Overlapping Clinical Features Between NAFLD and Metabolic Syndrome in Children

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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.

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

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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.

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

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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.

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)

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)

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

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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.

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

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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.

Radiological features of familial Gorlin-Goltz syndrome.

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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.

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.

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.

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).

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

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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.

Facial and Ocular Features of Marfan Syndrome

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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.

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

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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

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.

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

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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.

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

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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.

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

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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.

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

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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.

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

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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

Parkinsonian syndroms: Clinical phenotype, differential diagnosis and disease progression

International Nuclear Information System (INIS)

Storch, A.

2002-01-01

Parkinsonian syndromes include idiopathic Parkinson's disease (IPD), other neurodegenerative diseases with parkinsonism, the so-called atypical parkinsonian syndromes, and symptomatic parkinsonian syndromes, such as Wilson's disease. IPD is the most frequent disease with parkinsonism as the main clinical feature and is responsible for approx. 80% of all parkinsonian syndromes. Atypical parkinsonian syndromes are the most important differential diagnoses of IPD. The two most frequent types are multiple system atrophy (MSA) and progressive supranuclear palsy (PSP). For clinical diagnosis it is essential to take a careful medical history and to examine the patients physically in regular intervals. However, various clinico-pathological studies have shown that approx. 25% of patients with clinical diagnosis of IPD may have other causes of parkinsonism. Selected technical investigations, in particular functional imaging of the central dopaminergic system using PET or SPECT, may help to make clinical diagnosis more secure. This paper reviews the clinical features and diagnostic findings in diseases with parkinsonism and summarises the difficulties in establishing early and differential diagnoses. (orig.) [de

Clinical features and prognostic factors of Churg-Strauss syndrome.

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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.

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.

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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.

CLINICAL CASE OF PARKES-WEBER-RUBASHOV SYNDROME

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Zhdonec S. V.

2018-03-01

Full Text Available A clinical case of one variant of congenital venous angiodysplasia – Parkes Weber-Rubashov syndrome of the right lower extremity is presented in the article. The features of its clinical presentation and diagnosis difficulties are described. The analysis of the scientific data and own clinical observation showed that Parkes Weber-Rubashov syndrome belongs to the rare congenital disease of the vascular system, in some cases with the absence of typical clinical manifestations and combination with other disorders of the venous system. The best method for diagnosing the syndrome is radiopaque arteriography. The separation of the patent’s arteriovenous fistulas is justified as a radical method of its surgical treatment.

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

Three cases of Wolfram syndrome with different clinical aspects.

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Çamtosun, Emine; Şıklar, Zeynep; Kocaay, Pınar; Ceylaner, Serdar; Flanagan, Sarah E; Ellard, Sian; Berberoğlu, Merih

2015-03-01

Wolfram syndrome is an autosomal recessive disorder caused by mutations in the WFS1 gene. Clinical heterogeneity has been reported both within and between families with WFS1 mutations. The first case was diagnosed with insulin-dependent diabetes mellitus with positive for pancreatic autoantibodies and had a ketoacidotic attack in the follow-up period. The second case presented initially with optic atrophy and was diagnosed with behavioral and psychiatric problems at an early age. The third case had early onset insulin-dependent diabetes with multiple anomalies and congenital hypothyroidism. Many of these features have not been reported previously in patients with Wolfram syndrome. In all three patients homozygous mutations in WFS1 were identified. Wolfram syndrome is a disease where the characteristic features may present at different times. A diagnosis of Wolfram syndrome should therefore be considered even in the absence of the full spectrum of clinical features.

Rare features associated with Mobius syndrome: Report of two cases

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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.

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.

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

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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.

Clinical spectrum of silver - Russell syndrome

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Sapna N.K. Varma

2013-01-01

Full Text Available Silver - Russell syndrome is a clinically and genetically heterogenous condition characterized by severe intrauterine and postnatal growth retardation, craniofacial disproportion and normal intelligence downward curvature of the corner of the mouth, syndactyly and webbed fingers. Diagnosis of Silver - Russell syndrome remains clinical; no definite etiology or specific tests have been established. In the recent years, it has been shown that more than 38% of patients have hypomethylation in the imprinting control region 1 of 11p15 and one-tenth of patients carry a maternal uniparental disomy of chromosome seven. The pathophysiological mechanisms resulting in the Silver - Russell phenotype remain unknown despite the recent progress in deciphering the molecular defects associated with this condition. This case report describes the clinical features of Silver - Russell syndrome in a father and daughter.

Savant Syndrome: Clinical and Neuropsychological Features

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Ibrahim Durukan

2010-08-01

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

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.)

Psychopathological features in Noonan syndrome.

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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

An oral clinical approach to Gorlin-Goltz syndrome.

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Abreu, Lucas Guimaraes; Paiva, Saul Martins; Pretti, Henrique; Bastos Lages, Elizabeth Maria; Castro, Wagner Henriques

2015-01-01

Gorlin-Goltz syndrome is a rare hereditary disease that can have negative effects on one's quality of life. The main clinical features are multiple nevoid basal cell carcinomas, odontogenic keratocysts, congenital skeletal abnormalities, calcification of the falx cerebri, facial dysmorphism, and skin depressions (pits) on the palms and soles. Diagnosis is based on major and minor clinical and radiological criteria and can be confirmed by DNA analysis. This article describes the case of a child with Gorlin-Goltz syndrome and outlines the clinical manifestations of the disease.

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

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

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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.

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

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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.

Upper gastrointestinal bleeding caused by severe esophagitis: a unique clinical syndrome.

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Guntipalli, Prathima; Chason, Rebecca; Elliott, Alan; Rockey, Don C

2014-12-01

We have recognized a unique clinical syndrome in patients with upper gastrointestinal bleeding who are found to have severe esophagitis. We aimed to more clearly describe the clinical entity of upper gastrointestinal bleeding in patients with severe esophagitis. We conducted a retrospective matched case-control study designed to investigate clinical features in patients with carefully defined upper gastrointestinal bleeding and severe esophagitis. Patient data were captured prospectively via a Gastrointestinal Bleeding Healthcare Registry, which collects data on all patients admitted with gastrointestinal bleeding. Patients with endoscopically documented esophagitis (cases) were matched with randomly selected controls that had upper gastrointestinal bleeding caused by other lesions. Epidemiologic features in patients with esophagitis were similar to those with other causes of upper gastrointestinal bleeding. However, hematemesis was more common in patients with esophagitis 86% (102/119) than in controls 55% (196/357) (p bleeding than those without cirrhosis. We have described a unique clinical syndrome in patients with upper gastrointestinal bleeding who have erosive esophagitis. This syndrome is manifest by typical clinical features and is associated with favorable outcomes.

Meier-Gorlin syndrome Clinical genetics and genomics

NARCIS (Netherlands)

S. de Munnik (Sonja); E.H. Hoefsloot (Lies); J. Roukema (Jolt); J. Schoots (Jeroen); N.V.A.M. Knoers (Nine); H.G. Brunner; A.P. Jackson (Andrew); E. Bongers (Ernie)

2015-01-01

textabstractMeier-Gorlin syndrome (MGS) is a rare autosomal recessive primordial dwarfism disorder, characterized by microtia, patellar applasia/hypoplasia, and a proportionate short stature. Associated clinical features encompass feeding problems, congenital pulmonary emphysema, mammary hypoplasia

Clinical aspects of the fragile X syndrome.

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Brown, W Ted

2012-01-01

Fragile X syndrome patients express a wide array of cognitive and other gender-specific phenotypic features. These manifestations result not only from molecular mechanisms that are altered as a result of the expansion of a CGG-repeat region in the FMR1 promoter, but also genetic factors such as founder effects and mosaicism. In this chapter, I will summarize the many and varied features of fragile X syndrome as they present themselves in a clinical setting and describe the procedures that are used to diagnose patients. Finally, I will briefly touch on recent developments that will affect patient screening in the future.

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

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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.

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...

Meier-Gorlin syndrome Clinical genetics and genomics

NARCIS (Netherlands)

De Munnik, Sonja A.; Hoefsloot, Elisabeth H.; Roukema, Jolt; Schoots, Jeroen; Knoers, Nine Vam; Brunner, Han G.; Jackson, Andrew P.; Bongers, Ernie Mhf

2015-01-01

Meier-Gorlin syndrome (MGS) is a rare autosomal recessive primordial dwarfism disorder, characterized by microtia, patellar applasia/hypoplasia, and a proportionate short stature. Associated clinical features encompass feeding problems, congenital pulmonary emphysema, mammary hypoplasia in females

[Noonan syndrome can be diagnosed clinically and through molecular genetic analyses].

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Henningsen, Marie Krab; Jelsig, Anne Marie; Andersen, Helle; Brusgaard, Klaus; Ousager, Lilian Bomme; Hertz, Jens Michael

2015-08-03

Noonan syndrome is part of the group of RASopathies caused by germ line mutations in genes involved in the RAS/MAPK pathway. There is substantial phenotypic overlap among the RASopathies. Diagnosis of Noonan syndrome is often based on clinical features including dysmorphic facial features, short stature and congenital heart disease. Rapid advances in sequencing technology have made molecular genetic analyses a helpful tool in diagnosing and distinguishing Noonan syndrome from other RASopathies.

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

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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

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

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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.

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

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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

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

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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.

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

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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

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)

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

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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.

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

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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.

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

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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.

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

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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.

Clinical Experience of the Klippel-Trenaunay Syndrome

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Hyung Min Sung

2015-09-01

Full Text Available BackgroundThe Klippel-Trenaunay syndrome (KTS is characterized by three clinical features, namely cutaneous capillary malformations, venous malformations, and soft tissue and/or bony hypertrophy of the extremities. The varied manifestations are attributed to the unpredictable clinical nature and prognosis of the syndrome. To elucidate the clinical characteristics of this disease, we reviewed a relatively large number of KTS patients who presented to our vascular anomalies center.MethodsWe conducted a retrospective study with 19 patients who were diagnosed with KTS and treated in our vascular anomalies clinic between 2003 and 2014, and examined their demographic characteristics, their clinical features, and the treatments administered.ResultsThe sex distribution was balanced, with 9 (47% males and 10 (53% females. The mean follow-up period was 4.1 years (range, 7 months-9 years. Most of the patients received conservative treatments such as medication or physiotherapy. Compression therapies such as wearing of elastic garments/bandages were also administered, and surgical interventions were considered only when the patients became excessively symptomatic. Other treatments included laser therapy and sclerotherapy, and all the treatments were adjusted according to each case, tailored to the conditions of the individual patients.ConclusionsKTS is an extremely rare, multifactorial disorder that induces widely varied symptoms. Because of this unique feature, plastic surgeons, when not careful, tend to attach a one-sided importance to typical symptoms such as limb hypertrophy or capillary malformation and thus overlook other symptoms and clinical features. KTS can be suspected in all infants who show capillary malformations or limb hypertrophy and require a multi-disciplinary approach for comprehensive management.

Features of Polycystic Ovary Syndrome in adolescence.

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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.

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

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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

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

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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

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

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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%.

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

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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.

Clinical features of the exploding head syndrome.

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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.

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.

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

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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.

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

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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

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

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Paula Sandrin-Garcia

2007-01-01

Full Text Available The velocardiofacial syndrome (VCFS, a condition associated with 22q11.2 deletions, is characterized by a typical facies, palatal anomalies, learning disabilities, behavioral disturbances and cardiac defects. We investigated the frequency of these chromosomal deletions in 16 individuals with VCFS features who presented no cardiac anomalies, one of the main characteristics of VCFS. Fluorescent in situ hybridization (FISH with the N25 (D22S75; 22q11.2 probe revealed deletions in ten individuals (62%. Therefore, even in the absence of cardiac anomalies testing for the 22q11.2 microdeletions in individuals showing other clinical features of this syndrome is recommended.

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.)

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.

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

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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.

Spontaneous esophageal rupture - Boerhaave's syndrome: Clinical symptoms and radiographic findings

International Nuclear Information System (INIS)

Gaa, J.; Deininger, H.K.

1989-01-01

Spontaneous transmural rupture of the esophagus (Boerhaave's syndrome) is a life-threatening emergency. Prompt diagnosis is essential to a better prognosis, successful operative outcome and patient survival. The chest roentgenogram and the contrast esophagograms to follow are the most helpful diagnostic tests. The clinical manifestations are variable and may be misleading and thus delay accurate recognition. In our case report the major clinical features and radiological signs of Boerhaave's syndrome are described. The pathogenesis, characteristic clinical symptoms and the signs and radiological evaluation are reviewed. (orig.) [de

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

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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.

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

Analysis of clinic and osteal change in Turner syndrome (report of 15 cases)

International Nuclear Information System (INIS)

Ye Zhiqiu; Guo Qinglu; Feng Changzheng; Wei Beiyang; Xiao Wei; Liu Yongxi; Zhang Yan

2006-01-01

Objective: To research the clinical and osteal radiology imaging features in Turner's syndrome. Methods: Analyzed the clinical and osteal radiology imaging features of 15 Turner's syndrome. Results: 15 patients were Karyotyped into 3 groups I, 45, X, n=8; II, 46, XX, n=5; III, 46, XX/45, X, n = 2. Radiology imaging features: osteo-porosis, n=14; metacarpal sign, n=8; phahanx, n=9; cubitus valgus, n=10; vertebra steodystrophia, n=5; brachy-dactylya, n=9; basilar impression malformation, n=11. Conclusion: The terminal heights of Turner' s patients were marked lower than normal growth, hormone was deficiency, learning ability declined and the sex gland was hypoplastic. The typical imaging feature do main reference value to diagnosis. (authors)

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

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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.

Noonan syndrome and clinically related disorders

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Tartaglia, Marco; Gelb, Bruce D.; Zenker, Martin

2010-01-01

Noonan syndrome is a relatively common, clinically variable developmental disorder. Cardinal features include postnatally reduced growth, distinctive facial dysmorphism, congenital heart defects and hypertrophic cardiomyopathy, variable cognitive deficit and skeletal, ectodermal and hematologic anomalies. Noonan syndrome is transmitted as an autosomal dominant trait, and is genetically heterogeneous. So far, heterozygous mutations in nine genes (PTPN11, SOS1, KRAS, NRAS, RAF1, BRAF, SHOC2, MEK1 and CBL) have been documented to underlie this disorder or clinically related phenotypes. Based on these recent discoveries, the diagnosis can now be confirmed molecularly in approximately 75% of affected individuals. Affected genes encode for proteins participating in the RAS-mitogen-activated protein kinases (MAPK) signal transduction pathway, which is implicated in several developmental processes controlling morphology determination, organogenesis, synaptic plasticity and growth. Here, we provide an overview of clinical aspects of this disorder and closely related conditions, the molecular mechanisms underlying pathogenesis, and major genotype-phenotype correlations. PMID:21396583

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.

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

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Rice, Gillian; Patrick, Teresa; Parmar, Rekha; Taylor, Claire F.; Aeby, Alec; Aicardi, Jean; Artuch, Rafael; Montalto, Simon Attard; Bacino, Carlos A.; Barroso, Bruno; Baxter, Peter; Benko, Willam S.; Bergmann, Carsten; Bertini, Enrico; Biancheri, Roberta; Blair, Edward M.; Blau, Nenad; Bonthron, David T.; Briggs, Tracy; Brueton, Louise A.; Brunner, Han G.; Burke, Christopher J.; Carr, Ian M.; Carvalho, Daniel R.; Chandler, Kate E.; Christen, Hans-Jurgen; Corry, Peter C.; Cowan, Frances M.; Cox, Helen; D'Arrigo, Stefano; Dean, John; de Laet, Corinne; de Praeter, Claudine; Dery, Catherine; Ferrie, Colin D.; Flintoff, Kim; Frints, Suzanna G. M.; Garcia-Cazorla, Angels; Gener, Blanca; Goizet, Cyril; Goutieres, Francoise; Green, Andrew J.; Guet, Agnes; Hamel, Ben C. J.; Hayward, Bruce E.; Heiberg, Arvid; Hennekam, Raoul C.; Husson, Marie; Jackson, Andrew P.; Jayatunga, Rasieka; Jiang, Yong-Hui; Kant, Sarina G.; Kao, Amy; King, Mary D.; Kingston, Helen M.; Klepper, Joerg; van der Knaap, Marjo S.; Kornberg, Andrew J.; Kotzot, Dieter; Kratzer, Wilfried; Lacombe, Didier; Lagae, Lieven; Landrieu, Pierre Georges; Lanzi, Giovanni; Leitch, Andrea; Lim, Ming J.; Livingston, John H.; Lourenco, Charles M.; Lyall, E. G. Hermione; Lynch, Sally A.; Lyons, Michael J.; Marom, Daphna; McClure, John P.; McWilliam, Robert; Melancon, Serge B.; Mewasingh, Leena D.; Moutard, Marie-Laure; Nischal, Ken K.; Ostergaard, John R.; Prendiville, Julie; Rasmussen, Magnhild; Rogers, R. Curtis; Roland, Dominique; Rosser, Elisabeth M.; Rostasy, Kevin; Roubertie, Agathe; Sanchis, Amparo; Schiffmann, Raphael; Scholl-Burgi, Sabine; Seal, Sunita; Shalev, Stavit A.; Corcoles, C. Sierra; Sinha, Gyan P.; Soler, Doriette; Spiegel, Ronen; Stephenson, John B. P.; Tacke, Uta; Tan, Tiong Yang; Till, Marianne; Tolmie, John L.; Tomlin, Pam; Vagnarelli, Federica; Valente, Enza Maria; van Coster, Rudy N. A.; van der Aa, Nathalie; Vanderver, Adeline; Vles, Johannes S. H.; Voit, Thomas; Wassmer, Evangeline; Weschke, Bernhard; Whiteford, Margo L.; Willemsen, Michel A. A.; Zankl, Andreas; Zuberi, Sameer M.; Orcesi, Simona; Fazzi, Elisa; Lebon, Pierre; Crow, Yanick J.

2007-01-01

Aicardi-Goutieres syndrome (AGS) is a genetic encephalopathy whose clinical features mimic those of acquired in utero viral infection. AGS exhibits locus heterogeneity, with mutations identified in genes encoding the 3'-->5' exonuclease TREX1 and the three subunits of the RNASEH2 endonuclease

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

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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.

Marfan syndrome: clinical diagnosis and management.

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Dean, John C S

2007-07-01

Marfan syndrome is a multisystem connective tissue disorder usually associated with mutation in fibrillin, and occasionally with mutation in TGFBR1 or 2. The clinical diagnosis is made using the Ghent nosology, which will unequivocally diagnose or exclude Marfan syndrome in 86% of cases. Use of a care pathway can help implementation of the nosology in the clinic. The penetrance of some features is age dependent, so the nosology must be used with caution in children. Molecular testing may be helpful in this context. The nosology cannot be used in families with isolated aortic dissection, or with related conditions such as Loeys-Dietz syndrome, although it may help identify families for further diagnostic evaluation because they do not fulfill the nosology, despite a history of aneurysm. Prophylactic medical (eg beta-blockade) and surgical intervention is important in reducing the cardiovascular complications of Marfan syndrome. Musculoskeletal symptoms are common, although the pathophysiology is less clear--for example, the correlation between dural ectasia and back pain is uncertain. Symptoms in other systems require specialist review such as ophthalmology assessment of refractive errors and ectopia lentis. Pregnancy is a time of increased cardiovascular risk for women with Marfan syndrome, particularly if the aortic root exceeds 4 cm at the start of pregnancy. High-intensity static exercise should be discouraged although low-moderate intensity dynamic exercise may be beneficial. The diagnosis and management of Marfan syndrome requires a multidisciplinary team approach, in view of its multisystem effects and phenotypic variability.

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

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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.

Clinical features and imaging findings in a case of Capgras syndrome

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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

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

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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.

Radiologic features of preteus syndrome: A case report

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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.

[Clinical analysis of 6 cases of Bartter syndrome].

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Yin, Fang-mei; Zheng, Fang-qiu; Zhang, Xin; Wu, Mei-jun; Wei, Hong-yan; Ma, Zhong-shu; Lu, Biao; Qiu, Ming-cai

2011-03-01

To summarize the clinical characteristics of Bartter syndrome and investigate its pathogenesis. The clinical data of 6 cases of Bartter syndrome at our hospital from November 2006 to May 2010 were analyzed retrospectively. The onset age of Bartter syndrome was 13-35 years old. The main symptoms included weakness (6/6), paralysis (1/6), numbness (5/6) and tetany (4/6). All patients had normal blood pressure. The biochemical tests showed persistent hypokalemia, metabolic alkalosis (6/6) and hyperreninemia. The pathological examination of deltoid muscle biopsy showed the swelling, degeneration and necrosis of myocytes and the deposition of immunocomplex in myolemma. And the pathological examination of renal biopsy showed the hyperplasia of juxtaglomerular apparatus (5/6) and the deposition of immunocomplex. All symptoms were relieved after a therapy of potassium supplementation or a combination of indomethacin, spironolactone and immunosuppressant. When such clinical features as weakness, paralysis, tetany, hypokalemic alkalosis and normotension are encountered, Bartter syndrome should be suspected. Serum electrolytes, blood gas analysis and activation of the renin-angiotensin-aldosterone system should be examined for a definite diagnosis. The treatment of choice includes potassium and magnesium supplementation or in combination with prostaglandin synthetase inhibitor, aldosterone antagonist and immunosuppressant. Immunologic mechanism may participate in the course of Bartter syndrome.

Clinical features and pharmacotherapy of childhood monoamine neurotransmitter disorders.

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Ng, J; Heales, S J R; Kurian, M A

2014-08-01

Childhood neurotransmitter disorders are increasingly recognised as an expanding group of inherited neurometabolic syndromes. They are caused by disturbance in synthesis, metabolism, and homeostasis of the monoamine neurotransmitters, including the catecholamines (dopamine, norepinephrine, and epinephrine) and serotonin. Disturbances in monoamine neurotransmission will lead to neurological symptoms that often overlap with clinical features of other childhood neurological disorders (such as hypoxic ischaemic encephalopathy, cerebral palsy, other movement disorders, and paroxysmal conditions); consequently, neurotransmitter disorders are frequently misdiagnosed. The diagnosis of neurotransmitter disorders is made through detailed clinical assessment, analysis of cerebrospinal fluid neurotransmitters, and further supportive diagnostic investigations. Early and accurate diagnosis of neurotransmitter disorders is important, as many are amenable to therapeutic intervention. The principles of treatment for monoamine neurotransmitter disorders are mainly directly derived from understanding these metabolic pathways. In disorders characterized by enzyme deficiency, we aim to increase monoamine substrate availability, boost enzyme co-factor levels, reduce monoamine breakdown, and replace depleted levels of monoamines with pharmacological analogs as clinically indicated. Most monoamine neurotransmitter disorders lead to reduced levels of central dopamine and/or serotonin. Complete amelioration of motor symptoms is achievable in some disorders, such as Segawa's syndrome, and, in other conditions, significant improvement in quality of life can be attained with pharmacotherapy. In this review, we provide an overview of the clinical features and current treatment strategies for childhood monoamine neurotransmitter disorders.

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

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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.

Comparative Clinical Profile of Postural Orthostatic Tachycardia Patients With and Without Joint Hypermobility Syndrome

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Blair P Grubb

2010-04-01

Full Text Available Background: Autonomic dysfunction is common in patients with the joint hypermobility syndrome (JHS. However, there is a paucity of reported data on clinical features of Postural orthostatic tachycardia syndrome (POTS in patients suffering from JHS.Methods: This retrospective study was approved by our local Institutional Review Board (IRB. Over a period of 10 years, 26 patients of POTS were identified for inclusion in this study. All these patients had features of Joint Hypermobility Syndrome (by Brighton criterion. A comparison group of 39 patients with other forms of POTS were also followed in the autonomic clinic during the same time. We present a descriptive report on the comparative clinical profile of the clinical features of Postural Orthostatic Tachycardia patients with and without Joint Hypermobility syndrome. The data is presented as a mean±SD and percentages wherever applicable.Results: Out of 65 patients, 26 patients (all females, 20 Caucasians had POTS and JHS. The mean age at presentation of POTS was 24±13 (range 10-53 years vs 41±12 (range 19-65 years, P=0.0001, Migraine was a common co morbidity 73 vs 29% p=0,001. In two patients POTS was precipitated by pregnancy, and in three by surgery, urinary tract infection and a viral syndrome respectively. The common clinical features were fatigue (58%, orthostatic palpitations (54%, presyncope (58%, and syncope (62%.Conclusion: Patients with POTS and JHS appear to become symptomatic at an earlier age compared to POTS patients without JHS. In addition patients with JHS had a greater incidence of migraine and syncope than their non JHS counterparts.

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

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

1994-09-01

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

Spectrum of Features in Pterygium Syndrome

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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.

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)

Meier-Gorlin syndrome Clinical genetics and genomics

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Munnik, Sonja; Hoefsloot, Lies; Roukema, Jolt; Schoots, Jeroen; Knoers, Nine; Brunner, H.G.; Jackson, Andrew; Bongers, Ernie

2015-01-01

textabstractMeier-Gorlin syndrome (MGS) is a rare autosomal recessive primordial dwarfism disorder, characterized by microtia, patellar applasia/hypoplasia, and a proportionate short stature. Associated clinical features encompass feeding problems, congenital pulmonary emphysema, mammary hypoplasia in females and urogenital anomalies, such as cryptorchidism and hypoplastic labia minora and majora. Typical facial characteristics during childhood comprise a small mouth with full lips and micro-...

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

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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.

Clinical features in patients with long-lasting macrophagic myofasciitis

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Muriel eRIGOLET; Jessie eAOUIZERATE; Jessie eAOUIZERATE; Maryline eCOUETTE; Nilusha eTHANGARAJAH; Nilusha eTHANGARAJAH; Mehdi eAOUN-SEBAITI; Romain Kroum GHERARDI; Romain Kroum GHERARDI; Romain Kroum GHERARDI; Josette eCADUSSEAU; Josette eCADUSSEAU; Francois Jerome eAUTHIER; Francois Jerome eAUTHIER; Francois Jerome eAUTHIER

2014-01-01

Macrophagic myofasciitis (MMF) is an emerging condition characterized by specific muscle lesions assessing abnormal long-term persistence of aluminium hydroxide within macrophages at the site of previous immunization. Affected patients usually are middle-aged adults, mainly presenting with diffuse arthromyalgias, chronic fatigue, and marked cognitive deficits, not related to pain, fatigue or depression. Clinical features usually correspond to that observed in chronic fatigue syndrome/myalgic ...

Clinical Features in Patients with Long-Lasting Macrophagic Myofasciitis

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Rigolet, Muriel; Aouizerate, Jessie; Couette, Maryline; Ragunathan-Thangarajah, Nilusha; Aoun-Sebaiti, Mehdi; Gherardi, Romain Kroum; Cadusseau, Josette; Authier, François Jérôme

2014-01-01

Macrophagic myofasciitis (MMF) is an emerging condition characterized by specific muscle lesions assessing abnormal long-term persistence of aluminum hydroxide within macrophages at the site of previous immunization. Affected patients usually are middle-aged adults, mainly presenting with diffuse arthromyalgias, chronic fatigue, and marked cognitive deficits, not related to pain, fatigue, or depression. Clinical features usually correspond to that observed in chronic fatigue syndrome/myalgic ...

Neuroleptic malignant syndrome: A review of the clinical/diagnostic features and report of a case without fever

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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.

Update on Clinical Features and Brain Abnormalities in Neurogenetics Syndromes

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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…

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

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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.

Early Onset Marfan Syndrome: Atypical Clinical Presentation of Two Cases

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Ozyurt Abdullah

2015-06-01

Full Text Available Early onset Marfan Syndrome (eoMFS is a rare, severe form of Marfan Syndrome (MFS. The disease has a poor prognosis and most patients present with resistance to heart failure treatment during the newborn period. This report presents two cases of eoMFS with similar clinical features diagnosed in the newborn period and who died at an early age due to the complications related to the involvement of the cardiovascular system.

Roentgenologic features of the Meckel syndrome

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Seppaenen, U.; Herva, R.

1983-09-21

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

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

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

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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.)

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

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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…

[Clinical study of 12 cases with obstetric mirror syndrome].

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Wu, Lin-lin; Wang, Chen-hong; Li, Zhi-quan

2012-03-01

To discuss the clinical features, management, pregnancy outcome and prognosis of obstetric mirror syndrome. The clinical data of 12 cases with obstetric mirror syndrome at Shenzhen Maternity and Child Healthcare Hospital from April 2008 to December 2010 were collected to retrospectively analyze the clinical features, management, pregnancy outcome and prognosis. (1) ETIOLOGY: 12 cases with obstetric mirror syndrome included 9 cases of Bart's hydrops fetalis, 2 cases with fetal complicated congenital cardiac anomalies, and 1 case of unknown etiology. (2) Gestational age at diagnosis and at delivery: gestational age at diagnosis ranged from 28 to 36 weeks [mean (31.5 ± 4.7) weeks], and gestational age at delivery ranged from 28(+3) to 38 weeks [mean (32.9 ± 2.9) weeks]. There were no significant differences between the gestational age at diagnosis and at delivery in consistence with severe preeclampsia group and mild preeclampsia group [(31.8 ± 2.3) weeks vs. (30.9 ± 7.2) weeks, (32.5 ± 2.3) weeks vs. (33.5 ± 3.9) weeks, P > 0.05]. (3) The patients with obstetric mirror syndrome can present a preeclampsia-like syndrome: maternal extremity edema in 12 cases, headache and visual disturbance in 1 case, proteinuria in 11 cases, elevated blood pressure in 5 cases, elevated uric acid in 9 cases, hypoproteinemia in 12 cases, elevated creatinine in 3 case, elevated liver enzyme in 1 case, thrombocytopenia in 2 cases. The major complications included 1 case of HELLP syndrome, acute pulmonary edema, placental abruption, amnionic fluid embolism, DIC respectively, 3 cases of acute kidney failure and 6 cases of postpartum hemorrhage. (4) Sonographic findings: 1) Hydrops fetalis: fetal ultrasound revealed pleural fluid, fetal ascites, skin edema, scalp edema, encephalocolele enlargement, hydropericardium and increased cardio-chest ratio. 2) Placenta megaly: the placental pathological examination revealed edematous and large in 12 cases. Placental thickness was beyond 4 cm in

Clinical features and management of non-HIV related lipodystrophy in children: A systematic review

Science.gov (United States)

Lipodystrophy syndromes are characterized by generalized or partial absence of adipose tissue. We conducted a systematic review to synthesize data on clinical and metabolic features of lipodystrophy (age at onset, Scopus and Non-Indexe...

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.)

Mosaicism for maternal uniparental disomy 15 in a boy with some clinical features of Prader-Willi syndrome.

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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.

Epidemiological and clinical characteristics of Reiter's syndrome in Jordanian patients

International Nuclear Information System (INIS)

Al-Mrayat, Z.; Abdallat, S.; Marabha, T.

2004-01-01

Objective: To study the epidemiological and clinical features of Reiter's syndrome in patients who visited the rheumatology clinic in King Hussein Medical Centre (KHMC), Jordan. Methods: A prospective study, including 43 patients with the diagnosis of Reiter's syndrome was done. Patients were assessed by taking complete history, physical examination and appropriate investigations including urinalysis and culture, stool examination and culture, synovial fluid analysis, complement fixation test for Chlamydia trachomatis, complete blood count, erythrocyte sedimentation rate, rheumatoid factor, antinuclear antibodies. HLA-B27 and radiological study. Results: All patients in this study were white men, with mean age of 26.3 years. HLA-B27 was positive in 37 patients (86%). Most cases were post venereal (32 patients, 74%) while the rest were dysenteric. The clinical manifestations were arthritis in all patients (100%), urethritis in 21 patients (48%), ocular involvement in 20 patients (46%), diarrhea in 12 patients (28%), painless oral ulcers in 11 patients (26%), skin lesions in 5 patients (12%) and constitutional symptoms in 7 patients (16%). Arthritis was mostly oligoarticular (25 patients, 58%) with asymmetrical pattern in 34 patients (78%). Large joints of lower extremity were most involved (29 patients, 68%). Rheumatoid factor and antinuclear antibodies were negative in all patients. Relapses occurred in 7 patients (16%) after a mean period of 6.2 months. Conclusion: It is concluded that the epidemiological and clinical features of Reiter's syndrome in Jordan are not different from those in the literature. (author)

Features of Turner syndrome among a group of Cameroonian patients.

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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.

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…

Eosinophilic leukocytoclastic vasculitis - a spectrum ranging from Wells' syndrome to Churg-Strauss syndrome?

Science.gov (United States)

Ratzinger, Gudrun; Zankl, Julia; Eisendle, Klaus; Zelger, Bernhard

2014-01-01

Wells' syndrome is defined as an inflammatory disorder with the histopathological presence of eosinophilic infiltrates and flame figures in the absence of vasculitis. Eosinophilic leukocytoclastic vasculitis shows eosinophilic infiltrates in combination with vasculitic changes. And Churg Strauss Syndrome comprises all three characteristics - eosinophilic infiltrates, vasculitis and flame figures. To determine whether these three diseases are distinct entities or different manifestations of a similar clinicopathologic process. Histopathological samples and clinical courses of 17 patients with eosinophilic infiltrates, flame figures and clinical features of Wells' syndrome were re-evaluated. Histopathologically, we focused on the presence or absence of vasculitic features. Clinically, we included only patients who were diagnosed with Wells' syndrome at least once in the course of their disease. 4 patients were finally diagnosed with Wells' syndrome, 5 with eosinophilic leukocytoclastic vasculitis and 6 with Churg Strauss syndrome. Further, we had one case of an overlap between Wells' syndrome and eosinophilic vasculitis and one case of Wegener granulomatosis. Vasculitic features were found in the samples of all patients. Histologically, we find vasculitic features in typical presentations of Wells' syndrome. Clinically, we find typical features of Wells' syndrome in patients finally diagnosed with eosinophilic leukocytoclastic vasculitis or Churg Strauss syndrome. Furthermore, we have observed and formerly reported 3 patients with progression from Wells' syndrome to Churg Strauss syndrome. Thus, we assume that eosinophilic leukocytoclastic vasculitis might form a bridge between Wells' syndrome and Churg Strauss syndrome.

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.

Utility of MLH1 methylation analysis in the clinical evaluation of Lynch Syndrome in women with endometrial cancer.

Science.gov (United States)

Bruegl, Amanda S; Djordjevic, Bojana; Urbauer, Diana L; Westin, Shannon N; Soliman, Pamela T; Lu, Karen H; Luthra, Rajyalakshmi; Broaddus, Russell R

2014-01-01

Clinical screening criteria, such as young age of endometrial cancer diagnosis and family history of signature cancers, have traditionally been used to identify women with Lynch Syndrome, which is caused by mutation of a DNA mismatch repair gene. Immunohistochemistry and microsatellite instability analysis have evolved as important screening tools to evaluate endometrial cancer patients for Lynch Syndrome. A complicating factor is that 15-20% of sporadic endometrial cancers have immunohistochemical loss of the DNA mismatch repair protein MLH1 and high levels of microsatellite instability due to methylation of MLH1. The PCR-based MLH1 methylation assay potentially resolves this issue, yet many clinical laboratories do not perform this assay. The objective of this study was to determine if clinical and pathologic features help to distinguish sporadic endometrial carcinomas with MLH1 loss secondary to MLH1 methylation from Lynch Syndrome-associated endometrial carcinomas with MLH1 loss and absence of MLH1 methylation. Of 337 endometrial carcinomas examined, 54 had immunohistochemical loss of MLH1. 40/54 had MLH1 methylation and were designated as sporadic, while 14/54 lacked MLH1 methylation and were designated as Lynch Syndrome. Diabetes and deep myometrial invasion were associated with Lynch Syndrome; no other clinical or pathological variable distinguished the 2 groups. Combining Society of Gynecologic Oncology screening criteria with these 2 features accurately captured all Lynch Syndrome cases, but with low specificity. In summary, no single clinical/pathologic feature or screening criteria tool accurately identified all Lynch Syndrome-associated endometrial carcinomas, highlighting the importance of the MLH1 methylation assay in the clinical evaluation of these patients.

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

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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.

Clinical features of movement disorders.

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Yung, C Y

1983-08-01

The descriptive aspects of all types of movement disorders and their related syndromes and terminologies used in the literature are reviewed and described. This comprises the features of (a) movement disorders secondary to neurological diseases affecting the extrapyramidal motor system, such as: athetosis, chorea, dystonia, hemiballismus, myoclonus, tremor, tics and spasm, (b) drug induced movement disorders, such as: akathisia, akinesia, hyperkinesia, dyskinesias, extrapyramidal syndrome, and tardive dyskinesia, and (c) abnormal movements in psychiatric disorders, such as: mannerism, stereotyped behaviour and psychomotor retardation. It is intended to bring about a more comprehensive overview of these movement disorders from a phenomenological perspective, so that clinicians can familiarize with these features for diagnosis. Some general statements are made in regard to some of the characteristics of movement disorders.

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

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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.

Clinical characteristics of polycystic ovary syndrome in Indian women

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Sunita J Ramanand

2013-01-01

Full Text Available Background: Polycystic ovary syndrome (PCOS is common diagnosis in women presenting with infertility. All the dimensions of PCOS have not been completely explored. Many studies have tried to characterize the exact presentation of the disease. In this study we studied clinical features of PCOS in Indian women to characterize different phenotypes of this syndrome. Prevalence of acanthosis nigricans (AN as surrogate marker of insulin resistance, obesity, hirsutism and hypothyroidism in PCOS women have been simultaneously studied. Materials and Methods: Present work is a non comparative cross-sectional open label study carried out over a period of 18 months in an endocrinology hospital in western Maharashtra, India. Results and Conclusion: Authors conclude that PCOS occurs both in obese and non-obese women; AN and hirsutism occur in equal proportion of patients. AN is correlated with obesity. Hormonal dysfunctions in PCOS manifested together or independently. PCOS women can be sub grouped based on clinical features suggestive of endocrinological malfunctions and can be investigated accordingly for selection of appropriate treatment modalities.

Dystonia in complex regional pain syndrome : clinical, pathophysiological and therapeutic aspects

NARCIS (Netherlands)

Rijn, Monica Adriana van

2010-01-01

The clinical characteristics of Complex Regional Pain Syndrome (CRPS) are defined by pain and various combinations of sensory disturbances, autonomic features, and sudomotor and trophic changes. Furthermore, patients with CRPS may suffer from movement disorders, of which dystonia is the most

Goldenhar syndrome with unusual features

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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.

Clinical characteristics of two probable cases of Angelman syndrome in the Hospital Nacional de Ninos

International Nuclear Information System (INIS)

Midence-Cerda, Marvin; Brian-Gago, Roberto

2004-01-01

Angelman Syndrome is a severe neurological disorder. No other case has been reported in our country until now. There are two children reported with the clinical suspicion of Angelman Syndrome. They were treated at the Departamento de Neurologia del Hospital Nacional de Ninos. The information was taken from their medical records. The two patients present the four cardinal clinical features, including severe developmental delay, profound speech impairment, ataxia and a happy, sociable disposition. In addition, the patients displayed other characteristics: seizures associated with a typical spike and slow wave activity on EEG an love for water. The clinical diagnosis is difficult because other disorders can mimic the features of Angelman Syndrome. Nonetheless, at an early age, the behavioral phenotype of happy disposition and hyperexcitability is the most important manifestation and appears to be decisive in the differential diagnosis of patients with psychomotor and language delay. (author) [es

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

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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.

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

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

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.

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.

Autosomal dominant syndrome resembling Coffin-Siris syndrome.

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Flynn, Maureen A; Milunsky, Jeff M

2006-06-15

Coffin-Siris syndrome is a multiple congenital anomaly/mental retardation syndrome with phenotypic variability [OMIM 135900]. The diagnosis is based solely on clinical findings, as there is currently no molecular, biochemical, or cytogenetic analysis available to confirm a diagnosis. Although typically described as an autosomal recessive disorder, autosomal dominant inheritance has also been infrequently reported. We describe a mother and her two daughters who all have features that resemble Coffin-Siris syndrome. However, this is not a completely convincing diagnosis given that hypertelorism is not a feature of Coffin-Siris syndrome and the family is relatively mildly affected. Yet, this family provides further evidence of an autosomal dominant mode of inheritance for a likely variant of Coffin-Siris syndrome (at least in some families). In addition, Sibling 1 had premature thelarche. She is the second reported individual within the spectrum of Coffin-Siris syndrome to have premature thelarche, indicating that it may be a rare clinical feature. Copyright 2006 Wiley-Liss, Inc.

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

[Clinical characteristics of Rett Syndrome].

Science.gov (United States)

Abbes, Zeineb; Bouden, Asma; Halayem, Soumaya; Othman, Sami; Bechir Halayem, Mohamed

2011-10-01

Rett Syndrome is a neurodevelopmental disorder, one of the least commonly occurring autism spectrum disorders (ASD),affecting mainly females. To describe features and molecular specificities of Rett syndrome. To identify articles for this review, a Pubmed search was conducted using the following keywords: Rett syndrome, regression,mutation, stereotypes. This syndrome is characterized by cognitive impairment,communication dysfunction, stereotypic movement disorder, and growth failure. It is generally caused by mutations in the MECP2 gene. Rett Syndrome has a prevalence ranging from 10-20 000 females. Specific treatment is not available, but patients need a careful planning for long-term care, with multidisciplinary approaches.

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...

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.

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.

Clinical predictors of lacunar syndrome not due to lacunar infarction

Directory of Open Access Journals (Sweden)

Comes Emili

2010-05-01

Full Text Available Background Lacunar syndrome not due to lacunar infarct is poorly characterised. This single centre, retrospective study was conducted to describe the clinical characteristics of patients with lacunar syndrome not due to lacunar infarct and to identify clinical predictors of this variant of lacunar stroke. Methods A total of 146 patients with lacunar syndrome not due to lacunar infarction were included in the "Sagrat Cor Hospital of Barcelona Stroke Registry" during a period of 19 years (1986-2004. Data from stroke patients are entered in the stroke registry following a standardized protocol with 161 items regarding demographics, risk factors, clinical features, laboratory and neuroimaging data, complications and outcome. The characteristics of these 146 patients with lacunar syndrome not due to lacunar infarct were compared with those of the 733 patients with lacunar infarction. Results Lacunar syndrome not due to lacunar infarct accounted for 16.6% (146/879 of all cases of lacunar stroke. Subtypes of lacunar syndromes included pure motor stroke in 63 patients, sensorimotor stroke in 51, pure sensory stroke in 14, atypical lacunar syndrome in 9, ataxic hemiparesis in 5 and dysarthria-clumsy hand in 4. Valvular heart disease, atrial fibrillation, sudden onset, limb weakness and sensory symptoms were significantly more frequent among patients with lacunar syndrome not due to lacunar infarct than in those with lacunar infarction, whereas diabetes was less frequent. In the multivariate analysis, atrial fibrillation (OR = 4.62, sensorimotor stroke (OR = 4.05, limb weakness (OR = 2.09, sudden onset (OR = 2.06 and age (OR = 0.96 were independent predictors of lacunar syndrome not due to lacunar infarct. Conclusions Although lacunar syndromes are highly suggestive of small deep cerebral infarctions, lacunar syndromes not due to lacunar infarcts are found in 16.6% of cases. The presence of sensorimotor stroke, limb weakness and sudden onset in a patient

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

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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.

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

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

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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.

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

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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.

[The specific microbiological and clinical features of acute otitis media].

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Gurov, A V; Levina, Yu V; Guseva, A L; Elchueva, Z G; Efimova, S P; Gordienko, M V

The objective of the present study was to elucidate the specific features of the clinical course of acute otitis media as well as the peculiarities of the vestibular function and the microbial paysage associated with this pathological condition under the present-day conditions. The study included 135 patients presenting with acute otitis media (AOM) at different stages of the disease. The discharge obtained from the tympanic cavity of all the patients was examined with the use of polymerase chain reaction in real time, audiological and vestibulogical methods. The distinctive features of acute otitis medium associated with Streptococcus pneumoniae infection were found to be the intense pain syndrome with the symptoms of intoxication, well apparent inflammatory changes in the tympanic membrane as revealed by otoscopy, the increased frequency of sensorineural impairment of hearing, and the characteristic type B tympanometric curve. Typical of AOM associated with Haemophilus influenza infection are the mild pain syndrome, weak changes in the tympanic membrane as revealed by otoscopy, conductive hearing loss, and the type C tympanometric curve.

Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome

NARCIS (Netherlands)

Narumi, Yoko; Aoki, Yoko; Niihori, Tetsuya; Neri, Giovanni; Cave, Helene; Verloes, Alain; Nava, Caroline; Kavamura, Maria Ines; Okamoto, Nobuhiko; Kurosawa, Kenji; Hennekam, Raoul C. M.; Wilson, Louise C.; Gillessen-Kaesbach, Gabriele; Wieczorek, Dagmar; Lapunzina, Pablo; Ohashi, Hirofumi; Makita, Yoshio; Kondo, Ikuko; Tsuchiya, Shigeru; Ito, Etsuro; Sameshima, Kiyoko; Kato, Kumi; Kure, Shigeo; Matsubara, Yokhi

2007-01-01

Cardio-facio-cutaneous (CFC) syndrome is a multiple congenital anomaly/mental retardation syndrome characterized by heart defects, a distinctive facial appearance, ectodermal abnormalities and mental retardation. Clinically, it overlaps with both Noonan syndrome and Costello syndrome, which are

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

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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.

Neuromyelitis optica: clinical features, immunopathogenesis and treatment

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Jarius, S; Wildemann, B; Paul, F

2014-01-01

The term ‘neuromyelitis optica’ (‘Devic's syndrome’, NMO) refers to a syndrome characterized by optic neuritis and myelitis. In recent years, the condition has raised enormous interest among scientists and clinical neurologists, fuelled by the detection of a specific serum immunoglobulin (Ig)G reactivity (NMO-IgG) in up to 80% of patients with NMO. These autoantibodies were later shown to target aquaporin-4 (AQP4), the most abundant water channel in the central nervous system (CNS). Here we give an up-to-date overview of the clinical and paraclinical features, immunopathogenesis and treatment of NMO. We discuss the widening clinical spectrum of AQP4-related autoimmunity, the role of magnetic resonance imaging (MRI) and new diagnostic means such as optical coherence tomography in the diagnosis of NMO, the role of NMO-IgG, T cells and granulocytes in the pathophysiology of NMO, and outline prospects for new and emerging therapies for this rare, but often devastating condition. Other Articles published in this series Paraneoplastic neurological syndromes. Clinical and Experimental Immunology 2014, 175: 336–48. Disease-modifying therapy in multiple sclerosis and chronic inflammatory demyelinating polyradiculoneuropathy: common and divergent current and future strategies. Clinical and Experimental Immunology 2014, 175: 359–72. Monoclonal antibodies in treatment of multiple sclerosis. Clinical and Experimental Immunology 2014, 175: 373–84. CLIPPERS: chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids. Review of an increasingly recognized entity within the spectrum of inflammatory central nervous system disorders. Clinical and Experimental Immunology 2014, 175: 385–96. Requirement for safety monitoring for approved multiple sclerosis therapies: an overview. Clinical and Experimental Immunology 2014, 175: 397–407. Myasthenia gravis: an update for the clinician. Clinical and Experimental Immunology 2014, 175: 408�

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

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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.

'Refeeding syndrome' in a Kuwaiti child: clinical diagnosis and management.

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Al Sharkawy, Ibrahim; Ramadan, Dina; El-Tantawy, Amira

2010-01-01

To report a case of refeeding syndrome in a Kuwaiti child, its clinical presentation and management. A 13-month-old Kuwaiti boy presented with acute severe malnutrition in the form of marasmic kwashiorkor. On admission, blood sugar and serum electrolytes were normal but on the 3rd day he developed typical biochemical features of refeeding syndrome in the form of hyperglycemia, severe hypophosphatemia, hypokalemia, hypocalcemia and hypomagnesemia. The child then received treatment appropriate for refeeding syndrome in the form of lower calorie intake with gradual increase, as well as supplementation of electrolytes, thiamine and vitamins and he eventually made a safe recovery. This case showed that during rehabilitation of a malnourished child, a severe potentially lethal electrolyte disturbance (refeeding syndrome) can occur. Careful monitoring of electrolytes before and during the refeeding phase was needed and helped to detect this syndrome early. We suggest that slow and gradual calorie increase in the 'at-risk' patient can help prevent its occurrence. Copyright (c) 2010 S. Karger AG, Basel.

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

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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.

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

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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.

Hereditary Nonpolyposis Colorectal Cancer and Cancer Syndromes: Recent Basic and Clinical Discoveries

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Erbao Chen

2018-01-01

Full Text Available Approximately one-third of individuals diagnosed with colorectal cancer have a family history of cancer, suggesting that CRCs may result from a heritable component. Despite the availability of current gene-identification techniques, only 5% of all CRCs emerge from well-identifiable inherited causes for predisposition, including polyposis and nonpolyposis syndromes. Hereditary nonpolyposis colorectal cancer represents a large proportion of cases, and robustly affected patients are at increased risk for early onset, synchronous, and metachronous colorectal malignancies and extracolonic malignancies. HNPCC encompasses several cancer syndromes, such as Lynch syndrome, Lynch-like syndrome, and familial colorectal cancer type X, which have remarkable clinical presentations and overlapping genetic profiles that make clinical diagnosis a challenging task. Therefore, distinguishing between the HNPCC disorders is crucial for physicians as an approach to tailor different recommendations for patients and their at-risk family members according to the risks for colonic and extracolonic cancer associated with each syndrome. Identification of these potential patients through epidemiological characteristics and new genetic testing can estimate the individual risk, which informs appropriate cancer screening, surveillance, and/or treatment strategies. In the past three years, many appealing and important advances have been made in our understanding of the relationship between HNPCC and CRC-associated syndromes. The knowledge from the genetic profile of cancer syndromes and unique genotype-phenotype profiles in the different syndromes has changed our cognition. Therefore, this review presents and discusses HNPCC and several common nonpolyposis syndromes with respect to molecular phenotype, histopathologic features, and clinical presentation.

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

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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.

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)

Metabolic syndrome: frequency and gender differences at an out-patient clinic

International Nuclear Information System (INIS)

Jahan, F.; Qureshi, R.; Borhany, T.; Hamza, H.B.

2007-01-01

To determine the frequency of metabolic syndrome among patients attending an out-patient clinic of a teaching hospital and to compare the clinical features regarding metabolic syndrome among males and females. All adults, above 25 years, attending the clinics for an executive check-up and giving informed consent were included in the study. Data was collected through a structured questionnaire administered to those eligible to participate. Metabolic syndrome was defined according to ATP-III guidelines. There were 250 participants in this study. Mean age of study participants was 48.94 (SD10.62) years, while approximately two-thirds, 157 (62.8%), were male. Metabolic syndrome (those who had 3 or more risk factors) was present in 35.2% of adults. Fasting blood sugar level was raised in 36.4% of study participants while significant number of participants (78.8%) had a Body Mass Index (BMI) Z 25 (p = 0.02). Frequency of metabolic syndrome was significantly high in this study with preponderance of males and prevalence similar to that observed in developed countries. Majority of patients had obesity and high fasting blood sugar levels. Males demonstrated higher levels of triglycerides and low levels of High-density lipoprotein (HDL) compared to females while blood pressure reading was observed to be the same in both males and females. (author)

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...

Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo-Bartter/Gitelman syndrome based on clinical characteristics.

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Matsunoshita, Natsuki; Nozu, Kandai; Shono, Akemi; Nozu, Yoshimi; Fu, Xue Jun; Morisada, Naoya; Kamiyoshi, Naohiro; Ohtsubo, Hiromi; Ninchoji, Takeshi; Minamikawa, Shogo; Yamamura, Tomohiko; Nakanishi, Koichi; Yoshikawa, Norishige; Shima, Yuko; Kaito, Hiroshi; Iijima, Kazumoto

2016-02-01

Phenotypic overlap exists among type III Bartter syndrome (BS), Gitelman syndrome (GS), and pseudo-BS/GS (p-BS/GS), which are clinically difficult to distinguish. We aimed to clarify the differences between these diseases, allowing accurate diagnosis based on their clinical features. A total of 163 patients with genetically defined type III BS (n = 30), GS (n = 90), and p-BS/GS (n = 43) were included. Age at diagnosis, sex, body mass index, estimated glomerular filtration rate, and serum and urine electrolyte concentrations were determined. Patients with p-BS/GS were significantly older at diagnosis than those with type III BS and GS. Patients with p-BS/GS included a significantly higher percentage of women and had a lower body mass index and estimated glomerular filtration rate than did patients with GS. Although hypomagnesemia and hypocalciuria were predominant biochemical findings in patients with GS, 17 and 23% of patients with type III BS and p-BS/GS, respectively, also showed these abnormalities. Of patients with type III BS, GS, and p-BS/GS, 40, 12, and 63%, respectively, presented with chronic kidney disease. This study clarified the clinical differences between BS, GS, and p-BS/GS for the first time, which will help clinicians establish differential diagnoses for these three conditions.

Sonographic features of lethal multiple pterygium syndrome at 14 weeks.

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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.

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

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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

Nakalanga Syndrome: Clinical Characteristics, Potential Causes, and Its Relationship with Recently Described Nodding Syndrome.

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Kathrin Föger

2017-02-01

Full Text Available Nakalanga syndrome is a condition that was described in Uganda and various other African countries decades ago. Its features include growth retardation, physical deformities, endocrine dysfunction, mental impairment, and epilepsy, amongst others. Its cause remains obscure. Nodding syndrome is a neurological disorder with some features in common with Nakalanga syndrome, which has been described mainly in Uganda, South Sudan, and Tanzania. It has been considered an encephalopathy affecting children who, besides head nodding attacks, can also present with stunted growth, delayed puberty, and mental impairment, amongst other symptoms. Despite active research over the last years on the pathogenesis of Nodding syndrome, to date, no convincing single cause of Nodding syndrome has been reported. In this review, by means of a thorough literature search, we compare features of both disorders. We conclude that Nakalanga and Nodding syndromes are closely related and may represent the same condition. Our findings may provide new directions in research on the cause underlying this neurological disorder.

Widening the clinical spectrum of Pitt-Rogers-Danks/Wolf-Hirschhorn syndromes

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Juliana F. Mazzeu

2007-03-01

Full Text Available Chromosomal rearrangements involving partial deletion of the short arm of chromosome 4 and partial duplication of the short arm of chromosome 8 have been described both in Pitt-Rogers-Danks syndrome (PRDS and Wolf-Hirschhorn syndrome (WHS, the former being considered a milder phenotype of the latter. We describe a patient with partial deletion of chromosome 4 and partial duplication of chromosome 8 documented by array-comparative genomic hybridization (Array-CGH. In addition to the typical features of PRDS, the patient exhibited some clinical signs (genital hypoplasia, radioulnar synostosis and mesomelic limb shortness infrequently, or never previously, reported in PRDS. These findings broaden the spectrum of anomalies generally associated with these syndromes.

A Case of Gorlin-Goltz Syndrome Presented with Psychiatric Features

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Amir Mufaddel

2014-01-01

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

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

Clinical variability of Waardenburg-Shah syndrome in patients with proximal 13q deletion syndrome including the endothelin-B receptor locus.

Science.gov (United States)

Tüysüz, Beyhan; Collin, Anna; Arapoğlu, Müjde; Suyugül, Nezir

2009-10-01

Waardenburg-Shah syndrome (Waardenburg syndrome type IV-WS4) is an auditory-pigmentary disorder that combines clinical features of pigmentary abnormalities of the skin, hair and irides, sensorineural hearing loss, and Hirschsprung disease (HSCR). Mutations in the endothelin-B receptor (EDNRB) gene on 13q22 have been found to cause this syndrome. Mutations in both alleles cause the full phenotype, while heterozygous mutations cause isolated HSCR or HSCR with minor pigmentary anomalies and/or sensorineural deafness. We investigated the status of the EDNRB gene, by FISH analysis, in three patients with de novo proximal 13q deletions detected at cytogenetic analysis and examined the clinical variability of WS4 among these patients. Chromosome 13q was screened with locus specific FISH probes and breakpoints were determined at 13q22.1q31.3 in Patients 1 and 3, and at 13q21.1q31.3 in Patient 2. An EDNRB specific FISH probe was deleted in all three patients. All patients had common facial features seen in proximal 13q deletion syndrome and mild mental retardation. However, findings related to WS4 were variable; Patient 1 had hypopigmentation of the irides and HSCR, Patient 2 had prominent bicolored irides and mild bilateral hearing loss, and Patient 3 had only mild unilateral hearing loss. These data contribute new insights into the pathogenesis of WS4.

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.

[Clinical manifestation and cytogenetic analysis of 607 patients with Turner syndrome].

Science.gov (United States)

Zheng, Jiemei; Liu, Zhiying; Xia, Pei; Lai, Yi; Wei, Yangjun; Liu, Yanyan; Chen, Jiurong; Qin, Li; Xie, Liangyu; Wang, He

2017-02-10

To explore the correlation between cytogenetic findings and clinical manifestations of Turner syndrome. 607 cases of cytogenetically diagnosed Turner syndrome, including those with a major manifestation of Turner syndrome, were analyzed with conventional G-banding. Correlation between the karyotypes and clinical features were analyzed. Among the 607 cases, there were 154 cases with monosomy X (25.37%). Mosaicism monosomy X was found in 240 patients (39.54%), which included 194 (80.83%) with a low proportion of 45,X (3 ≤ the number of 45, X ≤5, while the normal cells ≥ 30). Structural X chromosome abnormalities were found in 173 patients (28.50%). A supernumerary marker chromosome was found in 40 cases (6.59%). Most patients with typical manifestations of Turner syndrome were under 11 years of age and whose karyotypes were mainly 45,X. The karyotype of patients between 11 and 18 years old was mainly 45,X, 46,X,i(X)(q10) and mos45,X/46,X,i(X)(q10), which all had primary amenorrhea in addition to the typical clinical manifestations. The karyotype of patients over 18 years of age were mainly mosaicism with a low proportion of 45,X, whom all had primary infertility. 53 patients had a history of pregnancy, which included 48 with non-structural abnormalities of X chromosome and 5 with abnormal structure of X chromosome. Generally, the higher proportion of cells with an abnormal karyotype, the more severe were the clinical symptoms and the earlier clinical recognition. Karyotyping analysis can provide guidance for the early diagnosis of Turner syndrome, especially those with a low proportion of 45,X.

Clinical features of Friedreich's ataxia: classical and atypical phenotypes.

Science.gov (United States)

Parkinson, Michael H; Boesch, Sylvia; Nachbauer, Wolfgang; Mariotti, Caterina; Giunti, Paola

2013-08-01

One hundred and fifty years since Nikolaus Friedreich's first description of the degenerative ataxic syndrome which bears his name, his description remains at the core of the classical clinical phenotype of gait and limb ataxia, poor balance and coordination, leg weakness, sensory loss, areflexia, impaired walking, dysarthria, dysphagia, eye movement abnormalities, scoliosis, foot deformities, cardiomyopathy and diabetes. Onset is typically around puberty with slow progression and shortened life-span often related to cardiac complications. Inheritance is autosomal recessive with the vast majority of cases showing an unstable intronic GAA expansion in both alleles of the frataxin gene on chromosome 9q13. A small number of cases are caused by a compound heterozygous expansion with a point mutation or deletion. Understanding of the underlying molecular biology has enabled identification of atypical phenotypes with late onset, or atypical features such as retained reflexes. Late-onset cases tend to have slower progression and are associated with smaller GAA expansions. Early-onset cases tend to have more rapid progression and a higher frequency of non-neurological features such as diabetes, cardiomyopathy, scoliosis and pes cavus. Compound heterozygotes, including those with large deletions, often have atypical features. In this paper, we review the classical and atypical clinical phenotypes of Friedreich's ataxia. © 2013 International Society for Neurochemistry.

Noonan syndrome - a new survey.

Science.gov (United States)

Tafazoli, Alireza; Eshraghi, Peyman; Koleti, Zahra Kamel; Abbaszadegan, Mohammadreza

2017-02-01

Noonan syndrome (NS) is an autosomal dominant disorder with vast heterogeneity in clinical and genetic features. Various symptoms have been reported for this abnormality such as short stature, unusual facial characteristics, congenital heart abnormalities, developmental complications, and an elevated tumor incidence rate. Noonan syndrome shares clinical features with other rare conditions, including LEOPARD syndrome, cardio-facio-cutaneous syndrome, Noonan-like syndrome with loose anagen hair, and Costello syndrome. Germline mutations in the RAS-MAPK (mitogen-activated protein kinase) signal transduction pathway are responsible for NS and other related disorders. Noonan syndrome diagnosis is primarily based on clinical features, but molecular testing should be performed to confirm it in patients. Due to the high number of genes associated with NS and other RASopathy disorders, next-generation sequencing is the best choice for diagnostic testing. Patients with NS also have higher risk for leukemia and specific solid tumors. Age-specific guidelines for the management of NS are available.

Uncovering Clinical Features of De Novo Philadelphia Positive Myelodysplasia.

Science.gov (United States)

Armas, Aristides; Chen, Chen; Mims, Martha; Rivero, Gustavo

2017-01-01

Myelodysplastic syndrome (MDS) is cytogenetically heterogeneous and retains variable risk for acute myeloid leukemia transformation. Though not yet fully understood, there is an association between genetic abnormalities and defects in gene expression. The functional role for infrequent cytogenetic alteration remains unclear. An uncommon chromosomic abnormality is the presence of the Philadelphia (Ph) chromosome. Here, we report a patient with Ph+ MDS treated with low dose Dasatinib who achieved hematologic response for 7 months. In addition, we also examined the English literature on all de novo Ph + MDS cases between 1996 and 2015 to gain insight into clinical features and outcome.

A Giant Heart Tumor in Neonate with Clinical Signs of Pierre - Robin Syndrome

Science.gov (United States)

Bejiqi, Ramush; Retkoceri, Ragip; Xhema-Bejiqi, Hana; Bejiqi, Rinor; Maloku, Arlinda

2017-01-01

Introduction: Pierre Robin syndrome is a congenital condition of facial abnormalities in humans. The three main features are: cleft palate, retrognathia and glossoptosis. Rarely heart tumors are associated with syndromes, mostly are isolated. Case report: In this presentation we describe a 3-weeks-old girl with Pierre-Robin syndrome and giant left ventricle tumor, diagnosed initially by transthoracic echocardiography. The purpose of this report is to review the literature on the fetuses and neonates with cardiac tumors in an attempt to determine the various ways which cardiac tumors differ clinically and morphologically in this age group. PMID:28790548

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...

Risk factors for treatment related clinical fluctuations in Guillain-Barré syndrome. Dutch Guillain-Barré study group

NARCIS (Netherlands)

L.H. Visser (Leendert); F.G.A. van der Meché (Frans); J. Meulstee (Jan); P.A. van Doorn (Pieter)

1998-01-01

textabstractThe risk factors for treatment related clinical fluctuations, relapses occurring after initial therapeutic induced stabilisation or improvement, were evaluated in a group of 172 patients with Guillain-Barre syndrome. Clinical, laboratory, and electrodiagnostic features

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

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)

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.

Autoimmune hepatitis: diagnostic criteria, subclassifications, and clinical features.

Science.gov (United States)

McFarlane, Ian G

2002-08-01

The diagnosis of AIH depends on the finding of several suggestive features together with careful exclusion of liver diseases of other etiologies. Wherever possible, the diagnosis should be confirmed histologically by an experienced hepatopathologist. Seronegativity for the conventional autoantibodies at presentation does not exclude a diagnosis of AIH. It is important to test for anti-LKM1 antibodies to avoid missing a diagnosis of type 2 AIH, with potentially serious consequences. Although the syndrome is associated with characteristic biochemical abnormalities, and biochemical parameters are commonly used for monitoring response to therapy, it should be borne in mind that neither these nor autoantibody titers are completely reliable indices of disease activity. Although the various systems that have been promulgated for classification of the disease may identify different groups of patients on pathogenetic or clinical criteria and are useful for research purposes, none is yet sufficiently exclusive in terms of defining prognosis or planning treatment strategies to be applicable to the individual patient seen in the clinic. Clinical management should therefore continue to be individually tailored.

Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients.

Science.gov (United States)

van Trier, Dorothée C; Vos, Anna M C; Draaijer, Renske W; van der Burgt, Ineke; Draaisma, Jos M Th; Cruysberg, Johannes R M

2016-10-01

To determine the full spectrum of ocular manifestations in patients with Noonan syndrome (NS). Prospective cross-sectional clinical and genetic study in a tertiary referral center. Twenty-five patients with NS (mean age, 14 years; range, 8 months-25 years) clinically diagnosed by validated criteria. All patients were examined by the same team following a detailed study protocol. Genetic analyses were performed in 23 patients. Ocular abnormalities of vision and refraction, external ocular features, ocular position and motility, anterior segment, posterior segment, and intraocular pressure. Ocular features of vision and refraction were amblyopia (32%), myopia (40%), and astigmatism (52%). External ocular features were epicanthic folds (84%), hypertelorism (68%), ptosis (56%), high upper eyelid crease (64%), lower eyelid retraction (60%), abnormal upward slanting palpebral fissures (36%), downward slanting palpebral fissures (32%), and lagophthalmos (28%). Orthoptic abnormalities included strabismus (40%), abnormal stereopsis (44%), and limited ocular motility (40%). Anterior segment abnormalities included prominent corneal nerves (72%) and posterior embryotoxon (32%). Additional ocular features were found, including nonglaucomatous optic disc excavation (20%), relatively low (Noonan syndrome is a clinical diagnosis with multiple genetic bases associated with an extensive variety of congenital ocular abnormalities. Ocular features of NS are characterized by 1 or more developmental anomalies of the eyelids (involving the position, opening, and closure) associated with various other ocular abnormalities in childhood, including amblyopia, myopia, astigmatism, strabismus, limited ocular motility, prominent corneal nerves, and posterior embryotoxon. Copyright © 2016 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.

The clinical syndrome of specific antibody deficiency in children.

Science.gov (United States)

Boyle, R J; Le, C; Balloch, A; Tang, M L-K

2006-12-01

Specific antibody deficiency (SAD) is an immune deficiency which has been reported in adults and children with recurrent respiratory tract infections; however, the clinical features of SAD are not well described. This study evaluated formally the clinical syndrome of SAD, by comparing the clinical features of children with SAD and those of children with recurrent infection but normal immune function tests. SAD was defined as an adequate IgG antibody response to less than 50% of 12 pneumococcal serotypes tested following 23-valent unconjugated pneumococcal immunization. An adequate IgG antibody response was defined as a post-immunization titre of >or= 1.3 microg/ml or >or= four times the preimmunization value. Seventy-four children with recurrent infection were evaluated where immune deficiencies other than SAD had been excluded. Eleven (14.9%) of these children had SAD. Clinical features differed between the group with SAD and the group with normal antibody responses. A history of otitis media, particularly in association with chronic otorrhoea was associated with SAD [relative risk (RR) of SAD in those with chronic otorrhoea 4.64 (P = 0.02)]. SAD was associated with allergic disease, particularly allergic rhinitis [RR of SAD in those with allergic rhinitis 3.77 (P = 0.04)]. These two clinical associations of SAD were independent in this study [RR of chronic otorrhoea in those with allergic rhinitis 0.85 (P = 0.28)]. SAD was not an age-related phenomenon in this population. SAD has a distinct clinical phenotype, presenting as recurrent infection associated with chronic otorrhoea and/or allergic disease, and the condition should be sought in children with these features.

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.

Noonan syndrome – a new survey

Science.gov (United States)

Tafazoli, Alireza; Eshraghi, Peyman; Koleti, Zahra Kamel

2016-01-01

Noonan syndrome (NS) is an autosomal dominant disorder with vast heterogeneity in clinical and genetic features. Various symptoms have been reported for this abnormality such as short stature, unusual facial characteristics, congenital heart abnormalities, developmental complications, and an elevated tumor incidence rate. Noonan syndrome shares clinical features with other rare conditions, including LEOPARD syndrome, cardio-facio-cutaneous syndrome, Noonan-like syndrome with loose anagen hair, and Costello syndrome. Germline mutations in the RAS-MAPK (mitogen-activated protein kinase) signal transduction pathway are responsible for NS and other related disorders. Noonan syndrome diagnosis is primarily based on clinical features, but molecular testing should be performed to confirm it in patients. Due to the high number of genes associated with NS and other RASopathy disorders, next-generation sequencing is the best choice for diagnostic testing. Patients with NS also have higher risk for leukemia and specific solid tumors. Age-specific guidelines for the management of NS are available. PMID:28144274

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.

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.

Lumbar dorsal ramus syndrome.

Science.gov (United States)

Bogduk, N

1980-11-15

Low back pain, referred pain in the lower limbs, and spasm of the back, gluteal, and hamstring muscles are clinical features which can be induced in normal volunteers by stimulating structures which are innervated by the lumbar dorsal rami. Conversely, they can be relieved in certain patients by selective interruption of conduction along dorsal rami. These facts permit the definition of a lumbar dorsal ramus syndrome, which can be distinguished from the intervertebral disc syndrome and other forms of low back pain. The distinguishing feature is that, in lumbar dorsal ramus syndrome, all the clinical features are exclusively mediated by dorsal rami and do not arise from nerve-root compression. The pathophysiology, pathology, and treatment of this syndrome are described. Recognition of this syndrome, and its treatment with relatively minor procedures, can obviate the need for major surgery which might otherwise be undertaken.

KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome

OpenAIRE

Moreno-Igoa, María; Hernández-Charro, Blanca; Bengoa-Alonso, Amaya; Pérez-Juana-del-Casal, Aranzazu; Romero-Ibarra, Carlos; Nieva-Echebarria, Beatriz; Ramos-Arroyo, María Antonia

2015-01-01

Background Chromosome 17q21.31 microdeletion syndrome is a multisystem genomic disorder caused by a recurrent 600-kb-long deletion, or haploinsufficiency of the chromatin modifier gene KANSL1, which maps to that region. Patients with KANSL1 intragenic mutations have been reported to display the major clinical features of 17q21.31 microdeletion syndrome. However, they did not exhibit the full clinical spectrum of this disorder, which might indicate that an additional gene or genes, located in ...

Waardenburg syndrome in four Mexican patients.

Science.gov (United States)

Aguilar Caso, Sandra I; Ortiz Nieva, Gabriela

2009-01-01

Waardenburg syndrome is a hereditary auditory-pigmentary syndrome. The major features include pigmentary disturbances and congenital deafness. Clinical findings are extremely variable, not only at the authors' institution but also in the literature. The authors describe four patients who presented with various clinical features and different genetic pedigree penetration.

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

Revisiting Cotard’s Syndrome: Illustration of Two Psychiatric Clinical Cases

Directory of Open Access Journals (Sweden)

Lídia Sousa

2016-07-01

Full Text Available Background: Cotard’s Syndrome (CS is a rare and severe neuropsychiatric condition in which the central feature is the existence of nihilistic delusions. Controversy has ensued about the precise clinical picture Jules Cotard meant to describe and attempts have been made, more recently, not only to clarify the terminology, but also to define different types of this syndrome and explore its biological basis. Aims: We intend to briefly review the terminology, etiology, epidemiology and differential diagnosis of this syndrome, based on two clinical cases. Methods: Bibliographic search conducted through the electronic databases Medline and Gallica (French National Library, consultation of clinical records and direct interviews with the patients. Results and Conclusions: Typically the patients diagnosed with CS manifest the delusional idea that they are dying or already dead. However, it is also possible that they deny the existence of only some parts of their own body, or the functioning of some organs, and they may even sometimes deny the existence of the external world. We illustrate the case of a 66-year-old woman, diagnosed with bipolar affective disorder, admitted in the context of a severe depressive episode with psychotic symptoms, compatible with CS type II and the case of a young male aged 22, admitted due to a first  psychotic episode with schizophrenia like characteristics, presenting with nihilistic delusions compatible with CS type I.

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.

Clinical characteristics of a novel subgroup of chronic fatigue syndrome patients with postural orthostatic tachycardia syndrome.

Science.gov (United States)

Lewis, I; Pairman, J; Spickett, G; Newton, J L

2013-05-01

A significant proportion of patients with chronic fatigue syndrome (CFS) also have postural orthostatic tachycardia syndrome (POTS). We aimed to characterize these patients and differentiate them from CFS patients without POTS in terms of clinical and autonomic features. A total of 179 patients with CFS (1994 Centers for Disease Control and Prevention criteria) attending one of the largest Department of Health-funded CFS clinical services were included in this study. Outcome measures were as follows: (i) symptom assessment tools including the fatigue impact scale, Chalder fatigue scale, Epworth sleepiness scale (ESS), orthostatic grading scale (OGS) and hospital anxiety and depression scale (HADS-A and -D, respectively), (ii) autonomic function analysis including heart rate variability and (iii) haemodynamic responses including left ventricular ejection time and systolic blood pressure drop upon standing. CFS patients with POTS (13%, n = 24) were younger (29 ± 12 vs. 42 ± 13 years, P fatigued (Chalder fatigue scale, 8 ± 4 vs. 10 ± 2, P = 0.002), less depressed (HADS-D, 6 ± 4 vs. 9 ± 4, P = 0.01) and had reduced daytime hypersomnolence (ESS, 7 ± 6 vs. 10 ± 5, P = 0.02), compared with patients without POTS. In addition, they exhibited greater orthostatic intolerance (OGS, 11 ± 5; P < 0.0001) and autonomic dysfunction. A combined clinical assessment tool of ESS ≤9 and OGS ≥9 identifies accurately CFS patients with POTS with 100% positive and negative predictive values. The presence of POTS marks a distinct clinical group of CFS patents, with phenotypic features differentiating them from those without POTS. A combination of validated clinical assessment tools can determine which CFS patients have POTS with a high degree of accuracy, and thus potentially identify those who require further investigation and consideration for therapy to control heart rate. © 2013 The Association for the Publication of the Journal of Internal Medicine.

Overlap of PIV syndrome, VACTERL and Pallister-Hall syndrome: clinical and molecular analysis.

Science.gov (United States)

Killoran, C E; Abbott, M; McKusick, V A; Biesecker, L G

2000-07-01

The polydactyly, imperforate anus, vertebral anomalies syndrome (PIV, OMIM 174100) was determined as a distinct syndrome by Say and Gerald in 1968 (Say B, Gerald PS. Lancet 1968: 2: 688). We noted that the features of PIV overlap with the VATER association and Pallister-Hall syndrome (PHS, OMIM 146510), which includes polydactyly, (central or postaxial), shortened fingers, hypoplastic nails, renal anomalies, imperforate anus, and hypothalamic hamartoma. Truncation mutations in GL13, a zinc finger transcription factor gene, have been shown to cause PHS. We performed a molecular evaluation on a patient diagnosed with PIV, whose mother, grandfather, and maternal aunt had similar malformations. We sequenced the GLI3 gene in the patient to determine if she had a mutation. The patient was found to have a deletion in nucleotides 2188-2207 causing a frameshift mutation that predicts a truncated protein product of the gene. Later clinical studies demonstrated that the patient also has a hypothalamic hamartoma, a finding in PHS. We concluded that this family had atypical PHS and not PIV. This result has prompted us to re-evaluate the PIV literature to see if PIV is a valid entity. Based on these data and our examination of the literature, we conclude that PIV is not a valid diagnostic entity. We conclude that patients diagnosed with PIV should be reclassified as having VACTERL, or PHS, or another syndrome with overlapping malformations.

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.)

Appreciating the broad clinical features of SMAD4 mutation carriers: a multi-center chart review

Science.gov (United States)

Wain, K.E.; Ellingson, M.S.; McDonald, J.; Gammon, A.; Roberts, M.; Pichurin, P.; Winship, I.; Riegert-Johnson, D.; Weitzel, J. N.; Lindor, N.M.

2014-01-01

Heterozygous loss-of-function (LOF) SMAD4 mutations are associated with juvenile polyposis syndrome (JP) and hereditary hemorrhagic telangiectasia (HHT). Some carriers exhibit symptoms of both conditions, leading to the name JP-HHT syndrome. Three families have been reported with connective tissue abnormalities. In order to better understand the spectrum and extent of clinical findings in SMAD4 carriers, medical records of 34 patients (20 families) from five clinical practices were reviewed. Twenty-one percent (7/34) had features suggesting a connective tissue defect: enlarged aortic root (n=3), aortic and mitral insufficiency (n=2), aortic dissection (n=1), retinal detachment (n=1), brain aneurysms (n=1), lax skin and joints (n=1). JP-specific findings were almost uniformly present but variable. Ninety-seven percent had colon polyps that were generally pan-colonic and of variable histology and number. Forty-eight percent (15/31) had extensive gastric polyposis. HHT features were documented in 76% including epistaxis (19/31, 61%), mucocutaneous telangiectases (15/31, 48%), liver arteriovenous malformation (AVM) (6/16, 38%), brain AVM (1/26, 4%), pulmonary AVM (9/17, 53%), and intrapulmonary shunting (14/23, 61%). SMAD4 carriers should be managed for JP and HHT, since symptoms of both are likely yet unpredictable. Connective tissue abnormalities are an emerging component of JP-HHT syndrome, and larger studies are needed to understand these manifestations. PMID:24525918

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

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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

Appreciating the broad clinical features of SMAD4 mutation carriers: a multicenter chart review.

Science.gov (United States)

Wain, Karen E; Ellingson, Marissa S; McDonald, Jamie; Gammon, Amanda; Roberts, Maegan; Pichurin, Pavel; Winship, Ingrid; Riegert-Johnson, Douglas L; Weitzel, Jeffrey N; Lindor, Noralane M

2014-08-01

Heterozygous loss-of-function SMAD4 mutations are associated with juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia. Some carriers exhibit symptoms of both conditions, leading to juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome. Three families have been reported with connective tissue abnormalities. To better understand the spectrum and extent of clinical findings in SMAD4 carriers, medical records of 34 patients (20 families) from five clinical practices were reviewed. Twenty-one percent of the patients (7/34) had features suggesting a connective tissue defect: enlarged aortic root (n = 3), aortic and mitral insufficiency (n = 2), aortic dissection (n = 1), retinal detachment (n = 1), brain aneurysms (n = 1), and lax skin and joints (n = 1). Juvenile polyposis-specific findings were almost uniformly present but variable. Ninety-seven percent of the patients had colon polyps that were generally pan-colonic and of variable histology and number. Forty-eight percent of the patients (15/31) had extensive gastric polyposis. Hereditary hemorrhagic telangiectasia features, including epistaxis (19/31, 61%), mucocutaneous telangiectases (15/31, 48%), liver arteriovenous malformation (6/16, 38%), brain arteriovenous malformation (1/26, 4%), pulmonary arteriovenous malformation (9/17, 53%), and intrapulmonary shunting (14/23, 61%), were documented in 76% of the patients. SMAD4 carriers should be managed for juvenile polyposis and hereditary hemorrhagic telangiectasia because symptoms of both conditions are likely yet unpredictable. Connective tissue abnormalities are an emerging component of juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome, and larger studies are needed to understand these manifestations.

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

Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes.

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Aref-Eshghi, Erfan; Rodenhiser, David I; Schenkel, Laila C; Lin, Hanxin; Skinner, Cindy; Ainsworth, Peter; Paré, Guillaume; Hood, Rebecca L; Bulman, Dennis E; Kernohan, Kristin D; Boycott, Kym M; Campeau, Philippe M; Schwartz, Charles; Sadikovic, Bekim

2018-01-04

Pediatric developmental syndromes present with systemic, complex, and often overlapping clinical features that are not infrequently a consequence of Mendelian inheritance of mutations in genes involved in DNA methylation, establishment of histone modifications, and chromatin remodeling (the "epigenetic machinery"). The mechanistic cross-talk between histone modification and DNA methylation suggests that these syndromes might be expected to display specific DNA methylation signatures that are a reflection of those primary errors associated with chromatin dysregulation. Given the interrelated functions of these chromatin regulatory proteins, we sought to identify DNA methylation epi-signatures that could provide syndrome-specific biomarkers to complement standard clinical diagnostics. In the present study, we examined peripheral blood samples from a large cohort of individuals encompassing 14 Mendelian disorders displaying mutations in the genes encoding proteins of the epigenetic machinery. We demonstrated that specific but partially overlapping DNA methylation signatures are associated with many of these conditions. The degree of overlap among these epi-signatures is minimal, further suggesting that, consistent with the initial event, the downstream changes are unique to every syndrome. In addition, by combining these epi-signatures, we have demonstrated that a machine learning tool can be built to concurrently screen for multiple syndromes with high sensitivity and specificity, and we highlight the utility of this tool in solving ambiguous case subjects presenting with variants of unknown significance, along with its ability to generate accurate predictions for subjects presenting with the overlapping clinical and molecular features associated with the disruption of the epigenetic machinery. Copyright © 2017 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

Sequence homology at the breakpoint and clinical phenotype of mitochondrial DNA deletion syndromes.

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Sadikovic, Bekim; Wang, Jing; El-Hattab, Ayman W; Landsverk, Megan; Douglas, Ganka; Brundage, Ellen K; Craigen, William J; Schmitt, Eric S; Wong, Lee-Jun C

2010-12-20

Mitochondrial DNA (mtDNA) deletions are a common cause of mitochondrial disorders. Large mtDNA deletions can lead to a broad spectrum of clinical features with different age of onset, ranging from mild mitochondrial myopathies (MM), progressive external ophthalmoplegia (PEO), and Kearns-Sayre syndrome (KSS), to severe Pearson syndrome. The aim of this study is to investigate the molecular signatures surrounding the deletion breakpoints and their association with the clinical phenotype and age at onset. MtDNA deletions in 67 patients were characterized using array comparative genomic hybridization (aCGH) followed by PCR-sequencing of the deletion junctions. Sequence homology including both perfect and imperfect short repeats flanking the deletion regions were analyzed and correlated with clinical features and patients' age group. In all age groups, there was a significant increase in sequence homology flanking the deletion compared to mtDNA background. The youngest patient group (deletion distribution in size and locations, with a significantly lower sequence homology flanking the deletion, and the highest percentage of deletion mutant heteroplasmy. The older age groups showed rather discrete pattern of deletions with 44% of all patients over 6 years old carrying the most common 5 kb mtDNA deletion, which was found mostly in muscle specimens (22/41). Only 15% (3/20) of the young patients (deletion, which is usually present in blood rather than muscle. This group of patients predominantly (16 out of 17) exhibit multisystem disorder and/or Pearson syndrome, while older patients had predominantly neuromuscular manifestations including KSS, PEO, and MM. In conclusion, sequence homology at the deletion flanking regions is a consistent feature of mtDNA deletions. Decreased levels of sequence homology and increased levels of deletion mutant heteroplasmy appear to correlate with earlier onset and more severe disease with multisystem involvement.

West syndrome in a patient with Schinzel-Giedion syndrome.

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

2015-06-01

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

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

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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.

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.

Continuum of depressive and manic mixed states in patients with bipolar disorder: quantitative measurement and clinical features

OpenAIRE

SWANN, ALAN C.; STEINBERG, JOEL L.; LIJFFIJT, MARIJN; MOELLER, GERARD F.

2009-01-01

Bipolar mixed states combine depressive and manic features, presenting diagnostic and treatment challenges and reflecting a severe form of the illness. DSM-IV criteria for a mixed state require combined depressive and manic syndromes, but a range of mixed states has been described clinically. A unified definition of mixed states would be valuable in understanding their diagnosis, mechanism and treatment implications. We investigated the manner in which depressive and manic features combine to...

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.

Horner syndrome: clinical perspectives

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Kanagalingam, Sivashakthi; Miller, Neil R

2015-01-01

Horner syndrome consists of unilateral ptosis, an ipsilateral miotic but normally reactive pupil, and in some cases, ipsilateral facial anhidrosis, all resulting from damage to the ipsilateral oculosympathetic pathway. Herein, we review the clinical signs and symptoms that can aid in the diagnosis and localization of a Horner syndrome as well as the causes of the condition. We emphasize that pharmacologic testing can confirm its presence and direct further testing and management. PMID:28539793

Features of ovarian cancer in Lynch syndrome (Review).

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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.

Refining the clinical phenotype of Okur–Chung neurodevelopmental syndrome

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Akahira-Azuma, Moe; Tsurusaki, Yoshinori; Enomoto, Yumi; Mitsui, Jun; Kurosawa, Kenji

2018-01-01

We describe an 8-year-old Japanese boy with a de novo recurrent missense mutation in CSNK2A1, c.593A>G, that is causative of Okur–Chung neurodevelopmental syndrome. He exhibited distinctive facial features, severe growth retardation with relative macrocephaly, and friendly, hyperactive behavior. His dysmorphic features might suggest a congenital histone modification defect syndrome, such as Kleefstra, Coffin–Siris, or Rubinstein–Taybi syndromes, which are indicative of functional interactions between the casein kinase II, alpha 1 gene and histone modification factors. PMID:29619237

Clinical update on metabolic syndrome

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Juan Diego Hernández-Camacho

2017-12-01

Full Text Available Metabolic syndrome has been defined as a global issue since it affects a lot of people. Numerous factors are involved in metabolic syndrome development. It has been described that metabolic syndrome has negative consequences on health. Consequently, a lot of treatments have been proposed to palliate it such as drugs, surgery or life style changes where nutritional habits have shown to be an important point in its management. The current study reviews the literature existing about the actual epidemiology of metabolic syndrome, the components involucrate in its appearance and progression, the clinical consequences of metabolic syndrome and the nutritional strategies reported in its remission. A bibliographic search in PubMed and Medline was performed to identify eligible studies. Authors obtained that metabolic syndrome is present in population from developed and undeveloped areas in a huge scale. Environmental and genetic elements are involucrate in metabolic syndrome development. Metabolic syndrome exponentially increased risk of cardiovascular disease, some types of cancers, diabetes mellitus type 2, sleep disturbances, etc. Nutritional treatments play a crucial role in metabolic syndrome prevention, treatment and recovery.

Joubert syndrome: Clinical and radiological characteristics of nine patients

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Ahmed Farag Elhassanien

2013-01-01

Full Text Available Background: Joubert Syndrome (JS is a rare genetic developmental disorder, first identified in 1969. In patients with JS, certain regions of the brain (mainly cerebellar vermis and brainstem are underdeveloped or malformed. This can lead to impaired attention, visual, spatial, motor, language and social functional skills. JS is characterized by a host of features, many of which do not occur in every patient. Aim of the Study: To spotlight and increase awareness of clinical profile and neuroimaging findings of children with Joubert syndrome. Methods: This is a retrospective case series study of patients with JS who attended the Pediatric Neurology Clinic in Aladan and Alfarawanya Hospitals in Kuwait, from September 2007 to September 2012. Clinical and radiological data were obtained from the patient medical records. Results: Cerebellar vermis hypoplasia/aplasia and apnea were present in all patients, polydactly in 3 of 16, renal problems with cysts in 5 patients and 11 of 16 had abnormal electroretinograms (ERGs. Blood investigations of organic acids, amino acids and very-long-chain fatty acid, were normal in the all the nine patients. Conclusion: JS is a rare genetic brain malformation with association of retinal dystrophy and renal abnormalities. The retinal dystrophy may be progressive. The prognosis of patients depends mainly on the degree of brain malformation.

Further Delineation of the Clinical Phenotype of Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4

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Saud Alsahli

2018-02-01

Full Text Available Background: Cerebellar ataxia, mental retardation, and disequilibrium syndrome (CAMRQ is a heterogeneous group of genetic disorders that have been grouped by shared clinical features; all of these features are transmitted via an autosomal recessive mechanism. Four variants of this syndrome have been identified so far, and each one differs in terms of both clinical and genotypical features. CAMRQ4 is a rare genetic disorder characterized by mental retardation, ataxia or an inability to walk, dysarthria and, in some patients, quadrupedal gait. Methods: We investigated three Saudi families with CAMRQ4. Blood samples were collected from the affected patients, their parents, and healthy siblings. DNA was extracted from whole blood, and whole-exome sequencing was performed. Findings were confirmed by segregation analysis, which was performed on other family members. Results: Thus far, 17 patients have been affected by CAMRQ4. Genetic analysis of all patients, including our current patients, showed a mutation in the aminophospholipid transporter, class I, type 8A, member 2 gene ( ATP8A2 . A series of common phenotypical features have been reported in these patients, with few exceptions. Ataxia, mental retardation, and hypotonia were present in all patients, consanguinity in 90% and abnormal movements in 50%. Moreover, 40% achieved ambulation at least once in their lifetime, 40% had microcephaly, whereas 30% were mute. Magnetic resonance imaging (MRI of the brain was normal in 60% of patients. Conclusions: We described the largest cohort of patients with CAMRQ4 syndrome and identified three novel mutations. CAMRQ4 syndrome should be suspected in patients presenting with ataxia, intellectual disability, hypotonia, microcephaly, choreoathetoid movements, ophthalmoplegia, and global developmental delay, even if brain MRI appears normal.

Further Delineation of the Clinical Phenotype of Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4.

Science.gov (United States)

Alsahli, Saud; Alrifai, Muhammad Talal; Al Tala, Saeed; Mutairi, Fuad Al; Alfadhel, Majid

2018-01-01

Cerebellar ataxia, mental retardation, and disequilibrium syndrome (CAMRQ) is a heterogeneous group of genetic disorders that have been grouped by shared clinical features; all of these features are transmitted via an autosomal recessive mechanism. Four variants of this syndrome have been identified so far, and each one differs in terms of both clinical and genotypical features. CAMRQ4 is a rare genetic disorder characterized by mental retardation, ataxia or an inability to walk, dysarthria and, in some patients, quadrupedal gait. We investigated three Saudi families with CAMRQ4. Blood samples were collected from the affected patients, their parents, and healthy siblings. DNA was extracted from whole blood, and whole-exome sequencing was performed. Findings were confirmed by segregation analysis, which was performed on other family members. Thus far, 17 patients have been affected by CAMRQ4. Genetic analysis of all patients, including our current patients, showed a mutation in the aminophospholipid transporter, class I, type 8A, member 2 gene ( ATP8A2 ). A series of common phenotypical features have been reported in these patients, with few exceptions. Ataxia, mental retardation, and hypotonia were present in all patients, consanguinity in 90% and abnormal movements in 50%. Moreover, 40% achieved ambulation at least once in their lifetime, 40% had microcephaly, whereas 30% were mute. Magnetic resonance imaging (MRI) of the brain was normal in 60% of patients. We described the largest cohort of patients with CAMRQ4 syndrome and identified three novel mutations. CAMRQ4 syndrome should be suspected in patients presenting with ataxia, intellectual disability, hypotonia, microcephaly, choreoathetoid movements, ophthalmoplegia, and global developmental delay, even if brain MRI appears normal.

Costello syndrome

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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.

The Clinical Features of Myositis-Associated Autoantibodies: a Review.

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Gunawardena, Harsha

2017-02-01

The idiopathic inflammatory myopathies (IIM) are a group of autoimmune diseases traditionally defined by clinical manifestations including skeletal muscle weakness, skin rashes, elevated skeletal muscle enzymes, and neurophysiological and/or histological evidence of muscle inflammation. Patients with myositis overlap can develop other features including parenchymal lung disease, inflammatory arthritis, gastrointestinal manifestations and marked constitutional symptoms. Although patients may be diagnosed as having polymyositis (PM) or dermatomyositis (DM) under the IIM spectrum, it is quite clear that disease course between subgroups of patients is different. For example, interstitial lung disease may predominate in some, whereas cutaneous complications, cancer risk, or severe refractory myopathy may be a significant feature in others. Therefore, tools that facilitate diagnosis and indicate which patients require more detailed investigation for disease complications are invaluable in clinical practice. The expanding field of autoantibodies (autoAbs) associated with connective tissue disease (CTD)-myositis overlap has generated considerable interest over the last few years. Using an immunological diagnostic approach, this group of heterogeneous conditions can be separated into a number of distinct clinical phenotypes. Rather than diagnose a patient as simply having PM, DM or overlap CTD, we can define syndromes to differentiate disease subsets that emphasise clinical outcomes and guide management. There are now over 15 CTD-myositis overlap autoAbs found in patients with a range of clinical manifestations including interstitial pneumonia, cutaneous disease, cancer-associated myositis and autoimmune-mediated necrotising myopathy. This review describes their diagnostic utility, potential role in disease monitoring and response to treatment. In the future, routine use of these autoAb will allow a stratified approach to managing this complex set of conditions.

Marfan Syndrome: A Clinical Update.

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Bitterman, Adam D; Sponseller, Paul D

2017-09-01

Marfan syndrome is a connective tissue disorder that can affect many organ systems. Affected patients present with orthopaedic manifestations of the syndrome during all phases of life. Pain caused by musculoskeletal abnormalities often requires definitive orthopaedic treatment. Orthopaedic surgeons must understand the phenotypes of Marfan syndrome so they can recognize when screening is warranted and can appropriately address the skeletal manifestations. Through medical advancements, patients with Marfan syndrome are living longer and more active lives. Knowledge of the latest diagnostic criteria for the disorder, as well as of advances in understanding the skeletal phenotype, clinical trials of medication therapy, and lifestyle considerations is important for orthopaedic surgeons who treat these patients because these clinicians often are the first to suspect Marfan syndrome and recommend screening.

Solitary rectal ulcer syndrome: demographic, clinical, endoscopic and histological panorama

International Nuclear Information System (INIS)

Abbasi, A.; Bhutto, K. A.R.; Baloch, A.

2015-01-01

To assess the demographic, clinical, endoscopic and histological spectrum of Solitary Rectal Ulcer Syndrome (SRUS). Study Design: Cross-sectional observational study. Place and Duration of Study: Medical Unit-III, Civil Hospital Karachi (CHK) and Ward 7, Jinnah Postgraduate Medical Centre (JPMC), Karachi, from January 2009 to June 2012. Methodology: Patients with SRUS, based on characteristic endoscopic and histological findings, were enrolled. Patients were excluded if they had other causes of the rectal lesions (neoplasm, infection, inflammatory bowel disease, and trauma). Endoscopically, lesions were divided on the basis of number (solitary or multiple) and appearance (ulcerative, polypoidal/nodular or erythematous mucosa). Demographic, clinical and endoscopic characteristics of subjects were evaluated. Results: Forty-four patients met the inclusion criteria; 21 (47.7%) were females and 23 (52.3%) were males with overall mean age of 33.73 ±13.28 years. Symptom-wise 41 (93.2%) had bleeding per rectum, 39 (88.6%) had mucous discharge, 34 (77.3%) had straining, 34 (77.3%) had constipation, 32 (72.7%) had tenesmus, 5 (11.4%) had rectal prolapse and 2 (4.5%) had fecal incontinence. Twelve (27.27%) patients presented with hemoglobin less 10 gm/dl, 27 (61.36%) with 10 - 12 gm/dl and 05 (11.36%) subjects had hemoglobin more than 12 gm/dl. Endoscopically, 26 (59.1%) patients had mucosal ulceration, 11 (25.0%) had mucosal ulceration with polypoid characteristics; while only polypoid features were found in 7 (15.9%) subjects. Conclusion: Solitary rectal ulcer syndrome affects adults of both genders with diverse clinical presentation and nonspecific endoscopic features. (author)

Skeletal Muscle Laminopathies: A Review of Clinical and Molecular Features

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Lorenzo Maggi

2016-08-01

Full Text Available LMNA-related disorders are caused by mutations in the LMNA gene, which encodes for the nuclear envelope proteins, lamin A and C, via alternative splicing. Laminopathies are associated with a wide range of disease phenotypes, including neuromuscular, cardiac, metabolic disorders and premature aging syndromes. The most frequent diseases associated with mutations in the LMNA gene are characterized by skeletal and cardiac muscle involvement. This review will focus on genetics and clinical features of laminopathies affecting primarily skeletal muscle. Although only symptomatic treatment is available for these patients, many achievements have been made in clarifying the pathogenesis and improving the management of these diseases.

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,

[Gene mutation and clinical phenotype analysis of patients with Noonan syndrome and hypertrophic cardiomyopathy].

Science.gov (United States)

Liu, X H; Ding, W W; Han, L; Liu, X R; Xiao, Y Y; Yang, J; Mo, Y

2017-10-02

Objective: To analyze the gene mutations and clinical features of patients with Noonan syndrome and hypertrophic cardiomyopathy. Method: Determined the mutation domain in five cases diagnosed with Noonan syndrome and hypertrophic cardiomyopathy and identified the relationship between the mutant domain and hypertrophic cardiomyopathy by searching relevant articles in pubmed database. Result: Three mutant genes (PTPN11 gene in chromosome 12, RIT1 gene in chromosome 1 and RAF1 gene in chromosome 3) in five cases all had been reported to be related to hypertrophic cardiomyopathy. The reported hypertrophic cardiomyopathy relevant genes MYPN, MYH6 and MYBP3 had also been found in case 1 and 2. Patients with same gene mutation had different clinical manifestations. Both case 4 and 5 had RAF1 mutation (c.770C>T). However, case 4 had special face, low IQ, mild pulmonary artery stenosis, and only mild ventricular hypertrophy. Conclusion: Noonan syndrome is a genetic heterogeneity disease. Our study identified specific gene mutations that could result in Noonan syndrome with hypertrophic cardiomyopathy through molecular biology methods. The results emphasize the importance of gene detection in the management of Noonan syndrome.

Nutrition in clinical practice-the refeeding syndrome: illustrative cases and guidelines for prevention and treatment.

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Stanga, Z; Brunner, A; Leuenberger, M; Grimble, R F; Shenkin, A; Allison, S P; Lobo, D N

2008-06-01

The refeeding syndrome is a potentially lethal complication of refeeding in patients who are severely malnourished from whatever cause. Too rapid refeeding, particularly with carbohydrate may precipitate a number of metabolic and pathophysiological complications, which may adversely affect the cardiac, respiratory, haematological, hepatic and neuromuscular systems leading to clinical complications and even death. We aimed to review the development of the refeeding syndrome in a variety of situations and, from this and the literature, devise guidelines to prevent and treat the condition. We report seven cases illustrating different aspects of the refeeding syndrome and the measures used to treat it. The specific complications encountered, their physiological mechanisms, identification of patients at risk, and prevention and treatment are discussed. Each case developed one or more of the features of the refeeding syndrome including deficiencies and low plasma levels of potassium, phosphate, magnesium and thiamine combined with salt and water retention. These responded to specific interventions. In most cases, these abnormalities could have been anticipated and prevented. The main features of the refeeding syndrome are described with a protocol to anticipate, prevent and treat the condition in adults.

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

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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.

Acute traumatic central cord syndrome: analysis of clinical and radiological correlations.

Science.gov (United States)

Miranda, P; Gomez, P; Alday, R

2008-12-01

In patients with traumatic spinal cord injury, several studies correlate neurological impairment and radiological findings. However, little information is available about this correspondence in the particular group of acute traumatic central cord syndrome. The object of the present work was to describe the clinical and radiological features of a series of patients presenting with acute traumatic central cord syndrome and to analyze clinical and radiological correlations on admission and at last follow-up. Retrospective review of 15 patients diagnosed of acute traumatic central cord syndrome between 1995 and 2005. Global motor score and motor score in upper extremities were determined on admission and at last follow-up (6 months-4 years, mean 16 months). Plain films, cervical computed tomography and magnetic resonance (MR) were performed in every patient and retrieved for the study. In seven patients, serial MR studies were performed during follow-up. Clinical and radiological correlations were statistically analyzed with non-parametric tests. Cervical spondylosis appeared associated with older age, falls, and absence of fracture. Spinal cord edema was the most common finding in MR studies but hemorrhage was also observed. The length of spinal cord edema significantly correlated with initial motor score. The decrease in T2-weighted hyperintensity in serial MR studies correlated with the gain of motor power in upper limbs at last follow-up. Elderly patients with more degenerated cervical spines commonly develop acute traumatic central cord syndrome after incidental falls. Length of spinal cord edema correlates with neurological impairment on admission and may provide significant prognostic information.

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

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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.

Clinical and genetic features of ataxia-telangiectasia

International Nuclear Information System (INIS)

Bundey, S.

1994-01-01

There are several variants of ataxia-telangiectasia (A-T): classical A-T with marked radiation sensitivity; classical A-T with intermediate levels of radiation sensitivity; mild A-T with intermediate levels of radiation sensitivity; A-T without telangiectasia; A-T without oculomoto apraxia; and A-T with microcephaly. These disorders are probably caused by different allelic mutations, because affected sibs resemble the index patients, and because there is an association of certain haplo-types of 11q22-23 with specific phenotypes. The Nijmegen Breakage Syndrome, with its lack of ataxia, seems on clinical grounds to be a different disorder. Although A-T is almost always inherited as an autosomal recessive, there are some unusual features; an unexpectedly low parental consanguinity rate, an incidence in sibs that is < 0.25, and occurrence of disease in many different races and in the offspring of mixed race unions. Moreover, looking at haplotypes from 63 UK patients, there is a remarkably low incidence of homozygosity. An autosomal recessive condition that is deficient in parental consanguinity, and in homozygosity for the region around the gene, can be explained by J.H. Edwards' hypothesis that homozygosity for alleles at a neighbouring locus are lethal early in embryogenesis. Other possible mechanisms to explain the unusual genetic features are discussed. (author)

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

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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.

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...

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...

Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis

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Hastings, Rob; Cobben, Jan-Maarten; Gillessen-Kaesbach, Gabriele

2011-01-01

Bohring-Opitz syndrome (BOS) is a rare congenital disorder of unknown etiology diagnosed on the basis of distinctive clinical features. We suggest diagnostic criteria for this condition, describe ten previously unreported patients, and update the natural history of four previously reported patients...

Marfan Syndrome: Clinical, Surgical, and Anesthetic Considerations.

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Castellano, José M; Silvay, George; Castillo, Javier G

2014-09-01

Marfan syndrome is a multisystem connective tissue disorder, with primary involvement of the cardiovascular, ocular, and skeletal systems. This autosomal heritable disease is mainly attributable to a defect in the FBN1 gene. Clinical diagnosis of Marfan syndrome has been based on the Ghent criteria since 1996. In 2010, these criteria were updated, and the revised guidelines place more emphasis on aortic root dilation, ectopia lentis, and FBN1 mutation testing in the diagnostic assessment of Marfan syndrome. Among its many different clinical manifestations, cardiovascular involvement deserves special consideration, owing to its impact on prognosis. Recent molecular, surgical, and clinical research has yielded profound new insights into the pathological mechanisms that ultimately lead to tissue degradation and weakening of the aortic wall, which has led to exciting new treatment strategies. Furthermore, with the increasing life expectancy of patients with Marfan syndrome, there has been a subtle shift in the spectrum of medical problems. Consequently, this article focuses on recent advances to highlight their potential impact on future concepts of patient care from a clinical, surgical, and anesthetic perspective. © The Author(s) 2013.

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.

[Clinical demonstrations: Heart rupture in acute myocardial infarct. Infectious endocarditis. Wolff-Parkinson-White syndrome].

Science.gov (United States)

Nager, F

1984-12-08

This clinical demonstration includes three topics of clinical cardiology: myocardial rupture in acute myocardial infarction, infective endocarditis, and WPW-syndrome with paroxysmal supraventricular tachycardia. In the first part three cases with septal perforation or papillary muscle rupture are demonstrated. Our experience with myocardial rupture (free wall, septum, papillary muscle) during the last six years is summarized with special reference to the significance and the differential diagnosis of systolic regurgitant murmurs after myocardial infarction. Special features of acute mitral incompetence (papillary muscle dysfunction) in myocardial infarction are outlined and diagnostic guidelines for differentiation between septal perforation and papillary muscle rupture are discussed. In the second part two patients with aortic (e.g. mitral) valve rupture in the course of infective endocarditis are presented. The synoptic comparison of these two patients is related to the results of our own clinical studies on the changing pattern of infective endocarditis (epidemiologically, clinically) during the last three decades. The clinical picture of acute aortic valve rupture is outlined and the bedside signs indicating catastrophic complications of infective endocarditis are summarized. In the third part the odyssey of a patient with WPW-syndrome and consecutive paroxysmal supraventricular tachycardia is described. Progress in electrophysiological analysis of the re-entry circles in preexcitation syndromes is outlined.

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.

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.

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.

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.

Schwartz–jampel syndrome: Clinical and diagnostic phenotype of a rare genetic disorder

Directory of Open Access Journals (Sweden)

Bhaskara P Shelley

2016-01-01

Full Text Available The distinctive phenotypic, clinical, skeletal characteristics with the typical electrophysiological features of an 11-year-old male child who presented to the neurology outpatient service are described, with the objective of emphasizing the diagnostic awareness of chondrodystrophic myotonia or Schwartz–Jampel syndrome, a very rare genetic disorder. This autosomal recessive disorder due to mutations in the gene Perlecan leads to abnormal cartilage development and anomalous neuromuscular activity.

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....

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.

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.

Arima syndrome caused by CEP290 specific variant and accompanied with pathological cilium; clinical comparison with Joubert syndrome and its related diseases.

Science.gov (United States)

Itoh, Masayuki; Ide, Shuhei; Iwasaki, Yuji; Saito, Takashi; Narita, Keishi; Dai, Hongmei; Yamakura, Shinji; Furue, Takeki; Kitayama, Hirotsugu; Maeda, Keiko; Takahashi, Eihiko; Matsui, Kiyoshi; Goto, Yu-Ichi; Takeda, Sen; Arima, Masataka

2018-04-01

Arima syndrome (AS) is a rare disease and its clinical features mimic those of Joubert syndrome or Joubert syndrome-related diseases (JSRD). Recently, we clarified the AS diagnostic criteria and its severe phenotype. However, genetic evidence of AS remains unknown. We explored causative genes of AS and compared the clinical and genetic features of AS with the other JSRD. We performed genetic analyses of 4 AS patients of 3 families with combination of whole-exome sequencing and Sanger sequencing. Furthermore, we studied cell biology with the cultured fibroblasts of 3 AS patients. All patients had a specific homozygous variant (c.6012-12T>A, p.Arg2004Serfs*7) or compound heterozygous variants (c.1711+1G>A; c.6012-12T>A, p.Gly570Aspfs*19;Arg2004Serfs*7) in centrosomal protein 290 kDa (CEP290) gene. These unique variants lead to abnormal splicing and premature termination. Morphological analysis of cultured fibroblasts from AS patients revealed a marked decrease of the CEP290-positive cell number with significantly longer cilium and naked and protruded ciliary axoneme without ciliary membrane into the cytoplasm. AS resulted in cilia dysfunction from centrosome disruption. The unique variant of CEP290 could be strongly linked to AS pathology. Here, we provided AS specific genetic evidence, which steers the structure and functions of centrosome that is responsible for normal ciliogenesis. This is the first report that has demonstrated the molecular basis of Arima syndrome. Copyright © 2017 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

Wells syndrome and its relationship to Churg-Strauss syndrome.

Science.gov (United States)

Ratzinger, Gudrun; Zankl, Julia; Zelger, Bernhard

2013-08-01

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

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)

Clinical Heterogeneity in two patients with Noonan-like Syndrome associated with the same SHOC2 mutation.

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Capalbo, Donatella; Scala, Maria Giuseppa; Melis, Daniela; Minopoli, Giorgia; Improda, Nicola; Palamaro, Loredana; Pignata, Claudio; Salerno, Mariacarolina

2012-09-20

Noonan-like syndrome with loose anagen hair (NS/LAH; OMIM #607721) has been recently related to the invariant c.4A > G missense change in SHOC2. It is characterized by features reminiscent of Noonan syndrome. Ectodermal involvement, short stature associated to growth hormone (GH) deficiency (GHD), and cognitive deficits are common features. We compare in two patients with molecularly confirmed NS/LAH diagnosis, the clinical phenotype and pathogenetic mechanism underlying short stature. In particular, while both the patients exhibited a severe short stature, GH/IGFI axis functional evaluation revealed a different pathogenetic alteration, suggesting in one patient an upstream alteration (typical GHD) and in the other one a peripheral GH insensitivity.

Clinical and Biochemical Characteristics of Polycystic Ovarian Syndrome among Women in Bangladesh.

Science.gov (United States)

Islam, S; Pathan, F; Ahmed, T

2015-04-01

Clinical and Biochemical characteristics age, central obesity, Glucose intolerance, lipid abnormality, thyroid function, prolactin level, clinical signs & symptoms and ultrasonographic ovarian feature of 70 women were studied and prevalence of hyper-prolactinemia, hypothyroidism and Metabolic syndrome were calculated in the Endocrine OPD of BIRDEM during November 2010 to May 2011.Age of the PCOS population was 23.02±7.04 year, central obesity in 81.4%, abnormal glucose tolerance in 47.1%, dyslipidemia in 45.7%, hypertension in 24.3%, hirsutism in 88.6%, acanthosis nigricans in 50%, polycystic ovaries by ultrasound (87%) cases. One third of the PCOS cases i.e.; 33% were without hyperprolactinemia or hypothyroidism or Metabolic Syndrome. And the rest 47 cases had one, two or all the 3 with them. The distribution was PCOS with hyperprolactinemia 18.6%, PCOS with hypothyroidism 11.4%, PCOS with Metabolic Syndrome 15.3%, PCOS with hyperprolactinemia with MS 8.6%, PCOS with hypothyrodism with MS 5.6%, PCOS with hypothyrodism with hyperprolactinemia 4.3% and rest 4.3% had all the 4 in combination. Blood glucose levels during OGTT and TSH levels of the group without Hypothyrid, hyperprolactinoma or Metabolic Syndrome were significantly lower (p≤0.008). Significant proportion of Bangladeshi women with PCOS has hypothyroidsm with or without high prolactin and also have higher incidence of metabolic syndrome. So, all PCOS patients should also be screened for hypothyroidsm and hyperprolactinemia.

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)

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

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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.

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

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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.

Steele Richardson Olszewski syndrome

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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.

The clinical value of pulmonary perfusion imaging complicated with pulmonary embolism in children of nephrotic syndrome

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Lin Jun; Chen Ning; Miao Weibing; Peng Jiequan; Jiang Zhihong; Wu Jing

2001-01-01

To investigate the clinical features of complicated with pulmonary embolism nephrotic syndrome in children. 99m Tc-MAA pulmonary perfusion imaging was performed on 30 nephrotic syndrome in children with elevated plasma D-dimer. Results shown that 14 of 30 patients were found to have pulmonary embolism (46.7%). Pulmonary perfusion imaging showed an involvement of 1 pulmonary segment in 3 cases, 2 segments in 2 cases and over 3 segments in other 9 cases. Among them, there were 7 segments involved in one case. After two weeks of heparin anti-coagulative therapy, most cases showed a recovery. The result of this study suggested that pulmonary embolism is a common complication of nephrotic syndrome. Pulmonary perfusion imaging is simple, effective and accurate method for the diagnosis of pulmonary embolism, and it also can help to assess the value of clinical therapy

CLINICAL AND RADIOGRAPHIC FEATURES OF PARRY-ROMBERG SYNDROME

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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.

Joubert syndrome: Clinical manifestations and magnetic resonance imaging

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Kim, Seung Cheol; Kim, In One; Yoon, Yong Kyu; Yeon, Kyung Mo; Kim, Woo Sun; Song, Jong Gi; Hwang, Yong Seung

1994-01-01

Joubert syndrome presents neonatal respiratory abnormalities and other clinical manifestations. Pathologically the patients show hypoplasia or agenesis of cerebellar vermis and other intracranial anomalies. Our purpose is to evaluate the clinical manifestations and MR findings of Joubert syndrome. Among the patient presenting with clinical stigmata of Joubert syndrome and agenesis of vermis on MR imaging, eight patients who did not satisfied the criteria of Dandy-Walker malformation, tectocerebellar dysraphia and rhombencephalosynapsis were selected. MR findings and clinical manifestation were analyzed. On MR imaging, agenesis of the cerebellar vermis (all cases), hypoplasia of the cerebellar peduncle (6 cases), fourth ventricular contour deformity (6 cases), tentorial elevation (4 caes), deformity of the lateral ventricles (4 cases), dysgenesis of the straight sinus (3 cases) were demonstrated. Other findings were abnormalities of corpus callosum (3 cases), falx anomalies (3 case), occipital encephalomeningocele (2 cases) and fluid collection in posterior cranial fossa (2 cases). Clinical manifestations were developmental delay (5 cases), abnormal eyeball movement (3 cases), hypotonia (2 cases), neonatal respiratory abnormality (2 cases), etc. Joubert syndrome showed various clinical manifestations and intracranial anomalies. MR imaging is an useful modality in detection of the cerebellar vermian agenesis and other anomalies of the patients

Imaging manifestations and its clinical significance in patients with synovitis acne pustulosis hyperostosis osteomyelitis syndrome

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Yu Wei; Lin Qiang; Yao Jinpeng; Chang Yinjuan; Zhou Xiaohong

2012-01-01

Objective: To describe the clinical and imaging manifestations of patients with synovitis acne pustulosis hyperostosis osteomyelitis (SAPHO) syndrome, and to analyze the diagnostic importance of different clinical and imaging manifestations for SAPHO syndrome. Methods: Seventeen patients (7 males and 10 females) with SAPHO syndrome were recruited in this study. Age ranged from 36 to 67 years with a mean age of (48 ± 8) years. All patients fulfilled the diagnostic criteria of Benhamou. Serum HLA B27 antigen records were reviewed for all patients. Imaging data of the abnormal bone sites were collected by conventional radiograph in all patients, CT in 13 patients as well as MR in 3 patients. Average time to take for a definite diagnosis of the syndrome was 3.7 years (ranged from O.5 to 13 years). Results: Serum HLA B27 antigen was positive in all patients. Both skin and bone abnormalities were found in all patients. Ten patients had skin palmoplantar pustulosis and two patients had acne. Involving sites of bone and joints include sacroiliac joints, anterior chest and limbs. Sacroiliac joints were asymmetrically involved with imaging features in all patients. Eight patients exhibited anterior chest wall involvement. Five patients had osteomyelitis at limbs. For all images of 17 patients, CT was superior to conventional radiography in detecting abnormal changes of bone erosion and soft tissue swelling. MR imaging was able to depict edema changes that was not detectable by CT and radiography. Conclusion: SAPHO syndrome is a rare disease, but for patients with skin and bone-joint abnormalities, especially with skin palmoplantar pustulosis, acne as well as with imaging features at the sacroiliac joint and anterior chest wall, SAPHO syndrome should be taken into a diagnostic consideration. (authors)

Differential regional cerebral glucose metabolism in clinical syndromes of frontotemporal lobar degeneration: a study with FDG PET

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Park, J. M.; Cho, S. S.; Na, D. L.; Lee, K. H.; Choi, Y.; Choe, Y. S.; Kim, B. T.; Kim, S. E.

2001-01-01

Frontotemporal lobar degeneration( FTLD) is the third most common dementia, following Alzheimer's disease and Lewy body disease. Four prototypic neurobehavioral syndromes can be produced by FTLD: frontotemporal dementia (FTD), frontotemporal dementia with motor neuron disease (MND), semantic dementia (SD), and progressive aphasia (PA). We investigated patterns of metabolic impairment in patient with FTLD presented with four different clinical syndromes. We analysed glucose metabolic patterns on FDG PET images obtained from 34 patients with a clinical diagnosis of FTLD (19 FTD, 6 MND, 6 SD, and 3 PA, according to a consensus criteria for clinical syndromes associated with FTLD) and 7 age-matched healthy controls using SPM99. Patients with FTD had metabolic deficit in the left frontal cortex and bilateral anterior temporal cortex. Hypometabolism in the bilateral premotor are was shown in patients with MND. Patients with SD had metabolic deficit in the left posterior temporal cortex including Wernicke's area, while hypometabolism in the bilateral inferior frontal gyrus including Broca's area and left angular gyrus was seen in patients with PA. These metabolic patterns were well correlated with clinical features of FTLD syndromes. These data provide a biochemical basis of clinical classification of FTLD. FDG PET may help evaluate and classify patients with FTLD

Differential regional cerebral glucose metabolism in clinical syndromes of frontotemporal lobar degeneration: a study with FDG PET

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Park, J. M.; Cho, S. S.; Na, D. L.; Lee, K. H.; Choi, Y.; Choe, Y. S.; Kim, B. T.; Kim, S. E. [College of Medicine, Sungkyunkwan Univ., Seoul (Korea, Republic of)

2001-07-01

Frontotemporal lobar degeneration( FTLD) is the third most common dementia, following Alzheimer's disease and Lewy body disease. Four prototypic neurobehavioral syndromes can be produced by FTLD: frontotemporal dementia (FTD), frontotemporal dementia with motor neuron disease (MND), semantic dementia (SD), and progressive aphasia (PA). We investigated patterns of metabolic impairment in patient with FTLD presented with four different clinical syndromes. We analysed glucose metabolic patterns on FDG PET images obtained from 34 patients with a clinical diagnosis of FTLD (19 FTD, 6 MND, 6 SD, and 3 PA, according to a consensus criteria for clinical syndromes associated with FTLD) and 7 age-matched healthy controls using SPM99. Patients with FTD had metabolic deficit in the left frontal cortex and bilateral anterior temporal cortex. Hypometabolism in the bilateral premotor are was shown in patients with MND. Patients with SD had metabolic deficit in the left posterior temporal cortex including Wernicke's area, while hypometabolism in the bilateral inferior frontal gyrus including Broca's area and left angular gyrus was seen in patients with PA. These metabolic patterns were well correlated with clinical features of FTLD syndromes. These data provide a biochemical basis of clinical classification of FTLD. FDG PET may help evaluate and classify patients with FTLD.

Early diagnosis of amyotrophic lateral sclerosis mimic syndromes: pros and cons of current clinical diagnostic criteria.

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Cortés-Vicente, Elena; Pradas, Jesús; Marín-Lahoz, Juan; De Luna, Noemi; Clarimón, Jordi; Turon-Sans, Janina; Gelpí, Ellen; Díaz-Manera, Jordi; Illa, Isabel; Rojas-Garcia, Ricard

2017-08-01

To describe the frequency and clinical characteristics of patients referred to a tertiary neuromuscular clinic as having amyotrophic lateral sclerosis (ALS) but who were re-diagnosed as having an ALS mimic syndrome, and to identify the reasons that led to the revision of the diagnosis. We reviewed the final diagnosis of all patients prospectively registered in the Sant Pau-MND register from 1 January 2004 to 31 December 2015. A detailed clinical evaluation and a clinically-guided electrophysiological study were performed at first evaluation. Twenty of 314 (6.4%) patients included were re-diagnosed as having a condition other than ALS, in 18 cases already at first evaluation. An alternative specific diagnosis was identified in 17 of those 20, consisting of a wide range of conditions. The main finding leading to an alternative diagnosis was the result of the electrophysiological study. Fifty per cent did not fulfil the El Escorial revised criteria (EECr) for ALS. The most common clinical phenotype at onset in patients with ALS mimic syndromes was progressive muscular atrophy (PMA). Misdiagnosing ALS is still a common problem. Early identification of ALS mimic syndromes is possible based on atypical clinical features and a clinically-guided electrophysiological study. Patients should be attended in specialised centres. The application of EECr helps to identify ALS misdiagnoses.

Clinical and Biochemical Characteristics of Polycystic Ovary Syndrome in Benghazi- Libya: A Retrospective study

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Elmehdawi RR

2008-01-01

Full Text Available Background: Polycystic ovary syndrome (PCOS is a common endocrine condition affecting women of reproductive age and characterized by chronic anovulation, hyperandrogenism, and polycystic ovaries. There are no published data on this syndrome in Libyan patients. Aims and objectives: To assess the frequency of clinical and biochemical features of PCOS in our patient population, and to compare this with data collected in other parts of the world. Subjects and methods: A retrospective analysis of patient records at the endocrine clinic in Benghazi was undertaken. Patient inclusion was according to Rotterdam ESHRE/ASRM criteria. Clinical features, associated diseases, family history, hormone levels, and ultrasonography results were analyzed. Results: The mean age of the 318 PCOS patients at presentation was 25.8 years (range 15-44 years, and the majority (67% were 20-29 years old at presentation. Of all patients, 57% were obese (BMI ≥ 30, 93% had oligo- / amenorrhea, 91% were hirsute, and 74% had ultrasound features of polycystic ovaries. Diabetes mellitus was diagnosed in 9% of all PCOS patients and hypertension in 4%. Total serum testosterone was elevated in 26% of the patients, and serum prolactin was elevated in 31%. Thyroid disease was noted among 5.3% of the patients, and a history of diabetes or hypertension among first-degree relatives was seen in (16% and (8% of the patients respectively. Conclusion: Chronic anovulation and hirsutism are the dominant features of PCOS in our patient population. More than half were obese, and the prevalence of diabetes, hypertension and thyroid disease in our patients seemed to be underestimated in comparison to other parts of the world.

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

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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

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

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Arturo Bravo-Nuevo

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

Clinical characteristics of mirror syndrome: a comparison of 10 cases of mirror syndrome with non-mirror syndrome fetal hydrops cases.

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Hirata, Go; Aoki, Shigeru; Sakamaki, Kentaro; Takahashi, Tsuneo; Hirahara, Fumiki; Ishikawa, Hiroshi

2016-01-01

To investigate clinical features of mirror syndrome. We retrospectively reviewed 71 cases of fetal hydrops with or without mirror syndrome, and compared with respect to maternal age, the body mass index, the primipara rate, the gestational age at delivery, the timing of fetal hydrops onset, the severity of fetal edema, placental swelling, the laboratory data and the fetal mortality. The data are expressed as the medians. Mirror syndrome developed in 29% (10/35) of the cases with fetal hydrops. In mirror group, the onset time of fetal hydrops was significantly earlier (29 weeks versus 31 weeks, p = 0.011), and the severity of fetal hydrops (fetal edema/biparietal diameter) was significantly higher than non-mirror group (0.23 versus 0.16, p < 0.001). There was significantly higher serum human chorionic gonadotropin (hCG) (453,000 IU/L versus 80,000 IU/L, p < 0.001) and lower hemoglobin (8.9 g/dL versus 10.1 g/dL, p =0.002), hypoalbuminemia (2.3 mg/dL versus 2.7 mg/dL, p = 0.007), hyperuricemia (6.4 mg/dL versus 5.0 mg/dL, p = 0.043) in mirror group. Mirror syndrome is occurred frequently in early and severe fetal hydrops and cause hemodilution and elevation of serum hCG.

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

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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

F-18 FDG PET/CT in 26 patients with SAPHO syndrome: a new vision of clinical and bone scintigraphy correlation.

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Sun, Xiaochuan; Li, Chen; Cao, Yihan; Shi, Ximin; Li, Li; Zhang, Weihong; Wu, Xia; Wu, Nan; Jing, Hongli; Zhang, Wen

2018-05-22

Whole-body bone scintigraphy (WBBS) and MRI are widely used in assessment of patients with synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome. However, the value of F-18 fluorodeoxyglucose-positron emission tomography/computed tomography ( 18 F-FDG PET/CT) in SAPHO syndrome was unclear. The aim of this study was to characterize the manifestation of SAPHO syndrome on 18 F-FDG PET/CT and explore its relationship with clinical symptoms and WBBS. Twenty-six patients who suffered from SAPHO syndrome and had undergone whole-body 18 F-FDG PET/CT were recruited in Peking Union Medical College Hospital from 2004 to 2016. Clinical manifestations and laboratory findings were recorded for all patients. Imaging data on 18F-FDG PET/CT and WBBS were collected and analyzed retrospectively. All the 26 patients (20 females and 6 males) exhibited skeletal abnormalities on 18 F-FDG PET/CT. Multiple skeletal lesions affecting the anterior chest wall or spine with low to moderate 18 F-FDG uptake and coexistence of osteolysis and osteosclerosis presented as the typical features of SAPHO syndrome. Sixteen (61.5%) patients had abnormal 18 F-FDG uptake outside the osteoarticular system. PET scan had moderate to substantial agreement with CT and WBBS in revealing lesions in the anterior chest wall and axial skeleton. Nonetheless, the correlation between increased 18 F-FDG uptake and clinical symptoms was weak. SAPHO syndrome exhibits characteristic features on 18 F-FDG PET/CT. It showed comparable capacity in revealing skeletal lesions with bone scintigraphy.

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

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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.

Lowe Syndrome (Oculo-cerebro-renal Syndrome of Lowe: A Case Report from Eastern India

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Dipankar Das

2014-01-01

Full Text Available Lowe syndrome (the oculocerebrorenal syndrome of Lowe, OCRL is a rare X-linked recessive metabolic disorder that primarily affects eyes, kidneys and brain. It is caused by the deficiency of enzyme phosphatidylinositol 4, 5-bisphosphate 5-phosphatase. The gene coding for this enzyme, OCRL1 and mutations in it are responsible to cause Lowe Syndrome. We report a 6 years old boy from Eastern India, with Lowe Syndrome. Diagnosis was suggested by typical features in the MRI of the brain along with other clinical feature and investigation.

DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.

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Campeau, Philippe M; Hennekam, Raoul C

2014-09-01

DOORS syndrome (Deafness, Onychodystrophy, Osteodystrophy, mental Retardation, Seizures) is characterized mainly by sensorineural deafness, shortened terminal phalanges with small nails of hands and feet, intellectual deficiency, and seizures. Half of the patients with all clinical features have mutations in TBC1D24. We review here the manifestations of patients clinically diagnosed with DOORS syndrome. In this cohort of 32 families (36 patients) we detected 13 individuals from 10 families with TBC1D24 mutations. Subsequent whole exome sequencing in the cohort showed the same de novoSMARCB1 mutation (c.1130G>A), known to cause Coffin-Siris syndrome, in two patients. Distinguishing features include retinal anomalies, Dandy-Walker malformation, scoliosis, rocker bottom feet, respiratory difficulties and absence of seizures, and 2-oxoglutaric aciduria in the patients with the SMARCB1 mutation. We briefly discuss the heterogeneity of the DOORS syndrome phenotype and the differential diagnosis of this condition. © 2014 Wiley Periodicals, Inc.

Clinical and Immunological Features of Opsoclonus-Myoclonus Syndrome in the Era of Neuronal Cell Surface Antibodies.

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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

SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases.

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Zarate, Yuri A; Bhoj, Elizabeth; Kaylor, Julie; Li, Dong; Tsurusaki, Yoshinori; Miyake, Noriko; Matsumoto, Naomichi; Phadke, Shubha; Escobar, Luis; Irani, Afifa; Hakonarson, Hakon; Schrier Vergano, Samantha A

2016-08-01

Coffin-Siris syndrome (CSS, MIM 135900), is a well-described, multiple congenital anomaly syndrome characterized by coarse facial features, hypertrichosis, sparse scalp hair, and hypo/aplastic digital nails and phalanges, typically of the 5th digits. Mutations in the BAF (SWI/SNF)-complex subunits (SMARCA4, SMARCE1, SMARCB1, SMARCA2, ARID1B, and ARID1A) have been shown to cause not only CSS, but also related disorders including Nicolaides-Baraitser (MIM 601358) syndrome and ARID1B-intellectual disability syndrome (MIM 614562). At least 200 individuals with CSS have been found to have a mutation in the BAF pathway. However, to date, only three individuals with CSS have been reported to have pathogenic variants in SMARCE1. We report here three additional individuals with clinical features consistent with CSS and alterations in SMARCE1, one of which is novel. The probands all exhibited dysmorphic facial features, moderate developmental and cognitive delay, poor growth, and hypoplastic digital nails/phalanges, including digits not typically affected in the other genes associated with CSS. Two of the three probands had a variety of different organ system anomalies, including cardiac disease, genitourinary abnormalities, feeding difficulties, and vision abnormalities. The 3rd proband has not had further investigative studies. Although an increasing number of individuals are being diagnosed with disorders in the BAF pathway, SMARCE1 is the least common of these genes. This report doubles the number of probands with these mutations, and allows for better phenotypic information of this rare syndrome. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

SMARCE1, a Rare Cause of Coffin–Siris Syndrome: Clinical Description of Three Additional Cases

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Zarate, Yuri A.; Bhoj, Elizabeth; Kaylor, Julie; Li, Dong; Tsurusaki, Yoshinori; Miyake, Noriko; Matsumoto, Naomichi; Phadke, Shubha; Escobar, Luis; Irani, Afifa; Hakonarson, Hakon; Schrier Vergano, Samantha A.

2018-01-01

Coffin–Siris syndrome (CSS, MIM 135900), is a well-described, multiple congenital anomaly syndrome characterized by coarse facial features, hypertrichosis, sparse scalp hair, and hypo/aplastic digital nails and phalanges, typically of the 5th digits. Mutations in the BAF (SWI/SNF)-complex subunits (SMARCA4, SMARCE1, SMARCB1, SMARCA2, ARID1B, and ARID1A) have been shown to cause not only CSS, but also related disorders including Nicolaides–Baraitser (MIM 601358) syndrome and ARID1B-intellectual disability syndrome (MIM 614562).At least 200 individuals with CSS have been found to have a mutation in the BAF pathway. However, to date, only three individuals with CSS have been reported to have pathogenic variants in SMARCE1. We report here three additional individuals with clinical features consistent with CSS and alterations in SMARCE1, one of which is novel. The probands all exhibited dysmorphic facial features, moderate developmental and cognitive delay, poor growth, and hypoplastic digital nails/phalanges, including digits not typically affected in the other genes associated with CSS. Two of the three probands had a variety of different organ system anomalies, including cardiac disease, genitourinary abnormalities, feeding difficulties, and vision abnormalities. The 3rd proband has not had further investigative studies. Although an increasing number of individuals are being diagnosed with disorders in the BAF pathway, SMARCE1 is the least common of these genes. This report doubles the number of probands with these mutations, and allows for better phenotypic information of this rare syndrome. PMID:27264197

Clinical Features of Ehlers-Danlos Syndrome

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Jui-Lung Yen

2006-01-01

Conclusion: The results of this study emphasize the importance of echocardiographic monitoring of aortic size and valvular condition, and assessment of bone mineral density in patients with EDS. Clinical evaluation and counseling should be undertaken prior to pregnancy in patients with EDS because of the risk from labor and vaginal delivery in patients with type IV and the inability to distinguish EDS subtypes in Taiwan due to the unavailability of biochemical assay or molecular mutation analysis as part of standard care.

Clinical and radiological features of bronchiolitis obliterans in children

International Nuclear Information System (INIS)

Peng Yun; Sun Guoqiang; Zeng Jinjin; Ma Daqing

2006-01-01

Objective: To study the value of chest radiograph and thin-section computed tomography (CT) in diagnosis bronchiolitis obliterans in children, and to determine clinical view of obliterative bronchiolitis in children. Methods: We identified 12 infants, 10 boys, and 2 girls (age range, 5 month to 11 years) with clinical confirmation of bronchiolitis obliterans. Three cases were after Steven-Johnson syndrome, 8 were post-infection (2 adenovirus, 2 measles and 1 Pseudomonas aeruginosa infection, 3 cases were unknown etiology infection); The symptoms lasted for at least 6 weeks. One case had lung ventilation nuclear scan. We evaluated individual bronchoscopy, pulmonary function test, chest radiograph and thin- section CT features and their characteristic appearance. Results: All cases had typical clinical characteristics and pulmonary function testing results that were consistent with nonreversible small airways obstruction. One case had lung ventilation nuclear scan illustrated absent and reduced ventilation of the right lower lobe. Nine cases who underwent bronchoscopy were chronic endobronchial inflammation. Three children had transbronchial biopsy and 1 patient who underwent open pulmonary biopsies were uncertain of histological diagnosis. Chest radiography showed hyperinflation in 8 cases; peribronchial thickening in 6 cases; consolidation/atelectasia in 6 cases; unilateral hyperlucency of a small/normal-sized lung in 4 cases. Thin-section CT/HRCT features included: mosaic perfusion pattern, decreased lung attenuation in 11 cases, pulmonary vascular attenuation in 10 cases; bronchial dilatation in 7 cases; bronchial wall thickening in 9 cases; unilateral hyperlucency of a small/normal-sized lung in 5 cases; consolidation in 6 cases; nodular in 3 cases; mucoid impaction in 5 cases. Conclusions: In our study, correct diagnoses of bronchiolitis obliterans in children were made more special with thin-section CT than with chest radiographs. The diagnosis of BO in

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

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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...

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

Stiff Person Syndrome: A Rare Neurological Disorder, Heterogeneous in Clinical Presentation and Not Easy to Treat

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Susanne Buechner

2015-01-01

Full Text Available Background. Stiff person syndrome (SPS is a rare neurological disorder characterized by progressive rigidity of axial and limb muscles associated with painful spasms. SPS can be classified into classic SPS, paraneoplastic SPS, and SPS variants. Its underlying pathogenesis is probably autoimmune, as in most cases antibodies against glutamic acid decarboxylase (GAD are observed. Similarly, paraneoplastic SPS is usually linked to anti-amphiphysin antibodies. Treatment is based on drugs enhancing gamma-aminobutyric acid (GABA transmission and immunomodulatory agents. Case Series. Patient 1 is a 45-year-old male affected by the classic SPS, Patient 2 is a 73-year-old male affected by paraneoplastic SPS, and Patient 3 is a 68-year-old male affected by the stiff limb syndrome, a SPS variant where symptoms are confined to the limbs. Symptoms, diagnostic findings, and clinical course were extremely variable in the three patients, and treatment was often unsatisfactory and not well tolerated, thus reducing patient compliance. Clinical manifestations also included some unusual features such as recurrent vomiting and progressive dysarthria. Conclusions. SPS is a rare disorder that causes significant disability. Because of its extensive clinical variability, a multitask and personalized treatment is indicated. A clearer understanding of uncommon clinical features and better-tolerated therapeutic strategies are still needed.

Dystonia and Tremor: The Clinical Syndromes with Isolated Tremor

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Alberto Albanese

2016-04-01

Full Text Available Background: Dystonia and tremor share many commonalities. Isolated tremor is part of the phenomenological spectrum of isolated dystonia and of essential tremor. The occurrence of subtle features of dystonia may allow one to differentiate dystonic tremor from essential tremor. Diagnostic uncertainty is enhanced when no features of dystonia are found in patients with a tremor syndrome, raising the question whether the observed phenomenology is an incomplete form of dystonia. Methods: Known forms of syndromes with isolated tremor are reviewed. Diagnostic uncertainties between tremor and dystonia are put into perspective. Results: The following isolated tremor syndromes are reviewed: essential tremor, head tremor, voice tremor, jaw tremor, and upper-limb tremor. Their varied phenomenology is analyzed and appraised in the light of a possible relationship with dystonia. Discussion: Clinicians making a diagnosis of isolated tremor should remain vigilant for the detection of features of dystonia. This is in keeping with the recent view that isolated tremor may be an incomplete phenomenology of dystonia.

Dystonia and Tremor: The Clinical Syndromes with Isolated Tremor

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Albanese, Alberto; Sorbo, Francesca Del

2016-01-01

Background Dystonia and tremor share many commonalities. Isolated tremor is part of the phenomenological spectrum of isolated dystonia and of essential tremor. The occurrence of subtle features of dystonia may allow one to differentiate dystonic tremor from essential tremor. Diagnostic uncertainty is enhanced when no features of dystonia are found in patients with a tremor syndrome, raising the question whether the observed phenomenology is an incomplete form of dystonia. Methods Known forms of syndromes with isolated tremor are reviewed. Diagnostic uncertainties between tremor and dystonia are put into perspective. Results The following isolated tremor syndromes are reviewed: essential tremor, head tremor, voice tremor, jaw tremor, and upper-limb tremor. Their varied phenomenology is analyzed and appraised in the light of a possible relationship with dystonia. Discussion Clinicians making a diagnosis of isolated tremor should remain vigilant for the detection of features of dystonia. This is in keeping with the recent view that isolated tremor may be an incomplete phenomenology of dystonia. PMID:27152246

Polycystic ovary syndrome: clinical and laboratory evaluation

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Marcos Yorghi Khoury

Full Text Available OBJECTIVE: To evaluate clinically, and with laboratory, tests, women with polycystic ovary syndrome (PCO. PATIENTS: One hundred and twelve women with PCO were studied. METHODS: The following data was recorded: Current age; age at menarche; menstrual irregularity, occurrence of similar cases in the family; fertility, obstetric history; body mass index (BMI; and presence of hirsutism. Serum measurements of follicle stimulating hormone (FSH, luteinizing hormone (LH, prolactin, free testosterone, and dehydroepiandrosterone sulfate were taken. RESULTS: All patients presented either oligomenorrhea (31 percent, periods of secondary amenorrhea (9 percent, or both alterations (60 percent. The majority of the patients were infertile (75.6 percent. The LH/FSH ratio was higher than 2:1 in 55 percent of the patients and higher than 3:1 in 26.2 percent. The ultrasonographic aspect of the ovaries was considered to be normal in 31 percent. CONCLUSION: The main clinical feature of the PCO is the irregularity of menses since menarche, and that the laboratory tests would be important to exclude other disorders such as hyperprolactinemia or hyperandrogenemia caused by late-onset congenital adrenal hyperplasia.

[Asthma-COPD overlap syndrome].

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Odler, Balázs; Müller, Veronika

2016-08-01

Obstructive lung diseases represent a major health problem worldwide due to their high prevalence associated with elevated socioeconomic costs. Bronchial asthma and chronic obstructive pulmonary disease are chronic obstructive ventilatory disorders with airway inflammation, however they are separate nosological entities based on thedifferent development, diagnostic and therapeutic approaches, and prognostic features. However, these diseases may coexist and can be defined as the coexistence of increased variability of airflow in a patient with incompletely reversible airway obstruction. This phenotype is called asthma - chronic obstructive pulmonary disease overlap syndrome. The syndrome is a clinical and scientific challenge as the majority of these patients have been excluded from the clinical and pharmacological trials, thus well-defined clinical characteristics and therapeutic approaches are lacking. The aim of this review is to summarize the currently available literature focusing on pathophysiological and clinical features, and discuss possible therapeutic approaches of patients with asthma - chronic obstructive pulmonary disease overlap syndrome. Orv. Hetil., 2016, 157(33), 1304-1313.

Tourette Syndrome and Associated Features and the School Aged Child.

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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…

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.

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.

Clinical aspects of lower leg compartment syndrome

NARCIS (Netherlands)

Brand, Johan Gerard Henric van den

2004-01-01

A compartment syndrome is a condition in which increased pressure within a limited space compromises the circulation and function of tissues within that space. Although pathofysiology is roughly similar in chronic exertional and acute compartment syndrome of the lower leg, the clinical

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.)

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.)

Features of Onset and Clinical Course of Reactive Arthritis in Children

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I.S. Lebets

2013-09-01

Results. Reactive arthritis of chlamydial etiology is characterized by lesion of large and medium-sized joints of the lower limbs, which is often accompanied by short-term morning stiffness and rapid onset of transient hypomyatrophy. Reiter’s disease may develop rarely. Mycoplasma-induced reactive arthritis is characterized by debut with arthritis of knee, ankle, wrist and small joints of the hand, the development of bursitis and hypomyatrophy. Feature of Ureaplasma arthritis is the formation of bursitis in the heel and tendinitis. Reactive arthritis associated with elevated titers to antistreptolysin O differs with polymorphism of articular syndrome manifestations and, to some extent, of similarity with juvenile rheumatoid arthritis. Unspecified reactive arthritis has a number of the general features with others reactive arthritis and it is characterized by rather benign clinical course, long preservation of joints function and low laboratory activity. Relapse rate of reactive arthritis increases with an increase of duration of illness.

Clinical and laboratory features of patients of Vietnamese descent with systemic lupus erythematosus.

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Phan, J C; Bush, T M; Donald, F; Ward, M

1999-01-01

The prevalence rate and disease manifestations of systemic lupus erythematosus (SLE) have been noted to vary among different ethnic groups. There has been no description in the English literature of SLE in the Vietnamese population. This is the first report, which details the clinical and laboratory features as well as an estimation of the prevalence of SLE in patients with a Vietnamese ancestry living in the United States. We performed a retrospective chart review of clinical and laboratory features of patients of Vietnamese descent with SLE. The case finding was performed by a review of the rheumatology clinic records at two large teaching hospitals in Santa Clara County searching for patients with SLE with a Vietnamese surname. In addition, we recruited patients by contacting all of the rheumatologists practicing in the county. Twenty-three patients of Vietnamese descent were identified with SLE in Santa Clara County. The estimated prevalence of SLE in the patients of Vietnamese descent was 42 cases per 100 000 persons. Eighty-seven per cent of the cases were born in Vietnam. The clinical and laboratory features of SLE were similar to prior published reviews except for a relatively high prevalence of anti-RNP antibody (54%). The patients with anti-RNP antibody exhibited features of overlap syndrome. There was a high rate of exposure to tuberculosis (TB). Fifty-eight per cent of patients had a positive purified protein derivative (PPD) skin test and 27% of patients had a history of clinical TB. Forty-four per cent of patients had evidence of hepatitis B exposure. The prevalence of SLE in the Vietnamese population in Santa Clara County is similar to that of other Asian populations. There was a relatively high prevalence of anti-RNP antibody in our patient group which was associated with overlap features. As expected in an immigrant population from Southeast Asia, there was a high rate of prior exposure to tuberculosis and hepatitis B. Clinicians should diligently

A de-novo interstitial microduplication involving 2p16.1-p15 and mirroring 2p16.1-p15 microdeletion syndrome: Clinical and molecular analysis.

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Mimouni-Bloch, Aviva; Yeshaya, Josepha; Kahana, Sarit; Maya, Idit; Basel-Vanagaite, Lina

2015-11-01

Microdeletions of various sizes in the 2p16.1-p15 chromosomal region have been grouped together under the 2p16.1-p15 microdeletion syndrome. Children with this syndrome generally share certain features including microcephaly, developmental delay, facial dysmorphism, urogenital and skeletal abnormalities. We present a child with a de-novo interstitial 1665 kb duplication of 2p16.1-p15. Clinical features of this child are distinct from those of children with the 2p16.1-p15 microdeletion syndrome, specifically the head circumference which is within the normal range and mild intellectual disability with absence of autistic behaviors. Microduplications many times bear milder clinical phenotypes in comparison with corresponding microdeletion syndromes. Indeed, as compared to the microdeletion syndrome patients, the 2p16.1-p15 microduplication seems to have a milder cognitive effect and no effect on other body systems. Limited information available in genetic databases about cases with overlapping duplications indicates that they all have abnormal developmental phenotypes. The involvement of genes in this location including BCL11A, USP34 and PEX13, affecting fundamental developmental processes both within and outside the nervous system may explain the clinical features of the individual described in this report. Copyright © 2015 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

Clinical and Brain Magnetic Resonance Imaging Features in a Cohort of Chinese Patients with Kearns-Sayre Syndrome

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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.

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

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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

Clinical and Imaging Findings in Childhood Posterior Reversible Encephalopathy Syndrome

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GUNGOR, Serdal; KILIC, Betul; TABEL, Yilmaz; SELIMOGLU, Ayse; OZGEN, Unsal; YILMAZ, Sezai

2018-01-01

Objective Posterior reversible encephalopathy syndrome (PRES) is characterized by typical radiologic findings in the posterior regions of the cerebral hemispheres and cerebellum. The symptoms include headache, nausea, vomiting, visual disturbances, focal neurologic deficits, and seizures. The aim of this study is to evaluate the clinical and radiological features of PRES in children and to emphasize the recognition of atypical features. Materials & Methods We retrospectively examined 23 children with PRES from Mar 2010-Apr 2015 in Inonu University Turgut Ozal Medical Center in Turkey. We compared the clinical features and cranial MRI findings between underlying diseases of PRES. Results The most common precipitating factors were hypertension (78.2%) and medications, namely immunosuppressive and antineoplastic agents (60.8%). Manifestations included mental changes (100%), seizures (95.6%), headache (60.8%), and visual disturbances (21.7%) of mean 3.6 (range 1-10) days' duration. Cranial magnetic resonance imaging (MRI) showed bilateral occipital lesions in all patients, associated in 82.6% with less typical distribution of lesions in frontal, temporal or parietal lobes, cerebellum, corpus callosum, basal ganglia, thalamus, and brain stem. Frontal involvement was predominant, observed in 56.5% of patients. Clinical recovery was followed by radiologic resolution in all patients. Conclusion PRES is often unsuspected by the clinician, thus radiologists may be the first to suggest this diagnosis on an MRI obtained for seizures or encephalopathy. Atypical MRI finding is seen quite often. Rapid diagnosis and treatment are required to avoid a devastating outcome. PMID:29379559

Clinical, Electrophysiological, and Serological Evaluation of Patients with Cramp-Fasciculation Syndrome.

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Poyraz, Mürüvvet; Matur, Zeliha; Aysal, Fikret; Tüzün, Erdem; Hanoğlu, Lütfü; Öge, A Emre

2017-06-01

Cramp-fasciculation syndrome (CFS) is a rare peripheral nerve hyperexcitability syndrome. There are only a few reports on clinical and serological profile of a CFS cohort that was followed up by a single outpatient clinic. Clinical, electrophysiological, and serological features of 6 CFS patients (5 men, 1 woman; 27-65 years old) were investigated. All patients presented with cramps, fasciculations, muscle pain, and autonomic symptoms, and 2 also reported numbness and burning sensation in limbs, suggestive of neuropathic pain. Antibodies to uncharacterized voltage-gated potassium channel (VGKC)-complex proteins were found in 2 patients and to contactin-associated protein-like 2 (CASPR2) in 1 patient. None of the patients had a tumor. Most of the patients revealed prolonged after-discharges following tibial nerve stimulation. Nerve conduction studies and R-R interval variability tests were normal, whereas sympathetic skin responses were increased in amplitude in 3 seronegative patients. Five patients showed favorable response to carbamazepine or pregabalin treatment, whereas 1 VGKC-antibody-positive patient was resistant to carbamazepine and immunosuppressant treatment. Neuropathic pain and VGKC-complex antibodies may be encountered in CFS patients. Although autonomic symptoms are commonly found in CFS, routine autonomic system tests which are done in electrophysiology laboratories might yield normal results.

[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.

Clinical Characterization of Gastric Antral Vascular Ectasia: A Potential Manifestation of the Metabolic Syndrome.

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Smith, Elliot; Tekola, Bezawit; Patrie, James; Cornella, Scott; Caldwell, Stephen

2016-12-01

Gastric antral vascular ectasia is a relatively common endoscopic finding. Past studies have shown an association of gastric antral vascular ectasia with cirrhosis and autoimmune disorders. We aimed to re-examine these associations and to investigate a possible association of gastric antral vascular ectasia with features of the metabolic syndrome. There were 135 patients with a diagnosis of gastric antral vascular ectasia from years 1995-2013 seen at the University of Virginia who were identified from a clinical data repository and age and sex matched to a cohort of patients without gastric antral vascular ectasia undergoing endoscopy within the same time frame as the index cases. The groups were compared for comorbidities including autoimmune disease, cirrhosis, vascular disease, body mass index (BMI), diabetes mellitus, and cirrhosis due to nonalcoholic steatohepatitis. Sixty-four percent of gastric antral vascular ectasia patients were cirrhotic, compared with 14% of controls (P correlation of gastric antral vascular ectasia with features of metabolic syndrome such as diabetes, BMI, vascular disease, and nonalcoholic steatohepatitis cirrhosis. The pathophysiology of gastric antral vascular ectasia remains uncertain, but we speculate that it may be a manifestation of the metabolic syndrome. Copyright © 2016 Elsevier Inc. All rights reserved.

Metabolic syndrome pathophysiology and clinical presentation.

Science.gov (United States)

Handelsman, Yehuda

2009-01-01

Metabolic syndrome is a relatively new definition, designed to help the health care practitioner to easily identify people at risk for the development of cardiovascular disease and diabetes. With the obesity epidemic, we are witnessing an epidemic of multiple-risk patients. Insulin resistance is the perceived pathophysiology of metabolic syndrome and defines its clinical presentation. Hypertension, dyslipedemia, polycystic ovarian syndrome, fatty liver disease, pre-diabetes, sleep and breathing disorder, certain cancers, and cognitive impairment are many of the presentations of the syndrome; patients with any of these conditions are at a high risk of developing cardiovascular disease and diabetes. The metabolic syndrome helps identify people at risk to allow early intervention for prevention. Lifestyle modification is the most important part of the management of people with the syndrome. Lately medications--though none approved by the U.S. Food and Drug Administration (FDA)--have been recommended by major medical societies when lifestyle modification is not enough or when it fails.

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.

Comparison of clinical features between primary and drug-induced sleep-related eating disorder

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Komada Y

2016-05-01

Full Text Available Yoko Komada,1 Yoshikazu Takaesu,2 Kentaro Matsui,3 Masaki Nakamura,3 Shingo Nishida,3 Meri Kanno,3,† Akira Usui,3 Yuichi Inoue1,3 1Department of Somnology, 2Department of Psychiatry, Tokyo Medical University, 3Japan Somnology Center, Institute of Neuropsychiatry, Tokyo, Japan †Meri Kanno passed away on March 1, 2016 Purpose: The aim of this study was to ascertain the clinical characteristics of drug-induced sleep-related eating disorder (SRED. Patients and methods: We retrospectively reviewed the medical records of 30 patients with primary SRED (without any comorbid sleep disorders and who were not taking any possible causative medications, and ten patients with drug-induced SRED (occurrence of SRED episodes after starting nightly medication of sedative drugs, which completely resolved after dose reduction or discontinuation of the sedatives. Results: All patients with drug-induced SRED took multiple types of sedatives, such as benzodiazepines or benzodiazepine receptor agonists. Clinical features of drug-induced SRED compared with primary SRED were as follows: higher mean age of onset (40 years old in drug-induced SRED vs 26 years old in primary SRED, significantly higher rate of patients who had total amnesia during most of their SRED episodes (75.0% vs 31.8%, significantly lower rate of comorbidity of night eating syndrome (0% vs 63.3%, and significantly lower rate of history of sleepwalking (10.0% vs 46.7%. Increased doses of benzodiazepine receptor agonists may be responsible for drug-induced SRED. Conclusion: The clinical features of drug-induced SRED were different from those of primary SRED, possibly reflecting differences in the underlying mechanisms between these two categories of SREDs. Keywords: nocturnal eating syndrome, night eating, eating disorder, hypnotics, amnesia, sleepwalking, benzodiazepine

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

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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.

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

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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.

Clinical expression of Menkes syndrome in females

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Gerdes, A.-M.; Toennesen, T.; Horn, N.; Guettler, F. (The John F. Kennedy Institute, Glostrup (Denmark)); Grisar, T. (Hauptgesundheitsamt, Humangenetische Beratungsstelle, Zentralkrankenhaus, Bremen (Germany, F.R.)); Marg, W.; Mueller, A. (Prof. Hess Kinderklinik, Zentralkrankenhaus, Bremen (Germany, F.R.)); Reinsch, R. (Department of Obstetrics and Gynecology, Kaiser Permanente, San Diego, California (USA)); Barton, N.W. (Developmental and Metabolic Neurology Branch, IRP, NINCDS, NIH Bethesda, Maryland (USA)); Guiraud, P.; Richard, M.J. (Laboratoire de Biochimie C, CHRU Albert Michallon, Grenoble (France)); Joannard, A. (Clinique Medicale Infantile, CHRU Albert Michallon, Grenoble (France))

1990-01-01

Three female patients with Menkes syndrome are described. Clinically, they have typical Menkes syndrome. Biochemically, they have significantly increased {sup 64}Cu-uptake in cultured fibroblasts. The chromosomal analysis was normal for two of the patients and abnormal for one patient (45X/46XX mosaicism). (author).

Clinical expression of Menkes syndrome in females

International Nuclear Information System (INIS)

Gerdes, A.-M.; Toennesen, T.; Horn, N.; Guettler, F.; Grisar, T.; Marg, W.; Mueller, A.; Reinsch, R.; Barton, N.W.; Guiraud, P.; Richard, M.J.; Joannard, A.

1990-01-01

Three female patients with Menkes syndrome are described. Clinically, they have typical Menkes syndrome. Biochemically, they have significantly increased 64 Cu-uptake in cultured fibroblasts. The chromosomal analysis was normal for two of the patients and abnormal for one patient (45X/46XX mosaicism). (author)

Clinical features of delusional jealousy in elderly patients with dementia.

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Hashimoto, Mamoru; Sakamoto, Shinichi; Ikeda, Manabu

2015-06-01

Delusional jealousy is a psychotic syndrome characterized by a belief in the infidelity of one's spouse that reaches delusional intensity. Although delusional jealousy has been described in relation to organic psychosis, little is known concerning the actual role of delusional jealousy in dementia. The aim of the present study was to investigate the clinical features of delusional jealousy and possible mechanisms whereby delusional jealousy arises in patients with dementia. We studied 208 consecutive outpatients with dementia (diagnosis based on DSM-III-R criteria; mean [SD] age of 77.0 [8.0] years; study period: September 2011-August 2012). Delusional jealousy was defined as a false belief derived from a pathological jealousy that makes the patient believe that his or her spouse is unfaithful. The prevalence of delusional jealousy was compared between Alzheimer's disease, dementia with Lewy bodies, and vascular dementia. Patients with and without delusional jealousy were compared in terms of general characteristics. In addition, each patient with delusional jealousy and their primary caregivers were interviewed about the clinical features of the syndrome. Of the 208 patients with dementia, 18 (8.7%) showed delusional jealousy. The prevalence of delusional jealousy in patients who had dementia with Lewy bodies (26.3%) was significantly higher than that in patients with Alzheimer's disease (5.5%) (P jealousy in regard to gender (P = 1.00), age (P = .81), educational attainment (P = .29), presence of other persons living with the couple (P = .22), and Mini-Mental State Examination score (P = .47). On the other hand, delusional jealousy was preceded by the onset of serious physical diseases in nearly half of the patients. Delusional jealousy resolved within 12 months after treatment in 15 of 18 patients (83%). Although delusional jealousy is a considerable problem in dementia, the prognosis of delusional jealousy in demented patients appears to be relatively benign

Late-Onset Nephrotic Syndrome in Galloway-Mowat Syndrome: A Case Report

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Hazza Issa

1999-01-01

Full Text Available Galloway-Mowat Syndrome (GMS has a wide variety of clinical manifestations and histologic findings. All reported cases had developed nephrotic syndrome in the first two years of life. We report a case of 12 years old boy with microcephaly, mental retardation, and typical dysmorphic features of GMS with a late onset of minimal change nephritic syndrome which first manifested at seven years of age.

Polycystic ovary syndrome and metabolic syndrome.

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Ali, Aus Tariq

2015-08-01

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

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

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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.

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

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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.

Cerebro-fronto-facial syndrome type 3 with polymicrogyria: a clinical presentation of Baraitser-Winter syndrome.

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Eker, Hatice Koçak; Derinkuyu, Betül Emine; Ünal, Sevim; Masliah-Planchon, Julien; Drunat, Séverine; Verloes, Alain

2014-01-01

Baraitser-Winter syndrome (BRWS) is a rare condition affecting the development of the brain and the face. The most common characteristics are unusual facial appearance including hypertelorism and ptosis, ocular colobomas, hearing loss, impaired neuronal migration and intellectual disability. BRWS is caused by mutations in the ACTB and ACTG1 genes. Cerebro-fronto-facial syndrome (CFFS) is a clinically heterogeneous condition with distinct facial dysmorphism, and brain abnormalities. Three subtypes are identified. We report a female infant with striking facial features and brain anomalies (included polymicrogyria) that fit into the spectrum of the CFFS type 3 (CFFS3). She also had minor anomalies on her hands and feet, heart and kidney malformations, and recurrent infections. DNA investigations revealed c.586C>T mutation (p.Arg196Cys) in ACTB. This mutation places this patient in the spectrum of BRWS. The same mutation has been detected in a polymicrogyric patient reported previously in literature. We expand the malformation spectrum of BRWS/CFFS3, and present preliminary findings for phenotype-genotype correlation in this spectrum. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

Myoinositol combined with alpha-lipoic acid may improve the clinical and endocrine features of polycystic ovary syndrome through an insulin-independent action.

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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.

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

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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.

Prognosis of Cyclic Vomiting Syndrome

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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.

Radiological features of Lemierre's syndrome: A case report; Manifestaciones radiologicas del sindrome de Lemierre: a proposito de un caso

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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.

Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome.

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Meester, Josephina A N; Verstraeten, Aline; Schepers, Dorien; Alaerts, Maaike; Van Laer, Lut; Loeys, Bart L

2017-11-01

Many different heritable connective tissue disorders (HCTD) have been described over the past decades. These syndromes often affect the connective tissue of various organ systems, including heart, blood vessels, skin, joints, bone, eyes, and lungs. The discovery of these HCTD was followed by the identification of mutations in a wide range of genes encoding structural proteins, modifying enzymes, or components of the TGFβ-signaling pathway. Three typical examples of HCTD are Marfan syndrome (MFS), Ehlers-Danlos syndrome (EDS), and Loeys-Dietz syndrome (LDS). These syndromes show some degree of phenotypical overlap of cardiovascular, skeletal, and cutaneous features. MFS is typically characterized by cardiovascular, ocular, and skeletal manifestations and is caused by heterozygous mutations in FBN1 , coding for the extracellular matrix (ECM) protein fibrillin-1. The most common cardiovascular phenotype involves aortic aneurysm and dissection at the sinuses of Valsalva. LDS is caused by mutations in TGBR1/2 , SMAD2/3 , or TGFB2/3 , all coding for components of the TGFβ-signaling pathway. LDS can be distinguished from MFS by the unique presence of hypertelorism, bifid uvula or cleft palate, and widespread aortic and arterial aneurysm and tortuosity. Compared to MFS, LDS cardiovascular manifestations tend to be more severe. In contrast, no association is reported between LDS and the presence of ectopia lentis, a key distinguishing feature of MFS. Overlapping features between MFS and LDS include scoliosis, pes planus, anterior chest deformity, spontaneous pneumothorax, and dural ectasia. EDS refers to a group of clinically and genetically heterogeneous connective tissue disorders and all subtypes are characterized by variable abnormalities of skin, ligaments and joints, blood vessels, and internal organs. Typical presenting features include joint hypermobility, skin hyperextensibility, and tissue fragility. Up to one quarter of the EDS patients show aortic aneurysmal

Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome

Science.gov (United States)

Meester, Josephina A. N.; Verstraeten, Aline; Schepers, Dorien; Alaerts, Maaike; Van Laer, Lut

2017-01-01

Many different heritable connective tissue disorders (HCTD) have been described over the past decades. These syndromes often affect the connective tissue of various organ systems, including heart, blood vessels, skin, joints, bone, eyes, and lungs. The discovery of these HCTD was followed by the identification of mutations in a wide range of genes encoding structural proteins, modifying enzymes, or components of the TGFβ-signaling pathway. Three typical examples of HCTD are Marfan syndrome (MFS), Ehlers-Danlos syndrome (EDS), and Loeys-Dietz syndrome (LDS). These syndromes show some degree of phenotypical overlap of cardiovascular, skeletal, and cutaneous features. MFS is typically characterized by cardiovascular, ocular, and skeletal manifestations and is caused by heterozygous mutations in FBN1, coding for the extracellular matrix (ECM) protein fibrillin-1. The most common cardiovascular phenotype involves aortic aneurysm and dissection at the sinuses of Valsalva. LDS is caused by mutations in TGBR1/2, SMAD2/3, or TGFB2/3, all coding for components of the TGFβ-signaling pathway. LDS can be distinguished from MFS by the unique presence of hypertelorism, bifid uvula or cleft palate, and widespread aortic and arterial aneurysm and tortuosity. Compared to MFS, LDS cardiovascular manifestations tend to be more severe. In contrast, no association is reported between LDS and the presence of ectopia lentis, a key distinguishing feature of MFS. Overlapping features between MFS and LDS include scoliosis, pes planus, anterior chest deformity, spontaneous pneumothorax, and dural ectasia. EDS refers to a group of clinically and genetically heterogeneous connective tissue disorders and all subtypes are characterized by variable abnormalities of skin, ligaments and joints, blood vessels, and internal organs. Typical presenting features include joint hypermobility, skin hyperextensibility, and tissue fragility. Up to one quarter of the EDS patients show aortic aneurysmal

Clinical profile and outcomes of acute cardiorenal syndrome type-5 in sepsis: An eight-year cohort study.

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Vallabhajosyula, Saraschandra; Sakhuja, Ankit; Geske, Jeffrey B; Kumar, Mukesh; Kashyap, Rahul; Kashani, Kianoush; Jentzer, Jacob C

2018-01-01

To evaluate the clinical features and outcomes of acute cardiorenal syndrome type-5 in patients with severe sepsis and septic shock. Historical cohort study of all adult patients with severe sepsis and septic shock admitted to the intensive care units (ICU) at Mayo Clinic Rochester from January 1, 2007 through December 31, 2014. Patients with prior renal or cardiac dysfunction were excluded. Patients were divided into groups with and without cardiorenal syndrome type-5. Acute Kidney Injury (AKI) was defined by both serum creatinine and urine output criteria of the AKI Network and the cardiac injury was determined by troponin-T levels. Outcomes included in-hospital mortality, ICU and hospital length of stay, and one-year survival. Of 602 patients meeting the study inclusion criteria, 430 (71.4%) met criteria for acute cardiorenal syndrome type-5. Patients with cardiorenal syndrome type-5 had higher severity of illness, greater vasopressor and mechanical ventilation use. Cardiorenal syndrome type-5 was associated higher unadjusted in-hospital mortality, ICU and hospital lengths of stay, and lower one-year survival. When adjusted for age, gender, severity of illness and mechanical ventilation, cardiorenal syndrome type-5 was independently associated with 1.7-times greater odds of in-hospital mortality (p = .03), but did not predict one-year survival (p = .06) compared to patients without cardiorenal syndrome. In sepsis, acute cardiorenal syndrome type-5 is associated with worse in-hospital mortality compared to patients without cardiorenal syndrome.

Noonan syndrome

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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...

Clinical features of neuromuscular disorders in patients with N-type voltage-gated calcium channel antibodies

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Andreas Totzeck

2016-09-01

Full Text Available Neuromuscular junction disorders affect the pre- or postsynaptic nerve to muscle transmission due to autoimmune antibodies. Members of the group like myasthenia gravis and Lambert-Eaton syndrome have pathophysiologically distinct characteristics. However, in practice, distinction may be difficult. We present a series of three patients with a myasthenic syndrome, dropped-head syndrome, bulbar and respiratory muscle weakness and positive testing for anti-N-type voltage-gated calcium channel antibodies. In two cases anti-acetylcholin receptor antibodies were elevated, anti-P/Q-type voltage-gated calcium channel antibodies were negative. All patients initially responded to pyridostigmine with a non-response in the course of the disease. While one patient recovered well after treatment with intravenous immunoglobulins, 3,4-diaminopyridine, steroids and later on immunosuppression with mycophenolate mofetil, a second died after restriction of treatment due to unfavorable cancer diagnosis, the third patient declined treatment. Although new antibodies causing neuromuscular disorders were discovered, clinical distinction has not yet been made. Our patients showed features of pre- and postsynaptic myasthenic syndrome as well as severe dropped-head syndrome and bulbar and axial muscle weakness, but only anti-N-type voltage-gated calcium channel antibodies were positive. When administered, one patient benefited from 3,4-diaminopyridine. We suggest that this overlap-syndrome should be considered especially in patients with assumed seronegative myasthenia gravis and lack of improvement under standard therapy.

Clinical and Molecular Genetic Analysis in Three Children with Wolfram Syndrome: A Novel WFS1 Mutation (c.2534T>A).

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Çelmeli, Gamze; Türkkahraman, Doğa; Çürek, Yusuf; Houghton, Jayne; Akçurin, Sema; Bircan, İffet

2017-03-01

Wolfram syndrome (WS) is an autosomal recessive disorder caused by mutations in WFS1 gene. The clinical features include diabetes insipidus, diabetes mellitus (DM), optic atrophy, deafness, and other variable clinical manifestations. In this paper, we present the clinical and genetic characteristics of 3 WS patients from 3 unrelated Turkish families. Clinical characteristics of the patients and the age of onset of symptoms were quite different in each pedigree. The first two cases developed all symptoms of the disease in their first decade of life. The heterozygous father of case 2 was symptomatic with bilateral deafness. The first ocular finding of one patient (patient 3) was bilateral cataract which was accompanying DM as a first feature of the syndrome. In this patient's family, there were two members with features suggestive of WS. Previously known homozygous mutations, c.460+1G>A in intron 4 and c.1885C>T in exon 8, were identified in these cases. A novel homozygous c.2534T>A mutation was also detected in the exon 8 of WFS1 gene. Because of the rarity and heterogeneity of WS, detection of specific and nonspecific clinical signs including ocular findings and family history in non-autoimmune, insulinopenic diabetes cases should lead to a tentative diagnosis of WS. Genetic testing is required to confirm the diagnosis.

Posterior reversible encephalopathy syndrome in liver transplant patients: clinical presentation, risk factors and initial management.

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Cruz, R J; DiMartini, A; Akhavanheidari, M; Iacovoni, N; Boardman, J F; Donaldson, J; Humar, A; Bartynski, W S

2012-08-01

Posterior reversible encephalopathy syndrome (PRES) is an uncommon but well-known complication after transplantation diagnosed by characteristic radiological features. As limited data on this complex syndrome exist we sought to better define the incidence, clinical presentation and risk factors for PRES in liver transplant (LTx) patients. We conducted a retrospective analysis of 1923 adult LTx recipients transplanted between 2000 and 2010. PRES was diagnosed radiologically in 19 patients (1%), with 84% of cases occurring within 3 months post-LTX. We compared this cohort of PRES patients to 316 other LTx recipients also requiring radiographic imaging within 3 months after LTx for neurological symptoms. Seizure was the most common clinical manifestation in the PRES group (88% vs. 16%, pliver disease and infection/sepsis. These factors may be related to a common pathway of vascular dysregulation/damage that appears to characterize this complex syndrome. Intracranial bleeding and seizures may be the end result of these phenomena. The relationship of these associated factors to the hypothesized pathophysiology of PRES is discussed. © Copyright 2012 The American Society of Transplantation and the American Society of Transplant Surgeons.

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

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

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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.

DRESS syndrome with thrombotic microangiopathy revealing a Noonan syndrome

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Bobot, Mickaël; Coen, Matteo; Simon, Clémentine; Daniel, Laurent; Habib, Gilbert; Serratrice, Jacques

2018-01-01

Abstract Rationale: The life-threatening drug rash with eosinophilia and systemic symptoms (DRESS) syndrome occurs most commonly after exposure to drugs, clinical features mimic those found with other serious systemic disorders. It is rarely associated with thrombotic microangiopathy. Patient concerns: We describe the unique case of a 44-year-old man who simultaneously experienced DRESS syndrome with thrombotic microangiopathy (TMA) after a 5 days treatment with fluindione. Diagnoses: Clinical evaluation leads to the discovery of an underlying lymphangiomatosis, due to a Noonan syndrome. Intervetions: The anticoagulant was withdrawn, and corticosteroids (1 mg/kg/day) and acenocoumarol were started. Outcomes: Clinical improvement ensued. At follow-up the patient is well. Lessons: The association of DRESS with TMA is a rare condition; we believe that the presence of the underlying Noonan syndrome could have been the trigger. Moreover, we speculate about the potential interrelations between these entities. PMID:29642153

PHACE syndrome: MRI of intracerebral vascular anomalies and clinical findings in a series of 12 patients

International Nuclear Information System (INIS)

Bracken, Jennifer; Robinson, Ian; Snow, Aisling; Rea, David; Phelan, Ethna; Watson, Rosemarie; Irvine, Alan D.

2011-01-01

PHACE (posterior fossa defects, haemangioma, arterial anomalies, coarctation of the aorta and cardiac defects, eye abnormalities) syndrome describes a constellation of abnormalities that can occur in association with segmental craniofacial infantile haemangioma. To report the spectrum of clinical and imaging abnormalities seen in a cohort of children. A retrospective review of the clinical and imaging records of all patients diagnosed with PHACE syndrome between 1998 and 2009 was performed. Information sought included patient demographics, craniofacial segments involved, imaging findings and other extracutaneous abnormalities. Twelve patients were diagnosed with PHACE syndrome over 11 years. All patients had a segmental craniofacial haemangioma. Involved facial segments, in order of frequency, were frontotemporal (12), maxillary (8), mandibular (5) and frontonasal (1). The most common extracutaneous abnormalities were neurovascular anomalies (10), with many patients having multiple anomalies. The spectrum of arterial anomalies ranged from hypoplasia (9) to ectasia (3), anomalous origin/course (2) and persistent fetal anastomosis (2). Other anomalies found included cardiac anomalies (3), coarctation of the aorta (2), posterior fossa malformations (1) and sternal region anomalies (1). Intracranial anomalies are the most common extracutaneous feature of PHACE syndrome. The contribution of the radiologist in the recognition of such anomalies is important for the diagnosis of PHACE syndrome. (orig.)

PHACE syndrome: MRI of intracerebral vascular anomalies and clinical findings in a series of 12 patients

Energy Technology Data Exchange (ETDEWEB)

Bracken, Jennifer; Robinson, Ian; Snow, Aisling; Rea, David; Phelan, Ethna [Our Lady' s Children' s Hospital, Department of Radiology, Dublin (Ireland); Watson, Rosemarie; Irvine, Alan D. [Our Lady' s Children' s Hospital, Department of Dermatology, Dublin (Ireland)

2011-09-15

PHACE (posterior fossa defects, haemangioma, arterial anomalies, coarctation of the aorta and cardiac defects, eye abnormalities) syndrome describes a constellation of abnormalities that can occur in association with segmental craniofacial infantile haemangioma. To report the spectrum of clinical and imaging abnormalities seen in a cohort of children. A retrospective review of the clinical and imaging records of all patients diagnosed with PHACE syndrome between 1998 and 2009 was performed. Information sought included patient demographics, craniofacial segments involved, imaging findings and other extracutaneous abnormalities. Twelve patients were diagnosed with PHACE syndrome over 11 years. All patients had a segmental craniofacial haemangioma. Involved facial segments, in order of frequency, were frontotemporal (12), maxillary (8), mandibular (5) and frontonasal (1). The most common extracutaneous abnormalities were neurovascular anomalies (10), with many patients having multiple anomalies. The spectrum of arterial anomalies ranged from hypoplasia (9) to ectasia (3), anomalous origin/course (2) and persistent fetal anastomosis (2). Other anomalies found included cardiac anomalies (3), coarctation of the aorta (2), posterior fossa malformations (1) and sternal region anomalies (1). Intracranial anomalies are the most common extracutaneous feature of PHACE syndrome. The contribution of the radiologist in the recognition of such anomalies is important for the diagnosis of PHACE syndrome. (orig.)

PHACE syndrome: MRI of intracerebral vascular anomalies and clinical findings in a series of 12 patients.

LENUS (Irish Health Repository)

Bracken, Jennifer

2012-02-01

BACKGROUND: PHACE (posterior fossa defects, haemangioma, arterial anomalies, coarctation of the aorta and cardiac defects, eye abnormalities) syndrome describes a constellation of abnormalities that can occur in association with segmental craniofacial infantile haemangioma. OBJECTIVE: To report the spectrum of clinical and imaging abnormalities seen in a cohort of children. MATERIALS AND METHODS: A retrospective review of the clinical and imaging records of all patients diagnosed with PHACE syndrome between 1998 and 2009 was performed. Information sought included patient demographics, craniofacial segments involved, imaging findings and other extracutaneous abnormalities. RESULTS: Twelve patients were diagnosed with PHACE syndrome over 11 years. All patients had a segmental craniofacial haemangioma. Involved facial segments, in order of frequency, were frontotemporal (12), maxillary (8), mandibular (5) and frontonasal (1). The most common extracutaneous abnormalities were neurovascular anomalies (10), with many patients having multiple anomalies. The spectrum of arterial anomalies ranged from hypoplasia (9) to ectasia (3), anomalous origin\\/course (2) and persistent fetal anastomosis (2). Other anomalies found included cardiac anomalies (3), coarctation of the aorta (2), posterior fossa malformations (1) and sternal region anomalies (1). CONCLUSION: Intracranial anomalies are the most common extracutaneous feature of PHACE syndrome. The contribution of the radiologist in the recognition of such anomalies is important for the diagnosis of PHACE syndrome.

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.

A clinical study of mentally retarded children with fragile X syndrome inSaudi Arabia

International Nuclear Information System (INIS)

Al-Husain, M.; Salih, Mustafa A.M.; Zaki, Osama K.; Al-Othman, L.; Al-Nasser, Mohammed N.

2000-01-01

Studies on fragile X syndrome are scarce in Saudi Arabia and othercountries of the Arabian Peninsula. The few studies previously done haveeither been in the form of case reports or those performed oninstitutionalized mentally retarded patients. The aim of this study was todetermine the prevalence of fragile X syndrome among cases with mentalretardation who have been referred to the pediatric neurology clinics of KingKhalid University Hospital (KKUH) in Riyadh. Cytogenetic studies wereperformed in 94 cases that were referred to the pediatric neurology clinicsof KKUH because of mental retardation and/or delayed milestones ofdevelopment, from July 1995 to December 1997. Six male probands (6.4%) showedthe classic fragile X chromosome and another six (including a four year oldgirl) were detected, following extension of the cytogenetic studies to all 32first-degree relatives. Affection of more than one sibling was ascertained infour families. One family had four brothers with fragile X syndrome, whereasanother formed part of a large kindred with twelve males and five females whowere mentally retarded. A clinical, physical and psychological screeningchecklist was applied to the eleven affected males. Large testicular size,long face and short attention span were the most frequent features and eachwas detected in nine patients (82%). Pes planus and history of delayed speechwere found in eight patients (73%). The study showed that the fragile Xsyndrome clinical screening checklist has been applied in other populationsmight equally valuable and applicable among the population of Saudi Arabia.However, the presence of pale blue eyes can be excluded and more weight givento positive family history of mental to the most common clinical diagnosticfeatures of fragile X syndrome. (author)

[Long QT syndrome. History, genetics, clinical symptoms, causes and therapy].

Science.gov (United States)

Krönauer, T; Friederich, P

2015-08-01

The long QT syndrome is caused by a change in cardiac repolarization due to functional ion channel defects. A differentiation is made between a congenital (cLQTS) and an acquired (aLQTS) form of the disease. The disease results in the name-giving prolongation of the QT interval in the electrocardiogram and represents a predisposition for cardiac arrhythmia and sudden cardiac death. This article summarizes the current knowledge on the history, pathophysiology, clinical symptoms and therapy of cLQTS and aLQTS. This knowledge of pathophysiological features of the symptoms allows the underlying anesthesiological approach for individualized perioperative concepts for patients suffering from LQTS to be derived.

HYPERPHAGIA REACTIONS WITHIN EATING DISORDERS. CLINICAL FEATURES AND THERAPY

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O. A. Gladyshev

2014-01-01

Full Text Available Aim. To evaluate clinical features of hyperphagia reactions, their significance in attraction abnormities within eating disorders and treatment options for these conditions with escitalopram.Material and methods. Mental state of 39 women (age 19-50 years with psychogenic overeating and obesity (body mass index of 30 to 53 kg/m2 was studied. Patients were admitted to the Institute of Nutrition of the Russian Academy of Medical Sciences. Diagnostic criteria for International Classification of Diseases, 10th edition, as well as Eating Disorder Inventory (EDI, Hospital Anxiety and Depression Scale (HADS and Ferreri Anxiety Rating Diagram (FARD were used for syndrome qualifications. Patient Global Impression of Change was also studied using a 4-point scale of results (excellent, good, fair, and negative.Results. Clinical features of hyperphagic reactions were found. Escitalopram treatment course was completed with excellent and good results in 80% of patients. 50%-reduction in HADS score for anxiety was found in 74% of patients, for depression – in 63%, and for Ferreri scale – in 68% of patients. Escitalopram promoted more intensive body weight loss: 11% vs 8% of baseline weight in active and control groups, respectively. Adverse events occurred only in 7 (36% patients; they were transient and did not require therapy discontinuation.Conclusion: Significant differences of premanifest disorders were often observed in patients history. Escitalopram in these patients showed efficacy in improvement of both mental and somatic symptoms of anxiety. It decreased dependence on food as a factor mitigating affect and stress, thus provided better results in body weight reduction.

HYPERPHAGIA REACTIONS WITHIN EATING DISORDERS. CLINICAL FEATURES AND THERAPY

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O. A. Gladyshev

2015-09-01

Full Text Available Aim. To evaluate clinical features of hyperphagia reactions, their significance in attraction abnormities within eating disorders and treatment options for these conditions with escitalopram.Material and methods. Mental state of 39 women (age 19-50 years with psychogenic overeating and obesity (body mass index of 30 to 53 kg/m2 was studied. Patients were admitted to the Institute of Nutrition of the Russian Academy of Medical Sciences. Diagnostic criteria for International Classification of Diseases, 10th edition, as well as Eating Disorder Inventory (EDI, Hospital Anxiety and Depression Scale (HADS and Ferreri Anxiety Rating Diagram (FARD were used for syndrome qualifications. Patient Global Impression of Change was also studied using a 4-point scale of results (excellent, good, fair, and negative.Results. Clinical features of hyperphagic reactions were found. Escitalopram treatment course was completed with excellent and good results in 80% of patients. 50%-reduction in HADS score for anxiety was found in 74% of patients, for depression – in 63%, and for Ferreri scale – in 68% of patients. Escitalopram promoted more intensive body weight loss: 11% vs 8% of baseline weight in active and control groups, respectively. Adverse events occurred only in 7 (36% patients; they were transient and did not require therapy discontinuation.Conclusion: Significant differences of premanifest disorders were often observed in patients history. Escitalopram in these patients showed efficacy in improvement of both mental and somatic symptoms of anxiety. It decreased dependence on food as a factor mitigating affect and stress, thus provided better results in body weight reduction.

Syndromic classification of rickettsioses: an approach for clinical practice

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Álvaro A. Faccini-Martínez

2014-11-01

Full Text Available Rickettsioses share common clinical manifestations, such as fever, malaise, exanthema, the presence or absence of an inoculation eschar, and lymphadenopathy. Some of these manifestations can be suggestive of certain species of Rickettsia infection. Nevertheless none of these manifestations are pathognomonic, and direct diagnostic methods to confirm the involved species are always required. A syndrome is a set of signs and symptoms that characterizes a disease with many etiologies or causes. This situation is applicable to rickettsioses, where different species can cause similar clinical presentations. We propose a syndromic classification for these diseases: exanthematic rickettsiosis syndrome with a low probability of inoculation eschar and rickettsiosis syndrome with a probability of inoculation eschar and their variants. In doing so, we take into account the clinical manifestations, the geographic origin, and the possible vector involved, in order to provide a guide for physicians of the most probable etiological agent.

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...

[Clinical and pathogenetic features of esophageal spasm].

Science.gov (United States)

Firsova, L D; Pichugina, I M; Yanova, O B; Berezina, O I; Bordin, D S

2015-01-01

To comparatively analyze clinical manifestations in patients with primary esophageal spasm (ES) and its concurrence with gastroesophageal reflux disease (GERD) and the results of their instrumental examinations and psychodiagnostic tests. A total of 104 patients with the clinical and manometric signs of ES were examined and divided into two groups: 1) 42 patients with primary ES; 2) 62 patients with ES concurrent with GERD. The examination encompassed esophageal manometry, esophagogastroduodenoscopy, 24-hour pH metry, and an interview using a questionnaire to identify autonomic disorders, and the Mini-Mult test. The patients with primary ES compared to those with ES concurrent with GERD significantly more frequently showed severe pain syndrome (p = 0.009) and a paradoxical dysphagia pattern (p = 0.03); manometry revealed an incoordination in the motility of the entire esophagus (p = 0.001). Comparison of the statistical series of values for contraction amplitude and duration in the distal esophagus found no significant difference in the patients of both groups. Autonomic disturbances were detected in 76.0% of the patients with ES; but the intergroup differences were insignificant. Mental maladaptation was observed in 81.7% of the patients in the absence of intergroup differences. The etiopathogenetic factor of ES is a psychoautonomic response to chronic stress in both primary ES and its concurrence with GERD. The reflux of gastric contents into the esophagus does not appear to be one of the leading causes of ES. In primary ES, esophageal motor function is generally impaired to a much greater extent than that in ES concurrent with GERD. The degree of motor disorders is embodied in the specific clinical features of the disease.

Clinical presentation of Attenuated Psychosis Syndrome in children and adolescents: Is there an age effect?

Science.gov (United States)

Ribolsi, Michele; Lin, Ashleigh; Wardenaar, Klaas J; Pontillo, Maria; Mazzone, Luigi; Vicari, Stefano; Armando, Marco

2017-06-01

There is limited research on clinical features related to age of presentation of the Attenuated Psychosis Syndrome in children and adolescents (CAD). Based on findings in CAD with psychosis, we hypothesized that an older age at presentation of Attenuated Psychosis Syndrome would be associated with less severe symptoms and better psychosocial functioning than presentation in childhood or younger adolescence. Ninety-four CAD (age 9-18) meeting Attenuated Psychosis Syndrome criteria participated in the study. The sample was divided and compared according to the age of presentation of Attenuated Psychosis Syndrome (9-14 vs 15-18 years). The predictive value of age of Attenuated Psychosis Syndrome presentation was investigated using receiver operating characteristic (ROC)-curve calculations. The two Attenuated Psychosis Syndrome groups were homogeneous in terms of gender distribution, IQ scores and comorbid diagnoses. Older Attenuated Psychosis Syndrome patients showed better functioning and lower depressive scores. ROC curves revealed that severity of functional impairment was best predicted using an age of presentation cut-off of 14.9 years for social functioning and 15.9 years for role functioning. This study partially confirmed our hypothesis; older age at presentation of Attenuated Psychosis Syndrome was associated with less functional impairment, but age was not associated with psychotic symptoms. Copyright © 2017 Elsevier Ireland Ltd. All rights reserved.

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

[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.

DRESS syndrome with thrombotic microangiopathy revealing a Noonan syndrome: Case report.

Science.gov (United States)

Bobot, Mickaël; Coen, Matteo; Simon, Clémentine; Daniel, Laurent; Habib, Gilbert; Serratrice, Jacques

2018-04-01

The life-threatening drug rash with eosinophilia and systemic symptoms (DRESS) syndrome occurs most commonly after exposure to drugs, clinical features mimic those found with other serious systemic disorders. It is rarely associated with thrombotic microangiopathy. We describe the unique case of a 44-year-old man who simultaneously experienced DRESS syndrome with thrombotic microangiopathy (TMA) after a 5 days treatment with fluindione. Clinical evaluation leads to the discovery of an underlying lymphangiomatosis, due to a Noonan syndrome. The anticoagulant was withdrawn, and corticosteroids (1 mg/kg/day) and acenocoumarol were started. Clinical improvement ensued. At follow-up the patient is well. The association of DRESS with TMA is a rare condition; we believe that the presence of the underlying Noonan syndrome could have been the trigger. Moreover, we speculate about the potential interrelations between these entities.

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

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V.V. Ischuk,

2017-08-01

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

Clinical and metabolic characteristics of Turkish adolescents with polycystic ovary syndrome.

Science.gov (United States)

Ates, Seda; Aydın, Serdar; Ozcan, Pinar; Soyman, Zeynep; Gokmen Karasu, Ayse Filiz; Sevket, Osman

2018-02-01

The aim of this study was to investigate the clinical, endocrine, metabolic features and prevalence of metabolic syndrome (MBS) in Turkish adolescents with polycystic ovary syndrome (PCOS) and the differences in metabolic parameters between adolescent PCOS with or without the presence of polycystic ovaries (PCO) on ultrasound. Subjects (n = 77) were classified into two groups: oligomenorrhea (O) and clinical and/or biochemical hyperandrogenism (HA) (n = 38), without PCO and O + HA with PCO (n = 39). The control group consisted of 33 age-matched adolescents. Adolescents with PCOS had a significantly higher body mass index (BMI), waist circumference and levels of LH, LH/FSH ratio, triglyceride, insulin, HOMA-IR, free androgen index and lower levels of SHBG and FSH. After adjustment for BMI, LH, LH: FSH ratio remained significantly higher. Adolescents with PCOS had a higher prevalence of MBS. No significant differences in lipid profiles, insulin levels and insulin sensitivity in both the PCOS groups were seen. HDL-C levels were lower in the O + HA + PCO group compared to the controls. BMI may be the major contributing factor in the development of metabolic abnormalities in adolescents with PCOS. Impact statement Many studies have investigated the effect of PCOS on metabolic and cardiovascular risks. It is thought that PCOS increases metabolic and cardiovascular risks. Increase in metabolic and cardiovascular risks associated with PCOS may be handled with early diagnosis and early intervention of PCOS in adolescents, although the diagnosis of PCOS in adolescents could be hard because of the features of PCOS overlapping normal pubertal physiological events. However, early identification of adolescent girls with PCOS may provide opportunities for prevention of well-known health risks associated with this syndrome and reduction of long-term health consequences of PCOS by reducing androgen levels and improving metabolic profile. Our results also

Clinical Manifestations of the Opiate Withdrawal Syndrome

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Faniya Shigakova

2015-09-01

Full Text Available Currently, substance abuse is one of the most serious problems facing our society. The aim of this study was to investigate the clinical manifestations of the opiate withdrawal syndrome (OWS. The study included 112 patients (57 women and 55 men aged from 18 to 64 years with opium addiction according to the DSM-IV. To study the clinical manifestation of OWS, the special 25-score scale with four sections to assess severity of sleep disorders, pain syndrome, autonomic disorders, and affective symptoms was used. Given the diversity of the OWS symptoms, attention was focused on three clinical variants, affective, algic and mixed. The OWS affective variant was registered more frequently in women, while the mixed type of OWS was more typical of men.

Temporomandibular joint dysfunction syndrome. A clinical report.

Science.gov (United States)

Passero, P L; Wyman, B S; Bell, J W; Hirschey, S A; Schlosser, W S

1985-08-01

We have presented two clinical case reports of patients with TMJ dysfunction syndrome as an example of coordinated treatments between dentists and physical therapists. The clinical profiles of these patients with craniocervical pain were compiled from comprehensive physical therapy and dental-orthopedic evaluations. The significance of the relationship between the rest position of the mandible and forward head posture has been shown by the changes observed after correction of the postural deviations and vertical resting dimensions by dental treatments and physical therapy. Additional research is necessary to determine long-term effects of this combined approach in TMJ dysfunction syndrome.

A CLINICAL STUDY OF HELLP SYNDROME

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Irrinki Vasundhara Jyothi

2017-01-01

Full Text Available BACKGROUND HELLP syndrome is an acronym for Haemolysis (H, Elevated Liver Enzymes (EL and Low Platelet (LP. This is a rare complication of preeclampsia (10-15%. HELLP syndrome may develop even without hypertension. This syndrome is manifested by nausea, vomiting, epigastric or right upper quadrant pain along with haematological changes. Parenchymal necrosis of liver causes elevation in hepatic enzymes (AST and ALT >70 IU/L, LDH >600 IU/L and bilirubin (>1.2 mg/dL. There may be subcapsular haematoma formation (which is diagnosed by CT scanning and abnormal peripheral blood smear. Eventually, liver may rupture to cause sudden hypotension due to haemoperitoneum. Periportal haemorrhagic necrosis of the liver occurs due to thrombosis of the arterioles. The necrosis is seen at the periphery of the lobule. There may be subcapsular haemorrhage. Hepatic insufficiency seldom occurs because of the capacity and regenerative ability of liver cells. Liver function tests are especially abnormal in women with HELLP syndrome. A sincere effort has been put to study the HELLP syndrome incidence and its clinical prognosis and to understand its outcome. MATERIALS AND METHODS Forty patients were selected whose BP was recorded more than 140/80 mmHg after twenty weeks of gestation. Peripheral smear were taken to check for haemolysis or elevated indirect bilirubin or elevated LDH levels were checked, elevated liver enzymes and decreased platelet count <1,00,000/cumm was noted. Incidence of HELLP syndrome was found and various clinical features presented and the complications faced by the patients were recorded. Prompt treatment was given and the outcome of the disease was noted. All the statistical analysis was done using the latest SPSS software 2015 (California. RESULTS The mean age of the study group was found to be 26.72 years with a standard deviation of 5.62 years. In our study, the mean haemoglobin level was found to be 6.41 gm%, which is very low compared to the

Diagnosis of Polycystic Ovary Syndrome: AMH in combination with clinical symptoms.

Science.gov (United States)

Sahmay, Sezai; Aydin, Yavuz; Oncul, Mahmut; Senturk, Levent M

2014-02-01

We assessed the utility of using anti-Müllerian hormone (AMH) and clinical features of polycystic ovary syndrome (PCOS), polycystic ovarian morphology (PCOM), oligo/amenorrhea (OA), and hyperandrogenism (HA) for diagnosing PCOS, and compared their diagnostic accuracy with those of classical diagnostic systems. A total of 606 females were admitted to a university hospital with menstrual irregularities or symptoms of hyperandrogenism were enrolled in this cross-sectional study. Fasting blood samples were collected. Pelvic and/or abdominal ultrasonography and clinical examination were performed. Patients were evaluated for the presence of PCOS according to conventional diagnostic criteria. The diagnostic performance of using serum AMH levels alone and in various combinations with the clinical features of PCOM, OA, and HA were investigated. For the diagnosis of PCOS, the combination of OA and/or HA with AMH showed 83% sensitivity and 100% specificity according to the Rotterdam criteria; 83% sensitivity and 89% specificity according to the National Institutes of Health (NIH) criteria; and 82% sensitivity and 93.5% specificity according to the Androgen Excess Society (AES) criteria. The serum AMH level is a useful diagnostic marker for PCOS and is correlated with conventional diagnostic criteria. The combination of AMH level with OA and/or HA markedly increased the clinical scope for PCOS diagnosis and can be introduced as a possible objective criterion for the diagnosis of this disease.

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

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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.

Clinical and Ultrasonographic Evaluation of Lower-extremity Vein Thrombosis in Behcet Syndrome

Science.gov (United States)

Seyahi, Emire; Cakmak, Osman Serdal; Tutar, Burcin; Arslan, Caner; Dikici, Atilla Suleyman; Sut, Necdet; Kantarci, Fatih; Tuzun, Hasan; Melikoglu, Melike; Yazici, Hasan

2015-01-01

Abstract Vascular involvement can be seen in up to 40% of patients with Behcet syndrome (BS), the lower-extremity vein thrombosis (LEVT) being the most common type. The aim of the current study was to compare venous Doppler findings and clinical features between BS patients with LEVT and control patients diagnosed as having LEVT due to other causes. All consecutive 78 patients (71 men, 7 women; mean age 38.6 ± 10.3 years) with LEVT due to BS and 50 control patients (29 men, 21 women; mean age 42.0 ± 12.5 years) who had LEVT due to other causes, or idiopathic, were studied with the help of a Doppler ultrasonography after a detailed clinical examination. Patterns of venous disease were identified by cluster analyses. Clinical features of chronic venous disease were assessed using 2 classification systems. Venous claudication was also assessed. Patients with BS were more likely to be men, had significantly earlier age of onset of thrombosis, and were treated mainly with immunosuppressives and less frequently with anticoagulants. Furthermore, they had significantly more bilateral involvement, less complete recanalization, and more frequent collateral formation. While control patients had a disorganized pattern of venous involvement, BS patients had a contiguous and symmetric pattern, involving all deep and superficial veins of the lower extremities, with less affinity for crural veins. Clinical assessment, as measured by the 2 classification systems, also indicated a more severe disease among the BS patients. In line, 51% of the BS patients suffered from severe post-thrombotic syndrome (PTS) and 32% from venous claudication, whereas these were present in 8% and 12%, respectively, among the controls. Among BS patients, a longer duration of thrombosis, bilateral femoral vein involvement, and using no anticoagulation along with immunosuppressive treatment when first diagnosed were found to be associated independently with severe PTS. Lower-extremity vein

Senior-loken syndrome in a Saudi child

International Nuclear Information System (INIS)

Al-Fadhel, M.; Al-Amir, A.

2008-01-01

Senior-loken syndrome is a rare syndrome of retinopathy and nephronophthisis. The clinical features of this syndrome include renal involvement, ocular involvement, retinitis pigmentosa and other systemic involvement. We describe an 11- year-old Saudi girl who was diagnosed to have this syndrome. To the best of our knowledge, this is the first report of this syndrome from Arabian Peninsula. (author)

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)....

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

A novel small deletion in the NHS gene associated with Nance-Horan syndrome.

Science.gov (United States)

Li, Huajin; Yang, Lizhu; Sun, Zixi; Yuan, Zhisheng; Wu, Shijing; Sui, Ruifang

2018-02-05

Nance-Horan syndrome is a rare X-linked recessive inherited disease with clinical features including severe bilateral congenital cataracts, characteristic facial and dental abnormalities. Data from Chinese Nance-Horan syndrome patients are limited. We assessed the clinical manifestations of a Chinese Nance-Horan syndrome pedigree and identified the genetic defect. Genetic analysis showed that 3 affected males carried a novel small deletion in NHS gene, c.263_266delCGTC (p.Ala89TrpfsTer106), and 2 female carriers were heterozygous for the same variant. All 3 affected males presented with typical Nance-Horan syndrome features. One female carrier displayed lens opacities centered on the posterior Y-suture in both eyes, as well as mild dental abnormalities. We recorded the clinical features of a Chinese Nance-Horan syndrome family and broadened the spectrum of mutations in the NHS gene.

H Syndrome: A case report and review of literature

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Dilip Meena

2018-01-01

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

H Syndrome: A Case Report and Review of Literature

Science.gov (United States)

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

2018-01-01

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

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.

Antiphospholipid Syndrome Clinical Research Task Force Report

NARCIS (Netherlands)

Erkan, D.; Derksen, R.; Levy, R.; Machin, S.; Ortel, T.; Pierangeli, S.; Roubey, R.; Lockshin, M.

The Antiphospholipid Syndrome (APS) Clinical Research Task Force (CRTF) was one of six Task Forces developed by the 13(th) International Congress on Antiphospholipid Antibodies (aPL) organization committee with the purpose of: a) evaluating the limitations of APS clinical research and developing

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)...

Adult onset Leigh syndrome

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Pandit Lekha

2007-01-01

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

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.

Cognitive impairment, clinical severity and MRI changes in MELAS syndrome.

Science.gov (United States)

Kraya, Torsten; Neumann, Lena; Paelecke-Habermann, Yvonne; Deschauer, Marcus; Stoevesandt, Dietrich; Zierz, Stephan; Watzke, Stefan

2017-12-29

To examine clinical severity, cognitive impairment, and MRI changes in patients with MELAS syndrome. Cognitive-mnestic functions, brain MRI (lesion load, cella media index) and clinical severity of ten patients with MELAS syndrome were examined. All patients carried the m.3243A>G mutation. The detailed neuropsychological assessment revealed cognitive deficits in attention, executive function, visuoperception, and -construction. There were significant correlations between these cognitive changes, lesion load in MRI, disturbances in everyday life (clinical scale), and high scores in NMDAS. Patients with MELAS syndrome showed no global neuropsychological deficit, but rather distinct cognitive deficits. Copyright © 2018 Elsevier B.V. and Mitochondria Research Society. All rights reserved.

Senior-Loken Syndrome in a Saudi Child

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AlFadhel Majid

2008-01-01

Full Text Available Senior-Loken syndrome is a rare syndrome of retinopathy and nephrono-phthisis. The clinical features of this syndrome include renal involvement, ocular involve-ment, retinitis pigmentosa and other systemic involvement. We describe an 11-year-old Saudi girl who was diagnosed to have this syndrome. To the best of our knowledge, this is the first report of this syndrome from the Arabian Peninsula.

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

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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

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

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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.

Acute flaccid paraparesis (cauda equina syndrome) in a patient with Bardet–Biedl syndrome

Science.gov (United States)

Viswanathan, Vibhu Krishnan; Kanna, Rishi Mugesh; Shetty, Ajoy Prasad; Rajasekaran, S

2017-01-01

Bardet–Biedl syndrome (BBS) is a rare, autosomal-recessive, debilitating genetic disorder, which can present with multitudinous systemic clinical features including rod-cone dystrophy, polydactyly, Frohlich-like central obesity, mental retardation, hypogonadism, and renal anomalies. Diverse neuromuscular manifestations in patients afflicted by this heterogeneous disorder include ataxia, cervical, and thoracic canal stenoses, presenting as spastic quadriparesis and other gait disturbances. We report a young patient with BBS, who had presented with acute flaccid paraparesis due to severe primary lumbar canal stenosis. She underwent immediate lumbar decompression and discectomy following which she recovered significantly. Acute cauda equina syndrome due to primary lumbar canal stenosis has not been reported as a clinical feature of BBS previously. PMID:28566787

Pathophysiology and Japanese clinical characteristics in Marfan syndrome.

Science.gov (United States)

Fujita, Daishi; Takeda, Norifumi; Imai, Yasushi; Inuzuka, Ryo; Komuro, Issei; Hirata, Yasunobu

2014-08-01

Marfan syndrome is an autosomal dominant heritable disorder of the connective tissue, caused by mutations of the gene FBN1, which encodes fibrillin-1, a major component of the microfibrils of the extracellular matrix. Fibrillin-1 interacts with transforming growth factor-β (TGF-β), and dysregulated TGF-β signaling plays a major role in the development of connective tissue disease and familial aortic aneurysm and dissection, including Marfan syndrome. Losartan, an angiotensin II blocker, has the potential to reduce TGF-β signaling and is expected to be an additional therapeutic option. Clinical diagnosis is made using the Ghent nosology, which requires comprehensive patient assessment and has been proven to work well, but evaluation of some of the diagnostic criteria by a single physician is difficult and time-consuming. A Marfan clinic was established at the University of Tokyo Hospital in 2005, together with cardiologists, cardiac surgeons, pediatricians, orthopedists, and ophthalmologists in one place, for the purpose of speedy and accurate evaluation and diagnosis of Marfan syndrome. In this review, we discuss the recent progress in diagnosis and treatment of Marfan syndrome, and the characteristics of Japanese patients with Marfan syndrome. © 2014 Japan Pediatric Society.

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...

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)

Identification of Chinese medicine syndromes in persistent insomnia associated with major depressive disorder: a latent tree analysis.

Science.gov (United States)

Yeung, Wing-Fai; Chung, Ka-Fai; Zhang, Nevin Lian-Wen; Zhang, Shi Ping; Yung, Kam-Ping; Chen, Pei-Xian; Ho, Yan-Yee

2016-01-01

Chinese medicine (CM) syndrome (zheng) differentiation is based on the co-occurrence of CM manifestation profiles, such as signs and symptoms, and pulse and tongue features. Insomnia is a symptom that frequently occurs in major depressive disorder despite adequate antidepressant treatment. This study aims to identify co-occurrence patterns in participants with persistent insomnia and major depressive disorder from clinical feature data using latent tree analysis, and to compare the latent variables with relevant CM syndromes. One hundred and forty-two participants with persistent insomnia and a history of major depressive disorder completed a standardized checklist (the Chinese Medicine Insomnia Symptom Checklist) specially developed for CM syndrome classification of insomnia. The checklist covers symptoms and signs, including tongue and pulse features. The clinical features assessed by the checklist were analyzed using Lantern software. CM practitioners with relevant experience compared the clinical feature variables under each latent variable with reference to relevant CM syndromes, based on a previous review of CM syndromes. The symptom data were analyzed to build the latent tree model and the model with the highest Bayes information criterion score was regarded as the best model. This model contained 18 latent variables, each of which divided participants into two clusters. Six clusters represented more than 50 % of the sample. The clinical feature co-occurrence patterns of these six clusters were interpreted as the CM syndromes Liver qi stagnation transforming into fire, Liver fire flaming upward, Stomach disharmony, Hyperactivity of fire due to yin deficiency, Heart-kidney noninteraction, and Qi deficiency of the heart and gallbladder. The clinical feature variables that contributed significant cumulative information coverage (at least 95 %) were identified. Latent tree model analysis on a sample of depressed participants with insomnia revealed 13 clinical

Hypereosinophilic syndrome: Clinical, laboratory, and imaging manifestations in patients with hepatic involvement

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Kim, Gi Beom; Lee, Jong Min; Sung, Yeong Soon; Kang, Duk Sik [Kyungpook Natioanl University College of Medicine, Daegu (Korea, Republic of); Kim, Ok Hwoa [Dongkang general Hospital, Ulsan (Korea, Republic of)

1993-07-15

The hypereosinophilic syndrome (HES) commonly involves liver and spleen but only a few literature has reported the imaging features. In this article, we present the imaging features of the liver and spleen in HES patients together with clinical and laboratory features. This study included 5 HES patients with hepatic involvement. Extensive laboratory tests including multiple hematologic, serologic, parasitological, and immunologic examinations were performed. Imaging studies included CT, ultrasound (US)of upper abdomen and hepatosplenic scintigraphy. All patients were periodically examined by laboratory and imaging studies for 4 to 24 months. The common clinical presentations were weakness, mild fever, and dry cough. All patients revealed leukocytosis with eosinophilia of 40 to 80% and benign eosinophilic hyperplasia of the bone marrow. The percutaneous biopsy of the hepatic focal lesions performed in 2 patients showed numerous benigin eosinophilic infiltrates and one of them revealed combined calibration necrosis of hepatocytes. All cases revealed hepatomegaly with multiple focal lesions on at least on of CT, US, or scintigraphy. These findings completely disappeared in 2 to 6 months following medication of corticosteroid or antihistamines. The HES involved the liver and CT, US, or scintigraphic studies showed hepatic multifocal lesions with hepatomegaly. Differential diagnosis of these findings should include metastatic disease, lymphoma, leukemia, candidiasis or other opportunistic infections.

Hypereosinophilic syndrome: Clinical, laboratory, and imaging manifestations in patients with hepatic involvement

International Nuclear Information System (INIS)

Kim, Gi Beom; Lee, Jong Min; Sung, Yeong Soon; Kang, Duk Sik; Kim, Ok Hwoa

1993-01-01

The hypereosinophilic syndrome (HES) commonly involves liver and spleen but only a few literature has reported the imaging features. In this article, we present the imaging features of the liver and spleen in HES patients together with clinical and laboratory features. This study included 5 HES patients with hepatic involvement. Extensive laboratory tests including multiple hematologic, serologic, parasitological, and immunologic examinations were performed. Imaging studies included CT, ultrasound (US)of upper abdomen and hepatosplenic scintigraphy. All patients were periodically examined by laboratory and imaging studies for 4 to 24 months. The common clinical presentations were weakness, mild fever, and dry cough. All patients revealed leukocytosis with eosinophilia of 40 to 80% and benign eosinophilic hyperplasia of the bone marrow. The percutaneous biopsy of the hepatic focal lesions performed in 2 patients showed numerous benigin eosinophilic infiltrates and one of them revealed combined calibration necrosis of hepatocytes. All cases revealed hepatomegaly with multiple focal lesions on at least on of CT, US, or scintigraphy. These findings completely disappeared in 2 to 6 months following medication of corticosteroid or antihistamines. The HES involved the liver and CT, US, or scintigraphic studies showed hepatic multifocal lesions with hepatomegaly. Differential diagnosis of these findings should include metastatic disease, lymphoma, leukemia, candidiasis or other opportunistic infections

A case of Balint syndrome: the importance of a specific neuropsychological appraisal in the clinical diagnosis of visuospatial disorders

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Giuseppe Caravaglios

2015-11-01

Full Text Available Balint syndrome is characterized by a severe disturbance of visual spatial analysis including impaired oculomotor behaviour, optic ataxia, and simultanagnosia. The complete syndrome is relatively rare, and partial syndromes have been reported more frequently. The present study aims to describe a case of Balint syndrome who displayed all the three main neuropsychological features as a consequence of infarction in the watershed between the anterior and posterior cerebral artery territories. In this case report three days post stroke the clinical assessment showed a severe impairment in several visual spatial tasks (e.g. reading, writing, description of a visual scene, voluntary gaze-shift. Twelve weeks post-stroke the clinical assessment showed a significant improvement in reading, writing, as well as in verbal delayed recall processes, but only a mild improvement in visual spatial tasks like the description of a complex visual scene was registered. Balint’s syndrome is rare and is not easy to assess with standard clinical tools. The classical neurological examination evaluates in detail the senses, motility, balance, and to some extent language, but, sometimes, it is much less concerned with cognitive functions. The case discussed here is a good example of the need to emphasize that an acutely ill patient should also be accurately evaluated for the presence of cognitive and behavioural disturbances.

Clinical features and multidisciplinary approaches to dementia care

Directory of Open Access Journals (Sweden)

Gr

2011-05-01

Full Text Available Jacob HG Grand¹, Sienna Caspar², Stuart WS MacDonald11Department of Psychology, University of Victoria, Victoria, BC, Canada; 2Interdisciplinary Graduate Studies, University of British Columbia, Vancouver, BC, CanadaAbstract: Dementia is a clinical syndrome of widespread progressive deterioration of cognitive abilities and normal daily functioning. These cognitive and behavioral impairments pose considerable challenges to individuals with dementia, along with their family members and caregivers. Four primary dementia classifications have been defined according to clinical and research criteria: 1 Alzheimer’s disease; 2 vascular dementias; 3 frontotemporal dementias; and 4 dementia with Lewy bodies/Parkinson’s disease dementia. The cumulative efforts of multidisciplinary healthcare teams have advanced our understanding of dementia beyond basic descriptions, towards a more complete elucidation of risk factors, clinical symptoms, and neuropathological correlates. The characterization of disease subtypes has facilitated targeted management strategies, advanced treatments, and symptomatic care for individuals affected by dementia. This review briefly summarizes the current state of knowledge and directions of dementia research and clinical practice. We provide a description of the risk factors, clinical presentation, and differential diagnosis of dementia. A summary of multidisciplinary team approaches to dementia care is outlined, including management strategies for the treatment of cognitive impairments, functional deficits, and behavioral and psychological symptoms of dementia. The needs of individuals with dementia are extensive, often requiring care beyond traditional bounds of medical practice, including pharmacologic and non-pharmacologic management interventions. Finally, advanced research on the early prodromal phase of dementia is reviewed, with a focus on change-point models, trajectories of cognitive change, and threshold models of

Clinical characteristics of the asthma-COPD overlap syndrome--a systematic review

DEFF Research Database (Denmark)

Nielsen, Mia; Bårnes, Camilla Boslev; Ulrik, Charlotte Suppli

2015-01-01

BACKGROUND AND OBJECTIVE: In recent years, the so-called asthma-chronic obstructive pulmonary disease (COPD) overlap syndrome (ACOS) has received much attention, not least because elderly individuals may present characteristics suggesting a diagnosis of both asthma and COPD. At present, ACOS...... is described clinically as persistent airflow limitation combined with features of both asthma and COPD. The aim of this paper is, therefore, to review the currently available literature focusing on symptoms and clinical characteristics of patients regarded as having ACOS. METHODS: Based on the preferred......% predicted and FEV1/FVC ratio in spite of lower mean life-time tobacco exposure. Furthermore, studies have revealed that ACOS patients seem to have not only more frequent but also more severe exacerbations. Comorbidity, not least diabetes, has also been reported in a few studies, with a higher prevalence...

Blind loop syndrome

Science.gov (United States)

... this page: //medlineplus.gov/ency/article/001146.htm Blind loop syndrome To use the sharing features on ... Clinical Professor of Medicine, The George Washington University School of Medicine, Washington, DC. Also reviewed by David ...

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.

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.

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

Science.gov (United States)

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

2016-01-01

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

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

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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.

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

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

Science.gov (United States)

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

2011-12-01

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

DOORS Syndrome: Phenotype, Genotype and Comparison With Coffin-Siris Syndrome

NARCIS (Netherlands)

Campeau, Philippe M.; Hennekam, Raoul C.; Aftimos, Salim; Banka, Siddharth; Begleiter, Michael L.; Bilo, Leonilda; Blair, Edward; Burrage, Lindsay C.; Liu, David S.; de Bie, Isabelle; Félix, Têmis Maria; Giltay, Jacques C.; Gibbs, Richard A.; Giuliano, Fabienne; Hadzsiev, Kinga; Hori, Mutsuki; Kariminejad, Ariana; Kayserili, Hülya; Kerr, Bronwyn; Lee, Brendan H.; Lu, James T.; Male, Alison; Meenakshi, Girish; Mey, Antje; Murray, Mitzi L.; Nair, Lal D. V.; Nampoothiri, Sheela; Newman, William G.; Peluso, Silvio; Peters, Heidi; Powell, R.; Repetto, Gabriela M.; Rump, Patrick; Santos-Simarro, Fernando; Stewart, Fiona; van Bever, Yolande; van den Ende, Jenneke; Wieczorek, Dagmar; Wisniewska, Marzena; Sisodiya, Sanjay M.

2014-01-01

DOORS syndrome (Deafness, Onychodystrophy, Osteodystrophy, mental Retardation, Seizures) is characterized mainly by sensorineural deafness, shortened terminal phalanges with small nails of hands and feet, intellectual deficiency, and seizures. Half of the patients with all clinical features have

Prediction of polycystic ovarian syndrome based on ultrasound findings and clinical parameters.

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Moschos, Elysia; Twickler, Diane M

2015-03-01

To determine the accuracy of sonographic-diagnosed polycystic ovaries and clinical parameters in predicting polycystic ovarian syndrome. Medical records and ultrasounds of 151 women with sonographically diagnosed polycystic ovaries were reviewed. Sonographic criteria for polycystic ovaries were based on 2003 Rotterdam European Society of Human Reproduction and Embryology/American Society for Reproductive Medicine guidelines: at least one ovary with 12 or more follicles measuring 2-9 mm and/or increased ovarian volume >10 cm(3) . Clinical variables of age, gravidity, ethnicity, body mass index, and sonographic indication were collected. One hundred thirty-five patients had final outcomes (presence/absence of polycystic ovarian syndrome). Polycystic ovarian syndrome was diagnosed if a patient had at least one other of the following two criteria: oligo/chronic anovulation and/or clinical/biochemical hyperandrogenism. A logistic regression model was constructed using stepwise selection to identify variables significantly associated with polycystic ovarian syndrome (p polycystic ovaries and 115 (89.8%) had polycystic ovarian syndrome (p = .009). Lower gravidity, abnormal bleeding, and body mass index >33 were significant in predicting polycystic ovarian syndrome (receiver operating characteristics curve, c = 0.86). Pain decreased the likelihood of polycystic ovarian syndrome. Polycystic ovaries on ultrasound were sensitive in predicting polycystic ovarian syndrome. Ultrasound, combined with clinical parameters, can be used to generate a predictive index for polycystic ovarian syndrome. © 2014 Wiley Periodicals, Inc.

Stendhal syndrome: a clinical and historical overview.

Science.gov (United States)

Palacios-Sánchez, Leonardo; Botero-Meneses, Juan Sebastián; Pachón, Rocío Plazas; Hernández, Laura Bibiana Pineros; Triana-Melo, Juanita Del Pilar; Ramírez-Rodríguez, Santiago

2018-02-01

It could be argued that one of the few unifying qualities all human beings share is the ability to appreciate beauty. While the object of beauty may change from one person to another, the awe and the thrill experienced by an enthralled beholder remains the same. Sometimes, this experience can be so overwhelming it can bring someone to the edge of existence. A very rare condition, known as aesthetic syndrome and, more commonly, Stendhal syndrome, entails a clinical phenomenon in which the presence of a beautiful piece of work or architecture causes dysautonomic symptoms such as tachycardia, diaphoresis, chest pains and loss of consciousness. We present an historical and clinical review of this condition.

Biochemical and clinical profiles of 52 Tunisian patients affected by Zellweger syndrome

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Fahmi Nasrallah

2017-12-01

Full Text Available Background: Zellweger syndrome (ZS is a peroxisome biogenesis disorder attributed to a mutation of the PEX genes family. The incidence of this disease in Africa and the Arab world remains unknown. This contribution is aimed at describing the clinical phenotype and biochemical features in Tunisian patients with ZS in order to improve the detection and management of this severe disorder. Methods: A total of 52 patients diagnosed with ZS and 60 age- and sex-matched healthy controls were included in this study. Patients were recruited during the past 21 years, and the diagnosis of ZS was based on clinical and biochemical characteristics. Plasma very long chain fatty acids (VLCFA were analyzed using capillary gas chromatography. The estimated incidence of ZS was calculated using the Hardy–Weinberg formula. Results: The estimated incidence of ZS is 1/15,898 in Tunisia. Age at diagnosis varied between 3 days and 18 months. Severe neurological syndrome, polymalformative features, and hepatodigestive signs were observed in 100%, 67.9%, and 32% of patients, respectively. Values for plasma C26:0 and C26:0/C22:0 and C24:0/C22:0 ratios were noticeably higher in ZS patients than in controls. Distributions of values were completely different for C26:0 (0.10–0.37 vs. 0.001–0.009, C26:0/C22:0 ratio (0.11–1.29 vs. 0.003–0.090, and C24:0/C22:0 ratio (1.03–3.18 vs. 0.4–0.90 in ZS patients versus controls, respectively. Conclusions: This study highlights the high incidence of ZS in Tunisia and the possibility of simple and reliable biochemical diagnosis, thus permitting early genetic counseling for families at risk. Key Words: gas chromatography, hypotonia, peroxisomal disorder, very long chain fatty acids, Zellweger syndrome

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

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Pedro de Sousa Gomes

2012-03-01

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

Clinical Features of Pregnancy-associated Retinal and Choroidal Diseases Causing Acute Visual Disturbance.

Science.gov (United States)

Park, Young Joo; Park, Kyu Hyung; Woo, Se Joon

2017-08-01

To report clinical features of patients with retinal and choroidal diseases presenting with acute visual disturbance during pregnancy. In this retrospective case series, patients who developed acute visual loss during pregnancy (including puerperium) and visited a tertiary hospital from July 2007 to June 2015, were recruited by searching electronic medical records. Patients were categorized according to the cause of visual loss. Clinical features and required diagnostic modalities were analyzed in the retinal and choroidal disease group. Acute visual loss occurred in 147 patients; 49 (38.9%) were classified into the retinal and choroidal group. The diagnoses included central serous chorioretinopathy (22.4%), hypertensive retinopathy with or without pre-eclampsia (22.4%), retinal tear with or without retinal detachment (18.4%), diabetic retinopathy progression (10.2%), Vogt-Koyanagi-Harada disease (4.1%), retinal artery occlusion (4.1%), multiple evanescent white dot syndrome (4.1%), and others (14.3%). Visual symptoms first appeared at gestational age 25.9 ± 10.3 weeks. The initial best-corrected visual acuity (BCVA) was 0.27 ± 0.39 logarithm of the minimum angle of resolution (logMAR); the final BCVA after delivery improved to 0.13 ± 0.35 logMAR. Serious visual deterioration (BCVA worth than 20 / 200) developed in two patients. Differential diagnoses were established with characteristic fundus and spectral-domain optical coherence tomography findings in all cases. In pregnant women with acute visual loss, retinal and choroidal diseases are common and could be vision threatening. Physicians should be aware of pregnancy-associated retinal and choroidal diseases and their clinical features. The differential diagnosis can be established with non-invasive techniques. © 2017 The Korean Ophthalmological Society

Clinical and MRI features in pediatric multiple sclerosis

International Nuclear Information System (INIS)

Zhao Cailei; Xie Sheng; Xiao Jiangxi; Wang Shuang

2011-01-01

Objective: To investigate the clinical and MRI features of multiple sclerosis in children, including the clinically isolated syndrome (CIS) and relapse. Methods: In total, 16 cases of pediatric multiple sclerosis were included in this study. Of them, 11 patients were female and 5 were male, with the mean onset age of 10.1 years. They were followed up for 4 months to 7 years and found to have 1- 5 relapses. The clinical manifestations of CIS and relapse were analyzed by a pediatric neurologist. An experienced neuroradiologist reviewed the MRI images of CIS and relapse. Information on the location, size, and pattern of the lesions was gathered. The location of lesions included subcortical, central, and periventricular white matter, cortex, deep gray matter, brain stem, and cerebellum. Results: CIS episode presented acute onsets in 13/16 cases, with symptoms of cortices in 10 cases and visual impairment in 6 cases. Relapse occurred in 14/16 cases within one year. The incidence of symptoms of cortices was less frequent and severe in the second episode of MS, whereas the visual impairment had a high incidence. All patients had full recovery after the last episode. MRI of CIS showed confluent subcortical white matter lesions in 13/16 cases, abutting on central white matter lesions. The most frequently involved brain part was the frontal lobe, followed by the parietal lobe. Cortical involvement was observed in 9/16 cases. In 6 cases, periventricular white matter lesions were detected. Bilateral deep gray matter was abnormal in 4 cases. Other abnormalities included brain stem lesions in 5 cases, cerebellum lesions in 3 cases, optic nerve involvement in 3 cases, and pyramidal tract lesions in 2 cases. MRI of relapse revealed more small lesions in the subcortical and periventricular white matter in the patients. In the second episode, only 2 cases presented cortical involvement. Lesions were found in the brain stem in 4 cases and in the cerebellum in 5 cases. Pyramidal tract

Clinical and genetic characteristics in a group of 45 patients with Turner syndrome (monocentric study).

Science.gov (United States)

Bucerzan, Simona; Miclea, Diana; Popp, Radu; Alkhzouz, Camelia; Lazea, Cecilia; Pop, Ioan Victor; Grigorescu-Sido, Paula

2017-01-01

Recent years have seen a shift in perspective on Turner syndrome, as it is no longer considered a significant disability due to therapeutic advances. The delay of diagnosis and the underdiagnosis are common in Turner syndrome, especially because of the great phenotypic variability and lack of firm diagnostic criteria. Our first aim was to assess the clinical and the cytogenetic characteristics and growth rate in growth hormone (GH)-treated patients as compared to those with spontaneous growth. The second aim was to analyze the Y chromosomal sequences. We analyzed 45 patients diagnosed with Turner syndrome in Genetic Pathology Centre of Cluj Emergency Children's Hospital. We carried out a study of the clinical features, the correlations between the karyotype and the phenotype, and we also made a research of Y chromosome sequences. The average age at diagnosis was 8.9±5.4 years. A significant association was observed between the number of external phenotypical abnormalities and internal malformations ( r =0.45), particularly the cardiovascular ones ( r =0.44). Patients treated with GH showed improvement in growth rate, with final stature significantly better than in untreated patients; benefits following treatment were greater if diagnosis was made before the age of 5 years. Thirteen percent of patients experienced spontaneous and complete puberty, whereas 30% experienced incomplete puberty. Patients with the 45,X genotype had a greater stature deficit and a higher incidence of cardiac malformations, compared with patients with 45,X/46,XX mosaic karyotype. Y chromosome sequences were found in only one patient, who subsequently underwent gonadectomy. The importance of this study resides, to the best of our knowledge, in the fact that the largest group of patients in Romania was analyzed and assessed. To draw firm conclusions on the most valuable clinical indicators for Turner syndrome diagnosis in clinical practice, studies on large groups of patients should be

Meier-Gorlin syndrome

NARCIS (Netherlands)

Munnik, S.A. de; Hoefsloot, E.H.; Roukema, J.; Schoots, J.; Knoers, N.V.A.M.; Brunner, H.G.; Jackson, A.P.; Bongers, E.M.H.F.

2015-01-01

Meier-Gorlin syndrome (MGS) is a rare autosomal recessive primordial dwarfism disorder, characterized by microtia, patellar applasia/hypoplasia, and a proportionate short stature. Associated clinical features encompass feeding problems, congenital pulmonary emphysema, mammary hypoplasia in females

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.

Clinicopathological Features and Management of Cancers in Lynch Syndrome

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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.

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...

Kabuki Syndrome: a case report with severe ocular abnormalities

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Flavio Mac Cord Medina

2013-10-01

Full Text Available Kabuki syndrome is a rare congenital anomaly, characterized by five fundamental features, the "Pentad of Niikawa": dysmorphic facies, skeletal anomalies, dermatoglyphic abnormalities, mild to moderate mental retardation and postnatal growth deficiency. Patients present characteristic external ocular features, nonetheless they may also present significant ocular abnormalities. We report a case of a brazilian child diagnosed with Kabuki syndrome, addressing the clinical features observed, with emphasis on the ocular manifestations. This case highlights the existence of this syndrome and all of its complexity. The identification of preventable causes of loss of vision underlines the value of detailed ophthalmologic examination of Kabuki syndrome patients.

Peutz-Jehgers syndrome (A case report)

International Nuclear Information System (INIS)

Kim, Byoung Geun; Park, Heung Il; Kwun, Chung Sik

1974-01-01

This is a report of rare case of Peutz-Jehgers syndrome in a 13 years old boys with chief complaints of melena and intermittent abdominal pain since 3 years of age. He has multiple small melanin pigmentations in the face, lower lip, and left buccal mucosa and numerous small and large polyps in the stomach, jejunum, ileum, colon, and rectum by roentgenologic studies. Hereditary features, mucocutaneous pigmentations, clinical manifestations, pathologic features, roentgen features, and differential diagnosis, and treatment of Peutz-Jehgers syndrome are discussed with a review of the literature

Peutz-Jehgers syndrome (A case report)

Energy Technology Data Exchange (ETDEWEB)

Kim, Byoung Geun; Park, Heung Il; Kwun, Chung Sik [Chonnam University School of Medicine, Kwangju (Korea, Republic of)

1974-10-15

This is a report of rare case of Peutz-Jehgers syndrome in a 13 years old boys with chief complaints of melena and intermittent abdominal pain since 3 years of age. He has multiple small melanin pigmentations in the face, lower lip, and left buccal mucosa and numerous small and large polyps in the stomach, jejunum, ileum, colon, and rectum by roentgenologic studies. Hereditary features, mucocutaneous pigmentations, clinical manifestations, pathologic features, roentgen features, and differential diagnosis, and treatment of Peutz-Jehgers syndrome are discussed with a review of the literature.

Different Outcome of Goodpasture Syndrome

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Ristovska Vesna

2016-06-01

Full Text Available Goodpasture syndrome is a rare autoimmune disease, with significant morbidity and mortality in young people and otherwise healthy population. Complete disease remission is possible with prompt diagnosis and treatment. We report 3 cases with Goodpasture syndrome treated at the Department of Nephrology, University Clinic of Nephrology, with different outcome. All of the patients were with similar clinical feature, with renal failure that needed treatment with hemodialysis. But results of the treatment with plasmapheresis indicate that this procedure reduces morbidity in patients with Goodpasture syndrome. The clinical course and the outcome of the disease were different. The disease is unpredictable, and the early diagnosis and start with the treatment is important for the remission.

Clinical heterogeneity in a family with DKC1 mutation, dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome in first cousins

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Cristina Olivieri

2017-10-01

Full Text Available Dyskeratosis congenita (DC is an inherited bone marrow failure disorder characterized by mucocutaneous features (skin pigmentation, nail dystrophy and oral leukoplakia, pulmonary fibrosis, hematologic and solid malignancies. Its severe form, recognized as Hoyeraal-Hreidarsson syndrome (HHS, also includes cerebellar hypoplasia, microcephaly, developmental delay and prenatal growth retardation. In literature phenotypic variability among DC patients sharing the same mutation is wellknown. To our knowledge this report describes for the first time a family of DC patients, characterized by a member with features of classic DC and another one with some features of HHS, both with the same mutation in DKC1. Our family confirms again that one mutation can be associated with different phenotypes and different hematological manifestations. It’s possible to speculate that there are likely to be patients who do not clinically fit neatly into either classical DC or HHS, but whose clinical features are due to mutations in DKC1 or in genes responsible for autosomal DC/HHS.

Noonans syndrom kan diagnosticere sklinisk og molekylærgenetisk

DEFF Research Database (Denmark)

Krab Henningsen, Marie; Jelsig, Anne Marie; Andersen, Helle

2015-01-01

Noonan syndrome is part of the group of RASopathies caused by germ line mutations in genes involved in the RAS/MAPK pathway. There is substantial phenotypic overlap among the RASopathies. Diagnosis of Noonan syndrome is often based on clinical features including dysmorphic facial features, short...... stature and congenital heart disease. Rapid advances in sequencing technology have made molecular genetic analyses a helpful tool in diagnosing and distinguishing Noonan syndrome from other RASopathies....

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.

Presentation and clinical course of Wolfram (DIDMOAD) syndrome from North India.

Science.gov (United States)

Ganie, M A; Laway, B A; Nisar, S; Wani, M M; Khurana, M L; Ahmad, F; Ahmed, S; Gupta, P; Ali, I; Shabir, I; Shadan, A; Ahmed, A; Tufail, S

2011-11-01

Wolfram syndrome, also known as DIDMOAD, is a relatively rare inherited neurodegenerative disorder, first evident in childhood as an association of juvenile-onset diabetes mellitus and optic atrophy, followed by diabetes insipidus and deafness. The aim of the study was to examine the clinical profile of patients with DIDMOAD syndrome presenting to a tertiary care hospital in north India. Clinical presentation of juvenile-onset diabetes mellitus fulfilling the diagnosis of Wolfram syndrome was studied using a prepared standardized form. Subjects with juvenile-onset non-autoimmune diabetes mellitus attending the diabetic clinic at a tertiary care centre in north India were followed for 10 years and a diagnosis of fully developed Wolfram syndrome was confirmed in seven individuals. The series consisted of five male and two female patients with a mean age of 17.5 ±7.34 years. Two subjects had consanguinity and none had any other family member affected. Optic atrophy was present in all, sensorineural hearing loss in 4/7, central diabetes insipidus in 4/7 and nephrogenic diabetes insipidus in 2/7 subjects. The new associations found were: spastic myoclonus, short stature with pancreatic malabsorption, nephrogenic diabetes insipidus, cyanotic heart disease and choledocholithiasis with cholangitis. Genetic analysis revealed mutation in exon 8 of the WFS1 gene in all the cases studied. The present clinical series of Wolfram syndrome reveals a varied clinical presentation of the syndrome and some new associations. © 2011 The Authors. Diabetic Medicine © 2011 Diabetes UK.

Cryopyrin-associated periodic syndrome in Australian children and adults: Epidemiological, clinical and treatment characteristics.

Science.gov (United States)

Mehr, Sam; Allen, Roger; Boros, Christina; Adib, Navid; Kakakios, Alyson; Turner, Paul J; Rogers, Maureen; Zurynski, Yvonne; Singh-Grewal, Davinder

2016-09-01

Cryopyrin-associated periodic syndromes (CAPS) encapsulate three auto-inflammatory conditions, ranging in severity from mild (familial cold auto-inflammatory syndrome: FCAS), moderate (Muckle-Wells syndrome: MWS) and severe (neonatal onset multi-inflammatory disorder: NOMID). We aimed to describe the epidemiology, clinical features and outcomes of Australian children and adults with CAPS. Patients were identified and clinical data collected through a questionnaire sent during 2012-2013 to clinicians reporting to the Australian Paediatric Surveillance Unit and subscribing to the Australasian Societies for Allergy/Immunology, Rheumatology and Dermatology. Eighteen cases of CAPS were identified (8 NOMID; 8 MWS, 2 FCAS); 12 in children <18 years of age. The estimated population prevalence of CAPS was 1 per million persons. Diagnostic delay was frequent, particularly in those with milder phenotypes (median diagnostic delay in MWS/FCAS 20.6 years compared with NOMID 2.1 years; P = 0.04). Common presenting features included urticaria (100%), periodic fever (78%), arthralgia (72%) and sensorineural hearing loss (61%). Almost all (90%) MWS patients had a family member similarly affected compared with none in the NOMID group (P = 0.004). A significant proportion of patients on anti-interleukin (IL)-1 therapy (n = 13) no longer had systemic inflammation. Only 50% with sensorineural hearing loss had hearing restored on anti-IL-1 therapy. Although CAPS are rare, patients often endured prolonged periods of systemic inflammation. This is despite almost all MWS patients having family members with similar symptoms and children with NOMID presenting with chronic infantile urticaria associated with multi-system inflammation. Hearing loss in NOMID/MWS was frequent, and reversible in only 50% of cases. © 2016 Paediatrics and Child Health Division (The Royal Australasian College of Physicians).

The Marfan syndrome genetics

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Galina Pungerčič

2005-05-01

Full Text Available Background: The Marfan syndrome is an autosomal dominant heritable disorder of connective tissue. It is caused by mutations in the fibrillin-1 gene encoding glycoprotein fibrillin-1, a component of microfibrils of extracellular matrix. Patients with Marfan syndrome show wide spectra of clinical signs, primarily on skeletal, cardiovascular and ocular organ systems. Cardiovascular complications (especially aortic aneurysm and aortic dissection are the most common cause of mortality of Marfan syndrome patients. Discovering genotype-phenotype correlations is complicated because of the large number of mutations reported as well as clinical heterogeneity among individuals with the same mutation. Despite the progress in the knowledge of the molecular nature of Marfan syndrome the diagnosis is still based mainly on the clinical features in the different body systems.Conclusions: Early identification of patient with Marfan syndrome is of considerable importance because of appropriate treatment that can greatly improve life expectancy. Unfortunately, despite the improvement of diagnostic methods, medical and surgical therapy, the mortality due to undiagnosed Marfan syndrome is still high. The present article reviews the molecular genetic studies of Marfan syndrome since the discovery of the mutations in the fibrillin-1 gene.

Clinical and mutational spectrum of hypoparathyroidism, deafness and renal dysplasia syndrome.

Science.gov (United States)

Belge, Hendrica; Dahan, Karin; Cambier, Jean-François; Benoit, Valérie; Morelle, Johann; Bloch, Julie; Vanhille, Philippe; Pirson, Yves; Demoulin, Nathalie

2017-05-01

Hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome is a rare autosomal dominant disorder, secondary to mutations in the GATA-3 gene. Due to its wide range of penetrance and expressivity, the disease may not always be recognized. We herein describe clinical and genetic features of patients with HDR syndrome, highlighting diagnostic clues. Medical records of eight patients from five unrelated families exhibiting GATA-3 mutations were reviewed retrospectively, in conjunction with all previously reported cases. HDR syndrome was diagnosed in eight patients between the ages of 18 and 60 years. Sensorineural deafness was consistently diagnosed, ranging from clinical hearing loss since infancy in seven patients to deafness detected only by audiometry in adulthood in one single patient. Hypoparathyroidism was present in six patients (with hypocalcaemia and inaugural seizures in two out of six). Renal abnormalities observed in six patients were diverse and of dysplastic nature. Three patients displayed nephrotic-range proteinuria and reached end-stage renal disease (ESRD) between the ages of 19 and 61 years, whilst lesions of focal and segmental glomerulosclerosis were histologically demonstrated in one of them. Interestingly, phenotype severity differed significantly between a mother and son within one family. Five new mutations of GATA-3 were identified, including three missense mutations affecting zinc finger motifs [NM_001002295.1: c.856A>G (p.N286D) and c.1017C>G (p.C339W)] or the conserved linker region [c.896G>A (p.R299G)], and two splicing mutations (c.924+4_924+19del and c.1051-2A>G). Review of 115 previously reported cases of GATA-3 mutations showed hypoparathyroidism and deafness in 95% of patients, and renal abnormalities in only 60%. Overall, 10% of patients had reached ESRD. We herein expand the clinical and mutational spectrum of HDR syndrome, illustrating considerable inter- and intrafamilial phenotypic variability. Diagnosis of HDR should be