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. 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.

  3. 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.

  4. Multidisciplinary approach for management of dentofacial deformity of a patient with goldenhar syndrome

    Directory of Open Access Journals (Sweden)

    Usha Shenoy

    2018-01-01

    Full Text Available Goldenhar syndrome is a rare congenital craniofacial deformity, associated with anomalies of the head and spinal cord. The syndrome may affect the eyes, ears, face, and mouth and can also differ greatly in the degree of seriousness. The precise etiology of this syndrome is still not identified. Adult patients with dentoskeletal deformities usually need orthodontic and surgical corrections, requiring an integrated approach, patient cooperation, and systemized treatment planning. A poor facial appearance is often the patient's chief complaint, but it may be accompanied by functional problems, temporomandibular joints disorders, or psychosocial handicaps. The present case report highlights the orthodontic and surgical management of a patient with Goldenhar syndrome.

  5. 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)

  6. 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.

  7. Goldenhar syndrome with unusual features

    Directory of Open Access Journals (Sweden)

    Mehta Bijal

    2008-01-01

    Full Text Available We report here the case of a 17 year-old girl with the classic signs of Goldenhar syndrome in the form of multiple accessory tragi, bilateral ocular dermoids, mandibular hypoplasia (micrognathia and cervical lordosis. She also had a high arched palate, gingival hypertrophy and malaligned teeth, features which are as yet unreported.

  8. Goldenhar syndrome with unusual features.

    Science.gov (United States)

    Mehta, Bijal; Nayak, Chitra; Savant, Shankar; Amladi, Sangeeta

    2008-01-01

    We report here the case of a 17 year-old girl with the classic signs of Goldenhar syndrome in the form of multiple accessory tragi, bilateral ocular dermoids, mandibular hypoplasia (micrognathia) and cervical lordosis. She also had a high arched palate, gingival hypertrophy and malaligned teeth, features which are as yet unreported.

  9. Psychopathological features in Noonan syndrome.

    Science.gov (United States)

    Perrino, Francesca; Licchelli, Serena; Serra, Giulia; Piccini, Giorgia; Caciolo, Cristina; Pasqualetti, Patrizio; Cirillo, Flavia; Leoni, Chiara; Digilio, Maria Cristina; Zampino, Giuseppe; Tartaglia, Marco; Alfieri, Paolo; Vicari, Stefano

    2018-01-01

    Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, skeletal and haematological/lymphatic defects, distinctive facies, cryptorchidism, and a wide spectrum of congenital heart defects. Recurrent features also include variable cognitive deficits and behavioural problems. Recent research has been focused on the assessment of prevalence, age of onset and characterization of psychiatric features in this disorder. Herein, we evaluated the prevalence of attention deficit and hyperactivity disorder (ADHD), anxiety and depressive symptoms and syndromes in a cohort of individuals with clinical and molecular diagnosis of NS. The Kiddie Schedule for Affective Disorders and Schizophrenia for School-Age Children Present and Lifetime version (K-SADS PL) has been used for the assessment of psychiatric disorders according to Diagnostic and Statistical Manual of Mental Disorders (DSM-IV). Multidimensional Anxiety Scale for Children (MASC) and the Children's Depression Inventory (CDI) have been assessed for the evaluation of anxiety and depressive symptoms and syndromes, whereas Conners Teacher and Parent Rating Scales-long version (CRS-R) have been used to evaluate ADHD. The study included 27 individuals (67% males) with an average age of 10.4 years (range 6-18 years) receiving molecular diagnosis of NS or a clinically related condition, evaluated and treated at the Neuropsychiatric Unit of Children's Hospital Bambino Gesù and at the Center for Rare Diseases of Fondazione Policlinico Universitario Agostino Gemelli, in Rome. Twenty individuals showed mutations in PTPN11, five in SOS1 and two in SHOC2. The mean IQ was 94 (Standard Deviation = 17, min = 56, max = 130). Seventy percent of the individuals (n = 19; 95% Confidence Interval = 52-85%) showed ADHD features, with six individuals reaching DSM-IV-TR criteria for ADHD disorder, and thirteen showing subsyndromal traits. Symptoms or syndrome of anxiety were present in 37% of the cohort

  10. Radiologic features in histiocytosis syndrome

    International Nuclear Information System (INIS)

    Hong, Sung Mo; Cho, Byung Jae; Yeon, Kyung Mo

    1980-01-01

    Histiocytosis syndrome is not rare disease of unknown etiology, characterized by development of granulomatous lesions with histiocytic proliferation. Authors analyzed 22 cases, which had been confirmed as histiocytosis syndrome from 1971 to Feb. 1980 with special attention to 15 cases showing positive findings on radiological examinations. The results are as follows. 1. Overall male to female ratio was about 2:1. The majority were between 1 and 7 years of age. 2. Skeletal system was involved in orders as follows: skull, pelvis, femur, rib, spine. 3. Four cases of pulmonary involvement were experienced. All cases had interstitial involvement with reticulonodular densities on roentgenograms. 4. We had experienced a pituitary tumor, presumably localized histiocytic mass, in a patient with diabetes insipidus. 5. In long bone involvement, diaphysis or metaphysis was usually involved, but in one patient, lesion were extended into epiphysis. 6. One case of platyspondyly was found, with symmetrical compression

  11. Radiologic features in histiocytosis syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Hong, Sung Mo; Cho, Byung Jae; Yeon, Kyung Mo [College of Medicine, Seoul National University, Seoul (Korea, Republic of)

    1980-12-15

    Histiocytosis syndrome is not rare disease of unknown etiology, characterized by development of granulomatous lesions with histiocytic proliferation. Authors analyzed 22 cases, which had been confirmed as histiocytosis syndrome from 1971 to Feb. 1980 with special attention to 15 cases showing positive findings on radiological examinations. The results are as follows. 1. Overall male to female ratio was about 2:1. The majority were between 1 and 7 years of age. 2. Skeletal system was involved in orders as follows: skull, pelvis, femur, rib, spine. 3. Four cases of pulmonary involvement were experienced. All cases had interstitial involvement with reticulonodular densities on roentgenograms. 4. We had experienced a pituitary tumor, presumably localized histiocytic mass, in a patient with diabetes insipidus. 5. In long bone involvement, diaphysis or metaphysis was usually involved, but in one patient, lesion were extended into epiphysis. 6. One case of platyspondyly was found, with symmetrical compression.

  12. Features of Fragile X Syndrome

    Science.gov (United States)

    ... Disabilities in FXS include a range from moderate learning disabilities to more severe intellectual disabilities. Physical features may ... intellectual disability. Others may have moderate or mild learning disabilities, emotional/mental health issues, general anxiety and/or ...

  13. Roentgenologic features of the Meckel syndrome

    Energy Technology Data Exchange (ETDEWEB)

    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.

  14. 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.)

  15. Cleft Lip and Palate in CHARGE Syndrome: Phenotypic Features That Influence Management.

    Science.gov (United States)

    Isaac, Kathryn V; Ganske, Ingrid M; Rottgers, Stephen A; Lim, So Young; Mulliken, John B

    2018-03-01

    Infants with syndromic cleft lip and/or cleft palate (CL/P) often require more complex care than their nonsyndromic counterparts. Our purpose was to (1) determine the prevalence of CL/P in patients with CHARGE syndrome and (2) highlight factors that affect management in this subset of children. This is a retrospective review from 1998 to 2016. Patients with CHARGE syndrome were diagnosed clinically and genetically. Prevalence of CL/P was determined and clinical details tabulated: phenotypic anomalies, cleft types, operative treatment, and results of repair. CHARGE syndrome was confirmed in 44 patients: 11 (25%) had cleft lip and palate and 1 had cleft palate only. Surgical treatment followed our usual protocols. Two patients with cardiac anomalies had prolonged recovery following surgical correction, necessitating palatal closure prior to nasolabial repair. One of these patients was too old for dentofacial orthopedics and underwent combined premaxillary setback and palatoplasty, prior to labial closure. Velopharyngeal insufficiency was frequent (n = 3/7). All patients had feeding difficulty and required a gastrostomy tube. All patients had neurosensory hearing loss; anomalies of the semicircular canals were frequent (n = 3/4). External auricular anomalies, colobomas, and cardiovascular anomalies were also common (n = 8/11). Other associated anomalies were choanal atresia (n = 4/11) and tracheoesophageal fistula (n = 2/11). CHARGE syndrome is an under-recognized genetic cause of cleft lip and palate. Hearing loss and speech and feeding difficulties often occur in these infants. Diagnosis can be delayed if the child presents with covert phenotypic features, such as chorioretinal colobomas, semicircular canal hypoplasia, and unilateral choanal atresia.

  16. 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.

  17. Features of Polycystic Ovary Syndrome in adolescence.

    Science.gov (United States)

    Tsikouras, P; Spyros, L; Manav, B; Zervoudis, S; Poiana, C; Nikolaos, T; Petros, P; Dimitraki, M; Koukouli, C; Galazios, G; von Tempelhoff, G F

    2015-01-01

    To elucidate the prepubertal risk factors associated with the development of Polycystic Ovary Syndrome (PCOS) and determine the special clinical manifestations of the syndrome in this transitional time of a woman's life. To propose therapeutic targets and regimens, not only to prevent the long-term complications of the syndrome, but also to improve the self-esteem of a young girl who matures into womanhood. A systematic review of literature was performed through electronic database searches (Pubmed, Medline and Embase). Studies published in English-language, peer-reviewed journals from 1996 to 2013 were included. The selected studies focused on the risk factors, the unique features and treatment options of the PCOS in puberty. The pathogenesis of the PCOS was hypothesized to be based on interactions between genetic and certain environmental factors. The diagnosis was usually difficult in young girls. The syndrome was related to a greater risk of future infertility, type II diabetes mellitus, the metabolic syndrome and cardiovascular disease. Early treatment was crucial to prevent the long-term complications of the syndrome, especially infertility and cardiovascular disease. The recognition of the early signs of PCOS during or even before adolescence is of great importance. It is essential to establish the correct diagnosis for PCOS and rule out other causes of androgen excess in young women with hyperandrogenism. The type of treatment applied should be considered on an individual basis. PCOS = Polycystic Ovary Syndrome.

  18. 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.)

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

    Science.gov (United States)

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

    2003-03-01

    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.

  20. Spectrum of Features in Pterygium Syndrome

    Directory of Open Access Journals (Sweden)

    Sanjay Y. Parashar

    2006-04-01

    Full Text Available Pterygium syndrome is a complex and rare congenital deformity that consists of contractures involving multiple flexural surfaces and associated craniofacial anomalies. It often has associated conditions, including anomalies of the cardiovascular, respiratory, gastrointestinal and genitourinary systems. It may present in different forms, including multiple pterygium syndrome of Escobar, lethal multiple pterygium syndrome, popliteal pterygium syndrome, lethal popliteal syndrome (Bartsocas-Papas syndrome and arthrogryposis multiplex congenita. The clinical presentation, multidisciplinary management and the long-term outcome in three patients with this condition are presented.

  1. 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...

  2. 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.

  3. Dentofacial injuries in commercial motorcycle accidents in Cameroon

    African Journals Online (AJOL)

    Methods: This was a hospital based study conducted in 6 out of 10 regional ... large portion of road traffic accidents in developing ... networks, unplanned urban transportation with the ... This study was of 387 cases of dentofacial injuries at-.

  4. Dentofacial injuries in contact sports in Yaounde, Cameroon

    OpenAIRE

    M A Agbor; C C Azodo; N. E. F. Ngagoue

    2012-01-01

    Background: Dentofacial injuries constitute serious problems among competitive and recreational athletes, worldwide. Objective: To determine the prevalence of dentofacial injuries and related factors among individuals participating in contact sports in Yaoundé, Cameroon. Materials and Methods: This cross-sectional study among individuals participating in karate, judo, basketball, handball, football and wrestling in Yaoundé, Cameroon was conducted between January and April, 2012. Results: Of t...

  5. Clinical features of the exploding head syndrome.

    Science.gov (United States)

    Pearce, J M

    1989-07-01

    Fifty patients suffering from the "exploding head syndrome" are described. This hitherto unreported syndrome is characterised by a sense of an explosive noise in the head usually in the twilight stage of sleep. The associated symptoms are varied, but the benign nature of the condition is emphasised and neither extensive investigation nor treatment are indicated.

  6. Clinical features of the exploding head syndrome.

    OpenAIRE

    Pearce, J M

    1989-01-01

    Fifty patients suffering from the "exploding head syndrome" are described. This hitherto unreported syndrome is characterised by a sense of an explosive noise in the head usually in the twilight stage of sleep. The associated symptoms are varied, but the benign nature of the condition is emphasised and neither extensive investigation nor treatment are indicated.

  7. Radiological features of familial Gorlin-Goltz syndrome.

    Science.gov (United States)

    Hegde, Shruthi; Shetty, Shishir Ram

    2012-03-01

    Gorlin-Goltz syndrome is an autosomal dominant disorder principally characterized by cutaneous basal cell carcinomas, multiple keratocystic odontogenic tumors, and skeletal anomalies. This syndrome may be diagnosed early by dentist because keratocystic odontogenic tumors are usually one of the first manifestations of the syndrome. Early diagnosis and treatment are of utmost importance in reducing the severity of long term sequelae of this syndrome. This report presents a rare event of Gorlin-Goltz syndrome occurring in a 39-year-old male and his 8-year-old daughter. The clinical and investigative features of this familial disorder has been described in detail.

  8. Radiological features of familial Gorlin-Goltz syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Hegde, Shruthi; Shetty, Shishir Ram [AB Shetty Memorial Institute of Dental Sciences, Nitte University, Mangalore (India)

    2012-03-15

    Gorlin-Goltz syndrome is an autosomal dominant disorder principally characterized by cutaneous basal cell carcinomas, multiple keratocystic odontogenic tumors, and skeletal anomalies. This syndrome may be diagnosed early by dentist because keratocystic odontogenic tumors are usually one of the first manifestations of the syndrome. Early diagnosis and treatment are of utmost importance in reducing the severity of long term sequelae of this syndrome. This report presents a rare event of Gorlin-Goltz syndrome occurring in a 39-year-old male and his 8-year-old daughter. The clinical and investigative features of this familial disorder has been described in detail.

  9. Radiological features of familial Gorlin-Goltz syndrome

    International Nuclear Information System (INIS)

    Hegde, Shruthi; Shetty, Shishir Ram

    2012-01-01

    Gorlin-Goltz syndrome is an autosomal dominant disorder principally characterized by cutaneous basal cell carcinomas, multiple keratocystic odontogenic tumors, and skeletal anomalies. This syndrome may be diagnosed early by dentist because keratocystic odontogenic tumors are usually one of the first manifestations of the syndrome. Early diagnosis and treatment are of utmost importance in reducing the severity of long term sequelae of this syndrome. This report presents a rare event of Gorlin-Goltz syndrome occurring in a 39-year-old male and his 8-year-old daughter. The clinical and investigative features of this familial disorder has been described in detail.

  10. Schizotypy: Key feature of Klinefelter's syndrome?

    NARCIS (Netherlands)

    Verhoeven, W.M.A.; Egger, J.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. A

  11. Savant Syndrome: Clinical and Neuropsychological Features

    OpenAIRE

    Ibrahim Durukan; Tumer Turkbay

    2010-01-01

    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 o...

  12. Savant Syndrome: Clinical and Neuropsychological Features

    Directory of Open Access Journals (Sweden)

    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.

  13. 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.)

  14. Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome.

    OpenAIRE

    Cross, J. H.; Arora, R.; Heckemann, R. A.; Gunny, R.; Chong, K.; Carr, L.; Baldeweg, T.; Differ, A. M.; Lench, N.; Varadkar, S.; Sirimanna, T.; Wassmer, E.; Hulton, S. A.; Ognjanovic, M.; Ramesh, V.

    2013-01-01

    Recently, we reported a previously unrecognized symptom constellation comprising epilepsy, ataxia, sensorineural deafness, and tubulopathy (EAST syndrome) associated with recessive mutations in the KCNJ10 gene. Here, we provide a detailed characterization of the clinical features of the syndrome to aid patient management with respect to diagnosis, prognostic counselling, and identification of best treatment modalities.

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

    Energy Technology Data Exchange (ETDEWEB)

    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.

  16. 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.

  17. 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.

  18. [Gender features of low back pain syndromes].

    Science.gov (United States)

    Moseĭkin, I A; Goĭdenko, V S; Aleksandrov, V I; Rudenko, I V; Borzunova, T A; Barashkov, G N

    2010-01-01

    Forty-four patients with low back pain caused by a radix syndrome (mean age 46.18±9.11 years) have been examined. Patients have been stratified by sex. The pain syndrome has been assessed in 1st, 10th and 21st by the VAS, pressure pain measurement and laboratory tests for measuring neurotransmitter levels. It has been shown that women endure a pain worse as assessed not only by the questionnaires but also by the pressure pain measurement especially at night. The analysis of blood serum revealed higher levels of β-endorphin, serotonin, dopamine that were correlated (р<0.05) with the pain level, their amount decreasing with the reduction of pain.

  19. 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

  20. 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…

  1. 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

  2. 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.)

  3. 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.)

  4. 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.

  5. Cardiometabolic features of polycystic ovary syndrome.

    Science.gov (United States)

    Hoffman, Leslie K; Ehrmann, David A

    2008-04-01

    Polycystic ovary syndrome (PCOS) is a complex disorder comprising both hormonal and metabolic abnormalities that include impaired glucose tolerance, type 2 diabetes, vascular disease, dyslipidemia, and obstructive sleep apnea. Insulin resistance is a central pathogenetic factor in PCOS that seems to result from a post-receptor-binding defect in insulin action. Insulin resistance and the consequent development of hyperinsulinemia contribute to the constellation of cardiometabolic abnormalities noted above. Although there is a paucity of data in regard to cardiovascular event rates and mortality in PCOS, an increased prevalence of cardiovascular risk factors has been well documented. Attention to the metabolic risks associated with PCOS, starting as early as adolescence, is essential to the medical care of these patients.

  6. 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, ...

  7. 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 ...

  8. 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.

  9. [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.

  10. 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.

  11. 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

  12. Clinical features and respiratory complications in Myhre syndrome

    NARCIS (Netherlands)

    McGowan, Ruth; Gulati, Ramkumar; McHenry, Pamela; Cooke, Alexander; Butler, Sandra; Keng, Wee Teik; Murday, Victoria; Whiteford, Margo; Dikkers, Frederik G.; Sikkema-Raddatz, Brigit; van Essen, Ton; Tolmie, John

    2011-01-01

    We describe the clinical characteristics of 4 singleton cases, 3 males and 1 female, with Myhre Syndrome (OMIM 139210), who were born to non-consanguineous parents. Three cases had no family history of similarly affected individuals but 1 male's mother had short stature, some facial features

  13. Tourette Syndrome and Associated Features and the School Aged Child.

    Science.gov (United States)

    Willis, Christopher

    Tourette Syndrome (TS) is described as a genetically based, chronic constellation of neurobehavioral symptoms and associated features involving repetitive, simple, and/or complex motor and phonic tics. Treatment generally involves neuroleptic medication. Symptoms of obsessive-compulsive disorder, attention deficit hyperactive disorder, learning…

  14. 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.

  15. 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

  16. 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.

  17. Brachydactyly E: isolated or as a feature of a syndrome.

    Science.gov (United States)

    Pereda, Arrate; Garin, Intza; Garcia-Barcina, Maria; Gener, Blanca; Beristain, Elena; Ibañez, Ane Miren; Perez de Nanclares, Guiomar

    2013-09-12

    Brachydactyly (BD) refers to the shortening of the hands, feet or both. There are different types of BD; among them, type E (BDE) is a rare type that can present as an isolated feature or as part of more complex syndromes, such as: pseudohypopthyroidism (PHP), hypertension with BD or Bilginturan BD (HTNB), BD with mental retardation (BDMR) or BDE with short stature, PTHLH type. Each syndrome has characteristic patterns of skeletal involvement. However, brachydactyly is not a constant feature and shows a high degree of phenotypic variability. In addition, there are other syndromes that can be misdiagnosed as brachydactyly type E, some of which will also be discussed. The objective of this review is to describe some of the syndromes in which BDE is present, focusing on clinical, biochemical and genetic characteristics as features of differential diagnoses, with the aim of establishing an algorithm for their differential diagnosis. As in our experience many of these patients are recruited at Endocrinology and/or Pediatric Endocrinology Services due to their short stature, we have focused the algorithm in those steps that could mainly help these professionals.

  18. 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

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

    Science.gov (United States)

    Devanna, Raghu; Kakkirala, Neelima

    2010-04-01

    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.

  20. 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.

  1. 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.

  2. 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.

  3. Clinicopathological Features and Management of Cancers in Lynch Syndrome

    Directory of Open Access Journals (Sweden)

    Markku Aarnio

    2012-01-01

    Full Text Available Lynch syndrome (LS is characterized by an autosomal dominant inheritance of the early onset of colorectal cancer (CRC and endometrial cancer, as well as increased risk for several other cancers including gastric, urinary tract, ovarian, small bowel, biliary tract, and brain tumors. The syndrome is due to a mutation in one of the four DNA mismatch repair (MMR genes MLH1, MSH2, MSH6, or PMS2. The majority of LS patients and families can now be identified, and the underlying mutation detected using genetic diagnostics. Regular surveillance for CRC and endometrial cancer has proved beneficial for mutation carriers. However, screening for other tumors is also recommended even though experiences in the screening of these tumors is limited. Prophylactic colectomy, prophylactic hysterectomy, and bilateral salpingo-oophorectomy may be reasonable options for selected patients with LS. This paper describes the features and management of LS.

  4. Noonan syndrome: clinical features, diagnosis, and management guidelines.

    Science.gov (United States)

    Romano, Alicia A; Allanson, Judith E; Dahlgren, Jovanna; Gelb, Bruce D; Hall, Bryan; Pierpont, Mary Ella; Roberts, Amy E; Robinson, Wanda; Takemoto, Clifford M; Noonan, Jacqueline A

    2010-10-01

    Noonan syndrome (NS) is a common, clinically and genetically heterogeneous condition characterized by distinctive facial features, short stature, chest deformity, congenital heart disease, and other comorbidities. Gene mutations identified in individuals with the NS phenotype are involved in the Ras/MAPK (mitogen-activated protein kinase) signal transduction pathway and currently explain ∼61% of NS cases. Thus, NS frequently remains a clinical diagnosis. Because of the variability in presentation and the need for multidisciplinary care, it is essential that the condition be identified and managed comprehensively. The Noonan Syndrome Support Group (NSSG) is a nonprofit organization committed to providing support, current information, and understanding to those affected by NS. The NSSG convened a conference of health care providers, all involved in various aspects of NS, to develop these guidelines for use by pediatricians in the diagnosis and management of individuals with NS and to provide updated genetic findings.

  5. 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.

  6. 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.

  7. Diagnostic features of polycystic ovary syndrome in adolescents (review).

    Science.gov (United States)

    Beltadze, K; Barbakadze, L

    2015-01-01

    The problem of Polycystic Ovary Syndrome (PCOS) is of a special importance due to its connection with not only medical but with psychosocial factors. PCOS is the most common endocrine cause of anovulatory infertility. It is a major factor for the metabolic syndrome, cardiovascular disease, type 2 diabetes mellitus (T2DM). Clinical symptoms of PCOS such as acne, hirsutism, obesity, alopecia represent psychological problem, especially for the adolescents. Many women who have PCOS have the onset of symptoms during adolescence. Early diagnosis and treatment of PCOS are important for preventing of the above mentioned long-term consequences associated with this condition. Adolescent patients often have diagnostic problems because the features of normal puberty are similar with symptoms of PCOS. This article reviews the diagnostic and differential diagnostic characteristics of PCOS in adolescents. In conclusion, consensus statement in adolescent patients is still awaiting. Our data suggest that it may be prudent to define adolescent PCOS according to the Carmina modified Rotterdam criteria. The increase rate of metabolic syndrome in adolescents with PCOS emphasize the importance of regular screening due to the high cardiometabolic disorders risk.

  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. 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. PMID:29042737

  11. 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

    2018-08-01

    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.

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

    Energy Technology Data Exchange (ETDEWEB)

    Ho, Wan-Ling; Wang, Jou-Kou [Department of Pediatrics, National Taiwan University Hospital, Taipei (Taiwan); Li, Yiu-Wah [Department of Radiology, National Taiwan University Hospital, Taipei (Taiwan)

    2003-03-01

    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.)

  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. 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.

  15. Clinicopathological features of primary aldosteronism associated with subclinical Cushing's syndrome

    International Nuclear Information System (INIS)

    Hiraishi, Kiichiro; Yoshimoto, Takanobu; Tsuchiya, Kyoichiro; Minami, Isao; Doi, Masaru; Izumiyama, Hajime; Hirata, Yukio; Sasano, Hironobu

    2011-01-01

    Primary aldosteronism (PA), an autonomous aldosterone hypersecretion from adrenal adenoma and/or hyperplasia, and subclinical Cushing syndrome (SCS), a mild but autonomous cortisol hypersecretion from adrenal adenoma without signs or symptoms of Cuhing's syndrome, are now well-recognized clinical entities of adrenal incidentaloma. However, the clinicopathological features of PA associated with SCS (PA/SCS) remain unknown. The present study was undertaken to study the prevalence of PA/SCS among PA patients diagnosed at our institute, and characterize their clinicopathlogical features. The prevalence of PA/SCS was 8 of 38 PA patients (21%) studied. These 8 PA/SCS patients were significantly older and had larger tumor, higher serum potassium levels, lower basal plasma levels of aldosterone, adrenocorticotropic hormone (ACTH) and dehydroepiandrosterone sulfate (DHEA-S) as well as lower response of aldosterone after ACTH stimulation than those in 12 patients with aldosterone-producing adenoma without hypercortisolism. All 8 PA/SCS patients showed unilateral uptake by adrenal scintigraphy at the ipsilateral side, whereas the laterality of aldosterone hypersecretion as determined by adrenal venous sampling varied from ipsilateral (3), contralateral (2), and bilateral side (2). 6 PA/SCS patients who underwent adrenalectomy required hydrocortisone replacement postoperatively. Histopathological analysis of the resected adrenal tumors from 5 PA/SCS patients revealed a single adenoma in 3, and double adenomas in 2, with varying degrees of positive immunoreactivities for steroidgenic enzymes 3β-hydroxysteroid dehydrogenase (HSD), P450 C17 ) by immunohistochemical study as well as CYP11B2 mRNA expression as measured by real-time radiotherapy-polymerase chain reaction (RT-PCR). In conclusion, PA/SCS consists of a variety of adrenal pathologies so that therapeutic approach differs depending on the disease subtype. (author)

  16. 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.

  17. Perinatal features of the RASopathies: Noonan syndrome, cardiofaciocutaneous syndrome and Costello syndrome.

    Science.gov (United States)

    Myers, Angela; Bernstein, Jonathan A; Brennan, Marie-Luise; Curry, Cynthia; Esplin, Edward D; Fisher, Jamie; Homeyer, Margaret; Manning, Melanie A; Muller, Eric A; Niemi, Anna-Kaisa; Seaver, Laurie H; Hintz, Susan R; Hudgins, Louanne

    2014-11-01

    The RASopathies are a family of developmental disorders caused by heritable defects of the RAS/MAPK signaling pathway. While the postnatal presentation of this group of disorders is well known, the prenatal and neonatal findings are less widely recognized. We report on the perinatal presentation of 10 patients with Noonan syndrome (NS), nine with Cardiofaciocutaneous syndrome (CFCS) and three with Costello syndrome (CS), in conjunction with the results of a comprehensive literature review. The majority of perinatal findings in NS, CS, and CFCS are shared: polyhydramnios; prematurity; lymphatic dysplasia; macrosomia; relative macrocephaly; respiratory distress; hypotonia, as well as cardiac and renal anomalies. In contrast, fetal arrhythmia and neonatal hypoglycemia are relatively specific to CS. NS, CS, and CFCS should all be considered as a possible diagnosis in pregnancies with a normal karyotype and ultrasound findings of a RASopathy. Recognition of the common perinatal findings of these disorders should facilitate both their prenatal and neonatal diagnosis. © 2014 Wiley Periodicals, Inc.

  18. 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.

  19. [Features of metabolic syndrome in patients with depressive disorder].

    Science.gov (United States)

    Zeman, M; Jirák, R; Zák, A; Jáchymová, M; Vecka, M; Tvrzická, E; Vávrová, L; Kodydková, J; Stanková, B

    2009-01-01

    Depressive disorder is a serious illness with a high incidence, proxime accessit after anxiety disorders among the psychiatric diseases. It is accompanied by an increased risk of development of type 2 diabetes mellitus, cardiovascular disease, and by increased all-cause mortality. Recently published data have suggested that factors connected with the insulin resistance are at the background of this association. In this pilot study we have investigated parameters of lipid metabolism and glucose homeostasis in consecutively admitted patients suffering from depressive disorder (DD) (group of 42 people), in 57 patients with the metabolic syndrome (MetS) and in a control group of 49 apparently healthy persons (CON). Depressive patients did not differ from the control group by age or body mass index (BMI) value, but they had statistically significantly higher concentrations of serum insulin, C-peptide, glucose, triglycerides (TG), conjugated dienes in LDL particles (CD-LDL), higher value of microalbuminuria and of insulin resistance (HOMA-IR) index. They simultaneously had significantly lower value of the insulin sensitivity (QUICKI) index. In comparison with the MetS group the depressive patients were characterized by significantly lower both systolic and diastolic blood pressure, BMI , serum TG, apolipoprotein B, uric acid, C-peptide and by higher concentrations of apolipoprotein A-I and HDL-cholesterol. On the contrary, we have not found statistically significant differences between the DD and MetS groups in the concentrations of serum insulin, glucose, HOMA and QUICKI indices, in CD-LDL and MAU. In this pilot study, we have found in patients with depressive disorder certain features of metabolic syndrome, especially insulin resistance and oxidative stress.

  20. Dentofacial transverse development in Koreans according to skeletal maturation: A cross-sectional study.

    Science.gov (United States)

    Hwang, Soonshin; Noh, Yoonjeong; Choi, Yoon Jeong; Chung, Chooryung; Lee, Hye Sun; Kim, Kyung-Ho

    2018-01-01

    The aim of this study was to establish the normative data of dentofacial transverse dimensions according to the skeletal maturation stage in Korean adolescents with good occlusion, assess gender differences and determine correlations between transverse variables. A total of 577 Korean subjects between ages 7 to 19 years and exhibiting skeletal Class I occlusion were categorized by skeletal maturation index (SMI) of Fishman using hand-wrist radiographs. Dentofacial transverse dimensions were assessed using posteroanterior cephalograms. Independent two-sample t -tests were used to analyze differences between genders. Pearson correlation coefficient was used to determine the correlation between transverse measurements. Dentofacial transverse norms relevant to skeletal maturation stages were established. The average maxillomandibular width difference and ratio at growth completion was 22.16 mm and 77.01% for males; 23.70 mm and 74.06% for females, respectively. Males had greater facial, maxillary and mandibular widths compared to females at every SMI stage. The maxillary and mandibular intermolar widths showed the strongest correlation for both sexes (r = 0.826 for males, r = 0.725 for females). Dentofacial transverse norms of Korean adolescents were established according to developmental stage. All dentofacial widths were greater in males at growth completion. Maxillary and mandibular intermolar widths were strongly correlated. This study may serve as a guideline for the assessment of dentofacial transverse growth according to skeletal maturation stage in Korean adolescents with good occlusion.

  1. Clinical features and prognostic factors of Churg-Strauss syndrome.

    Science.gov (United States)

    Kim, Mi-Yeong; Sohn, Kyoung-Hee; Song, Woo-Jung; Park, Heung-Woo; Cho, Sang-Heon; Min, Kyung-Up; Kang, Hye-Ryun

    2014-01-01

    Churg-Strauss syndrome (CSS) is a rare systemic necrotizing small-vessel vasculitis, with accompanying bronchial asthma, eosinophilia, and eosinophilic infiltration of various tissues. The purposes of our study were to characterize the clinical features of CSS and to identify factors associated with CSS prognosis in Koreans. Medical records were reviewed retrospectively for all physician-diagnosed CSS patients in the Seoul National University Hospital between January 1990 and March 2011. Data from 52 CSS patients were analyzed. The respiratory tract was the most commonly involved organ (90.4%). Renal involvement was less frequent in antineutrophilic cytoplasmic antibody (ANCA)(-) patients than in ANCA(+) patients (p = 0.048). Clinical remission occurred in 95.3% of patients, but 16.3% of them relapsed. Patients who maintained remission for more than 6 months were relatively older (median, 51 years) at diagnosis (p = 0.004), had been diagnosed in earlier stages (p = 0.027), showed more frequent respiratory involvement (p = 0.024) and generalized symptoms (p = 0.039), and showed less frequent cutaneous involvement (p = 0.030) than those who did not achieve persistent (> 6 months) remission. Patients who achieved persistent remission also showed higher C-reactive protein (CRP) levels (p = 0.031) than those who did not. ANCA(-) CSS patients showed less frequent renal involvement. Characteristics of good responders were older age, diagnosis at earlier stages, less cutaneous involvement, more respiratory involvement, high CRP values, and more generalized symptoms.

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

    Energy Technology Data Exchange (ETDEWEB)

    Narvaez, J.A.; Majos, C.; Valls, C.; Fernandez-Cabrera, L. [Department of CT and MR Imaging, Ciudad Sanitaria y Universitaria de Bellvitge, Barcelona (Spain); Narvaez, J. [Department of Rheumatology, Hospital Princeps d`Espanya, L`Hospitalet de Llobregat, Barcelona (Spain)

    1998-02-01

    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.) With 3 figs., 8 refs.

  3. 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.)

  4. Features of ovarian cancer in Lynch syndrome (Review).

    Science.gov (United States)

    Nakamura, Kanako; Banno, Kouji; Yanokura, Megumi; Iida, Miho; Adachi, Masataka; Masuda, Kenta; Ueki, Arisa; Kobayashi, Yusuke; Nomura, Hiroyuki; Hirasawa, Akira; Tominaga, Eiichiro; Aoki, Daisuke

    2014-11-01

    Lynch syndrome is a hereditary ovarian cancer with a prevalence of 0.9-2.7%. Lynch syndrome accounts for 10-15% of hereditary ovarian cancers, while hereditary breast and ovarian cancer syndrome accounts for 65-75% of these cancers. The lifetime risk for ovarian cancer in families with Lynch syndrome is ~8%, which is lower than colorectal and endometrial cancers, and ovarian cancer is not listed in the Amsterdam Criteria II. More than half of sporadic ovarian cancers are diagnosed in stage III or IV, but ≥80% of ovarian cancers in Lynch syndrome are diagnosed in stage I or II. Ovarian cancers in Lynch syndrome mostly have non-serous histology and different properties from those of sporadic ovarian cancers. A screening method for ovarian cancers in Lynch syndrome has yet to be established and clinical studies of prophylactic administration of oral contraceptives are not available. However, molecular profiles at the genetic level indicate that ovarian cancer in Lynch syndrome has a more favorable prognosis than sporadic ovarian cancer. Inhibitors of the phosphatidylinositol 3-kinase/mammalian target of the rapamycin pathway and anti-epidermal growth factor antibodies may have efficacy for the disease. To the best of our knowledge, this is the first review focusing on ovarian cancer in Lynch syndrome.

  5. Schnitzler's syndrome: an unusual cause of bone pain with suggestive nuclear imaging features

    International Nuclear Information System (INIS)

    Raedt, N. de; Mortelmans, L.

    2009-01-01

    Schnitzler's syndrome is a rare inflammatory disorder characterised by chronic urticarial rash and monoclonal IgM gammopathy accompanied by at least two of the following features: fever, arthralgia or arthritis, bone pain, lymphadenopathy, hepato- or splenomegaly, leucocytosis and elevated sedimentation. The association of these clinical and biological features with radiographic and bone scan findings are suggestive of the disease. The case of a 37-year-old man presenting with Schnitzler's syndrome, emphasizing nuclear imaging features is reported here. (N.C.)

  6. [Features of the periodontal pathology at patients with metabolic syndrome].

    Science.gov (United States)

    Ermolaeva, L A; Shishkin, A N; Sheveleva, N A; Penkovoi, E A; Sheveleva, M A; Sokolovich, N A; Khabarova, O V; Mihailova, E S

    2016-01-01

    The purpose of this article is to familiarize readers on the relationship between metabolic syndrome and periodontitis, as well as common pathogenetic processes underlying these diseases. The data of modern researches, devoted to the correlation of lesions of periodontal and systemic diseases associated with metabolic syndrome. In the article analyzed also the data of the original study of the interaction of periodontitis and metabolic syndrome, which also used special methods of examination like Doppler ultrasound microcirculatory vasculature of the periodontal tissues and ultrasound densitometry. The possible methods of diagnostics of a condition of periodontal tissues in patients with metabolic syndrome are considered. Conclusions about the relationship of each component of metabolic syndrome with periodontitis are made.

  7. Features of systemic sclerosis-rheumatoid arthritis overlap syndrome (SS-RA overlap syndrome

    Directory of Open Access Journals (Sweden)

    O. V. Desinova

    2007-01-01

    Full Text Available Objective. To reveal clinico-laboratory, immunologic and immunogenetic features of systemic sclerosis-rheumatoid arthritis overlap syndrome (SS-RA.Material and methods. 32 pts with SS-RA (1 male, 31 female aged 22 to 74 years with disease onset at 18 to 69 years and disease duration from 1 to 35 years were included. Complex laboratory and instrumental examination was performed including nailfold capillaroscopy. A part of pts was also evaluated with magnetic resonance imaging of hands. Serum level of rheumatoid factor, antinuclear factor, circulating immune complexes, C-reactive protein, antibodies to cyclic citrullinated peptide (ACCP was evaluated. Genotyping of DRB1 alleles was performed.Results. Characteristic features of SS-RA were prevalence of limited skin damage, less prominent peripheral and visceral symptoms of SS, presence of anti-topoisomerase antibodies and erosive arthritis, high laboratory and immunological activity, more frequent association with DRB1*01.Conclusion. SS-RA possesses its own clinical features and can be considered as a distinct subtype of SS.

  8. [Usher syndrome: clinical features, diagnostic options, and therapeutic prospects].

    Science.gov (United States)

    Seeliger, M W; Fischer, M D; Pfister, M

    2009-06-01

    Usher syndrome denotes a clinically and genetically heterogeneous combination of retinitis pigmentosa and sensorineural deafness. The division into subtypes I, II, and III is based on the degree of hearing loss: Type I is characterized by deafness from birth together with ataxia and retarded motor development, type II by a stationary deafness of a moderate degree, and type III by a progressive deafness with adult onset. In Germany, Usher syndrome currently bears particular relevance because in January 2009 a new compulsory screening of auditory function in newborn infants was introduced. Consequently, it can be expected that a higher number of patients with Usher syndrome will be identified in early childhood and referred to ophthalmologists. The focus of this work is to introduce the typical clinical picture of Usher syndrome, summarize diagnostic options, and give an overview of therapeutic strategies.

  9. 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.

  10. 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.

  11. The Noonan Syndrome--A Review of the Clinical and Genetic Features of 27 Cases

    Science.gov (United States)

    Collins, Edith; Turner, Gillian

    1973-01-01

    Reviewed were clinical and genetic features of 27 cases of the Noonan Syndrome, a condition with characteristics such as webbing of the neck, short stature, frequent congential heart lesions, and chromosomal irregularities. (DB)

  12. Inclinação de cabeça durante a mastigação habitual nas deformidades dentofaciais classe II e III Head inclination during habitual chewing in the presence of class II and III dentofacial deformities

    Directory of Open Access Journals (Sweden)

    Marcela Ralin de Carvalho Deda

    2011-04-01

    Full Text Available OBJETIVO: este estudo investiga a diferença entre grupos com deformidade dentofacial (padrão classe II e classe III, em relação à preferência mastigatória referida e inclinação de cabeça durante a mastigação, assim como predomínio intra-grupo de cada um desses aspectos, comparativamente a um grupo controle. MÉTODOS: participaram deste estudo, voluntariamente, 25 pacientes (entre 18 e 35 anos. Doze pacientes com diagnóstico de deformidade dentofacial classe II e 13 pacientes com o diagnóstico de classe III esquelética e 10 voluntários, com equivalência em sexo e idade ao grupo de deformidade, formando o grupo controle. Os voluntários da pesquisa foram questionados sobre a existência de um lado de preferência mastigatória. Em seguida foram filmados durante a mastigação habitual de um biscoito maizena e através das imagens captadas, a postura de cabeça pôde ser analisada. RESULTADOS: não houve diferença entre os grupos em relação à preferência mastigatória referida, entretanto os grupos com deformidades dentofaciais apresentaram predomínio significativo de preferência mastigatória referida. Os grupos com deformidade dentofacial apresentaram maior predomínio de inclinação de cabeça durante a mastigação quando comparados ao grupo controle. CONCLUSÃO: indivíduos com deformidade dentofacial podem apresentar uma preferência mastigatória e alteração de postura de cabeça durante a mastigação.PURPOSE: the study was conducted in order to investigate the difference among groups with class II and class III dentofacial deformities regarding reported chewing side preference and head inclination during chewing and to determine the intra-group predominance for these features when compared to a control group. METHODS: twenty-five volunteers aged from 15 to 34 years took part in the study, 12 of them with a diagnosis of class II dentofacial deformity, 13 with class III dentofacial deformity, and 10 control

  13. 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

  14. 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

  15. [SPECIFIC CLINICAL FEATURES OF TYPE 1 AUTOIMMUNE POLYGLANDULAR SYNDROME].

    Science.gov (United States)

    Mikhina, M S; Molashenko, N V; Troshina, E A; Orlova, E M; Sozaeva, L S; Eystein, S H; Breivik, S

    2015-01-01

    Autoimmune polyglandular syndrome is a primary autoimmune disorder affecting two or more peripheral endocrine glands and responsible for their incompetence. It is frequently combined with various organ-specific non-endocrine diseases. Patients with this pathology need life-long replacement therapy and dynamic observation by endocrinologists and other specialists to monitor the effectiveness of the treatment and detect new components of the disease. We report a variant of type 1 autoimmune polyglandular syndrome. Special emphasis is laid on the importance of succession of actions of endocrinologists and specialists in related medical disciplines dealing with children and adult patients.

  16. 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.

  17. 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...

  18. 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 EEG...... features of absence seizures. Methods: Children with untreated absence seizures were studied using video-EEG recording. The influence of state of arousal, provocation (hyperventilation, photic stimulation), age, and epilepsy syndrome on specific EEG features was analyzed. Results: Five hundred nine...... seizures were evaluated in 70 children with the following syndromes: childhood absence epilepsy (CAE) 37, CAE+ photoparoxysmal response (PPR) 10, juvenile absence epilepsy (JAE) 8, juvenile myoclonic epilepsy (JME) 6, and unclassified 9. Polyspikes occurred in all syndromes but were more common in JME...

  19. 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.

  20. Radiologic features of the solitary rectal ulcer syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Castagnone, D.; Ranzi, T.; Velio, P.; Polli, E.E.; Bianchi, P.

    1984-05-01

    A radiologic study of 4 biopsy-proven cases of the solitary rectal ulcer (S.R.U.) syndrome was undertaken. The radiologic findings of S.R.U. were rectal stenosis (one with ulcer), polypoid rectal mass, and multiple sub-mucosal defects with shallow ulcers. The S.R.U., which is benign and requires only dietetic treatment, must be differentiated from other more serious entities such as neoplastic and inflammatory bowel disease.

  1. 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)

  2. Cardiometabolic Features of Polycystic Ovary Syndrome: Role of Androgens.

    Science.gov (United States)

    Yanes Cardozo, Licy L; Romero, Damian G; Reckelhoff, Jane F

    2017-09-01

    Polycystic ovary syndrome (PCOS) is the most common endocrine disorder that affects reproductive-age women. Hyperandrogenemia is present in a significant fraction (~80%) of women with PCOS. Increased prevalence of cardiometabolic risk factors is frequently observed in PCOS women. The present review aims to highlight the key role of androgens in mediating the negative cardiometabolic profile observed in PCOS women. Copyright © 2017 the American Physiological Society.

  3. 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.

  4. A Diagnosis to Consider in an Adult Patient with Facial Features and Intellectual Disability: Williams Syndrome.

    Science.gov (United States)

    Doğan, Özlem Akgün; Şimşek Kiper, Pelin Özlem; Utine, Gülen Eda; Alikaşifoğlu, Mehmet; Boduroğlu, Koray

    2017-03-01

    Williams syndrome (OMIM #194050) is a rare, well-recognized, multisystemic genetic condition affecting approximately 1/7,500 individuals. There are no marked regional differences in the incidence of Williams syndrome. The syndrome is caused by a hemizygous deletion of approximately 28 genes, including ELN on chromosome 7q11.2. Prenatal-onset growth retardation, distinct facial appearance, cardiovascular abnormalities, and unique hypersocial behavior are among the most common clinical features. Here, we report the case of a patient referred to us with distinct facial features and intellectual disability, who was diagnosed with Williams syndrome at the age of 37 years. Our aim is to increase awareness regarding the diagnostic features and complications of this recognizable syndrome among adult health care providers. Williams syndrome is usually diagnosed during infancy or childhood, but in the absence of classical findings, such as cardiovascular anomalies, hypercalcemia, and cognitive impairment, the diagnosis could be delayed. Due to the multisystemic and progressive nature of the syndrome, accurate diagnosis is critical for appropriate care and screening for the associated morbidities that may affect the patient's health and well-being.

  5. Application of Multilabel Learning Using the Relevant Feature for Each Label in Chronic Gastritis Syndrome Diagnosis

    Science.gov (United States)

    Liu, Guo-Ping; Yan, Jian-Jun; Wang, Yi-Qin; Fu, Jing-Jing; Xu, Zhao-Xia; Guo, Rui; Qian, Peng

    2012-01-01

    Background. In Traditional Chinese Medicine (TCM), most of the algorithms are used to solve problems of syndrome diagnosis that only focus on one syndrome, that is, single label learning. However, in clinical practice, patients may simultaneously have more than one syndrome, which has its own symptoms (signs). Methods. We employed a multilabel learning using the relevant feature for each label (REAL) algorithm to construct a syndrome diagnostic model for chronic gastritis (CG) in TCM. REAL combines feature selection methods to select the significant symptoms (signs) of CG. The method was tested on 919 patients using the standard scale. Results. The highest prediction accuracy was achieved when 20 features were selected. The features selected with the information gain were more consistent with the TCM theory. The lowest average accuracy was 54% using multi-label neural networks (BP-MLL), whereas the highest was 82% using REAL for constructing the diagnostic model. For coverage, hamming loss, and ranking loss, the values obtained using the REAL algorithm were the lowest at 0.160, 0.142, and 0.177, respectively. Conclusion. REAL extracts the relevant symptoms (signs) for each syndrome and improves its recognition accuracy. Moreover, the studies will provide a reference for constructing syndrome diagnostic models and guide clinical practice. PMID:22719781

  6. Application of Multilabel Learning Using the Relevant Feature for Each Label in Chronic Gastritis Syndrome Diagnosis

    Directory of Open Access Journals (Sweden)

    Guo-Ping Liu

    2012-01-01

    Full Text Available Background. In Traditional Chinese Medicine (TCM, most of the algorithms are used to solve problems of syndrome diagnosis that only focus on one syndrome, that is, single label learning. However, in clinical practice, patients may simultaneously have more than one syndrome, which has its own symptoms (signs. Methods. We employed a multilabel learning using the relevant feature for each label (REAL algorithm to construct a syndrome diagnostic model for chronic gastritis (CG in TCM. REAL combines feature selection methods to select the significant symptoms (signs of CG. The method was tested on 919 patients using the standard scale. Results. The highest prediction accuracy was achieved when 20 features were selected. The features selected with the information gain were more consistent with the TCM theory. The lowest average accuracy was 54% using multi-label neural networks (BP-MLL, whereas the highest was 82% using REAL for constructing the diagnostic model. For coverage, hamming loss, and ranking loss, the values obtained using the REAL algorithm were the lowest at 0.160, 0.142, and 0.177, respectively. Conclusion. REAL extracts the relevant symptoms (signs for each syndrome and improves its recognition accuracy. Moreover, the studies will provide a reference for constructing syndrome diagnostic models and guide clinical practice.

  7. 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.

  8. 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)

  9. Features of Acute Treatment of Bronchial Obstruction Syndrome in Infants

    Directory of Open Access Journals (Sweden)

    Ye.N. Okhotnikova

    2012-04-01

    Full Text Available The paper is devoted to a problem of bronchial obstruction in infants. There have been considered the pathogenesis of this pathology, its clinical manifestation and complications, features of treatment focusing on combined therapy use (medication Berodual containing β2-agonist of fenoterol hydrobromide and anticholinergic drug ipratropium bromide.

  10. 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…

  11. Clinical features and endocrine profile of Laron syndrome in Indian children

    OpenAIRE

    Supriya R Phanse-Gupte; Vaman V Khadilkar; Anuradha V Khadilkar

    2014-01-01

    Introduction: Patients with growth hormone (GH) insensitivity (also known as Laron syndome) have been reported from the Mediterranean region and Southern Eucador, with few case reports from India. We present here the clinical and endocrine profile of 9 children with Laron syndrome from India. Material and Methods: Nine children diagnosed with Laron syndrome based on clinical features of GH deficiency and biochemical profile suggestive of GH resistance were studied over a period of 5 years fro...

  12. Gastric tumours in hereditary cancer syndromes: clinical features, molecular biology and strategies for prevention.

    Science.gov (United States)

    Sereno, María; Aguayo, Cristina; Guillén Ponce, Carmen; Gómez-Raposo, César; Zambrana, Francisco; Gómez-López, Miriam; Casado, Enrique

    2011-09-01

    Gastric cancer is the major cause of cancer-related deaths worldwide. The majority of them are classified as sporadic, whereas the remaining 10% exhibit familial clustering. Hereditary diffuse gastric cancer (HDGC) syndrome is the most important condition that leads to hereditary gastric cancer. However, other hereditary cancer syndromes, such as hereditary non-polyposis colorectal cancer, familial adenomatous polyposis, Peutz-Jeghers syndrome, Li-Fraumeni syndrome and hereditary breast and ovarian cancer, entail a higher risk compared to the general population for developing this kind of neoplasia. In this review, we describe briefly the most important aspects related to clinical features, molecular biology and strategies for prevention in hereditary gastric associated to different cancer syndromes.

  13. 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.

  14. 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...

  15. 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)

  16. 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.

  17. 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.

  18. 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

  19. 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.

  20. 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,

  1. 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...

  2. [Clinical features of a Chinese pedigree with Waardenburg syndrome type 2].

    Science.gov (United States)

    Yang, Shu-zhi; Yuan, Hui-jun; Bai, Lin-na; Cao, Ju-yang; Xu, Ye; Shen, Wei-dong; Ji, Fei; Yang, Wei-yan

    2005-10-12

    To investigate detailed clinical features of a Chinese pedigree with Waardenburg syndrome type 2. Members of this pedigree were interviewed to identify personal or family medical histories of hearing loss, the use of aminoglycosides, and other clinical abnormalities by filling questionnaire. The audiological and other clinical evaluations of the proband and other members of this family were conducted, including pure-tone audiometry, immittance and auditory brain-stem response and ophthalmological, dermatologic, hair, temporal bone CT examinations. This family is categorized as Waardenburg syndrome type 2 according to its clinical features. It's an autosomal dominant disorder with incomplete penetrance. The clinical features varied greatly among family members and characterized by sensorineural hearing loss, heterochromia irides, freckle on the face and premature gray hair. Hearing loss can be unilateral or bilateral, congenital or late onset in this family. This Chinese family has some unique clinical features comparing with the international diagnostic criteria for Waardenburg syndrome. This study may provide some evidences to amend the diagnostic criteria for Waardenburg syndrome in Chinese population.

  3. 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…

  4. 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...

  5. 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.

  6. 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.

  7. 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

  8. Seizures and EEG features in 74 patients with genetic-dysmorphic syndromes.

    Science.gov (United States)

    Alfei, Enrico; Raviglione, Federico; Franceschetti, Silvana; D'Arrigo, Stefano; Milani, Donatella; Selicorni, Angelo; Riva, Daria; Zuffardi, Orsetta; Pantaleoni, Chiara; Binelli, Simona

    2014-12-01

    Epilepsy is one of the most common findings in chromosome aberrations. Types of seizures and severity may significantly vary both between different conditions and within the same aberration. Hitherto specific seizures and EEG patterns are identified for only few syndromes. We studied 74 patients with defined genetic-dysmorphic syndromes with and without epilepsy in order to assess clinical and electroencephalographic features, to compare our observation with already described electro-clinical phenotypes, and to identify putative electroencephalographic and/or seizure characteristics useful to address the diagnosis. In our population, 10 patients had chromosomal disorders, 19 microdeletion or microduplication syndromes, and 32 monogenic syndromes. In the remaining 13, syndrome diagnosis was assessed on clinical grounds. Our study confirmed the high incidence of epilepsy in genetic-dysmorphic syndromes. Moreover, febrile seizures and neonatal seizures had a higher incidence compared to general population. In addition, more than one third of epileptic patients had drug-resistant epilepsy. EEG study revealed poor background organization in 42 patients, an excess of diffuse rhythmic activities in beta, alpha or theta frequency bands in 34, and epileptiform patterns in 36. EEG was completely normal only in 20 patients. No specific electro-clinical pattern was identified, except for inv-dup15, Angelman, and Rett syndromes. Nevertheless some specific conditions are described in detail, because of notable differences from what previously reported. Regarding the diagnostic role of EEG, we found that--even without any epileptiform pattern--the generation of excessive rhythmic activities in different frequency bandwidths might support the diagnosis of a genetic syndrome. © 2014 Wiley Periodicals, Inc.

  9. 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.

  10. Sjögren Syndrome Which Simulates Relapsing Remitting Multiple Sclerosis Clinical Features: Case Report

    Directory of Open Access Journals (Sweden)

    Haluk Gümüş

    2013-12-01

    Full Text Available Sjögren syndrome (SS is a chronic, inflammatory, autoimmune disease. It emerges as a dry mouth and eyes (sicca symptoms because, it fundamentally affects exocrine glands, frequently, salivary gland and lachrymal gland. Neurological involvement in Sjögren syndrome is observed in the approximately 20-25% of cases. 87% of the neurological involvements are peripheral nervous system involvement and around 13% of the neurological involvements are central nervous system involvement. Cerebral involvement represents heterogeneous features in terms of both localization (focal or diffuse and progress of the statement (acute, progressive or reversible. Affected central nervous system can show clinical and radiological signs similar to Multiple sclerosis (MS. In this paper, the case, which has a complaint of difficulty in walking and instability and MS like lesions in brain magnetic resonance imaging (MRI and is diagnosed as Sjögren syndrome by further research, is discussed

  11. 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.

  12. [Origin and morphological features of small supernumerary marker chromosomes in Turner syndrome].

    Science.gov (United States)

    Liu, Nan; Tong, Tong; Chen, Yue; Chen, Yanling; Cai, Chunquan

    2018-02-10

    OBJECTIVE To explore the origin and morphological features of small supernumerary marker chromosomes (sSMCs) in Turner syndrome. METHODS For 5 cases of Turner syndrome with a sSMC identified by conventional G-banding, dual-color fluorescence in situ hybridization (FISH) was applied to explore their origin and morphological features. RESULTS Among the 5 cases, 3 have derived from the X chromosome, which included 2 ring chromosomes and 1 centric minute. For the 2 sSMCs derived from the Y chromosome, 1 was ring or isodicentric chromosome, while the other was an isodicentric chromosome. CONCLUSION The sSMCs found in Turner syndrome have almost all derived from sex chromosomes. The majority of sSMCs derived from the X chromosome will form ring chromosomes, while a minority will form centric minute. While most sSMC derived from Y chromosome may exist as isodicentric chromosomes, and a small number may exist as rings. For Turner syndrome patients with sSMCs, dual-color FISH may be used to delineate their origins to facilitate genetic counseling and selection of clinical regime.

  13. A case of fetal valproate syndrome with new features expanding the phenotype

    International Nuclear Information System (INIS)

    Seidahmed, Mohammed Z.; Miqdad, Abeer M.; AlDohami, Hessa S.; Shareefi, Osama M.

    2009-01-01

    Fetal valproate syndrome (FVS) is a well-recognized constellation of dysmorphic features, and neurodevelopmental retardation that results from prenatal exposure to the anticonvulsant valproic acid. In this report, we describe a case with typical features of FVS. A 23-year-old lady with post-traumatic epilepsy controlled by sodium valproate (Depakene) 500 mg twice daily throughout pregnancy as monotherapy, gave birth to a female baby with facial features characteristic of FVS, and severe radial ray reduction. She also had wide-spaced nipples and short neck, features not described before. Sodium valproate, a widely used anticonvulsant and mood regulator, is a well-recognized teratogen that can result in severe limb deformities, craniosynostosis, neural tube defects and neurodevelopmental retardation. Therefore, we recommend that valproic acid must be avoided during pregnancy, as new generation of anticonvulsant drugs have emerged into the market. (author)

  14. Cardiovascular Disease and 10-Year Mortality in Postmenopausal Women with Clinical Features of Polycystic Ovary Syndrome.

    Science.gov (United States)

    Merz, C Noel Bairey; Shaw, Leslee J; Azziz, Ricardo; Stanczyk, Frank Z; Sopko, George; Braunstein, Glenn D; Kelsey, Sheryl F; Kip, Kevin E; Cooper-DeHoff, Rhonda M; Johnson, B Delia; Vaccarino, Viola; Reis, Steven E; Bittner, Vera; Hodgson, T Keta; Rogers, William; Pepine, Carl J

    2016-09-01

    Women with polycystic ovary syndrome (PCOS) have greater cardiac risk factor clustering but the link with mortality is incompletely described. To evaluate outcomes in 295 postmenopausal women enrolled in the National Institutes of Health-National Heart, Lung, and Blood Institute (NIH-NHLBI) sponsored Women's Ischemia Syndrome Evaluation (WISE) study according to clinical features of PCOS. A total of 25/295 (8%) women had clinical features of PCOS defined by a premenopausal history of irregular menses and current biochemical evidence of hyperandrogenemia, defined as the top quartile of androstenedione (≥701 pg/mL), testosterone (≥30.9 ng/dL), or free testosterone (≥4.5 pg/mL). Cox proportional hazard model estimated death (n = 80). Women with clinical features of PCOS had an earlier menopause (p = 0.01), were more often smokers (p PCOS (n = 270) (p = 0.85). PCOS was not a significant predictor (p = NS) in prognostic models including diabetes, waist circumference, hypertension, and angiographic CAD. From this longer-term follow up of a relatively small cohort of postmenopausal women with suspected ischemia, the prevalence of PCOS is similar to the general population, and clinical features of PCOS are not associated with CAD or mortality. These findings question whether identification of clinical features of PCOS in postmenopausal women who already have known cardiovascular disease provides any additional opportunity for risk factor intervention.

  15. Clinical features and endocrine profile of Laron syndrome in Indian children.

    Science.gov (United States)

    Phanse-Gupte, Supriya R; Khadilkar, Vaman V; Khadilkar, Anuradha V

    2014-11-01

    Patients with growth hormone (GH) insensitivity (also known as Laron syndome) have been reported from the Mediterranean region and Southern Eucador, with few case reports from India. We present here the clinical and endocrine profile of 9 children with Laron syndrome from India. Nine children diagnosed with Laron syndrome based on clinical features of GH deficiency and biochemical profile suggestive of GH resistance were studied over a period of 5 years from January 2008 to January 2013. Age of presentation was between 2.5-11.5 years. All children were considerably short on contemporary Indian charts with mean (SD) height Z score -5.2 (1.6). However, they were within ± 2 SD on Laron charts. No child was overweight [mean (SD) BMI Z score 0.92 (1.1)]. All children had characteristic facies of GH deficiency with an added feature of prominent eyes. Three boys had micropenis and 1 had unilateral undescended testis. All children had low IGF-1 (Laron syndrome should be suspected in children with clinical features of GH deficiency, high GH levels and low IGF-1/IGFBP-3. These children are in a state of GH resistance and need IGF-1 therapy.

  16. Atypical pattern of discriminating sound features in adults with Asperger syndrome as reflected by the mismatch negativity.

    Science.gov (United States)

    Kujala, T; Aho, E; Lepistö, T; Jansson-Verkasalo, E; Nieminen-von Wendt, T; von Wendt, L; Näätänen, R

    2007-04-01

    Asperger syndrome, which belongs to the autistic spectrum of disorders, is characterized by deficits of social interaction and abnormal perception, like hypo- or hypersensitivity in reacting to sounds and discriminating certain sound features. We determined auditory feature discrimination in adults with Asperger syndrome with the mismatch negativity (MMN), a neural response which is an index of cortical change detection. We recorded MMN for five different sound features (duration, frequency, intensity, location, and gap). Our results suggest hypersensitive auditory change detection in Asperger syndrome, as reflected in the enhanced MMN for deviant sounds with a gap or shorter duration, and speeded MMN elicitation for frequency changes.

  17. 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

  18. 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.

  19. 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

  20. 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.

  1. Typical Features of Amelogenesis Imperfecta in Two Patients with Bartter’s Syndrome

    Directory of Open Access Journals (Sweden)

    Hercílio Martelli-Júnior

    2012-12-01

    Full Text Available Background/Aims: Amelogenesis imperfecta (AI is due to many inherited defects of enamel formation that affect the quantity and quality of enamel, leading to delay in tooth eruption and cosmetic consequences. AI has been described in association with nephrocalcinosis, which is called the enamel-renal syndrome. The aim of this case report is to describe typical features of AI in 2 patients with Bartter’s syndrome (BS for the first time. Methods: -Eight patients with confirmed BS were systematically screened for dental abnormalities as part of protocol. Those with suggestive clinical features of AI were submitted to panoramic X-ray and decayed teeth were analyzed by scanning electron microscopy. Results: Typical features of AI were detected in 2 girls with BS. These 2 patients showed nephrocalcinosis, and diagnosis and adequate clinical control were delayed. Genetic analysis detected the mutation responsible for BS in 1 of these patients. In this case, BS was due to a homozygous mutation of exon 5 of the KCNJ1 gene resulting in a substitution of valine for alanine at the codon 214 (A214V. Conclusions: The finding of typical features of AI in BS might constitute preliminary evidence that abnormalities of the biomineralization process found in patients with renal tubular disorders might also affect calcium deposition in dental tissues.

  2. Antisynthetase syndrome (ASS) presenting as acute respiratory distress syndrome (ARDS) in a patient without myositis features.

    Science.gov (United States)

    Kanchustambham, Venkat Kiran; Saladi, Swetha; Mahmoudassaf, Sarah; Patolia, Setu

    2016-12-09

    A woman aged 61 years presented to the emergency room with a 1-week history of dyspnoea on exertion and dry cough. X-ray of the chest showed diffuse interstitial opacities and was started on antibiotics and furosemide, and despite these measures, patient's respiratory status worsened, prompting endotracheal intubation. CT of the chest showed diffuse bilateral ground glass opacities and underwent bronchoscope with trans-bronchial biopsy that showed chronic bronchitis. Pt was empirically started on intravenous steroids due to concerns for interstitial lung disease (ILD). Autoimmune work up was sent and underwent video-assisted thoracoscopic surgery-guided biopsy of the lung that showed non-specific interstitial pattern with fibrosis. The patient was diagnosed as having antisynthetase syndrome with pulmonary involvement (ILD) as the cause of her acute respiratory failure. Azathioprine was started as steroid-sparing agent and was weaned off the ventilator to a tracheostomy collar and discharged to long-term rehabilitation centre. 2016 BMJ Publishing Group Ltd.

  3. Impact of dentofacial deformity and motivation for treatment: a qualitative study.

    Science.gov (United States)

    Ryan, Fiona S; Barnard, Matthew; Cunningham, Susan J

    2012-06-01

    Satisfaction with the outcome of orthognathic treatment is generally high; however, an important minority remains dissatisfied with the results. The reasons for this could be inadequate patient understanding and preparation, external motivation, and unrealistic expectations. In-depth appreciation of these issues can be obtained using qualitative research methods, but there is a paucity of qualitative research in this field. This was a cross-sectional qualitative study of orthognathic patients conducted at a teaching hospital. In-depth interviews were conducted with 18 prospective orthognathic patients. The data were managed by using the framework approach and analyzed by using the critical qualitative theory. Two main themes were explored in the interviews: the impact of the dentofacial deformity and the motivation for treatment. Both the everyday problems of living with a dentofacial deformity and the motivation for seeking treatment could be classified either as exclusively practical (including functional and structural), exclusively psychological (including psychosocial and esthetic), or a combination. Different coping strategies were also described. The sources of motivation ranged between purely external to purely internal, with most subjects between these 2 extremes. In this article, we present a classification of the impact of dentofacial deformity that is a refinement of the traditional one that includes esthetic, functional, and psychosocial factors. The motivating factors, together with the triggers for accessing treatment and the source of motivation, are generally linked directly or indirectly to the problem and the impact of the condition. However, in a few patients, the motivation might not relate to the impact of the problem but to a complex array of other factors such as personality, upbringing, and relationships. Therefore, clinicians should not make assumptions but explore these factors on an individual basis without preconceived ideas. Copyright

  4. Orthodontic and dentofacial orthopedic management of juvenile idiopathic arthritis: a systematic review of the literature.

    Science.gov (United States)

    von Bremen, J; Ruf, S

    2011-08-01

    To systematically review the literature published on orthodontic treatment principles in patients with juvenile idiopathic arthritis (JIA). Several electronic databases (PubMed, Medpilot, Web of Science, and DIMDI) and orthodontic and rheumatologic literature were systematically searched for studies published until May 2010. The articles were rated by two independent reviewers and included after three selection steps (title-abstract-full text). Articles had to be studies performed on ≥ 5 patients with a disease onset before the age of 16. The selection process resulted in the inclusion of three publications on dentofacial orthopedics and six on combined surgical orthodontic therapy. The three studies on dentofacial orthopedics aimed to improve the mandibular retrusion by means of removable functional appliances (activator). Whereas these orthodontic approaches comprised relatively large and homogeneous patient samples (14, 22, and 72 subjects, aged 6-16), the surgical studies were basically case series with a large age span of the patients (5-12 subjects, aged 10-44). In these surgical treatment approaches, orthodontics was limited to pre-surgical leveling and post-surgical finishing, while the skeletal discrepancy was treated surgically by a variety of techniques (costochondral grafts, bilateral sagittal spilt osteotomy, Le Fort I, and genioplasty). The treatment goals of both approaches were improvement of esthetics and function and/or pain reduction, and both approaches showed satisfactory results. Because of the heterogeneity of the subject material and the low level of evidence of the papers, it is difficult to draw any conclusions on the orthodontic/dentofacial orthopedic management of JIA. It appears as if removable functional appliances may be beneficial in adolescent patients with JIA. © 2011 John Wiley & Sons A/S.

  5. The Histological and Immunohistochemical Features of the Skin Lesions in CANDLE Syndrome

    Science.gov (United States)

    Torrelo, Antonio; Colmenero, Isabel; Requena, Luis; Paller, Amy S.; Ramot, Yuval; Lee, Chyi-Chia Richard; Vera, Angel; Zlotogorski, Abraham; Goldbach-Mansky, Raphaela; Kutzner, Heinz

    2015-01-01

    Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome is a newly characterized autoinflammatory disorder, caused by mutations in PSMB8. It is characterized by early-onset fevers, accompanied by a widespread, violaceous and often annular, cutaneous eruption. While the exact pathogenesis of this syndrome is still obscure, it is postulated that the inflammatory disease manifestations stem from excess secretion of interferons. Based on preliminary blood cytokine and gene expression studies, the signature seems to come mostly from type I interferons, which are proposed to lead to the recruitment of immature myeloid cells into the dermis and subcutis. In this study, we systematically analyzed skin biopsies from 6 CANDLE syndrome patients by routine histopathology and immunohistochemistry methods. Skin lesions showed the presence of extensive mixed dermal and subcutaneous inflammatory infiltrate, composed of mononuclear cells, atypical myeloid cells, neutrophils, eosinophils and some mature lymphocytes. Positive LEDER and myeloperoxidase staining supported the presence of myeloid cells. Positive CD68/PMG1 and CD163 staining confirmed the existence of histiocytes and monocytic macrophages in the inflammatory infiltrate. CD123 staining was positive, demonstrating the presence of plasmacytoid dendritic cells. Uncovering the unique histopathologic and immunohistochemical features of CANDLE syndrome provides tools for rapid and specific diagnosis of this disorder as well as further insight into the pathogenesis of this severe, life-threatening condition. PMID:26091509

  6. Rett syndrome: basic features of visual processing-a pilot study of eye-tracking.

    Science.gov (United States)

    Djukic, Aleksandra; Valicenti McDermott, Maria; Mavrommatis, Kathleen; Martins, Cristina L

    2012-07-01

    Consistently observed "strong eye gaze" has not been validated as a means of communication in girls with Rett syndrome, ubiquitously affected by apraxia, unable to reply either verbally or manually to questions during formal psychologic assessment. We examined nonverbal cognitive abilities and basic features of visual processing (visual discrimination attention/memory) by analyzing patterns of visual fixation in 44 girls with Rett syndrome, compared with typical control subjects. To determine features of visual fixation patterns, multiple pictures (with the location of the salient and presence/absence of novel stimuli as variables) were presented on the screen of a TS120 eye-tracker. Of the 44, 35 (80%) calibrated and exhibited meaningful patterns of visual fixation. They looked longer at salient stimuli (cartoon, 2.8 ± 2 seconds S.D., vs shape, 0.9 ± 1.2 seconds S.D.; P = 0.02), regardless of their position on the screen. They recognized novel stimuli, decreasing the fixation time on the central image when another image appeared on the periphery of the slide (2.7 ± 1 seconds S.D. vs 1.8 ± 1 seconds S.D., P = 0.002). Eye-tracking provides a feasible method for cognitive assessment and new insights into the "hidden" abilities of individuals with Rett syndrome. Copyright © 2012 Elsevier Inc. All rights reserved.

  7. Idiopathic hypereosinophilic syndrome involving the liver: CT features vs. peripheral eosinophilia

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Kyung Sook; Lee, Moon Gyu; Won, Young Chul; Lee, Eun Hye; Noh, Han Na; Ha, Hyun Kwon; Kim, Pyo Nyun; Auh, Yong Ho [Ulsan Univ. College of Medicine, Seoul (Korea, Republic of)

    1997-10-01

    To correlate CT features with peripheral eosinophilia in patients with idiopathic hypereosinophilic syndrome involving the liver. During the last three years, features of liver involvement in nine of 20 patients with idiopathic hypereosinophilic syndrome were evaluated on CT. The shape and distribution of intrahepatic low densities and the presence of hepatomegaly and/or splenomegaly were reviewed on CT, and the percentage of eosinophils in peripheral blood was also determined. In seven cases, interval change in hepatic lesion and the percentage of eosinophils were reviewed on follow-up examination. On initial CT, varying low-density patterns were seen in the liver in all cases; hepatomegaly was seen in four cases, and hepatosplenomegaly in two. The percentage of eosinophils was 89% in a case with diffuse patch low densities in the liver, 65-85% in three cases with numerous nodular low density lesions, 12-29% in four cases with multiple (below ten) nodular or small geographic hypodense lesions, and 24% in a case with a single nodular hypodense lesion. On follow-up CT, seven patients showed a decrease in the percentage of eosinophils, and in six, improved intrahepatic low densities were seen. On CT, intrahepatic low densities were seen in patients with idiopathic hypereosinophilic syndrome, and these were distributed more extensively when peripheral eosinophilia was more severe. With improvement in peripheral eosinophilia, the low densities also improved.

  8. Idiopathic hypereosinophilic syndrome involving the liver: CT features vs. peripheral eosinophilia

    International Nuclear Information System (INIS)

    Kim, Kyung Sook; Lee, Moon Gyu; Won, Young Chul; Lee, Eun Hye; Noh, Han Na; Ha, Hyun Kwon; Kim, Pyo Nyun; Auh, Yong Ho

    1997-01-01

    To correlate CT features with peripheral eosinophilia in patients with idiopathic hypereosinophilic syndrome involving the liver. During the last three years, features of liver involvement in nine of 20 patients with idiopathic hypereosinophilic syndrome were evaluated on CT. The shape and distribution of intrahepatic low densities and the presence of hepatomegaly and/or splenomegaly were reviewed on CT, and the percentage of eosinophils in peripheral blood was also determined. In seven cases, interval change in hepatic lesion and the percentage of eosinophils were reviewed on follow-up examination. On initial CT, varying low-density patterns were seen in the liver in all cases; hepatomegaly was seen in four cases, and hepatosplenomegaly in two. The percentage of eosinophils was 89% in a case with diffuse patch low densities in the liver, 65-85% in three cases with numerous nodular low density lesions, 12-29% in four cases with multiple (below ten) nodular or small geographic hypodense lesions, and 24% in a case with a single nodular hypodense lesion. On follow-up CT, seven patients showed a decrease in the percentage of eosinophils, and in six, improved intrahepatic low densities were seen. On CT, intrahepatic low densities were seen in patients with idiopathic hypereosinophilic syndrome, and these were distributed more extensively when peripheral eosinophilia was more severe. With improvement in peripheral eosinophilia, the low densities also improved

  9. Spatial-temporal features of thermal images for Carpal Tunnel Syndrome detection

    Science.gov (United States)

    Estupinan Roldan, Kevin; Ortega Piedrahita, Marco A.; Benitez, Hernan D.

    2014-02-01

    Disorders associated with repeated trauma account for about 60% of all occupational illnesses, Carpal Tunnel Syndrome (CTS) being the most consulted today. Infrared Thermography (IT) has come to play an important role in the field of medicine. IT is non-invasive and detects diseases based on measuring temperature variations. IT represents a possible alternative to prevalent methods for diagnosis of CTS (i.e. nerve conduction studies and electromiography). This work presents a set of spatial-temporal features extracted from thermal images taken in healthy and ill patients. Support Vector Machine (SVM) classifiers test this feature space with Leave One Out (LOO) validation error. The results of the proposed approach show linear separability and lower validation errors when compared to features used in previous works that do not account for temperature spatial variability.

  10. 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.

  11. A newly recognized syndrome of severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features.

    Science.gov (United States)

    Vinkler, Chana; Leshinsky-Silver, Esther; Michelson, Marina; Haas, Dorothea; Lerman-Sagie, Tally; Lev, Dorit

    2014-01-01

    Genetic syndromes with proportionate severe short stature are rare. We describe two sisters born to nonconsanguineous parents with severe linear growth retardation, poor weight gain, microcephaly, characteristic facial features, cutaneous syndactyly of the toes, high myopia, and severe intellectual disability. During infancy and early childhood, the girls had transient hepatosplenomegaly and low blood cholesterol levels that normalized later. A thorough evaluation including metabolic studies, radiological, and genetic investigations were all normal. Cholesterol metabolism and transport were studied and no definitive abnormality was found. No clinical deterioration was observed and no metabolic crises were reported. After due consideration of other known hereditary causes of post-natal severe linear growth retardation, microcephaly, and intellectual disability, we propose that this condition represents a newly recognized autosomal recessive multiple congenital anomaly-intellectual disability syndrome. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  12. Steel syndrome: dislocated hips and radial heads, carpal coalition, scoliosis, short stature, and characteristic facial features.

    Science.gov (United States)

    Flynn, John M; Ramirez, Norman; Betz, Randal; Mulcahey, Mary Jane; Pino, Franz; Herrera-Soto, Jose A; Carlo, Simon; Cornier, Alberto S

    2010-01-01

    A syndrome of children with short stature, bilateral hip dislocations, radial head dislocations, carpal coalitions, scoliosis, and cavus feet in Puerto Rican children, was reported by Steel et al in 1993. The syndrome was described as a unique entity with dismal results after conventional treatment of dislocated hips. The purpose of this study is to reevaluate this patient population with a longer follow-up and delineate the clinical and radiologic features, treatment outcomes, and the genetic characteristics. This is a retrospective cohort study of 32 patients in whom we evaluated the clinical, imaging data, and genetic characteristics. We compare the findings and quality of life in patients with this syndrome who have had attempts at reduction of the hips versus those who did not have the treatment. Congenital hip dislocations were present in 100% of the patients. There was no attempt at reduction in 39% (25/64) of the hips. In the remaining 61% (39/64), the hips were treated with a variety of modalities fraught with complications. Of those treated, 85% (33/39) remain dislocated, the rest of the hips continue subluxated with acetabular dysplasia and pain. The group of hips that were not treated reported fewer complaints and limitation in daily activities compared with the hips that had attempts at reduction. Steel syndrome is a distinct clinical entity characterized by short stature, bilateral hip and radial head dislocation, carpal coalition, scoliosis, cavus feet, and characteristic facial features with dismal results for attempts at reduction of the hips. Prognostic Study Level II.

  13. 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

  14. 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.

  15. Sensorineural deafness, distinctive facial features, and abnormal cranial bones: a new variant of Waardenburg syndrome?

    Science.gov (United States)

    Gad, Alona; Laurino, Mercy; Maravilla, Kenneth R; Matsushita, Mark; Raskind, Wendy H

    2008-07-15

    The Waardenburg syndromes (WS) account for approximately 2% of congenital sensorineural deafness. This heterogeneous group of diseases currently can be categorized into four major subtypes (WS types 1-4) on the basis of characteristic clinical features. Multiple genes have been implicated in WS, and mutations in some genes can cause more than one WS subtype. In addition to eye, hair, and skin pigmentary abnormalities, dystopia canthorum and broad nasal bridge are seen in WS type 1. Mutations in the PAX3 gene are responsible for the condition in the majority of these patients. In addition, mutations in PAX3 have been found in WS type 3 that is distinguished by musculoskeletal abnormalities, and in a family with a rare subtype of WS, craniofacial-deafness-hand syndrome (CDHS), characterized by dysmorphic facial features, hand abnormalities, and absent or hypoplastic nasal and wrist bones. Here we describe a woman who shares some, but not all features of WS type 3 and CDHS, and who also has abnormal cranial bones. All sinuses were hypoplastic, and the cochlea were small. No sequence alteration in PAX3 was found. These observations broaden the clinical range of WS and suggest there may be genetic heterogeneity even within the CDHS subtype. 2008 Wiley-Liss, Inc.

  16. Clinical features and endocrine profile of Laron syndrome in Indian children

    Directory of Open Access Journals (Sweden)

    Supriya R Phanse-Gupte

    2014-01-01

    Full Text Available Introduction: Patients with growth hormone (GH insensitivity (also known as Laron syndome have been reported from the Mediterranean region and Southern Eucador, with few case reports from India. We present here the clinical and endocrine profile of 9 children with Laron syndrome from India. Material and Methods: Nine children diagnosed with Laron syndrome based on clinical features of GH deficiency and biochemical profile suggestive of GH resistance were studied over a period of 5 years from January 2008 to January 2013. Results and Discussion: Age of presentation was between 2.5-11.5 years. All children were considerably short on contemporary Indian charts with mean (SD height Z score -5.2 (1.6. However, they were within ± 2 SD on Laron charts. No child was overweight [mean (SD BMI Z score 0.92 (1.1]. All children had characteristic facies of GH deficiency with an added feature of prominent eyes. Three boys had micropenis and 1 had unilateral undescended testis. All children had low IGF-1 (<5 percentile and IGFP-3 (<0.1 percentile with high basal and stimulated GH [Basal GH mean (SD = 13.78 (12.75 ng/ml, 1-h stimulated GH mean (SD = 46.29 (25.68 ng/ml]. All children showed poor response to IGF generation test. Conclusion: Laron syndrome should be suspected in children with clinical features of GH deficiency, high GH levels and low IGF-1/IGFBP-3. These children are in a state of GH resistance and need IGF-1 therapy.

  17. 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

  18. Clinical features and pathophysiology of Complex Regional Pain Syndrome – current state of the art

    Science.gov (United States)

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

    2017-01-01

    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 of CRPS. Collectively, the evidence points to CRPS being a multifactorial disorder that is associated with an aberrant host response to tissue injury. Varying susceptibility to perturbed regulation of any of the underlying biological pathways probably accounts for the clinical heterogeneity of CRPS. PMID:21683929

  19. 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.

  20. 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.

  1. The assessment of dentofacial esthetics in restorative dentistry: a review of the literature.

    Science.gov (United States)

    Frese, Cornelia; Staehle, Hans Joerg; Wolff, Diana

    2012-05-01

    The authors conducted a literature review to determine how dentofacial esthetics can be evaluated in restorative dentistry and which quantifiable clinical parameters can be used for this assessment of dentofacial esthetics. The authors selected 35 studies that focused on assessment strategies for dental professionals. The primary inclusion criteria were intraoral and extraoral esthetic assessment methods and indexes or rating scales evaluating esthetics in restorative dentistry. The studies' protocols and assessment methods were heterogeneous. The authors grouped the studies into six categories according to topic: golden proportion, soft-tissue measurement, smile and smile line assessment, orofacial indexes and scales, incisor proportion and angulation, and facial esthetics. These categories included various esthetic parameters, including the smile line, lip line, incisal offset, location of dental and facial midline, incisor angulations and width to height ratios of the maxillary anterior teeth, gingival contour, and root coverage and papilla height. These parameters should be considered when providing dental treatment in the anterior area, as they allow for quantification and objective judgment. The findings of this review might increase interest in a comprehensive dental esthetic index that allows for objective quantification and intrastudy and interstudy comparison of dental treatment outcomes.

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

    DEFF Research Database (Denmark)

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

    2013-01-01

    patients with 22q11 distal deletions, of whom two have complex congenital heart malformation, thus broadening the phenotypic spectrum. We compare cardiac malformations reported in 22q11 distal deletion to those reported in the common 22q11 deletion syndrome. We also review the literature for patients...... 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...

  3. Ocular Features in 16 Brazilian Patients with Williams-Beuren Syndrome.

    Science.gov (United States)

    Viana, Melissa Machado; Frasson, Maria; Galvão, Henrique; Leão, Letícia Lima; Stofanko, Martin; Gonçalves-Dornelas, Higgor; da Silva Cunha, Pricila; Burle de Aguiar, Marcos José

    2015-01-01

    Williams-Beuren Syndrome (WBS) is a multisystem disorder caused by the deletion of contiguous genes on chromosome 7q11.23. Ophthalmologic abnormalities and deficits in visual motor integration are important features of WBS. Here we describe our experience with Brazilian WBS patients and their ophthalmologic features. Sixteen patients with confirmed WBS went through thorough ophthalmologic examination. The most frequent ocular findings in our group of patients were stellate iris pattern (81.2%), hyperopic astigmatism (50%), hyperopia (37.5%), tortuosity of retinal vessel (37.5%) and strabismus (18.7%). This is the second report of ophthalmologic abnormalities in a group of Brazilian individuals with WBS. It is extremely valuable that specific populations are studied so that clinical diagnosis can be refined and management of patients can be driven to the most common presentations of the disease.

  4. 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.

  5. Clinical and Molecular Features of Laron Syndrome, A Genetic Disorder Protecting from Cancer.

    Science.gov (United States)

    Janecka, Anna; Kołodziej-Rzepa, Marta; Biesaga, Beata

    2016-01-01

    Laron syndrome (LS) is a rare, genetic disorder inherited in an autosomal recessive manner. The disease is caused by mutations of the growth hormone (GH) gene, leading to GH/insulin-like growth factor type 1 (IGF1) signalling pathway defect. Patients with LS have characteristic biochemical features, such as a high serum level of GH and low IGF1 concentration. Laron syndrome was first described by the Israeli physician Zvi Laron in 1966. Globally, around 350 people are affected by this syndrome and there are two large groups living in separate geographic regions: Israel (69 individuals) and Ecuador (90 individuals). They are all characterized by typical appearance such as dwarfism, facial phenotype, obesity and hypogenitalism. Additionally, they suffer from hypoglycemia, hypercholesterolemia and sleep disorders, but surprisingly have a very low cancer risk. Therefore, studies on LS offer a unique opportunity to better understand carcinogenesis and develop new strategies of cancer treatment. Copyright © 2016 International Institute of Anticancer Research (Dr. John G. Delinassios), 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. 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.

  8. 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.

  9. 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.

  10. Epidemiological and Clinical Features of Severe Fever with Thrombocytopenia Syndrome in Japan, 2013-2014.

    Directory of Open Access Journals (Sweden)

    Hirofumi Kato

    Full Text Available Although severe fever with thrombocytopenia syndrome (SFTS was first reported from Japan in 2013, the precise clinical features and the risk factors for SFTS have not been fully investigated in Japan. Ninety-six cases of severe fever with thrombocytopenia syndrome (SFTS were notified through the national surveillance system between April 2013 and September 2014 in Japan. All cases were from western Japan, and 82 cases (85% had an onset between April and August. A retrospective observational study of the notified SFTS cases was conducted to identify the clinical features and laboratory findings during the same period. Of 96 notified cases, 49 (51% were included in this study. Most case-patients were of advanced age (median age 78 years and were retired or unemployed, or farmers. These case-patients had a history of outdoor activity within 2 weeks before the onset of illness. The median serum C-reactive protein concentration was slightly elevated at admission. Fungal infections such as invasive aspergilosis were found in 10% of these case-patients. Hemophagocytosis was observed in 15 of the 18 case-patients (83% whose bone marrow samples were available. Fifteen cases were fatal, giving a case-fatality proportion of 31%. The proportion of neurological abnormalities and serum concentrations of lactate dehydrogenase and aspartate aminotransferase were significantly higher in the fatal cases than in the nonfatal cases during hospitalization. Appearance of neurological abnormality may be useful for predicting the prognosis in SFTS patients.

  11. Epidemiological and Clinical Features of Severe Fever with Thrombocytopenia Syndrome in Japan, 2013-2014.

    Science.gov (United States)

    Kato, Hirofumi; Yamagishi, Takuya; Shimada, Tomoe; Matsui, Tamano; Shimojima, Masayuki; Saijo, Masayuki; Oishi, Kazunori

    2016-01-01

    Although severe fever with thrombocytopenia syndrome (SFTS) was first reported from Japan in 2013, the precise clinical features and the risk factors for SFTS have not been fully investigated in Japan. Ninety-six cases of severe fever with thrombocytopenia syndrome (SFTS) were notified through the national surveillance system between April 2013 and September 2014 in Japan. All cases were from western Japan, and 82 cases (85%) had an onset between April and August. A retrospective observational study of the notified SFTS cases was conducted to identify the clinical features and laboratory findings during the same period. Of 96 notified cases, 49 (51%) were included in this study. Most case-patients were of advanced age (median age 78 years) and were retired or unemployed, or farmers. These case-patients had a history of outdoor activity within 2 weeks before the onset of illness. The median serum C-reactive protein concentration was slightly elevated at admission. Fungal infections such as invasive aspergilosis were found in 10% of these case-patients. Hemophagocytosis was observed in 15 of the 18 case-patients (83%) whose bone marrow samples were available. Fifteen cases were fatal, giving a case-fatality proportion of 31%. The proportion of neurological abnormalities and serum concentrations of lactate dehydrogenase and aspartate aminotransferase were significantly higher in the fatal cases than in the nonfatal cases during hospitalization. Appearance of neurological abnormality may be useful for predicting the prognosis in SFTS patients.

  12. Epidemiological and Clinical Features of Severe Fever with Thrombocytopenia Syndrome in Japan, 2013–2014

    Science.gov (United States)

    Shimada, Tomoe; Matsui, Tamano; Shimojima, Masayuki; Saijo, Masayuki; Oishi, Kazunori

    2016-01-01

    Although severe fever with thrombocytopenia syndrome (SFTS) was first reported from Japan in 2013, the precise clinical features and the risk factors for SFTS have not been fully investigated in Japan. Ninety-six cases of severe fever with thrombocytopenia syndrome (SFTS) were notified through the national surveillance system between April 2013 and September 2014 in Japan. All cases were from western Japan, and 82 cases (85%) had an onset between April and August. A retrospective observational study of the notified SFTS cases was conducted to identify the clinical features and laboratory findings during the same period. Of 96 notified cases, 49 (51%) were included in this study. Most case-patients were of advanced age (median age 78 years) and were retired or unemployed, or farmers. These case-patients had a history of outdoor activity within 2 weeks before the onset of illness. The median serum C-reactive protein concentration was slightly elevated at admission. Fungal infections such as invasive aspergilosis were found in 10% of these case-patients. Hemophagocytosis was observed in 15 of the 18 case-patients (83%) whose bone marrow samples were available. Fifteen cases were fatal, giving a case-fatality proportion of 31%. The proportion of neurological abnormalities and serum concentrations of lactate dehydrogenase and aspartate aminotransferase were significantly higher in the fatal cases than in the nonfatal cases during hospitalization. Appearance of neurological abnormality may be useful for predicting the prognosis in SFTS patients. PMID:27776187

  13. Pseudo-bartter syndrome, pattern and correlation with other cystic fibrosis features.

    Science.gov (United States)

    Dahabreh, Muna M; Najada, Abdelhamid S

    2013-03-01

    Pseudo-Bartter Syndrome (PBS), although quite common in patients with cystic fibrosis (CF), is often missed as simple dehydration or Bartter syndrome. This study was performed in patients with PBS to compare the pattern and course of the disease with those with CF not manifesting with this syndrome. All patients with CF who attended the respiratory clinic at Queen Rania Al-Abdallah Hospital from January 2000 to April 2010 were included in this retrospective case-control study. A specially formulated data sheet was used and those with PBS and those not having the syndrome were identified. A total of 110 patients (51% female) with CF with a median age of seven years were followed-up. Eighteen (16.3%) of them had one or more episodes of PBS. The median follow-up period was 6.2 years. All the episodes occurred during summer and in infancy. Median age of the initial episode of PBS was three months. One-third of them were initially followed at the nephrology clinic. Three patterns of PBS were identified: single episode in three (16.6%) patients, recurrent in 12 (66.6%) patients and chronic in three (16.6%) patients. Early colonization of Pseudomonas spp before 1 st birthday was seen in 44% patients with PBS compared with 12% in other CF patients (P-value = 0.0075). The total number of colonized patients and other CF features at the time of the study did not differ significantly among patients, although the mean Shwachman-Kulczycki score is significantly lower in those with recurrent PBS (69 compared with 85 in other CF patients). Gene mutation was identified in only 30% of the entire cohort. PBS is common in patients with CF, and it should be kept in mind in any patient with hypotonic dehydration and metabolic alkalosis. Recurrent pattern is associated with earlier Pseudomonas colonization.

  14. Pseudo-bartter syndrome, pattern and correlation with other cystic fibrosis features

    Directory of Open Access Journals (Sweden)

    Muna M Dahabreh

    2013-01-01

    Full Text Available Pseudo-Bartter Syndrome (PBS, although quite common in patients with cystic fibrosis (CF, is often missed as simple dehydration or Bartter syndrome. This study was performed in patients with PBS to compare the pattern and course of the disease with those with CF not manifesting with this syndrome. All patients with CF who attended the respiratory clinic at Queen Rania Al-Abdallah Hospital from January 2000 to April 2010 were included in this retrospective case-control study. A specially formulated data sheet was used and those with PBS and those not having the syndrome were identified. A total of 110 patients (51% female with CF with a median age of seven years were followed-up. Eighteen (16.3% of them had one or more episodes of PBS. The median follow-up period was 6.2 years. All the episodes occurred during summer and in infancy. Median age of the initial episode of PBS was three months. One-third of them were initially followed at the nephrology clinic. Three patterns of PBS were identified: single episode in three (16.6% patients, recurrent in 12 (66.6% patients and chronic in three (16.6% patients. Early colonization of Pseudomonas spp before 1 st birthday was seen in 44% patients with PBS compared with 12% in other CF patients (P-value = 0.0075. The total number of colonized patients and other CF features at the time of the study did not differ significantly among patients, although the mean Shwachman-Kulczycki score is significantly lower in those with recurrent PBS (69 compared with 85 in other CF patients. Gene mutation was identified in only 30% of the entire cohort. PBS is common in patients with CF, and it should be kept in mind in any patient with hypotonic dehydration and metabolic alkalosis. Recurrent pattern is associated with earlier Pseudomonas colonization.

  15. Radiologic features of all-trans-retinoic acid syndrome (ATRAS) - case report

    International Nuclear Information System (INIS)

    Konarzewska, J.; Bianek-Bodzak, A.; Szatkowski, D.; Szarmach, D.

    2007-01-01

    ATRA Syndrome appears as a side effect of acute promyelocytic leukemia treatment with ATRA, vitamin A derivative. The etiopathogenesis of the syndrome remains unclear. Fever, generalized edema, pleural or pericardial effusion, respiratory distress, coagulation disorders and sometimes renal failure are the most common clinical symptoms of ATRAS. Radiological features of the syndrome are very diverse. Early diagnosis followed by introduction of appropriate treatment (corticosteroids) prevents worsening of the patients' condition and significantly reduces the risk of death. Although clinical symptomatology of ATRAS has been widely described, there are still few descriptions of its radiological manifestation. A 53-year-old female was referred to the Hematology Department for further detailed diagnostics and appropriate therapy from the district hospital, where she had been primarily admitted due to weakness, easy fatigue, loss of appetite and blood extravasations on the skin of the extremities. The patient's general condition on admission was assessed as quite good. Acute promyelocytic leukemia (AML M3 according to FAB classification) was diagnosed. The introduced treatment included ATRA. On the second day of treatment, the patient developed fever, dyspnea, generalized edema, and coagulation disorders increased. Chest X-ray findings reminded ARDS. The diagnosis of ATRAS was established, which resulted in ATRA withdrawal. After administration of corticosteroids, the patient's condition improved gradually within a few days. ATRA was reintroduced then, since the signs of leukemia had intensified. The patient remains in charge of the Hematology Department. Changes of chest X-ray pictures in AML patients treated with ATRA should be interpreted in clinical context due to lack of radiological features specific for ATRAS. (author)

  16. Cockayne's syndrome: correlation of clinical features with cellular sensitivity of RNA synthesis to UV irradiation

    International Nuclear Information System (INIS)

    Lehmann, A.R.; Thompson, A.F.; Harcourt, S.A.

    1993-01-01

    Cockayne's syndrome (CS) is a rare autosomal recessive disorder with dwarfism, mental retardation, and otherwise clinically heterogeneous features. In cultured CS fibroblasts, the failure of RNA synthesis to recover to normal rates after UV-C irradiation provides a useful and relatively simple diagnostic test. We have measured post-UV-C RNA synthesis in 52 patients for whom a clinical diagnosis of CS was considered a possibility. Twenty-nine patients showed the defect characteristic of CS cells, and 23 had a normal response. We have attempted to correlate the cellular diagnosis with the different clinical features of the disorder. Clinical details of the patients were obtained from referring clinicians in the form of a questionnaire. Our results show that, apart from the cardinal features of dwarfism and mental retardation, sun sensitivity correlated best with a positive cellular diagnosis. Pigmentary retinopathy, gait defects, and dental caries were also good positive indicators, although several patients with a positive cellular diagnosis did not have these features. (Author)

  17. Alagille syndrome in a Vietnamese cohort: mutation analysis and assessment of facial features.

    Science.gov (United States)

    Lin, Henry C; Le Hoang, Phuc; Hutchinson, Anne; Chao, Grace; Gerfen, Jennifer; Loomes, Kathleen M; Krantz, Ian; Kamath, Binita M; Spinner, Nancy B

    2012-05-01

    Alagille syndrome (ALGS, OMIM #118450) is an autosomal dominant disorder that affects multiple organ systems including the liver, heart, eyes, vertebrae, and face. ALGS is caused by mutations in one of two genes in the Notch Signaling Pathway, Jagged1 (JAG1) or NOTCH2. In this study, analysis of 21 Vietnamese ALGS individuals led to the identification of 19 different mutations (18 JAG1 and 1 NOTCH2), 17 of which are novel, including the third reported NOTCH2 mutation in Alagille Syndrome. The spectrum of JAG1 mutations in the Vietnamese patients is similar to that previously reported, including nine frameshift, three missense, two splice site, one nonsense, two whole gene, and one partial gene deletion. The missense mutations are all likely to be disease causing, as two are loss of cysteines (C22R and C78G) and the third creates a cryptic splice site in exon 9 (G386R). No correlation between genotype and phenotype was observed. Assessment of clinical phenotype revealed that skeletal manifestations occur with a higher frequency than in previously reported Alagille cohorts. Facial features were difficult to assess and a Vietnamese pediatric gastroenterologist was only able to identify the facial phenotype in 61% of the cohort. To assess the agreement among North American dysmorphologists at detecting the presence of ALGS facial features in the Vietnamese patients, 37 clinical dysmorphologists evaluated a photographic panel of 20 Vietnamese children with and without ALGS. The dysmorphologists were unable to identify the individuals with ALGS in the majority of cases, suggesting that evaluation of facial features should not be used in the diagnosis of ALGS in this population. This is the first report of mutations and phenotypic spectrum of ALGS in a Vietnamese population. Copyright © 2012 Wiley Periodicals, Inc.

  18. Williams syndrome-specific neuroanatomical profile and its associations with behavioral features.

    Science.gov (United States)

    Fan, Chun Chieh; Brown, Timothy T; Bartsch, Hauke; Kuperman, Joshua M; Hagler, Donald J; Schork, Andrew; Searcy, Yvonne; Bellugi, Ursula; Halgren, Eric; Dale, Anders M

    2017-01-01

    Williams Syndrome (WS) is a rare genetic disorder with unique behavioral features. Yet the rareness of WS has limited the number and type of studies that can be conducted in which inferences are made about how neuroanatomical abnormalities mediate behaviors. In this study, we extracted a WS-specific neuroanatomical profile from structural magnetic resonance imaging (MRI) measurements and tested its association with behavioral features of WS. Using a WS adult cohort (22 WS, 16 healthy controls), we modeled a sparse representation of a WS-specific neuroanatomical profile. The predictive performances are robust within the training cohort (10-fold cross-validation, AUC = 1.0) and accurately identify all WS individuals in an independent child WS cohort (seven WS, 59 children with diverse developmental status, AUC = 1.0). The WS-specific neuroanatomical profile includes measurements in the orbitofrontal cortex, superior parietal cortex, Sylvian fissures, and basal ganglia, and variability within these areas related to the underlying size of hemizygous deletion in patients with partial deletions. The profile intensity mediated the overall cognitive impairment as well as personality features related to hypersociability. Our results imply that the unique behaviors in WS were mediated through the constellation of abnormalities in cortical-subcortical circuitry consistent in child WS and adult WS. The robustness of the derived WS-specific neuroanatomical profile also demonstrates the potential utility of our approach in both clinical and research applications.

  19. 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.

  20. Meglumine Exerts Protective Effects against Features of Metabolic Syndrome and Type II Diabetes

    Science.gov (United States)

    Bravo-Nuevo, Arturo; Marcy, Alice; Huang, Minzhou; Kappler, Frank; Mulgrew, Jennifer; Laury-Kleintop, Lisa; Reichman, Melvin; Tobia, Annette; Prendergast, George C.

    2014-01-01

    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. PMID:24587200

  1. Clinical Characteristics and Metabolic Features of Patients with Adrenal Incidentalomas with or without Subclinical Cushing's Syndrome

    Directory of Open Access Journals (Sweden)

    Bo-Yeon Kim

    2014-12-01

    Full Text Available BackgroundThe aim of this study was to examine the clinical characteristics of adrenal incidentalomas discovered by computed tomography (CT and to investigate metabolic features of subclinical Cushing's syndrome (SCS in patients with adrenal incidentalomas in a tertiary hospital in Korea.MethodsThis retrospective study examined the clinical aspects of 268 patients with adrenal incidentalomas discovered by CT at Soonchunhyang University Bucheon Hospital. Clinical data and endocrine function of the patients as well as histological findings were obtained from medical records, while anatomic characteristics were analyzed by reviewing imaging studies. Hormonal tests for pheochromocytoma, Cushing's syndrome, and aldosterone-secreting adenoma were performed.ResultsMost (n=218, 81.3% cases were nonfunctioning tumors. Of the 50 patients with functioning tumors (18.7%, 19 (7.1% were diagnosed with SCS, nine (3.4% with overt Cushing's syndrome, 12 (4.5% with primary aldosteronism, and 10 (3.7% with pheochromocytoma. Malignant tumors (both primary and metastatic were rare (n=2, 0.7%. Body mass index, fasting glucose, hemoglobin A1c, and total cholesterol were significantly higher in patients with SCS in comparison with those with nonfunctioning tumors. The prevalence of type 2 diabetes mellitus and hypertension were significantly higher in patients with SCS compared with those with nonfunctioning tumors.ConclusionFunctioning tumors, especially those with subclinical cortisol excess, are commonly found in patients with adrenal incidentalomas, although malignancy is rare. In addition, patients with SCS in adrenal incidentalomas have adverse metabolic and cardiovascular profiles.

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Directory of Open Access Journals (Sweden)

    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. Clinical and epidemiological features of hemorrhagic fever with renal syndrome course in Perm region

    Directory of Open Access Journals (Sweden)

    M. V. Ivanova

    2011-01-01

    Full Text Available The results of retrospective analysis of hemorrhagic fever with renal syndrome (HFRS incidence in the Perm region for 1995–2009 are shown in the article. There are highly active natural foci of infection on the territory of the region, mainly in the subzone of mixed coniferous-deciduous forests. Factors supporting the morbidity are high numbers of small mammals, in particular, the bank vole, with a large circulation of the HFRS virus and active population visit of natural foci in summer-autumn period. Analysis of clinical features of HFRS in 338 patients living in the Perm region, revealed some peculiarities of its course. Among surveyed contingent men (72,4% prevailed. Most of the patients (80,4% were of working age (16 to 60 years. More frequently mild and moderate forms (92,8% of HFRS were observed. A typical picture of the disease with the development of all specific syndromes occurred mainly in patients with severe and moderate forms. Mild cases occurred blurry in the absence of pathognomonic symptoms. Notable was the frequent lesion of liver, with the development of acute anicteric hepatitis (51,2%. Among the complications dominated: pneumonia (4,7% and acute renal  ailure (4,4%. Manifestations of DIC syndrome with recurrent bleeding were registered in 0,6% of patients, toxic shock – at 0,3%. Case fatality rate was 0,6%.

  5. Metabolic syndrome: its features in overweight women with polycystic ovary syndrome as compared with obese women without ovarian dysfunction?

    Science.gov (United States)

    Stoian, Dana; Craciunescu, Mihaela; Nitu, R; Navolan, D; Dumitru, C; Craina, M

    2013-01-01

    OVARIAN DYSFUNCTIOBJECTIVE: The study assesses the frequency of metabolic changes in overweight patients with or without polycystic ovary syndrome. The study group was made up by 148 patients of whom 99 patients without polycystic ovary syndrome (group A, control group) and 49 with polycystic ovary syndrome (group B), that came in our endocrine unit for a weight loss program, in the September 2008 March 2009 period. Morphometric parameters (height, weight, body mass index), biological parameters (cholesterol, triglycerides, blood glucose, glycated hemoglobin) and body composition analysis by measuring the electrical bioimpedance, were evaluated. Patients with polycystic ovary syndrome have a higher percentage of total fat (38.22+/-7.2) than patients without polycystic ovary syndrome (36.316+/-5.65) (psyndrome was higher in polycystic ovary syndrome cases (26.13%) comparative with overweight cases (16.16%, ppolycystic ovary syndrome is a particular group showing more severe metabolic changes.

  6. 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

  7. A case of Gorlin-Goltz syndrome presented with psychiatric features.

    Science.gov (United States)

    Mufaddel, Amir; Alsabousi, Mouza; Salih, Badr; Alhassani, Ghanem; Osman, Ossama T

    2014-01-01

    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.

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

    Directory of Open Access Journals (Sweden)

    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. 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.

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

    Directory of Open Access Journals (Sweden)

    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.

  11. [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.

  12. Characteristic symptoms and associated features of exploding head syndrome in undergraduates.

    Science.gov (United States)

    Sharpless, Brian A

    2018-03-01

    Background Exploding head syndrome (EHS) is characterized by loud noises or a sense of explosion in the head during sleep transitions. Though relatively common, little is known about its characteristic symptoms or associated features. Methods A cross-sectional study of 49 undergraduates with EHS was performed. A clinical interview established diagnosis. Results The most common accompanying symptoms were tachycardia, fear, and muscle jerks/twitches with the most severe associated with respiration difficulties. Visual phenomena were more common than expected (27%). EHS episodes were perceived as having a random course, but were most likely to occur during wake-sleep transitions and when sleeping in a supine position. Only 11% reported EHS to a professional, and 8% of those with recurrent EHS attempted to prevent episodes. Conclusions EHS episodes are complex (Mean (M) = 4.5 additional symptoms), often multisensorial, and usually associated with clinically-significant fear. They are rarely reported to professionals and treatment approaches are limited.

  13. A Single Center Study of the Clinical Features and Comorbidities of Patients with Restless Legs Syndrome

    Directory of Open Access Journals (Sweden)

    Eun-Kyoung Han

    2011-12-01

    Full Text Available This study investigated the clinical features and comorbidities of patients with restless legs syndrome (RLS. A total of 128 RLS patients (68 women, 60 men; mean age = 58.03 ± 12.58 years were assessed. The severity of RLS was evaluated by the International RLS Study Group (IRLSSG Severity Scale. Among the subjects with RLS, depressive symptoms (65.5% and poor sleep quality (95.4% were frequently reported, and 88.3% of the patients showed moderate-to-severe symptom severity on the IRLSSG Severity Scale. The most common complaint was insomnia (70.3%, and 16 patients (12.5% reported leg discomfort as their main symptom. Obstructive sleep apnea was observed in 66% of RLS patient. Iron deficiency was not prevalent in RLS patients. The severity of RLS was not significantly correlated with depression, sleep quality or sleepiness. We conclude that when assessing insomnia patients, RLS symptoms should be evaluated.

  14. Combined Use of Facial Osteoplasty and Orthognathic Surgery for Treatment of Dentofacial Deformities.

    Science.gov (United States)

    Li, Yunfeng; Hu, Zhiai; Ye, Bin; Liu, Yao; Ren, Xiaochun; Zhu, Songsong

    2016-12-01

    Orthognathic surgery is an efficient procedure for cosmetic and functional aims. However, when functional improvement is achieved by mandibular or maxillary operations, additional esthetic corrections may be imperative for some patients. This study aims to introduce our primary practice of simultaneous facial bone contouring and orthognathic surgery for esthetic reasons. Ten patients with dentofacial deformities as well as a prominent angle, asymmetric deformities, or a high zygoma and zygomatic arch were recruited from West China Hospital of Stomatology, Sichuan University (Chengdu, China), between January 1, 2014, and July 31, 2015. Traditional orthognathic surgical procedures such as bilateral sagittal split osteotomy and Le Fort I osteotomy combined with facial osteoplasty including mandibular angle ostectomy, outer cortex ostectomy of the mandibular angle, and zygoma and zygomatic arch reduction were performed. Radiographs and medical photographs were taken before and after surgery to compare the effectiveness of the combined use of facial osteoplasty and orthognathic surgery. All patients had an uneventful postoperative recovery, with no signs of infection, jaw displacement, or osteonecrosis. Radiographs taken 1 week after surgery and pictures of the facial profile and occlusion taken 6 months after surgery showed satisfactory esthetic outcomes. All patients were satisfied with the functional and cosmetic results. This study indicated the clinical feasibility of simultaneous facial bone contouring and orthognathic surgery for the treatment of dentofacial deformities. Simultaneous facial bone contouring seems to be an alternative procedure in addition to conventional orthognathic surgery for cosmetic aims in certain patients. Copyright © 2016 American Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc. All rights reserved.

  15. Metabolic Concomitants of Obese and Nonobese Women With Features of Polycystic Ovarian Syndrome

    Science.gov (United States)

    Boumosleh, Jocelyne Matar; Grundy, Scott M.; Phan, Jennifer; Neeland, Ian J.; Chang, Alice

    2017-01-01

    Context: Polycystic ovarian syndrome (PCOS) is often associated with obesity and diabetes. Objective: The present study measured body fat distribution and metabolic risk factors in women with features of PCOS. Design: Cross-sectional, multiethnic study of cardiovascular risks. Setting: General community. Study Participants: 145 PCOS and 344 non-PCOS women. Exposure Measures: Body composition by dual x-ray absorptiometry; abdominal fat masses measured by magnetic resonance imaging and hepatic triglyceride by magnetic resonance spectroscopy. Outcomes Measures: Body composition, liver fat content, homeostatic model assessment for insulin resistance (HOMA-IR), revised, and metabolic syndrome components. Results: PCOS women had a higher free androgen index compared with the non-PCOS women. Nonobese PCOS and non-PCOS women had a similar body fat content and distribution, HOMA-IR, and hepatic triglyceride content. Obese PCOS women had a similar total body fat percentage compared with their non-PCOS counterparts (41.4% and 41.4% respectively). Both obese groups had similar intraperitoneal fat (1.4% of total body mass in PCOS vs 1.4% in non-PCOS). However, obese PCOS women had a greater ratio of truncal/lower body fat (1.42 vs 1.27; P < 0.016). They also had greater insulin resistance (HOMA-IR: PCOS, 2.24% vs non-PCOS, 1.91%; P < 0.016), higher liver triglyceride content (6.96% in PCOS vs 4.44% in non-PCOS; P < 0.016), and a greater incidence of hypertension (33% vs 24%; P < 0.05). No differences were observed in other metabolic risk factors. Conclusions: Both obese and nonobese women with PCOS features had a greater free androgen index compared with non-PCOS women, but neither had greater intraperitoneal fat or abnormal lipid levels. Obese, but not nonobese, women with PCOS had a greater truncal/lower extremity fat ratio, HOMA-IR, and liver triglyceride content. PMID:29264465

  16. Characterization of reproductive, metabolic, and endocrine features of polycystic ovary syndrome in female hyperandrogenic mouse models.

    Science.gov (United States)

    Caldwell, A S L; Middleton, L J; Jimenez, M; Desai, R; McMahon, A C; Allan, C M; Handelsman, D J; Walters, K A

    2014-08-01

    Polycystic ovary syndrome (PCOS) affects 5-10% of women of reproductive age, causing a range of reproductive, metabolic and endocrine defects including anovulation, infertility, hyperandrogenism, obesity, hyperinsulinism, and an increased risk of type 2 diabetes and cardiovascular disease. Hyperandrogenism is the most consistent feature of PCOS, but its etiology remains unknown, and ethical and logistic constraints limit definitive experimentation in humans to determine mechanisms involved. In this study, we provide the first comprehensive characterization of reproductive, endocrine, and metabolic PCOS traits in 4 distinct murine models of hyperandrogenism, comprising prenatal dihydrotestosterone (DHT, potent nonaromatizable androgen) treatment during days 16-18 of gestation, or long-term treatment (90 days from 21 days of age) with DHT, dehydroepiandrosterone (DHEA), or letrozole (aromatase inhibitor). Prenatal DHT-treated mature mice exhibited irregular estrous cycles, oligo-ovulation, reduced preantral follicle health, hepatic steatosis, and adipocyte hypertrophy, but lacked overall changes in body-fat composition. Long-term DHT treatment induced polycystic ovaries displaying unhealthy antral follicles (degenerate oocyte and/or > 10% pyknotic granulosa cells), as well as anovulation and acyclicity in mature (16-week-old) females. Long-term DHT also increased body and fat pad weights and induced adipocyte hypertrophy and hypercholesterolemia. Long-term letrozole-treated mice exhibited absent or irregular cycles, oligo-ovulation, polycystic ovaries containing hemorrhagic cysts atypical of PCOS, and displayed no metabolic features of PCOS. Long-term dehydroepiandrosterone treatment produced no PCOS features in mature mice. Our findings reveal that long-term DHT treatment replicated a breadth of ovarian, endocrine, and metabolic features of human PCOS and provides the best mouse model for experimental studies of PCOS pathogenesis.

  17. 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...

  18. 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.

  19. Erythroleukemia shares biological features and outcome with myelodysplastic syndromes with excess blasts: a rationale for its inclusion into future classifications of myelodysplastic syndromes.

    Science.gov (United States)

    Calvo, Xavier; Arenillas, Leonor; Luño, Elisa; Senent, Leonor; Arnan, Montserrat; Ramos, Fernando; Ardanaz, María Teresa; Pedro, Carme; Tormo, Mar; Montoro, Julia; Díez-Campelo, María; Arrizabalaga, Beatriz; Xicoy, Blanca; Bonanad, Santiago; Jerez, Andrés; Nomdedeu, Benet; Ferrer, Ana; Sanz, Guillermo F; Florensa, Lourdes

    2016-12-01

    Erythroleukemia was considered an acute myeloid leukemia in the 2008 World Health Organization (WHO) classification and is defined by the presence of ≥50% bone marrow erythroblasts, having <20% bone marrow blasts from total nucleated cells but ≥20% bone marrow myeloblasts from nonerythroid cells. Erythroleukemia shares clinicopathologic features with myelodysplastic syndromes, especially with erythroid-predominant myelodysplastic syndromes (≥50% bone marrow erythroblasts). The upcoming WHO revision proposes to eliminate the nonerythroid blast cell count rule and to move erythroleukemia patients into the appropriate myelodysplastic syndrome category on the basis of the absolute blast cell count. We conducted a retrospective study of patients with de novo erythroleukemia and compared their clinico-biological features and outcome with those of de novo myelodysplastic syndromes, focusing on erythroid-predominant myelodysplastic syndromes. Median overall survival of 405 erythroid-predominant myelodysplastic syndromes without excess blasts was significantly longer than that observed in 57 erythroid-predominant refractory anemias with excess blasts-1 and in 59 erythroleukemias, but no significant difference was observed between erythroid-predominant refractory anemias with excess blasts-1 and erythroleukemias. In this subset of patients with ≥50% bone marrow erythroblasts and excess blasts, the presence of a high-risk karyotype defined by the International Prognostic Scoring System or by the Revised International Prognostic Scoring System was the main prognostic factor. In the same way, the survival of 459 refractory anemias with excess blasts-2, independently of having ≥20% bone marrow blasts from nonerythroid cells or not, was almost identical to the observed in 59 erythroleukemias. Interestingly, 11 low-blast count erythroleukemias with 5 to <10% bone marrow blasts from total nucleated cells showed similar survival than the rest of erythroleukemias. Our data

  20. Dentofacial morphology in adolescent or early adult patients with cleft lip and palate after a treatment regimen that included vomer flap surgery and pushback palatal repair.

    Science.gov (United States)

    Friede, H; Lilja, J

    1994-06-01

    Dentofacial morphology was evaluated in 94 adolescent or early adult patients born with unilateral or bilateral cleft lip and palate. As well as lip closure, the primary treatment included vomer flap surgery and pushback palatal repair. Roentgencephalometric measurements as well as classification of the patients into different classes of dentofacial deformity indicated development of bimaxillary retrognathia with severe midfacial deficiency in about a quarter of the cases. Our results were similar to those reported by other teams who used similar surgical regimen.

  1. Duodenal L cell density correlates with features of metabolic syndrome and plasma metabolites

    Directory of Open Access Journals (Sweden)

    Annieke C G van Baar

    2018-05-01

    Full Text Available Background: Enteroendocrine cells are essential for the regulation of glucose metabolism, but it is unknown whether they are associated with clinical features of metabolic syndrome (MetS and fasting plasma metabolites. Objective: We aimed to identify fasting plasma metabolites that associate with duodenal L cell, K cell and delta cell densities in subjects with MetS with ranging levels of insulin resistance. Research design and methods: In this cross-sectional study, we evaluated L, K and delta cell density in duodenal biopsies from treatment-naïve males with MetS using machine-learning methodology. Results: We identified specific clinical biomarkers and plasma metabolites associated with L cell and delta cell density. L cell density was associated with increased plasma metabolite levels including symmetrical dimethylarginine, 3-aminoisobutyric acid, kynurenine and glycine. In turn, these L cell-linked fasting plasma metabolites correlated with clinical features of MetS. Conclusions: Our results indicate a link between duodenal L cells, plasma metabolites and clinical characteristics of MetS. We conclude that duodenal L cells associate with plasma metabolites that have been implicated in human glucose metabolism homeostasis. Disentangling the causal relation between L cells and these metabolites might help to improve the (small intestinal-driven pathophysiology behind insulin resistance in human obesity.

  2. 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.

  3. 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.

  4. 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.

  5. 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.

  6. 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

  7. 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.

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

    Directory of Open Access Journals (Sweden)

    Greco Claudia M

    2011-02-01

    Full Text Available Abstract 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.

  9. Features, Treatment, and Outcomes of Macrophage Activation Syndrome in Childhood-Onset Systemic Lupus Erythematosus.

    Science.gov (United States)

    Borgia, R Ezequiel; Gerstein, Maya; Levy, Deborah M; Silverman, Earl D; Hiraki, Linda T

    2018-04-01

    To describe the features and treatment of macrophage activation syndrome (MAS) in a single-center cohort of patients with childhood-onset systemic lupus erythematosus (SLE), and to compare childhood-onset SLE manifestations and outcomes between those with and those without MAS. We included all patients with childhood-onset SLE followed up at The Hospital for Sick Children from 2002 to 2012, and identified those also diagnosed as having MAS. Demographic, clinical, and laboratory features of MAS and SLE, medication use, hospital and pediatric intensive care unit (PICU) admissions, as well as damage indices and mortality data were extracted from the Lupus database. Student's t-tests and Fisher's exact tests were used to compare continuous and categorical variables, respectively. We calculated incidence rate ratios of hospital and PICU admissions comparing patients with and those without MAS, using Poisson models. Kaplan-Meier survival analysis was used to examine the time to disease damage accrual. Of the 403 patients with childhood-onset SLE, 38 (9%) had MAS. The majority (68%) had concomitant MAS and SLE diagnoses. Fever was the most common MAS clinical feature. The frequency of renal and central nervous system disease, hospital admissions, the average daily dose of steroids, and time to disease damage were similar between those with and those without MAS. We observed a higher mortality rate among those with MAS (5%) than those without MAS (0.2%) (P = 0.02). MAS was most likely to develop concomitantly with childhood-onset SLE diagnosis. The majority of the MAS patients were successfully treated with corticosteroids with no MAS relapses. Although the numbers were small, there was a higher risk of death associated with MAS compared to SLE without MAS. © 2018, American College of Rheumatology.

  10. 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

  11. Genitourinary malformations: an under-recognized feature of ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome.

    Science.gov (United States)

    Hyder, Zerin; Beale, Victoria; O'Connor, Ruth; Clayton-Smith, Jill

    2017-04-01

    The ectodermal dysplasia and cleft lip/palate (EEC) syndrome describes the association of ectrodactyly, ectodermal dysplasia and orofacial clefting. As with many autosomal dominant disorders, there is variability in expression and not all of these three core features are present in every individual with the condition. Moreover, there may be additional associated features, which are under-recognized. One of these is the presence of genitourinary anomalies, some of which cause significant morbidity. This report details a further two patients with EEC syndrome and genitourinary involvement, including flaccid megacystis with detrusor muscle failure, bilateral hydronephrosis and megaureter, requiring significant renal and urological involvement during their childhood. We go on to review the literature on the diagnosis and management of genitourinary malformations in EEC syndrome.

  12. A patient with Dent disease and features of Bartter syndrome caused by a novel mutation of CLCN5.

    Science.gov (United States)

    Okamoto, Takayuki; Tajima, Toshihiro; Hirayama, Tomoya; Sasaki, Satoshi

    2012-02-01

    Dent disease is an X-linked tubulopathy mainly caused by inactivating mutations of CLCN5. Features of Bartter syndrome such as hypokalemic metabolic alkalosis are rarely observed in patients with Dent disease. We report a Japanese male patient with Dent disease who also manifested features of Bartter syndrome. At the age of 3 years, he was diagnosed with Dent disease based on low molecular weight proteinuria and hypercalciuria. One year later, he was found to have features of Bartter syndrome, i.e., hypokalemia and metabolic alkalosis, and high levels of plasma renin activity and aldosterone with a normal blood pressure. Despite medical interventions, he developed chronic kidney disease stage 3 at the age of 21 years. To investigate the molecular basis of his disease, CLCN5, KCNJ1, SLC12A1, and CLCkb were analyzed and a novel mutation (Y567X) in CLCN5 was identified. Hypokalemic metabolic alkalosis is a rare manifestation in Dent disease. It is speculated that Dent patients with features of Bartter syndrome are susceptible to progression to renal failure. To study this hypothesis, additional observations and long-term follow-up of such patients are necessary.

  13. 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.

  14. 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.

  15. 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.

  16. A Feingold syndrome case with previously undescribed features and a new mutation.

    NARCIS (Netherlands)

    Kocak, H.; Ozaydin, E.; Kose, G.; Marcelis, C.L.M.; Kamsteeg, E.J.; Ceylaner, S.

    2009-01-01

    Feingold syndrome (FS) is a dominantly inherited combination of microcephaly with or without learning disabilities, hand and foot abnormalities, short palpebral fissures and esophageal/duodenal atresia. The syndrome has autosomal dominant inheritance with full penetrance, and variable expressivity.

  17. A syndrome of epilepsy, dementia, and amelogenesis imperfecta: genetic and clinical features.

    OpenAIRE

    Christodoulou, J; Hall, R K; Menahem, S; Hopkins, I J; Rogers, J G

    1988-01-01

    A family is described with six members affected by a syndrome of epilepsy, dementia, and amelogenesis imperfecta (Kohlschütter's syndrome). An autosomal recessive pattern of inheritance is established for this disorder.

  18. 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

    that define a syndrome of cognitive impairment, behavioral alterations, intrauterine growth restriction, feeding problems, and various congenital malformations. Our combined clinical and molecular data define "YY1 syndrome" as a haploinsufficiency syndrome. Through immunoprecipitation of YY1-bound chromatin...... on the YY1-bound enhancers, underscoring a crucial role for YY1 in enhancer regulation. Collectively, these results define a clinical syndrome caused by haploinsufficiency of YY1 through dysregulation of key transcriptional regulators....

  19. 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

  20. Associations between salivary gland histopathologic diagnoses and phenotypic features of Sjögren's syndrome among 1,726 registry participants

    DEFF Research Database (Denmark)

    Daniels, Troy E; Cox, Darren; Shiboski, Caroline H

    2011-01-01

    To examine associations between labial salivary gland (LSG) histopathology and other phenotypic features of Sjögren's syndrome (SS).......To examine associations between labial salivary gland (LSG) histopathology and other phenotypic features of Sjögren's syndrome (SS)....

  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. 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.

  3. 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.

  4. Irritable bowel syndrome subtypes: Clinical and psychological features, body mass index and comorbidities.

    Science.gov (United States)

    Kibune Nagasako, Cristiane; Garcia Montes, Ciro; Silva Lorena, Sônia Letícia; Mesquita, Maria Aparecida

    2016-02-01

    Irritable bowel syndrome (IBS) is classified into subtypes according to bowel habit. To investigate whether there are differences in clinical features, comorbidities, anxiety, depression and body mass index (BMI) among IBS subtypes. 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). 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. 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.

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

    Directory of Open Access Journals (Sweden)

    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.

  6. Olfactory reference syndrome: demographic and clinical features of imagined body odor.

    Science.gov (United States)

    Phillips, Katharine A; Menard, William

    2011-01-01

    Olfactory reference syndrome (ORS) - preoccupation with a false belief that one emits a foul or offensive body odor - has been described around the world for more than a century. However, only a few small studies have systematically assessed ORS's clinical features. Twenty patients with ORS were systematically assessed using semistructured measures. Subjects' mean age was 33.4±14.1; 60% were female. Preoccupation most often focused on the mouth (75%), armpits (60%) and genitals (35%). Bad breath (75%) and sweat (65%) were the most common odor descriptions. Currently, 85% of subjects had delusional ORS beliefs, 77% had referential thinking and 85% reported actually smelling the odor. Ninety-five percent of subjects reported performing one or more ORS-related repetitive behaviors (e.g., excessive showering). Forty percent had been housebound for at least 1 week because of ORS symptoms, 68% had a history of suicidal ideation, 32% had attempted suicide and 53% had been psychiatrically hospitalized. Forty-four percent of subjects had sought nonpsychiatric medical, surgical or dental treatment for the perceived odor, and one third had received such treatment, which was ineffective in all cases. ORS appears to be characterized by high morbidity and seeking of nonpsychiatric treatment. Copyright © 2011 Elsevier Inc. All rights reserved.

  7. Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.

    Science.gov (United States)

    Tham, Emma; Lindstrand, Anna; Santani, Avni; Malmgren, Helena; Nesbitt, Addie; Dubbs, Holly A; Zackai, Elaine H; Parker, Michael J; Millan, Francisca; Rosenbaum, Kenneth; Wilson, Golder N; Nordgren, Ann

    2015-03-05

    Through a multi-center collaboration study, we here report six individuals from five unrelated families, with mutations in KAT6A/MOZ detected by whole-exome sequencing. All five different de novo heterozygous truncating mutations were located in the C-terminal transactivation domain of KAT6A: NM_001099412.1: c.3116_3117 delCT, p.(Ser1039∗); c.3830_3831insTT, p.(Arg1278Serfs∗17); c.3879 dupA, p.(Glu1294Argfs∗19); c.4108G>T p.(Glu1370∗) and c.4292 dupT, p.(Leu1431Phefs∗8). An additional subject with a 0.23 MB microdeletion including the entire KAT6A reading frame was identified with genome-wide array comparative genomic hybridization. Finally, by detailed clinical characterization we provide evidence that heterozygous mutations in KAT6A cause a distinct intellectual disability syndrome. The common phenotype includes hypotonia, intellectual disability, early feeding and oromotor difficulties, microcephaly and/or craniosynostosis, and cardiac defects in combination with subtle facial features such as bitemporal narrowing, broad nasal tip, thin upper lip, posteriorly rotated or low-set ears, and microretrognathia. The identification of human subjects complements previous work from mice and zebrafish where knockouts of Kat6a/kat6a lead to developmental defects. Copyright © 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  8. 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

  9. 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)

  10. FATP4 missense and nonsense mutations cause similar features in Ichthyosis Prematurity Syndrome

    Directory of Open Access Journals (Sweden)

    Dahl Niklas

    2011-03-01

    Full Text Available Abstract Background Ichthyosis Prematurity Syndrome (IPS is an autosomal recessive disorder characterized by premature birth, non-scaly ichthyosis and atopic manifestations. The disease was recently shown to be caused by mutations in the gene encoding the fatty acid transport protein 4 (FATP4 and a specific reduction in the incorporation of very long chain fatty acids (VLCFA into cellular lipids. Findings We screened probands from five families segregating IPS for mutations in the FATP4 gene. Four probands were compound heterozygous for four different mutations of which three are novel. Four patients were heterozygous and one patient homozygous for the previously reported non-sense mutation p.C168X (c.504c > a. All patients had clinical characteristics of IPS and a similar clinical course. Conclusions Missense mutations and non-sense mutations in FATP4 are associated with similar clinical features suggesting that missense mutations have a severe impact on FATP4 function. The results broaden the mutational spectrum in FATP4 associated with IPS for molecular diagnosis of and further functional analysis of FATP4.

  11. 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

  12. Clinical features and growth hormone receptor gene mutations of patients with Laron syndrome from a Chinese family.

    Science.gov (United States)

    Ying, Yan-Qin; Wei, Hong; Cao, Li-Zhi; Lu, Juan-Juan; Luo, Xiao-Ping

    2007-08-01

    Laron syndrome is an autosomal recessive disorder caused by defects of growth hormone receptor (GHR) gene. It is characterized by severe postnatal growth retardation and characteristic facial features as well as high circulating levels of growth hormone (GH) and low levels of insulin-like growth factor I (IGF-I) and insulin-like growth factor binding protein-3 (IGFBP-3). This report described the clinical features and GHR gene mutations in 2 siblings with Laron syndrome in a Chinese family. Their heights and weights were in the normal range at birth, but the growth was retarded after birth. When they presented to the clinic, the heights of the boy (8 years old) and his sister (11 years old) were 80.0 cm (-8.2 SDS) and 96.6 cm (-6.8 SDS) respectively. They had typical appearance features of Laron syndrome such as short stature and obesity, with protruding forehead, saddle nose, large eyes, sparse and thin silky hair and high-pitched voice. They had higher basal serum GH levels and lower serum levels of IGF-I, IGFBP-3 and growth hormone binding protein (GHBP) than normal controls. The peak serum GH level after colonidine and insulin stimulations in the boy was over 350 ng/mL. After one-year rhGH treatment, the boy's height increased from 80.0 cm to 83.3 cm. The gene mutation analysis revealed that two patients had same homozygous mutation of S65H (TCA -->CCA) in exon 4, which is a novel gene mutation. It was concluded that a definite diagnosis of Laron syndrome can be made based on characteristic appearance features and serum levels of GH, IGF-I, IGFBP-3 and GHBP. The S65H mutation might be the cause of Laron syndrome in the two patients.

  13. 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

  14. 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

  15. 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.

  16. Prevalence of Polycystic Ovary Syndrome Phenotypes Using Updated Criteria for Polycystic Ovarian Morphology: An Assessment of Over 100 Consecutive Women Self-reporting Features of Polycystic Ovary Syndrome

    OpenAIRE

    Clark, Nina M.; Podolski, Amanda J.; Brooks, Eric D.; Chizen, Donna R.; Pierson, Roger A.; Lehotay, Denis C.; Lujan, Marla E.

    2014-01-01

    The prevalence of polycystic ovary syndrome (PCOS) and its distinct clinical phenotypes were assessed using 3 sets of international diagnostic criteria in women self-reporting concerns over outward features of PCOS. Revised ultrasonographic criteria for polycystic ovaries (PCO) based on modern ultrasound technology were used. Of the participants, 53%, 62%, and 70% were diagnosed with PCOS using National Institutes of Health, Androgen Excess and PCOS Society, and Rotterdam criteria, respective...

  17. 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

  18. 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

  19. Plasma plasminogen activator inhibitor-1 levels and nonalcoholic fatty liver in individuals with features of metabolic syndrome.

    Science.gov (United States)

    de Larrañaga, Gabriela; Wingeyer, Silvia Perés; Graffigna, Mabel; Belli, Susana; Bendezú, Karla; Alvarez, Silvia; Levalle, Oscar; Fainboim, Hugo

    2008-07-01

    Fatty liver represents the liver component of metabolic syndrome and may be involved in plasminogen activator inhibitor-1 (PAI-1) synthesis. We studied plasma PAI-1 levels and relationships with risk factors for metabolic syndrome, including fatty liver, in 170 patients. Liver ultrasound scan was performed on all patients, and a liver biopsy was performed on those patients with chronically elevated transaminase levels. Plasma PAI-1 levels correlated significantly (P < .05) with body mass index, degree of steatosis, insulin resistance, insulin level, waist circumference, triglycerides, and high-density lipoprotein (HDL) -cholesterol. However, only body mass index (beta = .455) and HDL-cholesterol (beta = .293) remained predictors of PAI-1 levels. Liver biopsy revealed a significant correlation (P < .05) between insulin resistance (r = 0.381) or insulin level (r = 0.519) and liver fibrosis. In patients presenting features of metabolic syndrome, plasma PAI-1 levels were mainly conditioned by the whole-body fat content.

  20. Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients

    Science.gov (United States)

    Keel, Siobán B.; Scott, Angela; Sanchez-Bonilla, Marilyn; Ho, Phoenix A.; Gulsuner, Suleyman; Pritchard, Colin C.; Abkowitz, Janis L.; King, Mary-Claire; Walsh, Tom; Shimamura, Akiko

    2016-01-01

    The clinical and histopathological distinctions between inherited versus acquired bone marrow failure and myelodysplastic syndromes are challenging. The identification of inherited bone marrow failure/myelodysplastic syndromes is critical to inform appropriate clinical management. To investigate whether a subset of pediatric and young adults undergoing transplant for aplastic anemia or myelodysplastic syndrome have germline mutations in bone marrow failure/myelodysplastic syndrome genes, we performed a targeted genetic screen of samples obtained between 1990–2012 from children and young adults with aplastic anemia or myelodysplastic syndrome transplanted at the Fred Hutchinson Cancer Research Center. Mutations in inherited bone marrow failure/myelodysplastic syndrome genes were found in 5.1% (5/98) of aplastic anemia patients and 13.6% (15/110) of myelodysplastic syndrome patients. While the majority of mutations were constitutional, a RUNX1 mutation present in the peripheral blood at a 51% variant allele fraction was confirmed to be somatically acquired in one myelodysplastic syndrome patient. This highlights the importance of distinguishing germline versus somatic mutations by sequencing DNA from a second tissue or from parents. Pathological mutations were present in DKC1, MPL, and TP53 among the aplastic anemia cohort, and in FANCA, GATA2, MPL, RTEL1, RUNX1, SBDS, TERT, TINF2, and TP53 among the myelodysplastic syndrome cohort. Family history or physical examination failed to reliably predict the presence of germline mutations. This study shows that while any single specific bone marrow failure/myelodysplastic syndrome genetic disorder is rare, screening for these disorders in aggregate identifies a significant subset of patients with inherited bone marrow failure/myelodysplastic syndrome. PMID:27418648

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

    Directory of Open Access Journals (Sweden)

    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.

  2. Clinical features and management of ectopic ACTH syndrome at a single institute in Japan

    International Nuclear Information System (INIS)

    Doi, Masaru; Sugiyama, Toru; Izumiyama, Hajime; Yoshimoto, Takanobu; Hirata, Yukio

    2010-01-01

    Ectopic ACTH syndrome (EAS) is a diagnostic challenge because it is often indistinguishable from Cushing's disease. We describe our series of EAS patients referred to us during 1992-2009. Among 16 cases (9 females/7 males), with mean age of 58.4±19.0 yr, the ectopic source was identified in ten (proven EAS), whereas unidentified in six (occult/unknown EAS). Their salient clinical manifestations included Cushingoid feature (88%), skin pigmentation (88%), profound hypokalemia (88%), hypertension (75%), diabetes/impaired glucose tolerance (75%), hyperlipidemia (69%), and severe infection (44%). Dynamic endocrine tests revealed markedly elevated plasma ACTH levels (211±116 pg/mL) and cortisol levels (60.9±30.1 μg/dL) which showed resistance to overnight high-dose (8 mg) dexamethasone suppression test in 15 (94%) and unresponsiveness to corticotropin releasing hormone (CRH) stimulation in 12 (75%). No ACTH gradient during inferior petrosal sampling was noted in 13 of 15 (87%). Imaging tests by CT/MRI identified the tumors in 8 of 16 (50%), in 4 of 11 (36%) and 4 of 6 (66.7%) octreotide-responders by somatostatin receptor scintigraphy, but in only one of 9 (11.1%) by [ 18 F]-fluorodeoxyglucose-positron emission tomography (FDG-PET) scan. Six cases deceased, including small cell carcinoma (2) and adenocarcinoma (1) of lung, neuroendocrine carcinoma of pancreas (1) and stomach (1), and olfactory neuroblastoma (1), whereas 4 cases survived after removal of the tumors, including bronchial carcinoid tumor (3) and thymic hyperplasia (1). Six occult/unknown EAS patients survived for 67.5 months after medical treatment with metyrapone to control hypercortisolism. Thus, various endocrine tests combined with imaging studies are required to correctly localize the tumors. Control of hypercortisolemia by metyrapone, even if tumor is unrecognized, is critical for better prognosis, and the long-term follow-up by repeated endocrine and imaging tests is mandatory. (author)

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

    Science.gov (United States)

    Volek, Jeff S; Feinman, Richard D

    2005-11-16

    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 conclusion is probably not

  4. 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

  5. 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

  6. Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report

    Directory of Open Access Journals (Sweden)

    Stuart Caroline

    2004-06-01

    Full Text Available Abstract Background Triple-A syndrome (Allgrove syndrome is an autosomal recessive disorder characterized by adrenal insufficiency, alacrima, achalasia, and – occasionally – autonomic instability. Mutations have been found in the AAAS gene on 12q13. Case presentation We present the case of a 12 year-old boy with classic systemic features of triple-A syndrome and several prominent ophthalmic features, including: accommodative spasm, dry eye, superficial punctate keratopathy, and pupillary hypersensitivity to dilute pilocarpine. MRI showed small lacrimal glands bilaterally. DNA sequencing of PCR-amplified fragments from the 16 exons of the AAAS gene revealed compound heterozygosity for a new, out-of-frame 5-bp deletion in exon 15, c1368-1372delGCTCA, and a previously-described nonsense mutation in exon 9, c938C>T, R286X. Conclusions In addition to known ophthalmic manifestations, triple-A syndrome can present with accommodative dysregulation and ocular signs of autonomic dysfunction.

  7. [Gorlin-Goltz syndrome: review of the neuroradiological and maxillofacial features illustrated with two clinical cases].

    Science.gov (United States)

    Safronova, Marta Maia; Arantes, Mavilde; Lima, Iva; Domingues, Sara; Almeida, Marta; Moniz, Pedro

    2010-01-01

    Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome is a rare hereditary autosomal-dominant disorder characterized by multiple basal cell carcinomas in young patients, odontogenic keratocysts, palmar or plantar pits, calcification of the falx cerebri and skeletal malformations. This syndrome is due to mutations in PTCH1 (patched homolog 1 da Drosophila), a tumor suppressor gene. Diagnostic criteria were defined by Evans, revised by Kimonis and include major and minor criteria. The authors review in particular the neuroradiological and maxillofacial characteristics of the syndrome. The authors describe the clinical presentation of two children with Gorlin-Goltz syndrome without affected first degree relatives. In both the clinical suspicion of the syndrome is raised by the presence of multiple odontogenic cysts surgically removed. Histopathological exam revealed keratocysts. None of the patients has basal cell carcinomas but both present with skeletal anomalies, namely marked pectus deformity. The absence of major diagnostic criteria like basal cell carcinomas or palmar or plantar pits in young patients delay the early diagnosis and the correct screening for medulloblastoma, basal cell carcinomas and cardiac fibromas. Odontogenic keratocysts are the most consistent clinical finding in Gorlin-Goltz syndrome in the first one or two decades of life. These patients are very sensitive to ionizing radiation, being able to develop basal cell carcinomas and meningiomas. Treatment should accomplish the complete resection of the tumors.

  8. 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.

  9. 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.

  10. Correlation between dentofacial esthetics and mental temperament: A clinical photographic analysis using visagism

    Directory of Open Access Journals (Sweden)

    Tanikonda Rambabu

    2018-01-01

    Full Text Available Background: “Visagism,” a proposed novel concept, makes it possible for the patients to express the desirable emotions and personality traits, through their smile. According to this concept, clinicians can design a smile that blends with the patient's physical appearance, personality, and desires. Aim: To establish a relation, if any, between the smile pattern (dentofacial esthetics determined by three parameters, i.e., tooth form, long axes of maxillary anterior teeth, and connection line between embrasure and the personality traits (four mental temperaments through the concept of visagism. Settings and Design: A total of 190 participants aged between 20 and 38 years from a dental college were selected for the study. Materials and Methods: The temperaments of the participants were identified using a self-reporting questionnaire. The photographs of frontal view of teeth in centric occlusion of the participants were captured, and their tooth forms, long axes, and embrasure lines were drawn using photograph editing software. The type of temperament obtained from the questionnaire for each participant was compared with that obtained from photographic evaluation. Statistical Analysis Used: The obtained data were statistically analyzed by applying Kappa statistics for kappa measure of agreement. Results: There was no agreement between temperaments derived through questionnaire and those temperaments obtained from the photographic analysis. Conclusion: Although the concept of combining the principles of smile design and mental temperaments through visagism is an appreciable idea, it lacks a practical approach to create a personalized smile for each patient by including mental temperaments at present stage.

  11. 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.

  12. 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.

  13. [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.

  14. 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....

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

    International Nuclear Information System (INIS)

    Lozić, B.; Ljubković, J.; Gabrić Pandurić, D.; Saltvig, I.; Kutsche, K.; Krželj, V.; Zemunik, T.

    2012-01-01

    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

  16. 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.

  17. Case report: Subutaneous hemangiomatosis causing Kasabach-Merritt syndrome – MRI features

    International Nuclear Information System (INIS)

    Jain, Tarun P; Sharma, Raju; Gupta, Rohini

    2008-01-01

    Hemangiomatosis is an uncommon entity in which there is diffuse infiltration of soft tissue or bone by hemangioma. Kasabach-Merritt syndrome is an uncommon complication of large hemangiomas, in which there is thrombocytopenia and coagulopathy. Plain radiographs, in addition to showing a soft tissue mass, also show a variety of findings in the bones. MRI is the investigation of choice. A case of a 2-year-old child suffering from hemangiomatosis and a resultant Kasabach-Merritt syndrome is presented

  18. Associations between speech features and phenotypic severity in Treacher Collins syndrome.

    Science.gov (United States)

    Asten, Pamela; Akre, Harriet; Persson, Christina

    2014-04-28

    Treacher Collins syndrome (TCS, OMIM 154500) is a rare congenital disorder of craniofacial development. Characteristic hypoplastic malformations of the ears, zygomatic arch, mandible and pharynx have been described in detail. However, reports on the impact of these malformations on speech are few. Exploring speech features and investigating if speech function is related to phenotypic severity are essential for optimizing follow-up and treatment. Articulation, nasal resonance, voice and intelligibility were examined in 19 individuals (5-74 years, median 34 years) divided into three groups comprising children 5-10 years (n = 4), adolescents 11-18 years (n = 4) and adults 29 years and older (n = 11). A speech composite score (0-6) was calculated to reflect the variability of speech deviations. TCS severity scores of phenotypic expression and total scores of Nordic Orofacial Test-Screening (NOT-S) measuring orofacial dysfunction were used in analyses of correlation with speech characteristics (speech composite scores). Children and adolescents presented with significantly higher speech composite scores (median 4, range 1-6) than adults (median 1, range 0-5). Nearly all children and adolescents (6/8) displayed speech deviations of articulation, nasal resonance and voice, while only three adults were identified with multiple speech aberrations. The variability of speech dysfunction in TCS was exhibited by individual combinations of speech deviations in 13/19 participants. The speech composite scores correlated with TCS severity scores and NOT-S total scores. Speech composite scores higher than 4 were associated with cleft palate. The percent of intelligible words in connected speech was significantly lower in children and adolescents (median 77%, range 31-99) than in adults (98%, range 93-100). Intelligibility of speech among the children was markedly inconsistent and clearly affecting the understandability. Multiple speech deviations were identified in

  19. Clinical and prognostic features among children with acute encephalitis syndrome in Nepal; a retrospective study

    Directory of Open Access Journals (Sweden)

    Impoinvil Daniel E

    2011-10-01

    Full Text Available Abstract Background Acute encephalitis syndrome (AES is commonly seen among hospitalized Nepali children. Japanese Encephalitis (JE accounts for approximately one-quarter of cases. Although poor prognostic features for JE have been identified, and guide management, relatively little is reported on the remaining three-quarters of AES cases. Methods Children with AES (n = 225 were identified through admission records from two hospitals in Kathmandu between 2006 and 2008. Patients without available lumbar puncture results (n = 40 or with bacterial or plasmodium infection (n = 40 were analysed separately. The remaining AES patients with suspected viral aetiology were classified, based on positive IgM antibody in serum or cerebral spinal fluid, as JE (n = 42 or AES of unknown viral aetiology (n = 103; this latter group was sub-classified into Non-JE (n = 44 or JE status unknown (n = 59. Bad outcome was defined as death or neurological sequelae at discharge. Results AES patients of suspected viral aetiology more frequently had a bad outcome than those with bacterial or plasmodium infection (31% versus 13%; P = 0.039. JE patients more frequently had a bad outcome than those with AES of unknown viral aetiology (48% versus 24%; P = 0.01. Bad outcome was independently associated in both JE and suspected viral aetiology groups with a longer duration of fever pre-admission (P = 0.007; P = 0.002 respectively and greater impairment of consciousness (P = 0.02; P Conclusions Nepali children with AES of suspected viral aetiology or with JE frequently suffered a bad outcome. Despite no specific treatment, patients who experienced a shorter duration of fever before hospital admission more frequently recovered completely. Prompt referral may allow AES patients to receive potentially life-saving supportive management. Previous studies have indicated supportive management, such as fluid provision, is associated with better outcome in JE. The lower weight and higher

  20. 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

  1. 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

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

    Science.gov (United States)

    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 To address clinical and genetic differences between DS-ALL and non-DS-ALL and to identify prognostic factors in DS-ALL, we ascertained and reviewed all 128 pediatric DS-ALL diagnosed in the Nordic countries between 1981 and 2010. Their clinical and genetic features were compared with those of the 4,647 B-cell precursor (BCP) ALL cases diagnosed during the same time period. Results All 128 DS-ALL were BCP ALL, comprising 2.7% of all such cases. The 5-year event-free survival (EFS) and overall survival (OS) were significantly (P = 0.026 and P = 0.003, respectively) worse for DS-ALL patients with white blood cell counts ≥50 × 109/l. The age distributions varied between the DS and non-DS cases, with age peaks at 2 and 3 years, respectively; none of the DS patients had infant ALL (P = 0.029). The platelet counts were lower in the DS-ALL group (P = 0.005). Abnormal karyotypes were more common in non-DS-ALL (P < 0.0001), and there was a significant difference in the modal number distribution, with only 2% high hyperdiploid DS-ALL cases (P < 0.0001). The 5-year EFS and 5-year OS were significantly worse for DS-ALL (0.574 and 0.691, respectively) compared with non-DS-ALL (0.783 and 0.894, respectively) in the NOPHO ALL-1992/2000 protocols (P < 0.001). Conclusions The present study adds further support for genetic and clinical differences between DS-ALL and non-DS-ALL. PMID:24726034

  3. The impact of obesity on clinical, metabolic and hormonal features in patients with polycystic ovary syndrome

    Directory of Open Access Journals (Sweden)

    Serap Baydur Şahin

    2014-12-01

    Full Text Available Objectives: Our aim was to compare the clinical, hormonal and metabolic features between overweight and obese patients with PCOS and normal weight women with polycystic ovary syndrome (PCOS. Methods: 119 patients with PCOS (15-39 years were included in the study. We evaluated anthropometric, hormonal and metabolic parameters in all patients. Results: Ferriman- Gallwey hirsutism score was similar in overweight or obese patients with PCOS (n=78 and normal weight patients with PCOS (n=41 (p=0.373. While 71.8% of the obese group had irregular menses, this ratio was 60.9% in normal weight group (p=0.160. HOMA-IR values were higher in the obese group (1.7±0.7 vs 3.3±1.7, p<0.001. Serum triglyceride (87.2±49.8 vs. 123.4±65.3 mg/dl and LDL-cholesterol levels (104.5±29.4 vs 121.7±32.9 mg/dl were higher in obese group than the normal weight group (p=0.002, p=0.006. HDL-cholesterol levels were lower in obese group (46.5±11 vs 56.7±11.7 mg/dl, p<0.001. Free testosterone levels were 3.54±2.5 pg/ml in overweight and obese group and 2.36 ± 1.2 pg/ml in normal weight group (p = 0.016. While BMI was positively correlated with age (r=0.210, waist circumference (r=0.916, systolic (r=0.238 and diastolic blood pressure (r=0.181, insulin (r=0.635, HOMA-IR (r=0.650, total-C ( r=0.242, LDL-C (r=0.295, triglyceride (r=0.424 and total testosterone (r=0.230, it was negatively correlated with HDL-C (r=-0.476. Conclusion: Obesity did not influence hirsutism and menstruel regularity in patients with PCOS in this study, however obesity deteriorated insulin sensitivity and lipid profile. J Clin Exp Invest 2014; 5 (4: 567-571

  4. [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.

  5. Distal trisomy 10q syndrome, report of a patient with duplicated q24.31 – qter, autism spectrum disorder and unusual features

    Science.gov (United States)

    Al-Sarraj, Yasser; Al-Khair, Hakam Abu; Taha, Rowaida Ziad; Khattab, Namat; El Sayed, Zakaria H; Elhusein, Bushra; El-Shanti, Hatem

    2014-01-01

    Key Clinical Message We report on a patient with distal trisomy 10q syndrome presenting with a few previously undescribed physical features, as well as, autism spectrum disorder (ASD). We recommend that patients with distal trisomy 10q syndrome should have a behavioral evaluation for ASD for the early institution of therapy. PMID:25614812

  6. Stevens-Johnson syndrome and toxic epidermal necrolysis due to anticonvulsants share certain clinical and laboratory features with drug-induced hypersensitivity syndrome, despite differences in cutaneous presentations.

    Science.gov (United States)

    Teraki, Y; Shibuya, M; Izaki, S

    2010-10-01

    Drug-induced hypersensitivity syndrome (DIHS)/drug rash with eosinophilia and systemic symptoms (DRESS) syndrome is characterized by late disease onset, fever, rash, hepatic dysfunction, haematological abnormalities, lymphadenopathy and often, human herpesvirus (HHV) reactivation. The diagnosis of DIHS is based on the combined presence of these findings. Anticonvulsants are a major cause of DIHS and may also cause Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN). We examined whether SJS/TEN due to anticonvulsants display similar clinical and laboratory features seen in DIHS. Patients diagnosed with SJS or TEN due to anticonvulsants (n = 8) were examined and their clinical features and laboratory findings were compared with patients with anticonvulsant-related DIHS (n = 6). Seven of the eight patients with SJS/TEN developed symptoms > 3 weeks after starting anticonvulsants. Hepatic dysfunction was present in six patients with SJS/TEN and five patients with DIHS. Leucocytosis and/or eosinophilia was noted in seven patients with SJS/TEN and four patients with DIHS. Only one patient in the SJS/TEN group had atypical lymphocytosis; this was present in four patients with DIHS. Reactivation of HHV-6 was detected in one of the four patients tested in the SJS/TEN group, although it was seen in five of the six patients with DIHS. TSJS/TEN due to anticonvulsants may exhibit some clinical and laboratory features of DIHS. The nature of the cutaneous involvement should be emphasized in the diagnosis of DIHS. © 2009 The Author(s). Journal compilation © 2009 British Association of Dermatologists.

  7. Age-related differences in features associated with polycystic ovary syndrome in normogonadotrophic oligo-amenorrhoeic infertile women of reproductive years

    NARCIS (Netherlands)

    H. Bili; B. Imani (Babak); M.J.C. Eijkemans (René); B.C.J.M. Fauser (Bart); J.S.E. Laven (Joop)

    2001-01-01

    textabstractOBJECTIVE: To assess the effect of age on clinical, endocrine and sonographic features associated with polycystic ovary syndrome (PCOS) in normogonadotrophic anovulatory infertile women of reproductive years. DESIGN: Cross-sectional study. METHODS: Four hundred and

  8. Exercise-induced hypertension in men with metabolic syndrome: anthropometric, metabolic, and hemodynamic features.

    Science.gov (United States)

    Gaudreault, Valérie; Després, Jean-Pierre; Rhéaume, Caroline; Alméras, Natalie; Bergeron, Jean; Tremblay, Angelo; Poirier, Paul

    2013-02-01

    Metabolic syndrome is associated with increased cardiac morbidity. The aim of this study was to evaluate exercise-induced hypertension (EIH) in men with metabolic syndrome and to explore potential associations with anthropometric and metabolic variables. A total of 179 normotensive men with metabolic syndrome underwent a maximal symptom-limited treadmill test. Blood pressure was measured at 5-min rest prior to exercise testing (anticipatory blood pressure), at every 3 min during the exercise, and during the recovery period. EIH was defined as maximum systolic blood pressure (SBP) ≥220 mmHg and/or maximum diastolic blood pressure (DBP) ≥100 mmHg. Of the 179 men, 87 (47%) presented EIH. Resting blood pressure values at baseline were 127±10/83±6 mmHg in EIH and 119±9/80±6 mmHg (P=0.01 for both) in normal blood pressure responders to exercise. Anticipatory SBP and DPS were higher in the group with EIH (P=0.001). Subjects with EIH presented higher waist circumference (WC) (Pmetabolic syndrome showed EIH. These men are characterized by a worsened metabolic profile. Our data suggest that a treadmill exercise test may be helpful to identify a potentially higher risk metabolic syndrome subset of subjects.

  9. Shared genetic variance between the features of the metabolic syndrome: Heritability studies

    NARCIS (Netherlands)

    Povel, C.M.; Boer, J.M.A.; Feskens, E.J.M.

    2011-01-01

    Heritability estimates of MetS range from approximately 10%–30%. The genetic variation that is shared among MetS features can be calculated by genetic correlation coefficients. The objective of this paper is to identify MetS feature as well as MetS related features which have much genetic variation

  10. Pituitary and ovarian abnormalities demonstrated by CT and ultrasound in children with features of the McCune-Albright syndrome

    International Nuclear Information System (INIS)

    Rieth, K.G.; Comite, F.; Shawker, T.H.; Cutler, G.B. Jr.

    1984-01-01

    In a random series of 97 children referred to the National Institutes of Health with a presumptive diagnosis of precocious puberty, eight girls were found to have features of the McCune-Albright syndrome, including fibrous dysplasia of bone and/or skin lesions resembling cafe au lait spots. Radiographic evaluation of these patients included computed tomography of the head and pelvic ultrasound. The pituitary glands were suspicious for abnormality in five of the eight girls. Seven girls underwent pelvic ultrasound, and in all of them the ovaries were considered to be abnormal for their chronological age; in addition, two had functional ovarian cysts. The role of diagnostic radiological studies in the diagnosis of this syndrome is discussed

  11. 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.

  12. 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.

  13. 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

  14. Confocal and dermoscopic features of basal cell carcinoma in Gorlin-Goltz syndrome: A case report.

    Science.gov (United States)

    Casari, Alice; Argenziano, Giuseppe; Moscarella, Elvira; Lallas, Aimilios; Longo, Caterina

    2017-05-01

    Gorlin-Goltz (GS) syndrome is an autosomal dominant disease linked to a mutation in the PTCH gene. Major criteria include the onset of multiple basal cell carcinoma (BCC), keratocystic odontogenic tumours in the jaws and bifid ribs. Dermoscopy and reflectance confocal microscopy represent imaging tools that are able to increase the diagnostic accuracy of skin cancer in a totally noninvasive manner, without performing punch biopsies. Here we present a case of a young woman in whom the combined approach of dermoscopy and RCM led to the identification of multiple small inconspicuous lesions as BCC and thus to the diagnosis of GS syndrome. © 2016 The Australasian College of Dermatologists.

  15. Post-traumatic complex regional pain syndrome: clinical features and epidemiology

    Science.gov (United States)

    Ratti, Chiara; Nordio, Andrea; Resmini, Giuseppina; Murena, Luigi

    2015-01-01

    Summary Complex Regional Pain Syndrome (CRPS) is a chronic pain condition that occurs after a tissue injury (fractures, sprain, surgery) of the upper or lower extremities. A clear pathophysiological mechanism has not been established yet and different patterns are considered to play a role in the genesis of the disease. The diagnosis is made by different diagnosis criteria and a gold standard has not been established yet. Incidence of CRPS is unclear and large prospective studies on the incidence and prevalence of CRPS are scarce. The aim of this review is to give an overview on the prevalent data regarding this chronic syndrome. PMID:27134626

  16. 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.

  17. 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.

  18. 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.

  19. 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

  20. 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.

  1. "Silent" Sleep Apnea in Dentofacial Deformities and Prevalence of Daytime Sleepiness After Orthognathic and Intranasal Surgery.

    Science.gov (United States)

    Posnick, Jeffrey C; Adachie, Anayo; Singh, Neeru; Choi, Elbert

    2018-04-01

    The purposes of this study were to determine the occurrence of undiagnosed "silent" obstructive sleep apnea (OSA) in dentofacial deformity (DFD) patients at initial surgical presentation and to report on the level of daytime sleepiness in DFD patients with OSA and chronic obstructive nasal breathing (CONB) after undergoing bimaxillary, chin, and intranasal surgery. A retrospective cohort study of patients with a bimaxillary DFD and CONB was implemented. Patients were divided into those with no OSA (group I) and those with OSA (group II). Group II was further subdivided into patients referred with polysomnogram (PSG)-confirmed OSA (group IIa) and those with a diagnosis of OSA only after surgical consultation, airway evaluation, and a positive PSG (group IIb). Group II patients were analyzed at a minimum of 1 year after surgery (range, 1 to 10 years) for daytime sleepiness with the Epworth Sleepiness Scale. Patients with postoperative excessive daytime sleepiness were assessed for risk factors and continued need for OSA treatment. Patients in group II were studied to determine which DFD patterns were most associated with OSA. We compared the prevalence of OSA between our study population and the general population. Two hundred sixty-two patients met the inclusion criteria. Of these, 23% (60 of 262) had PSG-confirmed OSA (group II). This rate was much higher than that found in the general population. Of the patients, 7% (19 of 262) were known to have OSA at initial surgical consultation (group IIa). An additional 16% (41 of 262) were later confirmed by PSG to have OSA (group IIb). Patients with primary mandibular deficiency and short face DFDs were most likely to have OSA (P surgery. A significant association was found between group II patients with postoperative excessive daytime sleepiness ("sleepy" or "very sleepy") and a preoperative body mass index category of overweight (P = .026). Our study found silent OSA to be frequent in the DFD population. The

  2. 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

  3. 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

  4. 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.

  5. Cushing's syndrome and fetal features resurgence in adrenal cortex-specific Prkar1a knockout mice.

    Directory of Open Access Journals (Sweden)

    Isabelle Sahut-Barnola

    2010-06-01

    Full Text Available Carney complex (CNC is an inherited neoplasia syndrome with endocrine overactivity. Its most frequent endocrine manifestation is primary pigmented nodular adrenocortical disease (PPNAD, a bilateral adrenocortical hyperplasia causing pituitary-independent Cushing's syndrome. Inactivating mutations in PRKAR1A, a gene encoding the type 1 alpha-regulatory subunit (R1alpha of the cAMP-dependent protein kinase (PKA have been found in 80% of CNC patients with Cushing's syndrome. To demonstrate the implication of R1alpha loss in the initiation and development of PPNAD, we generated mice lacking Prkar1a specifically in the adrenal cortex (AdKO. AdKO mice develop pituitary-independent Cushing's syndrome with increased PKA activity. This leads to autonomous steroidogenic genes expression and deregulated adreno-cortical cells differentiation, increased proliferation and resistance to apoptosis. Unexpectedly, R1alpha loss results in improper maintenance and centrifugal expansion of cortisol-producing fetal adrenocortical cells with concomitant regression of adult cortex. Our data provide the first in vivo evidence that loss of R1alpha is sufficient to induce autonomous adrenal hyper-activity and bilateral hyperplasia, both observed in human PPNAD. Furthermore, this model demonstrates that deregulated PKA activity favors the emergence of a new cell population potentially arising from the fetal adrenal, giving new insight into the mechanisms leading to PPNAD.

  6. 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...

  7. 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....

  8. 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

  9. 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

  10. 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.

  11. Giant cell lesion of the jaw as a presenting feature of Noonan syndrome.

    Science.gov (United States)

    Sinnott, Bridget P; Patel, Maya

    2018-05-30

    This is a case of a 20-year-old woman who presented with a left jaw mass which was resected and found to be a giant cell granuloma of the mandible. Her history and physical examination were suggestive for Noonan syndrome which was confirmed with genetic testing and the finding of a PTPN11 gene mutation which has rarely been associated with giant cell lesions of the jaw. Given her particular genetic mutation and the presence of a giant cell lesion, we present a case of Noonan-like/multiple giant cell lesion syndrome. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  12. 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

    2018-06-01

    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 Elsevier Masson SAS. All rights reserved.

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

    OpenAIRE

    Luca M; Bordone A; Luca A; Patti A; Sortino G; Calandra C

    2013-01-01

    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...

  15. 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

  16. Main neuroendocrine features, diagnosis and therapeutic possibilities in the chronic fatigue syndrome, an underdiagnosed entity.

    Science.gov (United States)

    Amihăesei, Ioana Cristina; Cojocaru, Elena

    2014-01-01

    Chronic fatigue syndrome is characterized by severe, persistent fatigue which is not relieved by rest and is not associated to other medical conditions. Other common symptoms are including concentration and memory impairment, muscle and multiple joints pain, extreme exhaustion after physical or mental exertions, irritable bowel syndrome-like symptoms and depression, anxiety, mood swings and panic attacks. Etiology of the syndrome is not yet clear, post-viral and stress hypotheses were not verified. Diagnosis is confirmed in case of new onset of severe fatigue, for six consecutive months or more; fatigue is leading to significant reduction of the activity levels and is accompanied by other four or more of the specific associated symptoms, which are also lasting for six months or longer. The management of the disease is based on cognitive behavioral therapy, graded exercise therapy and pacing; medication plays a minor role in therapy. The occupational status is severely affected, more than half of the cases being unable to work. Full recovery rate is in average of about 5%.

  17. 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.

  18. Clinical and genetic features of dyskeratosis congenita, cryptic dyskeratosis congenita, and Hoyeraal-Hreidarsson syndrome in Japan.

    Science.gov (United States)

    Yamaguchi, Hiroki; Sakaguchi, Hirotoshi; Yoshida, Kenichi; Yabe, Miharu; Yabe, Hiromasa; Okuno, Yusuke; Muramatsu, Hideki; Takahashi, Yoshiyuki; Yui, Shunsuke; Shiraishi, Yuichi; Chiba, Kenichi; Tanaka, Hiroko; Miyano, Satoru; Inokuchi, Koiti; Ito, Etsuro; Ogawa, Seishi; Kojima, Seiji

    2015-11-01

    Dyskeratosis congenita (DKC) is an inherited bone marrow failure (BMF) syndrome typified by reticulated skin pigmentation, nail dystrophy, and mucosal leukoplakia. Hoyeraal-Hreidarsson syndrome (HHS) is considered to be a severe form of DKC. Unconventional forms of DKC, which develop slowly in adulthood but without the physical anomalies characteristic of DKC (cryptic DKC), have been reported. Clinical and genetic features of DKC have been investigated in Caucasian, Black, and Hispanic populations, but not in Asian populations. The present study aimed to determine the clinical and genetic features of DKC, HHS, and cryptic DKC among Japanese patients. We analyzed 16 patients diagnosed with DKC, three patients with HHS, and 15 patients with cryptic DKC. We found that platelet count was significantly more depressed than neutrophil count or hemoglobin value in DKC patients, and identified DKC patients with large deletions in the telomerase reverse transcriptase and cryptic DKC patients with RTEL1 mutations on both alleles. This led to some patients previously considered to have unclassifiable BMF being diagnosed with cDKC through identification of new gene mutations. It thus seems important from a clinical viewpoint to re-examine the clinical characteristics, frequency of genetic mutations, and treatment efficacy in DKC, HHS, and cDKC.

  19. 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.

  20. Cockayne's syndrome: correlation of clinical features with cellular sensitivity of RNA synthesis to UV irradiation

    Energy Technology Data Exchange (ETDEWEB)

    Lehmann, A.R.; Thompson, A.F.; Harcourt, S.A. (Medical Research Council, Brighton (United Kingdom). Cell Mutation Unit); Stefanini, Miria (Consiglio Nazionale delle Ricerche, Pavia (Italy). Ist. di Genetica Biochimica ed Evoluzionistica); Norris, P.G. (Addenbrooke' s Hospital, Cambridge (United Kingdom))

    1993-08-01

    Cockayne's syndrome (CS) is a rare autosomal recessive disorder with dwarfism, mental retardation, and otherwise clinically heterogeneous features. In cultured CS fibroblasts, the failure of RNA synthesis to recover to normal rates after UV-C irradiation provides a useful and relatively simple diagnostic test. We have measured post-UV-C RNA synthesis in 52 patients for whom a clinical diagnosis of CS was considered a possibility. Twenty-nine patients showed the defect characteristic of CS cells, and 23 had a normal response. We have attempted to correlate the cellular diagnosis with the different clinical features of the disorder. Clinical details of the patients were obtained from referring clinicians in the form of a questionnaire. Our results show that, apart from the cardinal features of dwarfism and mental retardation, sun sensitivity correlated best with a positive cellular diagnosis. Pigmentary retinopathy, gait defects, and dental caries were also good positive indicators, although several patients with a positive cellular diagnosis did not have these features. (Author).

  1. 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.

  2. Analysis on endocrine and metabolic features of different phenotypes of polycystic ovary syndrome patients.

    Science.gov (United States)

    Li, Feng; Yao, Li; Wu, Hong; Cao, Shihong

    2016-09-01

    To discuss the manifestations of endocrine and metabolism for polycystic ovary syndrome patients with different phenotype. This study selected 226 cases of Rotterdam Standard diagnosed polycystic ovary syndrome patients in People's Hospital of Zhengzhou from October 2013 to February 2015. The control group was the 100 cases of non hyperandrogen menstrual women as the control group. Polycystic ovary syndrome included 4 phenotype: /or anovulatio (O) combined with hyperandrogenism (H) and polycystic ovary morphology (P), phenotype of O and P, phenotype of H and P, and phenotype of O and P. All patients were detected for the clinical endocrine and metabolism related parameters. The phenotype of O and P occupied 55.8%, it had significant difference on the comparison between control group and the luteinizing hormone (LH) and luteinizing hormone/follicle stimulating hormone (LH/FSH) of phenotype of O, H and P, phenotype of O and H and phenotype of O and P; the testosterone (T) of phenotype of O,H and P and phenotype of O and H was apparently higher than phenotype of O and P and control group; The total cholesterol (TC) and triglyceride (TG) in phenotype of O, H and P was greatly higher than phenotype of O and P and control group. The phenotype of O and P was the most common phenotype in PCOS patients. It was same for the clinical endocrine and metabolism of two classic characteristics in PCOS. Compared to other PCOS phenotype, the metabolism in phenotype of O and P was lower. The phenotype classification of PCOS patients could better guide clinical individualized treatment in patients with PCOS.

  3. 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)

  4. 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

  5. FEATURES OF PSYCHOEMOTIONAL STATUS IN CHILDREN WITH VARIOUS FORMS OF IRRITABLE BOWEL SYNDROME

    Directory of Open Access Journals (Sweden)

    O.K. Botviniev

    2012-01-01

    Full Text Available The purpose of the study was to investigate the characteristics of mental and emotional status of children with different forms of irritable bowel syndrome (IBS. The study of mental and emotional status in 67 children aged 12 to 17 years with various IBS was carried out. The high frequency of dysthymia and a high level of anxiety, combined with a variety of character accentuations have been revealed. It is advisable to conduct psychological counseling and inclusion in the complex therapy of psychotropic drugs for children with CRK. 

  6. The Ten Years Survey on Clinical and Epidemiologic Features of Guillain-Barre Syndrome in Sina Hospital, Hamadan, Iran

    Directory of Open Access Journals (Sweden)

    Sh. Mazaheri

    2007-07-01

    Full Text Available Introduction & Objective: Since the elimination of poliomyelitis from Iran, Guillain–Barre Syndrome (GBS has been the leading cause of acute flaccid paralysis. There are a few studies concerning clinical and epidemiologic features of Guillain-Barré syndrome in our country, therefore we evaluated ten years clinical and epidemiologic features of GBS in Sina hospital, Hamadan, Iran.Materials & Methods: In a retrospective descriptive study, we reviewed 80 records of patients with GBS who were hospitalized in Sina Hospital (Hamadan, Iran during 1993-2003. Because of incomplete data we excluded 29 patients from the study. We evaluated clinical and epidemiologic features, risk factors, lab data and management protocols. Complete remission defined as complete improved patient four weeks after the GBS treatment and partial remission as the continuation of the symptom after that time. All the data extracted manually and analyzed with SPSS software.Results: From 51 patients, 36 (70.59% were men and 15 (29.41% women, with a proportion of 2.4 men to 1 woman. The age ranged from 3 to 85 years. The highest frequency was observed in patients aged 11 to 20 (35.28%. 13 patients were student, 11 were house keeper, 11 were farmer, 7 were worker. 29 patients (56.84% had risk factors like respiratory and gastrointestinal track infection, surgery and fever before the disease onset. Complete and partial remission occurred in 17 and 28 patients respectively and 5 patients did not improve. Management failure occurred in 3 (8.83%, 2 (22.23% and 5 (62.5% patients who underwent IVIG, plasmapheresis and corticosteroids respectively.Conclusion: Our data was not similar to other studies in term of male to female proportion, age distribution and management protocols, therefore geographical pattern of the disease should be concerned for better patients’ management.

  7. 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.

  8. 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)

  9. A rare 47 XXY/46 XX mosaicism with clinical features of Klinefelter syndrome.

    Science.gov (United States)

    Mohd Nor, Noor Shafina; Jalaludin, Muhammad Yazid

    2016-01-01

    47 XXY/46 XX mosaicism with characteristics suggesting Klinefelter syndrome is very rare and at present, only seven cases have been reported in the literature. We report an Indian boy diagnosed as variant of Klinefelter syndrome with 47 XXY/46 XX mosaicism at age 12 years. He was noted to have right cryptorchidism and chordae at birth, but did not have surgery for these until age 3 years. During surgery, the right gonad was atrophic and removed. Histology revealed atrophic ovarian tissue. Pelvic ultrasound showed no Mullerian structures. There was however no clinical follow up and he was raised as a boy. At 12 years old he was re-evaluated because of parental concern about his 'female' body habitus. He was slightly overweight, had eunuchoid body habitus with mild gynaecomastia. The right scrotal sac was empty and a 2mls testis was present in the left scrotum. Penile length was 5.2 cm and width 2.0 cm. There was absent pubic or axillary hair. Pronation and supination of his upper limbs were reduced and x-ray of both elbow joints revealed bilateral radioulnar synostosis. The baseline laboratory data were LH XX[67] with SRY positive. Laparoscopic examination revealed no Mullerian structures. Insisting on an adequate number of cells (at least 50) to be examined during karyotyping is important so as not to miss diagnosing mosaicism.

  10. Comparison of initial high resolution computed tomography features in viral pneumonia between metapneumovirus infection and severe acute respiratory syndrome

    International Nuclear Information System (INIS)

    Wong, Cheuk Kei Kathy; Lai, Vincent; Wong, Yiu Chung

    2012-01-01

    Objective: To review and compare initial high resolution computed tomography (HRCT) findings in patients with metapneumovirus pneumonia and severe acute respiratory syndrome (SARS-Coronovirus). Materials and methods: 4 cases of metapneumovirus pneumonia (mean age of 52.3 years) in an institutional outbreak (Castle Peak Hospital) in 2008 and 38 cases of SARS-coronovirus (mean age of 39.6 years) admitted to Tuen Mun hospital during an epidemic outbreak in 2003 were included. HRCT findings of the lungs for all patients were retrospectively reviewed by two independent radiologists. Results: In the metapneumovirus group, common HRCT features were ground glass opacities (100%), consolidation (100%), parenchymal band (100%), bronchiectasis (75%). Crazy paving pattern was absent. They were predominantly subpleural and basal in location and bilateral involvement was observed in 50% of patients. In the SARS group, common HRCT features were ground glass opacities (92.1%), interlobular septal thickening (86.8%), crazy paving pattern (73.7%) and consolidation (68%). Bronchiectasis was not seen. Majority of patient demonstrated segmental or lobar in distribution and bilateral involvement was observed in 44.7% of patients. Pleural effusion and lymphadenopathy were of consistent rare features in both groups. Conclusion: Ground glass opacities, interlobular septal thickening and consolidations were consistent HRCT manifestations in both metapneumovirus infection and SARS. The presence of bronchiectasis (0% in SARS) may point towards metapneumovirus while crazy paving pattern is more suggestive of SARS.

  11. 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.

  12. Unusual cortical bone features in a patient with gorlin-goltz syndrome: a case report.

    Science.gov (United States)

    Tarnoki, Adam Domonkos; Tarnoki, David Laszlo; Klara Kiss, Katalin; Bata, Pal; Karlinger, Kinga; Banvolgyi, Andras; Wikonkal, Norbert; Berczi, Viktor

    2014-12-01

    Gorlin-Goltz syndrome (GGS) consists of ectodermal and mesodermal abnormalities. In this case report we will investigate lower extremity lesions of GGS. A 52-year-old man with GGS underwent skull and lower extremity computer tomography. Radiographic findings included cervical spondylosis, transparent areas with slurred margins, and cerebral falx calcification. Tibial and fibular specific cortical lesions (thin cortical and subcortical cystic lesions) were seen on the radiography, which was confirmed by computer tomography. To our knowledge, this is the first report of such a long lesion of the tibia and fibula. Specific lower extremity cortical lesions (thin cortical and subcortical cystic lesions) may occur and these abnormalities can be found on radiography or CT, which are most probably attributed to retinoid treatment.

  13. Unusual Cortical Bone Features in a Patient with Gorlin-Goltz Syndrome: A Case Report

    International Nuclear Information System (INIS)

    Tarnoki, Adam Domonkos; Tarnoki, David Laszlo; Klara Kiss, Katalin; Bata, Pal; Karlinger, Kinga; Banvolgyi, Andras; Wikonkal, Norbert; Berczi, Viktor

    2014-01-01

    Gorlin-Goltz syndrome (GGS) consists of ectodermal and mesodermal abnormalities. In this case report we will investigate lower extremity lesions of GGS. A 52-year-old man with GGS underwent skull and lower extremity computer tomography. Radiographic findings included cervical spondylosis, transparent areas with slurred margins, and cerebral falx calcification. Tibial and fibular specific cortical lesions (thin cortical and subcortical cystic lesions) were seen on the radiography, which was confirmed by computer tomography. To our knowledge, this is the first report of such a long lesion of the tibia and fibula. Specific lower extremity cortical lesions (thin cortical and subcortical cystic lesions) may occur and these abnormalities can be found on radiography or CT, which are most probably attributed to retinoid treatment

  14. Comparative skeletal features between Homo floresiensis and patients with primary growth hormone insensitivity (Laron Syndrome).

    Science.gov (United States)

    Hershkovitz, Israel; Kornreich, Liora; Laron, Zvi

    2007-10-01

    Comparison between the skeletal remains of Homo floresiensis and the auxological and roentgenological findings in a large Israeli cohort of patients with Laron Syndrome (LS, primary or classical GH insensitivity or resistance) revealed striking morphological similarities, including extremely small stature and reduced cranial volume. LS is an autosomal recessive disease caused by a molecular defect of the Growth Hormone (GH) receptor or in the post-receptor cascades. Epidemiological studies have shown that LS occurs more often in consanguineous families and isolates, and it has been described in several countries in South East Asia. It is our conclusion that the findings from the island of Flores, which were attributed to a new species of the genus Homo, may in fact represent a local, highly inbred, Homo sapiens population in whom a mutation for the GH receptor had occurred. (c) 2007 Wiley-Liss, Inc.

  15. 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.

  16. 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.

  17. Novel features of 3q29 deletion syndrome: Results from the 3q29 registry

    Science.gov (United States)

    Glassford, Megan R.; Rosenfeld, Jill A.; Freedman, Alexa A.; Zwick, Michael E.

    2016-01-01

    3q29 deletion syndrome is caused by a recurrent, typically de novo heterozygous 1.6 Mb deletion, but because incidence of the deletion is rare (1 in 30,000 births) the phenotype is not well described. To characterize the range of phenotypic manifestations associated with 3q29 deletion syndrome, we have developed an online registry (3q29deletion.org) for ascertainment of study subjects and phenotypic data collection via Internet‐based survey instruments. We report here on data collected during the first 18 months of registry operation, from 44 patients. This is the largest cohort of 3q29 deletion carriers ever assembled and surveyed in a systematic way. Our data reveal that 28% of registry participants report neuropsychiatric phenotypes, including anxiety disorder, panic attacks, depression, bipolar disorder, and schizophrenia. Other novel findings include a high prevalence (64%) of feeding problems in infancy and reduced weight at birth for 3q29 deletion carriers (average reduction 13.9 oz (394 g), adjusted for gestational age and sex, P = 6.5e‐07). We further report on the frequency of heart defects, autism, recurrent ear infections, gastrointestinal phenotypes, and dental phenotypes, among others. We also report on the expected timing of delayed developmental milestones. This is the most comprehensive description of the 3q29 deletion phenotype to date. These results are clinically actionable toward improving patient care for 3q29 deletion carriers, and can guide the expectations of physicians and parents. These data also demonstrate the value of patient‐reported outcomes to reveal the full phenotypic spectrum of rare genomic disorders. © 2016 The Authors. American Journal of Medical Genetics Part A Published by Wiley Periodicals, Inc. PMID:26738761

  18. Features of electrocoagulation syndrome after endoscopic submucosal dissection for colorectal neoplasm.

    Science.gov (United States)

    Yamashina, Takeshi; Takeuchi, Yoji; Uedo, Noriya; Hamada, Kenta; Aoi, Kenji; Yamasaki, Yasushi; Matsuura, Noriko; Kanesaka, Takashi; Akasaka, Tomofumi; Yamamoto, Sachiko; Hanaoka, Noboru; Higashino, Koji; Ishihara, Ryu; Iishi, Hiroyasu

    2016-03-01

    Endoscopic submucosal dissection (ESD) is a promising treatment for large gastrointestinal superficial neoplasms, although it is technically difficult, and perforation and delayed bleeding are well-known adverse events. However, there have been no large studies about electrocoagulation syndrome after colorectal ESD. The aim of this study was to evaluate the incidence and clinical significant risk factors of post-ESD coagulation syndrome (PECS). This was a retrospective cohort study conducted in a referral cancer center. A total of 336 patients with colorectal neoplasms (143 adenomas or serrated lesions and 193 carcinomas) underwent ESD from January 2011 to June 2013. Incidence, outcome, and factors associated with occurrence of PECS were investigated. Occurred in 32 patients (9.5%). The median time until PECS was 15.5 h, and the median period of PECS was 32.5 h. Fever (≥37.6 °C) after ESD was found in 41% of the PECS group and 9% of the non-PECS group (P < 0.001). All PECS cases were managed conservatively. On multivariate analysis, female patients (odds ratio [OR] = 3.2, P = 0.002), lesion location at ascending colon and cecum (OR = 3.5, P = 0.001), and resected specimen ≥40 mm (OR = 2.1, P = 0.05) were independent risk factors for PECS. Occurred in 32 patients (9.5%) with colorectal ESD; however, all cases had a good outcome with conservative management. Female sex, tumor location at the ascending colon and cecum, and resected specimen ≥40 mm were independently significant risk factors for PECS. © 2015 Journal of Gastroenterology and Hepatology Foundation and John Wiley & Sons Australia, Ltd.

  19. 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.

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

    Directory of Open Access Journals (Sweden)

    Demet Arslan

    2017-06-01

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

  1. 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.

  2. 1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency

    Directory of Open Access Journals (Sweden)

    Natália Duarte Linhares

    Full Text Available Abstract Deletion-induced hemizygosity may unmask deleterious autosomal recessive variants and be a cause of the phenotypic variability observed in microdeletion syndromes. We performed complete exome sequencing (WES analysis to examine this possibility in a patient with 1p13.2 microdeletion. Since the patient displayed clinical features suggestive of Noonan Syndrome (NS, we also used WES to rule out the presence of pathogenic variants in any of the genes associated with the different types of NS. We concluded that the clinical findings could be attributed solely to the 1p13.2 haploinsufficiency. Retrospective analysis of other nine reported patients with 1p13.2 microdeletions showed that six of them also presented some characteristics of NS. In all these cases, the deleted segment included the NRAS gene. Gain-of-function mutations of NRAS gene are causally related to NS type 6. Thus, it is conceivable that NRAS haploinsufficiency and gain-of-function mutations may have similar clinical consequences. The same phenomenon has been described for two other genes belonging to the Ras/MAPK pathway: MAP2K2 and SHOC2. In conclusion, we here report genotype-phenotype correlations in patients with chromosome 1p13.2 microdeletions and we propose that NRAS may be a critical gene for the NS characteristics in the patients.

  3. Mutation Spectrum and Phenotypic Features in Noonan Syndrome with PTPN11 Mutations: Definition of Two Novel Mutations.

    Science.gov (United States)

    Atik, Tahir; Aykut, Ayca; Hazan, Filiz; Onay, Huseyin; Goksen, Damla; Darcan, Sukran; Tukun, Ajlan; Ozkinay, Ferda

    2016-06-01

    To evaluate the spectrum of PTPN11 gene mutations in Noonan syndrome patients and to study the genotype-phenotype associations. In this study, twenty Noonan syndrome patients with PTPN11 mutations were included. The patients underwent a detailed clinical and physical evaluation. To identify inherited cases, parents of all mutation positive patients were analyzed. Thirteen different PTPN11 mutations, two of them being novel, were detected in the study group. These mutations included eleven missense mutations: p.G60A, p.D61N, p.Y62D, p.Y63C, p.E69Q, p.Q79R, p.Y279C,p.N308D, p.N308S, p.M504V, p.Q510R and two novel missense mutations: p.I56V and p.I282M. The frequency of cardiac abnormalities and short stature were found to be 80 % and 80 %, respectively. Mental retardation was not observed in patients having exon 8 mutations. No significant correlations were detected between other phenotypic features and genotypes. By identifying genotype-phenotype correlations, this study provides information on phenotypes observed in NS patients with different PTPN11 mutations.

  4. FEATURES OF INTESTINAL MICROBIOTA IN CHILDREN WITH A SYNDROME OF EXCESSIVE BACTERIAL GROWTH IN THE SMALL INTESTINE

    Directory of Open Access Journals (Sweden)

    L. A. Lityaeva

    2018-01-01

    Full Text Available The purpose of the study was to determine the features of the parietal microbiota of the intestine in children with a verified syndrome of excessive bacterial growth in the small intestine. Clinical and laboratory examination of 25 children at risk of intrauterine infection at the age of 8 months — 4 years with a verified syndrome of excess bacterial growth in the small intestine was performed based on the results of the hydrogen breath test. Investigation of the species and quantitative composition of the parietal intestinal microbiota was carried out with the help of the gas chromatography-mass spectrometry method with determination of the concentration of microbial markers by drop of blood (laboratory of bifidobacteria of the Federal Budgetary Institute of Science Moscow Research Institute of Epidemiology and Microbiology name after G.N. Gabrichevsky. It was revealed that all of them recorded a high concentration of microbial markers of gram-negative anaerobic bacteria of the colon and viruses of the Herpes family due to a deficit of representatives of priority genera (Propionibacterium Freunderherii 5-fold, Eubacterium spp. 4.8-fold, Bifidobacterium spp. 4-fold, Lactobacillus spp. 1.5-fold with an excess of endotoxin (by 1.5—2-fold and a decrease in plasmalogen (by 2-fold. These data testify to the inflammatory process of the small intestinal mucosa, which aggravates the disturbances in its functioning and confirm the informative nature of the gas chromatography and spectrometry method.

  5. 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.

  6. Fluorescence in situ hybridization (FISH screening for the 22q11.2 deletion in patients with clinical features of velocardiofacial syndrome but without cardiac anomalies

    Directory of Open Access Journals (Sweden)

    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.

  7. Gilles de la Tourette Syndrome: Clinical Features of 75 Cases from Argentina

    Directory of Open Access Journals (Sweden)

    F. Micheli

    1995-01-01

    Full Text Available A series of 75 cases of Gilles de la Tourette syndrome (GTS from Argentina, whose ages ranged from 6 to 55 with a mean of 20.02, were evaluated to compare findings with those reported for other countries. Mean age at onset was 7.44 years and mean overall duration of symptoms was 12.58 years; 6.7% of cases were mild, 49% moderate and 44.3% severe. Most frequent presenting motor tics were excessive blinking in 41 followed by head jerking in 16 and eye winking in six, while phonic tics included coprolalia in 28.0%, echolalia in 17.5% and palilalia in 10.8%. Abnormal perinatal events were reported in 40.5%, while positive family history for tics was present in 26.66%. Obsessive–compulsive behaviour was evident in 66% and attention deficit disorder in 16% of cases. Self-injurious behaviour comprised onychophagia in 28 patients, lip-biting in seven and self-slapping in eight cases. Almost half of our patients were initially interpreted as having a psychogenic disorder indicating that GTS in Argentina is most likely underdiagnosed. It may be concluded that the overall pattern of GTS is not dissimilar to that described for European, Asian and American populations, thus highlighting the previously recognized cross-cultural uniformity.

  8. 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.

  9. 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

  10. 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...

  11. 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.

  12. 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.

  13. 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.

  14. [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.

  15. Pedunculated uterine leiomyoma associated with pseudo-Meigs' syndrome and elevated CA-125 level: CT features

    International Nuclear Information System (INIS)

    Kebapci, Mahmut; Aslan, Ozgur; Kaya, Tamer; Yalcin, Omer T.; Ozalp, Sinan

    2002-01-01

    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.)

  16. "Ocular moyamoya" syndrome in a patient with features of microcephalic osteodysplastic primordial dwarfism type II.

    Science.gov (United States)

    Bang, Genie M; Kirmani, Salman; Patton, Alice; Pulido, Jose S; Brodsky, Michael C

    2013-02-01

    Primordial dwarfism refers to severely impaired growth beginning early in fetal life. There are many genetic causes of primordial dwarfism, including disorders classified as microcephalic osteodysplastic primordial dwarfism. Microcephalic osteodysplastic primordial dwarfism type II is an autosomal-recessive disease characterized by small stature, bone and dental anomalies, and characteristic facies. Affected patients have a high risk of stroke secondary to progressive cerebral vascular anomalies, which often are classified as moyamoya disease. We present the case of a boy with features suggestive of MOPD II with unilateral moyamoya cerebrovascular changes and correlative moyamoya collaterals involving the iris of the ipsilateral eye. Copyright © 2013 American Association for Pediatric Ophthalmology and Strabismus. Published by Mosby, Inc. All rights reserved.

  17. Variability in dentofacial phenotypes in four families with WNT10A mutations

    NARCIS (Netherlands)

    Vink, C.P.; Ockeloen, C.W.; Ten Kate, S.; Koolen, D.A.; Ploos van Amstel, J.K.; Kuijpers-Jagtman, A.M.; Heumen, C.C.M. van; Kleefstra, T.; Carels, C.E.

    2014-01-01

    This article describes the inter- and intra-familial phenotypic variability in four families with WNT10A mutations. Clinical characteristics of the patients range from mild to severe isolated tooth agenesis, over mild symptoms of ectodermal dysplasia, to more severe syndromic forms like

  18. The Relationship Between Sociodemographic Characteristics and Clinical Features in Burning Mouth Syndrome.

    Science.gov (United States)

    Adamo, Daniela; Celentano, Antonio; Ruoppo, Elvira; Cucciniello, Claudia; Pecoraro, Giuseppe; Aria, Massimo; Mignogna, Michele D

    2015-11-01

    To compare sociodemographic and clinical characteristics in patients with burning mouth syndrome (BMS) and their relationship with pain. Cross-sectional clinical study. University-Hospital. 75 BMS patients were enrolled. The study was conducted between September 2011 and March 2012 at the "Federico II" University of Naples. Demographic characteristics and clinical information including age, sex, educational level, marital status, job status, age at disease onset, oral symptoms, and triggers were collected via questionnaire interviews. To assess pain intensity the visual analogue scale (VAS) was administered. Descriptive statistics were collected, and Pearson Chi-square tests, Kruskal-Wallis nonparametric tests and the Spearman bivariate correlation were performed. The mean age was 61.17 (±11.75, female/male ratio = 3:1). The mean age at disease onset was 56.75 (±12.01). A low educational level (8.57 ± 4.95) and 80% of unemployment were found. Job status and age at disease onset correlated with the VAS scale (P = 0.019 and P = 0.015, respectively). Tongue morphology changes, taste disturbances, and intraoral foreign body sensation have a significant dependence on gender (P = 0.049, 0.001, and 0.045, respectively); intraoral foreign body sensation has a significant dependence on marital status (P = 0.033); taste disturbances have a significant dependence on job status. (P = 0.049); xerostomia has a significant dependence on age (P = 0.039); and tongue color changes and a bitter taste have a significant dependence on educational level (P = 0.040 and 0.022, respectively). Marital status and educational level have a significant dependence on the triggers (P = 0.036 and 0.049, respectively). The prevalence of BMS is higher in women, and in married, unemployed, and less highly educated patients. Burning is the most frequent symptom while stressful life events are the most frequent trigger reported. Wiley Periodicals, Inc.

  19. Analysis of respiratory events in obstructive sleep apnea syndrome: Inter-relations and association to simple nocturnal features.

    Science.gov (United States)

    Ghandeharioun, H; Rezaeitalab, F; Lotfi, R

    2016-01-01

    This study carefully evaluates the association of different respiration-related events to each other and to simple nocturnal features in obstructive sleep apnea-hypopnea syndrome (OSAS). The events include apneas, hypopneas, respiratory event-related arousals and snores. We conducted a statistical study on 158 adults who underwent polysomnography between July 2012 and May 2014. To monitor relevance, along with linear statistical strategies like analysis of variance and bootstrapping a correlation coefficient standard error, the non-linear method of mutual information is also applied to illuminate vague results of linear techniques. Based on normalized mutual information weights (NMIW), indices of apnea are 1.3 times more relevant to AHI values than those of hypopnea. NMIW for the number of blood oxygen desaturation below 95% is considerable (0.531). The next relevant feature is "respiratory arousals index" with NMIW of 0.501. Snore indices (0.314), and BMI (0.203) take the next place. Based on NMIW values, snoring events are nearly one-third (29.9%) more dependent to hypopneas than RERAs. 1. The more sever the OSAS is, the more frequently the apneic events happen. 2. The association of snore with hypopnea/RERA revealed which is routinely ignored in regression-based OSAS modeling. 3. The statistical dependencies of oximetry features potentially can lead to home-based screening of OSAS. 4. Poor ESS-AHI relevance in the database under study indicates its disability for the OSA diagnosis compared to oximetry. 5. Based on poor RERA-snore/ESS relevance, detailed history of the symptoms plus polysomnography is suggested for accurate diagnosis of RERAs. Copyright © 2015 Sociedade Portuguesa de Pneumologia. Published by Elsevier España, S.L.U. All rights reserved.

  20. 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...

  1. 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"…

  2. Churg-Strauss syndrome presenting as scar reactivation: histopathologic features and an illustration of 'locus minoris resistentiae'.

    Science.gov (United States)

    Gee, Sarah N; Harris, Anna C; Zimarowski, Mary Jane

    2013-05-01

    We report a 33-year-old female with cutaneous involvement by Churg-Strauss syndrome confined to surgical scars that were obtained 13 years before. She presented to the emergency department with 2-day history of fever, night sweats, right-sided weakness, hoarseness and worsening asthma symptoms. She was found to have an eosinophilia and two sub-5-mm pulmonary nodules. The patient also reported that the scars on her right thumb, inner wrist and back had been swollen, red and painful for 2 days. Examination revealed tender, erythematous, well-healed edematous scars studded with small skin colored papules. She had no clinical findings that were classic for cutaneous vasculitis. A skin biopsy of a scar revealed perivascular and palisading granulomatous inflammation consisting of histiocytes and neutrophils with leukocytoclasia. Focal vascular injury was identified. Scattered tissue eosinophils were seen. Special stains were negative for infection. Thereafter, she was started on intravenous steroids, at which point the fever, pulmonary and cutaneous symptoms subsided. Although scar sarcoidosis is a well-described phenomenon, granulomatous inflammation and vasculitis seen in Churg-Strauss syndrome exclusively manifesting in well-healed surgical scars highlights the unique features seen in this case and draws attention to the concept of locus minoris resistentiae. This case also highlights how a skin biopsy in the setting of suspected systemic vasculitis can confirm the presence of vasculitis and/or granulomatous inflammation and obviate the need for more invasive, higher risk procedures such as lung biopsy. Copyright © 2013 John Wiley & Sons A/S. Published by Blackwell Publishing Ltd.

  3. 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...

  4. 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.

  5. Craniofacial features of children with spinal deformities

    Directory of Open Access Journals (Sweden)

    Végh András

    2008-12-01

    Full Text Available Abstract Background The objective of this epidemiological study is to map the dentofacial anomalies that can be correlated to the two most frequent spinal diseases responsible for postural abnormalities and that can be clinically identified by the orthodontic examination. Methods Twenty-three children with Scheuermann's disease participated in the study (mean age: 14Y8M; SD: 1Y8M, 28 with Scoliosis (mean age: 14Y7M; SD: 2Y3M and a control group of 68 orthopedically healthy children (mean age: 14Y8M; SD: 0Y11M. Standardized orthodontic screening protocols were used to map the occlusal relations in the sagittal, vertical, and transversal dimensions, space relations of the maxillary and mandibular frontal segment, and the TMJ status and function. The examinations for the children with orthopedic disorders were supplemented by the evaluation of routine orthodontic radiograms – lateral cephalograms and panoramic X-rays. Results The majority of the dentofacial features examined revealed more and greater abnormalities among patients in the Scheuermann's disease group than in the scoliosis group. In the latter group the proportion of the TMJ symptoms and the consecutive functional deviations were greater. When comparing the values of the two spinal-disorder groups and the control group, statistically significant differences (p p Conclusion The more extended treatment of the malocclusions closely correlated to postural disorders draws attention to the indicators of a higher frequency and severity occurring in the case of the dentofacial deviations in the patients of the MSCH group who had previously been less examined.

  6. Machine Learning Algorithms Utilizing Quantitative CT Features May Predict Eventual Onset of Bronchiolitis Obliterans Syndrome After Lung Transplantation.

    Science.gov (United States)

    Barbosa, Eduardo J Mortani; Lanclus, Maarten; Vos, Wim; Van Holsbeke, Cedric; De Backer, William; De Backer, Jan; Lee, James

    2018-02-19

    Long-term survival after lung transplantation (LTx) is limited by bronchiolitis obliterans syndrome (BOS), defined as a sustained decline in forced expiratory volume in the first second (FEV 1 ) not explained by other causes. We assessed whether machine learning (ML) utilizing quantitative computed tomography (qCT) metrics can predict eventual development of BOS. Paired inspiratory-expiratory CT scans of 71 patients who underwent LTx were analyzed retrospectively (BOS [n = 41] versus non-BOS [n = 30]), using at least two different time points. The BOS cohort experienced a reduction in FEV 1 of >10% compared to baseline FEV 1 post LTx. Multifactor analysis correlated declining FEV 1 with qCT features linked to acute inflammation or BOS onset. Student t test and ML were applied on baseline qCT features to identify lung transplant patients at baseline that eventually developed BOS. The FEV 1 decline in the BOS cohort correlated with an increase in the lung volume (P = .027) and in the central airway volume at functional residual capacity (P = .018), not observed in non-BOS patients, whereas the non-BOS cohort experienced a decrease in the central airway volume at total lung capacity with declining FEV 1 (P = .039). Twenty-three baseline qCT parameters could significantly distinguish between non-BOS patients and eventual BOS developers (P machine), we could identify BOS developers at baseline with an accuracy of 85%, using only three qCT parameters. ML utilizing qCT could discern distinct mechanisms driving FEV 1 decline in BOS and non-BOS LTx patients and predict eventual onset of BOS. This approach may become useful to optimize management of LTx patients. Copyright © 2018 The Association of University Radiologists. Published by Elsevier Inc. All rights reserved.

  7. 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.

  8. Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients.

    Science.gov (United States)

    Colombi, M; Dordoni, C; Venturini, M; Ciaccio, C; Morlino, S; Chiarelli, N; Zanca, A; Calzavara-Pinton, P; Zoppi, N; Castori, M; Ritelli, M

    2017-12-01

    Classical Ehlers-Danlos syndrome (cEDS) is characterized by marked cutaneous involvement, according to the Villefranche nosology and its 2017 revision. However, the diagnostic flow-chart that prompts molecular testing is still based on experts' opinion rather than systematic published data. Here we report on 62 molecularly characterized cEDS patients with focus on skin, mucosal, facial, and articular manifestations. The major and minor Villefranche criteria, additional 11 mucocutaneous signs and 15 facial dysmorphic traits were ascertained and feature rates compared by sex and age. In our cohort, we did not observe any mandatory clinical sign. Skin hyperextensibility plus atrophic scars was the most frequent combination, whereas generalized joint hypermobility according to the Beighton score decreased with age. Skin was more commonly hyperextensible on elbows, neck, and knees. The sites more frequently affected by abnormal atrophic scarring were knees, face (especially forehead), pretibial area, and elbows. Facial dysmorphism commonly affected midface/orbital areas with epicanthal folds and infraorbital creases more commonly observed in young patients. Our findings suggest that the combination of ≥1 eye dysmorphism and facial/forehead scars may support the diagnosis in children. Minor acquired traits, such as molluscoid pseudotumors, subcutaneous spheroids, and signs of premature skin aging are equally useful in adults. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  9. Influence of prenatal EGCG treatment and Dyrk1a dosage reduction on craniofacial features associated with Down syndrome.

    Science.gov (United States)

    McElyea, Samantha D; Starbuck, John M; Tumbleson-Brink, Danika M; Harrington, Emily; Blazek, Joshua D; Ghoneima, Ahmed; Kula, Katherine; Roper, Randall J

    2016-11-15

    Trisomy 21 (Ts21) affects craniofacial precursors in individuals with Down syndrome (DS). The resultant craniofacial features in all individuals with Ts21 may significantly affect breathing, eating and speaking. Using mouse models of DS, we have traced the origin of DS-associated craniofacial abnormalities to deficiencies in neural crest cell (NCC) craniofacial precursors early in development. Hypothetically, three copies of Dyrk1a (dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A), a trisomic gene found in most humans with DS and mouse models of DS, may significantly affect craniofacial structure. We hypothesized that we could improve DS-related craniofacial abnormalities in mouse models using a Dyrk1a inhibitor or by normalizing Dyrk1a gene dosage. In vitro and in vivo treatment with Epigallocatechin-3-gallate (EGCG), a Dyrk1a inhibitor, modulated trisomic NCC deficiencies at embryonic time points. Furthermore, prenatal EGCG treatment normalized some craniofacial phenotypes, including cranial vault in adult Ts65Dn mice. Normalization of Dyrk1a copy number in an otherwise trisomic Ts65Dn mice normalized many dimensions of the cranial vault, but did not correct all craniofacial anatomy. These data underscore the complexity of the gene–phenotype relationship in trisomy and suggest that changes in Dyrk1a expression play an important role in morphogenesis and growth of the cranial vault. These results suggest that a temporally specific prenatal therapy may be an effective way to ameliorate some craniofacial anatomical changes associated with DS.

  10. 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

  11. Churg-Strauss Syndrome: The Clinical Features and Long-term Follow-up of 17 Patients

    Science.gov (United States)

    Oh, Mi-Jung; Lee, Jin-Young; Kwon, Nam-Hee

    2006-01-01

    Churg-Strauss syndrome (CSS) is a rare multi-system vasculitis; some cases have been reported in Korea. The aim of this study is to describe the clinical features, treatment outcome, and long-term follow-up of CSS from a single Korean medical center. Between 1995 and 2004, seventeen patients were diagnosed with CSS at the Department of Medicine of the Samsung Medical Center, Sungkyunkwan University School of Medicine. The diagnosis of CSS is based on the classification criteria of the American Collage of Rheumatology. All patients had asthma. As in other case series, the lung, peripheral nervous system, and skin were the most commonly involved organs. During the active stage of the disease, most of the patients exhibited peripheral blood eosinophilia and an elevated serum eosinophil cationic protein level. Ten patients were treated with pulses of methylprednisolone followed by tapering and cyclophosphamide, and the others were treated with corticosteroids alone. The outcomes after long-term follow-up were generally good. One patient who was refractory to initial treatment died of heart failure during the follow-up period. CSS was highly variable in its presentation and course. The manifestations may range from mild symptoms to life-threatening conditions. The outcome after long-term follow-up was as good as that of previous studies. PMID:16614512

  12. 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 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.

  13. 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.

  14. A Systematic Review of the Effects of Plant Compared with Animal Protein Sources on Features of Metabolic Syndrome.

    Science.gov (United States)

    Chalvon-Demersay, Tristan; Azzout-Marniche, Dalila; Arfsten, Judith; Egli, Léonie; Gaudichon, Claire; Karagounis, Leonidas G; Tomé, Daniel

    2017-03-01

    Dietary protein may play an important role in the prevention of metabolic dysfunctions. However, the way in which the protein source affects these dysfunctions has not been clearly established. The aim of the current systematic review was to compare the impact of plant- and animal-sourced dietary proteins on several features of metabolic syndrome in humans. The PubMed database was searched for both chronic and acute interventional studies, as well as observational studies, in healthy humans or those with metabolic dysfunctions, in which the impact of animal and plant protein intake was compared while using the following variables: cholesterolemia and triglyceridemia, blood pressure, glucose homeostasis, and body composition. Based on data extraction, we observed that soy protein consumption (with isoflavones), but not soy protein alone (without isoflavones) or other plant proteins (pea and lupine proteins, wheat gluten), leads to a 3% greater decrease in both total and LDL cholesterol compared with animal-sourced protein ingestion, especially in individuals with high fasting cholesterol concentrations. This observation was made when animal proteins were provided as a whole diet rather than given supplementally. Some observational studies reported an inverse association between plant protein intake and systolic and diastolic blood pressure, but this was not confirmed by intervention studies. Moreover, plant protein (wheat gluten, soy protein) intake as part of a mixed meal resulted in a lower postprandial insulin response than did whey. This systematic review provides some evidence that the intake of soy protein associated with isoflavones may prevent the onset of risk factors associated with cardiovascular disease, i.e., hypercholesterolemia and hypertension, in humans. However, we were not able to draw any further conclusions from the present work on the positive effects of plant proteins relating to glucose homeostasis and body composition. © 2017 American

  15. 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.)

  16. Clinical Features and Long-Term Outcome of Nephrotic Syndrome Associated with Heterozygous NPHS1 and NPHS2 Mutations

    Science.gov (United States)

    Caridi, Gianluca; Gigante, Maddalena; Ravani, Pietro; Trivelli, Antonella; Barbano, Giancarlo; Scolari, Francesco; Dagnino, Monica; Murer, Luisa; Murtas, Corrado; Edefonti, Alberto; Allegri, Landino; Amore, Alessandro; Coppo, Rosanna; Emma, Francesco; De Palo, Tommaso; Penza, Rosa; Gesualdo, Loreto; Ghiggeri, Gian Marco

    2009-01-01

    Background and objectives: Mutations in nephrin (NPHS1) and podocin (NPHS2) genes represent a major cause of idiopathic nephrotic syndrome (NS) in children. It is not yet clear whether the presence of a single mutation acts as a modifier of the clinical course of NS. Design, setting, participants, & measurements: We reviewed the clinical features of 40 patients with NS associated with heterozygous mutations or variants in NPHS1 (n = 7) or NPHS2 (n = 33). Long-term renal survival probabilities were compared with those of a concurrent cohort with idiopathic NS. Results: Patients with a single mutation in NPHS1 received a diagnosis before those with potentially nongenetic NS and had a good response to therapies. Renal function was normal in all cases. For NPHS2, six patients had single heterozygous mutations, six had a p.P20L variant, and 21 had a p.R229Q variant. Age at diagnosis and the response to drugs were comparable in all NS subgroups. Overall, they had similar renal survival probabilities as non-NPHS1/NPHS2 cases (log-rank χ2 0.84, P = 0.656) that decreased in presence of resistance to therapy (P < 0.001) and in cases with renal lesions of glomerulosclerosis and IgM deposition (P < 0.001). Cox regression confirmed that the only significant predictor of dialysis was resistance to therapy. Conclusions: Our data indicate that single mutation or variant in NPHS1 and NPHS2 does not modify the outcome of primary NS. These patients should be treated following consolidated schemes and have good chances for a good long-term outcome. PMID:19406966

  17. The MR imaging features of the posterior intermalleolar ligament in patients with posterior impingement syndrome of the ankle

    Energy Technology Data Exchange (ETDEWEB)

    Fiorella, D. [Duke Univ. Medical Center, Durham, NC (United States). Dept. of Radiology; Duke Univ., Durham, NC (United States). Medical Center; Helms, C.A. [Duke Univ. Medical Center, Durham, NC (United States). Dept. of Radiology; Nunley, J.A. II [Dept. of Orthopedic Surgery, Duke University Medical Center, Durham, NC (United States)

    1999-10-01

    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.)

  18. Randomised controlled trial of effect of whole soy replacement diet on features of metabolic syndrome in postmenopausal women: study protocol.

    Science.gov (United States)

    Liu, Zhao-Min; Ho, Suzanne; Hao, Yuan-Tao; Chen, Yu-Ming; Woo, Jean; Wong, Samuel Yeung-Shan; He, Qiqiang; Xie, Yao Jie; Tse, Lap Ah; Chen, Bailing; Su, Xue-Fen; Lao, Xiang-Qian; Wong, Carmen; Chan, Ruth; Ling, Wen-Hua

    2016-09-27

    Metabolic syndrome (MetS) is a public health problem in postmenopausal women. Whole soy foods are rich in unsaturated fats, high quality plant protein and various bioactive phytochemicals that may have a beneficial role in the management of MetS. The aim of the study is to examine the effect of whole soy replacement diet on the features of MetS among postmenopausal women. This will be a 12-month, randomised, single-blind, parallel controlled trial among 208 postmenopausal women at risk of MetS or with early MetS. After 4 weeks' run-in, subjects will be randomly allocated to one of two intervention groups, whole soy replacement group or control group, each for 12 months. Subjects in the whole soy group will be required to include four servings of whole soy foods (containing 25 g soy protein) into their daily diet iso-calorically, replacing red or processed meat and high fat dairy products. Subjects in the control group will remain on a usual diet. The outcome measures will include metabolic parameters as well as a 10-year risk for ischaemic cardiovascular disease. We hypothesise that the whole soy substitution diet will notably improve features of MetS in postmenopausal women at risk of MetS or with early MetS. The study will have both theoretical and practical significance. If proven effective, the application of the whole soy replacement diet model will be a safe, practical and economical strategy for MetS prevention and treatment. Ethics approval has been obtained from the Ethics Committee of the Chinese University of Hong Kong. The results will be disseminated via conference presentations and papers in academic peer reviewed journals. Data files will be deposited in an accessible repository. NCT02610322. 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/

  19. MR imaging features and clinical value of vestibular aqueduct and endolymphatic sac in patients with large vestibular aqueduct syndrome

    International Nuclear Information System (INIS)

    Fang Zheming; Lou Xin; Lan Lan; Wang Hui; Wang Qiuju; Wu Nanzhou; Zhang Xiaojing

    2012-01-01

    Objective: To investigate MR imaging features of endolymphatic sac and vestibular aqueduct in patients with large vestibular aqueduct syndrome (LVAS) and its correlation with hearing loss. Methods: MR imaging findings of LVAS were analyzed in 31 cases (62 ears) retrospectively. MR imaging features were grouped into 4 types. In the first type, the signals of endolymphatic and vestibular aqueduct were hypointense without any hyperintense area. In the second type, the signals of endolymphatic sac and vestibular were hyperintense which were confined within vestibular fissure. In the third type, the area from vestibular aqueduct backward out of the edge of the petrous bone was hyperintense, but its lower boundary was above posterior semicircular. In the fourth type the area which was hyperintense was below the posterior semicircular. To avoid errors in visual inspection, the hyperintense and hypointense area of endolymphatic and the signal intensity of vestibular aqueduct and cerebrospinal fluid (CSF) were measured. The differences of signal intensity among the vestibular endolymphatic sac between the high-signal areas and low signal areas were compared with paired t-test. The correlation of the endolymphatic sac MRI classification and degree of hearing loss was analyzed by corrected Chi-square test and Spearman correlation analysis. Result: Ten ears belonged to type Ⅰ (moderate hearing loss in 1 ear,severe in 4 ears,profound in 5 ears), 17 ears belonged to type Ⅱ (moderate hearing loss in 1 ear; severe in 5 ears,profound in 11 ears), 23 ears to type Ⅲ (moderate hearing loss in 3 ear, severe in 5 ears, profound in 15 ears) and 12 ears belonged to Ⅳ (mild hearing loss in 1 ear, moderate in 1 ear, severe 3 ear, profound in 7 ears). The boundary between hyperintense and hypointense area was clear, and the signal intensity ratios was 2.02 ± 0.06. The signal ratios of hyperintense and hypointense area to vestibular and CSF were 0.95 ±0.12, 0.49 ±0.10, 0.99 ± 0

  20. 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...

  1. 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.

  2. 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…

  3. 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

  4. 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

  5. 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.

  6. Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region.

    Science.gov (United States)

    Nicita, Francesco; Garone, Giacomo; Spalice, Alberto; Savasta, Salvatore; Striano, Pasquale; Pantaleoni, Chiara; Spartà, Maria Valentina; Kluger, Gerhard; Capovilla, Giuseppe; Pruna, Dario; Freri, Elena; D'Arrigo, Stefano; Verrotti, Alberto

    2016-01-01

    Seizures are rarely reported in Williams-Beuren syndrome (WBS)--a contiguous-gene-deletion disorder caused by a 7q11.23 heterozygous deletion of 1.5-1.8 Mb--and no previous study evaluated electro-clinical features of epilepsy in this syndrome. Furthermore, it has been hypothesized that atypical deletion (e.g., larger than 1.8 Mb) may be responsible for a more pronounced neurological phenotypes, especially including seizures. Our objectives are to describe the electro-clinical features in WBS and to correlate the epileptic phenotype with deletion of the 7q11.23 critical region. We evaluate the electro-clinical features in one case of distal 7q11.23 deletion syndrome and in eight epileptic WBS (eWBS) patients. Additionally, we compare the deletion size-and deleted genes-of four epileptic WBS (eWBS) with that of four non-epileptic WBS (neWBS) patients. Infantile spasms, focal (e.g., motor and dyscognitive with autonomic features) and generalized (e.g., tonic-clonic, tonic, clonic, myoclonic) seizures were encountered. Drug-resistance was observed in one patient. Neuroimaging discovered one case of focal cortical dysplasia, one case of fronto-temporal cortical atrophy and one case of periventricular nodular heterotopia. Comparison of deletion size between eWBS and neWBS patients did not reveal candidate genes potentially underlying epilepsy. This is the largest series describing electro-clinical features of epilepsy in WBS. In WBS, epilepsy should be considered both in case of typical and atypical deletions, which do not involve HIP1, YWHAG or MAGI2. © 2015 Wiley Periodicals, Inc.

  7. 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 ... t work properly. Other physical features typical of Turner syndrome are Short, "webbed" neck with folds of skin ...

  8. Bartter syndrome

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000308.htm Bartter syndrome To use the sharing features on this page, please enable JavaScript. Bartter syndrome is a group of rare conditions that affect ...

  9. 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.

  10. 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

  11. Identification of a novel mutation in RIPK4 in a kindred with phenotypic features of Bartsocas-Papas and CHAND syndromes.

    Science.gov (United States)

    Gollasch, Benjamin; Basmanav, Fitnat Buket; Nanda, Arti; Fritz, Günter; Mahmoudi, Hassnaa; Thiele, Holger; Wehner, Maria; Wolf, Sabrina; Altmüller, Janine; Nürnberg, Peter; Frank, Jorge; Betz, Regina C

    2015-11-01

    Three children from an expanded consanguineous Kuwaiti kindred presented with ankyloblepharon, sparse and curly hair, and hypoplastic nails, suggestive of CHAND syndrome (OMIM 214350) that belongs to the heterogeneous spectrum of ectodermal dysplasias. After exclusion of pathogenic mutations in TP63 we performed homozygosity mapping, followed by exome sequencing of one affected individual. We initially identified three homozygous mutations in the linked region, located in PWP2, MX2 and RIPK4. Recently, mutations in RIPK4 have been reported in Bartsocas-Papas syndrome (OMIM 263650) that shows overlapping clinical symptoms with the phenotype observed in the affected individuals studied here. Subsequent analysis of affected and non-affected family members showed that mutation c.850G>A (p.Glu284Lys) in RIPK4 was in complete segregation with the disease phenotype, in accordance with an autosomal recessive inheritance pattern, thus supporting pathogenicity of this variant. Interestingly, however, our patients did not have cleft lip/palate, a common feature encountered in Bartsocas-Papas syndrome. Whereas in Bartsocas-Papas syndromes missense mutations are usually located within the serin/threonin kinase of RIPK4, the mutation detected in our family resides just outside of the kinase domain, which could explain the milder phenotype. Our data raise the question if CHAND syndrome indeed is a distinct entity. Alternatively, CHAND and Bartsocas-Papas syndrome might be allelic disorders or RIPK4 mutations could confer varying degrees of phenotypic severity, depending on their localization within or outside functionally important domains. Our findings indicate that making an accurate diagnosis based only on the prevailing clinical symptoms is challenging. © 2015 Wiley Periodicals, Inc.

  12. 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.

  13. 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.

  14. A unique case of Turner syndrome accompanying prolactinoma and unexpected elongated styloid process: Clinical and cone-beam computed tomographic features

    International Nuclear Information System (INIS)

    Evlice, Burcu; Tatli, Ufuk; Yazicioglu, Iffet; Oztunc, Haluk; Evlice, Ahmet

    2013-01-01

    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.

  15. 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.

  16. 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.

  17. 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.

    Science.gov (United States)

    Schioldan, Anne Grethe; Gregersen, Søren; Hald, Stine; Bjørnshave, Ann; Bohl, Mette; Hartmann, Bolette; Holst, Jens Juul; Stødkilde-Jørgensen, Hans; Hermansen, Kjeld

    2018-03-01

    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). Nineteen subjects completed the randomised, crossover study with HCD and WCD for 4-week. Postprandial metabolism was evaluated by a meal-challenge test and insulin sensitivity was assessed by HOMA-IR and Matsuda index. Furthermore, fasting cholesterols, serum-fructosamine, circulating inflammatory markers, ambulatory blood pressure and intrahepatic lipid content were measured. 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 cholesterol (-0.61 mmol/l, 95% CI (-0.86; -0.36) P = 0.002) compared with WSD in subjects on but not without statin treatment. We detected no other significant diet effects. In subjects with metabolic syndrome on statins a 4-week diet rich in arabinoxylan and resistant starch improved fasting LDL and total cholesterol compared to subjects not being on statins. However, we observed no diet related impact on postprandial lipaemia or features of the metabolic syndrome. The dietary fibre x statin interaction deserves further elucidation.

  18. Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD).

    Science.gov (United States)

    Balasubramaniam, Shanti; Lewis, B; Mock, D M; Said, H M; Tarailo-Graovac, M; Mattman, A; van Karnebeek, C D; Thorburn, D R; Rodenburg, R J; Christodoulou, J

    2017-01-01

    Leigh syndrome (LS), or subacute necrotizing encephalomyelopathy, is a genetically heterogeneous, relentlessly progressive, devastating neurodegenerative disorder that usually presents in infancy or early childhood. A diagnosis of Leigh-like syndrome may be considered in individuals who do not fulfil the stringent diagnostic criteria but have features resembling Leigh syndrome.We describe a unique presentation of Leigh-like syndrome in a 3-year-old boy with elevated 3-hydroxyisovalerylcarnitine (C5-OH) on newborn screening (NBS). Subsequent persistent plasma elevations of C5-OH and propionylcarnitine (C3) as well as fluctuating urinary markers were suggestive of multiple carboxylase deficiency (MCD). Normal enzymology and mutational analysis of genes encoding holocarboxylase synthetase (HLCS) and biotinidase (BTD) excluded MCD. Biotin uptake studies were normal excluding biotin transporter deficiency. His clinical features at 13 months of age comprised psychomotor delay, central hypotonia, myopathy, failure to thrive, hypocitrullinemia, recurrent episodes of decompensation with metabolic keto-lactic acidosis and an episode of hyperammonemia. Biotin treatment from 13 months of age was associated with increased patient activity, alertness, and attainment of new developmental milestones, despite lack of biochemical improvements. Whole exome sequencing (WES) analysis failed to identify any other variants which could likely contribute to the observed phenotype, apart from the homoplasmic (100%) m.8993T>G variant initially detected by mitochondrial DNA (mtDNA) sequencing.Hypocitrullinemia has been reported in patients with the m.8993T>G variant and other mitochondrial disorders. However, persistent plasma elevations of C3 and C5-OH have previously only been reported in one other patient with this homoplasmic mutation. We suggest considering the m.8993T>G variant early in the diagnostic evaluation of MCD-like biochemical disturbances, particularly when associated with

  19. 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...

  20. 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

  1. 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

    regulators of the ubiquitin system. OTUD6B encodes a member of the ovarian tumor domain (OTU)-containing subfamily of deubiquitinating enzymes. Herein, we report biallelic pathogenic variants in OTUD6B in 12 individuals from 6 independent families with an intellectual disability syndrome associated...

  2. 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 n...

  3. 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

  4. 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.

  5. Clinical Features and Treatment Outcomes among Children with Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis: A 20-Year Study in a Tertiary Referral Hospital

    OpenAIRE

    Susheera Chatproedprai; Vanvara Wutticharoenwong; Therdpong Tempark; Siriwan Wananukul

    2018-01-01

    Aim. To determine the probable causative factors, clinical features, and treatment outcomes of Stevens-Johnson syndrome (SJS), toxic epidermal necrolysis (TEN), and SJS-TEN overlap in children. Methods. A 20-year database review of all children diagnosed with SJS/TEN/SJS-TEN overlap at the King Chulalongkorn Memorial Hospital, Thailand. Results. 36 patients (M : F, 16 : 20) with the mean age of 9.2±4.0 years were identified. There were 20 cases of SJS, 4 cases of SJS-TEN overlap, and 12 cases...

  6. 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.

  7. 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

  8. 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

  9. JAG1 mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndrome.

    Science.gov (United States)

    Guegan, K; Stals, K; Day, M; Turnpenny, P; Ellard, S

    2012-07-01

    Alagille syndrome is a multisystem disorder characterized by highly variable expressivity, most frequently caused by heterozygous JAG1 gene mutations. Classic diagnostic criteria combine the presence of bile duct paucity on liver biopsy with three of five systems affected; liver, heart, skeleton, eye and dysmorphic facies. The aim of this study was to determine the prevalence and distribution of JAG1 mutations in patients referred for routine clinical diagnostic testing. Clinical data were available for 241 patients from 135 families. The index cases were grouped according to the number of systems affected (heart, liver, skeletal, eye and facies) and the mutation frequency calculated for each group. JAG1 mutations were identified in 59/135 (44%) probands. The highest mutation detection rates were observed in patients with the most frequent presenting features of Alagille syndrome; ranging from 20% (one system) to 86% (five systems). The overall mutation pick-up rate in a clinical diagnostic setting was lower than in previous research studies. Identification of a JAG1 gene mutation is particularly useful for those patients with atypical or mild Alagille syndrome who do not meet classic diagnostic criteria as it provides a definite molecular diagnosis and allows accurate genetic counselling for the family. © 2011 John Wiley & Sons A/S.

  10. Pancreatitis, panniculitis, and polyarthritis (PPP) syndrome: MRI features of intraosseous fat necrosis involving the feet and knees

    International Nuclear Information System (INIS)

    Kang, Dong Joo; Lee, Sun Joo; Choo, Hye Jung; Her, Minyoung; Yoon, Hye Kyoung

    2017-01-01

    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. (orig.)

  11. 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.)

  12. Specific features of the clinical and laboratory diagnosis of Lesch—Nyhan syndrome and current therapy options

    Directory of Open Access Journals (Sweden)

    M. I. Yablonskaya

    2015-01-01

    Full Text Available The rare hereditary diseases encountered in the practice of pediatricians, pediatric neurologists, and geneticists include Lesch—Nyhan syndrome associated with purine metabolic disorders caused by mutations in the HPRT1 gene encoding the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT. HGPRT deficiency gives rise to hyperuricemia, hyperuricemic nephropathy, and a CNS lesion reminiscent of dystonic or hyperkinetic infantile cerebral paralysis concurrent with a propensity to have autoaggressive behavior. The diagnosis is based on a range of history data, characteristic neurological symptoms, the detection of high blood and urine uric acid levels, and the identification of pathogenic mutagens in the HPRT1 gene. Early diagnosis contributes to timely therapy and assists in medical genetic counseling. The paper describes a clinical case of a boy with Lesch-Nyhan syndrome and elucidates the problems of diagnosis and treatment of this disease.

  13. Features of an altered AMPK metabolic pathway in Gilbert’s Syndrome, and its role in metabolic health

    OpenAIRE

    Christine Mölzer; Marlies Wallner; Carina Kern; Anela Tosevska; Ursula Schwarz; Rene Zadnikar; Daniel Doberer; Rodrig Marculescu; Karl-Heinz Wagner

    2016-01-01

    Energy metabolism, involving the ATP-dependent AMPK-PgC-Ppar pathway impacts metabolic health immensely, in that its impairment can lead to obesity, giving rise to disease. Based on observations that individuals with Gilbert?s syndrome (GS; UGT1A1 *28 promoter mutation) are generally lighter, leaner and healthier than controls, specific inter-group differences in the AMPK pathway regulation were explored. Therefore, a case-control study involving 120 fasted, healthy, age- and gender matched s...

  14. 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

  15. 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 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. © 2015 American Society for Nutrition.

  16. 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 of...... diagnosis is important for timely counseling of affected couples regarding the option of pregnancy termination and prenatal genetic testing in future pregnancies.European Journal of Human Genetics advance online publication, 3 September 2014; doi:10.1038/ejhg.2014.174....

  17. 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

  18. 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

    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...... referred with a clinical suspicion of a specific syndrome, which was confirmed in 17 patients (21.3%). The remaining 90 patients were referred because of mental retardation and dysmorphism but without suspicion of a specific syndrome. Seven imbalances, including four duplications, were detected in these 90...

  19. 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.

  20. 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

    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...

  1. 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.

  2. Severe respiratory failure as a presenting feature of an interstitial lung disease associated with anti-synthetase syndrome (ASS).

    Science.gov (United States)

    Piroddi, Ines Maria Grazia; Ferraioli, Gianluca; Barlascini, Cornelius; Castagneto, Corrado; Nicolini, Antonello

    2016-07-01

    Anti-synthetase syndrome (ASS) is defined as a heterogeneous connective tissue disorder characterized by the association of an interstitial lung disease (ILD) with or without inflammatory myositis with the presence of anti-aminoacyl-tRNA-synthetase antibodies. ILD is one of the major extra-muscular manifestations of polymyositis and dermatomyositis. We report a case of a patient with dyspnea, cough, and intermittent fever as well as ILD associated ASS in the absence of muscular involvement. This patient was admitted to the emergency department with severe respiratory failure requiring non-invasive ventilation. Our patient's case demonstrates that the diagnosis of ASS may not be obvious. However, its diagnosis leads to appropriate and potentially life-saving treatment. Copyright © 2016 The Japanese Respiratory Society. Published by Elsevier B.V. All rights reserved.

  3. 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 titre 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. © 2018 Nordic Association for the Publication of BCPT (former Nordic Pharmacological Society).

  4. 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.

  5. 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

  6. 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

  7. 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.)

  8. 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.)

  9. Microdeletion of 19p13.3 in a girl with Peutz-Jeghers syndrome, intellectual disability, hypotonia, and distinctive features.

    Science.gov (United States)

    Kuroda, Yukiko; Saito, Toshiyuki; Nagai, Jun-Ichi; Ida, Kazumi; Naruto, Takuya; Masuno, Mitsuo; Kurosawa, Kenji

    2015-02-01

    Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disease characterized by gastrointestinal polyposis and mucocutaneous pigmentation. Germline point mutations in the serine/threonine kinase 11 (STK11) have been identified in about 70% of patients with PJS. Only a few large genomic deletions have been identified. We report on a girl with PJS and multiple congenital anomalies. She had intellectual disability, umbilical hernia, bilateral inguinal hernias, scoliosis, and distinct facial appearance including prominent mandible, smooth philtrum, and malformed ears. She developed lip pigmentation at the age of 12 years but had no gastrointestinal polyps. Array comparative genomic hybridization revealed an approximately 610 kb deletion at 19p13.3, encompassing STK11. Together with previous reports, the identification of common clinical features suggests that microdeletion at 19p13.3 encompassing STK11 constitutes a distinctive phenotype. © 2014 Wiley Periodicals, Inc.

  10. Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature.

    Science.gov (United States)

    Lepri, Francesca Romana; Cocciadiferro, Dario; Augello, Bartolomeo; Alfieri, Paolo; Pes, Valentina; Vancini, Alessandra; Caciolo, Cristina; Squeo, Gabriella Maria; Malerba, Natascia; Adipietro, Iolanda; Novelli, Antonio; Sotgiu, Stefano; Gherardi, Renzo; Digilio, Maria Cristina; Dallapiccola, Bruno; Merla, Giuseppe

    2017-12-28

    Kabuki syndrome (KS) is a rare disorder characterized by multiple congenital anomalies and variable intellectual disability caused by mutations in KMT2D/MLL2 and KDM6A/UTX , two interacting chromatin modifier responsible respectively for 56-75% and 5-8% of the cases. To date, three KS patients with mosaic KMT2D deletions in blood lymphocytes have been described. We report on three additional subjects displaying KMT2D gene mosaics including one in which a single nucleotide change results in a new frameshift mutation (p.L1199HfsX7), and two with already-known nonsense mutations (p.R4484X and p.R5021X). Consistent with previously published cases, mosaic KMT2D mutations may result in mild KS facial dysmorphisms and clinical and neurobehavioral features, suggesting that these characteristics could represent the handles for genetic testing of individuals with slight KS-like traits.

  11. Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature

    Directory of Open Access Journals (Sweden)

    Francesca Romana Lepri

    2017-12-01

    Full Text Available Kabuki syndrome (KS is a rare disorder characterized by multiple congenital anomalies and variable intellectual disability caused by mutations in KMT2D/MLL2 and KDM6A/UTX, two interacting chromatin modifier responsible respectively for 56–75% and 5–8% of the cases. To date, three KS patients with mosaic KMT2D deletions in blood lymphocytes have been described. We report on three additional subjects displaying KMT2D gene mosaics including one in which a single nucleotide change results in a new frameshift mutation (p.L1199HfsX7, and two with already-known nonsense mutations (p.R4484X and p.R5021X. Consistent with previously published cases, mosaic KMT2D mutations may result in mild KS facial dysmorphisms and clinical and neurobehavioral features, suggesting that these characteristics could represent the handles for genetic testing of individuals with slight KS-like traits.

  12. 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.

  13. 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.

  14. 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.

  15. Comparison between Flail Arm Syndrome and Upper Limb Onset Amyotrophic Lateral Sclerosis: Clinical Features and Electromyographic Findings.

    Science.gov (United States)

    Yoon, Byung-Nam; Choi, Seong Hye; Rha, Joung-Ho; Kang, Sa-Yoon; Lee, Kwang-Woo; Sung, Jung-Joon

    2014-09-01

    Flail arm syndrome (FAS), an atypical presentation of amyotrophic lateral sclerosis (ALS), is characterized by progressive, predominantly proximal, weakness of upper limbs, without involvement of the lower limb, bulbar, or respiratory muscles. When encountering a patient who presents with this symptomatic profile, possible diagnoses include upper limb onset ALS (UL-ALS), and FAS. The lack of information regarding FAS may make differential diagnosis between FAS and UL-ALS difficult in clinical settings. The aim of this study was to compare clinical and electromyographic findings from patients diagnosed with FAS with those from patients diagnosed with UL-ALS. To accomplish this, 18 patients with FAS and 56 patients with UL-ALS were examined. Significant differences were observed between the 2 groups pertaining to the rate of fasciculation, patterns of predominantly affected muscles, and the Medical Research Council scale of the weakest muscle. The presence of upper motor neuron signs and lower motor neuron involvement evidenced through electromyography showed no significant between-group differences.

  16. Dravets 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 and early childhood. Most cases of Dravet syndrome seem to be due to a genetic defect causing the sodium channel to malfunction. We describe the main features of the syndrome. This epilepsy is medically intractable, but we call attention...... to the fact that some medications are of benefit and some could exacerbate the condition. Early recognition of the syndrome including by genetic testing could possibly improve outcome and reduce the need for other specialized investigations. Udgivelsesdato: 2010-Feb-22...

  17. Macroglosia asociada con deformidades dentofaciales: Alternativas terapéuticas y presentación de un caso Macroglossia associated with dentofacial deformities: Therapeutic alternatives and a case report

    Directory of Open Access Journals (Sweden)

    José Manuel Díaz Fernández

    2006-12-01

    Full Text Available Se lleva a efecto una revisión bibliográfica de las alternativas de tratamiento en la corrección de la macroglosia asociada con deformidades dentofaciales. Se establecen las alternativas quirúrgicas ortodóncicas, así como las indicaciones y ventajas de cada variante operatoria. Se presenta un caso clínico donde ambas condiciones patológicas están presentes. Se emiten algunas consideraciones cuando se ejecuta una glosectomía de reducción en pacientes con anomalías dentofaciales.A bibliographic review of the treatment alternatives for the correction of macroglossia associated with dentofacial deformities is made. The surgical orthodontic alternatives are established, as well as the indications and advantages of every operative variant. A clinical case with both pathological conditions is reported. Some considerations are given when a reduction glossectomy is performed in patients with dentofacial abnormalities.

  18. 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 burning sensations with other oral complaints, including 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).

  19. 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.

  20. 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

  1. 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.)

  2. 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.

  3. The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome.

    Science.gov (United States)

    Schönewolf-Greulich, B; Tejada, M-I; Stephens, K; Hadzsiev, K; Gauthier, J; Brøndum-Nielsen, K; Pfundt, R; Ravn, K; Maortua, H; Gener, B; Martínez-Bouzas, C; Piton, A; Rouleau, G; Clayton-Smith, J; Kleefstra, T; Bisgaard, A-M; Tümer, Z

    2016-06-01

    Missense MECP2 variants can have various phenotypic effects ranging from a normal phenotype to typical Rett syndrome (RTT). In females, the phenotype can also be influenced by the X-inactivation pattern. In this study, we present detailed clinical descriptions of six patients with a rare base-pair substitution affecting Arg309 at the C-terminal end of the transcriptional repression domain (TRD). All patients have intellectual disability and present with some RTT features, but they do not fulfill the clinical criteria for typical or atypical RTT. Most of the patients also have mild facial dysmorphism. Intriguingly, the mother of an affected male patient is an asymptomatic carrier of this variant. It is therefore likely that the p.(Arg309Trp) variation does not necessarily lead to male lethality, and it results in a wide range of clinical features in females, probably influenced by different X-inactivation patterns in target tissues. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  4. Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.

    Science.gov (United States)

    Rafiq, Muhammad Arshad; Leblond, Claire S; Saqib, Muhammad Arif Nadeem; Vincent, Akshita K; Ambalavanan, Amirthagowri; Khan, Falak Sher; Ayaz, Muhammad; Shaheen, Naseema; Spiegelman, Dan; Ali, Ghazanfar; Amin-ud-Din, Muhammad; Laurent, Sandra; Mahmood, Huda; Christian, Mehtab; Ali, Nadir; Fennell, Alanna; Nanjiani, Zohair; Egger, Gerald; Caron, Chantal; Waqas, Ahmed; Ayub, Muhammad; Rasheed, Saima; Forgeot d'Arc, Baudouin; Johnson, Amelie; So, Joyce; Brohi, Muhammad Qasim; Mottron, Laurent; Ansar, Muhammad; Vincent, John B; Xiong, Lan

    2015-06-25

    Cohen Syndrome (COH1) is a rare autosomal recessive disorder, principally identified by ocular, neural and muscular deficits. We identified three large consanguineous Pakistani families with intellectual disability and in some cases with autistic traits. Clinical assessments were performed in order to allow comparison of clinical features with other VPS13B mutations. Homozygosity mapping followed by whole exome sequencing and Sanger sequencing strategies were used to identify disease-related mutations. We identified two novel homozygous deletion mutations in VPS13B, firstly a 1 bp deletion, NM_017890.4:c.6879delT; p.Phe2293Leufs*24, and secondly a deletion of exons 37-40, which co-segregate with affected status. In addition to COH1-related traits, autistic features were reported in a number of family members, contrasting with the "friendly" demeanour often associated with COH1. The c.6879delT mutation is present in two families from different regions of the country, but both from the Baloch sub-ethnic group, and with a shared haplotype, indicating a founder effect among the Baloch population. We suspect that the c.6879delT mutation may be a common cause of COH1 and similar phenotypes among the Baloch population. Additionally, most of the individuals with the c.6879delT mutation in these two families also present with autistic like traits, and suggests that this variant may lead to a distinct autistic-like COH1 subgroup.

  5. Cross-sectional analysis of the effects of age on the hormonal, metabolic, and ultrasonographic features and the prevalence of the different phenotypes of polycystic ovary syndrome.

    Science.gov (United States)

    Panidis, Dimitrios; Tziomalos, Konstantinos; Macut, Djuro; Delkos, Dimitrios; Betsas, George; Misichronis, Georgios; Katsikis, Ilias

    2012-02-01

    To assess the effects of age on the hormonal, metabolic, and ultrasonographic features of polycystic ovary syndrome (PCOS). Observational study. University department of obstetrics and gynecology. Patients with PCOS (n = 1,212) and healthy women (n = 254). None. Differences in the hormonal, metabolic, and ultrasonographic features of PCOS between age groups. A progressive decline in circulating androgens was observed with advancing age. Patients 21-30 years old had lower plasma glucose and insulin levels, lower area under the oral glucose tolerance test curve and lower homeostasis model assessment of insulin resistance index, and higher glucose/insulin and quantitative insulin sensitivity check index than patients 31-39 years old. The prevalence of PCOS phenotypes changed with age. More specifically, the distribution of the phenotypes did not differ substantially between patients ≤ 20 years old and patients 21-30 years old. However, a decline in the prevalence of phenotype 1 (characterized by anovulation, hyperandrogenemia, and polycystic ovaries) and an increase in the prevalence of phenotype 4 (characterized by anovulation and polycystic ovaries without hyperandrogenemia) were observed in patients 31-39 years old. In women with PCOS, hyperandrogenemia appears to diminish during reproductive life whereas insulin resistance worsens. Copyright © 2012 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  6. Costello syndrome

    Directory of Open Access Journals (Sweden)

    Madhukara J

    2007-01-01

    Full Text Available Costello syndrome is a rare, distinctive, multiple congenital anomaly syndrome, characterized by soft, loose skin with deep palmar and plantar creases, loose joints, distinctive coarse facial features and skeletal and cardiac abnormalities. The affected patients have a predisposition to develop malignancy, developmental delays and mental retardation. Recently, a 7-year-old male child born to normal nonconsanguineous parents presented to us with abnormal facial features, arrhythmia, mitral valve dysfunction and growth retardation. His cutaneous examination revealed lax and pigmented skin over hands and feet with deep creases, acanthosis nigricans and short curly hairs. Its differentiation from other syndromes with similar clinical features is discussed in this article.

  7. 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.)

  8. 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

  9. Neutralization of IFN-γ reverts clinical and laboratory features in a mouse model of macrophage activation syndrome.

    Science.gov (United States)

    Prencipe, Giusi; Caiello, Ivan; Pascarella, Antonia; Grom, Alexei A; Bracaglia, Claudia; Chatel, Laurence; Ferlin, Walter G; Marasco, Emiliano; Strippoli, Raffaele; de Min, Cristina; De Benedetti, Fabrizio

    2018-04-01

    The pathogenesis of macrophage activation syndrome (MAS) is not clearly understood: a large body of evidence supports the involvement of mechanisms similar to those implicated in the setting of primary hemophagocytic lymphohistiocytosis. We sought to investigate the pathogenic role of IFN-γ and the therapeutic efficacy of IFN-γ neutralization in an animal model of MAS. We used an MAS model established in mice transgenic for human IL-6 (IL-6TG mice) challenged with LPS (MAS mice). Levels of IFN-γ and IFN-γ-inducible chemokines were evaluated by using real-time PCR in the liver and spleen and by means of ELISA in plasma. IFN-γ neutralization was achieved by using the anti-IFN-γ antibody XMG1.2 in vivo. Mice with MAS showed a significant upregulation of the IFN-γ pathway, as demonstrated by increased mRNA levels of Ifng and higher levels of phospho-signal transducer and activator of transcription 1 in the liver and spleen and increased expression of the IFN-γ-inducible chemokines Cxcl9 and Cxcl10 in the liver and spleen, as well as in plasma. A marked increase in Il12a and Il12b expression was also found in livers and spleens of mice with MAS. In addition, mice with MAS had a significant increase in numbers of liver CD68 + macrophages. Mice with MAS treated with an anti-IFN-γ antibody showed a significant improvement in survival and body weight recovery associated with a significant amelioration of ferritin, fibrinogen, and alanine aminotransferase levels. In mice with MAS, treatment with the anti-IFN-γ antibody significantly decreased circulating levels of CXCL9, CXCL10, and downstream proinflammatory cytokines. The decrease in CXCL9 and CXCL10 levels paralleled the decrease in serum levels of proinflammatory cytokines and ferritin. These results provide evidence for a pathogenic role of IFN-γ in the setting of MAS. Copyright © 2017 American Academy of Allergy, Asthma & Immunology. Published by Elsevier Inc. All rights reserved.

  10. 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/

  11. 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.

  12. Ambras syndrome

    Directory of Open Access Journals (Sweden)

    Sudhir Malwade

    2015-01-01

    Full Text Available Ambras syndrome, a form of congenital hypertrichosis lanuginosa, is extremely rare in neonates. It is characterized by typical pattern of hair distribution, dysmorphic facial features and a familial pattern of inheritance. We report a case of Ambras syndrome in a preterm neonate with history of consanguinity and positive family history.

  13. Noonan syndrome

    OpenAIRE

    Roberts, Amy E; Allanson, Judith E; Tartaglia, Marco; Gelb, Bruce D

    2013-01-01

    Noonan syndrome is a genetic multisystem disorder characterised by distinctive facial features, developmental delay, learning difficulties, short stature, congenital heart disease, renal anomalies, lymphatic malformations, and bleeding difficulties. Mutations that cause Noonan syndrome alter genes encoding proteins with roles in the RAS–MAPK pathway, leading to pathway dysregulation. Management guidelines have been developed. Several clinically relevant genotype–phenotype correlations aid ris...

  14. De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome

    DEFF Research Database (Denmark)

    Suls, Arvid; Jaehn, Johanna A; Kecskés, Angela

    2013-01-01

    Dravet syndrome is a severe epilepsy syndrome characterized by infantile onset of therapy-resistant, fever-sensitive seizures followed by cognitive decline. Mutations in SCN1A explain about 75% of cases with Dravet syndrome; 90% of these mutations arise de novo. We studied a cohort of nine Dravet...

  15. Cockayne syndrome

    DEFF Research Database (Denmark)

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

    2017-01-01

    Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, pigmentary retinopathy, cataracts, sensorineural deafness, and ambulatory and feeding difficulties...

  16. Turner Syndrome

    Science.gov (United States)

    ... crowding, and osteoporosis (brittle bones). Because of their physical conditions, health concerns, and infertility, some girls and women with TS may have low self- esteem, anxiety, or depression. How is Turner syndrome diagnosed? Physical features may ...

  17. 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

  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. Effect of hypocaloric diet plus sibutramine treatment on hormonal and metabolic features in overweight and obese women with polycystic ovary syndrome: a randomized, 24-week study.

    Science.gov (United States)

    Florakis, D; Diamanti-Kandarakis, E; Katsikis, I; Nassis, G P; Karkanaki, A; Georgopoulos, N; Panidis, D

    2008-04-01

    To examine the effect of hypocaloric diet plus sibutramine on body composition, hormonal and metabolic parameters in overweight and obese patients with polycystic ovary syndrome (PCOS). Open-label, randomized study at an outpatient clinic. A total of 59 overweight and obese (18-39 years old) women with PCOS. All patients were placed in a hypocaloric diet plus sibutramine (10 mg per day) for the first month and then on a hypocaloric diet plus sibutramine (10 mg per day, group S) or hypocaloric diet only (group D) for the subsequent 6 months. Body composition, hormonal and metabolic features and insulin sensitivity (oral glucose tolerance test, OGTT) were evaluated at baseline and at 3 and 6 months of treatment. Body weight reduced in both groups but the reduction was greater with sibutramine (-15.4+/-1.1 vs -11.1+/-1.9% in groups S and D, respectively, Phypocaloric diet and a diet plus sibutramine both result in significant weight loss in overweight and obese women with PCOS. Patients who received sibutramine showed a greater weight loss and improvement in hyperandrogenemia and insulin sensitivity after 6 months of treatment. The amelioration of insulin resistance in this group could not be totally explained by weight loss. Total testosterone, FAI and TG levels reduction could be a possible mechanism. Finally, sibutramine increased compliance to diet and it was well tolerated from these patients.

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

    Directory of Open Access Journals (Sweden)

    K S Shivaprasad

    2013-01-01

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

  1. 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.

  2. A Healthy Nordic Diet Alters the Plasma Lipidomic Profile in Adults with Features of Metabolic Syndrome in a Multicenter Randomized Dietary Intervention.

    Science.gov (United States)

    Lankinen, Maria; Schwab, Ursula; Kolehmainen, Marjukka; Paananen, Jussi; Nygren, Heli; Seppänen-Laakso, Tuulikki; Poutanen, Kaisa; Hyötyläinen, Tuulia; Risérus, Ulf; Savolainen, Markku J; Hukkanen, Janne; Brader, Lea; Marklund, Matti; Rosqvist, Fredrik; Hermansen, Kjeld; Cloetens, Lieselotte; Önning, Gunilla; Thorsdottir, Inga; Gunnarsdottir, Ingibjorg; Åkesson, Björn; Dragsted, Lars Ove; Uusitupa, Matti; Orešič, Matej

    2016-03-09

    A healthy Nordic diet is associated with improvements in cardiometabolic risk factors, but the effect on lipidomic profile is not known. The aim was to investigate how a healthy Nordic diet affects the fasting plasma lipidomic profile in subjects with metabolic syndrome. Men and women (n = 200) with features of metabolic syndrome [mean age: 55 y; body mass index (in kg/m 2 ): 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 measurements. The healthy Nordic diet consisted of whole grains, fruits, vegetables, berries, vegetable oils and margarines, fish, low-fat milk products, and low-fat meat. An average Nordic diet served as the control diet and included low-fiber cereal products, dairy fat-based spreads, regular-fat milk products, and a limited amount of fruits, vegetables, and berries. Lipidomic profiles were measured at baseline, week 12, and the end of the intervention (18 or 24 wk) by using ultraperformance liquid chromatography mass spectrometry. The effects of the diets on the lipid variables were analyzed with linear mixed-effects models. Data from centers with 18- or 24-wk duration were also analyzed separately. Changes in 21 plasma lipids differed significantly between the groups at week 12 (false discovery rate P Nordic diet group compared with the control group. At the end of the study, changes in lipidomic profiles did not differ between the groups. However, when the intervention lasted 24 wk, changes in 8 plasma lipids that had been identified at 12 wk, including plasmalogens, were sustained. There were no differences in changes in plasma lipids between groups with an intervention of 18 wk. By the dietary biomarker score, adherence to diet did not explain the difference in the results related to the duration of the study. A healthy Nordic diet transiently modified the plasma lipidomic profile, specifically by

  3. 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.

  4. Seckel syndrome: an overdiagnosed syndrome.

    OpenAIRE

    Thompson, E; Pembrey, M

    1985-01-01

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

  5. 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 ...

  6. Acute respiratory distress syndrome

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/article/000103.htm Acute respiratory distress syndrome To use the sharing features on this page, please enable JavaScript. Acute respiratory distress syndrome (ARDS) is a life-threatening lung ...

  7. 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 ...

  8. 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 ...

  9. 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.

  10. 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

  11. Clinical Features and Treatment Outcomes among Children with Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis: A 20-Year Study in a Tertiary Referral Hospital

    Directory of Open Access Journals (Sweden)

    Susheera Chatproedprai

    2018-01-01

    Full Text Available Aim. To determine the probable causative factors, clinical features, and treatment outcomes of Stevens-Johnson syndrome (SJS, toxic epidermal necrolysis (TEN, and SJS-TEN overlap in children. Methods. A 20-year database review of all children diagnosed with SJS/TEN/SJS-TEN overlap at the King Chulalongkorn Memorial Hospital, Thailand. Results. 36 patients (M : F, 16 : 20 with the mean age of 9.2±4.0 years were identified. There were 20 cases of SJS, 4 cases of SJS-TEN overlap, and 12 cases of TEN. Drugs were the leading cause for the diseases (72.3%; antiepileptics were the most common culprits (36.1%. Cutaneous morphology at presentation was morbilliform rash (83.3%, blister (38.9%, targetoid lesions (25.0%, and purpuric macules (2.8%. Oral mucosa (97.2% and eye (83.3% were the 2 most common mucosal involvements. Majority of the cases (77.8% were treated with systemic corticosteroids, intravenous immunoglobulin, or both. Treatment outcomes between those who received systemic therapy and those who received only supportive care were comparable. Skin and eye were the principal sites of short-term and long-term complications. Conclusions. SJS/TEN are not common but are serious diseases which lead to significant morbidities in children. Early withdrawal of suspicious causes and meticulous supportive care are very important. This study found that the systemic therapy was not superior to supportive care because the treatment outcomes for both groups were comparable.

  12. Metabolic syndrome and low high-density lipoprotein cholesterol are associated with adverse pathological features in patients with prostate cancer treated by radical prostatectomy.

    Science.gov (United States)

    Lebdai, Souhil; Mathieu, Romain; Leger, Julie; Haillot, Olivier; Vincendeau, Sébastien; Rioux-Leclercq, Nathalie; Fournier, Georges; Perrouin-Verbe, Marie-Aimée; Doucet, Laurent; Azzouzi, Abdel Rahmene; Rigaud, Jérome; Renaudin, Karine; Charles, Thomas; Bruyere, Franck; Fromont, Gaelle

    2018-02-01

    Previous studies have suggested a link between metabolic syndrome (MetS) and prostate cancer (PCa). In the present study, we aimed to assess the association between MetS and markers of PCa aggressiveness on radical prostatectomy (RP). All patients consecutively treated for PCa by RP in 6 academic institutions between August 2013 and July 2016 were included. MetS was defined as at least 3 of 5 components (obesity, elevated blood pressure, diabetes, low high-density lipoprotein (HDL)-cholesterol, and hypertriglyceridemia). Demographic, biological, and clinical parameters were prospectively collected, including: age, biopsy results, preoperative serum prostate-specific antigen, surgical procedure, and pathological data of RP specimen. Locally advanced disease was defined as a pT-stage ≥3. International Society of Urological Pathology (ISUP) groups were used for pathological grading. Qualitative and quantitative variables were compared using chi-square and Wilcoxon tests; logistic regression analyses assessed the association of MetS and its components with pathological data. Statistical significance was defined as a P<0.05. Among 567 men, 249 (44%) had MetS. In a multivariate model including preoperative prostate-specific antigen, biopsy ISUP-score, clinical T-stage, age, and ethnicity: we found that MetS was an independent risk factor for positive margins, and ISUP group ≥4 on the RP specimen (odds ratio [OR] = 1.5; 95% CI: 1.1-2.3; P = 0.035; OR = 2.0; 95% CI: 1.1-4.0; P = 0.044, respectively). In addition, low HDL-cholesterol level was associated with locally advanced PCa (OR = 1.6; 95% CI: 1.1-2.4; P = 0.024). Risks of adverse pathological features increased with the number of MetS components: having ≥ 4 MetS components was significantly associated with higher risk of ISUP group ≥ 4 and higher risk of positive margins (OR = 1.9; 95% CI: 1.1-3.3; P = 0.017; OR = 1.8; 95% CI: 1.1-2.8; P = 0.007, respectively). MetS was an independent predictive factor for

  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. 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.

  15. 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.

  16. Medical, psychological and social features in a large cohort of adults with Prader-Willi syndrome: experience from a dedicated centre in France.

    Science.gov (United States)

    Laurier, V; Lapeyrade, A; Copet, P; Demeer, G; Silvie, M; Bieth, E; Coupaye, M; Poitou, C; Lorenzini, F; Labrousse, F; Molinas, C; Tauber, M; Thuilleaux, D; Jauregi, J

    2015-05-01

    Prader-Willi syndrome (PWS) is a developmental genetic disorder characterised by a variable expression of medical, cognitive and behavioural symptoms. In adulthood, the prevalence and severity of these symptoms determine the quality of life of the affected persons. Because of their rare disease condition, data on health and social problems in adults with PWS are scarce. In this research, we present medical, psychological and social features of a large cohort of adults admitted to a specialised PWS centre in France and analyse the differences according to genotype, gender and age. Data from 154 patients (68 men/86 women), with a median age of 27 years (range 16-54), were collected during their stay in our centre. Clinical histories were completed using information from parents or main caregivers, and the same medical team performed the diagnosis of different clinical conditions. Statistical analyses were performed to determine the influence of factors such as genotype, age or gender. Paternal deletion genotype was the most frequent (65%) at all ages. Most patients had mild or moderate intellectual disability (87%). Only 30% had studied beyond primary school and 70% were in some special educational or working programme. Most of them lived in the family home (57%). The most prevalent somatic comorbidities were scoliosis (78%), respiratory problems (75%), dermatological lesions (50%), hyperlipidaemia (35%), hypothyroidism (26%), Type 2 diabetes mellitus (25%) and lymph oedema (22%). Some form of psychotropic treatment was prescribed in 58% of subjects, and sex hormones in 43%. Patients with deletion had a higher body mass index (44 vs. 38.9 kg/m(2)) and displayed higher frequency of sleep apnoeas. Non-deletion patients received insulin treatment (19% vs. 4%) and antipsychotic treatment (54.8% vs. 32.7%) more frequently. No difference was observed in the prevalence of Type 2 diabetes between the two genotype groups. Patients >27 years of age had a higher rate of

  17. 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

  18. Goldenhar syndrome

    Directory of Open Access Journals (Sweden)

    Neeraj Sharma

    2013-01-01

    Full Text Available Goldenhar syndrome is a syndrome of complex structures developing from first and second branchial arches during blastogenesis. The etiology of this rare disease is not fully understood, as it has shown itself variable genetically and of unclear causes. The disorder is characterized by a wide spectrum of symptoms and physical features that may vary greatly in range and severity from case to case. Here we present a unique case of Goldenhar syndrome with absence of left condyle, hypoplasia of the zygomatic bone, no pneumatization of the mastoid process, underdeveloped mandible, bifid tongue and the skin tags in the preauricular area.

  19. 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.

  20. FEATURE ARTICLE

    African Journals Online (AJOL)

    X, the insulin resistance syndrome, cardio-metabolic syndrome, dysmetabolic ... A cluster of risk factors for cardiovascular disease and type 2 diabetes mellitus .... Prevention of type 2 .... conference on scientific issues related to management.

  1. Five-year follow-up of maxillary distraction osteogenesis on the dentofacial structures of children with cleft lip and palate.

    Science.gov (United States)

    Gürsoy, Seda; Hukki, Jyri; Hurmerinta, Kirsti

    2010-04-01

    To determine the long-term outcomes of maxillary distraction osteogenesis (DO) on skeletal and dental structures of growing children with cleft lip and palate. Severe maxillary deficiencies were treated with a rigid external distractor device followed by a consolidation period. Preoperative and postoperative orthodontic treatment lasted a mean of 14 months and 16 months, respectively. The landmarks on standard lateral cephalometric x-rays were digitized and angular and linear measurements were compared by Student's t test to assess the changes before distraction, after distraction, after consolidation, at 1-year follow-up, and at 2-year follow-up. Long-term follow-up (5 years) was interpreted according to mean values because of the small sample size. During DO, the maxilla was horizontally advanced and moved downward as indicated by the significant changes at the SNA and ANB angles (13 degrees) and at maxillary points A, ANS, and PNS. The increase at the divergence between the maxilla and mandible (ANS-PNS/Me-Go) was found to be significant. The mandible (B, Pg, Me) also moved downward (2-4 mm) and backward (Gn) significantly because of mandibular autorotation. The overjet increased (mean increase, 13.7 mm) and the overbite decreased significantly. The advancement of the upper incisors (13.3 mm) and upper molars (12.3 mm) was slightly more than the skeletal points. In a long-term follow-up (5 years), the ANB angle and horizontal overjet continued to decrease but both values remained positive, indicating a Class I relationship. This cephalometric study of young adolescents with cleft lips and palates found great improvement in dentofacial structure after maxillary DO and stability in maxillary skeletal advancement. During a 5-year follow-up, the achieved dentoskeletal treatment outcome was partly diminished. The extreme need for maxillary advancement or facial correction because of psychosocial stress and providing an easier approach for finalizing osteotomy are the

  2. 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 < 0.01). 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

  3. 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

  4. 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...

  5. Neurofibromatosis-Noonan syndrome or LEOPARD Syndrome? A clinical dilemma.

    Directory of Open Access Journals (Sweden)

    Tullu M

    2000-04-01

    Full Text Available Neurofibromatosis (NF, Noonan syndrome (NS, and LEOPARD syndrome are all autosomal dominant conditions, each being a distinct clinical entity by itself. Rarely, one encounters cases with features of NF and NS and is termed as the ′Neurofibromatosis-Noonan syndrome′ (NF-NS. The authors report a clinical dilemma with major clinical features of the NF-NS syndrome and LEOPARD syndrome co-existing in the same patient. Also, features of Noonan syndrome and LEOPARD syndrome are compared with the case reported.

  6. 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....

  7. The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome

    NARCIS (Netherlands)

    Schonewolf-Greulich, B.; Tejada, M.I.; Stephens, K.; Hadzsiev, K.; Gauthier, J.; Brondum-Nielsen, K.; Pfundt, R.P.; Ravn, K.; Maortua, H.; Gener, B.; Martinez-Bouzas, C.; Piton, A.; Rouleau, G.; Clayton-Smith, J.; Kleefstra, T.; Bisgaard, A.M.; Tumer, Z.

    2016-01-01

    Missense MECP2 variants can have various phenotypic effects ranging from a normal phenotype to typical Rett syndrome (RTT). In females, the phenotype can also be influenced by the X-inactivation pattern. In this study, we present detailed clinical descriptions of six patients with a rare base-pair

  8. 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; Kolehmainen, Marjukka

    2016-01-01

    Background: A healthy Nordic diet is associated with improvements in cardiometabolic risk factors, but the effect on lipidomic profile is not known. Objective: The aim was to investigate how a healthy Nordic diet affects the fasting plasma lipidomic profile in subjects with metabolic syndrome. Me...

  9. 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)

  10. [Poland's syndrome].

    Science.gov (United States)

    Slezak, R; Sasiadek, M

    2000-08-01

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

  11. Differences in histological features and PD-L1 expression between sporadic microsatellite instability and Lynch-syndrome-associated disease in Japanese patients with colorectal cancer.

    Science.gov (United States)

    Yamada, Rin; Yamaguchi, Tatsuro; Iijima, Takeru; Wakaume, Rika; Takao, Misato; Koizumi, Koichi; Hishima, Tsunekazu; Horiguchi, Shin-Ichiro

    2018-06-01

    The field of immunotherapy has recently focused on cancers with microsatellite instability (MSI). These cancers include both Lynch-syndrome-associated tumors, which are caused by mismatch repair (MMR) germline mutations, and sporadic MSI tumors, which are mainly attributed to MLH1 promoter methylation. The present study aimed to clarify differences in the histological and PD-L1 expression profiles between these two types of MSI cancers in Japanese patients. Among 908 cases of colorectal cancer treated via surgical resection from 2008 to 2014, we identified 64 MSI cancers, including 36 sporadic MSI and 28 Lynch-syndrome-associated cancers, using a BRAF V600E mutation analysis and MLH1 methylation analysis. Of the latter subgroup, 21 (75%) harbored MMR germline mutations. The following were more frequent with sporadic MSI than with Lynch syndrome associated cancers: poor differentiation (50.0 vs. 7.1%, P = 0.0002), especially solid type (30.6 vs. 3.6%, P = 0.0061); medullary morphology (19.4 and 0%, P = 0.015), Crohn-like lymphoid reaction (50.0 vs. 25.0%, P = 0.042), and PD-L1 expression (25.0 vs. 3.6%, P = 0.034). However, the groups did not differ in terms of the mean invasive front and intratumoral CD8-positive cell densities. In a logistic regression analysis, PD-L1 expression correlated with poor differentiation (odds ratio: 7.65, 95% confidence interval: 1.55-37.7, P = 0.012), but not with the difference between sporadic MSI cancer and Lynch-syndrome-associated cancer (odds ratio: 4.74, 95% confidence interval: 0.50-45.0, P = 0.176). Therefore, compared with Lynch-syndrome-associated cancers, sporadic MSI cancers are more frequently solid, poorly differentiated medullary cancers that express PD-L1.

  12. 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.

  13. 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.

  14. Cardiofaciocutaneous syndrome: A rare entity

    Directory of Open Access Journals (Sweden)

    S Pavithra

    2012-01-01

    Full Text Available The cardiofaciocutaneous (CFC syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation and characteristic dysmorphic features. We, thus, report a rare case of this syndrome in a 1-year-old child who presented with typical features of CFC syndrome.

  15. Steele Richardson Olszewski syndrome

    Directory of Open Access Journals (Sweden)

    Vijayashree S Gokhale

    2013-01-01

    Full Text Available Parkinson′s disease and its plus syndromes are an important cause of morbidity in the geriatric age group. Its plus syndromes show a myriad of clinical features characterized by progressive symptoms. Here we present a 65-year-old woman with progressive "Parkinsonian-like features," i.e., mask-like face, slowness of all movements and tendency to fall, and difficulty in eye movements, leading to the diagnosis of Steele Richardson Olszewski Syndrome or progressive supranuclear palsy.

  16. Oral features and computerized rehabilitation of a young patient with CHARGE syndrome using minimally invasive long-term interim CAD-CAM restorations.

    Science.gov (United States)

    Liebermann, Anja; Rafael, Caroline Freitas; Edelhoff, Daniel; Ramberger, Marc; Schweiger, Josef; Maziero Volpato, Claudia Angela; Saeidi Pour, Reza

    2017-04-01

    Patients with CHARGE syndrome (where CHARGE stands for coloboma of the iris or retina, heart defects or cardiac malformations, atresia/stenosis of the choanae, retardation of growth and development, genital anomalies, and ear abnormalities) present several orofacial anomalies. Their treatment depends on the specific type of manifestation. To perform the complex oral rehabilitation and achieve a conservative, esthetic, and functional exploration of the definitive treatment goal, computer-aided design and computer-aided manufacturing (CAD-CAM) polymers can be used as long-term interim restorations. This article reports the treatment of a young patient with CHARGE syndrome combined with oral alterations. CAD-CAM polymers offer an intermediate treatment with satisfying esthetics and function at low biological cost until bone growth is completed. This period facilitates additional planning for the definitive restoration. Copyright © 2016 Editorial Council for the Journal of Prosthetic Dentistry. Published by Elsevier Inc. All rights reserved.

  17. Germline MLH1, MSH2 and MSH6 variants in Brazilian patients with colorectal cancer and clinical features suggestive of Lynch Syndrome.

    Science.gov (United States)

    Schneider, Nayê Balzan; Pastor, Tatiane; Paula, André Escremim de; Achatz, Maria Isabel; Santos, Ândrea Ribeiro Dos; Vianna, Fernanda Sales Luiz; Rosset, Clévia; Pinheiro, Manuela; Ashton-Prolla, Patricia; Moreira, Miguel Ângelo Martins; Palmero, Edenir Inêz

    2018-05-01

    Lynch syndrome (LS) is the most common hereditary colorectal cancer syndrome, caused by germline mutations in one of the major genes involved in mismatch repair (MMR): MLH1, MSH2, MSH6 and more rarely, PMS2. Recently, germline deletions in EPCAM have been also associated to the syndrome. Most of the pathogenic MMR mutations found in LS families occur in MLH1 or MSH2. Gene variants include missense, nonsense, frameshift mutations, large genomic rearrangements and splice-site variants and most of the studies reporting the molecular characterization of LS families have been conducted outside South America. In this study, we analyzed 60 unrelated probands diagnosed with colorectal cancer and LS criteria. Testing for germline mutations and/or rearrangements in the most commonly affected MMR genes (MLH1, MSH2, EPCAM and MSH6) was done by Sanger sequencing and MLPA. Pathogenic or likely pathogenic variants were identified in MLH1 or MSH2 in 21 probands (35.0%). Of these, approximately one-third were gene rearrangements. In addition, nine variants of uncertain significance (VUS) were identified in 10 (16.6%) of the sixty probands analyzed. Other four novel variants were identified, only in MLH1. Our results suggest that MSH6 pathogenic variants are not common among Brazilian LS probands diagnosed with CRC and that MMR gene rearrangements account for a significant proportion of the germline variants in this population underscoring the need to include rearrangement analysis in the molecular testing of Brazilian individuals with suspected Lynch syndrome. © 2018 The Authors. Cancer Medicine published by John Wiley & Sons Ltd.

  18. The Role of ?786T/C Polymorphism in the Endothelial Nitric Oxide Synthase Gene in Males with Clinical and Biochemical Features of the Metabolic Syndrome

    OpenAIRE

    Misiak, Blazej; Krolik, Marta; Kukowka, Anna; Lewera, Anna; Leszczynski, Przemyslaw; Stankiewicz-Olczyk, Joanna; Slezak, Ryszard

    2011-01-01

    Background. Extensive evidence, arising from models of endothelial nitric oxide synthase gene (NOS3)-knockout mice supports the role of endothelial malfunction in the pathogenesis of the metabolic syndrome (MS). Aims. The aim of this study was to evaluate the role of −786T/C polymorphism in the etiology of MS and assess previously reported interaction with cigarette smoking. Methods. Based on International Diabetes Federation 2005 criteria, we recruited randomly 152 subjects with MS and 75 su...

  19. Understanding Bartter syndrome and Gitelman syndrome.

    Science.gov (United States)

    Fremont, Oliver T; Chan, James C M

    2012-02-01

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

  20. Bimodal Modulation of Ipsilateral Spinal-Coeruleo-Spinal Pathway in CRPS: A Novel Model for Explaining Different Clinical Features of the Syndrome.

    Science.gov (United States)

    Carcamo, Cesar R

    2015-08-01

    The objective is to present a hypothesis to explain the sensory, autonomic, and motor disturbances associated with complex regional pain syndrome (CRPS) syndrome. The author reviewed the available and relevant literature, which was supplemented with research on experimental animal models, with a focus on how they may translate into humans, particularly in areas about pathophysiologic mechanisms of CRPS. We propose that different CRPS subtypes may result from facilitative or inhibitory influences exerted by the spinal-coeruleo-spinal pathway in three sites at the spinal cord: the dorsal horn (DH), intermediolateral cell column (IML) and ventral horn (VH). A facilitatory influence over DH may have a pronociceptive effect that explains exacerbated pain, sensory disturbances, and spreading sensitization and neuroinflammation. Conversely, a facilitatory influence over preganglionic neurons located in IML cell column may increase sympathetic outflow with peripheral vasoconstriction, which leads to cold skin, ipsilateral limb ischaemia, and sympathetically maintained pain (SMP). For patients presenting with these symptoms, a descending inhibitory influence would be predicted to result in decreased sympathetic outflow and warm skin, as well as impairment of peripheral vasoconstrictor reflexes. Finally, a descending inhibitory influence over VH could explain muscle weakness and decreased active range of motion, while also facilitating motor reflexes, tremor and dystonia. The proposed model provides a mechanistically based diagnostic scheme for classifying and explaining the sensory, autonomic and motor disturbances associated with CRPS syndrome. Wiley Periodicals, Inc.

  1. Clinical Features and Genetic Background of the Periodic Fever Syndrome with Aphthous Stomatitis, Pharyngitis, and Adenitis: A Single Center Longitudinal Study of 81 Patients

    Directory of Open Access Journals (Sweden)

    Daša Perko

    2015-01-01

    Full Text Available PFAPA syndrome is the most common autoinflammatory disorder in childhood with unknown etiology. The aim of our study was clinical evaluation of PFAPA patients from a single tertiary care center and to determine whether variations of AIM2, MEFV, NLRP3, and MVK genes are involved in PFAPA pathogenesis. Clinical and laboratory data of consecutive patients with PFAPA syndrome followed up at the University Children’s Hospital, Ljubljana, were collected from 2008 to 2014. All four genes were PCR amplified and directly sequenced. Eighty-one patients fulfilled criteria for PFAPA syndrome, 50 (63% boys and 31 (37% girls, with mean age at disease onset of 2.1 ± 1.5 years. Adenitis, pharyngitis, and aphthae were present in 94%, 98%, and 56%, respectively. Family history of recurrent fevers in childhood was positive in 78%. Nineteen variants were found in 17/62 (27% patients, 4 different variants in NLRP3 gene in 13 patients, and 6 different variants in MEFV gene in 5 patients, and 2 patients had 2 different variants. No variants of clinical significance were found in MVK and AIM2 genes. Our data suggest that PFAPA could be the result of multiple low-penetrant variants in different genes in combination with epigenetic and environmental factors leading to uniform clinical picture.

  2. Epilepsy in KCNH1-related syndromes

    NARCIS (Netherlands)

    Mastrangelo, Mario; Scheffer, Ingrid E.; Bramswig, Nuria C.; Nair, Lal. D. V.; Myers, Candace T.; Dentici, Maria Lisa; Korenke, Georg C.; Schoch, Kelly; Campeau, Philippe M.; White, Susan M.; Shashi, Vandana; Kansagra, Sujay; Van Essen, Anthonie J.; Leuzzi, Vincenzo

    Aim. KCNH1 mutations have been identified in patients with Zimmermann-Laband syndrome and Temple-Baraitser syndrome, as well as patients with uncharacterized syndromes with intellectual disability and overlapping features. These syndromes include dysmorphic facial features, nail hypo/aplasia, thumb

  3. One-stage closure of isolated cleft palate with the Veau-Wardill-Kilner V to Y pushback procedure or the Cronin modification. IV. Cephalometric comparison of transverse dentofacial morphology.

    Science.gov (United States)

    Heliövaara, A

    1994-02-01

    The transverse dentofacial morphology of 116 consecutive patients with isolated cleft palate was studied by PA-headfilms at 17-20 years of age. One-stage soft and hard palate closure had been carried out at the mean age of 1.8 years using the Veau-Wardill-Kilner or the Cronin mucoperiosteal palatal V-Y pushback technique. In multivariate statistical analyses no significant findings were observed with regard to craniofacial measurements and operation method, additional palate operations, cleft extent at birth or associated minor anomalies. The effect of sex was consistently in the same direction with males having larger values. The bizygomatic width (Zydx-Zysin) was greater for those who had familial disposition for clefts. No asymmetries were detected.

  4. Prognosis of Cyclic Vomiting Syndrome

    Directory of Open Access Journals (Sweden)

    J. Gordon Millichap

    2016-03-01

    Full Text Available Investigators from Teikyo University School of Medicine, Tokyo, Japan, evaluated the clinical features, prognosis, and prophylaxis of cyclic vomiting syndrome and the relationship between the syndrome and levels of adrenocorticotropic/antidiuretic hormones (ACTH/ADH.

  5. Duplication of C7orf58, WNT16 and FAM3C in an obese female with a t(7;22)(q32.1;q11.2) chromosomal translocation and clinical features resembling Coffin-Siris Syndrome.

    Science.gov (United States)

    Zhu, Jun; Qiu, Jun; Magrane, Gregg; Abedalthagafi, Malak; Zanko, Andrea; Golabi, Mahin; Chehab, Farid F

    2012-01-01

    We characterized the t(7;22)(q32;q11.2) chromosomal translocation in an obese female with coarse features, short stature, developmental delay and a hypoplastic fifth digit. While these clinical features suggest Coffin-Siris Syndrome (CSS), we excluded a CSS diagnosis by exome sequencing based on the absence of deleterious mutations in six chromatin-remodeling genes recently shown to cause CSS. Thus, molecular characterization of her translocation could delineate genes that underlie other syndromes resembling CSS. Comparative genomic hybridization microarrays revealed on chromosome 7 the duplication of a 434,682 bp region that included the tail end of an uncharacterized gene termed C7orf58 (also called CPED1) and spanned the entire WNT16 and FAM3C genes. Because the translocation breakpoint on chromosome 22 did not disrupt any apparent gene, her disorder was deemed to result from the rearrangement on chromosome 7. Mapping of yeast and bacterial artificial chromosome clones by fluorescent in situ hybridization on chromosome spreads from this patient showed that the duplicated region and all three genes within it were located on both derivative chromosomes 7 and 22. Furthermore, DNA sequencing of exons and splice junctional regions from C7orf58, WNT16 and FAM3C revealed the presence of potential splice site and promoter mutations, thereby augmenting the detrimental effect of the duplicated genes. Hence, dysregulation and/or disruptions of C7orf58, WNT16 and FAM3C underlie the phenotype of this patient, serve as candidate genes for other individuals with similar clinical features and could provide insights into the physiological role of the novel gene C7orf58.

  6. Duplication of C7orf58, WNT16 and FAM3C in an obese female with a t(7;22(q32.1;q11.2 chromosomal translocation and clinical features resembling Coffin-Siris Syndrome.

    Directory of Open Access Journals (Sweden)

    Jun Zhu

    Full Text Available We characterized the t(7;22(q32;q11.2 chromosomal translocation in an obese female with coarse features, short stature, developmental delay and a hypoplastic fifth digit. While these clinical features suggest Coffin-Siris Syndrome (CSS, we excluded a CSS diagnosis by exome sequencing based on the absence of deleterious mutations in six chromatin-remodeling genes recently shown to cause CSS. Thus, molecular characterization of her translocation could delineate genes that underlie other syndromes resembling CSS. Comparative genomic hybridization microarrays revealed on chromosome 7 the duplication of a 434,682 bp region that included the tail end of an uncharacterized gene termed C7orf58 (also called CPED1 and spanned the entire WNT16 and FAM3C genes. Because the translocation breakpoint on chromosome 22 did not disrupt any apparent gene, her disorder was deemed to result from the rearrangement on chromosome 7. Mapping of yeast and bacterial artificial chromosome clones by fluorescent in situ hybridization on chromosome spreads from this patient showed that the duplicated region and all three genes within it were located on both derivative chromosomes 7 and 22. Furthermore, DNA sequencing of exons and splice junctional regions from C7orf58, WNT16 and FAM3C revealed the presence of potential splice site and promoter mutations, thereby augmenting the detrimental effect of the duplicated genes. Hence, dysregulation and/or disruptions of C7orf58, WNT16 and FAM3C underlie the phenotype of this patient, serve as candidate genes for other individuals with similar clinical features and could provide insights into the physiological role of the novel gene C7orf58.

  7. Waardenburg syndrome

    Directory of Open Access Journals (Sweden)

    Tagra Sunita

    2006-01-01

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

  8. Olmsted syndrome

    Directory of Open Access Journals (Sweden)

    Kumar Pramod

    2008-01-01

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

  9. Reiter's Syndrome.

    Science.gov (United States)

    Savant, S S; Fernandez, J C; Dhurandhar, M W; Fernandez, R J

    1979-01-01

    A case of Reiter's syndrome occurring in a young mate aged 20 years having extensive skin lesions of keratoderina blenoffhagica is presented along with a review of literature. Although urethritis was absent, other clinical and histopathological features of the cutaneous lesions led us to the diagnosis. The-possible relationship of postural psoriasis to Reiter's syndrome is discussed. Failure of the patient to respond satisfactorily to steroids, antibiotics etc, prompted the use of rnethotrexate in the case. The result was dramatic, as the patient completely recovered within ten days of starting treatment.

  10. A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome.

    Science.gov (United States)

    Ballew, Bari J; Joseph, Vijai; De, Saurav; Sarek, Grzegorz; Vannier, Jean-Baptiste; Stracker, Travis; Schrader, Kasmintan A; Small, Trudy N; O'Reilly, Richard; Manschreck, Chris; Harlan Fleischut, Megan M; Zhang, Liying; Sullivan, John; Stratton, Kelly; Yeager, Meredith; Jacobs, Kevin; Giri, Neelam; Alter, Blanche P; Boland, Joseph; Burdett, Laurie; Offit, Kenneth; Boulton, Simon J; Savage, Sharon A; Petrini, John H J

    2013-08-01

    Dyskeratosis congenita (DC) is a heterogeneous inherited bone marrow failure and cancer predisposition syndrome in which germline mutations in telomere biology genes account for approximately one-half of known families. Hoyeraal Hreidarsson syndrome (HH) is a clinically severe variant of DC in which patients also have cerebellar hypoplasia and may present with severe immunodeficiency and enteropathy. We discovered a germline autosomal recessive mutation in RTEL1, a helicase with critical telomeric functions, in two unrelated families of Ashkenazi Jewish (AJ) ancestry. The affected individuals in these families are homozygous for the same mutation, R1264H, which affects three isoforms of RTEL1. Each parent was a heterozygous carrier of one mutant allele. Patient-derived cell lines revealed evidence of telomere dysfunction, including significantly decreased telomere length, telomere length heterogeneity, and the presence of extra-chromosomal circular telomeric DNA. In addition, RTEL1 mutant cells exhibited enhanced sensitivity to the interstrand cross-linking agent mitomycin C. The molecular data and the patterns of inheritance are consistent with a hypomorphic mutation in RTEL1 as the underlying basis of the clinical and cellular phenotypes. This study further implicates RTEL1 in the etiology of DC/HH and immunodeficiency, and identifies the first known homozygous autosomal recessive disease-associated mutation in RTEL1.

  11. A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome.

    Directory of Open Access Journals (Sweden)

    Bari J Ballew

    2013-08-01

    Full Text Available Dyskeratosis congenita (DC is a heterogeneous inherited bone marrow failure and cancer predisposition syndrome in which germline mutations in telomere biology genes account for approximately one-half of known families. Hoyeraal Hreidarsson syndrome (HH is a clinically severe variant of DC in which patients also have cerebellar hypoplasia and may present with severe immunodeficiency and enteropathy. We discovered a germline autosomal recessive mutation in RTEL1, a helicase with critical telomeric functions, in two unrelated families of Ashkenazi Jewish (AJ ancestry. The affected individuals in these families are homozygous for the same mutation, R1264H, which affects three isoforms of RTEL1. Each parent was a heterozygous carrier of one mutant allele. Patient-derived cell lines revealed evidence of telomere dysfunction, including significantly decreased telomere length, telomere length heterogeneity, and the presence of extra-chromosomal circular telomeric DNA. In addition, RTEL1 mutant cells exhibited enhanced sensitivity to the interstrand cross-linking agent mitomycin C. The molecular data and the patterns of inheritance are consistent with a hypomorphic mutation in RTEL1 as the underlying basis of the clinical and cellular phenotypes. This study further implicates RTEL1 in the etiology of DC/HH and immunodeficiency, and identifies the first known homozygous autosomal recessive disease-associated mutation in RTEL1.

  12. Nonmotor Features in Atypical Parkinsonism.

    Science.gov (United States)

    Bhatia, Kailash P; Stamelou, Maria

    2017-01-01

    Atypical parkinsonism (AP) comprises mainly multiple system atrophy (MSA), progressive supranuclear palsy (PSP), and corticobasal degeneration (CBD), which are distinct pathological entities, presenting with a wide phenotypic spectrum. The classic syndromes are now called MSA-parkinsonism (MSA-P), MSA-cerebellar type (MSA-C), Richardson's syndrome, and corticobasal syndrome. Nonmotor features in AP have been recognized almost since the initial description of these disorders; however, research has been limited. Autonomic dysfunction is the most prominent nonmotor feature of MSA, but also gastrointestinal symptoms, sleep dysfunction, and pain, can be a feature. In PSP and CBD, the most prominent nonmotor symptoms comprise those deriving from the cognitive/neuropsychiatric domain. Apart from assisting the clinician in the differential diagnosis with Parkinson's disease, nonmotor features in AP have a big impact on quality of life and prognosis of AP and their treatment poses a major challenge for clinicians. © 2017 Elsevier Inc. All rights reserved.

  13. The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome

    DEFF Research Database (Denmark)

    Schönewolf-Greulich, Bitten; Tejada, Maria-Isabel; Stephens, K

    2016-01-01

    . Intriguingly, the mother of an affected male patient is an asymptomatic carrier of this variant. It is therefore likely that the p.(Arg309Trp) variation does not necessarily lead to male lethality, and it results in a wide range of clinical features in females, probably influenced by different X......-pair substitution affecting Arg309 at the C-terminal end of the transcriptional repression domain (TRD). All patients have intellectual disability and present with some RTT features, but they do not fulfill the clinical criteria for typical or atypical RTT. Most of the patients also have mild facial dysmorphism...

  14. Complex posttraumatic stress disorder: The need to consolidate a distinct clinical syndrome or to reevaluate features of psychiatric disorders following interpersonal trauma?

    Science.gov (United States)

    Giourou, Evangelia; Skokou, Maria; Andrew, Stuart P; Alexopoulou, Konstantina; Gourzis, Philippos; Jelastopulu, Eleni

    2018-03-22

    Complex posttraumatic stress disorder (Complex PTSD) has been recently proposed as a distinct clinical entity in the WHO International Classification of Diseases, 11 th version, due to be published, two decades after its first initiation. It is described as an enhanced version of the current definition of PTSD, with clinical features of PTSD plus three additional clusters of symptoms namely emotional dysregulation, negative self-cognitions and interpersonal hardship, thus resembling the clinical features commonly encountered in borderline personality disorder (BPD). Complex PTSD is related to complex trauma which is defined by its threatening and entrapping context, generally interpersonal in nature. In this manuscript, we review the current findings related to traumatic events predisposing the above-mentioned disorders as well as the biological correlates surrounding them, along with their clinical features. Furthermore, we suggest that besides the present distinct clinical diagnoses (PTSD; Complex PTSD; BPD), there is a cluster of these comorbid disorders, that follow a continuum of trauma and biological severity on a spectrum of common or similar clinical features and should be treated as such. More studies are needed to confirm or reject this hypothesis, particularly in clinical terms and how they correlate to clinical entities' biological background, endorsing a shift from the phenomenologically only classification of psychiatric disorders towards a more biologically validated classification.

  15. Deletion of 11q12.3-11q13.1 in a patient with intellectual disability and childhood facial features resembling Cornelia de Lange syndrome

    DEFF Research Database (Denmark)

    Boyle, Martine Isabel; Jespersgaard, Cathrine; Nazaryan, Lusine

    2015-01-01

    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...

  16. Serotonin syndrome

    Science.gov (United States)

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

  17. Impact of intermittent hypoxia and exercise on blood pressure and metabolic features from obese subjects suffering sleep apnea-hypopnea syndrome.

    Science.gov (United States)

    González-Muniesa, P; Lopez-Pascual, A; de Andrés, J; Lasa, A; Portillo, M P; Arós, F; Durán, J; Egea, C J; Martinez, J A

    2015-09-01

    Strategies designed to reduce adiposity and cardiovascular-accompanying manifestations have been based on nutritional interventions conjointly with physical activity programs. The aim of this 13-week study was to investigate the putative benefits associated to hypoxia plus exercise on weight loss and relevant metabolic and cardiorespiratory variables, when prescribed to obese subjects with sleep apnea syndrome following dietary advice. The participants were randomly distributed in the following three groups: control, normoxia, and hypoxia. All the subjects received dietary advice while, additionally, normoxia group was trained under normal oxygen concentration and Hypoxia group under hypoxic conditions. There was a statistically significant decrease in fat-free mass (Kg) and water (%) on the control compared to normoxia group (p hypoxia compared to control group (p hypoxia group showed some specific benefits concerning appetite and cardiometabolic-related measurements as exertion time and diastolic blood pressure, with a therapeutical potential.

  18. MR features of a case of afferent loop syndrome presenting as obstructive jaundice; IRM d'un syndrome de l'anse afferente revele par un ictere obstructif

    Energy Technology Data Exchange (ETDEWEB)

    Chevallier, P.; Souci, J.; Oddo, F.; Diaine, B.; Padovani, B. [Centre Hospitalier Regional et Universitaire de Nice, Hopital Archet 2., Service d' Imagerie Medicale, 06 - Nice (France); Gueyffier, C. [Centre Hospitalier Regional de Cannes, Service d' Hepato-Gastro-enterologie, 06 - Cannes (France)

    2001-02-01

    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)

  19. Understanding Legacy Features with Featureous

    DEFF Research Database (Denmark)

    Olszak, Andrzej; Jørgensen, Bo Nørregaard

    2011-01-01

    Java programs called Featureous that addresses this issue. Featureous allows a programmer to easily establish feature-code traceability links and to analyze their characteristics using a number of visualizations. Featureous is an extension to the NetBeans IDE, and can itself be extended by third...

  20. Patient with confirmed LEOPARD syndrome developing multiple melanoma

    OpenAIRE

    Colmant, Caroline; Franck, Deborah; Marot, Liliane; Matthijs, Gert; Sznajer, Yves; Blomme, Sandrine; Tromme, Isabelle

    2018-01-01

    LEOPARD syndrome, also known as Gorlin syndrome II, cardiocutaneous syndrome, lentiginosis profusa syndrome, Moynahan syndrome, was more recently coined as Noonan syndrome with multiple lentigines (NSML), inside the RASopathies. Historically, the acronym LEOPARD refers to the presence of distinctive clinical features such as: lentigines (L), electrocardiographic/conduction abnormalities (E), ocular hypertelorism (O), pulmonary stenosis (P), genital abnormalities (A), retardation of growth (R)...