAD. In 40 subjects who agreed to participate in this investigation from 30 unrelated families, the earliest manifestation was DM at a median age of 8.7 years, followed by OA at a median age of 15.8 years. However, either OA or DI was the first diagnosed feature in 6 subjects. In 10, features other than DM predated OA. Twenty-seven patients (67.5%) had a broad spectrum of recessive mutations in WFS1. Two patients had mutations in only one allele. Eleven patients (27.5%) had intact WFS1 alleles. Ages at onset of both DM and OA in patients with recessive WFS1 mutations were indistinguishable from those in patients without WFS1 mutations. In the patients with predicted complete loss-of-function mutations, ages at the onsets of both DM and OA were significantly earlier than those in patients with predicted partial-loss-of function mutations. This study emphasizes the clinical and genetic heterogeneity in patients with WFS. Genotype-phenotype correlations may exist in patients with WFS1 mutations, as demonstrated by the disease onset.

  17. Neonatal Features of The Prader-Willi Syndrome; The Case for Making The Diagnosis During The First Week of Life.

    Science.gov (United States)

    Çizmecioğlu, Filiz Mine; Jones, Jeremy Huw; Forsyth Paterson, Wendy; Kherra, Sakina; Kourime, Mariam; McGowan, Ruth; Shaikh, M Guftar; Donaldson, Malcolm

    2018-03-19

    Early diagnosis is of proven benefit in Prader-Willi syndrome (PWS). We therefore examined key perinatal features to aid early recognition. Data were collected from case records of subjects attending a multi-disciplinary clinic and from a retrospective birth questionnaire. Ninety patients (54 male: 36 female) were seen between 1991-2015, most with paternal deletion (n=56) or maternal isodisomy (n=26). Features included cryptorchidism in 94% males, preterm birth (26%), birthweight 28 days: 1-12 months in 7; and 3.75-10.5 years in 5. Typical PWS features in these 12 infants included hypotonia (100%), feeding difficulties (75%), cryptorchidism (83% males) and reduced FM (66%). Causes other than PWS including neuromuscular disease were considered in nine patients. Neonatal hypotonia, reduced FM, feeding difficulties and cryptorchidism should immediately suggest PWS, yet late diagnosis continues in some cases. Awareness of the typical features of PWS in newborn units is required to allow prompt detection even in the presence of confounding factors such as prematurity.

  18. Fatigue in Sjogren's syndrome: relationship with fibromyalgia, clinical and biologic features.

    Science.gov (United States)

    Priori, R; Iannuccelli, C; Alessandri, C; Modesti, M; Antonazzo, B; Di Lollo, A C; Valesini, G; Di Franco, M

    2010-01-01

    More than two third of patients with primary Sjögren's syndrome (SS) report fatigue. Despite its clinical relevance, only a few studies have examined the relationship of fatigue with the presence of an overlapping Fibromyalgia (FM) and other clinical and biological variables. The aim of this study was to assess the relationship between fatigue and SS disease activity and damage, FM, widespread pain, and mood disorders; finally, the possible correlation between fatigue and a panel of cytokines likely to drive the immunopathological process of the disease has been examined. Thirty-five female patients with primary SS were consecutively enrolled; for each patient the Sjögren's Syndrome Disease Damage Index (SSDDI) and the Sjögren's Syndrome Disease Activity Index (SSDAI) were calculated. Patients rated pain, fatigue and disease activity using a 100-mm VAS and completed Health Assessment Questionnaire (HAQ), the Zung depression (ZSDS) and anxiety scales (ZSAS). 30/35 patients (85.7%) felt unduly tired and the same percentage of patients suffered with pain in more than one area of the body. 7 patients satisfied ACR criteria for FM, representing 20% of the whole cohort and 23% of SS patients with fatigue. No differences were found in disease duration, SSDDI, SSDAI, ZSDS and ZSAS among SS patient with or without FM. In the whole group, fatigue VAS correlated with HAQ, ZSAS, ZSDS and pain VAS but not with age, disease duration, presence and severity of arthritis, SSDDI, SSDAI, or cytokines. In conclusion, an overlapping FM can contribute to, but does not entirely account for fatigue in Italian patients with primary SS.

  19. Very mild features of dysequilibrium syndrome associated with a novel VLDLR missense mutation.

    Science.gov (United States)

    Micalizzi, Alessia; Moroni, Isabella; Ginevrino, Monia; Biagini, Tommaso; Mazza, Tommaso; Romani, Marta; Valente, Enza Maria

    2016-07-01

    Dysequilibrium syndrome (DES) is a non-progressive congenital ataxia characterized by severe intellectual deficit, truncal ataxia and markedly delayed, quadrupedal or absent ambulation. Recessive loss-of-function mutations in the very low density lipoprotein receptor (VLDLR) gene represent the most common cause of DES. Only two families have been reported harbouring homozygous missense mutations, both with a similarly severe phenotype. We report an Italian girl with very mild DES caused by the novel homozygous VLDLR missense mutation p.(C419Y). This unusually benign phenotype possibly relates to a less disruptive effect of the mutation, falling within a domain (EGF-B) not predicted as crucial for the protein function.

  20. MR features of a case of afferent loop syndrome presenting as obstructive jaundice

    International Nuclear Information System (INIS)

    Chevallier, P.; Souci, J.; Oddo, F.; Diaine, B.; Padovani, B.; Gueyffier, C.

    2001-01-01

    The afferent loop syndrome corresponds to an acute or chronic obstruction of the afferent loop following a partial gastrectomy with Billroth II gastro-jejunal anastomosis. We describe the case of a 77-year-old man with history of partial gastrectomy for peptic ulcer disease performed 31 years ago and currently admitted for jaundice and poor general status. MR imaging showed dilatation of biliary and pancreatic ducts and showed a soft tissue mass between the afferent loop and the residual stomach. Endoscopy showed complete obstruction of the afferent loop by a biopsy-proven adenocarcinoma. The patient died of sepsis shortly after endoscopy of septicemia. (authors)

  1. Effects of Human C-Reactive Protein on Pathogenesis of Features of the Metabolic Syndrome

    Czech Academy of Sciences Publication Activity Database

    Pravenec, Michal; Kajiya, T.; Zídek, Václav; Landa, Vladimír; Mlejnek, Petr; Šimáková, Miroslava; Šilhavý, Jan; Malínská, H.; Oliyarnyk, O.; Kazdová, L.; Fan, J.; Wang, J.; Kurtz, T. W.

    2011-01-01

    Roč. 57, č. 4 (2011), s. 731-737 ISSN 0194-911X R&D Projects: GA MZd(CZ) NS9759; GA MŠk(CZ) ME08006; GA MŠk(CZ) 1M0520; GA ČR(CZ) GAP301/10/0290; GA ČR GAP303/10/0505; GA AV ČR(CZ) IAA500110805 Grant - others:EC(XE) HEALTH-F4-2010-241504 Institutional research plan: CEZ:AV0Z50110509 Keywords : C-reactive protein * metabolic syndrome * transgenic rat Subject RIV: FB - Endocrinology, Diabetology, Metabolism, Nutrition Impact factor: 6.207, year: 2011

  2. Radiological features of Goltz syndrome: Focal dermal hypoplasia. A report of two cases

    Energy Technology Data Exchange (ETDEWEB)

    Boothyrod, A.E.; Hall, C.M.

    1988-10-01

    Two female infants with Goltz syndrome (focal dermal hypoplasia) were recently investigated for severe feeding problems and failure to thrive. Both demonstrated severe skeletal malformations and marked gastrooesophageal reflux with laxity of the hiatus. One child (case 1) exhibited nasal regurgitation during feeding. Interestingly, both children had undergone surgery; Case 1 or a right parasagittal abdominal hernia associated with focal dermal hypoplasia of the abdominal wall and Case 2 for an exomphalos also associated with dermal hypoplasia. This observation suggests more widespread mesodermal abnormality. (orig./GDG).

  3. Association between C-reactive protein and features of the metabolic syndrome

    DEFF Research Database (Denmark)

    Fröhlich, M; Imhof, A; Berg, Gabriele

    2000-01-01

    OBJECTIVE: To assess the association of circulating levels of C-reactive protein, a sensitive systemic marker of inflammation, with different components of the metabolic syndrome. RESEARCH DESIGN AND METHODS: Total cholesterol (TC), HDL cholesterol, triglycerides, uric acid, BMI , and prevalence...... C-reactive protein and TC (R = 0.19), TG (R = 0.29), BMI (R = 0.32), glucose (R = 0.11), and uric acid (R = 0.14) (all P protein and HDL cholesterol (R = 0.13, P protein...

  4. Clinical, biochemical and ultrasonographic features of infertile women with polycystic ovarian syndrome

    International Nuclear Information System (INIS)

    Haq, F.; Rizvi, J.

    2007-01-01

    To evaluate and compare the clinical, biochemical and ultrasonic features of infertile women with PCOS from the two infertility centers of Karachi, The Aga Khan University Hospital and Concept Fertility Centre. Patients attending the Infertility Clinics of Aga Khan University Hospital, Karachi and Concept Fertility Centre, Karachi, were evaluated for their clinical features. Complete biochemical evaluation was performed by day 2 FSH, LH, serum prolactin, serum testosterone and fasting serum insulin determination. These results were recorded on the data collection form. Ultrasonic evaluation was performed with transvaginal ultrasound to check the morphological appearance of ovaries. A total of 508 patients were evaluated for epidemiological features of PCOS. Frequency of PCOS in the infertility clinic was 17.6% with high rate of obesity (68.5%) and hyperinsulinemia (59%). The highest rate of abnormal clinical, biochemical features were seen above BMI of 30. High rates of obesity, hyperinsulinemia and impaired glycemic control were seen in this series. It was demonstrated that high BMI had an association and correlation with abnormal clinical and biochemical features. Obese women with PCOS need more attention for their appropriate management. (author)

  5. Relationship of renal insufficiency and clinical features or comorbidities with clinical outcome in patients hospitalised for acute heart failure syndromes.

    Science.gov (United States)

    Kajimoto, Katsuya; Sato, Naoki; Takano, Teruo

    2017-12-01

    Renal insufficiency is a well-known predictor of adverse events in patients with acute heart failure syndromes (AHFS). However, it remains unclear whether there are subgroups of AHFS patients in whom renal insufficiency is related to a higher risk of adverse events because of the heterogeneity of this patient population. Therefore, we investigated the relationship between renal insufficiency, clinical features or comorbidities, and the risk of adverse events in patients with AHFS. Of 4842 patients enrolled in the Acute Decompensated Heart Failure Syndromes (ATTEND) registry, 4628 patients (95.6%) were evaluated in the present study in order to assess the relationship of renal insufficiency and clinical features or comorbidities with all-cause mortality after admission. Renal insufficiency was defined as an estimated creatinine clearance of ⩽40 mL/min (calculated by the Cockcroft-Gault formula) at admission. The median follow-up period after admission was 524 (391-789) days. The all-cause mortality rate after admission was significantly higher in patients with renal insufficiency (36.7%) than in patients without renal insufficiency (14.4%). Stratified analysis was performed in order to explore the heterogeneity of the influence of renal insufficiency on all-cause mortality. This analysis revealed that an ischaemic aetiology and a history of diabetes, atrial fibrillation, serum sodium, and anaemia at admission had significant influences on the relationship between renal insufficiency and all-cause mortality. The present study demonstrated that the relationship between renal insufficiency and all-cause mortality of AHFS patients varies markedly with clinical features or comorbidities and the mode of presentation due to the heterogeneity of this patient population.

  6. Dentofacial development in long-term survivors of acute lymphoblastic leukemia. A comparison of three treatment modalities

    International Nuclear Information System (INIS)

    Sonis, A.L.; Tarbell, N.; Valachovic, R.W.; Gelber, R.; Schwenn, M.; Sallan, S.

    1990-01-01

    Ninety-seven children who were diagnosed with acute lymphoblastic leukemia before 10 years of age and treated with chemotherapy alone, chemotherapy plus 1800-cGy cranial irradiation (RT), or chemotherapy plus 2400-cGy RT were evaluated for effects of therapy on dentofacial development. All patients were seen at least 5 years postdiagnosis. Dental abnormalities were determined from panoramic radiographs, and craniofacial evaluations were made from lateral cephalometric radiographs. Ninety-one (94%) of all patients and 41 (100%) of patients younger than 5 years of age at diagnosis had abnormal dental development. The severity of these abnormalities was greater in children who received treatment before 5 years of age and in those who received RT. Observed dental abnormalities included tooth agenesis, arrested root development, microdontia, and enamel dysplasias. Craniofacial abnormalities occurred in 18 of 20 (90%) of those patients who received chemotherapy plus 2400-cGy RT before 5 years of age. Mean cephalometric values of this group showed significant deficient mandibular development. The results of this study suggest that the severity of dentofacial-developmental abnormalities secondary to antileukemia therapy are related to the age of the patient at the initiation of treatment and the use of cranial RT

  7. Dentofacial development in long-term survivors of acute lymphoblastic leukemia. A comparison of three treatment modalities

    Energy Technology Data Exchange (ETDEWEB)

    Sonis, A.L.; Tarbell, N.; Valachovic, R.W.; Gelber, R.; Schwenn, M.; Sallan, S. (Children' s Hospital, Boston, MA (USA))

    1990-12-15

    Ninety-seven children who were diagnosed with acute lymphoblastic leukemia before 10 years of age and treated with chemotherapy alone, chemotherapy plus 1800-cGy cranial irradiation (RT), or chemotherapy plus 2400-cGy RT were evaluated for effects of therapy on dentofacial development. All patients were seen at least 5 years postdiagnosis. Dental abnormalities were determined from panoramic radiographs, and craniofacial evaluations were made from lateral cephalometric radiographs. Ninety-one (94%) of all patients and 41 (100%) of patients younger than 5 years of age at diagnosis had abnormal dental development. The severity of these abnormalities was greater in children who received treatment before 5 years of age and in those who received RT. Observed dental abnormalities included tooth agenesis, arrested root development, microdontia, and enamel dysplasias. Craniofacial abnormalities occurred in 18 of 20 (90%) of those patients who received chemotherapy plus 2400-cGy RT before 5 years of age. Mean cephalometric values of this group showed significant deficient mandibular development. The results of this study suggest that the severity of dentofacial-developmental abnormalities secondary to antileukemia therapy are related to the age of the patient at the initiation of treatment and the use of cranial RT.

  8. ENPP1 and ESR1 genotypes influence temporomandibular disorders development and surgical-treatment response in dento-facial deformities

    Science.gov (United States)

    Nicot, Romain; Vieira, Alexandre R.; Raoul, Gwénaël; Delmotte, Constance; Duhamel, Alain; Ferri, Joël; Sciote, James J.

    2016-01-01

    Dentofacial deformities are dys-morpho-functional disorders involving the temporomandibular joints (TMJ). Many authors have report a TMJ improvement in dysfunctional subjects with malocclusion after orthodontic or combined orthodontic and surgical treatment particularly for the relief of pain. In particular, few studies have highlighted the demographic and clinical predictors of response to surgical treatment. To date, no genetic factor has yet been identified as a predictor of response to surgical treatment. The aim of this cohort study is therefore to identify single-nucleotide polymorphisms associated with postoperative temporomandibular disorders (TMD) or with TMJ symptoms after orthognathic surgery. Here, we found the AA genotype of SNP rs1643821 (ESR1 gene) as a risk factor for dysfunctional worsening after orthognathic surgery. In addition, we have identified TT genotype of SNP rs858339 (ENPP1 gene) as a protective factor against TMD in a population of patients with dentofacial deformities. Conversely, the heterozygous genotype AT was identified as a risk factor of TMD with respect to the rest of our population. All these elements are particularly important to bring new screening strategies and tailor future treatment. PMID:27519661

  9. Alien hand syndrome in AIDS: Neuropsychological features and physiopathological considerations based on a case report

    Directory of Open Access Journals (Sweden)

    Leonardo Caixeta

    Full Text Available Abstract Alien hand syndrome consists of an autonomous motor activity perceived as an involuntary yet purposeful movement, with a feeling of foreignness of the involved limb, commonly associated with a failure to recognize ownership of the limb in the absence of visual cues. A 41 year old left-handed woman, HIV positive, evolved with loss of control in the left hand. Her left hand presented extravolitional movements, as if having a will of its own, not responding to commands such as opening a door or holding an umbrella, but instead groping unneeded objects. She had talked to her hand and even fought it. In addition, other clinical presentations including recent memory loss, hemineglect and dysphoria were observed. Computed tomography revealed a hypodensity area in the right frontal-parietal region, with midline deviation. Considering clinical and epidemiological data, the diagnosis of Central Nervous System (CNS toxoplasmosis was reached. No previous reports showing association among AIDS, toxoplasmosis and alien hand syndrome were found.

  10. Behavioral and synaptic circuit features in a zebrafish model of fragile X syndrome.

    Directory of Open Access Journals (Sweden)

    Ming-Chong Ng

    Full Text Available Fragile X syndrome (FXS is the most frequent inherited form of human mental retardation. It is characterized by cognitive impairment and physical and behavioral problems and is caused by the silencing of fmr1 transcription and the absence of the fmr1 protein (FMRP. Recently, animal models of FXS have greatly facilitated the investigation of the molecular and cellular mechanisms of this loss-of-function disorder. The present study was aimed to further characterize the role of FMRP in behavior and synaptic function by using fmr1 knockout zebrafish. In adult zebrafish, we found that fmr1 knockout produces the anxiolytic-like responses of increased exploratory behavior in light/dark and open-field tests and avoidance learning impairment. Furthermore, electrophysiological recordings from telencephalic slice preparations of knockout fish displayed markedly reduced long-term potentiation and enhanced long-term depression compared to wild-type fish; however, basal glutamatergic transmission and presynaptic function at the lateral (Dl and medial (Dm division of the dorsal telencephalon synapse remained normal. Taken together, our study not only evaluates the mechanism of FRMP but also suggests that zebrafish have valuable potential as a complementary vertebrate model in studying the molecular pathogenesis of human fragile X syndrome.

  11. Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features.

    Science.gov (United States)

    Bidart, Marie; El Atifi, Michèle; Miladi, Sarra; Rendu, John; Satre, Véronique; Ray, Pierre F; Bosson, Caroline; Devillard, Françoise; Lehalle, Daphné; Malan, Valérie; Amiel, Jeanne; Mencarelli, Maria Antonietta; Baldassarri, Margherita; Renieri, Alessandra; Clayton-Smith, Jill; Vieville, Gaëlle; Thevenon, Julien; Amblard, Florence; Berger, François; Jouk, Pierre-Simon; Coutton, Charles

    2017-06-01

    To determine whether duplication of the ARID1A gene is responsible for a new recognizable syndrome. We describe four patients with a 1p36.11 microduplication involving ARID1A as identified by array-comparative genomic hybridization . We performed comparative transcriptomic analysis of patient-derived fibroblasts using RNA sequencing and evaluated the impact of ARID1A duplication on the cell cycle using fluorescence-activated cell sorting. Functional relationships between differentially expressed genes were investigated with ingenuity pathway analysis (IPA). Combining the genomic data, we defined a small (122 kb), minimally critical region that overlaps the full ARID1A gene. The four patients shared a strikingly similar phenotype that included intellectual disability and microcephaly. Transcriptomic analysis revealed the deregulated expression of several genes previously linked to microcephaly and developmental disorders as well as the involvement of signaling pathways relevant to microcephaly, among which the polo-like kinase (PLK) pathway was especially notable. Cell-cycle analysis of patient-derived fibroblasts showed a significant increase in the proportion of cells in G1 phase at the expense of G2-M cells. Our study reports a new microduplication syndrome involving the ARID1A gene. This work is the first step in clarifying the pathophysiological mechanism that links changes in the gene dosage of ARID1A with intellectual disability and microcephaly.Genet Med advance online publication 01 December 2016.

  12. Heart defects and other features of the 22q11 distal deletion syndrome

    DEFF Research Database (Denmark)

    Fagerberg, Christina R; Graakjaer, Jesper; Heinl, Ulrike D

    2013-01-01

    with 22q11 distal deletions, and discuss the possible roles of haploinsufficiency of the MAPK1 gene. We find the most frequent features in 22q11 distal deletion to be developmental delay or learning disability, short stature, microcephalus, premature birth with low birth weight, and congenital heart...... malformation ranging from minor anomalies to complex malformations. Behavioral problems are also seen in a substantial portion of patients. The following dysmorphic features are relatively common: smooth philtrum, abnormally structured ears, cleft palate/bifid uvula, micro-/retrognathia, upslanting palpebral...

  13. YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction

    DEFF Research Database (Denmark)

    Gabriele, Michele; Vulto-van Silfhout, Anneke T; Germain, Pierre-Luc

    2017-01-01

    Yin and yang 1 (YY1) is a well-known zinc-finger transcription factor with crucial roles in normal development and malignancy. YY1 acts both as a repressor and as an activator of gene expression. We have identified 23 individuals with de novo mutations or deletions of YY1 and phenotypic features ...

  14. FEATURES OF SURGICAL TACTICS FOR PATIENTS WITH COXO-VERTEBRAL SYNDROME

    Directory of Open Access Journals (Sweden)

    A. L. Kudyashev

    2017-01-01

    Full Text Available Purpose of the study – to design the algorithm of selection for rational surgical tactics for treatment of patients with coxo-vertebral syndrome.Material and methods. 175 patients with coxo-vertebral syndrome were included into the study who underwent total hip replacement in the period from 2009 till 2016. The authors analyzed outcomes of treatment of 134 patients at midterm follow up of 9 months (range from 8 to 10 months after the surgery. Mean age of patients was 54,4±12,7 y.o. Patients were subdivided into a test group (94 patients and control group (81 patients. Standard THR approaches were used in the control group by restoring anatomical center of rotation and lower leg length. The suggested algorithm of the optimal procedure selection was applied in the test group. Clinical and functional data was evaluated by Harris Hip Score and Oswestry score. Radiographic evaluation was performed based on x-rays of vertebral-pelvic complex in standing position, by functional x-rays, CT and MRI. Evaluation of differences significance between the groups was performed by MannWhitney U-test and McNemar test.Results. Application of proposed surgical approaches allowed to increase the number of patients with good clinical and functional outcomes (test group – 82,4%, control group – 26,7% and achieve better function of hip joint and patients’ life quality in short-term postoperative period. Excellent outcomes by Harris hip score were observed in 53,2% of patients, in control group – in 9,7%. Share of the patients complaining of lumber pain, limping and need for a walking stick after THR in the test group was less than in control group. Share of patients demonstrating pain at palpation of spinous processes, with positive test of elevated extended leg and radicular syndrome was also significantly less in test group as compared to control group.Conclusion. Practical application of proposed algorithm for selection of a rational tactics of surgical

  15. Long-term assessment of facial features and functions needing more attention in treatment of Treacher Collins syndrome.

    Science.gov (United States)

    Plomp, Raul G; Versnel, Sarah L; van Lieshout, Manouk J S; Poublon, Rene M L; Mathijssen, Irene M J

    2013-08-01

    This study aimed to determine which facial features and functions need more attention during surgical treatment of Treacher Collins syndrome (TCS) in the long term. A cross-sectional cohort study was conducted to compare 23 TCS patients with 206 controls (all≥18 years) regarding satisfaction with their face. The adjusted Body Cathexis Scale was used to determine satisfaction with the appearance of the different facial features and functions. Desire for further treatment of these items was questioned. For each patient an overview was made of all facial operations performed, the affected facial features and the objective severity of the facial deformities. Patients were least satisfied with the appearance of the ears, facial profile and eyelids and with the functions hearing and nasal patency (Pfunctional deficits of the face are shown to be as important as the facial appearance. Particularly nasal patency and hearing are frequently impaired and require routine screening and treatment from intake onwards. Furthermore, correction of ear deformities and midface hypoplasia should be offered and performed more frequently. Residual deformity and dissatisfaction remains a problem, especially in reconstructed eyelids. II. Copyright © 2013 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

  16. Epidermal nevus syndrome associated with unusual neurological, ocular, and skeletal features

    Directory of Open Access Journals (Sweden)

    Reena Sharma

    2012-01-01

    Full Text Available Epidermal nevus syndrome (ENS is a rare disease, the pathogenesis of which is largely elusive. We, hereby, report an exclusive case of a 20-year-old man with verrucous ENS presented with dark colored papules and plaques along the Blaschko′s lines present over the head and neck area along with fleshy growth in both eyes since birth. Limb length discrepancy and kyphoscoliosis were remarkable. Skin biopsy was compatible with verrucous epidermal nevus while the biopsy of the ocular lesion confirmed complex choristoma. MRI brain revealed calcification in the right temporal lobe. Bilateral arachnoid cyst in the middle cranial fossa, scleral osteoma in the posterior part of the right eyeball, and deformed calvarium were evident on CECT skull and orbit. The present illustration emphasizes the importance of a punctilious work up of the case.

  17. Persistent mullerian duct syndrome with teratoma in an ectopic testis: imaging features

    Energy Technology Data Exchange (ETDEWEB)

    Narlawar, R.S.; Patankar, T. [Dept. of Radiology, Seth G. S. Medical College and K. E. M. Hospital, Parel, Mumbai (India); Shah, J.R.; Parikh, V. [Dept. of CT and Ultrasound, Research Centre, Mumbai, Maharashtra (India)

    2001-06-01

    The persistent mullerian duct syndrome represents a rare form of male pseudohermaphroditism, secondary to mullerian inhibiting factor (MIF) deficiency. We describe imaging findings in a 30-year-old male (46 XY karyotype) with bilateral cryptorchidism and mullerian duct anomalies (presence of uterus and fallopian tubes). Grade-III teratoma with yolk sac tumour was detected in one of the undescended testis, lying in the pelvic cavity. The other testis was in the inguinal canal. The rest of the wolffian duct structures (e. g. prostate, seminal vesicles) were nearly normal. Very few reports of imaging findings of this entity have been published thus far, probably because of the rarity of entity, incidental detection of most of the cases at surgery and relatively asymptomatic clinical presentation. (orig.)

  18. Cushing Syndrome: Diagnostic Workup and Imaging Features, With Clinical and Pathologic Correlation.

    Science.gov (United States)

    Wagner-Bartak, Nicolaus A; Baiomy, Ali; Habra, Mouhammed Amir; Mukhi, Shalini V; Morani, Ajaykumar C; Korivi, Brinda R; Waguespack, Steven G; Elsayes, Khaled M

    2017-07-01

    Cushing syndrome (CS) is a constellation of clinical signs and symptoms resulting from chronic exposure to excess cortisol, either exogenous or endogenous. Exogenous CS is most commonly caused by administration of glucocorticoids. Endogenous CS is subdivided into two types: adrenocorticotropic hormone (ACTH) dependent and ACTH independent. Cushing disease, which is caused by a pituitary adenoma, is the most common cause of ACTH-dependent CS for which pituitary MRI can be diagnostic, with bilateral inferior petrosal sinus sampling useful in equivocal cases. In ectopic ACTH production, which is usually caused by a tumor in the thorax (e.g., small cell lung carcinoma, bronchial and thymic carcinoids, or medullary thyroid carcinoma) or abdomen (e.g., gastroenteropancreatic neuroendocrine tumors or pheochromocytoma), CT, MRI, and nuclear medicine tests are used for localizing the source of ACTH. In ACTH-independent CS, which is caused by various adrenal abnormalities, adrenal protocol CT or MRI is usually diagnostic.

  19. Dermatoglyphic features in Prader-Willi syndrome with respect to chromosomal findings

    Science.gov (United States)

    Reed, Terry; Butler, Merlin G.

    2017-01-01

    Dermatoglyphic findings were compared in 38 Prader-Willi syndrome (PWS) patients and 270 normal controls. Twenty-one of the PWS patients had an interstitial deletion of the proximal long arm of chromosome 15 and seventeen PWS cases had normal chromosomes. Findings in PWS are not diagnostic but do show some consistent deviations that can be used in the clinical evaluation of PWS patients. These include a displacement of the axial triradius away from the normal proximal position, an excess of whorls primarily on the thumbs, radial termination of the palmar A mainline, and lack of arches on the big toe. Deletion PWS patients were much more homogeneous than non-deletion cases with respect to plantar patterns. The previously reported deficit of plantar pattern intensity was restricted only to deletion PWS and was characterized by a lack of plantar interdigital II–IV patterns with almost exclusively hallucal distal loops. PMID:6713710

  20. Kabuki make-up syndrome with genitourinary anomalies, ophthalmologic features and hyperpigmentation in an Egyptian child

    Directory of Open Access Journals (Sweden)

    Rabah M. Shawky

    2017-01-01

    Full Text Available We report a 3.5 year old male child, first in order of birth of healthy consanguineous Egyptian parents with typical characteristics of Kabuki make-up syndrome. The patient had microcephaly, high arched sparse eyebrows, hypertelorism, long palpebral fissures with eversion of the lateral third of the lower eyelids, bilateral ptosis, long eyelashes, blue sclera, depressed nasal bridge, broad nose with everted nares, and low set small deformed ears, thin lips, low post hair line, short neck, persistent fingertip pads, dysplastic nails, hypermobile joints, pigmented nevus on the back, lateral side of right foot and right leg and mild hypertrichosis over the lower back. Our patient had also a non-functioning left kidney, multiple chalazions in upper eyelids, enlargement of the glans penis, which were not reported previously, and moderate mental retardation.

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

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    Demet Arslan

    2017-06-01

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

  2. Post-concussive syndrome after mild head trauma: epidemiological features in Tunisia.

    Science.gov (United States)

    Chakroun-Walha, O; Rejeb, I; Boujelben, M; Chtara, K; Mtibaa, A; Ksibi, H; Chaari, A; Bouaziz, M; Rekik, N

    2017-12-01

    Minor head injury is one of the major diagnoses requiring management in emergency departments (ED) but its squeals are not well studied in our country. To describe the prevalence of post-concussive syndrome and its impacts on life activities, up to 6 months of follow-up, among patients having a minor head injury and discharged from ED. A prospective bi-centric study including adults having a minor head trauma and consenting to be followed up to 6 months after discharge. The Rivermead Post-Concussion Symptoms Questionnaire (RPQ) was used at baseline, after 15 days, at 1 month, at 3 months and at 6 months post-injury to assess concussive symptoms. We also used the Rivermead Head Injury Follow-up Questionnaire (RHFUQ) to describe impacts of minor head trauma on life activities. There were 130 consenting patients at baseline interview. Proportion of patients describing post-concussive symptoms at baseline was 71/130. At 6 months of follow-up, post-concussive syndrome was diagnosed among 21.4 % of participants. Sustaining symptoms at 6 months post-injury were mainly anger and irritability (12.5 %). Correlations between high RPQ sum rates since 15 days' post-injury call and the sum total rates of RHFUQ were significant. The major significant impact of minor head trauma at 6 months of follow-up was among domestic activities. The two most important findings of this study were the huge proportion of patients having minor head injury and discharged from ED without any explanation of possible symptoms after head trauma and the unknown impacts on life activities.

  3. Clinical features of women with Turner syndrome experiencing transition period in Japan.

    Science.gov (United States)

    Nishigaki, Satsuki; Hamazaki, Takashi; Tsuruhara, Akitoshi; Yoshida, Toshiko; Imamura, Takuji; Inada, Hiroshi; Fujita, Keinosuke; Shintaku, Haruo

    2017-05-30

    Turner syndrome results from the entire or partial loss of the second X chromosome, and is associated with a number of medical problems. Affected women require long-term medical follow-up. This study investigated the status of medical follow-up focusing on the transition for young adult women with Turner syndrome (TS). The clinical profiles of 63 women with TS over the age of 16 were retrospectively examined. Thirty-three women are continuously followed by pediatric endocrinologists at our pediatric division. Twenty women were transferred to gynecologists as primary care physicians. Eight young adult women dropped out of the regular health check-up from our pediatric division even though 7 women were undergoing estrogen replacement therapy. We further reviewed the complications and management of the 33 women who were continuously followed at our pediatric division. A high incidence of obesity and liver dysfunction were observed in this age group (23.5±8.7). Nineteen out of 33 women consulted a cardiologist in the adult care division for cardiovascular complications. In the analysis of 20 women who were transferred to gynecologists, mainly two gynecologists accepted the transfer and have become accustomed to clinical care for TS. Seven women who were followed by the gynecologist in our facility were adequately managed for lifelong complications. Since there is no clear framework for transition in Japan, coordination with other specialists, especially gynecologists, is essential for the successful management of adult women with TS. Patient education and provision of information are required for establishing self-advocacy, which will prevent drop-out.

  4. Pathophysiological, genetic and gene expression features of a novel rodent model of the cardio-metabolic syndrome.

    Directory of Open Access Journals (Sweden)

    Robert H Wallis

    2008-08-01

    Full Text Available Complex etiology and pathogenesis of pathophysiological components of the cardio-metabolic syndrome have been demonstrated in humans and animal models.We have generated extensive physiological, genetic and genome-wide gene expression profiles in a congenic strain of the spontaneously diabetic Goto-Kakizaki (GK rat containing a large region (110 cM, 170 Mb of rat chromosome 1 (RNO1, which covers diabetes and obesity quantitative trait loci (QTL, introgressed onto the genetic background of the normoglycaemic Brown Norway (BN strain. This novel disease model, which by the length of the congenic region closely mirrors the situation of a chromosome substitution strain, exhibits a wide range of abnormalities directly relevant to components of the cardio-metabolic syndrome and diabetes complications, including hyperglycaemia, hyperinsulinaemia, enhanced insulin secretion both in vivo and in vitro, insulin resistance, hypertriglyceridemia and altered pancreatic and renal histological structures. Gene transcription data in kidney, liver, skeletal muscle and white adipose tissue indicate that a disproportionately high number (43-83% of genes differentially expressed between congenic and BN rats map to the GK genomic interval targeted in the congenic strain, which represents less than 5% of the total length of the rat genome. Genotype analysis of single nucleotide polymorphisms (SNPs in strains genetically related to the GK highlights clusters of conserved and strain-specific variants in RNO1 that can assist the identification of naturally occurring variants isolated in diabetic and hypertensive strains when different phenotype selection procedures were applied.Our results emphasize the importance of rat congenic models for defining the impact of genetic variants in well-characterised QTL regions on in vivo pathophysiological features and cis-/trans- regulation of gene expression. The congenic strain reported here provides a novel and sustainable model for

  5. The first missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomaly.

    Science.gov (United States)

    Chograni, Manèl; Rejeb, Imen; Jemaa, Lamia Ben; Châabouni, Myriam; Bouhamed, Habiba Chaabouni

    2011-08-01

    Nance-Horan Syndrome (NHS) or X-linked cataract-dental syndrome is a disease of unknown gene action mechanism, characterized by congenital cataract, dental anomalies, dysmorphic features and, in some cases, mental retardation. We performed linkage analysis in a Tunisian family with NHS in which affected males and obligate carrier female share a common haplotype in the Xp22.32-p11.21 region that contains the NHS gene. Direct sequencing of NHS coding exons and flanking intronic sequences allowed us to identify the first missense mutation (P551S) and a reported SNP-polymorphism (L1319F) in exon 6, a reported UTR-SNP (c.7422 C>T) and a novel one (c.8239 T>A) in exon 8. Both variations P551S and c.8239 T>A segregate with NHS phenotype in this family. Although truncations, frame-shift and copy number variants have been reported in this gene, no missense mutations have been found to segregate previously. This is the first report of a missense NHS mutation causing NHS phenotype (including cardiac defects). We hypothesize also that the non-reported UTR-SNP of the exon 8 (3'-UTR) is specific to the Tunisian population.

  6. Drug reaction with eosinophilia and systemic symptoms: A drug-induced hypersensitivity syndrome with variable clinical features

    Directory of Open Access Journals (Sweden)

    Yi-Chun Chen

    2013-12-01

    Full Text Available Drug reaction with eosinophilia and systemic symptoms (DRESS or drug-induced hypersensitivity syndrome (DIHS involves a unique and severe adverse drug reaction. Patients present with fever, rash, lymphadenopathy, hematological abnormalities, systemic illness, and may suffer from prolonged courses. Although the precise pathogenesis of DRESS/DIHS is not fully understood, it is widely considered to be an immunological reaction to a drug or drug metabolites. In this review article, we discuss the historical aspects of nosology, variable clinical and histopathological features, advantages and disadvantages of using an international Registry of Severe Cutaneous Adverse Reactions (RegiSCAR and Japanese DIHS criteria, pathogenesis, treatment, and long-term sequelae of DRESS/DIHS. Early recognition of this syndrome, withdrawal of suspected culprit drugs, and adequate supportive care are mainstays of improving patient prognosis and reducing morbidities and mortality. Moreover, some DRESS/DIHS patients may develop long-term sequelae, especially autoimmune diseases and end organ failure. Physicians should be aware of these possibilities in patients after DRESS/DIHS and cautiously follow-up symptoms and laboratory tests for early detection of these sequelae.

  7. Heterozygous Pitx2 Null Mice Accurately Recapitulate the Ocular Features of Axenfeld-Rieger Syndrome and Congenital Glaucoma.

    Science.gov (United States)

    Chen, Lisheng; Gage, Philip J

    2016-09-01

    The purpose of this analysis was to assess the utility of Pitx2+/- mice as a model for the ocular features of Axenfeld-Rieger Syndrome and for congenital glaucoma. Eyes of Pitx2+/- and wild-type littermates were examined clinically using optical coherence tomography (OCT) and fundus photography. Intraocular pressures were measured using a TonoLab rebound tonometer. Eyes were examined histologically to assess PITX2 expression, structural integrity, and optic nerve and ganglion cell content. PITX2 is present postnatally in the corneal endothelium and stroma, iris stroma, trabecular meshwork, and Schlemm's canal. Reduced central corneal thickness, iris defects, and iridicorneal adhesions are all prevalent in Pitx2+/- eyes. Although optic nerve heads appear normal at postnatal day 7, IOP is elevated and optic nerve head cupping is fully penetrant in Pitx2+/- eyes by 3 weeks of age. Neurodegeneration is present in a significant percentage of optic nerves from Pitx2+/- mice by 3 weeks of age, and is fully penetrant by 2 months of age. Pitx2+/- eyes show significant reductions in specifically ganglion cell density in all four quadrants by 2 months of age. Pitx2+/- mice model the major ocular features of Axenfeld-Rieger Syndrome and will be an important resource for understanding the molecular mechanisms leading to anterior segment dysgenesis and a high prevalence of glaucoma in this disease. In addition, these mice may provide an efficient new model for assessing the molecular events in glaucoma more generally, and for developing and testing new treatment paradigms for this disease.

  8. Clinical and Molecular Features of Renal and Pheochromocytoma/Paraganglioma Tumor Association Syndrome (RAPTAS): Case Series and Literature Review.

    Science.gov (United States)

    Casey, Ruth T; Warren, Anne Y; Martin, Jose Ezequiel; Challis, Benjamin G; Rattenberry, Eleanor; Whitworth, James; Andrews, Katrina A; Roberts, Thomas; Clark, Graeme R; West, Hannah; Smith, Philip S; Docquier, France M; Rodger, Fay; Murray, Vicki; Simpson, Helen L; Wallis, Yvonne; Giger, Olivier; Tran, Maxine; Tomkins, Susan; Stewart, Grant D; Park, Soo-Mi; Woodward, Emma R; Maher, Eamonn R

    2017-11-01

    The co-occurrence of pheochromocytoma (PC) and renal tumors was linked to the inherited familial cancer syndrome von Hippel-Lindau (VHL) disease more than six decades ago. Subsequently, other shared genetic causes of predisposition to renal tumors and to PC, paraganglioma (PGL), or head and neck paraganglioma (HNPGL) have been described, but case series of non-VHL-related cases of renal tumor and pheochromocytoma/paraganglioma tumor association syndrome (RAPTAS) are rare. To determine the clinical and molecular features of non-VHL RAPTAS by literature review and characterization of a case series. A review of the literature was performed and a retrospective study of referrals for investigation of genetic causes of RAPTAS. Literature review revealed evidence of an association, in addition to VHL disease, between germline mutations in SDHB, SDHC, SDHD, TMEM127, and MAX genes and RAPTAS [defined here as the co-occurrence of tumors from both classes (PC/PGL/HNPGL and renal tumors) in the same individual or in first-degree relatives]. In both the literature review and our case series of 22 probands with non-VHL RAPTAS, SDHB mutations were the most frequent cause of non-VHL RAPTAS. A genetic cause was identified in 36.3% (8/22) of kindreds. Renal tumors and PC/PGL/HNPGL tumors share common molecular features and their co-occurrence in an individual or family should prompt genetic investigations. We report a case of MAX-associated renal cell carcinoma and confirm the role of TMEM127 mutations with renal cell carcinoma predisposition. Copyright © 2017 Endocrine Society

  9. Mosaicism for maternal uniparental disomy 15 in a boy with some clinical features of Prader-Willi syndrome.

    Science.gov (United States)

    Zilina, Olga; Kahre, Tiina; Talvik, Inga; Oiglane-Shlik, Eve; Tillmann, Vallo; Ounap, Katrin

    2014-01-01

    Prader-Willi syndrome (PWS) is caused by the lack of paternal expression of imprinted genes in the human chromosomal region 15q11.2-q13.2, which can be due to an interstitial deletion at 15q11.2-q13 of paternal origin (65-75%), maternal uniparental disomy (matUPD) of chromosome 15 (20-30%), or an imprinting defect (1-3%). The majority of PWS-associated matUPD15 cases represent a complete heterodisomy of chromosome 15 or a mixture of hetero- and isodisomic regions across the chromosome 15. Pure maternal isodisomy is observed in only a few matUPD15 patients. Here we report a case of an 18-year-old boy with some clinical features of Prader-Willi syndrome, such as overweight, muscular hypotonia, facial dysmorphism and psychiatric problems, but there was no reason to suspect PWS in the patient based solely on the phenotype estimation. However, chromosomal microarray analysis (CMA) revealed mosaic loss of heterozygosity of the entire chromosome 15. Methylation-specific multiplex ligation-dependant probe amplification (MS-MLPA) analysis showed hypermethylation of the SNRPN and NDN genes in the PWS/AS critical region of chromosome 15 in this patient. Taking into consideration the MS-MLPA results and the presence of PWS features in the patient, we concluded that it was matUPD15, although the patient's parents were not enrolled in the study. According to CMA and karyotyping, no trisomic or monosomic cells were present. To the best of our knowledge, only two PWS cases with mosaic maternal isodisomy 15 and without trisomic/monosomic cell lines have been reported so far. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  10. Mice Exposed to Chronic Intermittent Hypoxia Simulate Clinical Features of Deficiency of both Qi and Yin Syndrome in Traditional Chinese Medicine

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    Chengzhi Chai

    2011-01-01

    Full Text Available Deficiency of both Qi and Yin Syndrome (DQYS is one of the common syndromes in traditional Chinese medicine (TCM, mainly characterized by tiredness, emaciation, anorexia, fidget, palpitation and rapid pulse, and so forth. Currently, there is no available animal model which can reflect the clinical features of this syndrome. In the present paper, we observed the time-course changes of whole behavior, body weight, food intake, locomotive activity and electrocardiogram in mice exposed to chronic intermittent hypoxia for 6 weeks, and measured bleeding time at last according to the clinical features of DQYS and one key pathological factor. The results showed that the mice exposed to intermittent hypoxia for certain time presented lackluster hair, dull looking hair, resistance, attacking, body weight loss, food intake decline, locomotive activity decrease, heart rate quickening and T wave elevating, which were similar to the major clinical features of DQYS. Meanwhile, bleeding time shortening was also found, which was consistent with the clinical fact that DQYS often accompanied with blood stasis. The possible explanation was also outlined according to the available literature. Such findings suggested chronic intermittent hypoxia could induce similar symptoms and signs in mice accorded with the clinical features of DQYS, which provided a suitable animal model for evaluation of drugs for the treatment of this syndrome and further exploration of pathological process or correlation of the syndrome and related diseases.

  11. A 15q24 microduplication, reciprocal to the recently described 15q24 microdeletion, in a boy sharing clinical features with 15q24 microdeletion syndrome patients

    DEFF Research Database (Denmark)

    Lund, A.B. Kiholm; Hove, H.D.; Kirchhoff, M.

    2008-01-01

    A 15q24 microduplication, reciprocal to the minimal critical region for the recently described 15q24 microdeletion syndrome, was found in a 2-year-old boy by 244k Agilent oligoarray CGH analysis. The boy had global developmental delay and dysmorphic facial features, digital and genital abnormalit......A 15q24 microduplication, reciprocal to the minimal critical region for the recently described 15q24 microdeletion syndrome, was found in a 2-year-old boy by 244k Agilent oligoarray CGH analysis. The boy had global developmental delay and dysmorphic facial features, digital and genital...

  12. Fluorescence in situ hybridization (FISH screening for the 22q11.2 deletion in patients with clinical features of velocardiofacial syndrome but without cardiac anomalies

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    Paula Sandrin-Garcia

    2007-01-01

    Full Text Available The velocardiofacial syndrome (VCFS, a condition associated with 22q11.2 deletions, is characterized by a typical facies, palatal anomalies, learning disabilities, behavioral disturbances and cardiac defects. We investigated the frequency of these chromosomal deletions in 16 individuals with VCFS features who presented no cardiac anomalies, one of the main characteristics of VCFS. Fluorescent in situ hybridization (FISH with the N25 (D22S75; 22q11.2 probe revealed deletions in ten individuals (62%. Therefore, even in the absence of cardiac anomalies testing for the 22q11.2 microdeletions in individuals showing other clinical features of this syndrome is recommended.

  13. A 15q24 microduplication, reciprocal to the recently described 15q24 microdeletion, in a boy sharing clinical features with 15q24 microdeletion syndrome patients

    DEFF Research Database (Denmark)

    Lund, A.B. Kiholm; Hove, H.D.; Kirchhoff, M.

    2008-01-01

    A 15q24 microduplication, reciprocal to the minimal critical region for the recently described 15q24 microdeletion syndrome, was found in a 2-year-old boy by 244k Agilent oligoarray CGH analysis. The boy had global developmental delay and dysmorphic facial features, digital and genital...... abnormalities. The duplication was inherited from a healthy father, but was considered clinically significant, as the patient shared clinical features with 15q24 microdeletion syndrome patients. To our knowledge this is the first report of a patient with a 15q24 microduplication Udgivelsesdato: 2008/11...

  14. WIEDEMANN SYNDROME

    African Journals Online (AJOL)

    hi-tech

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

  15. [Chronic obstructive pulmonary disease concurrent with metabolic syndrome: Pathophysiological and clinical features].

    Science.gov (United States)

    Budnevsky, A V; Ovsyannikov, E S; Labzhania, N B

    2017-01-01

    Chronic obstructive pulmonary disease (COPD) still remains a serious public health problem, which is a common cause of disability and death in the able-bodied population. Furthermore, the number of patients with metabolic syndrome (MS) is steadily increasing worldwide. Recently, there is also an increase in the number of patients with COPD concurrent with MS, which is a mutually confounding risk factor for concomitant cardiovascular disease and adversely affects prognosis in these patients. Systemic subclinical inflammation is a common link between COPD and the components of MS. Systemic inflammation in patients with comorbidity is complemented by an inflammatory process in the abdominal visceral adipose tissue that serves as a source of proinflammatory adipokines (leptin, resistin, and tumor necrosis factor-α). Patients with COPD in the presence of MS components have in general higher ventilation needs, more obvious clinical manifestations of bronchopulmonary diseases, and more frequent COPD exacerbations and frequently require higher doses of inhaled glucocorticosteroids. As compared with normal-weight patients with COPD, obese patients with this condition have more limited physical activity and much more exercise intolerance. There are currently no practical recommendations for the management of patients with comorbidity; patients with COPD concurrent with MS need an individual therapeutic approach. It is important to elaborate a package of preventive measures to improve quality of life in patients, to reduce the incidence of systemic complications, and to achieve symptomatic improvements. Thus, to develop and implement practical guidelines for physicians and patients are an urgent issue.

  16. Restless nocturnal eating: a common feature of Willis-Ekbom Syndrome (RLS).

    Science.gov (United States)

    Howell, Michael J; Schenck, Carlos H

    2012-08-15

    To determine the frequency of nocturnal eating (NE) and sleep related eating disorder (SRED) in restless legs syndrome (RLS) versus psychophysiological insomnia (INS), and the relationship of these conditions with dopaminergic and sedative-hypnotic medications. Prospective case series. Sleep disorders center. Newly diagnosed RLS or INS. RLS or INS pharmacotherapy with systematic follow up interview for NE/SRED. Patients presenting with RLS (n = 88) or INS (n = 42) were queried for the presence of NE and SRED. RLS patients described nocturnal eating (61%) and SRED (36%) more frequently than INS patients (12% and 0%; both p RLS patients (64%; p = 0.003). Among patients on sedative-hypnotics, amnestic SRED and sleepwalking were more common in the setting of RLS (80%) than INS (8%; p RLS were not secondary to dopaminergic therapy, as RLS patients demonstrated a substantial drop (68% to 34%; p = 0.0026) in the frequency of NE after dopamine agents were initiated, and there were no cases of dopaminergic agents inducing novel NE or SRED. NE is common in RLS and not due to frequent nocturnal awakenings or dopaminergic agents. Amnestic SRED occurs predominantly in the setting of RLS mistreatment with sedating agents. In light of previous reports, these findings suggest that nocturnal eating is a non-motor manifestation of RLS with several clinical implications discussed here.

  17. Voice, speech, and laryngeal features of primary Sjögren's syndrome.

    Science.gov (United States)

    Heller, Amanda; Tanner, Kristine; Roy, Nelson; Nissen, Shawn L; Merrill, Ray M; Miller, Karla L; Houtz, Daniel R; Ellerston, Julia; Kendall, Katherine

    2014-11-01

    This study examined voice, speech, and laryngeal characteristics in primary Sjögren's syndrome (pSS). Eleven patients (10 female, 1 male; mean [SD] age = 57 [14] years) from The University of Utah Division of Rheumatology provided connected speech and sustained vowel samples. Analyses included the Multi-Dimensional Voice Profile, the Analysis of Dysphonia in Speech and Voice, and dysphonia severity, speech clarity, and videolaryngostroboscopy ratings. Shimmer, amplitude perturbation quotient, and average fundamental frequency differed significantly from normative values (P speech (mean [SD] = 20.26 [8.36]) and sustained vowels (mean [SD] = 16.91 [11.08]). Ratings of dysphonia severity and speech clarity using 10-cm visual analog scales suggested mild-to-moderate dysphonia in connected speech (mean [SD] = 2.11 [1.72]) and sustained vowels (mean [SD] = 3.13 [2.20]) and mildly reduced speech clarity (mean [SD] = 1.46 [1.36]). Videolaryngostroboscopic ratings indicated mild-to-moderate dryness and mild reductions in overall laryngeal function. Voice Handicap Index scores indicated mild-to-moderate voice symptoms (mean [SD] = 43 [23]). Individuals with pSS may experience dysphonia and articulatory imprecision, typically in the mild-to-moderate range. These findings have implications for diagnostic and referral practices in pSS. © The Author(s) 2014.

  18. Vestibular dysfunction is a clinical feature of the Jervell and Lange-Nielsen Syndrome.

    Science.gov (United States)

    Winbo, Annika; Rydberg, Annika

    2015-02-01

    To investigate the possible association between Jervell and Lange-Nielsen Syndrome (JLNS) genotype and vestibular dysfunction. In 15 cases with JLNS, clinical data obtained from a semi-structured interview and full medical records were reviewed and post-rotatory nystagmus testing was performed. All genotyped cases (n = 14) had double KCNQ1 mutations. Symptoms of impaired balance were reported in 14/14 deaf JLNS cases. Gross motor developmental delay (not walking without support at 18 months of age) was seen in 11/12 cases with available data (mean age for walking: 24 months). A pathologic post-rotatory test was seen in 9/9 tested subjects, and in 3 subjects clinical testing had been performed showing complete lack of vestibular function. Vestibular dysfunction was seen in deaf JLNS cases with (n = 5) and without (n = 9) cochlear implants, including subjective symptoms (5/5 vs. 9/9) and gross motor developmental delay (5/5 vs. 6/8). We identified a high frequency of symptoms and signs associated with vestibular dysfunction in deaf JLNS cases, irrespective of previous cochlear implantation. Disruption of endolymph homeostasis in the inner ear, including cochlea and vestibular system, by profound KCNQ1 function loss is the proposed mechanism.

  19. Antiphospholipid syndrome in northwest Italy (APS Piedmont Cohort): demographic features, risk factors, clinical and laboratory profile.

    Science.gov (United States)

    Bertero, M T; Bazzan, M; Carignola, R; Montaruli, B; Silvestro, E; Sciascia, S; Vaccarino, A; Baldovino, S; Roccatello, D

    2012-06-01

    We report the experience from the Antiphospholipid Antibodies (aPL) Regional Consortium in northwest Italy, meant to support clinical research and foster collaboration among health professionals regarding the diagnosis and management of antiphospholipid syndrome (APS) patients. This cohort-study (APS Piedmont Cohort) was designed to register the clinical characteristics at inception and associated immunological manifestations at diagnosis (if any) of patients who strictly fulfilled the current criteria for APS, all recruited at the Piedmont and Valle d'Aosta regions. Clinical and laboratory data from 217 APS patients (171 with vascular events, 33 with pregnancy morbidity and 13 with both), from 16 centres within the geographical area were collected. Venous thrombosis was recorded in 45.6% of patients, arterial thrombosis in 35%, small-vessel thrombosis in 1.12% and mixed arterial and venous thrombosis in the remaining 19.4% of the cases. Pregnancy morbidity included 19 patients with unexplained fetal death beyond the 10th week of pregnancy, 17 with premature birth before the 34th week and 10 with three or more unexplained spontaneous abortions before the 10th week of gestation. This consortium represents an instrument by which to audit clinical practice, to provide counselling to local centres and to sustain future basic and clinical APS research.

  20. Middle lobe syndrome: a review of clinicopathological features, diagnosis and treatment.

    Science.gov (United States)

    Gudbjartsson, Tomas; Gudmundsson, Gunnar

    2012-01-01

    Middle lobe syndrome (MLS) is a rare but important clinical entity that has been poorly defined in the literature. It is characterized by recurrent or chronic collapse of the middle lobe of the right lung but can also involve the lingula of the left lung. Pathophysiologically, there are two forms of MLS, namely obstructive and nonobstructive. Obstructive MLS is usually caused by endobronchial lesions or extrinsic compression of the middle lobe bronchus such as from hilar lymphadenopathy or tumors of neoplastic origin, resulting in postobstructive atelectasis and pneumonitis. In the nonobstructive type, no obstruction of the middle lobe bronchus is evident during bronchoscopy or with computerized tomography of the chest. The etiology of the nonobstructive form is not completely understood. Inefficient collateral ventilation, infection and inflammation in the middle lobe or lingula are thought to play a role, and bronchiectasis is the most common histological finding. Patients with proven endobronchial lesions or malignancy are usually offered surgical resection directly. This contrasts with nonobstructive MLS, where most patients respond to medical treatment consisting of bronchodilators, mucolytics and broad-spectrum antibiotics. However, some patients do not respond to conservative treatment and may suffer irreversible damage of the middle lobe or lingula, in addition to having recurrent symptoms of infection or inflammation. These selected patients can be offered surgical resection of the middle lobe or lingula, which is associated with a low mortality rate and favorable outcome. Copyright © 2012 S. Karger AG, Basel.

  1. Clinical features and differential diagnosis of acute idiopathic blind spot enlargement syndrome.

    Science.gov (United States)

    Liu, Xiaocui; Chen, Bing; Zhang, Maonian; Huang, Houbin

    2014-09-01

    To study the clinical manifestations and the diagnostic and differential diagnostic characteristics of acute idiopathic blind spot enlargement syndrome (AIBSES). Six patients diagnosed with AIBSES underwent complete eye examinations including fundus photography, fundus fluorescein angiography(FFA), indocyanine green angiography (ICGA), optical coherence tomography (OCT), electroretinogram (ERG), and visual field examinations. All patients had enlarged blind spots of variable sizes and densities. Three eyes had mild swelling of the optic disc and one eye had peripapillary scarring that corresponded to the permanent field defect. Two patients who underwent FFA had fluorescein leakage of blood vessels around the optic disc and ICGA highlighted diffuse, small hypofluorescent spots scattering throughout the posterior pole. OCT showed that the inner and outer segment (IS/OS) line were absent in five patients and the middle cone outer segment tip line was absent in the nasal macular area in one eye. AIBSES is a rare outer retinopathy. Visual field examination and OCT are the most important means of detection. ICGA and FAF can determine the range of lesions earlier, and the progress of the disease should be taken into account when making a diagnosis.

  2. Immunological Features of the Non-Structural Proteins of Porcine Reproductive and Respiratory Syndrome Virus

    Directory of Open Access Journals (Sweden)

    Edgar Rascón-Castelo

    2015-02-01

    Full Text Available Porcine reproductive and respiratory syndrome virus (PRRSV is currently one of the most important viruses affecting the swine industry worldwide. Despite the large number of papers published each year, the participation of non-structural proteins (nsps in the immune response is not completely clear. nsps have been involved in the host innate immune response, specifically, nsp1α/β, nsp2, nsp4 and nsp11 have been associated with the immunomodulation capability of the virus. To date, only participation by nsp1, nsp2, nsp4 and nsp7 in the humoral immune response has been reported, with the role of other nsps being overlooked. Furthermore, nsp1, nsp2, nsp5, nsp7 nsp9, nsp10, nsp11 have been implicated in the induction of IFN-γ and probably in the development of the cell-mediated immune response. This review discusses recent reports involving the participation of nsps in the modulation of the innate immune response and their role in the induction of both the humoral and cellular immune responses.

  3. Clinical features and pregnancy outcome in antiphospholipid syndrome patients with history of severe pregnancy complications.

    Science.gov (United States)

    Matsuki, Yuko; Atsumi, Tatsuya; Yamaguchi, Koushi; Hisano, Michi; Arata, Naoko; Oku, Kenji; Watanabe, Noriyoshi; Sago, Haruhiko; Takasaki, Yoshinari; Murashima, Atsuko

    2015-03-01

    Abstract Objective. To clarify the clinical significance of antiphospholipid antibody (aPL) profile in patients with obstetric antiphospholipid syndrome (APS). Methods. Clinical records of 13 pregnant patients (15 pregnancies) with obstetrical APS were reviewed over 10 years. Patients who met the Sapporo Criteria fully were studied, whereas those with only early pregnancy loss were excluded. In addition to classical aPL: lupus anticoagulant (LA), anticardiolipin antibody (aCL), and anti-β2-glycoprotein I (aβ2GPI); phosphatidylserine-dependent anti-prothrombin antibody (aPS/PT) and kininogen-dependent anti-phosphatidylethanolamine antibody (aPE) were also examined in each case. Results. Cases were divided into two groups according to patient response to standard treatment: good and poor outcome groups. All cases with poor outcome presented LA, with IgG aβ2GPI and IgG aPS/PT were also frequently observed. IgG aPE did not correlate with pregnancy outcome. Conclusion. aPL profile may predict pregnancy outcome in patients with this subset of obstetric APS.

  4. WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome.

    Science.gov (United States)

    DeSanto, Cori; D'Aco, Kristin; Araujo, Gabriel C; Shannon, Nora; Vernon, Hilary; Rahrig, April; Monaghan, Kristin G; Niu, Zhiyv; Vitazka, Patrik; Dodd, Jonathan; Tang, Sha; Manwaring, Linda; Martir-Negron, Arelis; Schnur, Rhonda E; Juusola, Jane; Schroeder, Audrey; Pan, Vivian; Helbig, Katherine L; Friedman, Bethany; Shinawi, Marwan

    2015-11-01

    Rare de novo mutations have been implicated as a significant cause of idiopathic intellectual disability. Large deletions encompassing 10p11.23 have been implicated in developmental delay, behavioural abnormalities and dysmorphic features, but the genotype-phenotype correlation was not delineated. Mutations in WAC have been recently reported in large screening cohorts of patients with intellectual disability or autism, but no full phenotypic characterisation was described. Clinical and molecular characterisation of six patients with loss-of-function WAC mutations identified by whole exome sequencing was performed. Clinical data were obtained by retrospective chart review, parental interviews, direct patient interaction and formal neuropsychological evaluation. Five heterozygous de novo WAC mutations were identified in six patients. Three of the mutations were nonsense, and two were frameshift; all are predicted to cause loss of function either through nonsense-mediated mRNA decay or protein truncation. Clinical findings included developmental delay (6/6), hypotonia (6/6), behavioural problems (5/6), eye abnormalities (5/6), constipation (5/6), feeding difficulties (4/6), seizures (2/6) and sleep problems (2/6). All patients exhibited common dysmorphic features, including broad/prominent forehead, synophrys and/or bushy eyebrows, depressed nasal bridge and bulbous nasal tip. Posteriorly rotated ears, hirsutism, deep-set eyes, thin upper lip, inverted nipples, hearing loss and branchial cleft anomalies were also noted. Our case series show that loss-of-function mutations in WAC cause a recognisable genetic syndrome characterised by a neurocognitive phenotype and facial dysmorphism. Our data highly suggest that WAC haploinsufficiency is responsible for most of the phenotypic features associated with deletions encompassing 10p11.23. 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.

  5. Macrocephaly, epilepsy, autism, dysmorphic features, and mental retardation in two sisters: a new autosomal recessive syndrome?

    OpenAIRE

    Orstavik, K H; Strømme, P; Ek, J; Torvik, A; Skjeldal, O H

    1997-01-01

    We report two sisters with macrocephaly, epilepsy, and severe mental retardation. The first child was a 14 year old girl born at term after a normal pregnancy, with birth weight 3600 g and occipitofrontal circumference (OFC) 36 cm (75th centile). Her head size increased markedly during the first six months of life, and was later stable at 2-3 cm above the 97.5th centile. Her development was characterised by psychomotor delay, epilepsy, and autistic features. Her face appeared mildly dysmorphi...

  6. Wolfram syndrome in the Japanese population; molecular analysis of WFS1 gene and characterization of clinical features.

    Directory of Open Access Journals (Sweden)

    Kimie Matsunaga

    Full Text Available BACKGROUND: Wolfram syndrome (WFS is a recessive neurologic and endocrinologic degenerative disorder, and is also known as DIDMOAD (Diabetes Insipidus, early-onset Diabetes Mellitus, progressive Optic Atrophy and Deafness syndrome. Most affected individuals carry recessive mutations in the Wolfram syndrome 1 gene (WFS1. However, the phenotypic pleiomorphism, rarity and molecular complexity of this disease complicate our efforts to understand WFS. To address this limitation, we aimed to describe complications and to elucidate the contributions of WFS1 mutations to clinical manifestations in Japanese patients with WFS. METHODOLOGY: The minimal ascertainment criterion for diagnosing WFS was having both early onset diabetes mellitus and bilateral optic atrophy. Genetic analysis for WFS1 was performed by direct sequencing. PRINCIPAL FINDINGS: Sixty-seven patients were identified nationally for a prevalence of one per 710,000, with 33 patients (49% having all 4 components of DIDMOAD. In 40 subjects who agreed to participate in this investigation from 30 unrelated families, the earliest manifestation was DM at a median age of 8.7 years, followed by OA at a median age of 15.8 years. However, either OA or DI was the first diagnosed feature in 6 subjects. In 10, features other than DM predated OA. Twenty-seven patients (67.5% had a broad spectrum of recessive mutations in WFS1. Two patients had mutations in only one allele. Eleven patients (27.5% had intact WFS1 alleles. Ages at onset of both DM and OA in patients with recessive WFS1 mutations were indistinguishable from those in patients without WFS1 mutations. In the patients with predicted complete loss-of-function mutations, ages at the onsets of both DM and OA were significantly earlier than those in patients with predicted partial-loss-of function mutations. CONCLUSION/SIGNIFICANCE: This study emphasizes the clinical and genetic heterogeneity in patients with WFS. Genotype-phenotype correlations may

  7. The relationships between initial clinical features and prognosis in 14 cases of diffuse alveolar hemorrhage syndrome

    International Nuclear Information System (INIS)

    Kohashi, Yasuo; Saito, Yuji; Totani, Yoshitaka; Yoneda, Yukiko; Hayashi, Masamichi; Okazawa, Mitsushi; Sakakibara; Hiroki

    2009-01-01

    Diffuse pulmonary alveolar hemorrhage (DAH) is caused by various disorders and is a medical emergency that often results in acute respiratory failure requiring prompt diagnosis and aggressive treatment. However, the relationships between the prognosis and the initial clinical feature in DAH remain unclear. We investigated the relationships between initial clinical features and prognosis in 14 cases of DAH. We examined 14 patients with DAH about laboratory data, CT scan findings, treatment and outcome. Three of 14 patients died of acute respiratory failure due to DAH. In the laboratory data on admission, the patients with over 230 IU/L of serum lactate dehydrogenase (LDH) levels had a poor outcome. In pulmonary function data on admission, the patients with under 300 of PaO 2 /FiO 2 (P/F) ratio had poor outcome. On CT scan findings on admission, the patients with consolidation shadows had a poor outcome compared to the patients with ground-glass shadows. In our data, serum LDH concentration, P/F ratio and CT scan findings on admission are important factors in the prognosis of DAH. (author)

  8. Identification of the hikikomori syndrome of social withdrawal: Psychosocial features and treatment preferences in four countries.

    Science.gov (United States)

    Teo, Alan R; Fetters, Michael D; Stufflebam, Kyle; Tateno, Masaru; Balhara, Yatan; Choi, Tae Young; Kanba, Shigenobu; Mathews, Carol A; Kato, Takahiro A

    2015-02-01

    Hikikomori, a form of social withdrawal first reported in Japan, may exist globally but cross-national studies of cases of hikikomori are lacking. To identify individuals with hikikomori in multiple countries and describe features of the condition. Participants were recruited from sites in India, Japan, Korea and the United States. Hikikomori was defined as a 6-month or longer period of spending almost all time at home and avoiding social situations and social relationships, associated with significant distress/impairment. Additional measures included the University of California, Los Angeles (UCLA) Loneliness Scale, Lubben Social Network Scale (LSNS-6), Sheehan Disability Scale (SDS) and modified Cornell Treatment Preferences Index. A total of 36 participants with hikikomori were identified, with cases detected in all four countries. These individuals had high levels of loneliness (UCLA Loneliness Scale M = 55.4, SD = 10.5), limited social networks (LSNS-6 M = 9.7, SD = 5.5) and moderate functional impairment (SDS M = 16.5, SD = 7.9). Of them 28 (78%) desired treatment for their social withdrawal, with a significantly higher preference for psychotherapy over pharmacotherapy, in-person over telepsychiatry treatment and mental health specialists over primary care providers. Across countries, participants with hikikomori had similar generally treatment preferences and psychosocial features. Hikikomori exists cross-nationally and can be assessed with a standardized assessment tool. Individuals with hikikomori have substantial psychosocial impairment and disability, and some may desire treatment. © The Author(s) 2014.

  9. Metabolic and Reproductive Features before and during Puberty in Daughters of Women with Polycystic Ovary Syndrome

    Science.gov (United States)

    Sir-Petermann, Teresa; Codner, Ethel; Pérez, Virginia; Echiburú, Bárbara; Maliqueo, Manuel; Ladrón de Guevara, Amanda; Preisler, Jessica; Crisosto, Nicolás; Sánchez, Fernando; Cassorla, Fernando; Bhasin, Shalender

    2009-01-01

    Context: A significant proportion of the first-degree female relatives of women with polycystic ovary syndrome (PCOS) may be at risk for developing PCOS. However, it is not known at which stage of pubertal development the hormonal and metabolic abnormalities ensue in PCOS. Objective: The aim of the study was to assess the reproductive and metabolic profiles of daughters of women with PCOS (PCOSd) during the peripubertal period, a stage during which the gonadal axis is activated and PCOS may become clinically manifest. Design: Ninety-nine PCOSd [30 prepubertal and 69 pubertal (Tanner II-V)] and 84 daughters of control women (Cd) (20 prepubertal and 64 pubertal) were studied. An oral glucose tolerance test, a GnRH agonist test (leuprolide acetate, 10 μg/kg sc), and a transabdominal ultrasound were performed. Gonadotropins, sex steroids, SHBG, glucose, insulin, and lipids were determined. Results: Both groups had similar chronological ages and body mass index sd scores according to Tanner stage distribution. Ovarian volume and 2-h insulin were significantly higher in PCOSd compared to Cd at all Tanner stages. In Tanner stages IV and V, basal testosterone and poststimulated LH, testosterone, and 17-hydroxyprogesterone concentrations were significantly higher in PCOSd compared to Cd. Conclusions: Hyperinsulinemia and an increased ovarian volume are present in PCOSd before the onset of puberty and persist during pubertal development. The biochemical abnormalities of PCOS appear during late puberty. Considering the early onset and the nature of the alterations, PCOSd constitute a high-risk group for metabolic and reproductive derangements. PMID:19223518

  10. Acquired immunodeficiency syndrome-related Kaposi's sarcoma: clinical features, staging, and treatment.

    Science.gov (United States)

    Dezube, B J

    2000-08-01

    The clinical course of acquired immunodeficiency syndrome (AIDS)-related Kaposi's sarcoma (KS) is highly variable, ranging from minimal stable disease to explosive growth. Although KS is primarily a cutaneous disease, extracutaneous spread is common; the oral cavity, gastrointestinal (GI) tract, lungs, and lymph nodes are often involved. The psychosocial burden associated with KS may be profound. The initial evaluation of a patient with KS consists mainly of a thorough physical examination with special attention paid to those areas typically affected by the disease, the testing of stool for occult blood, and a chest x-ray. Treatment options depend greatly on the tumor (extent of tumor and rate of growth), human immunodeficiency virus type I (HIV-I) viral load, and host factors (CD4+ T-lymphocyte count and overall medical condition). Limited cutaneous disease may be treated with topical alitretinoin gel, intralesional vinblastine, radiation therapy, laser therapy, or cryotherapy. The high benefit-to-risk ratio of liposomal anthracyclines (daunorubicin and doxorubicin) and paclitaxel have tremendously simplified the management of patients in whom systemic therapy is warranted. Additionally, epidemiologic evidence of a marked decline in new KS since the widespread use of highly active antiretroviral therapy (HAART) advocates its use. KS herpes virus/human herpes virus 8 (KSHV/HHV-8), sex hormones, and the processes of angiogenesis and cellular differentiation all serve as targets for pathogenesis-based clinical trials. Virtually all patients with KS can benefit from the many approved and investigational agents developed through years of collaborative translational and clinical research.

  11. Neuroleptic malignant syndrome: A review of the clinical/diagnostic features and report of a case without fever

    Directory of Open Access Journals (Sweden)

    Okwudili Obayi

    2017-01-01

    Full Text Available Neuroleptic malignant syndrome (NMS is an uncommon but potentially fatal idiosyncratic reaction characterized by the development of altered consciousness, hyperthermia, autonomic dysfunction, and muscular rigidity on exposure to antipsychotic (or some other psychotropic medications. It is a medical emergency that requires early prompt identification and intervention. Fever is a predominant symptom in NMS. However, there have been reports that the classical high temperature usually associated with NMS may, on rare occasions, be absent. Case presentation This review and case report focus on the clinical/diagnostic features of NMS and a report of an unusual case without the classical high grade fever in a 27- year old male patient with schizophrenia who had been on high doses of multiple typical and atypical antipsychotic drugs. Conclusion This case report serves to remind clinicians of the essential features in the diagnosis of NMS and supports earlier reports that the classical high temperature usually associated with NMS may, on rare occasions, be absent and that would not exclude the diagnosis.

  12. Classification of Parkinsonian syndromes from FDG-PET brain data using decision trees with SSM/PCA features.

    Science.gov (United States)

    Mudali, D; Teune, L K; Renken, R J; Leenders, K L; Roerdink, J B T M

    2015-01-01

    Medical imaging techniques like fluorodeoxyglucose positron emission tomography (FDG-PET) have been used to aid in the differential diagnosis of neurodegenerative brain diseases. In this study, the objective is to classify FDG-PET brain scans of subjects with Parkinsonian syndromes (Parkinson's disease, multiple system atrophy, and progressive supranuclear palsy) compared to healthy controls. The scaled subprofile model/principal component analysis (SSM/PCA) method was applied to FDG-PET brain image data to obtain covariance patterns and corresponding subject scores. The latter were used as features for supervised classification by the C4.5 decision tree method. Leave-one-out cross validation was applied to determine classifier performance. We carried out a comparison with other types of classifiers. The big advantage of decision tree classification is that the results are easy to understand by humans. A visual representation of decision trees strongly supports the interpretation process, which is very important in the context of medical diagnosis. Further improvements are suggested based on enlarging the number of the training data, enhancing the decision tree method by bagging, and adding additional features based on (f)MRI data.

  13. [Endocrine and metabolic features of female children with Prader-Willi syndrome: an analysis of 4 cases].

    Science.gov (United States)

    Wu, Mo-Ling; Li, Juan; Ding, Yu; Chen, Yao; Chang, Guo-Ying; Wang, Xiu-Min; Wang, Jian; Shen, Yi-Ping

    2017-05-01

    This article reports the clinical features and endocrine and metabolic features of 4 children with Prader-Willi syndrome (PWS). All the patients were female and aged 6-12 years at diagnosis. All of them had clinical manifestations of obesity, unusual facies, developmental retardation, and intellectual disability. Genetic detection showed that 2 patients had paternal deletion of the 15q11.2-q13 region, one patient had maternal autodiploid in the 15q11.2-q13 region, and one patient had no abnormality in the 15q11.2-q13 region. All patients had varying degrees of endocrine and metabolic disorders: 2 patients had short stature, among whom one had delayed appearance of secondary sex characteristics and the other one had type 2 diabetes; one patient had insulin resistance and no mammary gland development; one patient had a body height of P 3 -P 10 and precocious puberty. Patients with PWS have various endocrine disorders, so long-term endocrine follow-up and management is very important.

  14. Excessive fructose intake induces the features of metabolic syndrome in healthy adult men: role of uric acid in the hypertensive response.

    Science.gov (United States)

    Perez-Pozo, S E; Schold, J; Nakagawa, T; Sánchez-Lozada, L G; Johnson, R J; Lillo, J López

    2010-03-01

    Excessive fructose intake causes metabolic syndrome in animals and can be partially prevented by lowering the uric acid level. We tested the hypothesis that fructose might induce features of metabolic syndrome in adult men and whether this is protected by allopurinol. A randomized, controlled trial of 74 adult men who were administered 200 g fructose daily for 2 weeks with or without allopurinol. Primary measures included changes in ambulatory blood pressure (BP), fasting lipids, glucose and insulin, homeostatic model assessment (HOMA) index, body mass index and criteria for metabolic syndrome. The ingestion of fructose resulted in an increase in ambulatory BP (7+/-2 and 5+/-2 mm Hg for systolic (SBP) and diastolic BP (DBP), Pmetabolic syndrome increased by 25-33% depending on the criteria. Allopurinol lowered the serum uric acid level (Pmetabolic syndrome (0-2%, P=0.009). High doses of fructose raise the BP and cause the features of metabolic syndrome. Lowering the uric acid level prevents the increase in mean arterial blood pressure. Excessive intake of fructose may have a role in the current epidemics of obesity and diabetes.

  15. Clinical, molecular and histopathological features of short stature syndrome with novel CUL7 mutation in Yakuts: new population isolate in Asia.

    Science.gov (United States)

    Maksimova, N; Hara, K; Miyashia, A; Nikolaeva, I; Shiga, A; Nogovicina, A; Sukhomyasova, A; Argunov, V; Shvedova, A; Ikeuchi, T; Nishizawa, M; Kuwano, R; Onodera, O

    2007-12-01

    In total, 43 patients having short stature syndrome in 37 Yakut families with autosomal recessive prenatal and postnatal nonprogressive growth failure and facial dysmorphism but with normal intelligence have been identified. Because Yakuts are considered as a population isolate and the disease is rare in other populations, genomewide homozygosity mapping was performed using 763 microsatellite markers and candidate gene approach in the critical region to identify the causative gene for the short stature syndrome in Yakut. All families shared an identical haplotype in the same region as the identical loci responsible for 3-M and gloomy face syndromes and a novel homozygous 4582insT mutation in Cullin 7 (CUL7) was found, which resulted in a frameshift mutation and the formation of a subsequent premature stop codon at 1553 (Q1553X). Yakut patients with short stature syndrome have unique features such as a high frequency of neonatal respiratory distress and few bone abnormalities, whereas the clinical features of the other Yakut patients were similar to those of 3-M syndrome. Furthermore, abnormal vascularisation was present in the fetal placenta and an abnormal development of cartilage tissue in the bronchus of a fetus with CUL7 mutation. These findings may provide a new understanding of the clinical diversity and pathogenesis of short stature syndrome with CUL7 mutation.

  16. Pragmatic Language Features of Mothers with the "FMR1" Premutation Are Associated with the Language Outcomes of Adolescents and Young Adults with Fragile X Syndrome

    Science.gov (United States)

    Klusek, Jessica; McGrath, Sara E.; Abbeduto, Leonard; Roberts, Jane E.

    2016-01-01

    Purpose: Pragmatic language difficulties have been documented as part of the FMR1 premutation phenotype, yet the interplay between these features in mothers and the language outcomes of their children with fragile X syndrome is unknown. This study aimed to determine whether pragmatic language difficulties in mothers with the "FMR1"…

  17. A healthy Nordic diet alters the plasma lipidomic profile in adults with features of metabolic syndrome in a multicenter randomized dietary intervention

    DEFF Research Database (Denmark)

    Lankinen, Maria; Schwab, Ursula S; Kolehmainen, Marjukka

    2016-01-01

    . Methods: Men and women (n = 200) with features of metabolic syndrome [mean age: 55 y; body mass index (in kg/m2): 31.6] were randomly assigned to either a healthy Nordic (n = 104) or a control (n = 96) diet for 18 or 24 wk at 6 centers. Of the participants, 156 completed the study with plasma lipidomic...

  18. Intraindividual right-left comparison of sonographic features in polycystic ovary syndrome (PCOS) diagnosis.

    Science.gov (United States)

    Köninger, Angela; Koch, Laura; Edimiris, Philippos; Nießen, Stefanie; Kasimir-Bauer, Sabine; Kimmig, Rainer; Strowitzki, Thomas; Schmidt, Börge

    2014-10-01

    Sonographic features of polycystic ovaries consist of elevated antral follicle count or ovarian volume of at least one ovary. The aim of this prospective cross-sectional study was to estimate intraindividual differences in sonographic measurements between the both ovaries of PCOS patients and controls and clinical consequences. Both ovaries of 85 PCOS patients and 48 controls were scanned transvaginally and agreement of sonographic measurements was analyzed using the Bland-Altman method. Concordance correlation coefficients (CCC) were computed. Mean differences between right and left ovaries were 0.24 (95% confidence interval [95% CI]: -0.32-0.80) follicles for AFC and 1.14 (95% CI: 0.34-1.92)ml for OV in the whole study population, 0.14 (95% CI: -0.68-0.96) follicles for AFC and 1.48 (95% CI: 0.39-2.58)ml for OV in PCOS patients, 0.42 (95% CI: -0.19-1.02) follicles for AFC and 0.53 (95% CI: -0.50-1.56)ml for OV in controls. Rather wide limits of agreement and low CCCs (ovaries for both sonographic measurements. Width between lower and upper limits of agreement was higher for PCOS patients than for controls. 23.5% of the PCOS patients showed polycystic ovarian morphology (PCOM) only in one ovary, resulting in 9.4% potentially missed PCOS diagnosis according to the Rotterdam ESHRE/ASRM-Sponsored PCOS Consensus Workshop Group. Substantial differences in antral follicle count and ovarian volume between the right and left ovary were observed. In approximately 10% of the PCOS patients in our study only the examination of both ovaries has led to a reliable diagnosis of PCOS. In clinical practice it is recommended to scan both ovaries for a reliable diagnosis of abnormal sonographic findings in PCOM and PCOS diagnosis. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  19. Primary Sjögren's syndrome: oral aspects on pathogenesis, diagnostic criteria, clinical features and approaches for therapy

    DEFF Research Database (Denmark)

    Pedersen, A.M.; Nauntofte, Birgitte

    2001-01-01

    diagnostic criteria, labial salivary gland histopathology, primary Sjögren's syndrome, salivary gland function, therapy, xerostomia......diagnostic criteria, labial salivary gland histopathology, primary Sjögren's syndrome, salivary gland function, therapy, xerostomia...

  20. PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features.

    Science.gov (United States)

    Low, Karen J; Ansari, Morad; Abou Jamra, Rami; Clarke, Angus; El Chehadeh, Salima; FitzPatrick, David R; Greenslade, Mark; Henderson, Alex; Hurst, Jane; Keller, Kory; Kuentz, Paul; Prescott, Trine; Roessler, Franziska; Selmer, Kaja K; Schneider, Michael C; Stewart, Fiona; Tatton-Brown, Katrina; Thevenon, Julien; Vigeland, Magnus D; Vogt, Julie; Willems, Marjolaine; Zonana, Jonathan; Study, D D D; Smithson, Sarah F

    2017-05-01

    PUF60 encodes a nucleic acid-binding protein, a component of multimeric complexes regulating RNA splicing and transcription. In 2013, patients with microdeletions of chromosome 8q24.3 including PUF60 were found to have developmental delay, microcephaly, craniofacial, renal and cardiac defects. Very similar phenotypes have been described in six patients with variants in PUF60, suggesting that it underlies the syndrome. We report 12 additional patients with PUF60 variants who were ascertained using exome sequencing: six through the Deciphering Developmental Disorders Study and six through similar projects. Detailed phenotypic analysis of all patients was undertaken. All 12 patients had de novo heterozygous PUF60 variants on exome analysis, each confirmed by Sanger sequencing: four frameshift variants resulting in premature stop codons, three missense variants that clustered within the RNA recognition motif of PUF60 and five essential splice-site (ESS) variant. Analysis of cDNA from a fibroblast cell line derived from one of the patients with an ESS variants revealed aberrant splicing. The consistent feature was developmental delay and most patients had short stature. The phenotypic variability was striking; however, we observed similarities including spinal segmentation anomalies, congenital heart disease, ocular colobomata, hand anomalies and (in two patients) unilateral renal agenesis/horseshoe kidney. Characteristic facial features included micrognathia, a thin upper lip and long philtrum, narrow almond-shaped palpebral fissures, synophrys, flared eyebrows and facial hypertrichosis. Heterozygote loss-of-function variants in PUF60 cause a phenotype comprising growth/developmental delay and craniofacial, cardiac, renal, ocular and spinal anomalies, adding to disorders of human development resulting from aberrant RNA processing/spliceosomal function.

  1. Patients Carrying 9q31.1-q32 Deletion Share Common Features with Cornelia de Lange Syndrome

    Directory of Open Access Journals (Sweden)

    Ruixue Cao

    2015-01-01

    Full Text Available Background: Cornelia de Lange Syndrome (CdLS is a rare but severe clinically heterogeneous developmental disorder characterized by facial dysmorphia, growth and cognitive retardation, and abnormalities of limb development. Objectives: To determine the pathogenesis of a patient with CdLS. Methods: We studied a patient with CdLS by whole exome sequencing, karyotyping and Agilent CGH Array. The results were confirmed by quantitative real-time PCR analysis of the patient and her parents. Further comparison of our patient and cases with partially overlapping deletions retrieved from the literature and databases was undertaken. Results: Whole exome sequencing had excluded the mutation of cohesion genes such as NIPBL,SMC1A and SMC3. The result of karyotyping showed a deletion of chromosome 9q31.1-q32 and the result of Agilent CGH Array further displayed a 12.01-Mb region of deletion at chromosome bands 9q31.1-q32. Reported cases with the deletion of 9q31.1-q32 share similar features with our CdLS patient. One of the genes in the deleted region, SMC2, belongs to the Structural Maintenance of Chromosomes (SMC family and regulates gene expression and DNA repair. Conclusions: Patients carrying the deletion of 9q31.1-q32 showed similar phenotypes with CdLS.

  2. G protein-coupled receptor kinase-3-deficient mice exhibit WHIM syndrome features and attenuated inflammatory responses

    Science.gov (United States)

    Tarrant, Teresa K.; Billard, Matthew J.; Timoshchenko, Roman G.; McGinnis, Marcus W.; Serafin, D. Stephen; Foreman, Oded; Esserman, Denise A.; Chao, Nelson J.; Lento, William E.; Lee, David M.; Patel, Dhavalkumar; Siderovski, David P.

    2013-01-01

    Chemokine receptor interactions coordinate leukocyte migration in inflammation. Chemokine receptors are GPCRs that when activated, are phosphorylated by GRKs to turn off G protein-mediated signaling yet recruit additional signaling machinery. Recently, GRK3 was identified as a negative regulator of CXCL12/CXCR4 signaling that is defective in human WHIM syndrome. Here, we report that GRK3−/− mice exhibit numerous features of human WHIM, such as impaired CXCL12-mediated desensitization, enhanced CXCR4 signaling to ERK activation, altered granulocyte migration, and a mild myelokathexis. Moreover, GRK3−/− protects mice from two acute models of inflammatory arthritis (K/BxN serum transfer and CAIA). In these granulocyte-dependent disease models, protection of GRK3−/− mice is mediated by retention of cells in the marrow, fewer circulating granulocytes in the peripheral blood, and reduced granulocytes in the joints during active inflammation. In contrast to WHIM, GRK3−/− mice have minimal hypogammaglobulinemia and a peripheral leukocytosis with increased lymphocytes and absent neutropenia. Thus, we conclude that the loss of GRK3-mediated regulation of CXCL12/CXCR4 signaling contributes to some, but not all, of the complete WHIM phenotype and that GRK3 inhibition may be beneficial in the treatment of inflammatory arthritis. PMID:23935208

  3. Radiological features of Lemierre's syndrome: A case report; Manifestaciones radiologicas del sindrome de Lemierre: a proposito de un caso

    Energy Technology Data Exchange (ETDEWEB)

    Tapia-Vine, M. M.; Gonzalez-Garcia, B.; Bustos, A.; Cabello, J. [Hospital Clinico San Carlos. Madrid (Spain)

    2001-07-01

    Lemierre's syndrome is a type of sepsis caused by anaerobes that is secondary to a pharyngotonsillar infection complicated by suppurative thrombophlebitis of ipsilateral jugular vein and septic emboli. Imaging studies are valuable tools for confirming the diagnosis. Chest x-ray reveals poorly defined cavitated, peripheral, nodular lesions. computed tomography (CT) is useful in confirming the pulmonary lesions, which are suggestive of septic emboli. Doppler ultrasound of the neck plays and indispensable role in demonstrating the internal jugular vein thrombosis. We report the case of patient who presented the characteristic clinical and radiological features of Lemierre's syndrome. (Author) 17 refs.

  4. Defining constant versus variable phenotypic features of women with polycystic ovary syndrome using different ethnic groups and populations.

    Science.gov (United States)

    Welt, C K; Arason, G; Gudmundsson, J A; Adams, J; Palsdóttir, H; Gudlaugsdóttir, G; Ingadóttir, G; Crowley, W F

    2006-11-01

    The phenotype of women with polycystic ovary syndrome (PCOS) is variable, depending on the ethnic background. The phenotypes of women with PCOS in Iceland and Boston were compared. The study was observational with a parallel design. Subjects were studied in an outpatient setting. Women, aged 18-45 yr, with PCOS defined by hyperandrogenism and fewer than nine menses per year, were examined in Iceland (n = 105) and Boston (n = 262). PCOS subjects underwent a physical exam, fasting blood samples for androgens, gonadotropins, metabolic parameters, and a transvaginal ultrasound. The phenotype of women with PCOS was compared between Caucasian women in Iceland and Boston and among Caucasian, African-American, Hispanic, and Asian women in Boston. Androstenedione (4.0 +/- 1.3 vs. 3.5 +/- 1.2 ng/ml; P testosterone (54.0 +/- 25.7 vs. 66.2 +/- 35.6 ng/dl; P Caucasian Icelandic compared with Boston women with PCOS. There were no differences in fasting blood glucose, insulin, or homeostasis model assessment in body mass index-matched Caucasian subjects from Iceland or Boston or in different ethnic groups in Boston. Polycystic ovary morphology was demonstrated in 93-100% of women with PCOS in all ethnic groups. The data demonstrate differences in the reproductive features of PCOS without differences in glucose and insulin in body mass index-matched populations. These studies also suggest that measuring androstenedione is important for the documentation of hyperandrogenism in Icelandic women. Finally, polycystic ovary morphology by ultrasound is an almost universal finding in women with PCOS as defined by hyperandrogenism and irregular menses.

  5. The MR imaging features of the posterior intermalleolar ligament in patients with posterior impingement syndrome of the ankle

    International Nuclear Information System (INIS)

    Fiorella, D.

    1999-01-01

    Objective. To describe the MR imaging features of the posterior intermalleolar ligament (IML) in patients with posterior impingement syndrome (PIS) of the ankle.Design and patients. Three patients (one male and two females, 13-25 years of age) are presented. Each patient presented clinically with symptoms of PIS of the ankle. Plain film examination was negative for a structural cause of the PIS in all patients. MR images were obtained with a 1.5 T scanner using an extremity coil. Clinical data and, in one patient, findings at ankle arthroscopy, were correlated with the results of MR imaging.Results. Ankle MR images from the three patients with a clinical diagnosis of PIS are presented. Findings in all patients included: (1) absence of another structural cause of the PIS (i.e., an os trigonum, trigonal process, fracture, loose bodies, etc.), (2) identification of the IML as a structure discrete from the posterior talofibular and tibiofibular ligaments, and (3) prominence of the IML as indicated by (a) identification of the IML in three different imaging planes, and (b) a caliber of the IML comparable to that of the conventional posterior ankle ligaments visualized in the same imaging plane. Arthroscopic resection of a meniscoid IML resulted in resolution of the PIS in one of the patients presented.Conclusions. MR imaging is an effective means of investigating the IML as a potential cause of PIS. The identification of a prominent IML in the absence of another structural cause of PIS indicates that impingement of the IML is the most likely cause of PIS. (orig.)

  6. Clinical Features of Systemic Lupus Erythematosus Patients Complicated With Evans Syndrome: A Case-Control, Single Center Study.

    Science.gov (United States)

    Zhang, Lili; Wu, Xiuhua; Wang, Laifang; Li, Jing; Chen, Hua; Zhao, Yan; Zheng, Wenjie

    2016-04-01

    The aim of the study was to investigate the clinical features of systemic lupus erythematous (SLE) complicated with Evans syndrome (ES). We conducted a retrospective case-control study to compare the clinical and laboratory features of age- and gender-matched lupus patients with and without ES in 1:3 ratios. In 5724 hospitalized SLE patients, we identified 27 (0.47%, 22 women and 5 men, average age 34.2 years) SLE patients complicated with ES. Fifteen patients (55.6%) presented with hematologic abnormalities initially, including 6 (22.2%) cases of isolated ITP, 4 (14.8%) cases of isolated AIHA, and 5 (18.5%) cases of classical ES. The median intervals between hematological presentations the diagnosis of SLE was 36 months (range 0-252). ES developed after the SLE diagnosis in 4 patients (14.8%), and concomitantly with SLE diagnosis in 8 patients (29.6%). Systemic involvements are frequently observed in SLE patients with ES, including fever (55.6%), serositis (51.9%), hair loss (40.7%), lupus nephritis (37%), Raynaud phenomenon (33.3%), neuropsychiatric (33.3%) and pulmonary involvement (25.9%), and photosensitivity (25.9%). The incidence of photosensitivity, hypocomplementemia, elevated serum IgG level, and lupus nephritis in patients with ES or without ES was 25.9% vs 6.2% (P = 0.007), 88.9% vs 67.1% (P = 0.029), 48.1% vs 24.4% (P = 0.021), and 37% vs 64.2% (P = 0.013), respectively. Twenty-five (92.6%) patients achieved improvement following treatment of glucocorticoids and immunosuppressants as well as splenectomy, whereas 6 patients experienced the relapse and 1 patient died from renal failure during the follow-up. ES is a relatively rare complication of SLE. Photosensitivity, hypocomplementemia, and elevated serum IgG level were frequently observed in ES patients, but lupus nephritis was less observed. More than half of patients presented with hematological manifestation at onset, and progress to typical lupus over months to years. Therefore

  7. Deletion of 7q33-q35 in a Patient with Intellectual Disability and Dysmorphic Features: Further Characterization of 7q Interstitial Deletion Syndrome

    Directory of Open Access Journals (Sweden)

    Kristen Dilzell

    2015-01-01

    Full Text Available This case report concerns a 16-year-old girl with a 9.92 Mb, heterozygous interstitial chromosome deletion at 7q33-q35, identified using array comparative genomic hybridization. The patient has dysmorphic facial features, intellectual disability, recurrent infections, self-injurious behavior, obesity, and recent onset of hemihypertrophy. This patient has overlapping features with previously reported individuals who have similar deletions spanning the 7q32-q36 region. It has been difficult to describe an interstitial 7q deletion syndrome due to variations in the sizes and regions in the few patients reported in the literature. This case contributes to the further characterization of an interstitial distal 7q deletion syndrome.

  8. Healthy Nordic diet downregulates the expression of genes involved in inflammation in subcutaneous adipose tissue in individuals with features of the metabolic syndrome

    DEFF Research Database (Denmark)

    Kolehmainen, Marjukka; Ulven, Stine M; Paananen, Jussi

    2015-01-01

    BACKGROUND: Previously, a healthy Nordic diet (ND) has been shown to have beneficial health effects close to those of Mediterranean diets. OBJECTIVE: The objective was to explore whether the ND has an impact on gene expression in abdominal subcutaneous adipose tissue (SAT) and whether changes...... in gene expression are associated with clinical and biochemical effects. DESIGN: Obese adults with features of the metabolic syndrome underwent an 18- to 24-wk randomized intervention study comparing the ND with the control diet (CD) (the SYSDIET study, carried out within Nordic Centre of Excellence...... sites for the nuclear transcription factor κB. CONCLUSION: A healthy Nordic diet reduces inflammatory gene expression in SAT compared with a control diet independently of body weight change in individuals with features of the metabolic syndrome. The study was registered at clinicaltrials.gov as NCT...

  9. FEATURES OF CLINICAL COURSE OF GASTROESOPHAGEAL REFLUX DISEASE IN NEWLY RECRUITED WITH CONNECTIVE TISSUE UNDIFFERENTIATED DYSPLASIA SYNDROME

    Directory of Open Access Journals (Sweden)

    E.I. Kashkina

    2008-12-01

    Full Text Available The presence of connective tissue undifferentiated dysplasia syndrome against a background of psychological stress at newly recruited can promote the risk of gastroesophageal reflux disease occurrence. To the utmost, correlation between the gastroesophageal reflux disease and such manifestations of connective tissue undifferentiated dysplasia syndrome as asthenic constitution, chest deformation, Gothic palate and hypermobility of joints was found

  10. Cerebral gigantism (Sotos syndrome). Compiled data of 22 cases. Analysis of clinical features, growth and plasma somatomedin

    NARCIS (Netherlands)

    Wit, J. M.; Beemer, F. A.; Barth, P. G.; Oorthuys, J. W.; Dijkstra, P. F.; van den Brande, J. L.; Leschot, N. J.

    1985-01-01

    An in depth study on growth, bone age, cranial CT scans and plasma somatomedin activity (SM-act) was made of 22 children with Sotos syndrome. In addition to the known characteristics of the syndrome, thin and brittle nails were found in three adolescent patients. The mean body stature, expressed as

  11. Longitudinal Follow-up of Autism Spectrum Features and Sensory Behaviors in Angelman Syndrome by Deletion Class

    Science.gov (United States)

    Peters, Sarika U.; Horowitz, Lucia; Barbieri-Welge, Rene; Taylor, Julie Lounds; Hundley, Rachel J.

    2012-01-01

    Background: Angelman syndrome (AS) is a neurogenetic disorder characterized by severe intellectual disability, lack of speech, and low threshold for laughter; it is considered a "syndromic" form of autism spectrum disorder (ASD). Previous studies have indicated overlap of ASD and AS, primarily in individuals with larger (approximately 6 Mb) Class…

  12. Angiographic Features and Cardiovascular Risk Factors in Human Immunodeficiency Virus-Infected Patients With First-Time Acute Coronary Syndrome

    DEFF Research Database (Denmark)

    Knudsen, Andreas; Mathiasen, Anders B; Worck, R.H.

    2013-01-01

    A matched cohort study was conducted comparing patients with first-time acute coronary syndromes infected with human immunodeficiency virus (HIV) to non-HIV-infected patients with and without diabetes matched for smoking, gender, and type of acute coronary syndrome who underwent first-time corona...

  13. Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes syndrome (MELAS: diagnostic criteria, features of epileptic seizures, and treatment approaches by the example of a clinical case

    Directory of Open Access Journals (Sweden)

    M. A. Yamin

    2017-01-01

    Full Text Available The paper describes a patient with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes syndrome (MELAS. The features of  the course and therapy of epilepsy in MELAS are discussed. The disease  is known for its late diagnosis when years elapse from the onset of the  clinical manifestations to diagnosis. The paper presents clinical criteria  for the diagnosis of MELAS and the specific features of brain neuroimaging changes that allow identification of the disease at an early stage.

  14. Role of standardized grape polyphenol preparation as a novel treatment to improve synaptic plasticity through attenuation of features of metabolic syndrome in a mouse model.

    Science.gov (United States)

    Wang, Jun; Tang, Cheuk; Ferruzzi, Mario G; Gong, Bing; Song, Brian J; Janle, Elsa M; Chen, Tzu-Ying; Cooper, Bruce; Varghese, Merina; Cheng, Alice; Freire, Daniel; Bilski, Amanda; Roman, Jessica; Nguyen, Tuyen; Ho, Lap; Talcott, Stephen T; Simon, James E; Wu, Qingli; Pasinetti, Giulio M

    2013-12-01

    Metabolic syndrome has become an epidemic and poses tremendous burden on the health system. People with metabolic syndrome are more likely to experience cognitive decline. As obesity and sedentary lifestyles become more common, the development of early prevention strategies is critical. In this study, we explore the potential beneficial effects of a combinatory polyphenol preparation composed of grape seed extract, Concord purple grape juice extract, and resveratrol, referred to as standardized grape polyphenol preparation (SGP), on peripheral as well as brain dysfunction induced by metabolic syndrome. We found dietary fat content had minimal effect on absorption of metabolites of major polyphenols derived from SGP. Using a diet-induced animal model of metabolic syndrome (DIM), we found that brain functional connectivity and synaptic plasticity are compromised in the DIM mice. Treatment with SGP not only prevented peripheral metabolic abnormality but also improved brain synaptic plasticity. Our study demonstrated that SGP, comprised of multiple bioavailable and bioactive components targeting a wide range of metabolic syndrome related pathological features, provides greater global protection against peripheral and central nervous system dysfunctions and can be potentially developed as a novel prevention/treatment for improving brain connectivity and synaptic plasticity important for learning and memory. © 2013 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

  15. THE RISK FACTORS AND SPECIFIC FEATURES OF OSTEOPENIC SYNDROME IN PATIENTS WITH CHRONIC NON-INFECTIOUS DISEASES

    Directory of Open Access Journals (Sweden)

    N. G. Platitsyna

    2016-01-01

    Full Text Available Objective: to analyze the risk factors (RFs of osteoporosis (OP, the risk of OP-related fractures, the specific features of osteopenic syndrome in patients with chronic non-infectious diseases (CNID (coronary heart disease (CHD, hypertension, chronic obstructive pulmonary disease (COPD, and asthma. Materials and methods. The investigation enrolled 377 patients (mean age 55.3 ± 1.6 years with CNID and 221 persons (mean age, 53.2 ± 1.3 years who formed a control group. According to the nosological entity, the patients were divided as follows: Group 1 included 84 patients with CHD and hypertension; Group 2 comprised 99 hypertensive patients; Group 3 consisted of 70 patients with COPD; and Group 4 included 124 asthmatic patients. The examinees of all the groups were matched for age, gender, and body mass index. The investigation excluded patients with functional class IV chronic heart failure, continuous atrial fibrillation, heart valve disease, or myocardial noncoronarogenic diseases and those with other diseases and conditions that could have an independent impact on bone metabolism. Prior to the examination, the patients had received no specific therapy for the prevention and treatment of OP. RFs for OP were assessed using the one-minute test recommended by the International OP Foundation (2008; 10-year risk for OP-related fractures were calculated applying the FRAX computer program in accordance with the guidelines of the International OP Association and the World Health Organization (WHO, 2008. To investigate bone mineral density (BMD, bioenergy X-ray densitometry of the lumbar spine and proximal femur was carried out by means of a Lunar DPX apparatus (USA. The results were assessed using the t-test in standard deviations (SD from the peak bone mass according to the WHO guidelines. Results. The RFs of OP were more frequently recorded in the patients with CNID than in the healthy individuals. RFs, such as smoking, low physical activity, and

  16. Clinical and Immunological Features of Opsoclonus-Myoclonus Syndrome in the Era of Neuronal Cell Surface Antibodies.

    Science.gov (United States)

    Armangué, Thaís; Sabater, Lidia; Torres-Vega, Estefanía; Martínez-Hernández, Eugenia; Ariño, Helena; Petit-Pedrol, Mar; Planagumà, Jesús; Bataller, Luis; Dalmau, Josep; Graus, Francesc

    2016-04-01

    Most studies on opsoclonus-myoclonus syndrome (OMS) in adults are based on small case series before the era of neuronal cell surface antibody discovery. To report the clinical and immunological features of idiopathic OMS (I-OMS) and paraneoplastic OMS (P-OMS), the occurrence of antibodies to cell surface antigens, and the discovery of a novel cell surface epitope. Retrospective cohort study and laboratory investigations of 114 adult patients with OMS at a center for autoimmune neurological disorders done between January 2013 and September 2015. Review of clinical records. Immunohistochemistry on rat brain and cultured neurons as well as cell-based assays were used to identify known autoantibodies. Immunoprecipitation and mass spectrometry were used to characterize novel antigens. Of the 114 patients (62 [54%] female; median age, 45 years; interquartile range, 32-60 years), 45 (39%) had P-OMS and 69 (61%) had I-OMS. In patients with P-OMS, the associated tumors included lung cancer (n = 19), breast cancer (n = 10), other cancers (n = 5), and ovarian teratoma (n = 8); 3 additional patients without detectable cancer were considered to have P-OMS because they had positive results for onconeuronal antibodies. Patients with I-OMS, compared with those who had P-OMS, were younger (median age, 38 [interquartile range, 31-50] vs 54 [interquartile range, 45-65] years; P OMS with lung cancer (21% vs 5% in patients with OMS without lung cancer; P = .02); however, a similar frequency of glycine receptor antibodies was found in patients with lung cancer without OMS (13 of 65 patients [20%]). A novel cell surface epitope, human natural killer 1 (HNK-1), was the target of the antibodies in 3 patients with lung cancer and P-OMS. Patients with I-OMS responded better to treatment and had fewer relapses than those with P-OMS. Older age and encephalopathy, significantly associated with P-OMS, are clinical clues suggesting an underlying tumor. Glycine receptor antibodies occur

  17. Prune belly anomaly on prenatal ultrasound as a presenting feature of ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC).

    Science.gov (United States)

    Janssens, S; Defoort, P; Vandenbroecke, C; Scheffer, H; Mortier, G

    2008-01-01

    We report on a fetus with prune belly anomaly presenting at 16 weeks gestation. Clinical evaluation after birth revealed other malformations reminiscent of the EEC syndrome. This diagnosis was also suspected in the mother and finally confirmed in both relatives by identification of a heterozygous mutation (p.R204W) in the p63 gene. With this paper we confirm the previously reported occurrence of prune belly anomaly in the EEC syndrome, however here in this family proven by genetic analysis.

  18. Turner Syndrome

    Science.gov (United States)

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

  19. Cochlear implantation and clinical features in patients with Noonan syndrome and Noonan syndrome with multiple lentigines caused by a mutation in PTPN11.

    Science.gov (United States)

    van Nierop, Josephine W I; van Trier, Dorothée C; van der Burgt, Ineke; Draaisma, Jos M T; Mylanus, Emmanuel A M; Snik, Ad F; Admiraal, Ronald J C; Kunst, Henricus P M

    2017-06-01

    Existing literature only reports a few patients with Noonan syndrome (NS) and Noonan syndrome with multiple lentigines (NSML) who underwent cochlear implantation (CI). The present study describes four NS patients and one NSML patient with a PTPN11 mutation. They all had severe to profound hearing loss, and they received a CI. The age at which the CI surgery occurred ranged from 1 to 13 years old, and the audiological results in all five patients improved after the CI. Otological and audiological examinations in NS and NSML are important, and for those with severe hearing loss, the CI surgery improved the audiological outcome regardless of age. Published by Elsevier B.V.

  20. Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features

    Directory of Open Access Journals (Sweden)

    Hopfner Franziska

    2011-10-01

    Full Text Available Abstract Background Action myoclonus-renal failure syndrome is a hereditary form of progressive myoclonus epilepsy associated with renal failure. It is considered to be an autosomal-recessive disease related to loss-of-function mutations in SCARB2. We studied a German AMRF family, additionally showing signs of demyelinating polyneuropathy and dilated cardiomyopathy. To test the hypothesis whether isolated appearance of individual AMRF syndrome features could be related to heterozygote SCARB2 mutations, we screened for SCARB2 mutations in unrelated patients showing isolated AMRF features. Methods In the AMRF family all exons of SCARB2 were analyzed by Sanger sequencing. The mutation screening of unrelated patients with isolated AMRF features affected by either epilepsy (n = 103, progressive myoclonus epilepsy or generalized epilepsy, demyelinating polyneuropathy (n = 103, renal failure (n = 192 or dilated cardiomyopathy (n = 85 was performed as high resolution melting curve analysis of the SCARB2 exons. Results A novel homozygous 1 bp deletion (c.111delC in SCARB2 was found by sequencing three affected homozygous siblings of the affected family. A heterozygous sister showed generalized seizures and reduction of nerve conduction velocity in her legs. No mutations were found in the epilepsy, renal failure or dilated cardiomyopathy samples. In the polyneuropathy sample two individuals with demyelinating disease were found to be carriers of a SCARB2 frameshift mutation (c.666delCCTTA. Conclusions Our findings indicate that demyelinating polyneuropathy and dilated cardiomyopathy are part of the action myoclonus-renal failure syndrome. Moreover, they raise the possibility that in rare cases heterozygous SCARB2 mutations may be associated with PNP features.

  1. A group of patients with Marfan's syndrome, who have finger and toe contractures, displays tendons' alterations upon an ultrasound examination: are these features common among classical Marfan patients?

    Science.gov (United States)

    Melchiorre, Daniela; Pratelli, Elisa; Torricelli, Elena; Sofi, Francesco; Abbate, Rosanna; Matucci-Cerinic, Marco; Gensini, GianFranco; Pepe, Guglielmina

    2016-08-01

    The involvement of the musculoskeletal system with other mild pleiotropic manifestations represents a clinical criterion, called "systemic features," to d iagnose Marfan's syndrome. We aimed to investigate the features of the hands and feet redressable contractures present in a group of Marfan patients. In 13 patients with previously diagnosed Marfan's syndrome, an accurate clinical examination was performed. In particular the characterization of the musculoskeletal system by visual analogic scale to measure muscle pain (VAS) and muscle strength (MRC system) was carried out; the Beighton scale score was used to evaluate the articular hypermobility. Ultrasound examination (US) was performed to detect deep-superficial flexor tendons and extensor tendons of both hands, and the short and long flexor and extensor tendons of the fingers and toes in static and dynamic positions. The ImageJ program was adopted to measure a profile of tendon echo-intensity. A reduction of the thickness of all tendons was detected by US in our patients; the VAS and Beighton scale scores were in normal ranges. The profile of tendon echo-intensity showed different textural details in all Marfan patients. This study provides evidence for other contractures' localization, and for altered findings of the tendons in patients with Marfan syndrome and finger/toe contractures. These changes may be associated with structural modifications in connective tissue.

  2. A unique case of Turner syndrome accompanying prolactinoma and unexpected elongated styloid process: Clinical and cone-beam computed tomographic features

    Energy Technology Data Exchange (ETDEWEB)

    Evlice, Burcu; Tatli, Ufuk; Yazicioglu, Iffet; Oztunc, Haluk [Faculty of Dentistry, Cukurova University, Adana (Turkey); Evlice, Ahmet [Faculty of Medicine, Cukurova University, Adana (Turkey)

    2013-06-15

    Turner syndrome (TS) is one of the most common chromosomal abnormalities, with an estimated frequency among female live births of 1/2,000-3,000. The syndrome is characterized by the partial or complete absence of one X chromosome (45,X karyotype). We reported a unique case of a 40-year-old woman with TS accompanying unexpected elongated styloid process specific to Eagle syndrome (ES) and followed up-prolactinoma. The present article is the first report to define the cone-beam computed tomographic (CBCT) features of TS accompanying ES. Patients with TS carry various risks that make treatment more complicated; thus advanced imaging techniques for proper treatment and follow-up are extremely important. In the light of CBCT examination, craniofacial abnormalities specific to TS and accompanying syndromes such as the crowding of teeth especially in the maxillary anterior region caused by maxillary narrowness, micrognatic maxilla and mandible, relative mandibular retrusion, malocclusion, open-bite, and an elongated styloid process (length of 32.7 mm) on the right side were illustrated in detail.

  3. Effects of a diet rich in arabinoxylan and resistant starch compared with a diet rich in refined carbohydrates on postprandial metabolism and features of the metabolic syndrome

    DEFF Research Database (Denmark)

    Schioldan, Anne Grethe; Gregersen, Søren; Hald, Stine

    2017-01-01

    Purpose: Low intake of dietary fibre is associated with the development of type 2 diabetes. Dyslipidaemia plays a key role in the pathogenesis of type 2 diabetes. Knowledge of the impact of dietary fibres on postprandial lipaemia is, however, sparse. This study aimed in subjects with metabolic...... syndrome to assess the impact on postprandial lipaemia and features of the metabolic syndrome of a healthy carbohydrate diet (HCD) rich in cereal fibre, arabinoxylan and resistant starch compared to a refined-carbohydrate western-style diet (WSD). Methods: Nineteen subjects completed the randomised...... lipid content were measured. Results: We found no diet effects on postprandial lipaemia. However, there was a significant diet × statin interaction on total cholesterol (P = 0.02) and LDL cholesterol (P = 0.002). HCD decreased total cholesterol (−0.72 mmol/l, 95% CI (−1.29; −0.14) P = 0.03) and LDL...

  4. Restoration of Mecp2 expression in GABAergic neurons is sufficient to rescue multiple disease features in a mouse model of Rett syndrome.

    Science.gov (United States)

    Ure, Kerstin; Lu, Hui; Wang, Wei; Ito-Ishida, Aya; Wu, Zhenyu; He, Ling-Jie; Sztainberg, Yehezkel; Chen, Wu; Tang, Jianrong; Zoghbi, Huda Y

    2016-06-21

    The postnatal neurodevelopmental disorder Rett syndrome, caused by mutations in MECP2, produces a diverse array of symptoms, including loss of language, motor, and social skills and the development of hand stereotypies, anxiety, tremor, ataxia, respiratory dysrhythmias, and seizures. Surprisingly, despite the diversity of these features, we have found that deleting Mecp2 only from GABAergic inhibitory neurons in mice replicates most of this phenotype. Here we show that genetically restoring Mecp2 expression only in GABAergic neurons of male Mecp2 null mice enhanced inhibitory signaling, extended lifespan, and rescued ataxia, apraxia, and social abnormalities but did not rescue tremor or anxiety. Female Mecp2(+/-) mice showed a less dramatic but still substantial rescue. These findings highlight the critical regulatory role of GABAergic neurons in certain behaviors and suggest that modulating the excitatory/inhibitory balance through GABAergic neurons could prove a viable therapeutic option in Rett syndrome.

  5. Dietary nitrite reverses features of postmenopausal metabolic syndrome induced by high-fat diet and ovariectomy in mice.

    Science.gov (United States)

    Ohtake, Kazuo; Ehara, Nobuyuki; Chiba, Hiroshige; Nakano, Genya; Sonoda, Kunihiro; Ito, Junta; Uchida, Hiroyuki; Kobayashi, Jun

    2017-04-01

    Menopausal women are at greater risk of developing metabolic syndrome with reduced endothelial nitric oxide synthase (eNOS) activity. Hormone replacement therapy increases eNOS activity and normalizes some characteristics of metabolic syndrome. We hypothesized that nitric oxide (NO) supplementation should have a therapeutic effect on this syndrome. We examined the effect of dietary nitrite in a mouse model with postmenopausal metabolic syndrome induced by ovariectomy (OVX) and a high fat diet (HF). C57BL/6 female mice were divided into five groups, sham+normal fat diet (NF), sham+ HF, OVX+HF with or without sodium nitrite (50 mg and 150 mg/l) in the drinking water. Daily food intake and weekly body weight were monitored for 18 wk. OVX and HF significantly reduced plasma levels of nitrate/nitrite (NOx), and mice developed obesity with visceral hypertrophic adipocytes and increased transcriptional levels of monocyte chemoattractant protein-1, TNF-α, and IL-6 in visceral fat tissues. The proinflammatory state in the adipocytes provoked severe hepatosteatosis and insulin resistance in OVX+HF group compared with sham+NF group. However, dietary nitrite significantly suppressed adipocyte hypertrophy and transcriptions of proinflammatory cytokines in visceral fat in a dose-dependent manner. The improvement of visceral inflammatory state consequently reversed the hepatosteatosis and insulin resistance observed in OVX+HF mice. These results suggest that an endogenous NO defect might underlie postmenopausal metabolic syndrome and that dietary nitrite provides an alternative source of NO, subsequently compensating for metabolic impairments of this syndrome. Copyright © 2017 the American Physiological Society.

  6. Angiographic Features and Cardiovascular Risk Factors in Human Immunodeficiency Virus-Infected Patients With First-Time Acute Coronary Syndrome

    DEFF Research Database (Denmark)

    Knudsen, Andreas; Mathiasen, Anders B; Worck, R.H.

    2013-01-01

    A matched cohort study was conducted comparing patients with first-time acute coronary syndromes infected with human immunodeficiency virus (HIV) to non-HIV-infected patients with and without diabetes matched for smoking, gender, and type of acute coronary syndrome who underwent first-time coronary...... angiography. A total of 48 HIV-infected patients were identified from a national database. Coronary angiography showed that the HIV-infected patients had significantly fewer lesions with classification B2/C than the 2 control groups (p...

  7. Prune belly anomaly on prenatal ultrasound as a presenting feature of ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC).

    NARCIS (Netherlands)

    Janssens, S.; Defoort, P.; Vandenbroecke, C.; Scheffer, H.; Mortier, G.

    2008-01-01

    We report on a fetus with prune belly anomaly presenting at 16 weeks gestation. Clinical evaluation after birth revealed other malformations reminiscent of the EEC syndrome. This diagnosis was also suspected in the mother and finally confirmed in both relatives by identification of a heterozygous

  8. Meckel-Gruber Syndrome : a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe

    NARCIS (Netherlands)

    Barisic, Ingeborg; Boban, Ljubica; Loane, Maria; Garne, Ester; Wellesley, Diana; Calzolari, Elisa; Dolk, Helen; Addor, Marie-Claude; Bergman, Jorieke E. H.; Braz, Paula; Draper, Elizabeth S.; Haeusler, Martin; Khoshnood, Babak; Klungsoyr, Kari; Pierini, Anna; Queisser-Luft, Annette; Rankin, Judith; Rissmann, Anke; Verellen-Dumoulin, Christine

    Meckel-Gruber Syndrome is a rare autosomal recessive lethal ciliopathy characterized by the triad of cystic renal dysplasia, occipital encephalocele and postaxial polydactyly. We present the largest population-based epidemiological study to date using data provided by the European Surveillance of

  9. Syndromes of Indirect Communication : A Functional Analysis of the Static Long-take Technique in Apichatpong Weerasethakul's Feature Films

    NARCIS (Netherlands)

    Purnama, Ari

    2015-01-01

    This article discusses the functional potentialities of the static long-take application, as an alternative filming method to the coverage approach, in the film-making style of Apichatpong Weerasethakul. By employing stylistic analysis on Sang Sattawat/Syndromes and a Century (2006) and Sud

  10. Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS): a review of the clinical features and video-oculographic diagnosis.

    Science.gov (United States)

    Szmulewicz, David J; Waterston, John A; MacDougall, Hamish G; Mossman, Stuart; Chancellor, Andrew M; McLean, Catriona A; Merchant, Saumil; Patrikios, Peter; Halmagyi, G Michael; Storey, Elsdon

    2011-09-01

    The association of bilateral vestibulopathy with cerebellar ataxia was first reported in 1991 and delineated as a distinct syndrome with a characteristic and measurable clinical sign--an absent visually enhanced vestibulo-ocular reflex--in 2004. We reviewed 27 patients with this syndrome and show that a non-length-dependent sensory deficit with absent sensory nerve action potentials is an integral component of this syndrome, which we now call "cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome" (CANVAS). All patients had brain MRI and 22/27 had evidence of cerebellar atrophy involving anterior and dorsal vermis, as well as the hemispheric crus I. Brain and temporal bone pathology in one patient showed marked loss of Purkinje cells and of vestibular, trigeminal, and facial ganglion cells, but not of spiral ganglion cells. There are two sets of sibling pairs, suggesting CANVAS is a late-onset recessive disorder. The characteristic clinical sign-the visual vestibulo-ocular reflex deficit-can be demonstrated and measured clinically using video-oculography. © 2011 New York Academy of Sciences.

  11. Features of polycystic ovary syndrome (PCOS) in women with functional hypothalamic amenorrhea (FHA) may be reversible with recovery of menstrual function.

    Science.gov (United States)

    Carmina, Enrico; Fruzzetti, Franca; Lobo, Roger A

    2018-04-01

    Since features of polycystic ovary syndrome (PCOS) have been found to be prevalent in women with functional hypothalamic amenorrhea (FHA), we wished to determine what happens to these features after recovery of menstrual function in FHA Design: Prospective cohort study. Twenty-eight women with FHA and 30 age-matched ovulatory controls were studied. Twenty-eight women with FHA and 30 age-matched ovulatory controls were studied. We measured serum estradiol, LH, FSH, testosterone, DHEAS, anti-Mullerian hormone (AMH), body mass index, and ovarian morphology on transvaginal ultrasound. At baseline, 12 of the 28 women (43%) had increased AMH (>4.7 ng/mL), and higher testosterone and larger ovaries compared to the other 16 women with normal AMH. One year after recovery of menstrual function, in the 12 women with increased AMH, serum AMH, testosterone and ovarian size decreased, while LH and estradiol increased. At one year, only one of the 12 women in the high AMH group developed clinical features of PCOS. In the majority of women with FHA who have PCOS-like features, these features may be due to the hypothalamic state and appear to be reversible. Few women may develop clinical PCOS after recovery.

  12. Comparison of clinical features between suspected familial colorectal cancer type X and Lynch syndrome in Japanese patients with colorectal cancer: a cross-sectional study conducted by the Japanese Society for Cancer of the Colon and Rectum.

    Science.gov (United States)

    Yamaguchi, Tatsuro; Furukawa, Yoichi; Nakamura, Yusuke; Matsubara, Nagahide; Ishikawa, Hideki; Arai, Masami; Tomita, Naohiro; Tamura, Kazuo; Sugano, Kokichi; Ishioka, Chikashi; Yoshida, Teruhiko; Moriya, Yoshihiro; Ishida, Hideyuki; Watanabe, Toshiaki; Sugihara, Kenichi

    2015-02-01

    The characteristics of familial colorectal cancer type X are poorly defined. Here we aimed to clarify the differences in clinical features between suspected familial colorectal cancer type X and Lynch syndrome in Japanese patients. We performed germline mutation analyses of mismatch repair genes in 125 patients. Patients who met the Amsterdam Criteria I but lacked mismatch repair gene mutations were diagnosed with suspected familial colorectal cancer type X. We identified 69 patients with Lynch syndrome and 25 with suspected familial colorectal cancer type X. The frequencies of gastric and extracolonic Lynch syndrome-associated cancers were lower with suspected familial colorectal cancer type X than with Lynch syndrome. The number of organs with Lynch syndrome-associated cancer was significantly lower with suspected familial colorectal cancer type X than with Lynch syndrome. The cumulative incidence of extracolonic Lynch syndrome-associated cancer was significantly lower with suspected familial colorectal cancer type X than with Lynch syndrome. We estimated that the median cancer risk in 60-year-old patients with Lynch syndrome was 89, 36 and 24% for colorectal, endometrial and gastric cancers, respectively. Analyses of family members, including probands, revealed that the median age at diagnosis of extracolonic Lynch syndrome-associated cancer was significantly older with suspected familial colorectal cancer type X than with Lynch syndrome. The frequency of extracolonic Lynch syndrome-associated cancer was significantly lower with suspected familial colorectal cancer type X than with Lynch syndrome. A significant difference in extracolonic Lynch syndrome-associated cancer was evident between suspected familial colorectal cancer type X and Lynch syndrome. © The Author 2014. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  13. Imaging features of tuberous sclerosis complex with autosomal-dominant polycystic kidney disease: a contiguous gene syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Back, Susan J. [The Children' s Hospital of Philadelphia, Department of Radiology, Philadelphia, PA (United States); Andronikou, Savvas [University of the Witwatersrand, Radiology Department, Faculty of Health Sciences, Johannesburg (South Africa); Kilborn, Tracy [University of Cape Town, Red Cross War Memorial Children' s Hospital, Cape Town (South Africa); Kaplan, Bernard S. [The Children' s Hospital of Philadelphia, Division of Nephrology, Philadelphia, PA (United States); University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA (United States); Darge, Kassa [The Children' s Hospital of Philadelphia, Department of Radiology, Philadelphia, PA (United States); University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA (United States)

    2015-03-01

    Genes for tuberous sclerosis complex (TSC) type 2 and autosomal-dominant polycystic kidney disease (ADPKD) type 1 are both encoded over a short segment of chromosome 16. When deletions involve both genes, an entity known as the TSC2/ADPKD1 contiguous gene syndrome, variable phenotypes of TSC and ADPKD are exhibited. This syndrome has not been reviewed in the radiology literature. Unlike renal cysts in TSC, cystic disease in TSC2/ADPKD1 contiguous gene syndrome results in hypertension and renal failure. A radiologist might demonstrate polycystic kidney disease before the patient develops other stigmata of TSC. Conversely, in patients with known TSC, enlarged and polycystic kidneys should signal the possibility of the TSC2/ADPKD1 contiguous gene syndrome and not simply TSC. Distinguishing these diagnoses has implications in prognosis, treatment and genetic counseling. To describe the clinical and imaging findings of tuberous sclerosis complex and polycystic kidney disease in seven pediatric patients. We retrospectively reviewed renal and brain imaging of children and young adults with genetically proven or high clinical suspicion for TSC2/ADPKD1 contiguous gene syndrome. We included seven pediatric patients from two referral institutions. Ages ranged from birth to 21 years over the course of imaging. The mean follow-up period was 9 years 8 months (4 years 6 months to 20 years 6 months). No child progressed to end-stage renal disease during this period. Three patients were initially imaged for stigmata of TSC, three for abdominal distension and one for elevated serum creatinine concentration. All patients developed enlarged, polycystic kidneys. The latest available imaging studies demonstrated that in 12 of the 14 kidneys 50% or more of the parenchyma was ultimately replaced by >15 cysts, resulting in significant cortical thinning. The largest cysts in each kidney ranged from 2.4 cm to 9.3 cm. Echogenic lesions were present in 13 of the 14 kidneys, in keeping with

  14. Imaging features of tuberous sclerosis complex with autosomal-dominant polycystic kidney disease: a contiguous gene syndrome

    International Nuclear Information System (INIS)

    Back, Susan J.; Andronikou, Savvas; Kilborn, Tracy; Kaplan, Bernard S.; Darge, Kassa

    2015-01-01

    Genes for tuberous sclerosis complex (TSC) type 2 and autosomal-dominant polycystic kidney disease (ADPKD) type 1 are both encoded over a short segment of chromosome 16. When deletions involve both genes, an entity known as the TSC2/ADPKD1 contiguous gene syndrome, variable phenotypes of TSC and ADPKD are exhibited. This syndrome has not been reviewed in the radiology literature. Unlike renal cysts in TSC, cystic disease in TSC2/ADPKD1 contiguous gene syndrome results in hypertension and renal failure. A radiologist might demonstrate polycystic kidney disease before the patient develops other stigmata of TSC. Conversely, in patients with known TSC, enlarged and polycystic kidneys should signal the possibility of the TSC2/ADPKD1 contiguous gene syndrome and not simply TSC. Distinguishing these diagnoses has implications in prognosis, treatment and genetic counseling. To describe the clinical and imaging findings of tuberous sclerosis complex and polycystic kidney disease in seven pediatric patients. We retrospectively reviewed renal and brain imaging of children and young adults with genetically proven or high clinical suspicion for TSC2/ADPKD1 contiguous gene syndrome. We included seven pediatric patients from two referral institutions. Ages ranged from birth to 21 years over the course of imaging. The mean follow-up period was 9 years 8 months (4 years 6 months to 20 years 6 months). No child progressed to end-stage renal disease during this period. Three patients were initially imaged for stigmata of TSC, three for abdominal distension and one for elevated serum creatinine concentration. All patients developed enlarged, polycystic kidneys. The latest available imaging studies demonstrated that in 12 of the 14 kidneys 50% or more of the parenchyma was ultimately replaced by >15 cysts, resulting in significant cortical thinning. The largest cysts in each kidney ranged from 2.4 cm to 9.3 cm. Echogenic lesions were present in 13 of the 14 kidneys, in keeping with

  15. A hypoplastic atlas and long odontoid process in a girl manifesting phenotypic features resembling spondyloepimetaphyseal dysplasia joint laxity syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Al Kaissi, Ali [Hanusch Hospital, Ludwig Boltzmann Institute of Osteology, Vienna (Austria); Hanusch Hospital, AUVA Trauma Centre Meidling, 4th Medical Department, Vienna (Austria); Children' s Hospital, Orthopaedic Paediatric Surgery, Tunis Jabari (Tunisia); Orthopaedic Hospital of Speising, Paediatric Department, Vienna (Austria); Ben Chehida, Farid [Ibn Zohr Institute of Radiology, Tunis (Tunisia); Ben Ghachem, Maher [Children' s Hospital, Orthopaedic Paediatric Surgery, Tunis Jabari (Tunisia); Klaushofer, Klaus [Hanusch Hospital, Ludwig Boltzmann Institute of Osteology, Vienna (Austria); Hanusch Hospital, AUVA Trauma Centre Meidling, 4th Medical Department, Vienna (Austria); Grill, Franz [Orthopaedic Hospital of Speising, Paediatric Department, Vienna (Austria)

    2008-05-15

    Phenotypic features consistent but not completely diagnostic for spondyloepimetaphyseal dysplasia joint laxity (SEMDJL) were encountered in a 7-year-old-girl. Additional tomographic features of a hypoplastic atlas (assimilation of the posterior arch of the atlas) and unduly long odontoid process were seen. We report what might be a novel type of SEMDJL. (orig.)

  16. Microdeletion and microduplication 22q11.2 screening in 295 patients with clinical features of DiGeorge/Velocardiofacial syndrome.

    Science.gov (United States)

    Brunet, Anna; Gabau, Elisabeth; Perich, Rosa Maria; Valdesoiro, Laura; Brun, Carme; Caballín, Maria Rosa; Guitart, Miriam

    2006-11-15

    The 22q11.2 region is susceptible to chromosomal rearrangements, leading to various types of congenital malformation and mental retardation. The most common anomaly is 22q11.2 microdeletion, associated with DiGeorge/Velocardiofacial syndrome (DG/VCFS). Recently the microduplication 22q11.2 syndrome has been identified. Some clinical features in patients with this new chromosomal disorder present a substantial overlap with DG/VCFS. The aim of this hospital-based study was to evaluate the incidence of deletions and duplications on 22q11.2 in patients with DG/VCFS features. We investigated a group of 295 patients with widely variable manifestations associated with DG/VCFS. Along with the clinical diagnoses different anomalies were noted such as conotruncal cardiac anomaly, velopharyngeal insufficiency, characteristic facial dysmorphic features, language impairment, developmental delay/learning difficulties, and immunologic anomalies or thymic hypoplasia. Laboratory studies included conventional cytogenetic and FISH testing. Metaphase and interphase cells were analyzed for the presence of 22q11.2 microdeletion or microduplication. There were 12 patients who carried 22q11.2 microdeletion and no microduplication in the region was identified. Other chromosomal anomalies were reported in five patients with an overlapped DG/VCFS phenotype. All patients with 22q11.2 microdeletion showed a characteristic phenotype of DG/VCFS. We did not identify 22q11.2 microduplication, suggesting that this is a rare event in patients with DG/VCFS features. (c) 2006 Wiley-Liss, Inc.

  17. Pragmatic Language Features of Mothers With the FMR1 Premutation Are Associated With the Language Outcomes of Adolescents and Young Adults With Fragile X Syndrome

    Science.gov (United States)

    McGrath, Sara E.; Abbeduto, Leonard; Roberts, Jane E.

    2016-01-01

    Purpose Pragmatic language difficulties have been documented as part of the FMR1 premutation phenotype, yet the interplay between these features in mothers and the language outcomes of their children with fragile X syndrome is unknown. This study aimed to determine whether pragmatic language difficulties in mothers with the FMR1 premutation are related to the language development of their children. Method Twenty-seven mothers with the FMR1 premutation and their adolescent/young adult sons with fragile X syndrome participated. Maternal pragmatic language violations were rated from conversational samples using the Pragmatic Rating Scale (Landa et al., 1992). Children completed standardized assessments of vocabulary, syntax, and reading. Results Maternal pragmatic language difficulties were significantly associated with poorer child receptive vocabulary and expressive syntax skills, with medium effect sizes. Conclusions This work contributes to knowledge of the FMR1 premutation phenotype and its consequences at the family level, with the goal of identifying modifiable aspects of the child's language-learning environment that may promote the selection of treatments targeting the specific needs of families affected by fragile X. Findings contribute to our understanding of the multifaceted environment in which children with fragile X syndrome learn language and highlight the importance of family-centered intervention practices for this group. PMID:26895548

  18. Pragmatic Language Features of Mothers With the FMR1 Premutation Are Associated With the Language Outcomes of Adolescents and Young Adults With Fragile X Syndrome.

    Science.gov (United States)

    Klusek, Jessica; McGrath, Sara E; Abbeduto, Leonard; Roberts, Jane E

    2016-02-01

    Pragmatic language difficulties have been documented as part of the FMR1 premutation phenotype, yet the interplay between these features in mothers and the language outcomes of their children with fragile X syndrome is unknown. This study aimed to determine whether pragmatic language difficulties in mothers with the FMR1 premutation are related to the language development of their children. Twenty-seven mothers with the FMR1 premutation and their adolescent/young adult sons with fragile X syndrome participated. Maternal pragmatic language violations were rated from conversational samples using the Pragmatic Rating Scale (Landa et al., 1992). Children completed standardized assessments of vocabulary, syntax, and reading. Maternal pragmatic language difficulties were significantly associated with poorer child receptive vocabulary and expressive syntax skills, with medium effect sizes. This work contributes to knowledge of the FMR1 premutation phenotype and its consequences at the family level, with the goal of identifying modifiable aspects of the child's language-learning environment that may promote the selection of treatments targeting the specific needs of families affected by fragile X. Findings contribute to our understanding of the multifaceted environment in which children with fragile X syndrome learn language and highlight the importance of family-centered intervention practices for this group.

  19. Pancreatitis, panniculitis, and polyarthritis (PPP) syndrome: MRI features of intraosseous fat necrosis involving the feet and knees.

    Science.gov (United States)

    Kang, Dong Joo; Lee, Sun Joo; Choo, Hye Jung; Her, Minyoung; Yoon, Hye Kyoung

    2017-02-01

    Pancreatitis, panniculitis, and polyarthritis (PPP) syndrome is extremely rare and presents as a triad of the three diseases. The patient usually presents with mild or absent abdominal symptoms. Here, we report on a case of a 66-year-old male who presented with pain and swelling in both legs and mild abdominal pain. He was diagnosed with acute pancreatitis by pancreatic enzyme analysis and abdominal computed tomography (CT) and with skin lesions of panniculitis through a biopsy. Magnetic resonance imaging (MRI) revealed multifocal intraosseous fat necrosis and arthritis involving both the feet and the knees. Therefore, we report a case of PPP syndrome with intraosseous fat necrosis involving both the feet and the knees.

  20. Pancreatitis, panniculitis, and polyarthritis (PPP) syndrome: MRI features of intraosseous fat necrosis involving the feet and knees

    Energy Technology Data Exchange (ETDEWEB)

    Kang, Dong Joo; Lee, Sun Joo; Choo, Hye Jung [Busan Paik Hospital, Department of Radiology, Inje University College of Medicine, Busan (Korea, Republic of); Her, Minyoung [Busan Paik Hospital, Division of Rheumatology, Department of Internal Medicine, Inje University College of Medicine, Busan (Korea, Republic of); Yoon, Hye Kyoung [Busan Paik Hospital, Department of Pathology, Inje University College of Medicine, Busan (Korea, Republic of)

    2017-02-15

    Pancreatitis, panniculitis, and polyarthritis (PPP) syndrome is extremely rare and presents as a triad of the three diseases. The patient usually presents with mild or absent abdominal symptoms. Here, we report on a case of a 66-year-old male who presented with pain and swelling in both legs and mild abdominal pain. He was diagnosed with acute pancreatitis by pancreatic enzyme analysis and abdominal computed tomography (CT) and with skin lesions of panniculitis through a biopsy. Magnetic resonance imaging (MRI) revealed multifocal intraosseous fat necrosis and arthritis involving both the feet and the knees. Therefore, we report a case of PPP syndrome with intraosseous fat necrosis involving both the feet and the knees. (orig.)

  1. Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL).

    Science.gov (United States)

    Elouej, Sahar; Beleza-Meireles, Ana; Caswell, Richard; Colclough, Kevin; Ellard, Sian; Desvignes, Jean Pierre; Béroud, Christophe; Lévy, Nicolas; Mohammed, Shehla; De Sandre-Giovannoli, Annachiara

    2017-06-01

    Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL) is an autosomal dominant systemic disorder characterized by prominent loss of subcutaneous fat, a characteristic facial appearance and metabolic abnormalities. This syndrome is caused by heterozygous de novo mutations in the POLD1 gene. To date, 19 patients with MDPL have been reported in the literature and among them 14 patients have been characterized at the molecular level. Twelve unrelated patients carried a recurrent in-frame deletion of a single codon (p.Ser605del) and two other patients carried a novel heterozygous mutation in exon 13 (p.Arg507Cys). Additionally and interestingly, germline mutations of the same gene have been involved in familial polyposis and colorectal cancer (CRC) predisposition. We describe a male and a female patient with MDPL respectively affected with mild and severe phenotypes. Both of them showed mandibular hypoplasia, a beaked nose with bird-like facies, prominent eyes, a small mouth, growth retardation, muscle and skin atrophy, but the female patient showed such a severe and early phenotype that a first working diagnosis of Hutchinson-Gilford Progeria was made. The exploration was performed by direct sequencing of POLD1 gene exon 15 in the male patient with a classical MDPL phenotype and by whole exome sequencing in the female patient and her unaffected parents. Exome sequencing identified in the latter patient a de novo heterozygous undescribed mutation in the POLD1 gene (NM_002691.3: c.3209T>A), predicted to cause the missense change p.Ile1070Asn in the ZnF2 (Zinc Finger 2) domain of the protein. This mutation was not reported in the 1000 Genome Project, dbSNP and Exome sequencing databases. Furthermore, the Isoleucine1070 residue of POLD1 is highly conserved among various species, suggesting that this substitution may cause a major impairment of POLD1 activity. For the second patient, affected with a typical MDPL phenotype, direct sequencing

  2. A missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic features.

    Science.gov (United States)

    Mohamoud, Hussein Sheikh; Ahmed, Saleem; Jelani, Musharraf; Alrayes, Nuha; Childs, Kay; Vadgama, Nirmal; Almramhi, Mona Mohammad; Al-Aama, Jumana Yousuf; Goodbourn, Steve; Nasir, Jamal

    2018-02-01

    Childhood onset clinical syndromes involving intellectual disability and dysmorphic features, such as polydactyly, suggest common developmental pathways link seemingly unrelated phenotypes. We identified a consanguineous family of Saudi origin with varying complex features including intellectual disability, speech delay, facial dysmorphism and polydactyly. Combining, microarray based comparative genomic hybridisation (CGH) to identify regions of homozygosity, with exome sequencing, led to the identification of homozygous mutations in five candidate genes (RSPH6A, ANKK1, AMOTL1, ALKBH8, TRAPPC6A), all of which appear to be pathogenic as predicted by Proven, SIFT and PolyPhen2 and segregate perfectly with the disease phenotype. We therefore looked for differences in expression levels of each protein in HEK293 cells, expressing either the wild-type or mutant full-length cDNA construct. Unexpectedly, wild-type TRAPPC6A appeared to be unstable, but addition of the proteasome inhibitor MG132 stabilised its expression. Mutations have previously been reported in several members of the TRAPP complex of proteins, including TRAPPC2, TRAPPC9 and TRAPPC11, resulting in disorders involving skeletal abnormalities, intellectual disability, speech impairment and developmental delay. TRAPPC6A joins a growing list of proteins belonging to the TRAPP complex, implicated in clinical syndromes with neurodevelopmental abnormalities.

  3. Healthy Nordic diet downregulates the expression of genes involved in inflammation in subcutaneous adipose tissue in individuals with features of the metabolic syndrome.

    Science.gov (United States)

    Kolehmainen, Marjukka; Ulven, Stine M; Paananen, Jussi; de Mello, Vanessa; Schwab, Ursula; Carlberg, Carsten; Myhrstad, Mari; Pihlajamäki, Jussi; Dungner, Elisabeth; Sjölin, Eva; Gunnarsdottir, Ingibjörg; Cloetens, Lieselotte; Landin-Olsson, Mona; Akesson, Björn; Rosqvist, Fredrik; Hukkanen, Janne; Herzig, Karl-Heinz; Dragsted, Lars O; Savolainen, Markku J; Brader, Lea; Hermansen, Kjeld; Risérus, Ulf; Thorsdottir, Inga; Poutanen, Kaisa S; Uusitupa, Matti; Arner, Peter; Dahlman, Ingrid

    2015-01-01

    Previously, a healthy Nordic diet (ND) has been shown to have beneficial health effects close to those of Mediterranean diets. The objective was to explore whether the ND has an impact on gene expression in abdominal subcutaneous adipose tissue (SAT) and whether changes in gene expression are associated with clinical and biochemical effects. Obese adults with features of the metabolic syndrome underwent an 18- to 24-wk randomized intervention study comparing the ND with the control diet (CD) (the SYSDIET study, carried out within Nordic Centre of Excellence of the Systems Biology in Controlled Dietary Interventions and Cohort Studies). The present study included participants from 3 Nordic SYSDIET centers [Kuopio (n = 20), Lund (n = 18), and Oulu (n = 18)] with a maximum weight change of ±4 kg, highly sensitive C-reactive protein concentration diet reduces inflammatory gene expression in SAT compared with a control diet independently of body weight change in individuals with features of the metabolic syndrome. © 2015 American Society for Nutrition.

  4. Exome sequencing identifies a novel EP300 frame shift mutation in a patient with features that overlap Cornelia de Lange syndrome.

    Science.gov (United States)

    Woods, Susan A; Robinson, Haynes B; Kohler, Lisa J; Agamanolis, Dimitris; Sterbenz, George; Khalifa, Mohamed

    2014-01-01

    Rubinstein-Taybi syndrome (RTS) and Cornelia de Lange syndrome (CdLS) are genetically heterogeneous multiple anomalies syndromes, each having a distinctive facial gestalt. Two genes (CREBBP and EP300) are known to cause RTS, and five (NIPBL, SMC1A, SMC3, RAD21, and HDAC8) have been associated with CdLS. A diagnosis of RTS or CdLS is molecularly confirmed in only 65% of clinically identified cases, suggesting that additional causative genes exist for both conditions. In addition, although EP300 and CREBBP encode homologous proteins and perform similar functions, only eight EP300 positive RTS patients have been reported, suggesting that patients with EP300 mutations might be escaping clinical recognition. We report on a child with multiple congenital abnormalities and intellectual disability whose facial features and complex phenotype resemble CdLS. However, no mutations in CdLS-related genes were identified. Rather, a novel EP300 mutation was found on whole exome sequencing. Possible links between EP300 and genes causing CdLS are evident in the literature. Both EP300 and HDAC8 are involved in the regulation of TP53 transcriptional activity. In addition, p300 and other chromatin associated proteins, including NIPBL, SMCA1, and SMC3, have been found at enhancer regions in different cell types. It is therefore possible that EP300 and CdLS-related genes are involved in additional shared pathways, producing overlapping phenotypes. As whole exome sequencing becomes more widely utilized, the diverse phenotypes associated with EP300 mutations should be better understood. In the meantime, testing for EP300 mutations in those with features of CdLS may be warranted. © 2013 Wiley Periodicals, Inc.

  5. [A de novo partial 5p deletion and cryptic 18p duplication detected by SNP-Array in a boy featuring Cri du Chat syndrome].

    Science.gov (United States)

    Hu, Jian-cheng; Tan, Ke; Cheng, De-hua; Li, Lu-yun; Lu, Guang-xiu; Tan, Yue-qiu

    2013-02-01

    To determine the karyotype of a boy suspected to have Cri du Chat syndrome with severe clinical manifestations, and to assess the recurrence risk for his family. High-resolution GTG banding was performed to analyze the patient and his parents. Fluorescence in situ hybridization (FISH) with Cri du Chat syndrome region probe as well as subregional probes mapped to 5pter, 5qter, 18pter, 18qter, and whole chromosome painting probe 18 was performed to analyze the patient and his parents. In addition, single nucleotide polymorphism-based arrays (SNP-Array) analysis with Affymetrix GeneChip Genome-wide Human SNP Nsp/Sty 6.0 were also performed to analyze the patient. Karyotype analysis indicated that the patient has carried a terminal deletion in 5p. FISH with Cri du Chat syndrome region probe confirmed that D5S23 and D5S721 loci are deleted. SNP-Array has detected a 15 Mb deletion at 5p and a 2 Mb duplication at 18p. FISH with 5p subtelomeric probes and 18p subtelomeric probe further confirmed that the derivative chromosome 5 has derived from a translocation between 5p and 18p, which has given rise to a 46,XY,der(5)t(5;18)(p15.1;p11.31)dn karyotype. A de novo 5p partial deletion in conjunction with a cryptic 18p duplication has been detected in a boy featuring Cri-du-Chat syndrome. His parents, both with negative findings, have a low recurrence risk. For its ability to detect chromosomal imbalance, SNP-Array has a great value for counseling of similar patients and assessment of recurrence risks.

  6. The design of features for a mobile health application for the management of interstitial cystitis/painful bladder syndrome

    OpenAIRE

    Griffith, Janessa

    2016-01-01

    Introduction: Interstitial cystitis/painful bladder syndrome (IC/PBS) is a condition characterized by recurrent pain or discomfort in the bladder and pelvic floor in the absence of an infection or other disease. Common symptoms include pain, urgent and frequent need to urinate and nocturia [1]. Some people experience worsened symptoms with certain foods, and in females, menstruation [1]. Approximately 3.3 to 7.9 million (2.7% to 6.53%) female adults over 18 years of age [2] and 2.1 to 4.6 mil...

  7. A novel single point mutation of the LYST gene in two siblings with different phenotypic features of Chediak Higashi syndrome.

    Science.gov (United States)

    Kaya, Zuhre; Ehl, Stephan; Albayrak, Meryem; Maul-Pavicic, Andrea; Schwarz, Klaus; Kocak, Ulker; Ergun, Mehmet Ali; Gursel, Turkiz

    2011-07-01

    Chediak Higashi syndrome (CHS) is an autosomal-recessive disorder characterized by oculocutaneous albinism, recurrent infections and a progressive primary neurological disease. Here, we describe two siblings with CHS due to a novel homozygous R1836X mutation in the LYST gene associated with loss of NK cell degranulation and cytotoxicity. While one sibling was born with fair skin and hair and died of hemophagocytic lymphohistiocytosis (HLH) at 5 months of age, the other sibling had dark black hair and skin and developed HLH at the age of 4 years. Copyright © 2011 Wiley-Liss, Inc.

  8. Cicatrizing Conjunctivitis in a Patient Diagnosed With Drug Reaction With Eosinophilia and Systemic Symptoms/Drug-Induced Hypersensitivity Syndrome but With Features of Stevens-Johnson Syndrome.

    Science.gov (United States)

    Bohm, Kelley J; Ciralsky, Jessica B; Harp, Joanna L; Bajaj, Shirin; Sippel, Kimberly C

    2016-06-01

    Severe cutaneous adverse reactions to drugs (SCARs) such as Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) and drug reaction with eosinophilia and systemic symptoms/drug-induced hypersensitivity syndrome (DRESS/DIHS) serve as one of the main reasons for inpatient ophthalmic consultation. Although it is well-recognized that SJS/TEN is associated with severe ocular mucosal inflammation and cicatrizing, potentially blinding, sequelae, this association has not been described in relation to other SCARs. We present a patient fulfilling the diagnostic criteria for probable DRESS/DIHS but not for SJS/TEN, yet exhibiting the severe ocular surface involvement characteristic of SJS/TEN. Case report. A 64-year-old man presented with bilateral pseudomembranous conjunctivitis and conjunctival denudation (sloughing) in the setting of a maculopapular rash, fever, liver dysfunction, and hematologic abnormalities 1 month after initiating several medications. A skin biopsy was not consistent with SJS/TEN. The patient was diagnosed with probable DRESS/DIHS and treated with high-dose systemic corticosteroids. The ocular surface inflammation was addressed with intensive topical corticosteroid ointment. The pseudomembranes resolved over a 6-week period, but the patient exhibited residual conjunctival scarring of all palpebral surfaces. The development of severe ocular surface mucosal inflammation and denudation with cicatrizing sequelae in a patient carrying a diagnosis of DRESS/DIHS has diagnostic and therapeutic implications for the ophthalmologist. Careful ophthalmic assessment is indicated in any SCAR patient with ophthalmic symptoms, regardless of formal diagnosis. Furthermore, the early therapeutic interventions recently recommended in SJS/TEN to limit the ophthalmic cicatricial sequelae, such as systemic or topical corticosteroids, may be indicated.

  9. The face in marfan syndrome: A 3D quantitative approach for a better definition of dysmorphic features.

    Science.gov (United States)

    Dolci, Claudia; Pucciarelli, Valentina; Gibelli, Daniele M; Codari, Marina; Marelli, Susan; Trifirò, Giuliana; Pini, Alessandro; Sforza, Chiarella

    2018-04-01

    Marfan syndrome (MFS) is a rare hereditable disorder of connective tissue caused by mutations in the fibrillin-1 gene FBN1. Timely diagnosis of MFS is essential to prevent life-threatening cardiovascular complications; nevertheless it can be difficult owing to the phenotypic variability of the syndrome. No clear quantitative definition of facial abnormalities associated with MFS is available. The aim of this study was to improve the definition of the facial phenotype associated with MFS and to verify the usefulness of a 3D noninvasive quantitative approach for its early recognition. 3D facial images of 61 Italian subjects with MFS, aged 16-64 years (21 males, 38 ± 15 years; 40 females, 41 ± 13 years) were obtained by stereophotogrammetry. From the coordinates of 17 soft-tissue facial landmarks, linear distances and angles were computed; z score values were calculated to compare patients with healthy reference subjects (400 males, 379 females) matched for sex and age. Student's t test was used for statistical comparisons. All subjects with MFS showed greater facial divergence (P sex differences. Quantitative abnormalities identified in this study enrich information about the facial dysmorphism in MFS and confirm its usefulness for early recognition of the disease. Clin. Anat. 31:380-386, 2018. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

  10. FOXP3 mutations causing early-onset insulin-requiring diabetes but without other features of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.

    Science.gov (United States)

    Hwang, Jessica L; Park, Soo-Young; Ye, Honggang; Sanyoura, May; Pastore, Ashley N; Carmody, David; Del Gaudio, Daniela; Wilson, Janna F; Hanis, Craig L; Liu, Xiaoming; Atzmon, Gil; Glaser, Benjamin; Philipson, Louis H; Greeley, Siri Atma W

    2017-11-29

    Diabetes occurs in 1/90 000 to 1/160 000 births and when diagnosed under 6 months of age is very likely to have a primary genetic cause. FOXP3 encodes a transcription factor critical for T regulatory cell function and mutations are known to cause "immune dysregulation, polyendocrinopathy (including insulin-requiring diabetes), enteropathy, X-linked" (IPEX) syndrome. This condition is often fatal unless patients receive a bone-marrow transplant. Here we describe the phenotype of male neonates and infants who had insulin-requiring diabetes without other features of IPEX syndrome and were found to have mutations in FOXP3. Whole-exome or next generation sequencing of genes of interest was carried out in subjects with isolated neonatal diabetes without a known genetic cause. RT-PCR was carried out to investigate the effects on RNA splicing of a novel intronic splice-site variant. Four male subjects were found to have FOXP3 variants in the hemizygous state: p.Arg114Trp, p.Arg347His, p.Lys393Met, and c.1044+5G>A which was detected in 2 unrelated probands and in a brother diagnosed with diabetes at 2.1 years of age. Of these, p.Arg114Trp is likely a benign rare variant found in individuals of Ashkenazi Jewish ancestry and p.Arg347His has been previously described in patients with classic IPEX syndrome. The p.Lys393Met and c.1044+5G>A variants are novel to this study. RT-PCR studies of the c.1044+5G>A splice variant confirmed it affected RNA splicing by generating both a wild type and truncated transcript. We conclude that FOXP3 mutations can cause early-onset insulin-requiring diabetes with or without other features of IPEX syndrome. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  11. Clinical and Brain Magnetic Resonance Imaging Features in a Cohort of Chinese Patients with Kearns-Sayre Syndrome

    Directory of Open Access Journals (Sweden)

    Meng Yu

    2016-01-01

    Conclusions: The clinical features of KSS evolve dynamically, affecting the cardiac conduction system predominantly, highlighting the significance of ECG monitoring. Brain MRI showed changes involving both the white matter and deep gray nuclei. Clinical presentation or severity of muscle pathological changes is not related to the size of mtDNA deletions.

  12. Deletion of 11q12.3-11q13.1 in a patient with intellectual disability and childhood facial features resembling Cornelia de Lange syndrome.

    Science.gov (United States)

    Boyle, Martine Isabel; Jespersgaard, Cathrine; Nazaryan, Lusine; Ravn, Kirstine; Brøndum-Nielsen, Karen; Bisgaard, Anne-Marie; Tümer, Zeynep

    2015-11-01

    Deletions within 11q12.3-11q13.1 are very rare and to date only two cases have been described in the literature. In this study we describe a 23-year-old male patient with intellectual disability, behavioral problems, dysmorphic features, dysphagia, gastroesophageal reflux and skeletal abnormalities. Cornelia de Lange syndrome (CdLS, OMIM #122470; #300590; #610759; #300882; #614701) was suggested as a differential diagnosis in childhood although he lacked some of the features typical for this disorder. He does not have a mutation in any of the five known CdLS genes (NIPBL, SMC1A, SMC3, HDAC8, RAD21), but a 1.6Mb deletion at chromosome region 11q12.3-11q13.1 was detected by chromosome microarray. The deletion contains several genes including PPP2R5B, which has been associated with intellectual disability and overgrowth; NRXN2, which has been associated with intellectual disability and autism spectrum disorder; and CDCA5, which is part of the cohesin pathway, as are all the five known CdLS genes. It is therefore possible that deletion of CDCA5 may account for some of the CdLS like features of the present case. Copyright © 2015 Elsevier B.V. All rights reserved.

  13. Clinical features, diagnosis, treatment and molecular studies in paediatric Cushing's syndrome due to primary nodular adrenocortical hyperplasia

    DEFF Research Database (Denmark)

    Storr, Helen L; Mitchell, J H; Swords, F M

    2004-01-01

    BACKGROUND: Primary nodular adrenocortical hyperplasia (PNAH) is a well recognized, but infrequently studied cause of paediatric Cushing's syndrome (CS). OBJECTIVE: To assess presentation, diagnosis, radiological imaging, treatment and molecular analysis of patients with childhood-onset CS due...... to PNAH. PATIENTS: Four males and two females (median age 12.9 years, range 10.9-16.9 years) were studied. RESULTS: All had growth failure (mean height SDS -1.2; range -2.5-0.0), weight gain [mean body mass index (BMI) SDS 3.5; range 2.5-4.6] and clinical virilization, while five had hypertension [mean...... systolic blood pressure (SBP) 130 mmHg, diastolic blood pressure (DBP) 83 mmHg]. One patient had generalized lentigines, one had a tibial chondromyxomatous cyst and two had facial freckling. One patient had a family history of primary nodular adrenocortical disease. The diagnosis of CS was based...

  14. Loss of magel2, a candidate gene for features of Prader-Willi syndrome, impairs reproductive function in mice.

    Directory of Open Access Journals (Sweden)

    Rebecca E Mercer

    Full Text Available BACKGROUND: MAGEL2 is one of several genes typically inactivated in the developmental obesity disorder Prader-Willi syndrome (PWS. The physiological consequences of loss of MAGEL2, but without the concurrent loss of other PWS genes, are not well understood. Gene-targeted mutation of Magel2 in mice disrupts circadian rhythm and metabolism causing reduced total activity, reduced weight gain before weaning, and increased adiposity after weaning. PRINCIPAL FINDINGS: We now show that loss of Magel2 in mice causes reduced fertility in both males and females through extended breeding intervals and early reproductive decline and termination. Female Magel2-null mice display extended and irregular estrous cycles, while males show decreased testosterone levels, and reduced olfactory preference for female odors. CONCLUSIONS: Our results suggest that loss of MAGEL2 contributes to the reproductive deficits seen in people with PWS, and further highlights the role of normal circadian rhythm in the maintenance of fertility.

  15. CP-25 Alleviates Experimental Sjögren's Syndrome Features in NOD/Ltj Mice and Modulates T Lymphocyte Subsets.

    Science.gov (United States)

    Gu, Fang; Xu, Shixia; Zhang, Pengying; Chen, Xiaoyun; Wu, Yujing; Wang, Chun; Gao, Mei; Si, Min; Wang, Xinming; Heinrich, Korner; Wu, Huaxun; Wei, Wei

    2018-04-17

    Primary Sjögren's syndrome (pSS) is a chronic inflammatory autoimmune illness of the moisture-producing glands such as salivary glands that is characterized by various immune abnormalities. The aetiology of pSS remains unclear and there is no curative agent. In this study, we investigated the putative therapeutic effects on a NOD/Ltj mouse model of Sjögren's syndrome-like disorders of an ester derivative of paeoniflorin, Paeoniflorin-6'O-benzene (termed CP-25). Our study showed that CP-25 alleviated effectively clinical manifestations in NOD/Ltj mice resulting for example in increased salivary flow and reduced histopathological scores. Furthermore, CP-25 decreased lymphocyte viability in NOD/Ltj mice and attenuated the infiltration of Th1 cells and Th2 cells into the salivary glands of NOD/Ltj mice. In the spleen on NOD/Ltj mice, CP-25 skewed the ratio of Th17 and regulatory T cells towards regulatory T cells. After treatment, concentrations of anti-La/SSB and IgG antibodies were reduced and the titer of the inflammatory cytokines IFN-γ, IL-4, IL-6 and IL-17A in the serum on NOD/Ltj mice was alleviated. Thus, we define CP-25 as a novel compound that is a potent therapeutic agent for pSS by modulating T lymphocyte subsets. Future studies will validate the use of CP-25 as a therapeutic strategy for the treatment of pSS. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.

  16. Gene expression profiling reveals the defining features of monocytes from septic patients with compensatory anti-inflammatory response syndrome.

    Science.gov (United States)

    Xu, Ping-bo; Lou, Jing-Sheng; Ren, Yu; Miao, Chang-Hong; Deng, Xiao-ming

    2012-11-01

    To characterize the expression profiles of genes in purified monocytes from septic patients during systemic inflammatory response syndrome (SIRS) and compensatory anti-inflammatory response syndrome (CARS), and then to investigate the potential mechanism of monocyte deactivation. Lipopolysaccharides (LPS)-induced cytokine responses, phagocytosis assay and migration assay were performed in monocytes from SIRS patients, CARS patients and healthy volunteers (n = 8). After functional assays, each pair of samples from the same group was pooled into one for gene expression analysis. All new samples (n = 4) were hybridized on NimbleGen human gene expression 12 × 135 K microarrays, and selected genes were validated by real-time polymerase chain reaction. Pathway analysis and Gene Ontology analysis were performed on differentially expressed genes using Agilent GeneSpring (version 11.0). A set of genes related to pro-inflammation, phagocytosis, chemotaxis, antigen presentation, and anti-apoptosis were significantly down-regulated, while some genes associated with pro-apoptosis and anti-inflammation were up-regulated instead on monocytes from CARS patients compared with SIRS patients and healthy volunteers. Monocytes from CARS patients showed impaired production of TNF-α and IL-6, and increased release of IL-10 when stimulated by LPS. Functional analysis confirmed reduced phagocytosis and migratory activity of monocytes from CARS patients. Human leukocyte antigen-DR (HLA-DR) measurements demonstrated decreased expression of HLA-DR on monocytes from CARS patients. Monocytes from CARS patients exhibited significant changes in mRNA expression of genes associated with phagocytosis, antigen presentation, inflammatory response, cell migration, and apoptosis, which might cause deactivation of monocytes during CARS. Copyright © 2012 The British Infection Association. Published by Elsevier Ltd. All rights reserved.

  17. MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions

    DEFF Research Database (Denmark)

    Kirchhoff, Maria; Bisgaard, Anne-Marie; Bryndorf, Thue

    2007-01-01

    -Beuren, Prader-Willi, Angelman, Miller-Dieker, Smith-Magenis, and 22q11-deletion syndromes). Patients were initially referred for HR-CGH analysis and MRS-MLPA was performed retrospectively. MRS-MLPA analysis revealed imbalances in 15/258 patients (5.8%). Ten deletions were identified, including deletions of 1p36......MLPA analysis for a panel of syndromes with mental retardation (MRS-MLPA) was used for investigation of 258 mentally retarded and dysmorphic patients with normal conventional karyotypes (P064 probe set, MRC-Holland, for detection of (micro)deletions associated with 1p36-deletion, Sotos, Williams......, 5q35 (Sotos syndrome), 7q11 (Williams-Beuren syndrome), 17p11 (Smith-Magenis syndrome), 15q11 (Angelman syndrome) and 22q11. Duplications were detected in 5q35, 7q11, 17p13, 17p11 and 22q11. We reviewed another 170 patients referred specifically for MRS-MLPA analysis. Eighty of these patients were...

  18. Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome.

    Science.gov (United States)

    Bélien, Valérie; Gérard-Blanluet, Marion; Serero, Stéphane; Le Dû, Nathalie; Baumann, Clarisse; Jacquemont, Marie-Line; Dupont, Céline; Krabchi, Kada; Drunat, Séverine; Elbez, Annie; Janaud, Jean-Claude; Benzacken, Brigitte; Verloes, Alain; Tabet, Anne-Claude; Aboura, Azzedine

    2008-07-15

    Small supernumerary marker chromosomes are present in about 0.05% of the human population. In approximately 28% of persons with these markers (excluding the approximately 60% derived from one of the acrocentric chromosomes), an abnormal phenotype is observed. We report on a 3-month-old girl with intrauterine growth retardation, craniofacial features, hypotonia, partial coloboma of iris and total anomalous pulmonary venous return. Cytogenetic analysis showed the presence of a supernumerary marker chromosome, identified by fluorescence in situ hybridization as part of chromosome 22, and conferring a proximal partial trisomy 22q22.21, not encompassing the DiGeorge critical region (RP11-154H4 + , TBX1-). This observation adds new information relevant to cat eye syndrome and partial trisomy of 22q. 2008 Wiley-Liss, Inc.

  19. Performance of a new quantitative method for assessing dural ectasia in patients with FBN1 mutations and clinical features of Marfan syndrome

    International Nuclear Information System (INIS)

    Soeylen, Bahar; Schmidtke, Joerg; Arslan-Kirchner, Mine; Hinz, Kerstin; Prokein, Jana; Becker, Hartmut

    2009-01-01

    This study presents a comparison of established methods for measuring dural ectasia with a new quantitative method of assessing this clinical feature. Seventeen patients with an identified mutation in FBN1 were examined for dural ectasia. The results were compared with 17 age- and sex-matched controls. Our images were also evaluated using the two methods of quantifying dural ectasia, namely those of Ahn et al. and of Oosterhof et al. With our method, 80% MFS1 patients and 7% controls fulfilled the criterion for dural ectasia. Using the method of Oosterhof et al., dural ectasia was found in 88% patients with MFS1 and in 47% controls. Using the method of Ahn et al. 76% patients with Marfan syndrome and 29% controls showed dural ectasia. We present a novel quantitative method of evaluating MRT images for dural ectasia, which, in our own patient cohort, performed better than those previously described. (orig.)

  20. Performance of a new quantitative method for assessing dural ectasia in patients with FBN1 mutations and clinical features of Marfan syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Soeylen, Bahar; Schmidtke, Joerg; Arslan-Kirchner, Mine [Hannover Medical School, Institute of Human Genetics, Hannover (Germany); Hinz, Kerstin [Hannover Medical School, Institute of Diagnostic and Interventional Neuroradiology, Hannover (Germany); Vivantes Klinikum Neukoelln, Institut fuer Radiologie und Interventionelle Therapie, Berlin (Germany); Prokein, Jana [Hannover Medical School, Institute for Biometrics, Hannover (Germany); Becker, Hartmut [Hannover Medical School, Institute of Diagnostic and Interventional Neuroradiology, Hannover (Germany)

    2009-06-15

    This study presents a comparison of established methods for measuring dural ectasia with a new quantitative method of assessing this clinical feature. Seventeen patients with an identified mutation in FBN1 were examined for dural ectasia. The results were compared with 17 age- and sex-matched controls. Our images were also evaluated using the two methods of quantifying dural ectasia, namely those of Ahn et al. and of Oosterhof et al. With our method, 80% MFS1 patients and 7% controls fulfilled the criterion for dural ectasia. Using the method of Oosterhof et al., dural ectasia was found in 88% patients with MFS1 and in 47% controls. Using the method of Ahn et al. 76% patients with Marfan syndrome and 29% controls showed dural ectasia. We present a novel quantitative method of evaluating MRT images for dural ectasia, which, in our own patient cohort, performed better than those previously described. (orig.)

  1. Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome

    Science.gov (United States)

    Hempel, Annmarie; Pagnamenta, Alistair T; Blyth, Moira; Mansour, Sahar; McConnell, Vivienne; Kou, Ikuyo; Ikegawa, Shiro; Tsurusaki, Yoshinori; Matsumoto, Naomichi; Lo-Castro, Adriana; Plessis, Ghislaine; Albrecht, Beate; Battaglia, Agatino; Taylor, Jenny C; Howard, Malcolm F; Keays, David; Sohal, Aman Singh; Kühl, Susanne J; Kini, Usha; McNeill, Alisdair

    2016-01-01

    Background SOX11 is a transcription factor proposed to play a role in brain development. The relevance of SOX11 to human developmental disorders was suggested by a recent report of SOX11 mutations in two patients with Coffin–Siris syndrome. Here we further investigate the role of SOX11 variants in neurodevelopmental disorders. Methods We used array based comparative genomic hybridisation and trio exome sequencing to identify children with intellectual disability who have deletions or de novo point mutations disrupting SOX11. The pathogenicity of the SOX11 mutations was assessed using an in vitro gene expression reporter system. Loss-of-function experiments were performed in xenopus by knockdown of Sox11 expression. Results We identified seven individuals with chromosome 2p25 deletions involving SOX11. Trio exome sequencing identified three de novo SOX11 variants, two missense (p.K50N; p.P120H) and one nonsense (p.C29*). The biological consequences of the missense mutations were assessed using an in vitro gene expression system. These individuals had microcephaly, developmental delay and shared dysmorphic features compatible with mild Coffin–Siris syndrome. To further investigate the function of SOX11, we knocked down the orthologous gene in xenopus. Morphants had significant reduction in head size compared with controls. This suggests that SOX11 loss of function can be associated with microcephaly. Conclusions We thus propose that SOX11 deletion or mutation can present with a Coffin–Siris phenotype. PMID:26543203

  2. Juvenile muscular atrophy of the distal upper extremities associated with x-linked periventricular heterotopia with features of Ehlers-Danlos syndrome.

    Science.gov (United States)

    Hommel, Alyson L; Jewett, Tamison; Mortenson, Megan; Caress, James B

    2016-10-01

    Juvenile muscular atrophy of the distal upper extremities (JMADUE) is a rare, sporadic disorder that affects adolescent males and is characterized by progressive but self-limited weakness of the distal upper extremities. The etiology is unknown, but cervical hyperflexion has been hypothesized. We report a case of an adolescent male who presented with typical JMADUE but also had joint hypermobility and multiple congenital anomalies, including periventricular heterotopias, suggesting a multisystem syndrome. Subsequent diagnostic testing confirmed a diagnosis of JMADUE, and sequencing of the filamin-A gene showed a novel, pathogenic mutation that confirmed an additional diagnosis of X-linked periventricular heterotopias with features of Ehlers-Danlos syndrome (XLPH-EDS). The concurrent diagnosis of these 2 rare conditions suggests a pathogenic connection. It is likely that the joint hypermobility from XLPH-EDS predisposed this patient to developing JMADUE. This supports the cervical hyperflexion theory of pathogenesis. This case also expands the phenotype associated with FLNA mutations. Muscle Nerve 54: 794-797, 2016. © 2016 Wiley Periodicals, Inc.

  3. Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23.

    Science.gov (United States)

    Mowat, D R; Croaker, G D; Cass, D T; Kerr, B A; Chaitow, J; Adès, L C; Chia, N L; Wilson, M J

    1998-01-01

    We have identified six children with a distinctive facial phenotype in association with mental retardation (MR), microcephaly, and short stature, four of whom presented with Hirschsprung (HSCR) disease in the neonatal period. HSCR was diagnosed in a further child at the age of 3 years after investigation for severe chronic constipation and another child, identified as sharing the same facial phenotype, had chronic constipation, but did not have HSCR. One of our patients has an interstitial deletion of chromosome 2, del(2)(q21q23). These children strongly resemble the patient reported by Lurie et al with HSCR and dysmorphic features associated with del(2)(q22q23). All patients have been isolated cases, suggesting a contiguous gene syndrome or a dominant single gene disorder involving a locus for HSCR located at 2q22-q23. Review of published reports suggests that there is significant phenotypic and genetic heterogeneity within the group of patients with HSCR, MR, and microcephaly. In particular, our patients appear to have a separate disorder from Goldberg-Shprintzen syndrome, for which autosomal recessive inheritance has been proposed because of sib recurrence and consanguinity in some families. Images PMID:9719364

  4. BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1

    Directory of Open Access Journals (Sweden)

    Estivill Xavier

    2009-12-01

    Full Text Available Abstract Background Microdeletion of the chromosome 22q11.2 region is the most common genetic aberration among patients with velocardiofacial syndrome (VCFS but a subset of subjects do not show alterations of this chromosome region. Methods We analyzed 18 patients with VCFS-like features by comparative genomic hybridisation (aCGH array and performed a face-to-face slide hybridization with two different arrays: a whole genome and a chromosome 22-specific BAC array. Putative rearrangements were confirmed by FISH and MLPA assays. Results One patient carried a combination of rearrangements on 1q21.1, consisting in a microduplication of 212 kb and a close microdeletion of 1.15 Mb, previously reported in patients with variable phenotypes, including mental retardation, congenital heart defects (CHD and schizophrenia. While 326 control samples were negative for both 1q21.1 rearrangements, one of 73 patients carried the same 212-kb microduplication, reciprocal to TAR microdeletion syndrome. Also, we detected four copy number variants (CNVs inherited from one parent (a 744-kb duplication on 10q11.22; a 160 kb duplication and deletion on 22q11.21 in two cases; and a gain of 140 kb on 22q13.2, not present in control subjects, raising the potential role of these CNVs in the VCFS-like phenotype. Conclusions Our results confirmed aCGH as a successful strategy in order to characterize additional submicroscopic aberrations in patients with VCF-like features that fail to show alterations in 22q11.2 region. We report a 212-kb microduplication on 1q21.1, detected in two patients, which may contribute to CHD.

  5. TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.

    Directory of Open Access Journals (Sweden)

    Tsutomu Ogata

    Full Text Available BACKGROUND: Although TBX1 mutations have been identified in patients with 22q11.2 deletion syndrome (22q11.2DS-like phenotypes including characteristic craniofacial features, cardiovascular anomalies, hypoparathyroidism, and thymic hypoplasia, the frequency of TBX1 mutations remains rare in deletion-negative patients. Thus, it would be reasonable to perform a comprehensive genetic analysis in deletion-negative patients with 22q11.2DS-like phenotypes. METHODOLOGY/PRINCIPAL FINDINGS: We studied three subjects with craniofacial features and hypocalcemia (group 1, two subjects with craniofacial features alone (group 2, and three subjects with normal phenotype within a single Japanese family. Fluorescence in situ hybridization analysis excluded chromosome 22q11.2 deletion, and genomewide array comparative genomic hybridization analysis revealed no copy number change specific to group 1 or groups 1+2. However, exome sequencing identified a heterozygous TBX1 frameshift mutation (c.1253delA, p.Y418fsX459 specific to groups 1+2, as well as six missense variants and two in-frame microdeletions specific to groups 1+2 and two missense variants specific to group 1. The TBX1 mutation resided at exon 9C and was predicted to produce a non-functional truncated protein missing the nuclear localization signal and most of the transactivation domain. CONCLUSIONS/SIGNIFICANCE: Clinical features in groups 1+2 are well explained by the TBX1 mutation, while the clinical effects of the remaining variants are largely unknown. Thus, the results exemplify the usefulness of exome sequencing in the identification of disease-causing mutations in familial disorders. Furthermore, the results, in conjunction with the previous data, imply that TBX1 isoform C is the biologically essential variant and that TBX1 mutations are associated with a wide phenotypic spectrum, including most of 22q11.2DS phenotypes.

  6. Pulmonary autoimmunity as a feature of autoimmune polyendocrine syndrome type 1 and identification of KCNRG as a bronchial autoantigen.

    Science.gov (United States)

    Alimohammadi, Mohammad; Dubois, Noémie; Sköldberg, Filip; Hallgren, Asa; Tardivel, Isabelle; Hedstrand, Håkan; Haavik, Jan; Husebye, Eystein S; Gustafsson, Jan; Rorsman, Fredrik; Meloni, Antonella; Janson, Christer; Vialettes, Bernard; Kajosaari, Merja; Egner, William; Sargur, Ravishankar; Pontén, Fredrik; Amoura, Zahir; Grimfeld, Alain; De Luca, Filippo; Betterle, Corrado; Perheentupa, Jaakko; Kämpe, Olle; Carel, Jean-Claude

    2009-03-17

    Patients with autoimmune polyendocrine syndrome type 1 (APS-1) suffer from multiple organ-specific autoimmunity with autoantibodies against target tissue-specific autoantigens. Endocrine and nonendocrine organs such as skin, hair follicles, and liver are targeted by the immune system. Despite sporadic observations of pulmonary symptoms among APS-1 patients, an autoimmune mechanism for pulmonary involvement has not been elucidated. We report here on a subset of APS-1 patients with respiratory symptoms. Eight patients with pulmonary involvement were identified. Severe airway obstruction was found in 4 patients, leading to death in 2. Immunoscreening of a cDNA library using serum samples from a patient with APS-1 and obstructive respiratory symptoms identified a putative potassium channel regulator (KCNRG) as a pulmonary autoantigen. Reactivity to recombinant KCNRG was assessed in 110 APS-1 patients by using immunoprecipitation. Autoantibodies to KCNRG were present in 7 of the 8 patients with respiratory symptoms, but in only 1 of 102 APS-1 patients without respiratory symptoms. Expression of KCNRG messenger RNA and protein was found to be predominantly restricted to the epithelial cells of terminal bronchioles. Autoantibodies to KCNRG, a protein mainly expressed in bronchial epithelium, are strongly associated with pulmonary involvement in APS-1. These findings may facilitate the recognition, diagnosis, characterization, and understanding of the pulmonary manifestations of APS-1.

  7. Hematologic features and clinical course of an infant with Pearson syndrome caused by a novel deletion of mitochondrial DNA.

    Science.gov (United States)

    Knerr, Ina; Metzler, Markus; Niemeyer, Charlotte Marie; Holter, Wolfgang; Gerecke, Anja; Baumann, Irith; Trollmann, Regina; Repp, Reinald

    2003-12-01

    Pearson bone marrow-pancreas syndrome (PS) is a rare, usually fatal mitochondrial disorder involving the hematopoietic system in early infancy. Due to the diversity of clinical symptoms, the diagnosis can be difficult. The authors describe a boy with severe hypoplastic anemia in whom extensive clinical, biochemical, and morphologic findings led to the diagnosis of PS, and molecular analysis revealed a novel deletion of mitochondrial DNA from nucleotide position 10.371 to 14.607. The patient is a 2-year-old boy who presented at age 5 months with hypoplastic macrocytic anemia. His first months of life and the family history were uneventful. Extensive pretransfusion evaluations did not reveal a metabolic, infectious, or hematologic-neoplastic etiology, and he had no evidence of exocrine pancreatic insufficiency. However, a second bone marrow aspirate at age 7 months showed a reduced cell number, vacuolated erythroblasts and myeloblasts, and ringed sideroblasts, so PS was suspected. Additional molecular analysis from the boy's blood leukocytes revealed a deletion of mitochondrial DNA from nucleotide position 10.371 to 14.607, which was absent in his mother's blood cells, consistent with a sporadic mutation as commonly seen in PS. The muscle histology and the respiratory chain enzymes were normal. Mitochondriopathies should be considered in children with persistent non-neuromuscular symptoms such as unexplained refractory anemia. Due to the often-fatal course of PS, the rapid detection of mitochondrial DNA deletions is imperative for diagnosis and family counseling.

  8. The relationship between the clinical features of idiopathic burning mouth syndrome and self-perceived quality of life.

    Science.gov (United States)

    Braud, Adeline; Boucher, Yves

    2016-01-01

    In this descriptive study, we investigated the relationship between the clinical characteristics of idiopathic burning mouth syndrome (iBMS) and the quality of life. Eighteen iBMS patients were interviewed about their experience with pain, oral-associated complaints, cognitive status, and self-perceived quality of life using the French versions of the Hospital Anxiety and Depression Scale (HADS) and the Global Oral Health Assessment Index (GOHAI). The Spearman coefficient was used to analyze correlations. The level of significance was fixed at P dry mouth (77.8%), tactile abnormalities (66.7%), thermal abnormalities (44.5%), and taste disturbances (38.9%). HAD-anxiety scores were higher than 10 in 38.8% of iBMS patients and HAD-depression scores were higher than 10 in 33.3% of patients. A significant correlation was found between the number of associated complaints and HAD-depression scores. The mean GOHAI-add score was 37.9 ± 9.6 (mean ± SD), and 94.5% of iBMS patients had a score lower than 50. GOHAI-add scores strongly correlated with pain intensity, which was calculated using a visual analog scale and duration of pain. Our findings indicate a strong correlation between iBMS-related pain and self-perceived oral health-related quality of life. In addition, a correlation was observed between iBMS-associated oral complaints and cognitive status.(J Oral Sci 58, 475-481, 2016).

  9. Nonalcoholic Fatty Liver Disease in Italian Children with Down Syndrome: Prevalence and Correlation with Obesity-Related Features.

    Science.gov (United States)

    Valentini, Diletta; Alisi, Anna; di Camillo, Chiara; Sartorelli, Maria Rita; Crudele, Annalisa; Bartuli, Andrea; Nobili, Valerio; Villani, Alberto

    2017-10-01

    To assess the prevalence of overweight/obesity in a cohort of Italian children with Down syndrome (DS) and to investigate the correlation of both obesity and DS with nonalcoholic fatty liver disease (NAFLD). We enrolled 280 children with DS (age range 5-18 years), who were referred to the DS outpatient clinic of the Bambino Gesù Children's Hospital in Rome. For all children, we collected the clinical history and measured anthropometric variables. Eighty-four of 280 children with DS were selected to undergo liver ultrasound scanning to evaluate the presence of NAFLD. Italian children with DS exhibited a prevalence of 19.64% for overweight and 12.14% for obesity. The prevalence of NAFLD in nonobese (45%) and overweight/obese (82%) children with DS is greater than in the European pediatric nonobese (5.7%) or obese population (33%). Moreover, the severity of liver brightness on ultrasound scan correlated positively with body mass index, triglycerides, low-density lipoprotein-cholesterol, and leptin levels and negatively with adiponectin. We demonstrated that, independently from the obese phenotype, children with DS display a greater risk to develop NAFLD than the general pediatric population. Copyright © 2017 Elsevier Inc. All rights reserved.

  10. SPECT imaging, clinical features, and cognition before and after low doses of amisulpride in schizophrenic patients with the deficit syndrome.

    Science.gov (United States)

    Vaiva, Guillaume; Thomas, Pierre; Llorca, Pierre Michel; Dupont, Sylvie; Cottencin, Olivier; Devos, Patrick; Mazas, Olivier; Rascle, Claire; Steinling, Marc; Goudemand, Michel

    2002-08-20

    The aim of the study was to examine the action of low-dose amisulpride (100 mg/d), an atypical antipsychotic from the benzamide class with a high affinity for the D2 and D3 dopamine receptors, given for 4 weeks in 19 schizophrenic patients with the deficit syndrome, in terms of clinical response, modifications in their cognitive performance and changes in brain perfusion values. A secondary objective was to distinguish between primary and secondary deficit, according to Carpenter's definition. Both efficacy and a relatively low rate of side effects of low-dose amisulpride in the deficit forms of schizophrenia were found as expected from earlier placebo-controlled studies. Our study found significant changes in the cerebral blood flow, before and after treatment, more marked in the frontal area and particularly in the dorso-lateral frontal area. A significant improvement of cognitive function was found after treatment, without a link to any particular changes in a loco-regional perfusion value. Finally, a distinction between primary and secondary deficit showed a higher percentage of clinical improvement in the patients with a secondary deficit. The psychometric and cerebral perfusion changes were no different in the two groups.

  11. Abdominal aortic calcification quantified by the Morphological Atherosclerotic Calcification Distribution (MACD index is associated with features of the metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Barascuk Natasha

    2011-12-01

    Full Text Available Abstract Background Abdominal aortic calcifications (AAC predict cardiovascular mortality. A new scoring model for AAC, the Morphological Atherosclerotic Calcification Distribution (MACD index may contribute with additional information to the commonly used Aortic Calcification Severity (AC24 score, when predicting death from cardiovascular disease (CVD. In this study we investigated associations of MACD and AC24 with traditional metabolic-syndrome associated risk factors at baseline and after 8.3 years follow-up, to identify biological parameters that may account for the differential performance of these indices. Methods Three hundred and eight healthy women aged 48 to 76 years, were followed for 8.3 ± 0.3 years. AAC was quantified using lumbar radiographs. Baseline data included age, weight, blood pressure, blood lipids, and glucose levels. Pearson correlation coefficients were used to test for relationships. Results At baseline and across all patients, MACD correlated with blood glucose (r2 = 0.1, P Conclusion Patterns of calcification identified by the MACD, but not the AC24 index, appear to contain useful biological information perhaps explaining part of the improved identification of risk of cardiovascular death of the MACD index. Correlations of MACD but not the AC24 with glucose levels at baseline suggest that hyperglycemia may contribute to unique patterns of calcification indicated by the MACD.

  12. Clinical features and molecular genetic analysis of a boy with Prader-Willi syndrome caused by an imprinting defect

    DEFF Research Database (Denmark)

    Schulze, A; Hansen, Claus; Baekgaard, P

    1997-01-01

    no recurrence has been reported. In rare cases, PWS is associated with lack of gene expression from the paternal allele due to an imprinting defect. We report the clinical features and the molecular genetic analysis of the first Danish child with PWS due to a defect of the putative imprinting centre (IC). When...... the imprinting mutation is inherited from a carrier father, the risk that future children will be affected is theoretically 50%. It is therefore important that these families are referred to a geneticist for counselling and further investigation. Prenatal diagnosis is currently only feasible when the mutation...

  13. Association between study design and citation counts of articles published in the American Journal of Orthodontics and Dentofacial Orthopedics and Angle Orthodontist.

    Science.gov (United States)

    Allareddy, Veerasathpurush; Lee, Min Kyeong; Shah, Andrea; Elangovan, Satheesh; Lin, Chin-Yu

    2012-01-01

    The scientific community views meta-analyses and systematic reviews, in addition to well-designed randomized controlled clinical trials, as the highest echelon in the continuum of hierarchy of evidence. The objective of this study was to examine the association between different study designs and citation counts of articles published in the American Journal of Orthodontics and Dentofacial Orthopedics and Angle Orthodontist. All articles, excluding editorial comments, letters to the editor, commentaries, and special articles, that were published in the American Journal of Orthodontics and Dentofacial Orthopedics and Angle Orthodontist during the years 2004 and 2005 were examined in this study. The number of times an article was cited in the first 24 months after its publication was computed. The PubMed database was used to index the study design of the articles. The association between study design and citation counts was examined using the Kruskal-Wallis test. A multivariable negative binomial regression model was used to examine the association between citation count and study design along with several other confounding variables. A total of 624 articles were selected for analysis. Of these, there were 25 meta-analyses or review articles, 42 randomized clinical trials, 59 clinical trials, 48 animal studies, 64 case reports, and 386 quasiexperimental/miscellaneous study designs. The mean ± SD citation count was 1.04 ± 1.46. Nearly half of the articles (n = 311) were not cited even once during the observation period. Case reports were cited less frequently than meta-analyses or reviews (incident risk ratio, 0.37; 95% confidence interval, 0.19 to 0.72; P = .003), even after adjusting for other independent variables. Among various study designs, meta-analyses and review articles are more likely to be cited in the first 24 months after publication. This study demonstrates the importance of publishing more meta-analyses and review articles for quicker dissemination of

  14. Selected clinical features of the head and neck in women with Turner syndrome and the 45,X/46,XY karyotype.

    Science.gov (United States)

    Frelich, Agnieszka; Frelich, Jakub; Jeż, Wacław; Irzyniec, Tomasz

    2017-01-01

    A 45,X/46,XY karyotype in women with Turner syndrome (TS) is very rare. The presence of a Y chromosome in the karyotype causes phenotypic differences and increased risk for neoplastic disease, compared to TS-women with other karyotypes. Our study addresses an issue: non-genital phenotypic differences between TS-patients with a Y-chromosome of their karyotype and TS-women without it. Results from patient history/physical examinations of the head and neck of eight TS-women and the 45,X/46,XY karyotype were compared with those observed in 164 TS-women and 30 controls. The heights of TS-groups: 142.5 ± 7.2 and 144.9 ± 7.2 cm were lower than controls (165.2 ± 6.6 cm). Participants were examined from 1995 to 2014. Among 28 study parameters, 15 were more frequently observed in TS women with the 45,X/46,XY karyotype compared to controls. Only abnormalities in the oral cavity and a history of childhood lymphoedema, differed significantly in the TS groups. With respect to the head and neck, the patient history and physical examination results of TS-women and the 45,X/46,XY karyotype and TS and other karyotypes revealed similar differences compared to controls. Compared to others TS patients, 45,X/46,XY individuals might more frequently have oral cavity soft tissue abnormalities and more rarely a history of childhood lymphoedema. (Endokrynol Pol 2017; 68 (1): 47-52).

  15. Pulmonary Neoplasms in Patients with Birt-Hogg-Dubé Syndrome: Histopathological Features and Genetic and Somatic Events.

    Directory of Open Access Journals (Sweden)

    Mitsuko Furuya

    Full Text Available Birt-Hogg-Dubé syndrome (BHD is an inherited disorder caused by genetic mutations in the folliculin (FLCN gene. Individuals with BHD have multiple pulmonary cysts and are at a high risk for developing renal cell carcinomas (RCCs. Currently, little information is available about whether pulmonary cysts are absolutely benign or if the lungs are at an increased risk for developing neoplasms. Herein, we describe 14 pulmonary neoplastic lesions in 7 patients with BHD. All patients were confirmed to have germline FLCN mutations. Neoplasm histologies included adenocarcinoma in situ (n = 2, minimally invasive adenocarcinoma (n = 1, papillary adenocarcinoma (n = 1, micropapillary adenocarcinoma (n = 1, atypical adenomatous hyperplasia (n = 8, and micronodular pneumocyte hyperplasia (MPH-like lesion (n = 1. Five of the six adenocarcinoma/MPH-like lesions (83.3% demonstrated a loss of heterozygosity (LOH of FLCN. All of these lesions lacked mutant alleles and preserved wild-type alleles. Three invasive adenocarcinomas possessed additional somatic events: 2 had a somatic mutation in the epidermal growth factor receptor gene (EGFR and another had a somatic mutation in KRAS. Immunohistochemical analysis revealed that most of the lesions were immunostained for phospho-mammalian target of rapamycin (p-mTOR and phospho-S6. Collective data indicated that pulmonary neoplasms of peripheral adenocarcinomatous lineage in BHD patients frequently exhibit LOH of FLCN with mTOR pathway signaling. Additional driver gene mutations were detected only in invasive cases, suggesting that FLCN LOH may be an underlying abnormality that cooperates with major driver gene mutations in the progression of pulmonary adenocarcinomas in BHD patients.

  16. Pulmonary Neoplasms in Patients with Birt-Hogg-Dubé Syndrome: Histopathological Features and Genetic and Somatic Events.

    Science.gov (United States)

    Furuya, Mitsuko; Tanaka, Reiko; Okudela, Koji; Nakamura, Satoko; Yoshioka, Hiromu; Tsuzuki, Toyonori; Shibuya, Ryo; Yatera, Kazuhiro; Shirasaki, Hiroki; Sudo, Yoshiko; Kimura, Naoko; Yamada, Kazuaki; Uematsu, Shugo; Kunimura, Toshiaki; Kato, Ikuma; Nakatani, Yukio

    2016-01-01

    Birt-Hogg-Dubé syndrome (BHD) is an inherited disorder caused by genetic mutations in the folliculin (FLCN) gene. Individuals with BHD have multiple pulmonary cysts and are at a high risk for developing renal cell carcinomas (RCCs). Currently, little information is available about whether pulmonary cysts are absolutely benign or if the lungs are at an increased risk for developing neoplasms. Herein, we describe 14 pulmonary neoplastic lesions in 7 patients with BHD. All patients were confirmed to have germline FLCN mutations. Neoplasm histologies included adenocarcinoma in situ (n = 2), minimally invasive adenocarcinoma (n = 1), papillary adenocarcinoma (n = 1), micropapillary adenocarcinoma (n = 1), atypical adenomatous hyperplasia (n = 8), and micronodular pneumocyte hyperplasia (MPH)-like lesion (n = 1). Five of the six adenocarcinoma/MPH-like lesions (83.3%) demonstrated a loss of heterozygosity (LOH) of FLCN. All of these lesions lacked mutant alleles and preserved wild-type alleles. Three invasive adenocarcinomas possessed additional somatic events: 2 had a somatic mutation in the epidermal growth factor receptor gene (EGFR) and another had a somatic mutation in KRAS. Immunohistochemical analysis revealed that most of the lesions were immunostained for phospho-mammalian target of rapamycin (p-mTOR) and phospho-S6. Collective data indicated that pulmonary neoplasms of peripheral adenocarcinomatous lineage in BHD patients frequently exhibit LOH of FLCN with mTOR pathway signaling. Additional driver gene mutations were detected only in invasive cases, suggesting that FLCN LOH may be an underlying abnormality that cooperates with major driver gene mutations in the progression of pulmonary adenocarcinomas in BHD patients.

  17. Ultrasound features of polycystic ovaries relate to degree of reproductive and metabolic disturbance in polycystic ovary syndrome.

    Science.gov (United States)

    Christ, Jacob P; Vanden Brink, Heidi; Brooks, Eric D; Pierson, Roger A; Chizen, Donna R; Lujan, Marla E

    2015-03-01

    To reexamine associations between polycystic ovarian morphology (PCOM) and degree of symptomatology in polycystic ovary syndrome (PCOS) using a well-defined PCOS population, newer ultrasound technology, and reliable offline assessments of sonographic parameters. Cross-sectional observational study. Academic hospital and clinical research unit. Forty-nine women with PCOS as defined by hyperandrogenism and oligoamenorrhea. None. Number of follicles per follicle size category, antral follicle count (AFC), ovarian volume (OV), follicle distribution pattern, stromal area, ovarian area, stromal to ovarian area ratio (S/A) and stromal echogenicity index (SI), total (TT), androstenedione, LH, FSH, cholesterol, triglycerides, low-density lipoprotein, high-density lipoprotein, C-reactive protein, glucose, insulin, and hemoglobin A1C, menstrual cycle length, hirsutism score, body mass index (BMI), waist:hip ratio, and blood pressure. AFC, but not OV, was positively associated with TT (ρ = .610), androstenedione (ρ = .490), and LH:FSH (ρ = .402). SI was positively associated with androgen markers and LH:FSH, while S/A was negatively associated with these variables. Follicles ≤4 mm were negatively associated with various metabolic markers, whereas larger follicles (5-8 mm) showed positive associations. Stromal markers were not associated with cardiometabolic measures. LH:FSH best predicted follicles ≤4 mm, and BMI predicted 5- to 9-mm follicles. Dominant follicles ≥10 mm were best predicted by age. AFC, and not OV, reflected the severity of reproductive dysfunction in PCOS. Associations among different sized follicles were consistent with recruitable sized follicles, which reflects the severity of metabolic dysfunction in PCOS. Copyright © 2015 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  18. Polymorphism in the MHC2TA gene is associated with features of the metabolic syndrome and cardiovascular mortality.

    Directory of Open Access Journals (Sweden)

    Eero Lindholm

    Full Text Available BACKGROUND: Recently, a -168A-->G polymorphism in the MHC class II transactivator gene (MHC2TA was shown to be associated with increased susceptibility to myocardial infarction (MI. AIM: To confirm the association between the MHC2TA -168A-->G polymorphism and MI and to study its putative role for microalbuminuria, the metabolic syndrome (MetS and cardiovascular mortality. MATERIALS AND METHODS: Using an allelic discrimination method we genotyped 11,064 individuals from three study populations: 1 4,432 individuals from the Botnia type 2 diabetes (T2D study, 2 1,222 patients with MI and 2,345 control subjects participating in the Malmö Diet and Cancer study and comprising an MI case-control sample, and 3 3,065 T2D patients from the Local Swedish Diabetes registry. RESULTS: No association between the -168A-->G polymorphism in MHC2TA and MI was observed. However, in the Botnia cohort the AG/GG genotypes were associated with cardiovascular mortality after MI (1.78 [1.09-2.92], p = 0.02. In addition, the AG/GG genotypes were more common in subjects with MetS (40.1% vs. 36.9%, p = 0.03 and in non-diabetic subjects with microalbuminuria (45.4% vs. 36.5%, p = 0.003 compared to control subjects. CONCLUSIONS: A polymorphism in MHC2TA was associated with cardiovascular mortality and predictors of cardiovascular mortality, microalbuminuria and MetS.

  19. Os trigonum tarsi syndrome. Magnetic Resonance features; Sindrome dell'os trigonum tarsi. Ruolo della Risonanza Magnetica

    Energy Technology Data Exchange (ETDEWEB)

    Iovane, A.; Finazzo, M.; Carcione, A.; De Maria, M; Lagalla, R. [Palermo Policlinico Univ. P. Giaccone, Palermo (Italy). Ist. di Radiologia; Midiri, M. [Bari Policlinico Univ., Bari (Italy). Ist. di Radiologia

    2000-02-01

    The os trigonum tarsi is an accessory bone of the foot localized posterolateral to the lateral tubercle of talus. It is usually an asymptomatic condition. However, particular activities such as ballet, soccer, of football may cause repeated stress and chronic microtraumas to the hindfoot, resulting in the os trigonum syndrome. Pain is typically localized anterior to the Achilles tendon; nevertheless, diagnosis may be very difficult because other conditions may show the same symptoms. Radiography can only demonstrate the os trigonum and its morpho structural changes, while MR (Magnetic Resonance) imaging can also depict associated soft tissue damage. It is reported on 9 cases of os trigonum tarsi syndrome studied with MR imaging. Nine patients with the os trigonum syndrome were submitted to MRI. All the examinations were performed with the patients in supine recumbency with the injured foot in neutral position and then in forced plantar flexion. Axial and sagittal T1 SE, T2* GE and FIR images were acquired. It was evaluated os trigonum location and shape, signal intensity of bone, cartilages and adjacent soft tissues, and possible associated tendon injuries. No changes were found in the os trigonum location and shape. Signal intensity changes were seen in 2/9 cases. Disruption of the cartilaginous synchondrosis between the accessory navicular bone and the posterior tibial aspect was observed in 7/9 patients. Tenosynovitis of the flexor hallucis longus was associated in 6/9 patients. Pseudoarthrosis with irregular bone margins and high-signal spots within the cartilage was found in 3 cases. MR imaging allows complete morpho structural assessment because it depicts the margins and the signal intensity of bone and ligaments on the 3 spatial planes. Particularly, sagittal T2 images best demonstrate the cartilage changes indicating synchondrosis disruption. This condition may cause abnormal mobility of the accessory bone with possible impingement with the posterior

  20. Evaluation of Mayer-Rokitansky-Kuester-Hauser syndrome with magnetic resonance imaging: Three patterns of uterine remnants and related anatomical features and clinical settings

    Energy Technology Data Exchange (ETDEWEB)

    Wang, Yue; Lu, Jingjing; Jiang, Bo; Feng, Feng; Jin, Zhengyu [Peking Union Medical College, Chinese Academy of Medical Sciences, Department of Radiology, Peking Union Medical College Hospital, Beijing (China); Zhu, Lan; Sun, Zhijing [Chinese Academy of Medical Sciences, Department of Obstetrics and Gynaecology, Peking Union Medical College Hospital, Peking Union Medical College, Bejing (China)

    2017-12-15

    To characterize the anatomical features and clinical settings of Mayer-Rokitansky-Kuester-Hauser (MRKH) syndrome and correlate them with patterns of uterine involvement. Pelvic magnetic resonance images and medical records of 92 MRKH patients were retrospectively reviewed. Patients were subgrouped by uterine morphology: uterine agenesis, unilateral rudimentary uterus and bilateral rudimentary uteri. Uterine volume, presence of endometrium, location of ovary, endometriosis and pelvic pain were compared among groups. The mean uterine volume was 33.5 ml (17.5-90.0 ml) for unilateral uterine remnants, and 16.1 ml (3.5-21.5 ml) for bilateral uterine rudiments (p<0.01). The incidence of presence of endometrium (100% vs. 22%, p<0.001), haematometra (56% vs. 3%, p<0.001) and ovarian endometriosis (22% vs. 3%, p<0.01) was significantly increased in the group of unilateral rudimentary uteri as compared with the group of bilateral uterine remnants. Thirty-one patients (38%) showed ectopic ovaries. Pelvic pain was more common in individuals with unilateral rudimentary uterus than those who had no (56% vs. 5%, p<0.01) or bilateral uterine remnants (56% vs. 14%, p<0.05). MRKH patients with different patterns of uterine involvement may have differentiated anatomical features and clinical settings. (orig.)

  1. Variable developmental delays and characteristic facial features-A novel 7p22.3p22.2 microdeletion syndrome?

    Science.gov (United States)

    Yu, Andrea C; Zambrano, Regina M; Cristian, Ingrid; Price, Sue; Bernhard, Birgitta; Zucker, Marc; Venkateswaran, Sunita; McGowan-Jordan, Jean; Armour, Christine M

    2017-06-01

    Isolated 7p22.3p22.2 deletions are rarely described with only two reports in the literature. Most other reported cases either involve a much larger region of the 7p arm or have an additional copy number variation. Here, we report five patients with overlapping microdeletions at 7p22.3p22.2. The patients presented with variable developmental delays, exhibiting relative weaknesses in expressive language skills and relative strengths in gross, and fine motor skills. The most consistent facial features seen in these patients included a broad nasal root, a prominent forehead a prominent glabella and arched eyebrows. Additional variable features amongst the patients included microcephaly, metopic ridging or craniosynostosis, cleft palate, cardiac defects, and mild hypotonia. Although the patients' deletions varied in size, there was a 0.47 Mb region of overlap which contained 7 OMIM genes: EIP3B, CHST12, LFNG, BRAT1, TTYH3, AMZ1, and GNA12. We propose that monosomy of this region represents a novel microdeletion syndrome. We recommend that individuals with 7p22.3p22.2 deletions should receive a developmental assessment and a thorough cardiac exam, with consideration of an echocardiogram, as part of their initial evaluation. © 2017 Wiley Periodicals, Inc.

  2. Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome.

    Science.gov (United States)

    Vieira, Gustavo H; Rodriguez, Jayson D; Carmona-Mora, Paulina; Cao, Lei; Gamba, Bruno F; Carvalho, Daniel R; de Rezende Duarte, Andréa; Santos, Suely R; de Souza, Deise H; DuPont, Barbara R; Walz, Katherina; Moretti-Ferreira, Danilo; Srivastava, Anand K

    2012-02-01

    Smith-Magenis syndrome (SMS) is a complex disorder whose clinical features include mild to severe intellectual disability with speech delay, growth failure, brachycephaly, flat midface, short broad hands, and behavioral problems. SMS is typically caused by a large deletion on 17p11.2 that encompasses multiple genes including the retinoic acid induced 1, RAI1, gene or a mutation in the RAI1 gene. Here we have evaluated 30 patients with suspected SMS and identified SMS-associated classical 17p11.2 deletions in six patients, an atypical deletion of ~139 kb that partially deletes the RAI1 gene in one patient, and RAI1 gene nonsynonymous alterations of unknown significance in two unrelated patients. The RAI1 mutant proteins showed no significant alterations in molecular weight, subcellular localization and transcriptional activity. Clinical features of patients with or without 17p11.2 deletions and mutations involving the RAI1 gene were compared to identify phenotypes that may be useful in diagnosing patients with SMS.

  3. Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features

    DEFF Research Database (Denmark)

    Santiago-Sim, Teresa; Burrage, Lindsay C; Ebstein, Frédéric

    2017-01-01

    Ubiquitination is a posttranslational modification that regulates many cellular processes including protein degradation, intracellular trafficking, cell signaling, and protein-protein interactions. Deubiquitinating enzymes (DUBs), which reverse the process of ubiquitination, are important...... including congenital heart disease, and musculoskeletal features. Homozygous Otud6b knockout mice were subviable, smaller in size, and had congenital heart defects, consistent with the severity of loss-of-function variants in humans. Analysis of peripheral blood mononuclear cells from an affected subject...... showed reduced incorporation of 19S subunits into 26S proteasomes, decreased chymotrypsin-like activity, and accumulation of ubiquitin-protein conjugates. Our findings suggest a role for OTUD6B in proteasome function, establish that defective OTUD6B function underlies a multisystemic human disorder...

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

    DEFF Research Database (Denmark)

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

    month of life. However, 5% suffer from severe and prolonged hypoglycemia necessitating intensive medical treatment, and a small number of these patients need a near-total pancreatectomy. Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in newborns, most frequently...... and glucagon, necessitating 95% pancreatectomy at 20 days of age. The patient also had an abdominal wall defect, hemihypertrophy and visceromegaly. Today, at the age of four years, she only needs a small dosage of diazoxide.Results: A preoperative F-18-DOPA PET/CT scan showed diffuse uptake of the radiotracer......, a focus of pancreatoblastoma measuring 3x1 mm was noted. Discussion and conclusion: In this report of premature neonate with severe CHI due to BWS requiring near-total pancreatectomy, we found diffuse adenomatous hyperplasia of endocrine cells. These microscopic features differ from the focal, diffuse...

  5. Pedunculated uterine leiomyoma associated with pseudo-Meigs' syndrome and elevated CA-125 level: CT features

    Energy Technology Data Exchange (ETDEWEB)

    Kebapci, Mahmut; Aslan, Ozgur; Kaya, Tamer [Department of Radiology, Osmangazi University School of Medicine, Meselik, 26480 Eskisehir (Turkey); Yalcin, Omer T.; Ozalp, Sinan [Department of Obstetrics and Gynecology, Osmangazi University School of Medicine, Meselik, 26480 Eskisehir (Turkey)

    2002-07-01

    A 38-year-old woman presented with a 1-week history of low back pain, distension, weakness, and loss of appetite. Laboratory studies showed a serum CA-125 level of 281 U/ml (normal value 1.2-32 U/ml). Abdominopelvic sonography revealed massive ascites, left pleural effusion, and a heterogeneous, hypoechogenic, and smoothly outlined solid mass. The mass had a close proximity and to the anterior side of the right ovary. Doppler sonography showed that the mass was hypervascularized. Computed tomography demonstrated numerous, tortuous vascular structures around the mass and along the omentum indicating its auxiliary vascularization from the omentum. Exploratory laparotomy and histopathological examination revealed pedunculated leiomyoma with parasitized blood supply from the omentum. Ascites and pleural effusion disappeared 6 months after surgery. We present the clinical and CT features of a parasitic leiomyoma adhering to the omentum. (orig.)

  6. Clinical features and serum biomarkers in HIV immune reconstitution inflammatory syndrome after cryptococcal meningitis: a prospective cohort study.

    Science.gov (United States)

    Boulware, David R; Meya, David B; Bergemann, Tracy L; Wiesner, Darin L; Rhein, Joshua; Musubire, Abdu; Lee, Sarah J; Kambugu, Andrew; Janoff, Edward N; Bohjanen, Paul R

    2010-12-21

    Although antiretroviral therapy (ART) improves survival in persons with cryptococcal meningitis (CM) and AIDS, ART frequently elicits HIV immune reconstitution inflammatory syndrome (IRIS), an exaggerated and frequently deadly inflammatory reaction that complicates recovery from immunodeficiency. The pathogenesis of IRIS is poorly understood and prediction of IRIS is not possible. We prospectively followed 101 ART-naïve Ugandans with AIDS and recent CM for one year after initiating ART, and used Luminex multiplex assays to compare serum cytokine levels in participants who did or did not develop IRIS. IRIS occurred in 45% of participants with recent CM on ART, including 30% with central nervous system (CNS) manifestations. The median time to CM-IRIS was 8.8 wk on ART. Overall mortality on ART was 36% with IRIS and 21% without IRIS. CM-IRIS was independently associated with death (HR = 2.3, 95% CI 1.1-5.1, p = 0.04). Patients experiencing subsequent CM-IRIS had 4-fold higher median serum cryptococcal antigen (CRAG) levels pre-ART (p = 0.006). Higher pre-ART levels of interleukin (IL)-4 and IL-17 as well as lower tumor necrosis factor (TNF)-α, granulocyte colony-stimulating factor (G-CSF), granulocyte-macrophage colony-stimulating factor (GM-CSF), and vascular endothelial growth factor (VEGF) predicted future IRIS in multivariate analyses (area under the curve [AUC] = 0.82). An algorithm based on seven pre-ART serum biomarkers was a robust tool for stratifying high (83%), moderate (48%), and low risk (23%) for IRIS in the cohort. After ART was initiated, increasing levels of C-reactive protein (CRP), D-dimer, IL-6, IL-7, IL-13, G-CSF, or IL-1RA were associated with increasing hazard of IRIS by time-to-event analysis (each p≤0.001). At the time of IRIS onset, multiple proinflammatory cytokine responses were present, including CRP and IL-6. Mortality was predicted by pre-ART increasing IL-17, decreasing GM-CSF, and CRP level >32 mg/l (highest quartile). Pre-ART CRP

  7. Comparison of clinical features and health manifestations in lean vs. obese Indian women with polycystic ovarian syndrome

    Directory of Open Access Journals (Sweden)

    Abha Majumdar

    2009-01-01

    Full Text Available Aims: To study the prevalence of clinical manifestations in obese and lean polycystic ovarian syndrome (PCOS women and their health hazards. Settings and Design: This prospective study was carried out in a tertiary care infertility clinic from 1.7.2005 till 31.12.2007. Materials and Methods: These women were diagnosed to have PCOS by the European Society of Human Reproduction and Embryology and the American Society of Reproductive Medicine, Rotterdam 2003 criteria. They were further divided into two groups according to their body mass index (BMI: Group A (n = 300, overweight and obese with BMI> 23 and Group B (n = 150, normal weight and lean with BMI ≤23. Stastical Analysis and Results: The prevalence of menstrual irregularities [79.2% vs. 44%, P = 0.000, 95% confidence interval (CI = 0.26-0.44] and clinical hyperandrogenism (74.2% vs. 50.6%, P = 0.000, 95% CI=0.14-0.32 was signifi cantly higher in the obese group, whereas android central obesity (waist to hip ratio> 0.85 was similar in both groups, irrespective of body weight (47.7% vs. 38%, P = 0.056, 95% CI=0.06 to +0.18. Comparative data of various health manifestations in lean vs. obese women with POCS [Table 4]. Of the health risk manifestations, hypertension occurred in both groups with a similar frequency (41% vs. 35.5%, P = 0.261, 95% CI=0.03 to +0.15. Group A showed an increased prevalence of IGT (25% vs. 10%, P = 0.000, 95% CI= 0.13-0.29 and type two diabetes mellitus (11.7% vs. 6%, P = 0.000, 95% CI= 0.13-0.29 as compared with group B. endometrial hyperplasia (EH also showed an increase prevalence in Group A compared with Group B (5.6% vs. 2%, P = 0.055, 95% CI= 0.01-0.08, although not statistically significant. Conclusion: PCOS emerges as a clinically heterogeneous condition with increased prevalence of health risks such as hypertension, diabetes and EH. Of these, diabetes and EH appear to be more prevalent in the obese, putting them at a greater risk of morbid problems at a much

  8. Pretreatment Features to Influence Effectiveness of Intravesical Hyaluronic Acid Instillation in Refractory Interstitial Cystitis/Painful Bladder Syndrome

    Science.gov (United States)

    Kim, Aram; Lim, Bumjin; Song, Miho

    2014-01-01

    Purpose To determine the efficacy of intravesical hyaluronic acid (HA) instillation in treating patients with refractory interstitial cystitis/painful bladder syndrome (IC/PBS) and to identify any related factors that influence its therapeutic effect. Methods Thirty-three female IC/PBS patients who demonstrated poor or unsatisfactory responses to previous treatments between December 2010 and October 2012 were enrolled. Despite previous treatments, the enrolled patients had visual analogue scale (VAS) pain scores ≥4 and total scores (symptom and bother scores) ≥13 on the pelvic pain and urgency/frequency (PUF) questionnaire and ≥12 on the O'Leary-Sant interstitial cystitis symptoms index (ICSI)/problems index (ICPI). All patients received once weekly intravesical instillations of 40-mg HA diluted in 50-mL saline for 4 weeks. The efficacy of the HA instillation was evaluated by comparing the mean changes in the scores of the VAS and questionnaires from baseline to 4 weeks after treatment. Improvement was defined as a ≥2 decrease in the VAS. Moreover, we investigated the effects of the presence of Hunner's ulcer and previous treatment modalities on the therapeutic outcome of HA instillation. Results The mean age was 57.0±1.8 years (range, 28-75 years). The VAS score significantly decreased from baseline to 4 weeks after treatment (-2.5, P<0.001). The mean changes in the PUF, ICSI, and ICPI from baseline to 4 weeks after the treatment were -3.8 (P<0.001), -2.3 (P<0.001), and -2.7 (P<0.001), respectively. Twenty patients (61%) showed improvements. Previous treatment modalities did not affect the efficacy of HA instillation and the presence of Hunner's ulcer was unrelated to outcomes. No complications were observed. Conclusions These results show that intravesical HA instillation is an effective and safe treatment for patients with refractory IC/PBS. Previous treatment modalities and presence of Hunner's ulcer do not affect the efficacy of HA instillation. PMID

  9. Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

    Science.gov (United States)

    Kaiser, Frank J.; Ansari, Morad; Braunholz, Diana; Concepción Gil-Rodríguez, María; Decroos, Christophe; Wilde, Jonathan J.; Fincher, Christopher T.; Kaur, Maninder; Bando, Masashige; Amor, David J.; Atwal, Paldeep S.; Bahlo, Melanie; Bowman, Christine M.; Bradley, Jacquelyn J.; Brunner, Han G.; Clark, Dinah; Del Campo, Miguel; Di Donato, Nataliya; Diakumis, Peter; Dubbs, Holly; Dyment, David A.; Eckhold, Juliane; Ernst, Sarah; Ferreira, Jose C.; Francey, Lauren J.; Gehlken, Ulrike; Guillén-Navarro, Encarna; Gyftodimou, Yolanda; Hall, Bryan D.; Hennekam, Raoul; Hudgins, Louanne; Hullings, Melanie; Hunter, Jennifer M.; Yntema, Helger; Innes, A. Micheil; Kline, Antonie D.; Krumina, Zita; Lee, Hane; Leppig, Kathleen; Lynch, Sally Ann; Mallozzi, Mark B.; Mannini, Linda; Mckee, Shane; Mehta, Sarju G.; Micule, Ieva; Mohammed, Shehla; Moran, Ellen; Mortier, Geert R.; Moser, Joe-Ann S.; Noon, Sarah E.; Nozaki, Naohito; Nunes, Luis; Pappas, John G.; Penney, Lynette S.; Pérez-Aytés, Antonio; Petersen, Michael B.; Puisac, Beatriz; Revencu, Nicole; Roeder, Elizabeth; Saitta, Sulagna; Scheuerle, Angela E.; Schindeler, Karen L.; Siu, Victoria M.; Stark, Zornitza; Strom, Samuel P.; Thiese, Heidi; Vater, Inga; Willems, Patrick; Williamson, Kathleen; Wilson, Louise C.; Hakonarson, Hakon; Quintero-Rivera, Fabiola; Wierzba, Jolanta; Musio, Antonio; Gillessen-Kaesbach, Gabriele; Ramos, Feliciano J.; Jackson, Laird G.; Shirahige, Katsuhiko; Pié, Juan; Christianson, David W.; Krantz, Ian D.; Fitzpatrick, David R.; Deardorff, Matthew A.

    2014-01-01

    Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder with distinct facies, growth failure, intellectual disability, distal limb anomalies, gastrointestinal and neurological disease. Mutations in NIPBL, encoding a cohesin regulatory protein, account for >80% of cases with typical facies. Mutations in the core cohesin complex proteins, encoded by the SMC1A, SMC3 and RAD21 genes, together account for ∼5% of subjects, often with atypical CdLS features. Recently, we identified mutations in the X-linked gene HDAC8 as the cause of a small number of CdLS cases. Here, we report a cohort of 38 individuals with an emerging spectrum of features caused by HDAC8 mutations. For several individuals, the diagnosis of CdLS was not considered prior to genomic testing. Most mutations identified are missense and de novo. Many cases are heterozygous females, each with marked skewing of X-inactivation in peripheral blood DNA. We also identified eight hemizygous males who are more severely affected. The craniofacial appearance caused by HDAC8 mutations overlaps that of typical CdLS but often displays delayed anterior fontanelle closure, ocular hypertelorism, hooding of the eyelids, a broader nose and dental anomalies, which may be useful discriminating features. HDAC8 encodes the lysine deacetylase for the cohesin subunit SMC3 and analysis of the functional consequences of the missense mutations indicates that all cause a loss of enzymatic function. These data demonstrate that loss-of-function mutations in HDAC8 cause a range of overlapping human developmental phenotypes, including a phenotypically distinct subgroup of CdLS. PMID:24403048

  10. Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of Genitopatellar syndrome.

    NARCIS (Netherlands)

    Schlaubitz, S.; Yatsenko, S.A.; Smith, L.D.; Keller, K.L.; Vissers, L.E.L.M.; Scott, D.A.; Cai, W.W.; Reardon, W.; Abdul-Rahman, O.A.; Lammer, E.J.; Lifchez, C.A.; Magenis, E.; Veltman, J.A.; Stankiewicz, P.; Zabel, B.U.; Lee, B.

    2007-01-01

    We describe our findings in a 46,XY female with a clinical features of Genitopatellar syndrome (GPS) and confirmed hermaphroditism with ovotestes, and five additional patients with GPS. GPS is a genetic disorder characterized by renal and genital anomalies, joint dislocation, aplastic or hypoplastic

  11. Clinical features and serum biomarkers in HIV immune reconstitution inflammatory syndrome after cryptococcal meningitis: a prospective cohort study.

    Directory of Open Access Journals (Sweden)

    David R Boulware

    2010-12-01

    Full Text Available Although antiretroviral therapy (ART improves survival in persons with cryptococcal meningitis (CM and AIDS, ART frequently elicits HIV immune reconstitution inflammatory syndrome (IRIS, an exaggerated and frequently deadly inflammatory reaction that complicates recovery from immunodeficiency. The pathogenesis of IRIS is poorly understood and prediction of IRIS is not possible.We prospectively followed 101 ART-naïve Ugandans with AIDS and recent CM for one year after initiating ART, and used Luminex multiplex assays to compare serum cytokine levels in participants who did or did not develop IRIS. IRIS occurred in 45% of participants with recent CM on ART, including 30% with central nervous system (CNS manifestations. The median time to CM-IRIS was 8.8 wk on ART. Overall mortality on ART was 36% with IRIS and 21% without IRIS. CM-IRIS was independently associated with death (HR = 2.3, 95% CI 1.1-5.1, p = 0.04. Patients experiencing subsequent CM-IRIS had 4-fold higher median serum cryptococcal antigen (CRAG levels pre-ART (p = 0.006. Higher pre-ART levels of interleukin (IL-4 and IL-17 as well as lower tumor necrosis factor (TNF-α, granulocyte colony-stimulating factor (G-CSF, granulocyte-macrophage colony-stimulating factor (GM-CSF, and vascular endothelial growth factor (VEGF predicted future IRIS in multivariate analyses (area under the curve [AUC] = 0.82. An algorithm based on seven pre-ART serum biomarkers was a robust tool for stratifying high (83%, moderate (48%, and low risk (23% for IRIS in the cohort. After ART was initiated, increasing levels of C-reactive protein (CRP, D-dimer, IL-6, IL-7, IL-13, G-CSF, or IL-1RA were associated with increasing hazard of IRIS by time-to-event analysis (each p≤0.001. At the time of IRIS onset, multiple proinflammatory cytokine responses were present, including CRP and IL-6. Mortality was predicted by pre-ART increasing IL-17, decreasing GM-CSF, and CRP level >32 mg/l (highest quartile. Pre-ART CRP

  12. Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome.

    Science.gov (United States)

    Hempel, Annmarie; Pagnamenta, Alistair T; Blyth, Moira; Mansour, Sahar; McConnell, Vivienne; Kou, Ikuyo; Ikegawa, Shiro; Tsurusaki, Yoshinori; Matsumoto, Naomichi; Lo-Castro, Adriana; Plessis, Ghislaine; Albrecht, Beate; Battaglia, Agatino; Taylor, Jenny C; Howard, Malcolm F; Keays, David; Sohal, Aman Singh; Kühl, Susanne J; Kini, Usha; McNeill, Alisdair

    2016-03-01

    SOX11 is a transcription factor proposed to play a role in brain development. The relevance of SOX11 to human developmental disorders was suggested by a recent report of SOX11 mutations in two patients with Coffin-Siris syndrome. Here we further investigate the role of SOX11 variants in neurodevelopmental disorders. We used array based comparative genomic hybridisation and trio exome sequencing to identify children with intellectual disability who have deletions or de novo point mutations disrupting SOX11. The pathogenicity of the SOX11 mutations was assessed using an in vitro gene expression reporter system. Loss-of-function experiments were performed in xenopus by knockdown of Sox11 expression. We identified seven individuals with chromosome 2p25 deletions involving SOX11. Trio exome sequencing identified three de novo SOX11 variants, two missense (p.K50N; p.P120H) and one nonsense (p.C29*). The biological consequences of the missense mutations were assessed using an in vitro gene expression system. These individuals had microcephaly, developmental delay and shared dysmorphic features compatible with mild Coffin-Siris syndrome. To further investigate the function of SOX11, we knocked down the orthologous gene in xenopus. Morphants had significant reduction in head size compared with controls. This suggests that SOX11 loss of function can be associated with microcephaly. We thus propose that SOX11 deletion or mutation can present with a Coffin-Siris phenotype. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  13. New or presumably new left bundle branch block in patients with suspected acute coronary syndrome: Clinical, echocardiographic, and electrocardiographic features from a single-center registry.

    Science.gov (United States)

    Hanna, Elias B; Lathia, Viral N; Ali, Murtuza; Deschamps, Eliana Hanna

    2015-01-01

    In patients with suspected acute coronary syndrome, a new or presumably new left bundle branch block (LBBB) does not always imply ST-segment elevation myocardial infarction (STEMI). We aimed to show the low frequency of STEMI-equivalent in this population and determine the diagnostic value of electrocardiographic and echocardiographic features. From the 387 patients captured by the Louisiana State University code STEMI registry between 2009 and 2012, we examined data on 26 patients with LBBB. These patients were divided into 3 groups according to the final diagnosis: (1) STEMI-equivalent, defined as an acute coronary occlusion on angiography (2 patients), (2) non-ST-segment elevation myocardial infarction (4 patients), and (3) diagnoses other than myocardial infarction (non-MI) (20 patients). Troponin elevation and left ventricular systolic dysfunction were common in all 3 groups (non-significant p-values). Compared with non-MI patients, patients with STEMI-equivalent had a larger degree of ST-segment discordance and T-wave discordance, as assessed by ST/QRS and T/QRS ratios (pdiagnosis of STEMI-equivalent in the setting of LBBB. Conversely, absolute values of ST-segment and T-wave discordance were not significantly different between groups. ST-segment concordance was highly specific for the diagnosis of STEMI-equivalent, but had a limited sensitivity. Only a minority of patients with suspected acute coronary syndrome and LBBB have a STEMI-equivalent. Excessive relative discordance of the ST segment or the T wave appears predictive of STEMI-equivalent, but this is only hypothesis-generating considering the small population size. Copyright © 2015 Elsevier Inc. All rights reserved.

  14. Clinical and audiological features of a syndrome with deterioration in speech recognition out of proportion to pure hearing loss

    Directory of Open Access Journals (Sweden)

    Abdi S

    2007-04-01

    Full Text Available Background: The objective of this study was to describe the audiologic and related characteristics of a group patient with speech perception affected out of proportion to pure tone hearing loss. A case series of patient were referred for evaluation and management to the Hearing Research Center.To describe the clinical picture of the patients with the key clinical feature of hearing loss for pure tones and reduction in speech discrimination out of proportion to the pure tone loss, having some of the criteria of auditory neuropathy (i.e. normal otoacoustic emissions, OAE, and abnormal auditory brainstem evoked potentials, ABR and lacking others (e.g. present auditory reflexes. Methods: Hearing abilities were measured by Pure Tone Audiometry (PTA and Speech Discrimination Scores (SDS, measured in all patients using a standardized list of 25 monosyllabic Farsi words at MCL in quiet. Auditory pathway integrity was measured by using Auditory Brainstem Response (ABR and Otoacoustic Emission (OAE and anatomical lesions Computed Tomography Scan (CT and Magnetic Resonance Image (MRI of brain and retrocochlea. Patient included in the series were 35 patients who have SDS disproportionably low with regard to PTA, absent ABR waves and normal OAE. Results: All patients reported the beginning of their problem around adolescence. Neither of them had anatomical lesion in imaging studies and neither of them had any finding suggestive of conductive hearing lesion. Although in most of the cases the hearing loss had been more apparent in the lower frequencies (i.e. 1000 Hz and less, a stronger correlation was found between SDS and hearing threshold at higher frequencies. These patients may not benefit from hearing aids, as the outer hair cells are functional and amplification doesn’t seem to help; though, it was tried for all. Conclusion: These patients share a pattern of sensory –neural loss with no detectable lesion. The age of onset and the gradual

  15. Revesz syndrome

    Directory of Open Access Journals (Sweden)

    Dayane Cristine Issaho

    2015-04-01

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

  16. Gorlin syndrome

    Directory of Open Access Journals (Sweden)

    Basanti Devi

    2013-01-01

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

  17. Clinical Features and Outcomes of Patients With Symptomatic Kaposi Sarcoma Herpesvirus (KSHV)-associated Inflammation: Prospective Characterization of KSHV Inflammatory Cytokine Syndrome (KICS).

    Science.gov (United States)

    Polizzotto, Mark N; Uldrick, Thomas S; Wyvill, Kathleen M; Aleman, Karen; Marshall, Vickie; Wang, Victoria; Whitby, Denise; Pittaluga, Stefania; Jaffe, Elaine S; Millo, Corina; Tosato, Giovanna; Little, Richard F; Steinberg, Seth M; Sereti, Irini; Yarchoan, Robert

    2016-03-15

    Kaposi sarcoma herpesvirus (KSHV) is the cause of Kaposi sarcoma (KS), primary effusion lymphoma (PEL), and a form of Castleman disease (KSHV-MCD). Recently a KSHV-associated inflammatory cytokine syndrome (KICS) distinct from KSHV-MCD was reported. We prospectively characterized the clinical, laboratory, virologic and immunologic features of KICS by evaluating symptomatic adults with KSHV using a prespecified definition. These features and overall survival were compared with controls from 2 prospectively characterized human immunodeficiency virus (HIV)-infected cohorts, including 1 with KSHV coinfection. All 10 KICS subjects were HIV infected males; 5 had HIV viral load (VL) suppressed <50 copies mL (median 72, range <50-74 375); all had KS and 2 also had PEL. All had multiple severe symptoms attributable to KICS: median number of symptoms 8 (6-11), median grade of worst symptom 3 (2-4). These included gastrointestinal disturbance (present in 9); edema (9); respiratory (6); and effusions (5). Laboratory abnormalities included anemia (all); hypoalbuminemia (all) and thrombocytopenia (6). None developed KSHV-MCD; 6 died with median survival from KICS diagnosis 13.6 months. KICS subjects compared with controls had more severe symptoms; lower hemoglobin and albumin; higher C-reactive protein; higher KSHV VL; elevated interleukin (IL)-6 and IL-10; and an increased risk of death (all P < .05). Anemia and hypoalbuminemia at presentation were independently associated with early death. KICS subjects demonstrated diverse severe symptoms, a high rate of KSHV-associated tumors, high mortality, and a distinct IL-6/IL-10 signature. KICS may be an important unrecognized cause of morbidity and mortality, including symptoms previously ascribed to HIV. Exploration of KSHV-directed therapy is warranted. Published by Oxford University Press for the Infectious Diseases Society of America 2015. This work is written by (a) US Government employee(s) and is in the public domain in the US.

  18. Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.

    Science.gov (United States)

    Miguet, Marguerite; Faivre, Laurence; Amiel, Jeanne; Nizon, Mathilde; Touraine, Renaud; Prieur, Fabienne; Pasquier, Laurent; Lefebvre, Mathilde; Thevenon, Julien; Dubourg, Christèle; Julia, Sophie; Sarret, Catherine; Remerand, Ganaëlle; Francannet, Christine; Laffargue, Fanny; Boespflug-Tanguy, Odile; David, Albert; Isidor, Bertrand; Vigneron, Jacqueline; Leheup, Bruno; Lambert, Laetitia; Philippe, Christophe; Béri-Dexheimer, Mylène; Cuisset, Jean-Marie; Andrieux, Joris; Plessis, Ghislaine; Toutain, Annick; Guibaud, Laurent; Cormier-Daire, Valérie; Rio, Marlene; Bonnefont, Jean-Paul; Echenne, Bernard; Journel, Hubert; Burglen, Lydie; Chantot-Bastaraud, Sandrine; Bienvenu, Thierry; Baumann, Clarisse; Perrin, Laurence; Drunat, Séverine; Jouk, Pierre-Simon; Dieterich, Klaus; Devillard, Françoise; Lacombe, Didier; Philip, Nicole; Sigaudy, Sabine; Moncla, Anne; Missirian, Chantal; Badens, Catherine; Perreton, Nathalie; Thauvin-Robinet, Christel; AChro-Puce, Réseau; Pedespan, Jean-Michel; Rooryck, Caroline; Goizet, Cyril; Vincent-Delorme, Catherine; Duban-Bedu, Bénédicte; Bahi-Buisson, Nadia; Afenjar, Alexandra; Maincent, Kim; Héron, Delphine; Alessandri, Jean-Luc; Martin-Coignard, Dominique; Lesca, Gaëtan; Rossi, Massimiliano; Raynaud, Martine; Callier, Patrick; Mosca-Boidron, Anne-Laure; Marle, Nathalie; Coutton, Charles; Satre, Véronique; Caignec, Cédric Le; Malan, Valérie; Romana, Serge; Keren, Boris; Tabet, Anne-Claude; Kremer, Valérie; Scheidecker, Sophie; Vigouroux, Adeline; Lackmy-Port-Lis, Marilyn; Sanlaville, Damien; Till, Marianne; Carneiro, Maryline; Gilbert-Dussardier, Brigitte; Willems, Marjolaine; Van Esch, Hilde; Portes, Vincent Des; El Chehadeh, Salima

    2018-04-04

    The Xq28 duplication involving the MECP2 gene ( MECP2 duplication) has been mainly described in male patients with severe developmental delay (DD) associated with spasticity, stereotypic movements and recurrent infections. Nevertheless, only a few series have been published. We aimed to better describe the phenotype of this condition, with a focus on morphological and neurological features. Through a national collaborative study, we report a large French series of 59 affected males with interstitial MECP2 duplication. Most of the patients (93%) shared similar facial features, which evolved with age (midface hypoplasia, narrow and prominent nasal bridge, thick lower lip, large prominent ears), thick hair, livedo of the limbs, tapered fingers, small feet and vasomotor troubles. Early hypotonia and global DD were constant, with 21% of patients unable to walk. In patients able to stand, lower limbs weakness and spasticity led to a singular standing habitus: flexion of the knees, broad-based stance with pseudo-ataxic gait. Scoliosis was frequent (53%), such as divergent strabismus (76%) and hypermetropia (54%), stereotypic movements (89%), without obvious social withdrawal and decreased pain sensitivity (78%). Most of the patients did not develop expressive language, 35% saying few words. Epilepsy was frequent (59%), with a mean onset around 7.4 years of age, and often (62%) drug-resistant. Other medical issues were frequent: constipation (78%), and recurrent infections (89%), mainly lung. We delineate the clinical phenotype of MECP2 duplication syndrome in a large series of 59 males. Pulmonary hypertension appeared as a cause of early death in these patients, advocating its screening early in life. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  19. The human homolog of insect-derived growth factor, CECR1, is a candidate gene for features of cat eye syndrome.

    Science.gov (United States)

    Riazi, M A; Brinkman-Mills, P; Nguyen, T; Pan, H; Phan, S; Ying, F; Roe, B A; Tochigi, J; Shimizu, Y; Minoshima, S; Shimizu, N; Buchwald, M; McDermid, H E

    2000-03-15

    Cat eye syndrome (CES) is a developmental disorder with multiple organ involvement, associated with the duplication of a 2-Mb region of 22q11.2. Using exon trapping and genomic sequence analysis, we have isolated and characterized a gene, CECR1, that maps to this critical region. The protein encoded by CECR1 is similar to previously identified novel growth factors: IDGF from Sarcophaga peregrina (flesh fly) and MDGF from Aplysia californica (sea hare). The CECR1 gene is alternatively spliced and expressed in numerous tissues, with most abundant expression in human adult heart, lung, lymphoblasts, and placenta as well as fetal lung, liver, and kidney. In situ hybridization of a human embryo shows specific expression in the outflow tract and atrium of the developing heart, the VII/VIII cranial nerve ganglion, and the notochord. The location of this gene in the CES critical region and its embryonic expression suggest that the overexpression of CECR1 may be responsible for at least some features of CES, particularly the heart defects. Copyright 2000 Academic Press.

  20. Myoinositol combined with alpha-lipoic acid may improve the clinical and endocrine features of polycystic ovary syndrome through an insulin-independent action.

    Science.gov (United States)

    De Cicco, Simona; Immediata, Valentina; Romualdi, Daniela; Policola, Caterina; Tropea, Anna; Di Florio, Christian; Tagliaferri, Valeria; Scarinci, Elisa; Della Casa, Silvia; Lanzone, Antonio; Apa, Rosanna

    2017-09-01

    The aim of our study was to investigate the effects of a combined treatment with alpha-lipoic acid (ALA) and myoinositol (MYO) on clinical, endocrine and metabolic features of women affected by polycystic ovary syndrome (PCOS). In this pilot cohort study, forty women with PCOS were enrolled and clinical, hormonal and metabolic parameters were evaluated before and after a six-months combined treatment with ALA and MYO daily. Studied patients experienced a significant increase in the number of cycles in six months (p < 0.01). The free androgen index (FAI), the mean androstenedione and DHEAS levels significantly decreased after treatment (p < 0.05). Mean SHBG levels significantly raised (p < 0.01). A significant improvement in mean Ferriman-Gallwey (F-G) score (p < 0.01) and a significant reduction of BMI (p < 0.01) were also observed. A significant reduction of AMH levels, ovarian volume and total antral follicular count were observed in our studied women (p< 0.05). No significant changes occurred in gluco-insulinaemic and lipid parameters after treatment. The combined treatment of ALA and MYO is able to restore the menstrual pattern and to improve the hormonal milieu of PCOS women, even in the absence of apparent changes in insulin metabolism.

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

    Directory of Open Access Journals (Sweden)

    K S Shivaprasad

    2013-01-01

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

  2. Genetics Home Reference: mosaic variegated aneuploidy syndrome

    Science.gov (United States)

    ... they typically have an unusually small head size ( microcephaly ). Another common feature of MVA syndrome is an ... Other Names for This Condition mosaic variegated aneuplody microcephaly syndrome MVA syndrome Warburton-Anyane-Yeboa syndrome Related ...

  3. Effects of raw red onion consumption on metabolic features in overweight or obese women with polycystic ovary syndrome: a randomized controlled clinical trial.

    Science.gov (United States)

    Ebrahimi-Mamaghani, Mehranghiz; Saghafi-Asl, Maryam; Pirouzpanah, Saeed; Asghari-Jafarabadi, Mohammad

    2014-04-01

    We aimed to evaluate the effects of raw red onion consumption on metabolic features in overweight and obese women with polycystic ovary syndrome. In this randomized controlled clinical trial, the patients (n=54) were randomly allocated to the intervention group as 'high-onion' (raw red onions: 2 × 40-50 g/day if overweight and 2 × 50-60 g/day if obese) or to the control group as 'low-onion' (raw red onions: 2 × 10-15 g/day) along with limited liliaceous vegetables for 8 weeks. Body mass index, dietary record, and metabolic parameters (fasting blood sugar, triglycerides, total cholesterol, low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, and lipoprotein (a)) were evaluated in the follicular phase of the menstrual cycle at baseline and after 8 weeks. Hormonal variables (progesterone, prolactin, and 17-OH progesterone) were also measured at baseline. Onion significantly decreased the levels of total cholesterol within each group; however, these changes were stronger in the high-onion group (weighted mean differences [WMD]: -5.60 [95% confidence interval [CI]: -9.16, -2.03]; P=0.003) than in the low-onion group (WMD: -6.42 [95%CI: -11.97, -0.87]; P=0.025). Similarly, low-density lipoprotein cholesterol decreased significantly (WMD: -5.13 [95%CI: -9.46, -0.81); P=0.022) in the high-onion group, and (WMD: -2.90 [95%CI -5.57, -0.21]; P=0.035) in the low-onion group after treatment. The levels of fasting blood sugar, triglycerides, high-density lipoprotein cholesterol and lipoprotein (a) did not differ significantly after 8-week onion treatment. Adjustment for confounders did not make any significant changes in any of the parameters in post-treatment levels. Raw red onion consumption appears to be effective as a cholesterol-lowering food agent in women with polycystic ovary syndrome. However, further investigation is warranted. © 2014 The Authors. Journal of Obstetrics and Gynaecology Research © 2014 Japan Society of Obstetrics and Gynecology.

  4. Effects of short- and long-term Mediterranean-based dietary treatment on plasma LC-QTOF/MS metabolic profiling of subjects with metabolic syndrome features: The Metabolic Syndrome Reduction in Navarra (RESMENA) randomized controlled trial.

    Science.gov (United States)

    Bondia-Pons, Isabel; Martinez, José Alfredo; de la Iglesia, Rocio; Lopez-Legarrea, Patricia; Poutanen, Kaisa; Hanhineva, Kati; Zulet, Maria de los Ángeles

    2015-04-01

    Adherence to the Mediterranean diet has been associated with a reduced risk of metabolic syndrome (MetS). Metabolomics approach may contribute to identify beneficial associations of metabolic changes affected by Mediterranean diet-based interventions with inflammatory and oxidative-stress markers related to the etiology and development of the MetS. Liquid chromatography coupled to quadrupole-time of flight-MS metabolic profiling was applied to plasma from a 6-month randomized intervention with two sequential periods, a 2-month nutritional-learning intervention period, and a 4-month self-control period, with two energy-restricted diets; the RESMENA diet (based on the Mediterranean dietary pattern) and the Control diet (based on the American Heart Association guidelines), in 72 subjects with a high BMI and at least two features of MetS. The major contributing biomarkers of each sequential period were lipids, mainly phospholipids and lysophospholipids. Dependency network analysis showed a different pattern of associations between metabolic changes and clinical variables after 2 and 6 month of intervention, with a highly interconnected network during the nutritional-learning intervention period of the study. The 2-month RESMENA diet produced significant changes in the plasma metabolic profile of subjects with MetS features. However, at the end of the 6-month study, most of the associations between metabolic and clinical variables disappeared; suggesting that adherence to healthy dietary habits had declined during the self-control period. © 2015 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

  5. Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features.

    Science.gov (United States)

    Carvalho, Ellaine; Honjo, Rachel; Magalhães, Monize; Yamamoto, Guilherme; Rocha, Katia; Naslavsky, Michel; Zatz, Mayana; Passos-Bueno, Maria Rita; Kim, Chong; Bertola, Debora

    2015-05-01

    Schinzel-Giedion syndrome is a rare autosomal dominant disorder comprising postnatal growth failure, profound developmental delay, seizures, facial dysmorphisms, genitourinary, skeletal, neurological, and cardiac defects. It was recently revealed that Schinzel-Giedion syndrome is caused by de novo mutations in SETBP1, but there are few reports of this syndrome with molecular confirmation. We describe two unrelated Brazilian patients with Schinzel-Giedion syndrome, one of them carrying a novel mutation. We also present a review of clinical manifestations of the syndrome, comparing our cases to patients reported in literature emphasizing the importance of the facial gestalt associated with neurological involvement for diagnostic suspicion of this syndrome. © 2015 Wiley Periodicals, Inc.

  6. SELECTED FEATURES OF BLOOM SYNDROME

    Indian Academy of Sciences (India)

    NCI

    2017-06-30

    Jun 30, 2017 ... Clinical Symptoms: Type 2 diabetes. Proportional dwarfism. Sun induced erythema. Male infertility, female subfertility. Immune deficiency. Early onset cancer pre-disposition. BS patients predisposed to all types of cancer. BLM interact with proteins involved in. Genome surveillance. Homologous ...

  7. SELECTED FEATURES OF BLOOM SYNDROME

    Indian Academy of Sciences (India)

    NCI

    2017-06-30

    Jun 30, 2017 ... Clinical Symptoms: Poikilodermal lesions. Juvenile cataract. Skeletal abnormalities. Radial ray defects. Alopecia. Predisposition towardscertain forms of cancer. (Osteosarcoma and Lymphoma). RECQL4 interact with. Mitochondrial polymerases. Tumour suppressor p53. Proteins involved in DNA repair.

  8. Features of Fragile X Syndrome

    Science.gov (United States)

    ... friendly, have excellent imitation skills, have a strong visual memory/long term memory, like to help ... often have milder intellectual disability and a milder presentation of the syndrome’s behavioral ...

  9. A case of familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic features

    Science.gov (United States)

    Dumitrescu, Claudia E.; Kelly, Marilyn H.; Khosravi, Azarmindokht; Hart, Thomas C.; Brahim, Jaime; White, Kenneth E.; Farrow, Emily G.; Nathan, Muriel H.; Murphey, Mark D.; Collins, Michael T.

    2008-01-01

    Introduction Familial tumoral calcinosis (FTC) and hyperostosis-hyperphosphatemia syndrome (HHS) are caused by mutations in FGF23, GALNT3, or KLOTHO. They are characterized by hyperphosphatemia, increased phosphate reabsorption, and elevated or inappropriately normal serum 1, 25-dihydroxyvitamin D3 (1,25-D); FTC is associated with calcific masses, and HHS with diaphyseal hyperostosis. Methods A 36-year-old woman presented with abnormal dental x-rays at age 12, and was hyperphosphatemic at 22. She underwent radiographic, biochemical and genetic testing, and medical treatment. Results Serum phosphorus was 7.3 mg/dl (2.5-4.8), TmP/GFR 6.99 mg/100 ml (2.97-4.45), 1,25-D3 35 pg/ml (22-67). Radiographs revealed tooth anomalies, thyroid cartilage calcification, calcific masses in vertebral spaces, calcification of the interstitial septae of the soft tissue in the lower extremities, and cortical thickening of the long bones. Her total hip Z-Score was 1.9. C-terminus serum FGF23 was 1210 RU/ml (20-108), but intact FGF23 was 7.4 pg/ml (10-50). DNA sequencing determined she was a compound heterozygote for mutations in GALNT3. Treatment with niacinamide and acetazolamide decreased TmP/GFR and serum phosphate, which was paralleled by a decrease in serum C-terminus FGF23. Conclusions This case broadens the spectrum of phenotypic and genotypic features of FTC/HHS, and suggests treatments to decrease renal phosphate reabsorption in the setting of a low intact FGF23. PMID:18982401

  10. Clinical features and radiological findings of adenovirus pneumonia associated with progression to acute respiratory distress syndrome: A single center study in 19 adult patients

    Energy Technology Data Exchange (ETDEWEB)

    Cha, Min Jae; Chong, Semin [Dept. of Radiology, Chung-Ang University Hospital, Chung-Ang University College of Medicine, Seoul (Korea, Republic of); Chung, Myung Jin; Lee, Kyung Soo; KIm, Tae Jung; Kim, Tae Sung; Han, Jung Ho [Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul (Korea, Republic of)

    2016-11-15

    To describe radiologic findings of adenovirus pneumonia and to understand clinico-radiological features associated with progression to acute respiratory distress syndrome (ARDS) in patients with adenovirus pneumonia. This study included 19 patients diagnosed with adenovirus pneumonia at a tertiary referral center, in the period between March 2003 and April 2015. Clinical findings were reviewed, and two radiologists assessed imaging findings by consensus. Chi-square, Fisher's exact, and Student's t tests were used for comparing patients with and without subsequent development of ARDS. Of 19 patients, nine were immunocompromised, and 10 were immunocompetent. Twelve patients (63%) progressed to ARDS, six of whom (32%) eventually died from the disease. The average time for progression to ARDS from symptom onset was 9.6 days. Initial chest radiographic findings were normal (n = 2), focal opacity (n = 9), or multifocal or diffuse opacity (n = 8). Computed tomography (CT) findings included bilateral (n = 17) or unilateral (n = 2) ground-glass opacity with consolidation (n = 14) or pleural effusion (n = 11). Patients having subsequent ARDS had a higher probability of pleural effusion and a higher total CT extent compared with the non-ARDS group (p = 0.010 and 0.007, respectively). However, there were no significant differences in clinical variables such as patient age and premorbid condition. Adenovirus pneumonia demonstrates high rates of ARDS and mortality, regardless of patient age and premorbid conditions, in the tertiary care setting. Large disease extent and presence of pleural effusion on CT are factors suggestive of progression to ARDS.

  11. Autosomal Dominant STAT3 Deficiency and Hyper-IgE Syndrome Molecular, Cellular, and Clinical Features From a French National Survey

    Science.gov (United States)

    Chandesris, Marie-Olivia; Melki, Isabelle; Natividad, Angels; Puel, Anne; Fieschi, Claire; Yun, Ling; Thumerelle, Caroline; Oksenhendler, Eric; Boutboul, David; Thomas, Caroline; Hoarau, Cyrille; Lebranchu, Yvon; Stephan, Jean-Louis; Cazorla, Celine; Aladjidi, Nathalie; Micheau, Marguerite; Tron, Fran[cedil]cois; Baruchel, Andre; Barlogis, Vincent; Palenzuela, Gilles; Mathey, Catherine; Dominique, Stephane; Body, Gerard; Munzer, Martine; Fouyssac, Fanny; Jaussaud, Rolland; Bader-Meunier, Brigitte; Mahlaoui, Nizar; Blanche, Stephane; Debre, Marianne; Le Bourgeois, Muriel; Gandemer, Virginie; Lambert, Nathalie; Grandin, Virginie; Ndaga, Stephanie; Jacques, Corinne; Harre, Chantal; Forveille, Monique; Alyanakian, Marie-Alexandra; Durandy, Anne; Bodemer, Christine; Suarez, Felipe; Hermine, Olivier; Lortholary, Olivier; Casanova, Jean-Laurent; Fischer, Alain; Picard, Capucine

    2013-01-01

    Autosomal dominant deficiency of signal transducer and activator of transcription 3 (STAT3) is the main genetic etiology of hyper-immunoglobulin (Ig) E syndrome. We documented the molecular, cellular, and clinical features of 60 patients with heterozygous STAT3 mutations from 47 kindreds followed in France. We identified 11 known and 13 new mutations of STAT3. Low levels of interleukin (IL)-6-dependent phosphorylation and nuclear translocation (or accumulation) of STAT3 were observed in Epstein-Barr virus-transformed B lymphocytes (EBV-B cells) from all STAT3-deficient patients tested. The immunologic phenotype was characterized by high serum IgE levels (96% of the patients), memory B-cell lymphopenia (94.5%), and hypereosinophilia (80%). A low proportion of IL-17A-producing circulating T cells was found in 14 of the 15 patients tested. Mucocutaneous infections were the most frequent, typically caused by Staphylococcus aureus (all patients) and Candida albicans (85%). Up to 90% of the patients had pneumonia, mostly caused by Staph. aureus (31%) or Streptococcus pneumoniae (30%). Recurrent pneumonia was associated with secondary bronchiectasis and pneumatocele (67%), as well as secondary aspergillosis (22%). Up to 92% of the patients had dermatitis and connective tissue abnormalities, with facial dysmorphism (95%), retention of decidual teeth (65%), osteopenia (50%), and hyperextensibility (50%). Four patients developed non-Hodgkin lymphoma. The clinical outcome was favorable, with 56 patients, including 43 adults, still alive at the end of study (mean age, 21 yr; range, 1 mo to 46 yr). Only 4 patients died, 3 from severe bacterial infection (aged 1, 15, and 29 yr, respectively). Antibiotic prophylaxis (90% of patients), antifungal prophylaxis (50%), and IgG infusions (53%) improved patient health, as demonstrated by the large decrease in pneumonia recurrence. Overall, the prognosis of STAT3 deficiency may be considered good, provided that multiple prophylactic

  12. Clinical features, therapeutic interventions and long-term aspects of hemolytic-uremic syndrome in Norwegian children: a nationwide retrospective study from 1999-2008.

    Science.gov (United States)

    Jenssen, Gaute Reier; Vold, Line; Hovland, Eirik; Bangstad, Hans-Jacob; Nygård, Karin; Bjerre, Anna

    2016-06-13

    Hemolytic-uremic syndrome (HUS) is a clinical triad of microangiopathic hemolytic anemia, impaired renal function and thrombocytopenia, primarily affecting pre-school-aged children. HUS can be classified into diarrhea-associated HUS (D(+)HUS), usually caused by Shiga toxin-producing Escherichia coli (STEC), and non-diarrhea-associated HUS (D(-)HUS), both with potentially serious acute and long-term complications. Few data exists on the clinical features and long-term outcome of HUS in Norway. The aim of this paper was to describe these aspects of HUS in children over a 10-year period. We retrospectively collected data on clinical features, therapeutic interventions and long-term aspects directly from medical records of all identified HUS cases dialysis, with hemodialysis used most often in both groups, and plasma infusion(s) were utilized in 6/38 and 4/9 patients, respectively. Of extra-renal complications, neurological complications occurred in 9/38 and 2/9, serious gastrointestinal complications in 6/38 and 1/9, respiratory complications in 10/38 and 2/9, and sepsis in 11/38 and 3/9 cases, respectively. Cardiac complications were seen in two D(+)HUS cases. In patients where data on follow up ≥1 year after admittance were available, 8/21 and 4/7 had persistent proteinuria and 5/19 and 4/5 had persistent hypertension in the D(+)HUS and D(-)HUS group, respectively. Two D(+)HUS and one D(-)HUS patient were diagnosed with chronic kidney disease and one D(+)HUS patient required a renal transplantation. Two D(+)HUS patients died in the acute phase (death rate; 5 %). The HUS cases had a high rate of complications and sequelae, including renal, CNS-related, cardiac, respiratory, serious gastrointestinal complications and sepsis, consistent with other studies. This underlines the importance of attention to extra-renal manifestations in the acute phase and in renal long-term follow-up of HUS patients.

  13. A new mutation in WFS1 gene (C.1522-1523delTA, Y508fsX421) may be responsible for early appearance of clinical features of Wolfram syndrome and suicidal behaviour.

    Science.gov (United States)

    Aluclu, Mehmet Ufuk; Bahceci, Mithat; Tuzcu, Alpaslan; Arikan, Senay; Gokalp, Deniz

    2006-12-01

    Wolfram syndrome (WS) is an autosomal recessive disorder characterized by the association of juvenile-onset diabetes mellitus and optic atrophy. It is also known by the acronym DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). We diagnosed Wolfram syndrome in 2 male siblings and determined a new mutation (c. 1522-1523delTA, Y508fsX421). Both affected siblings were homozygous, other family members were heterozygous. Dilated renal outflow tracts in the third decade, and neuropsychiatric disorders including bipolar disorder and neurosensorial deafness appear in the fourth decade in ordinary WS, whereas these features appeared in second decade in our patients. This mutation may be responsible for early appearance of dilated renal outflow tracts and multiple neurological abnormalities. Psychiatric disturbances such as suicide were reported at increased frequency in Wolfram patients and in heterozygous carriers. Suicidal behaviour occurred in our patients when they were yet 11 and 13 years old. Therefore, our findings may indicate that there may be a relationship between this WFS1 mutation and mood disorder such as suicidal behaviour. We determined a new mutation (c. 1522-1523delTA, Y508fsX421) in WS1 gene in 2 siblings with Wolfram syndrome. This mutation may be responsible for early appearance of clinical features of Wolfram syndrome, and there may be a relationship between this mutation and suicidal behaviour.

  14. Prune belly syndrome

    Science.gov (United States)

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

  15. Cri du chat syndrome

    Science.gov (United States)

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

  16. Chediak-Higashi syndrome

    Science.gov (United States)

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

  17. Obesity hypoventilation syndrome (OHS)

    Science.gov (United States)

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

  18. Meconium aspiration syndrome

    Science.gov (United States)

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

  19. Down Syndrome (For Kids)

    Science.gov (United States)

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

  20. Hyperimmunoglobulin E syndrome

    Science.gov (United States)

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

  1. [Features of brain mechanisms of regulation of the level of wakefulness, organization of cognitive functions and adaptive reactions in children with attention deficit with hyperactivity syndrome and healthy children].

    Science.gov (United States)

    Iliukhina, V A; Krivoshchapova, M N; Manzhosova, G V

    2011-01-01

    In work results of research of features of infringement superslow cortical-truncal, limbic-reticular and upsegmentary mechanisms of regulation of a level of wakefulness at children of 6-7 years with a syndrome of deficiency of attention and hyperactivity and healthy children, pupils of 1 class of a comprehensive school with different type of psychological adaptation are generalized. At use system-integrativity psychophysiology the approach features are established: a) organization emotional-motivational and cognitive spheres; b) psychophysiology mechanisms of formation of adaptive reactions at tactile interaction about earlier unknown alive object--a dolphin at the surveyed contingent of healthy and ill children.

  2. RESISTANT HYPERTENSION IN A PATIENT WITH METABOLIC SYNDROME

    OpenAIRE

    O. M. Drapkina; J. S. Sibgatullina

    2016-01-01

    Clinical case of resistant hypertension in a patient with metabolic syndrome is presented. Features of hypertension in metabolic syndrome and features of metabolic syndrome in women of pre- and postmenopausal age are also considered. Understanding the features of metabolic syndrome in women, as well as features of hypertension and metabolic syndrome will improve the results of treatment in patients with resistant hypertension.

  3. Síndromes mielodisplásicas e mielodisplásicas/mieloproliferativas Myelodysplastic syndromes and diseases with myelodysplastic and myeloproliferative features

    Directory of Open Access Journals (Sweden)

    José Vassallo

    2009-08-01

    Full Text Available As síndromes mielodisplásicas (SMD representam um grupo heterogêneo de doenças hematológicas caracterizadas por hematopoese ineficaz e risco aumentado de evolução para leucemia mieloide aguda. Neste artigo educativo são apresentados aspectos gerais da sua fisiopatologia, diagnóstico, apresentação histopatológica e seu papel no diagnóstico diferencial, classificação e estratificação prognóstica. Ressalta-se a importância da avaliação clínica e laboratorial, que inclui avaliação do sangue periférico e medula óssea: morfologia - aspirado medular e biópsia óssea -, citogenética, imunofenotipagem, além de dados evolutivos. O diagnóstico definitivo, em especial nos casos de baixo risco, deve considerar a exclusão de causas não clonais que podem, através de alterações dismielopoéticas reativas, simular a mielodisplasia, tais como infecções virais, principalmente pelo HIV. A nova classificação revisada da Organização Mundial da Saúde (OMS-2008 é apresentada e discutida.Myelodysplastic syndromes (MDS represent a heterogeneous group of hematologic disorders characterized by ineffective hematopoiesis and an increased risk of developing acute myeloid leukemia. In this educational article the general aspects of the physiopathology, diagnosis, and histopathological features of MDS and their role in differential diagnosis, classification and prognostic categorization are presented. The importance of clinical and laboratory evaluations, including peripheral blood and bone marrow analyses, including morphology - aspirate and core biopsy, cytogenetics, immunophenotype and careful serial follow-up is emphasized. Definite diagnosis of MDS, especially in low-risk subtypes, should consider the exclusion of disorders with reactive bone marrow alterations, such as viral infections for example HIV. The new revised World Health Organization (WHO-2008 classification is presented and discussed.

  4. GASTROESOPHAGEAL REFLUX DISEASE IN PATIENTS WITH FUNCTIONAL DYSPEPSIA AND CONSTIPATION PREDOMINANT IRRITABLE BOWEL SYNDROME: CLINICAL FEATURES AND EFFICACY OF LACTULOSE AND ITOPRIDE HYDROCHLORIDE

    Directory of Open Access Journals (Sweden)

    O. V. Krapivnaya

    2014-01-01

    Full Text Available Background: The frequent coexistence of gastroesophageal reflux disease (GERD with functional dyspepsia (FD and an irritable bowel syndrome (IBS has been described in the literature. Aim: To study the specific features of GERD clinical course and diagnosis in patients with GERD in combination with FD and constipation predominant IBS (IBS-C in comparison to patients with isolated GERD; to assess the efficacy of lactulose and itopride hydrochloride. Materials and methods: A total of 60 patients with GERD, FD (Rome criteria III, and IBS-C (Rome criteria III and 29 patients with isolated GERD were examined. GERD diagnosis was based on clinical, endoscopic, and pH-metric criteria. For 4 weeks 10 patients with combination of non-erosive reflux disease (NERD, FD and IBS-C received lactulose monotherapy and other 10 patients received combination of lactulose with itopride hydrochloride. Clinical symptoms and pH-metric parameters were assessed before and 4 weeks after treatment. Results: Combination of GERD, FD and IBS-C was noted more frequently in women under 40 with normal body mass index (р<0.05. Classic GERD symptoms were absent in 43.4% of patients with gastrointestinal comorbidity and in 10.3% of patients with isolated GERD (р=0.004. A higher prevalence of belching and nausea was found in patients, suffering from GERD, FD and IBS-C, than in those with isolated GERD (р<0.05. After 4-week lactulose and itopride hydrochloride treatment all the patients with GERD, FD and IBS-C showed a reduction of clinical symptoms (p<0.05 and normalization of pH-metric parameters (р<0.001. Conclusion: GERD course in patients with concomitant FD and IBS-C has the following peculiarities: predominance of women, absence of classic GERD-symptoms in almost half of these patients, and frequent combination with other functional symptoms. Combination therapy with lactulose and itopride hydrochloride enables successful control of GERD and FD symptoms as well as

  5. Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome

    Science.gov (United States)

    Kolanczyk, Mateusz; Krawitz, Peter; Hecht, Jochen; Hupalowska, Anna; Miaczynska, Marta; Marschner, Katrin; Schlack, Claire; Emmerich, Denise; Kobus, Karolina; Kornak, Uwe; Robinson, Peter N; Plecko, Barbara; Grangl, Gernot; Uhrig, Sabine; Mundlos, Stefan; Horn, Denise

    2015-01-01

    Ritscher-Schinzel syndrome (RSS)/3C (cranio-cerebro-cardiac) syndrome (OMIM#220210) is a rare and clinically heterogeneous developmental disorder characterized by intellectual disability, cerebellar brain malformations, congenital heart defects, and craniofacial abnormalities. A recent study of a Canadian cohort identified homozygous sequence variants in the KIAA0196 gene, which encodes the WASH complex subunit strumpellin, as a cause for a form of RSS/3C syndrome. We have searched for genetic causes of a phenotype similar to RSS/3C syndrome in an Austrian family with two affected sons. To search for disease-causing variants, whole-exome sequencing (WES) was performed on samples from two affected male children and their parents. Before WES, CGH array comparative genomic hybridization was applied. Validation of WES and segregation studies was done using routine Sanger sequencing. Exome sequencing detected a missense variant (c.1670A>G; p.(Tyr557Cys)) in exon 15 of the CCDC22 gene, which maps to chromosome Xp11.23. Western blots of immortalized lymphoblastoid cell lines (LCLs) from the affected individual showed decreased expression of CCDC22 and an increased expression of WASH1 but a normal expression of strumpellin and FAM21 in the patients cells. We identified a variant in CCDC22 gene as the cause of an X-linked phenotype similar to RSS/3C syndrome in the family described here. A hypomorphic variant in CCDC22 was previously reported in association with a familial case of syndromic X-linked intellectual disability, which shows phenotypic overlap with RSS/3C syndrome. Thus, different inactivating variants affecting CCDC22 are associated with a phenotype similar to RSS/3C syndrome. PMID:24916641

  6. Delayed myelination is not a constant feature of Allan-Herndon-Dudley syndrome: report of a new case and review of the literature.

    Science.gov (United States)

    Azzolini, Sara; Nosadini, Margherita; Balzarin, Marta; Sartori, Stefano; Suppiej, Agnese; Mardari, Rodica; Greggio, Nella Augusta; Toldo, Irene

    2014-09-01

    Allan-Herndon-Dudley syndrome is an X-linked condition caused by mutations of the monocarboxylate transporter 8 gene. This syndrome is characterized by axial hypotonia, severe mental retardation, dysarthria, athetoid movements, spastic paraplegia, and a typical thyroid hormone profile. In most of the cases reported so far, brain magnetic resonance imaging showed delayed myelination of the central white matter and this finding greatly affects the diagnosis of the syndrome. We present a new case studied with magnetic resonance imaging and spectroscopy and we reviewed all the articles published between 2004 and 2012 containing information on brain neuroimaging in this syndrome. An Italian boy, showing a classical phenotype of the syndrome, was diagnosed at 17months of age. Genetic analysis revealed a new frameshift mutation of the monocarboxylate transporter 8 gene. His brain magnetic resonance imaging and spectroscopy, performed at the age of 14months, were normal. Among the 33 cases reported in the literature, 3 cases had normal neuroimaging and in 7 of 14 cases, having a longitudinal follow-up, the initial finding of delayed myelination gradually improved. Our case and the review of the pertinent literature suggest that Allan-Herndon-Dudley syndrome should be suspected in males with the typical neurological and thyroid profile, even in cases with normal brain myelination. Copyright © 2013 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  7. Cowden syndrome

    Directory of Open Access Journals (Sweden)

    Ravi Prakash S

    2010-01-01

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

  8. Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Ramachandran Sudarshan

    2012-08-01

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

  9. Diagnostik af Dravet syndrom

    DEFF Research Database (Denmark)

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

    2010-01-01

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

  10. Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

    NARCIS (Netherlands)

    Kaiser, Frank J.; Ansari, Morad; Braunholz, Diana; Concepción Gil-Rodríguez, María; Decroos, Christophe; Wilde, Jonathan J.; Fincher, Christopher T.; Kaur, Maninder; Bando, Masashige; Amor, David J.; Atwal, Paldeep S.; Bahlo, Melanie; Bowman, Christine M.; Bradley, Jacquelyn J.; Brunner, Han G.; Clark, Dinah; del Campo, Miguel; Di Donato, Nataliya; Diakumis, Peter; Dubbs, Holly; Dyment, David A.; Eckhold, Juliane; Ernst, Sarah; Ferreira, Jose C.; Francey, Lauren J.; Gehlken, Ulrike; Guillén-Navarro, Encarna; Gyftodimou, Yolanda; Hall, Bryan D.; Hennekam, Raoul; Hudgins, Louanne; Hullings, Melanie; Hunter, Jennifer M.; Yntema, Helger; Innes, A. Micheil; Kline, Antonie D.; Krumina, Zita; Lee, Hane; Leppig, Kathleen; Lynch, Sally Ann; Mallozzi, Mark B.; Mannini, Linda; McKee, Shane; Mehta, Sarju G.; Micule, Ieva; Mohammed, Shehla; Moran, Ellen; Mortier, Geert R.; Moser, Joe-Ann S.; Noon, Sarah E.; Nozaki, Naohito; Nunes, Luis; Pappas, John G.; Penney, Lynette S.; Pérez-Aytés, Antonio; Petersen, Michael B.; Puisac, Beatriz; Revencu, Nicole; Roeder, Elizabeth; Saitta, Sulagna; Scheuerle, Angela E.; Schindeler, Karen L.; Siu, Victoria M.; Stark, Zornitza; Strom, Samuel P.; Thiese, Heidi; Vater, Inga; Willems, Patrick; Williamson, Kathleen; Wilson, Louise C.; Hakonarson, Hakon; Quintero-Rivera, Fabiola; Wierzba, Jolanta; Musio, Antonio; Gillessen-Kaesbach, Gabriele; Ramos, Feliciano J.; Jackson, Laird G.; Shirahige, Katsuhiko; Pié, Juan; Christianson, David W.; Krantz, Ian D.; Fitzpatrick, David R.; Deardorff, Matthew A.

    2014-01-01

    Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder with distinct facies, growth failure, intellectual disability, distal limb anomalies, gastrointestinal and neurological disease. Mutations in NIPBL, encoding a cohesin regulatory protein, account for >80% of cases with typical

  11. A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis-ichthyosis-deafness (KID) syndrome

    DEFF Research Database (Denmark)

    Koppelhus, Uffe; Tranebjaerg, L; Esberg, G

    2011-01-01

    Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital ectodermal disorder, caused by heterozygous missense mutation in GJB2, encoding the gap junction protein connexin 26. The commonest mutation is the p.Asp50Asn mutation, and only a few other mutations have been described to date....

  12. Correlative study of the brain CT and clinical features of patients with Down's syndrome in three clinical stages of Alzheimer type dementia

    International Nuclear Information System (INIS)

    Maruyama, Keiko; Ikeda, Shu-ichi; Yanagisawa, Nobuo.

    1995-01-01

    Patients with Down's syndrome often develop Alzheimer type neuropathological changes as well as dementia of the Alzheimer type after the age of 40. We studied brain CT findings in relation to three clinical stages of Alzheimer type dementia in 11 patients with Down's syndrome aged from 17 to 55 years. In addition, 123 I-IMP-SPECT was studied in 4 of these patients. Dementia of the Alzheimer type was present in 9 patients; 5 patients were in the early stage, 2 were in the progressive stage, and the other 2 were in the end stage. The earliest CT finding was enlargement of the suprasellar cistern, which indicated atrophy of the medial temporal lobe including the hippocampus and amygdala. This finding was not present in non-demented individuals with Down's syndrome. Moreover, CT scans showed that brain atrophy progressed to the temporal, frontal lobe, and then generalized cerebral cortices, which correlated clinically with the severity of dementia. Studies of 123 I-IMP-SPECT in two patients with mild dementia revealed abnormally decreased isotope uptake in the temporal and posterior parietal regions. We suggest to measure the size of the suprasellar cistern in CT and SPECT scans for early detection and diagnosis of mild dementia of the Alzheimer type in patients with Down's syndrome. (author)

  13. Class II treatment in adults: comparing camouflage orthodontics, dentofacial orthopedics and orthognathic surgery--a cephalometric study to evaluate various therapeutic effects.

    Science.gov (United States)

    Kinzinger, Gero; Frye, Linda; Diedrich, Peter

    2009-01-01

    It was the aim of this clinical study to compare the skeletal and dentoalveolar effects as well as those on the profile of three different treatment approaches in Class II patients (camouflage orthodontics, dentofacial orthopedics, and combined orthodontic and surgical treatment). Our study cohort consisted of 60 young adults presenting a skeletal Class II, Division 1 malocclusion: 20 patients whose overjet was reduced by camouflage following premolar extraction, 20 patients whose occlusions were corrected by placement of a fixed functional orthopedic appliance, and 20 who underwent orthognathic surgery (bilateral sagittal split osteotomy of the mandible without genioplasty). We documented the therapeutic progress using cephalometry. Each patient group achieved a reduction in overjet via their respective treatment. While no treatment-related changes in the maxillary area were assessable, the effects on the mandible differed. We observed advancement of the bony chin and an increase in mandibular length in the sagittal-diagonal dimension in the surgical and functional orthopedic groups. However, the extent of the treatment-related changes was significant only in the group of patients that had undergone orthognathic surgery. Only the surgical group presented changes in vertical relationships. Incisor repositioning as an outcome of the respective treatments differed fundamentally, with those in the surgical group revealing significant protrusion of the upper incisors. The maxillary incisors were retruded and mandibular incisors proclined in the functional orthopedic group, whereas the upper and lower incisors both retruded significantly in the extraction group. Soft-tissue remodeling bore no linear relationship to treatment-induced skeletal and dental effects. Still, orthognathic surgery led to the most marked profile changes. Treatment using fixed functional orthopedic appliances reduced the convexity of the soft-tissue profile at least moderately. Camouflage

  14. Characteristics and fate of orthodontic articles submitted for publication: An exploratory study of the American Journal of Orthodontics and Dentofacial Orthopedics.

    Science.gov (United States)

    Farjo, Nadia; Turpin, David L; Coley, R Yates; Feng, Jianying

    2015-06-01

    In this study, we aimed to give insight into the article review process by investigating the characteristics and the fate of manuscripts submitted to the American Journal of Orthodontics and Dentofacial Orthopedics (AJO-DO). The following information was obtained for original articles submitted to the AJO-DO in 2008: (1) for rejected articles: the reasons for rejection and the journal of subsequent publication when applicable; (2) for accepted articles: the number of revisions and the time elapsed to publication; and (3) for all articles: study topic, study design, area of origin, and statistically significant findings. Findings were reported using descriptive statistics, the chi-square test for equality of proportions, and multiple regression where appropriate. Post-hoc pair-wise tests were checked against the Bonferroni correction to account for multiple testing. Of the 440 original articles submitted to AJO-DO in 2008, 116 (26%) were accepted and published an average of 21 months (SD, 5 months) after acceptance. Rejected articles totaled 324 (74%), with 137 (42%) finding subsequent publication an average of 22 months (SD, 11 months) after rejection by the AJO-DO. The top 3 reasons for rejection by the AJO-DO were (1) poor study design (59% of rejected articles), (2) outdated or unoriginal topic (42%), and (3) inappropriate for the AJO-DO's audience (27%). Manuscripts rejected for poor study design had the least success for subsequent publication, whereas those rejected as inappropriate for the AJO-DO had the highest rate of publication elsewhere. Area of origin was significantly associated with acceptance by the AJO-DO, with articles from United States and Canada most likely to be accepted (P Articles from countries with the lowest publication rate in the AJO-DO had the highest publication rate elsewhere. The presence of statistically significant findings was shown to be significantly associated with acceptance by the AJO-DO (P = 0.013) but not with

  15. Psychosocial Factors and Central Sensitivity Syndromes

    OpenAIRE

    Adams, Leah M.; Turk, Dennis C.

    2015-01-01

    Central sensitivity syndromes (CSSs) represent a heterogeneous group of disorders (e.g., fibromyalgia [FM], irritable bowel syndrome [IBS], chronic headache, temporomandibular disorders [TMDs], pelvic pain syndromes) that share common symptoms, with persistent pain being the most prominent feature.

  16. Hearing impairment in genotyped Wolfram syndrome patients.

    NARCIS (Netherlands)

    Plantinga, R.F.; Pennings, R.J.E.; Huygen, P.L.M.; Bruno, R.; Eller, P.; Barrett, T.G.; Vialettes, B.; Paquis-Fluklinger, V.; Lombardo, F.; Cremers, C.W.R.J.

    2008-01-01

    OBJECTIVES: Wolfram syndrome is a progressive neurodegenerative syndrome characterized by the features "DIDMOAD" (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). We sought to study the audiometric data of genotyped Wolfram syndrome patients with sensorineural hearing impairment.

  17. The cracked tooth syndrome: an elusive diagnosis.

    Science.gov (United States)

    Türp, J C; Gobetti, J P

    1996-10-01

    The authors review the literature and present a case of cracked tooth syndrome. Special emphasis is placed on diagnostic problems associated with this syndrome. The case report demonstrates classic and atypical features of cracked tooth syndrome.

  18. Long-term AICAR administration reduces metabolic disturbances and lowers blood pressure in rats displaying features of the insulin resistance syndrome

    DEFF Research Database (Denmark)

    Buhl, Esben Selmer; Jessen, Niels; Pold, Rasmus

    2002-01-01

    clamp conditions. To investigate whether chronic AICAR administration, in addition to the beneficial effects on insulin sensitivity, is capable of improving other phenotypes associated with the insulin resistance syndrome, obese Zucker (fa/fa) rats (n = 6) exhibiting insulin resistance, hyperlipidemia......The insulin resistance syndrome is characterized by several risk factors for cardiovascular disease. Chronic chemical activation of AMP-activated protein kinase by the adenosine analog 5-aminoimidazole-4-carboxamide-1-beta -D-ribofuranoside (AICAR) has been shown to augment insulin action......-treated animals exhibited a tendency toward decreased intra-abdominal fat content. Furthermore, AICAR administration normalized the oral glucose tolerance test and decreased fasting concentrations of glucose and insulin close to the level of the lean animals. Finally, in line with previous findings, AICAR...

  19. FEATURE ARTICLE

    African Journals Online (AJOL)

    or impaired glucose tolerance), insulin resistance, central obesity, dyslipidemia, and hypertension, all well documented risk factors for cardiovascular diseases. The metabolic syndrome is associated with an increased risk for the development of type 2 diabetes mellitus and cardiovascular disease. People with the syndrome.

  20. Refractory and/or Relapsing Cryptococcosis Associated with Acquired Immune Deficiency Syndrome: Clinical Features, Genotype, and Virulence Factors of Cryptococcus spp. Isolates

    OpenAIRE

    Nascimento, Erika; Vitali, Lucia H.; Tonani, Ludmilla; Von Zeska Kress, Marcia R.; Takayanagui, Osvaldo M.; Martinez, Roberto

    2016-01-01

    Refractory and relapsing crytocococcosis in acquired immune deficiency syndrome (AIDS) patients have a poor prognosis. The risk factors for this complicated infection course were evaluated by comparing refractory and/or relapsing cryptococcosis in human immunodeficiency virus–coinfected patients (cohort 1) with another group of AIDS patients who adequately responded to antifungals (cohort 2). Except for one isolate of Cryptococcus gattii from a cohort 2 case, all other isolates were identifie...