CASE OF THE LATE DIAGNOSIS OF POEMS-SYNDROME

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P. N. Barlamov

2011-01-01

Full Text Available POEMS-syndrome (P — polyneuropathy, O — organomegaly, E — endocrinopathy, M — M-protein, S — skin in 64-year old patient isdescribed in the article. The clinical picture was marked by such symptoms, as polyneuropathy, multiple myeloma, organomegaly (hepatosplenomegaly, endocrinopathy (diabetes, skin changes (redness and induration of the dermis in the neck, fever, hypoproteinemia, edema, weight loss, thrombocytosis. Bone-destructive syndrome was absent. In myelogram 18 % of the cells with signs of some plasmatic anaplasia were found. In blood, low level of paraprotein secretion Aλ, increased β2-microglobulin was fixed. A course of therapy with prednisolone and alkeranom was accompanied by slight positive effect. However, a second course was interrupted in the third day due to worsening of concomitant cardiac disease (ischemic heart disease in combination with hypertension. Last episode of recurrent of pulmonary edema occurred fatal. Autopsy study was not conducted. This observation illustrates the need for more rigorous examination (myelogram, immunochemical study of blood and urine in the presence of clinical signs of POEMS-syndrome for the timely diagnosis of the underlying disease and its treatment.

Metabolic Evidence of Diminished Lipid Oxidation in Women With Polycystic Ovary Syndrome

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Whigham, Leah D.; Butz, Daniel E.; Dashti, Hesam; Tonelli, Marco; Johnson, LuAnn K.; Cook, Mark E.; Porter, Warren P.; Eghbalnia, Hamid R.; Markley, John L.; Lindheim, Steven R.; Schoeller, Dale A.; Abbott, David H.; Assadi-Porter, Fariba M.

2014-01-01

Polycystic ovary syndrome (PCOS), a common female endocrinopathy, is a complex metabolic syndrome of enhanced weight gain. The goal of this pilot study was to evaluate metabolic differences between normal (n=10) and PCOS (n=10) women via breath carbon isotope ratio, urinary nitrogen and nuclear magnetic resonance (NMR)-determined serum metabolites. Breath carbon stable isotopes measured by cavity ring down spectroscopy (CRDS) indicated diminished (p

Genetic investigation into ethnic disparity in polycystic ovarian syndrome

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Li, Shuxia; Zhu, Dongyi; Duan, Hongmei

2013-01-01

Polycystic ovarian syndrome is universally the most common endocrinopathy in women of reproductive age. It is characterized by composite clinical phenotypes reflecting the reproductive impact of ovarian dysfunction (androgen excess, oligo-/anovulation, polycystic ovary) and metabolic abnormalities...... more efficient strategies for treatment and prevention of polycystic ovarian syndrome....... to unravel the molecular basis of the interethnic difference in the pathogenesis of the syndrome. It is hoped that identification and characterization of population-specific structural genetic and functional genomic patterns could help to not only deepen our understanding of the aetiology but also develop...

Recognizing and preventing refeeding syndrome.

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Adkins, Susan M

2009-01-01

Refeeding syndrome is an uncommon but potentially fatal phenomenon that can occur in patients receiving parenteral, enteral, or oral feedings after a period of sustained malnutrition or starvation. This syndrome is characterized by hypophosphatemia, hypokalemia, and hypomagnesemia. The purpose of this article was to bring an acute awareness of refeeding syndrome to the critical care nurse. The recognition, pathogenesis, clinical manifestations, potential life threatening complications, and treatment are presented.

A unique case of Shwachman-Diamond syndrome presenting with congenital hypopituitarism.

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Jivani, Nurin; Torrado-Jule, Carmen; Vaiselbuh, Sarah; Romanos-Sirakis, Eleny

2016-11-01

Shwachman-Diamond syndrome (SDS) is an autosomal recessive bone marrow failure syndrome typically characterized by neutropenia and pancreatic dysfunction, although phenotypic presentations vary, and the endocrine phenotype is not well-described. We report a unique case of a patient with SDS who initially presented with hypoglycemia and micropenis in the newborn period and was diagnosed with congenital hypopituitarism. We are not aware of any other cases of SDS documented with this combination of complex endocrinopathies.

Recognizing syndromic hidradenitis suppurativa

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Gasparic, J; Theut Riis, P; Jemec, G B

2017-01-01

may inform the search for aetiological factors in HS. PubMed, Ovid and Web of Science were systematically searched using '(hidradenitis OR acne invers*) AND (syndrome OR KID OR PASS OR PAPA OR PASH OR SAPHO OR bazex-dupre OR 'dowling degos' OR triad OR tetrad)' and Cochrane Library using 'hidradenitis...... OR acne invers*'. A total of 82 articles were included in the final review. We summarize 134 cases collected from the 82 included articles. The syndromes are discussed, focusing on etiopathogenesis, clinical presentation and treatment. This study is based on case reports; therefore, conclusions may...

Endocrine manifestations of Down syndrome.

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Whooten, Rachel; Schmitt, Jessica; Schwartz, Alison

2018-02-01

To summarize the recent developments in endocrine disorders associated with Down syndrome. Current research regarding bone health and Down syndrome continues to show an increased prevalence of low bone mass and highlights the importance of considering short stature when interpreting dual energy x-ray absorptiometry. The underlying cause of low bone density is an area of active research and will shape treatment and preventive measures. Risk of thyroid disease is present throughout the life course in individuals with Down syndrome. New approaches and understanding of the pathophysiology and management of subclinical hypothyroidism continue to be explored. Individuals with Down syndrome are also at risk for other autoimmune conditions, with recent research revealing the role of the increased expression of the Autoimmune Regulatory gene on 21st chromosome. Lastly, Down-syndrome-specific growth charts were recently published and provide a better assessment of growth. Recent research confirms and expands on the previously known endocrinopathies in Down syndrome and provides more insight into potential underlying mechanisms.

{sup 18}F-FDG PET/CT in POEMS syndrome

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An, Young Sil; Yoon, Joon Kee; Hong, Seon Pyo; Joh, Chul Woo; Yoon, Seok Nam [Ajou University School of Medicine, Suwon (Korea, Republic of)

2007-02-15

POEMS syndrome is a rare disorder, also known as Crow-Fukase, PEP or Takatsuki syndrome. The acronym, POEMS, represents polyneuropathy, organomegaly, endocrinopathy, M protein and skin change. However, there are associated features not included in the acronym such as sclerotic bone lesions, Castleman disease, papilledema, thromobocytosis, peripheral edema, ascites, effusion, polycythemia, fatigue and clubbing. In most cases, osseous lesions in POEMS syndrome present as an isolated sclerotic deposit and that reveal as osteosclerotic myeloma. Several cases of {sup 18}F-FDG PET in multiple myeloma involvements were reported, but there was no previous literature that reported FDG PET findings in POEMS syndrome. We describe here a 66-year-old patient with POEMS syndrome who underwent {sup 18}F-FDG PET/CT image.

Megaloblastic anemia with peripheral neuropathy, a misleading initial presentation in POEMS syndrome: A case report

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Iadarilang Tiewsoh

2014-01-01

Full Text Available POEMS (peripheral neuropathy, organomegaly, endocrinopathy, M protein, skin changes syndrome is a rare multisystem paraneoplastic disorder that occurs in the setting of a plasma cell dyscrasia. A 57-year-old male with initial presentation of peripheral neuropathy of lower limbs and a peripheral blood picture of megaloblastic anemia, presented with progressive lower motor neuron weakness over few months; followed by additional features of skin hyperpigmentation, generalized lymphadenopathy, erectile dysfunction, weight loss, and an attack of cerebrovascular accident (stroke infarct which recovered. On further evaluation with time, there were presence of hepatosplenomegaly, Castleman′s disease of the lymph node on biopsy, serum electrophoresis suggestive of monoclonal gammopathy with light band lambda chain, and endocrinopathy (hypothyroidism and hypogonadism. His bone marrow was suggestive of plasmacytosis. This case report describes a patient who presented with initial picture of peripheral neuropathy with megaloblastic anemia, but when followed-up there were diverse clinical manifestations fulfilling the diagnostic clinical criteria of POEMS Syndrome.

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

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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.

Physical Distress, Emotional Status, and Quality of Life in Patients With Nasopharyngeal Cancer Complicated by Post-Radiotherapy Endocrinopathy

International Nuclear Information System (INIS)

Lue, B.-H.; Huang, T.-S.; Chen, H.-J.

2008-01-01

Purpose: To explore factors affecting quality of life (QOL) among patients with nasopharyngeal cancer (NPC) complicated by post-radiotherapy endocrinopathy. Methods and Materials: This cross-sectional study was conducted in a tertiary medical center and involved a total of 43 post-radiotherapy, recurrence-free NPC patients with endocrinopathy. They performed self-assessment of their emotional status using the Beck Anxiety Inventory and Beck Depression Inventory-II, and their QoL with the European Organization for Research and Treatment of Cancer Quality of Life Questionnaire (EORTC QLQ-C30) questionnaire and the H and N35 cancer module. Results: Emotional and cognitive functioning of EORTC QLQ-C30 were the most affected. Fatigue, insomnia, and pain were the main concerns. Of the patients, 22 (51.2%) had anxiety and 19 (44.2%) had depression. Both depression and anxiety were negatively correlated with functional scales and global QoL but positively correlated with symptom scales. Multiple linear regression analysis revealed that physical distress symptoms of QLQ-C30 and physical functioning were the significant predictors of global QoL. Emotional and social functioning could predict depression, whereas emotional and physical functioning were significant predictors of anxiety. Conclusions: NPC patients with post-radiotherapy endocrinopathy exhibit impaired cognitive function and negative emotions. Symptoms of physical distress play an important role in QoL perception. Measurement of EORTC QLQ-C30 can be a useful instrument for the early detection of patients' impaired cognitive function and psychological morbidity. The high psychological distress related to the endocrine disturbances or the impact of NPC itself needs further study

Prevention of type 2 diabetes mellitus in polycystic ovary syndrome: A review.

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Anwar, Safa; Shikalgar, Nigar

2017-12-01

Polycystic ovary syndrome (PCOS) is recognized as one of the most common endocrinopathies in women of reproductive age, associated with metabolic sequelae which includes increased risk factors for impaired glucose tolerance (IGT), type 2 diabetes mellitus (DM2) and cardiovascular disease (CVD). The adverse effects of DM2 affects a woman throughout her lifespan. Health care expenditure of DM2 highlights the need for prevention through appropriate screening, diagnosis and intervention. Lifestyle modification (LSM) programs that include diet and/or physical activity are suggested for patients characterized as prediabetic to delay the onset of adult DM2. Diet (i.e. low carbohydrate), combination of aerobic and resistance exercise with high intensity interval training (HIT) 150 to 175min/week with resistance exercise 2 to 3days/week and weight loss may be valuable supporters in the fight against IR, IGT and DM2 associated with PCOS. Copyright © 2017 Diabetes India. Published by Elsevier Ltd. All rights reserved.

A novel DNMT1 mutation associated with early onset hereditary sensory and autonomic neuropathy, cataplexy, cerebellar atrophy, scleroderma, endocrinopathy, and common variable immune deficiency.

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Fox, Robin; Ealing, John; Murphy, Helen; Gow, David P; Gosal, David

2016-09-01

DNA methyltransferase 1 (DNMT1) is an enzyme which has a role in methylation of DNA, gene regulation, and chromatin stability. Missense mutations in the DNMT1 gene have been previously associated with two neurological syndromes: hereditary sensory and autonomic neuropathy type 1 with dementia and deafness (HSAN1E) and autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN). We report a case showing overlap of both of these syndromes plus associated clinical features of common variable immune deficiency, scleroderma, and endocrinopathy that could also be mutation associated. Our patient was found to be heterozygous for a previously unreported frameshift mutation, c.1635_1637delCAA p.(Asn545del) in the DNMT1 gene exon 20. This case displays both the first frameshift mutation described in the literature which is associated with a phenotype with a high degree of overlap between HSAN1E and ADCA-DN and early age of onset (c. 8 years). Our case is also of interest as the patient displays a number of new non-neurological features, which could also be DNMT1 mutation related. © 2016 Peripheral Nerve Society.

Adropin Levels in Polycystic Ovary Syndrome Patients

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Hacer Sen

2017-01-01

Aim: Polycystic ovary syndrome (PCOS) is one of the most commonly observed endocrinopathies in women of reproductive age. Women with PCOS are said to have increased classic risk factors for cardiovascular disease, hypertension, dyslipidemia, diabetes, and obesity, in addition to non-classic risk factors such as an increase in C-reactive protein (CRP), homocysteine, and tumor necrosis factor-%u03B1. Adropin is a protein thought to play a role in maintaining energy homeostasis and insulin respo...

HEART RATE VARIABILITY AND LIPID PROFILE IN NON OBESE YOUNG INDIAN WOMEN WITH POLYCYSTIC OVARY SYNDROME

OpenAIRE

Malathi; Balamurugan; Gomathi

2015-01-01

CONTEXT (BACKGROUND): Polycystic ovary syndrome (PCOS) is one of the most common endocrinopathy of premenopausal women and is a most frequent cause of infertility. There are more stringent reports of cardiovascular events and infrequent investigations of lipid levels in lean PCOS. AIMS: To assess the cardiac autonomicity using Heart Rate Variabi...

Neuromyelitis optica with Hashimoto′s thyroiditis: A new syndrome or just coincidence

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Abhishek Singhai

2015-01-01

Full Text Available Neuromyelitis optica (NMO is an uncommon disease syndrome of the central nervous system that affects the optic nerves and spinal cord. NMO with endocrinopathies has been described as being unique to black Antillean and Afro-Brazilian women. We describe one case of NMO with hashimoto′s thyroiditis in a young female, probably first case report in India.

McCune-Albright syndrome: radiological and MR findings.

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Yongjing, G; Huawei, L; Zilai, P; Bei, D; Hao, J; Kemin, C

2001-01-01

McCune-Albright syndrome (MAS) is a non-inherited disorder due to the GNAS1 gene mutation. The syndrome is characterized with the triad of polyostotic fibrous dysplasia, pigmented skin lesions, endocrinopathy, and precocious puberty. We report the case of a 14-year-old boy, presenting with sclerotic type of polyostotic fibrous dysplasia. Radiological methods including plain X-ray film, MR and whole body bone scintigraphy suggested the diagnosis of MAS. MRI provided more directly perceived images and it was more sensitive in demonstrating the lesion: its shape, contents, especially the size of the affected region. Histopathological study and the identification of mutant gene finally confirmed the diagnostic result.

Metformin use in women with polycystic ovary syndrome

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Johnson, Neil P.

2014-01-01

Polycystic ovary syndrome (PCOS) is an endocrinopathy characterised by increased resistance to insulin. Metformin is one of the longest established oral insulin sensitising agents. For decades its use was restricted to management of type 2 diabetes. However, in the past two decades, its properties as an insulin sensitising agent have been explored in relation to its applicability for women with PCOS. Metformin is an effective ovulation induction agent for non-obese women with PCOS and offers ...

[Cyclic Cushing's Syndrome - rare or rarely recognized].

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Kiałka, Marta; Doroszewska, Katarzyna; Mrozińska, Sandra; Milewicz, Tomasz; Stochmal, Ewa

2015-01-01

Cyclic Cushing's syndrome is a type of Cushing's disease which is characterized by alternating periods of increasing and decreasing levels of cortisol in the blood. The diagnostic criteria for cyclic Cushing's syndrome are at least three periods of hypercortisolism alternating with at least two episodes of normal levels of serum cortisol concentration. The epidemiology, signs, symptoms, pathogenesis and treatment of cyclic Cushing's syndrome have been discussed.

Efficacy and safety of metformin or oral contraceptives, or both in polycystic ovary syndrome

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Yang, Young-Mo; Choi, Eun Joo

2015-01-01

Young-Mo Yang, Eun Joo Choi College of Pharmacy, Chosun University, Gwangju, South Korea Background: Polycystic ovary syndrome (PCOS) is an endocrinopathy that affects approximately 10% of reproductive-aged women throughout their lives. Women with PCOS present with heterogeneous symptoms including ovulatory dysfunction, hyperandrogenism, and polycystic ovaries. Therefore, lifelong individualized management should be considered. Pharmacological agents commonly used to manage the symptoms are...

Hansen′s disease with McCune-Albright syndrome

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KVS Hari Kumar

2012-01-01

Full Text Available McCune-Albright syndrome (MAS comprises a triad of fibrous dysplasia of bone, cafι-au-lait macule, and endocrinopathy. The disease is due to activating mutation of G protein-coupled receptor leading to hyperfunction of glands. Hansen′s disease is caused by infection with Mycobacterium leprae and is seen with underlying immunosuppressed conditions in genetically predisposed individuals. We recently encountered a patient with Hansen′s disease along with underlying MAS and report the same in this report.

TREATMENT OF METABOLIC ALTERATIONS IN POLYCYSTIC OVARY SYNDROME.

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Păvăleanu, Ioana; Gafiţanu, D; Popovici, Diana; Duceac, Letiţia Doina; Păvăleanu, Maricica

2016-01-01

Polycystic ovary syndrome is a common endocrinopathy characterized by oligo ovulation or anovulation, signs of androgen excess and multiple small ovarian cysts. It includes various metabolic abnormalities: insulin resistance, hyperinsulinemia, impaired glucose tolerance, visceral obesity, inflammation and endothelial dysfunction, hypertension and dyslipidemia. All these metabolic abnormalities have long-term implications. Treatment should be individualized and must not address a single sign or symptom. Studies are still needed to determine the benefits and the associated risks of the medication now available to practitioners.

Chronic constipation recognized as a sign of a SOX10 mutation in a patient with Waardenburg syndrome.

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Arimoto, Yukiko; Namba, Kazunori; Nakano, Atsuko; Matsunaga, Tatsuo

2014-05-01

Waardenburg syndrome is characterized by hearing loss, pigmentation abnormalities, dysmorphologic features, and neurological phenotypes. Waardenburg syndrome consists of four distinct subtypes, and SOX10 mutations have been identified in type II and type IV. Type IV differs from type II owing to the presence of Hirschsprung disease. We identified a de novo nonsense mutation in SOX10 (p.G39X) in a female pediatric patient with Waardenburg syndrome with heterochromia iridis, profound bilateral sensorineural hearing loss, inner ear malformations, and overall hypopigmentation of the hair without dystopia canthorum. This patient has experienced chronic constipation since she was a neonate, but anorectal manometry showed a normal anorectal reflex. Chronic constipation in this patient was likely to be a consequence of a mild intestinal disorder owing to the SOX10 mutation, and this patient was considered to have a clinical phenotype intermediate between type II and type IV of the syndrome. Chronic constipation may be recognized as indicative of a SOX10 mutation in patients with Waardenburg syndrome. Copyright © 2014 Elsevier B.V. All rights reserved.

Multiple endocrinopathies (growth hormone deficiency, autoimmune hypothyroidism and diabetes mellitus in Kearns-Sayre syndrome

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A. Berio

2013-06-01

Full Text Available Kearns-Sayre syndrome is characterized by onset before 20 years, chronic progressive external opthalmoplegia, pigmentary retinal degeneration, and ataxia (and/or hearth block, and/or high protein content in the cerebrospinal fluid in the presence of mtDNA rearrangements. Multiple endocrine dysfunction associated with this syndrome was rarely reported. In this paper, the Authors report on a female patient with Kearns-Sayre syndrome with large heteroplasmic mtDNA deletion, absence of cytochrome c oxidase in many muscle fibers, partial GH deficiency, hypothyroidism and subsequently insulin dependent diabetes mellitus (IDDM. Anti-thyroid peroxidase and antithyreoglobulin antibodies were present in high titer in serum while anti-islet cell antibodies were absent. The patient developed thyroiditis with Hashimoto encephalopathy. The presence of GH deficiency, autoimmune thyroiditis with hypothyroidism and IDDM distinguishes this case from others and confirms the association of Kearns-Sayre syndrome with multiple endocrine dysfunction. Hashimoto encephalopathy and anti-thyroideal antibodies suggest that in this patient, predisposed by a genetic factor (a mitochondrial deletion anti-thyroideal antibodies may have contributed to the hypothyroidism and, by interfering with cerebral mitochondrial function, may have caused the encephalopathy. GH deficiency and IDDM can be attributed to oxidative phosphorylation deficiency but the autoimmunity may also have played a role in the production of glandular insufficiencies. It seems important to search for endocrine autoimmunity in every case of KSS.

Thrombocytosis distinguishes POEMS syndrome from chronic inflammatory demyelinating polyneuropathy.

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Naddaf, Elie; Dispenzieri, Angela; Mandrekar, Jay; Mauermann, Michelle L

2015-10-01

POEMS (polyneuropathy, organomegaly, endocrinopathy, monoclonal plasma cell disorder, and skin changes) syndrome may be mistaken for chronic inflammatory demyelinating polyneuropathy (CIDP). Differentiating the 2 entities is crucial, as there are major treatment implications. We compared platelet counts in 136 POEMS patients and 67 CIDP controls. Of the patients with POEMS, 53.7% had thrombocytosis, compared with 1.5% of those with CIDP (P < 0.0001). The median platelet count in patients with POEMS was 467,000/μl compared with 275,000/μl in those with CIDP (P < 0.0001). Thrombocytosis is a helpful indicator to prompt clinicians to consider the diagnosis of POEMS syndrome in patients who are thought to have CIDP, and is an important reminder of the increased risk of thrombotic events in POEMS syndrome. © 2015 Wiley Periodicals, Inc.

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.

Autoimmune polyendocrine syndrome type 1 – a case report from Bangladesh

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Tahniyah Haq

2016-01-01

Full Text Available We describe a case of a 26 years old man who presented with adrenocortical insufficiency followed by hypoparathyroidism and subsequently mucocutaneous candidiasis. He also had nail dystrophy, cataract and alopecia, but no other endocrinopathies. He was diagnosed as a case of autoimmune polyendocrine syndrome type 1(APS 1. APS1 is a rare endocrine disorder and only a few cases have been reported from Bangladesh. IMC J Med Sci 2016; 10(1: 33-35

Novel strategies in the management of polycystic ovary syndrome.

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Spritzer, P M; Motta, A B; Sir-Petermann, T; Diamanti-Kandarakis, E

2015-09-01

Polycystic ovary syndrome (PCOS) is a common endocrinopathy affecting reproductive-aged women. PCOS has been recognized as a syndrome combining reproductive and metabolic abnormalities with lifelong health implications. Cardiometabolic alterations require regular screening and effective and targeted lifestyle advice to lose weight as well as to prevent weight gain. Pharmacological therapy includes insulin-sensitizer drugs and agents that act directly on metabolic comorbidities, such as statins and antiobesity drugs. Bariatric surgery may be an option for severely obese women with PCOS Regarding reproductive aspects, ovulation induction with antiestrogens such as clomiphene citrate or letrozole is the first-line medical treatment. Exogenous gonadotropins and in vitro fertilization (IVF) are recommended as second-line treatment for anovulatory infertility. Laparoscopic ovarian diathermy may be used in special cases and metformin is no longer recommended for ovulation induction. Combined oral contraceptives (OCs) are the first-line treatment for the management of menstrual irregularities in women not seeking pregnancy, also providing endometrial protection and contraception. Progestin-only pills or cyclical progestins are recommended for those with contraindications to OCs. Metformin is also considered a second-line choice for improving menstrual cycles in women presenting insulin-resistance and dysglicemia. Hirsutism requires cosmetic procedures and medical treatment with OCs. More severe cases may need anti-androgen drugs added to the OCs. In conclusion, strategies regarding the management of reproductive issues in PCOS encompass a tailored approach to individual needs of each patient.

Female Gender Scheme is Disturbed by Polycystic Ovary Syndrome: A Qualitative Study From Iran

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Nasiri Amiri, Fatemeh; Ramezani Tehrani, Fahimeh; Simbar, Masoumeh; Mohammadpour Thamtan, Reza Ali; Shiva, Niloofar

2014-01-01

Background: Polycystic ovary syndrome (PCOS) is the most common endocrinopathy affecting up to one in every five women of reproductive age. The majority of researches on PCOS focus on its biomedical aspects, often overlooking and neglecting women’s own perceptions and experiences. Objectives: This study aimed to explore women’s perception and experiences that influence their personal gender role. Patients and Methods: This research is a qualitative study by conventional content analysis. Semi...

A rare case report of simultaneous presentation of myopathy, Addison's disease, primary hypoparathyroidism, and Fanconi syndrome in a child diagnosed with Kearns-Sayre syndrome.

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Tzoufi, Meropi; Makis, Alexandros; Chaliasos, Nikolaos; Nakou, Iliada; Siomou, Ekaterini; Tsatsoulis, Agathoklis; Zikou, Anastasia; Argyropoulou, Maria; Bonnefont, Jean Paul; Siamopoulou, Antigone

2013-04-01

Kearns-Sayre syndrome (KSS) is a rare mitochondrial DNA deletion syndrome defined as the presence of ophthalmoplegia, pigmentary retinopathy, onset less than age 20 years, and one of the following: cardiac conduction defects, cerebellar syndrome, or cerebrospinal fluid protein above 100 mg/dl. KSS may affect many organ systems causing endocrinopathies, encephalomyopathy, sensorineural hearing loss, and renal tubulopathy. Clinical presentation at diagnosis is quite heterogeneous and, usually, few organs are affected with progression to generalized disease early in adulthood. We present the case of a boy with KSS presenting at the age of 5 years with myopathy, Addison's disease, primary hypoparathyroidism, and Fanconi syndrome. The proper replacement treatment along with the administration of mitochondrial metabolism-improving agents had a brief ameliorating effect, but gradual severe multisystemic deterioration was inevitable over the next 5 years. This report highlights the fact that in case of simultaneous presentation of polyendocrinopathies and renal disease early in childhood, KSS should be considered.

Metformin: an old medication of new fashion: evolving new molecular mechanisms and clinical implications in polycystic ovary syndrome.

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Diamanti-Kandarakis, Evanthia; Christakou, Charikleia D; Kandaraki, Eleni; Economou, Frangiskos N

2010-02-01

Polycystic ovary syndrome (PCOS) is now recognized to be the most common endocrinopathy in women of reproductive age with a prevalence of 6.6-6.8%. PCOS, a syndrome of unknown etiology, was initially regarded as a reproductive disorder. However, in the last 15 years the role of insulin resistance (IR) has been identified as a significant contributor to the pathogenesis of PCOS, and the metabolic and cardiovascular sequelae of the syndrome have been increasingly appreciated. The coexistence and interaction of reproductive and cardiometabolic abnormalities in the context of PCOS have created a need for a modified therapeutic management of affected women. Insulin sensitizers, particularly metformin, have been introduced as a pharmaceutical option targeting not only IR, but several other aspects of the syndrome, including reproductive abnormalities. The landscape of the multifaceted actions of metformin evolves to broaden the therapeutic implications of this old drug in a new fashion for patients with PCOS. Most recently, the spectrum of metformin's targets has been expanded, and molecular studies have explored the tissue-specific mechanisms of metformin in the liver, the muscle, the endothelium, and the ovary. The use of metformin in pregnant women with PCOS comprises another scarcely explored, but promising area of research. This review attempts to cover the spectrum of metformin's cellular actions in different tissues and to summarize the current literature regarding the potential medical value of this medication in PCOS. Even if many of these actions are individually modest, they seem to be collectively sufficient to confer therapeutic benefits not only in cardiometabolic aspects but also in reproductive aspects of PCOS.

[Clinical implications of polycystic ovary syndrome].

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Dravecká, Ingrid

Polycystic ovary syndrome (PCOS) is a heterogeneous and complex endocrine disease which among the female population belongs to the most widespread endocrinopathies and it is the most frequent cause of hyperthyroidism, anticoagulation and infertility. Insulin resistance is one of the important diabetology factors impacting hyperglycaemia in a majority of women with PCOS (60-80 %). Clinical expressions of PCOS include reproduction disorders, metabolic characteristics and psychological implications. Reproduction disorders include hyperthyroidism, menstruation cycle disorders, infertility and pregnancy complications as well as early abortions, gestational diabetes and pregnancy induced hypertension. Long-term metabolic risks of PCOS include type 2 diabetes mellitus, dyslipidemia, arterial hypertension and endothelial dysfunction. The available data confirms higher incidence of cardiovascular diseases in women with PCOS. In particular among obese women PCOS is more frequently associated with non-alcoholic hepatic steatosis, sleep apnoea syndrome and endometrial cancer. The literature includes some controversial data about the relationship between PCOS and autoimmunity. Women with PCOS are more prone to suffer from insufficient confidence with higher incidence of anxiety, depression, bipolar disorder and eating disorders. autoimmunity - diabetes mellitus - pregnancy - insulin resistance - metabolic syndrome - menstrual disorders - polycystic ovary syndrome.

Polycystic ovary syndrome and prolactinoma association.

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Yavasoglu, Irfan; Kucuk, Mert; Coskun, Adil; Guney, Engin; Kadikoylu, Gurhan; Bolaman, Zahit

2009-01-01

Hyperprolactinemia is the most common pituitary hormone hypersecretion syndrome in both men and women. Polycystic ovary syndrome (PCOS) is one of the most common endocrinopathies affecting 5%-10% of reproductive age women. Here, we present a patient with irregular menses, obesity, hirsutism and infertility, and hyperprolactinemia who was diagnosed as PCOS and prolactinoma and admitted to our clinic. Prolactinoma and PCOS association is a rare condition. This 33-year-old woman was admitted to the internal medicine outpatient clinic for irregular menses, obesity, hirsutism and infertility, and hyperprolactinemia. Her laboratory results were as follows: prolactin was 74 ng/mL (normal range:1.8-20.3 ng/mL). Pelvic ultrasonography was correlated with polycystic ovary syndrome. Pituitary MRI showed 6x8 mm microadenoma at left half. Bromocriptine was started with 1.25 mg/day and increased to 5 mg/day. After six months of bromocriptine treatment her prolactin level was normal and no adenoma was detected in pituitary MRI. PCOS and prolactinoma association should be taken into account in PCOS cases with mild hyperprolactinoma.

[Coexistence of autoimmune polyglandular syndrome type 3 with diabetes insipidus].

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Krysiak, Robert; Okopień, Bogusław

2015-01-01

Autoimmune polyglandular syndromes are conditions characterized by the combination of two or more organ-specific disorders. The underestimation oftheir real frequency probable results from physicians' inadequate knowledge of these clinical entities and sometimes their atypical clinical presentation. Because they comprise a wide spectrum of autoimmune disorders, autoimmune polyglandular syndromes are divided into four types, among which type-3 is the most common one. In this article, we report the case of a young female, initially diagnosed with diabetes mellitus who several years later developed full-blown autoimmune polyglandular syndrome type 3 consisting of autoimmune thyroid disorder and latent autoimmune diabetes in adults.The discussed case suggests that in selected patients diabetes insipidus may coexist with autoimmune endocrinopathies and nonendocrine autoimmunopathies, as well as that in some patients idiopathic diabetes insipidus may be secondary to lymphocytic infiltration and destruction of the hypothalamic supraoptic and paraventricular nuclei and/or the supraoptic-hypophyseal tract

Radioiodine treatment in McCune-Albright syndrome with hyperthyroidism

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Dhritiman Chakraborty

2012-01-01

Full Text Available McCune-Albright syndrome (MAS is a sporadic disease characterized by polyostotic fibrous dysplasia, "café-au-lait" spots and hyperfunctional endocrinopathies. Pathophysiological basis is activating mutation of the gene that encodes the alpha subunit of Gs membrane protein that stimulates the intracellular production of cAMP, conferring autonomous secretion of the gland in particular. One of the uncommon endocrine manifestations is hyperthyroidism. We present a patient who had café-au-lait spots, polyostotic fibrous dysplasia and hyperthyroidism. She was treated with radioactive iodine for the symptoms of hyperthyroidism and subsequently relieved from hyperthyroid features.

Pathomechanisms of polycystic ovary syndrome: Multidimensional approaches.

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Sagvekar, Pooja; Dadachanji, Roshan; Patil, Krutika; Mukherjee, Srabani

2018-03-01

Polycystic ovary syndrome is a complex endocrine disorder affecting numerous women of reproductive age across the globe. Characterized mainly by irregular menses, hirsutism, skewed LH: FSH ratios and bulky polycystic ovaries, this multifactorial endocrinopathy results in unfavorable reproductive and metabolic sequelae, including anovulatory infertility, type 2 diabetes, metabolic syndrome and cardiovascular disease in later years. Increasing evidence has shown that the manifestation of polycystic ovary syndrome (PCOS) is attributable to a cumulative impact of altered genetic, epigenetic and protein profiles which bring about a systemic dysfunction. While genetic approaches help ascertain role of causal variants in its etiology, tissue-specific epigenetic patterns help in deciphering the auxiliary role of environmental, nutritional and behavioral factors. Proteomics is advantageous, linking both genotype and phenotype and contributing to biomarker discovery. Investigating molecular mechanism underlying PCOS is imperative in order to gain insight into the pathophysiology of PCOS and formulate novel diagnostic and treatment strategies. In this review we have summarized these three aspects, which have been successfully utilized to delineate the pathomechanisms of PCOS.

DNA methylation profiles of polycystic ovarian syndrome in Chinese women: A case-control study

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Li, Shuxia; Duan, Hongmei; Zhu, D

As a universally common endocrinopathy in women of reproductive age, the polycystic ovarian syndrome is characterized by composite clinical phenotypes refl ecting the contributions of reproductive impact of ovarian dysfunction and metabolic abnormalities with widely varying symptoms resulting from...... interference of the genome with the environment through integrative biological mechanisms including epigenetics. We have performed a genome-wide DNA methylation analysis on polycystic ovarian syndrome using Illumina’s HumanMethylation450 BeadChip array. We identifi ed a substantial number of genomic sites diff...... rateovarian tissue under PCOS condition. Most importantly, our genome-wide profi ling focusing on PCOS patients revealed a large number of DNA methylation sites and their enriched functional pathways signifi cantly associated with diverse...

A case of atypical McCune-Albright syndrome requiring optic nerve decompression.

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Yavuzer, R; Khilnani, R; Jackson, I T; Audet, B

1999-10-01

McCune-Albright syndrome (MAS) is a disease of noninheritable, genetic origin defined by the triad of café-au-lait pigmentation of the skin, precocious puberty, and polyostotic fibrous dysplasia. This syndrome, which affects young girls primarily, has also been reported with other endocrinopathies, and rarely with acromegaly and hyperprolactinemia. The fibrous dysplasia in MAS is of the polyostotic type and, apart from the characteristic sites such as the proximal aspects of the femur and the pelvis, the craniofacial region is frequently involved. A male patient with MAS presented with juvenile gigantism, precocious puberty, pituitary adenoma-secreting growth hormone and prolactin, hypothalamic pituitary gonadal and thyroid dysfunction, and polyostotic fibrous dysplasia causing optic nerve compression. Visual deterioration and its surgical management are presented.

Metabolic Syndrome: Polycystic Ovary Syndrome.

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Mortada, Rami; Williams, Tracy

2015-08-01

Polycystic ovary syndrome (PCOS) is a heterogeneous condition characterized by androgen excess, ovulatory dysfunction, and polycystic ovaries. It is the most common endocrinopathy among women of reproductive age, affecting between 6.5% and 8% of women, and is the most common cause of infertility. Insulin resistance is almost always present in women with PCOS, regardless of weight, and they often develop diabetes and metabolic syndrome. The Rotterdam criteria are widely used for diagnosis. These criteria require that patients have at least two of the following conditions: hyperandrogenism, ovulatory dysfunction, and polycystic ovaries. The diagnosis of PCOS also requires exclusion of other potential etiologies of hyperandrogenism and ovulatory dysfunction. The approach to PCOS management differs according to the presenting symptoms and treatment goals, particularly the patient's desire for pregnancy. Weight loss through dietary modifications and exercise is recommended for patients with PCOS who are overweight. Oral contraceptives are the first-line treatment for regulating menstrual cycles and reducing manifestations of hyperandrogenism, such as acne and hirsutism. Clomiphene is the first-line drug for management of anovulatory infertility. Metformin is recommended for metabolic abnormalities such as prediabetes, and a statin should be prescribed for cardioprotection if the patient meets standard criteria for statin therapy. Written permission from the American Academy of Family Physicians is required for reproduction of this material in whole or in part in any form or medium.

Oral manifestations of McCune-Albright syndrome

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Konidena Aravinda

2013-01-01

Full Text Available McCune- Albright Syndrome (MAS is a rare fibrosseous lesion, characterized by a classic triad of polyostotic fibrous dysplasia (PFD, cafι -au-lait macules (CALM and underlying endocrinopathies. We present the oral findings of an interesting case of MAS with relevant review of literature. A 30-year-old male presented to us with swelling of both jaws over a period of two years. Cutaneous examination revealed cafι - au - lait macule over the back, crossing the midline. Skeletal survey showed expansile, osteolytic, mixed radiolucent- radiopaque lesions in skull and jaw bones. Serum alkaline phosphatase was elevated (388 IU/L, with normal calcium, phosphorus, parathyroid hormone and 25 hydroxy vitamin D levels. Diagnosis of McCune- Albright syndrome was made and he was treated with parenteral bisphosphonates (intravenous Zoledronate 4 mg and is under follow up for surgical recontouring of the jaws. Early recognition facilitates better treatment and improves prognosis by reducing the morbidity.

Differential DNA methylation patterns of polycystic ovarian syndrome in whole blood of Chinese women

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Li, Shuxia; Zhu, Dongyi; Duan, Hongmei

2017-01-01

As a universally common endocrinopathy in women of reproductive age, the polycystic ovarian syndrome is characterized by composite clinical phenotypes reflecting the contributions of reproductive impact of ovarian dysfunction and metabolic abnormalities with widely varying symptoms resulting from...... interference of the genome with the environment through integrative biological mechanisms including epigenetics. We have performed a genome-wide DNA methylation analysis on polycystic ovarian syndrome and identified a substantial number of genomic sites differentially methylated in the whole blood of PCOS...... in the DNA methylome from ovarian tissue under PCOS condition. Most importantly, our genome-wide profiling focusing on PCOS patients revealed a large number of DNA methylation sites and their enriched functional pathways significantly associated with diverse clinical features (levels of prolactin, estradiol...

Hallermann-Streiff syndrome associated with small cerebellum, endocrinopathy and increased chromosomal breakage.

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Hou, J W

2003-07-01

Hallermann-Streiff syndrome (HSS) is a rare clinic entity of unknown aetiology. Further clinical and metabolic-genetic evaluations are indicated. A 2-mo-old female baby presented with ocular abnormalities and severe failure to thrive since birth. The clinical features were compatible with the diagnosis of HSS. Further imaging, metabolic and cytogenetic examinations were performed. Features characteristic of HSS were dyscephaly with mandibular and nasal cartilage hypoplasia, microphthalmia, bilateral cataracts with congenital glaucoma, natal teeth and proportionate dwarfism. Rare anomalies such as choanal atresia and small cerebellum, very low insulin-like growth factor I level, hypothyroidism, generalized organic aciduria were also noticed. An increased chromosomal breakage rate is suggestive of the existence of some DNA repair defects in HSS patients. The associated anomalies in this patient may broaden the clinical spectrum of HSS. Underlying conditions of organic aciduria, growth factor deficiency and impaired DNA repair are likely to contribute to the progeria-like facies, congenital cataracts and growth failure.

Wernicke-Korsakoff-syndrome: under-recognized and under-treated.

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Isenberg-Grzeda, Elie; Kutner, Haley E; Nicolson, Stephen E

2012-01-01

Wernicke-Korsakoff syndrome (WKS) is a well described syndrome of neurological and cognitive problems that comprises both Wernicke's encephalopathy (WE) and Korsakoff syndrome (KS). WE is an acute neuropsychiatric disorder caused by thiamine deficiency. KS is a chronic consequence of thiamine deficiency with prominent impairment in memory formation. The authors review the literature on the pathophysiology, presentation, and treatment of WKS, focusing on the acute identification and treatment of WE. Most cases of WE are missed by clinicians, likely because patients do not present with the classic signs associated with the condition. Attaining high serum levels of thiamine during treatment may be important to restore cognitive function as quickly as possible, though the exact dosing and route needed for effective treatment is unknown. Data indicates that the administration of intravenous (IV) thiamine has little risk. In order to prevent this potentially devastating disease, physicians should have a high index of suspicion for WKS and dose thiamine accordingly. Copyright © 2012 The Academy of Psychosomatic Medicine. Published by Elsevier Inc. All rights reserved.

Cardiometabolic Risks in Polycystic Ovary Syndrome: Non-Traditional Risk Factors and the Impact of Obesity.

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Chiu, Wei-Ling; Boyle, Jacqueline; Vincent, Amanda; Teede, Helena; Moran, Lisa J

2017-01-01

Polycystic ovary syndrome (PCOS) is a common and complex endocrinopathy with reproductive, metabolic, and psychological features and significantly increased cardiometabolic risks. PCOS is underpinned by inherent insulin resistance and hyperandrogenism. Obesity, more common in PCOS, plays an important role in the pathophysiology, exacerbating hyperinsulinaemia and hyperandrogenism, leading to recommended first-line lifestyle intervention. Significant traditional and non-traditional risk factors are implicated in PCOS in addition to obesity-exacerbated cardiometabolic risks and are explored in this review to promote the understanding of this common metabolic and reproductive condition. © 2016 S. Karger AG, Basel.

Traumatic Brain Injury: At the Crossroads of Neuropathology and Common Metabolic Endocrinopathies

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Melanie Li

2018-03-01

Full Text Available Building on the seminal work by Geoffrey Harris in the 1970s, the neuroendocrinology field, having undergone spectacular growth, has endeavored to understand the mechanisms of hormonal connectivity between the brain and the rest of the body. Given the fundamental role of the brain in the orchestration of endocrine processes through interactions among neurohormones, it is thus not surprising that the structural and/or functional alterations following traumatic brain injury (TBI can lead to endocrine changes affecting the whole organism. Taking into account that systemic hormones also act on the brain, modifying its structure and biochemistry, and can acutely and chronically affect several neurophysiological endpoints, the question is to what extent preexisting endocrine dysfunction may set the stage for an adverse outcome after TBI. In this review, we provide an overview of some aspects of three common metabolic endocrinopathies, e.g., diabetes mellitus, obesity, and thyroid dysfunction, and how these could be triggered by TBI. In addition, we discuss how the complex endocrine networks are woven into the responses to sudden changes after TBI, as well as some of the potential mechanisms that, separately or synergistically, can influence outcomes after TBI.

McCune-Albright syndrome

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Collins Michael T

2008-05-01

Full Text Available Abstract McCune-Albright syndrome (MAS is classically defined by the clinical triad of fibrous dysplasia of bone (FD, café-au-lait skin spots, and precocious puberty (PP. It is a rare disease with estimated prevalence between 1/100,000 and 1/1,000,000. FD can involve a single or multiple skeletal sites and presents with a limp and/or pain, and, occasionally, a pathologic fracture. Scoliosis is common and may be progressive. In addition to PP (vaginal bleeding or spotting and development of breast tissue in girls, testicular and penile enlargement and precocious sexual behavior in boys, other hyperfunctioning endocrinopathies may be involved including hyperthyroidism, growth hormone excess, Cushing syndrome, and renal phosphate wasting. Café-au-lait spots usually appear in the neonatal period, but it is most often PP or FD that brings the child to medical attention. Renal involvement is seen in approximately 50% of the patients with MAS. The disease results from somatic mutations of the GNAS gene, specifically mutations in the cAMP regulating protein, Gs alpha. The extent of the disease is determined by the proliferation, migration and survival of the cell in which the mutation spontaneously occurs during embryonic development. Diagnosis of MAS is usually established on clinical grounds. Plain radiographs are often sufficient to make the diagnosis of FD and biopsy of FD lesions can confirm the diagnosis. The evaluation of patients with MAS should be guided by knowledge of the spectrum of tissues that may be involved, with specific testing for each. Genetic testing is possible, but is not routinely available. Genetic counseling, however, should be offered. Differential diagnoses include neurofibromatosis, osteofibrous dysplasia, non-ossifying fibromas, idiopathic central precocious puberty, and ovarian neoplasm. Treatment is dictated by the tissues affected, and the extent to which they are affected. Generally, some form of surgical intervention

Complete heart block in a patient with POEMS syndrome: A case report

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Farzaneh Ashrafi

2014-09-01

Full Text Available BACKGROUND: Polyneuropathy, organomegaly, endocrinopathy, monoclonal syndrome (POEMS is a rare paraneoplastic syndrome associated with plasma cell dyscrasia. CASE REPORT: A 48-year-old man presented with a 1-year history of paresthesia and progressive weakness of extremities. Diagnosis of POEMS syndrome was made for him on the basis of clinical presentation, additional physical findings, typical sclerotic bone lesion, and bone marrow findings. In last admission, he explained episodes of dyspnea and chest pain that associated with frequent premature ventricular contraction in his electrocardiograph. Patient heart monitoring showed some episodes of complete heart block. Infra-His atrioventricular block in electro-physiologic study was detected. He had no history of ischemic heart disease. His cardiopulmonary findings on examination were normal. All results of cardiac biomarkers and serum electrolytes and repeated echocardiography were within normal range. Cong red staining of rectal fat pad biopsy was negative. After pacemaker insertion radiation of sclerotic bone, lesion started for him, but radiotherapy was ineffective, and he expired with respiratory failure. Complete heart block in POEMS syndrome has not been reported previously, and it is the first POEMS case with complete heart block. CONCLUSION: Complete heart block is a cardiac manifestation of POEMS syndrome.   Keywords: Complete Heart Block, POEM Syndrome, Multiple Meloma 

Characterizing cardiovascular risk in women with polycystic ovary syndrome: more than the sum of its parts?

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Chang, Alice Y; Wild, Robert A

2009-07-01

Polycystic ovary syndrome (PCOS), a condition of irregular menses and androgen excess, is the most common endocrinopathy of young women. Insulin resistance is a well-established feature among many women with PCOS, even in the nonobese. Therefore, it is not surprising that PCOS is frequently associated with cardiovascular risk factors and the metabolic syndrome. However, it is not known whether PCOS is an independent risk factor for atherosclerosis and cardiovascular (CV) events or whether CV risk is attributable to associated risk factors. We review previous studies on CV risk and disease in women with PCOS, describing the pitfalls and challenges in ascribing CV risk to PCOS. Women with PCOS might be partly reassured that their relative risk approximates that of the metabolic syndrome (RR 1.5) and also strongly counseled at the individual level about the greatest potential threat to their CV health, the development of type 2 diabetes.

Metabolic Evidence of Diminished Lipid Oxidation in Women With Polycystic Ovary Syndrome

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Whigham, Leah D.; Butz, Daniel E.; Dashti, Hesam; Tonelli, Marco; Johnson, LuAnn K.; Cook, Mark E.; Porter, Warren P.; Eghbalnia, Hamid R.; Markley, John L.; Lindheim, Steven R.; Schoeller, Dale A.; Abbott, David H.; Assadi-Porter, Fariba M.

2014-01-01

Polycystic ovary syndrome (PCOS), a common female endocrinopathy, is a complex metabolic syndrome of enhanced weight gain. The goal of this pilot study was to evaluate metabolic differences between normal (n=10) and PCOS (n=10) women via breath carbon isotope ratio, urinary nitrogen and nuclear magnetic resonance (NMR)-determined serum metabolites. Breath carbon stable isotopes measured by cavity ring down spectroscopy (CRDS) indicated diminished (pglucose tolerance test showed that a transient elevation in blood glucose levels decreased circulating levels of lipid, glucose and amino acid metabolic intermediates (acetone, 2-oxocaporate, 2-aminobutyrate, pyruvate, formate, and sarcosine) in PCOS women, whereas the 2 h glucose challenge led to increases in the same intermediates in normal women. These pilot data suggest that PCOS-related inflexibility in fasting-related switching between lipid and carbohydrate/protein utilization for carbon metabolism may contribute to enhanced weight gain. PMID:24765590

Diagnosis and Treatment of Polycystic Ovary Syndrome.

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Williams, Tracy; Mortada, Rami; Porter, Samuel

2016-07-15

Polycystic ovary syndrome is the most common endocrinopathy among reproductive-aged women in the United States, affecting approximately 7% of female patients. Although the pathophysiology of the syndrome is complex and there is no single defect from which it is known to result, it is hypothesized that insulin resistance is a key factor. Metabolic syndrome is twice as common in patients with polycystic ovary syndrome compared with the general population, and patients with polycystic ovary syndrome are four times more likely than the general population to develop type 2 diabetes mellitus. Patient presentation is variable, ranging from asymptomatic to having multiple gynecologic, dermatologic, or metabolic manifestations. Guidelines from the Endocrine Society recommend using the Rotterdam criteria for diagnosis, which mandate the presence of two of the following three findings- hyperandrogenism, ovulatory dysfunction, and polycystic ovaries-plus the exclusion of other diagnoses that could result in hyperandrogenism or ovulatory dysfunction. It is reasonable to delay evaluation for polycystic ovary syndrome in adolescent patients until two years after menarche. For this age group, it is also recommended that all three Rotterdam criteria be met before the diagnosis is made. Patients who have marked virilization or rapid onset of symptoms require immediate evaluation for a potential androgen-secreting tumor. Treatment of polycystic ovary syndrome is individualized based on the patient's presentation and desire for pregnancy. For patients who are overweight, weight loss is recommended. Clomiphene and letrozole are first-line medications for infertility. Metformin is the first-line medication for metabolic manifestations, such as hyperglycemia. Hormonal contraceptives are first-line therapy for irregular menses and dermatologic manifestations.

[Non-structural abnormalities of CNS function resulting in coincidence of endocrinopathies, epilepsy and psychoneurologic disorders in children and adolescents].

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Starzyk, Jerzy; Pituch-Noworolska, Anna; Pietrzyk, Jacek A; Urbanik, Andrzej; Kroczka, Sławomir; Drozdz, Ryszard; Wójcik, Małgorzata

2010-01-01

chiasm glioma (2 patients), suprasellar germinal tumor (1 patient), ii) children with Hashimoto encephalopathy (2 patients), iii) children with Prader-Willi syndrome (20 patients), with Klinefelter syndrome (10 patients), with Albright syndrome (9 patients). Of the 49 patients, a group of 6 children representative for individual disorders was selected. In those patients, the etiology of both endocrine disorders, epilepsy and neuropsychiatric disorders was suspected to be common, and the diagnosis was usually delayed. 1. Cranial irradiation and chemotherapy, encephalopathy associated with Hashimoto disease and some of the syndromes with the chromosomal and genetic background are the causes of non-structural CNS abnormalities and coincidence of endocrinopathies, epilepsy and psychoneurologic disorders. 2. MR/CT CNS imaging should be performed in any case of central neurological disorders, disorders of behavior, epilepsy or seizures, but also in patients with delayed psycho-motor development, delayed or accelerated growth and pubertal development. All of the above-mentioned manifestations may be symptoms of structural CNS abnormalities and their early treatment determines the child's future. 3. Excluding structural CNS abnormalities allows for forming suspicions associated with diseases resulting in non-structural disorders of the CNS function, predisposing to coincidence of endocrine and neurological disorders. 4. In the diagnosis of Hashimoto's encephalopathy, a decisive factor is exclusion of structural, infectious, traumatic and metabolic causes, intoxications, epilepsy and presence of neuropsychiatric symptoms in patients with high level of against TPO antibodies. In cases of steroids resistance, a good therapeutic effect may be achieved by plasmapheresis, Rituximab therapy and progestagene inhibition of the menstrual cycle.

Erythema elevatum et diutinum in a young man coexisting with autoimmune polyglandular syndrome type 3 – case report

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Małgorzata Tupikowska

2015-09-01

Full Text Available Introduction. Erythema elevatum et diutinum (EED is classified as a variant of leukocytoclastic vasculitis. The etiology of this disease is unknown. Erythema elevatum et diutinum may coexist with several systemic disorders including hematologic and rheumatologic diseases as well as type 1 diabetes, thyroid diseases and other endocrinopathies. Autoimmune polyglandular syndromes (APS are rarely diagnosed conditions characterized by the coexistence of at least two autoimmune endocrinopathies and non-endocrine autoimmunopathies. Objective. Presentation of a patient with EED coexisting with APS type 3. Case report. A 23-year-old male patient was admitted to our department due to nodular lesions lasting for 5 months, located on the extremities, which were diagnosed clinically and confirmed histopathologically as EED. In spite of skin lesions the patient suffered from diabetes mellitus type 1, hyperthyroidism, celiac disease, myopathy and idiopathic urticaria – abnormalities characteristic for APS type 3. Substantial clinical improvement was observed after systemic administration of dapsone and, due to upper respiratory tract infection, a few weeks of antibiotic therapy. Conclusions . We present this case due to the rarity of EED, especially coexisting with APS, and the good effect of therapy with dapsone and oral antibiotics.

Differential DNA methylation patterns of polycystic ovarian syndrome in whole blood of Chinese women.

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Li, Shuxia; Zhu, Dongyi; Duan, Hongmei; Ren, Anran; Glintborg, Dorte; Andersen, Marianne; Skov, Vibe; Thomassen, Mads; Kruse, Torben; Tan, Qihua

2017-03-28

As a universally common endocrinopathy in women of reproductive age, the polycystic ovarian syndrome is characterized by composite clinical phenotypes reflecting the contributions of reproductive impact of ovarian dysfunction and metabolic abnormalities with widely varying symptoms resulting from interference of the genome with the environment through integrative biological mechanisms including epigenetics. We have performed a genome-wide DNA methylation analysis on polycystic ovarian syndrome and identified a substantial number of genomic sites differentially methylated in the whole blood of PCOS patients and healthy controls (52 sites, false discovery rate ovarian tissue under PCOS condition. Most importantly, our genome-wide profiling focusing on PCOS patients revealed a large number of DNA methylation sites and their enriched functional pathways significantly associated with diverse clinical features (levels of prolactin, estradiol, progesterone and menstrual cycle) that could serve as novel molecular basis of the clinical heterogeneity observed in PCOS women.

Osteolytic-variant POEMS syndrome: an uncommon presentation of ''osteosclerotic'' myeloma

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Clark, Michael S.; Howe, Benjamin M.; Glazebrook, Katrina N.; Broski, Stephen M. [Mayo Clinic, Department of Radiology, Rochester, MN (United States); Mauermann, Michelle L. [Mayo Clinic, Department of Neurology, Rochester, MN (United States)

2017-06-15

Polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes (POEMS) syndrome, a form of osteosclerotic myeloma, is a multisystem disease related to a monoclonal plasma cell proliferative disorder. Osseous lesions are most commonly sclerotic on radiographs and computed tomography (CT), demonstrate low T1 and T2 signal intensity on magnetic resonance imaging (MRI), and have variable degrees of avidity on positon emission tomography (PET) imaging using 18-fluorodeoxyglucose ({sup 18}F-FDG). We present three cases of POEMS syndrome manifesting as osteolytic lesions with indolent features, including well-defined thin sclerotic rims, no cortical disruption or periosteal reaction, no associated soft-tissue mass, and a periarticular location, all features that could lead to misinterpretation as benign bone lesions. We also report increased T1 signal and diffuse solid enhancement of these lesions on MRI, features previously unreported. POEMS syndrome should not be discounted as a diagnostic consideration in the setting of osteolytic lesions with non-aggressive imaging characteristics on radiographs or CT, especially in the presence of other supportive clinical features. (orig.)

A case of hypopituitarism accompanying Kearns-Sayre syndrome treated with human chorionic gonadotropin: A case report and literature review.

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Kang, Y-X; Wang, Y-J; Zhang, Q; Pang, X-H; Gu, W

2017-10-01

Kearns-Sayre syndrome (KSS) is a disorder caused by mutations in mitochondrial DNA. Here, we report an unusual case of Kearns-Sayre syndrome accompanied by hypopituitarism (deficiencies in reproductive and growth hormones). A 20-year-old male presented with growth retardation for the last 8 years, as well as the following findings: short stature, delayed puberty, myasthenia, an extraocular movement deficit, drooping eyelids, pectus carinatum and scoliosis. Cerebral enhanced magnetic resonance imaging revealed dysplasias of the pituitary, white matter and cerebellum. Laboratory work-up showed subnormal testosterone and growth hormone levels, a subnormal testicular volume, sensorineural deafness, pigmentary retinopathy, complete right bundle branch block and left anterior bundle branch block. Pathological examination revealed ragged red muscle fibres. Thus, this rare case involved the coexistence of Kearns-Sayre syndrome and hypopituitarism in a patient. Administration of coenzyme Q10 for the KSS and hormone replacement therapy for the endocrinopathies were performed for treatment of this patient. © 2016 Blackwell Verlag GmbH.

Unusual headache syndromes.

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Queiroz, Luiz P

2013-01-01

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

Marfan syndrome (image)

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Marfan syndrome is a disorder of connective tissue which causes skeletal defects typically recognized in a tall, lanky person. A person with Marfan syndrome may exhibit long limbs and spider-like fingers, ...

Endocrinopathies after Allogeneic and Autologous Transplantation of Hematopoietic Stem Cells

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Francesco Orio

2014-01-01

Full Text Available Early and late endocrine disorders are among the most common complications in survivors after hematopoietic allogeneic- (allo- and autologous- (auto- stem cell transplant (HSCT. This review summarizes main endocrine disorders reported in literature and observed in our center as consequence of auto- and allo-HSCT and outlines current options for their management. Gonadal impairment has been found early in approximately two-thirds of auto- and allo-HSCT patients: 90–99% of women and 60–90% of men. Dysfunctions of the hypothalamus-pituitary-growth hormone/insulin growth factor-I axis, hypothalamus-pituitary-thyroid axis, and hypothalamus-pituitary-adrenal axis were documented as later complicances, occurring in about 10, 30, and 40–50% of transplanted patients, respectively. Moreover, overt or subclinical thyroid complications (including persistent low-T3 syndrome, chronic thyroiditis, subclinical hypo- or hyperthyroidism, and thyroid carcinoma, gonadal failure, and adrenal insufficiency may persist many years after HSCT. Our analysis further provides evidence that main recognized risk factors for endocrine complications after HSCT are the underlying disease, previous pretransplant therapies, the age at HSCT, gender, total body irradiation, posttransplant derangement of immune system, and in the allogeneic setting, the presence of graft-versus-host disease requiring prolonged steroid treatment. Early identification of endocrine complications can greatly improve the quality of life of long-term survivors after HSCT.

Insulin and the polycystic ovary syndrome.

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Macut, Djuro; Bjekić-Macut, Jelica; Rahelić, Dario; Doknić, Mirjana

2017-08-01

Polycystic ovary syndrome (PCOS) is the most prevalent endocrinopathy among women during reproductive age. PCOS is characterised by hyperandrogenaemia, hyperinsulinaemia, and deranged adipokines secretion from the adipose tissue. In addition to the reduced insulin sensitivity, PCOS women exhibit β-cell dysfunction as well. Low birth weight and foetal exposure to androgens may contribute to the development of the PCOS phenotype during life. Further metabolic complications lead to dyslipidaemia, worsening obesity and glucose tolerance, high prevalence of metabolic syndrome, and greater susceptibility to diabetes. PCOS women show age-related existence of hypertension, and subtle endothelial and vascular changes. Adverse reproductive outcomes include anovulatory infertility, and unrecognised potentiation of the hormone-dependent endometrial cancer. The main therapeutic approach is lifestyle modification. Metformin is the primary insulin-sensitising drug to be used as an adjuvant therapy to lifestyle modification in patients with insulin resistance and impaired glucose tolerance, as well as in those referred to infertility treatment. Thiazolidinediones should be reserved for women intolerant of or refractory to metformin, while glucagon-like peptide 1 analogues has a potential therapeutic use in obese PCOS women. Randomised clinical trials and repetitive studies on different PCOS phenotypes for the preventive actions and therapeutic options are still lacking, though. Copyright © 2017 Elsevier B.V. All rights reserved.

Evaluation of early atherosclerotic findings in women with polycystic ovary syndrome

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Mohammadi Afshin

2011-10-01

Full Text Available Background Polycystic ovary syndrome (PCOS is the most common endocrinopathy in women of childbearing age, and it seems better to consider it as an ovarian manifestation of metabolic syndrome. The aim of the current study was to evaluate early atherosclerotic findings in patients with PCOS. Methods We enrolled 46 women with PCOS and 45 normal control subjects who were referred to our hospital's endocrinology outpatient clinic. Carotid intima media thickness (CIMT and flow-mediated dilatation (FMD were performed in both cases and matched controls. Results Patients with PCOS showed an increased mean CIMT (0.63 ± 0.16 mm when compared with the control subjects (0.33 ± 0.06 mm. This difference was statistically significant (p = 0.001. The mean FMD in young patients with PCOS was 10.07 ± 1.2%, while it was 6.5 ± 2.06% in normal subjects. This difference was also statistically significant (p = 0.001. Conclusion Our findings suggest that PCOS is related with early atherosclerotic findings.

Non-analgesic effects of opioids: opioids and the endocrine system.

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Elliott, Jennifer A; Opper, Susan E; Agarwal, Sonali; Fibuch, Eugene E

2012-01-01

Opioids are among the oldest known and most widely used analgesics. The application of opioids has expanded over the last few decades, especially in the treatment of chronic non-malignant pain. This upsurge in opioid use has been accompanied by the increasingly recognized occurrence of opioid-associated endocrinopathy. This may arise after exposure to enteral, parenteral, or neuraxial opioids. Opioid-associated endocrinopathy consists primarily of hypothalamic-pituitary-gonadal axis or hypothalamic-pituitary-adrenal axis dysfunction and may manifest with symptoms of hypogonadism, adrenal dysfunction, and other hormonal disturbances. Additionally, opioid related endocrine dysfunction may be coupled with such disorders as osteoporosis and mood disturbances including depression. Undesirable changes in pain sensitivity such as opioid-induced hyperalgesia, and reduced potency of opioid analgesia may also be potential consequences of chronic opioid consumption. Few studies to date have been able to establish what degree of opioid exposure, in terms of dose or duration of therapy, may predispose patients to opioid-associated endocrinopathy. This article will review the currently available literature concerning opioid-associated endocrinopathy and will provide recommendations for the evaluation, monitoring, and management of opioid-associated endocrinopathy and its other accompanying undesired effects.

Importance of recognizing Ehlers Danlos syndrome by dentists: a case report

Directory of Open Access Journals (Sweden)

F. Jamali

1994-06-01

Full Text Available This syndrome is a genetical disorder with symptoms result from deficit in the formation of connective tissue, especially collagen fiber biosynthesis. In these patients, there is hyperelasticity and fragility of the skin and mucosa. Injuries sever bleeding, internal bleeding and hemartrosis may be seen in these patients. Wounds leave scars after healing. There is recurrent dislocation of the joints, especially knee and temporomandibular joints. Dentists should know the symptoms of this syndrome and its complications during dental treatments.

Potential role of retinoids in ovarian physiology and pathogenesis of polycystic ovary syndrome.

Science.gov (United States)

Jiang, Yanwen; Li, Chunjin; Chen, Lu; Wang, Fengge; Zhou, Xu

2017-06-01

Retinoids (retinol and its derivatives) are required for maintaining vision, immunity, barrier function, reproduction, embryogenesis, cell proliferation and differentiation. Furthermore, retinoid signaling plays a key role in initiating meiosis of germ cells of the mammalian fetal ovary. Recently, studies indicated that precise retinoid level regulation in the ovary provides a molecular control of ovarian development, steroidogenesis and oocyte maturation. Besides, abnormal retinoid signaling may be involved in the pathogenesis of polycystic ovary syndrome (PCOS), one of the most common ovarian endocrinopathies in reproductive-aged women worldwide. This review primarily summarizes recent advancements made in investigating the action of retinoid signaling in ovarian physiology as well as the abnormal retinoid signaling in PCOS. Copyright © 2017. Published by Elsevier B.V.

Impact of endocrine hyperfunction and phosphate wasting on bone in McCune-Albright syndrome.

Science.gov (United States)

Lala, R; Matarazzo, P; Andreo, M; Defilippi, C; de Sanctis, C

2002-01-01

Skin dysplasia, as café-au-lait spots, bone fibrous dysplasia and peripheral endocrinopathies are the main clinical features of McCune-Albright syndrome (MAS). This illness is due to activating mutations of the Gsalpha protein and is spread with a mosaic pattern in affected tissues that consist of intermixed areas of normal and mutated cells. Peripheral endocrine secretion, free of hypothalamic pituitary control, is the hallmark of the endocrine syndromes: precocious puberty, Cushing's syndrome, hyperthyroidism and gigantism/acromegaly. In addition, phosphate wasting as hyperphosphaturia is often present. The impact of hormonal hypersecretion and phosphate loss on the bones of patients with MAS is poorly understood both in normal and fibrous bone tissue. As hypercortisolism and hyperthyroidism increase bone resorption, hyperestrogenism and growth hormone hypersecretion stimulate bone growth and mineralization, and phosphate wasting reduces bone mineral content. All these actions can be exerted at varying times and degrees in a single patient on lesional and non-lesional bones. Sonographic evidence of multiple diffused hyperechogenic spots in the testes of patients with MAS do not seem to be related to alterations in calcium-phosphate metabolism but rather to zonal dysplasia/hyperplasia of testicular tissue.

Non-infectious chemotherapy-associated acute toxicities during childhood acute lymphoblastic leukemia therapy

DEFF Research Database (Denmark)

Schmiegelow, Kjeld; Müller, Klaus Gottlob; Mogensen, Signe Sloth

2017-01-01

obstruction syndrome, endocrinopathies (especially steroid-induced adrenal insufficiency and hyperglycemia), high-dose methotrexate-induced nephrotoxicity, asparaginase-associated hypersensitivity, pancreatitis, and hyperlipidemia. Few of the non-infectious acute toxicities are associated with clinically...

Refeeding syndrome: a clinical review.

Science.gov (United States)

Ormerod, Clare; Farrer, Kirstine; Harper, Lindsay; Lal, Simon

2010-12-01

Refeeding syndrome can result in a wide variety of complications and may be life threatening. Although well described in hospital practice, refeeding syndrome is often under-recognized and inadequately treated.

The prevalence of metabolic disorders in various phenotypes of polycystic ovary syndrome: a community based study in Southwest of Iran.

Science.gov (United States)

Tehrani, Fahimeh Ramezani; Rashidi, Homeira; Khomami, Mahnaz Bahri; Tohidi, Maryam; Azizi, Fereidoun

2014-09-16

Polycystic ovary syndrome (PCOS) is a common endocrinopathy, associated with metabolic abnormalities. Metabolic features of various phenotypes of this syndrome are still debatable. The aim of present study hence was to evaluate the metabolic and hormonal features of PCOS phenotypes in comparison to a group of healthy control. A total of 646 reproductive-aged women were randomly selected using the stratified, multistage probability cluster sampling method. The subjects were divided into five phenotypes: A (oligo/anovulation + hyperandrogenism + polycystic ovaries), B (oligo/anovulation + hyperandrogenism), C (hyperandrogenism + polycystic ovaries) and D (oligo/anovulation + polycystic ovaries). Hormonal and metabolic profiles and the prevalence of metabolic syndrome among these groups were compared using ANCOVA adjusted for age and body mass index. Among women with PCOS (n = 85), those of groups A and C had higher serum levels of insulin and homeostatic model assessment for insulin resistance (HOMA-IR), compared to PCOS women of group D. Serum concentrations of cholesterol, low density lipoprotein, triglycerides and glucose in group A were higher than in other phenotypes, whereas the metabolic syndrome was more prevalent among group B. Women who had all three components of the syndrome showed the highest level of metabolic disturbances indicating that metabolic screening of the severest phenotype of PCOS may be necessary.

Roberts-SC syndrome, a rare syndrome and cleft palate repair

Directory of Open Access Journals (Sweden)

Murthy Jyotsna

2008-01-01

Full Text Available Roberts SC syndrome is a rare syndrome with only 17 previously recognized patients reported in medical literature. The syndrome is characterized by multiple malformations, particularly, symmetrical limb reduction, craniofacial anomalies such as bilateral cleft lip and palate, micrognathia, and severe growth and mental retardation. Our patient, a young child of five years having Roberts-SC, was successfully operated for cleft palate under general anesthesia. The main features of the syndrome and the technical problems of anesthesia and surgery are discussed in this report.

Classical cornelia de lange syndrome | Badoe | Ghana Medical ...

African Journals Online (AJOL)

These two case reports illustrate the importance of doing a thorough dysmorphology examination for all so called “Multiple congenital anomalies” children and attempting to fit them into a recognized syndrome. Well over 2000 dysmorphic syndromes are now recognized and diagnosis of these children can be extremely ...

Laminitis and the equine metabolic syndrome.

Science.gov (United States)

Johnson, Philip J; Wiedmeyer, Charles E; LaCarrubba, Alison; Ganjam, V K Seshu; Messer, Nat T

2010-08-01

Although much has been written about laminitis in the context of its association with inflammatory processes, recognition is growing that most cases of laminitis examined by veterinarians in private practice are those associated with pasture grazing, obesity, and insulin resistance (IR). The term 'endocrinopathic laminitis' has been adopted to classify the instances of laminitis in which the origin seems to be more strongly associated with an underlying endocrinopathy, such as either IR or the influence of corticosteroids. Results of a recent study suggest that obesity and IR represent the most common metabolic and endocrinopathic predispositions for laminitis in horses. IR also plays an important role in the pathogenesis of laminitis that develops when some horses or ponies are allowed to graze pastures at certain times of the year. The term equine metabolic syndrome (EMS) has been proposed as a label for horses whose clinical examination results (including both physical examination and laboratory testing) suggest heightened risk for developing laminitis as a result of underlying IR. Copyright (c) 2010 Elsevier Inc. All rights reserved.

Present status of understanding on the genetic etiology of polycystic ovary syndrome.

Science.gov (United States)

Dasgupta, S; Reddy, B Mohan

2008-01-01

Polycystic ovary syndrome (PCOS) is the most common endocrinopathy in women of reproductive age with a prevalence of approximately 7-10% worldwide. PCOS reflects multiple potential aetiologies and variable clinical manifestations. This syndrome is characterized by serious health implications such as diabetes, coronary heart diseases and cancer and also leads to infertility. PCOS can be viewed as a heterogeneous androgen excess disorder with varying degrees of reproductive and metabolic abnormalities determined by the interaction of multiple genetic and environmental factors. In this paper, we have attempted a comprehensive review of primarily molecular genetic studies done so far on PCOS. We have also covered the studies focusing on the environmental factors and impact of ethnicity on the presentation of this syndrome. A large number of studies have been attempted to understand the aetiological mechanisms behind PCOS both at the clinical and molecular genetic levels. In the Indian context, majority of the PCOS studies have been confined to the clinical dimensions. However, a concrete genetic mechanism behind the manifestation of PCOS is yet to be ascertained. Understanding of this complex disorder requires comprehensive studies incorporating relatively larger homogenous samples for genetic analysis and taking into account the ethnicity and the environmental conditions of the population/cohort under study. Research focused on these aspects may provide better understanding on the genetic etiology and the interaction between genes and environment, which may help develop new treatment methods and possible prevention of the syndrome.

Present status of understanding on the genetic etiology of polycystic ovary syndrome

Directory of Open Access Journals (Sweden)

Dasgupta S

2008-01-01

Full Text Available Polycystic ovary syndrome (PCOS is the most common endocrinopathy in women of reproductive age with a prevalence of approximately 7-10% worldwide. PCOS reflects multiple potential aetiologies and variable clinical manifestations. This syndrome is characterized by serious health implications such as diabetes, coronary heart diseases and cancer and also leads to infertility. PCOS can be viewed as a heterogeneous androgen excess disorder with varying degrees of reproductive and metabolic abnormalities determined by the interaction of multiple genetic and environmental factors. In this paper, we have attempted a comprehensive review of primarily molecular genetic studies done so far on PCOS. We have also covered the studies focusing on the environmental factors and impact of ethnicity on the presentation of this syndrome. A large number of studies have been attempted to understand the aetiological mechanisms behind PCOS both at the clinical and molecular genetic levels. In the Indian context, majority of the PCOS studies have been confined to the clinical dimensions. However, a concrete genetic mechanism behind the manifestation of PCOS is yet to be ascertained. Understanding of this complex disorder requires comprehensive studies incorporating relatively larger homogenous samples for genetic analysis and taking into account the ethnicity and the environmental conditions of the population/cohort under study. Research focused on these aspects may provide better understanding on the genetic etiology and the interaction between genes and environment, which may help develop new treatment methods and possible prevention of the syndrome.

Phenotypic expression of polycystic ovary syndrome in South Asian women.

Science.gov (United States)

Mehta, Jaya; Kamdar, Vikram; Dumesic, Daniel

2013-03-01

Polycystic ovary syndrome (PCOS) occurs in 6% to 10% of women and, as the most common worldwide endocrinopathy of reproductive-aged women, is linked to a constellation of reproductive and metabolic abnormalities, including anovulatory infertility, hirsutism, acne, and insulin resistance in association with metabolic syndrome. Despite a genetic component to PCOS, ethnicity plays an important role in the phenotypic expression of PCOS, with South Asian PCOS women having more severe reproductive and metabolic symptoms than other ethnic groups. South Asians with PCOS seek medical care at an earlier age for reproductive abnormalities; have a higher degree of hirsutism, infertility, and acne; and experience lower live birth rates following in vitro fertilization than do whites with PCOS. Similarly, South Asians with PCOS have a higher prevalence of insulin resistance and metabolic syndrome than do other PCOS-related ethnic groups of a similar body mass index. Inheritance of PCOS appears to have a complex genetic basis, including genetic differences based on ethnicity, which interact with lifestyle and other environmental factors to affect PCOS phenotypic expression. Obstetricians and Gynecologists, Family Physicians Learning Objectives: After completing this CME activity, physicians should be better able to state an ethnic difference in reproductive dysfunction between South Asian and white women with polycystic ovary syndrome (PCOS), state an ethnic difference in metabolic dysfunction between South Asian and white women with PCOS, identify a genetic abnormality found in South Asian women with PCOS, and list 2 environmental factors that predispose South Asian women to metabolic dysfunction.

TAFRO Syndrome.

Science.gov (United States)

Igawa, Takuro; Sato, Yasuharu

2018-02-01

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

Abdominal compartment syndrome with acute reperfusion syndrome

International Nuclear Information System (INIS)

Maleeva, A.

2017-01-01

Abdominal compartment syndrome was recognized clinically in the 19th century when Marey and Burt observed its association with declines in respiratory function. Abdominal compartment syndrome is first used as a medical terminology from Fietsman in a case of ruptured abdominal aortic aneurysm. A condition caused by abnormally increased pressure within the abdomen. Causes of abdominal compartment syndrome include trauma, surgery, or infection. Common symptoms: abdominal distension, fast heart rate, insufficient urine production, or low blood pressure Medical procedure: nasogastric intubation Surgery: laparotomy Specialists: radiologist, primary care provider (PCP), surgeon, and emergency medicine doctor [6, 10]. Keywords: Stomach. Gastroparesis . Diabetes Mellitus [bg

Management of Lowe syndrome: a case report

Directory of Open Access Journals (Sweden)

Risky Vitria Prasetyo

2015-06-01

Full Text Available Lowe syndrome (the oculocerebrorenal syndrome of Lowe, OCRL is a multisystem disorder characterized by anomalies affecting the eyes, nervous system and kidneys.1-3 The disorder was first recognized by Lowe et al. in 1952, and described as a unique syndrome with organic aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation. In 1954, renal Fanconi syndrome was recognized as being associated with Lowe syndrome and in 1965, a recessive X-linked pattern of inheritance was determined.2,4 Lowe syndrome is a very rare disease, with an estimated prevalence in the general population of 1 in 500,000. According to the Lowe Syndrome Association (LSA in the USA, the estimated prevalence is between 1 and 10 affected males in 1,000,000 people, with 190 living in the year 2000. The Italian Association of Lowe Syndrome estimated that there were 34 Lowe syndrome patients (33 boys and one girl living in Italy in the year 2005.2,4,5 It almost exclusively affects males.6 Physicians may not be familiar with Lowe syndrome due to its rarity.4

Effects of orlistat on serum androgen levels among iranian obese women with polycystic ovarian syndrome.

Science.gov (United States)

Salehpour, Saghar; Hosseini, Sedighe; Nazari, Leila; Saharkhiz, Nasrin; Zademodarres, Shahrzad

2018-05-14

Polycystic ovary syndrome is one of the most common endocrinopathies in young women, and it affects 6% to 8% of women in reproductive age. Hyperandrogenism is the hallmark of polycystic ovary syndrome. The aim of the present study was to evaluate the effects of orlistat on weight loss and serum androgen levels among Iranian women with polycystic ovary syndrome. The present study was carried out in the clinic of Infertility and Reproductive Health Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Thirty-two patients with polycystic ovary syndrome were randomly enrolled. We measured serum androgens (Testosterone, 17α-hydroxyprogesterone, dehydroepiandrosterone and sex hormone-binding globulin) before and after 12 weeks of treatment with orlistat. We used the Rotterdam Criteria for all patients and transvaginal sonography was performed. The mean age of patients was 27.75±6.22 and the mean body mass index was 32.69±0.94 kg/m2. Comparing with baseline, treatment with orlistat resulted in a significant reduction in weight, BMI, and waist circumference (p=0.001). We also found a remarkable reduction in total testosterone levels (p>0.001). Treatment improved the sex hormone-binding globulin plasma levels, but the improvement was not statistically significant. There was no reduction in other androgen levels. This study showed a significant reduction of weight and total testosterone level - the most important androgen in polycystic ovary syndrome - after 12 weeks of treatment with orlistat. Therefore, it seems that a short course of orlistat can be useful in the management of patients with polycystic ovary syndrome.

What do we know about metabolic syndrome in adolescents with PCOS?

Science.gov (United States)

Cırık, Derya Akdağ; Dilbaz, Berna

2014-01-01

Polycystic ovary syndrome (PCOS) is the most common endocrinopathy of reproductive-aged women that manifests itself with a variety of features. For this reason, three different diagnostic criteria have been introduced. For adults, the National Institutes of Health Conference (NIH) criteria, which consists of hyperandrogenism and oligo-anovulation, is the most widely used. Symptoms of PCOS usually start with puberty and may overlap with normal pubertal development. Hormonal fluctuations during this period make the diagnosis of PCOS more difficult. Until now, there is no validated diagnostic criteria for PCOS in adolescents. Although menstrual disorders and cosmetic problems are the most common complaints of adolescents with PCOS, patients should also be evaluated for the potential risk for insulin resistance, obesity, subclinical atherosclerosis, diabetes, metabolic syndrome and cardiovascular disease. Obesity is the most prominent predictor of metabolic syndrome. As the incidence of obesity is increasing both in childhood and adolescence, governments will be faced with a social and economic burden in the future. Adolescents with PCOS are more obese than normal adolescents and have an increased risk of metabolic syndrome. It is suggested that abdominal adiposity increases the risk of metabolic syndrome by inducing various cytokine secretions. Although there is no consensus on metabolic syndrome criteria in the adolescent period, International Diabetes Federation (IDF) criteria may be used for children older than 10 years. Various clinical and metabolic markers are investigated for the prediction of metabolic syndrome in the literature. Waist circumference, serum triglycerides and androgens are the suspected predictors of metabolic syndrome. The prevention of abdominal adiposity and the early diagnosis of PCOS in adolescence should be the main target for the prevention of metabolic syndrome. Clinicians should investigate adolescents with PCOS for metabolic and

What do we know about metabolic syndrome in adolescents with PCOS?

Science.gov (United States)

Cırık, Derya Akdağ; Dilbaz, Berna

2014-01-01

Polycystic ovary syndrome (PCOS) is the most common endocrinopathy of reproductive-aged women that manifests itself with a variety of features. For this reason, three different diagnostic criteria have been introduced. For adults, the National Institutes of Health Conference (NIH) criteria, which consists of hyperandrogenism and oligo-anovulation, is the most widely used. Symptoms of PCOS usually start with puberty and may overlap with normal pubertal development. Hormonal fluctuations during this period make the diagnosis of PCOS more difficult. Until now, there is no validated diagnostic criteria for PCOS in adolescents. Although menstrual disorders and cosmetic problems are the most common complaints of adolescents with PCOS, patients should also be evaluated for the potential risk for insulin resistance, obesity, subclinical atherosclerosis, diabetes, metabolic syndrome and cardiovascular disease. Obesity is the most prominent predictor of metabolic syndrome. As the incidence of obesity is increasing both in childhood and adolescence, governments will be faced with a social and economic burden in the future. Adolescents with PCOS are more obese than normal adolescents and have an increased risk of metabolic syndrome. It is suggested that abdominal adiposity increases the risk of metabolic syndrome by inducing various cytokine secretions. Although there is no consensus on metabolic syndrome criteria in the adolescent period, International Diabetes Federation (IDF) criteria may be used for children older than 10 years. Various clinical and metabolic markers are investigated for the prediction of metabolic syndrome in the literature. Waist circumference, serum triglycerides and androgens are the suspected predictors of metabolic syndrome. The prevention of abdominal adiposity and the early diagnosis of PCOS in adolescence should be the main target for the prevention of metabolic syndrome. Clinicians should investigate adolescents with PCOS for metabolic and

OCCIPITAL LOBE SYNDROME

OpenAIRE

Shahdevi Nandar Kurniawan

2016-01-01

The ability to recognize objects and words is not just depend on the integrity of visual pathway and primary vision area on cerebral cortex (Brodmann area 17), but also secondary vision area 18 and tertiary vision area 19 on occipital lobe. Lesion in occipital lobe could disturb of human visual function such as visual field defects, inability to recognize colors, inability to recognize words, visual hallucinations and illusions, occipital lobe epilepsy, and Anton’s syndrome. Some causes of oc...

Reversible adrenal insufficiency and heterophile antibodies in a case of autoimmune polyendocrinopathy syndrome.

Science.gov (United States)

Kharb, Sandeep; Gundgurthi, Abhay; Dutta, Manoj K; Garg, M K

2013-12-01

A 27-year-old male was admitted with diabetic ketoacidosis and altered sensorium with slurring of speech and ataxia. He was managed with intravenous insulin and fluids and later shifted to basal bolus insulin regimen and during further evaluation was diagnosed to be suffering from primary hypothyroidism and adrenal insufficiency. He was started on thyroxin replacement and steroids only during stress. After three months of follow up he was clinically euthyroid. His glycemic control was adequate on oral anti-hyperglycemic drugs and adrenal insufficiency recovered. However, his thyrotropin levels were persistently elevated on adequate replacement doses of thyroxin. His repeat TSH was estimated after precipitating serum with polyethylene glycol which revealed normal TSH. Here we report reversible adrenal insufficiency with hypothyroidism with falsely raised TSH because of presence of heterophile antibodies in a case of poly glandular endocrinopathy syndrome.

Cardiometabolic risk in patients with polycystic ovary syndrome.

Science.gov (United States)

Ozegowska, Katarzyna; Pawelczyk, Leszek

2015-11-01

Polycystic ovary syndrome (PCOS) is a common endocrinopathy in premenopausal women, associated with risk of metabolic syndrome and cardiovascular disease (CVD). CVD risk evaluation is recommended for PCOS patients. This study aimed to evaluate the risk of CVD in PCOS patients and to identify the best predictors for metabolic and cardiovascular disturbances. The study included 169 PCOS patients and 110 healthy women in reproductive age. We estimated cardiovascular risk according to American Heart Association and Androgen Excess-PCOS Society criteria that classified patients as metabolically unhealthy (MU) or metabolically healthy (MH). The PCOS group had significantly higher body mass index (BMI), waist circumference, and waist-to-hip ratio (P PCOS patients (8.9%). No obesity was observed in the control group. Waist circumference ≥ 80 cm was presented in 44% of PCOS patients in comparison to 14.5% of control participants (P PCOS population (P PCOS-MH group had the highest high-density lipoprotein (HDL) levels. ROC curves were used to indicate parameters diagnosing metabolically unhealthy women and revealed that WC, BMI and HC seem to be the strongest predictors of metabolic disturbances in PCOS but in the healthy population in reproductive age biochemical findings such as low HDL or increased fasting glycemia presented stronger predictive value than patients' anthropometric features. Physicians need to remember to adopt different diagnostic approach while seeking metabolic complications in these different groups of women.

Beyond the cardiorenal anaemia syndrome : recognizing the role of iron deficiency

NARCIS (Netherlands)

Macdougall, Iain C.; Canaud, Bernard; de Francisco, Angel L. M.; Filippatos, Gerasimos; Ponikowski, Piotr; Silverberg, Donald; van Veldhuisen, Dirk J.; Anker, Stefan D.

Growing awareness that heart failure, renal impairment, and anaemia are frequent co-morbidities which can exacerbate one another in a vicious circle of clinical deterioration has led to the concept of the cardiorenal anaemia syndrome (CRAS). The role of iron deficiency within this complex interplay

Cerebral arteriovenous malformation in Noonan's syndrome.

OpenAIRE

Schon, F.; Bowler, J.; Baraitser, M.

1992-01-01

Noonan's syndrome involves the association of multiple congenital abnormalities including neck webbing, pectus excavatum, facial anomalies with a variety of cardiac defects. In this paper the association of Noonan's syndrome with a large cerebral arteriovenous malformation is reported. Congenital cerebrovascular abnormalities are not a recognized feature of the syndrome. The paper also reviews previous reports of neurological associations with Noonan's syndrome, the commonest being mild intel...

Growth Hormone and Endocrinopathies

Energy Technology Data Exchange (ETDEWEB)

Kim, K W; Choe, K O; Park, C Y; Lee, H; Son, H Y; Huh, K B; Ryu, K J [Yonsei University College of Medicine, Seoul (Korea, Republic of)

1979-03-15

This is an analysis of 39 patients studied at the Yonsei Medical Center from January, 1976 to March 1979. Of these 35 patient were suspected of having hypothalamic insufficiency and subjected to the L-Dopa stimulation test to observe growth hormone secretary function while four acromegaly patient received the glucose loading test and L-Dopa stimulation test. The results are as follows: 1) The basal level of GH in the various disease was as follows: a) The basal level was lower than the control level but was not statistically significant b) In diabetes the mean value tended to higher than the control level but was not significant statistically c) In all four acromegaly patients the GH level was significantly higher than the control level 2) Of 13 patients with diabetes, nine had diabetic retinopathy, and of those nine, six showed increased L-Dopa response. However, of the four non retinopathic DM patients, only one showed increased response to L-Dopa. 3) Two patients out of ten with Sheehan's syndrome responded to L-Dopa stimulation. 4) One Patient of eight with pituitary chromophobe adenoma responded to L-Dopa stimulation. 5) Four acromegaly patients revealed 3 acidophilic adenoma and one chromophobe adenoma histologically. Of patients receiving the L-Dopa stimulation test. Two showed a paradoxical response. Two patients who received the glucose loading test showed suppressed response. 6) Of two craniopharyngioma patients, one showed increased GH response after L-Dopa stimulation. Increased response of GH after L-Dopa stimulation was seen in one two craniopharyngioma patients and also in one of two patients with short structure.

Growth Hormone and Endocrinopathies

Energy Technology Data Exchange (ETDEWEB)

Kim, K. W.; Choe, K. O.; Park, C. Y.; Lee, H.; Son, H. Y.; Huh, K. B.; Ryu, K. J. [Yonsei University College of Medicine, Seoul (Korea, Republic of)

1979-03-15

This is an analysis of 39 patients studied at the Yonsei Medical Center from January, 1976 to March 1979. Of these 35 patient were suspected of having hypothalamic insufficiency and subjected to the L-Dopa stimulation test to observe growth hormone secretary function while four acromegaly patient received the glucose loading test and L-Dopa stimulation test. The results are as follows: 1) The basal level of GH in the various disease was as follows: a) The basal level was lower than the control level but was not statistically significant b) In diabetes the mean value tended to higher than the control level but was not significant statistically c) In all four acromegaly patients the GH level was significantly higher than the control level 2) Of 13 patients with diabetes, nine had diabetic retinopathy, and of those nine, six showed increased L-Dopa response. However, of the four non retinopathic DM patients, only one showed increased response to L-Dopa. 3) Two patients out of ten with Sheehan's syndrome responded to L-Dopa stimulation. 4) One Patient of eight with pituitary chromophobe adenoma responded to L-Dopa stimulation. 5) Four acromegaly patients revealed 3 acidophilic adenoma and one chromophobe adenoma histologically. Of patients receiving the L-Dopa stimulation test. Two showed a paradoxical response. Two patients who received the glucose loading test showed suppressed response. 6) Of two craniopharyngioma patients, one showed increased GH response after L-Dopa stimulation. Increased response of GH after L-Dopa stimulation was seen in one two craniopharyngioma patients and also in one of two patients with short structure.

Growth Hormone and Endocrinopathies

International Nuclear Information System (INIS)

Kim, K. W.; Choe, K. O.; Park, C. Y.; Lee, H.; Son, H. Y.; Huh, K. B.; Ryu, K. J.

1979-01-01

This is an analysis of 39 patients studied at the Yonsei Medical Center from January, 1976 to March 1979. Of these 35 patient were suspected of having hypothalamic insufficiency and subjected to the L-Dopa stimulation test to observe growth hormone secretary function while four acromegaly patient received the glucose loading test and L-Dopa stimulation test. The results are as follows: 1) The basal level of GH in the various disease was as follows: a) The basal level was lower than the control level but was not statistically significant b) In diabetes the mean value tended to higher than the control level but was not significant statistically c) In all four acromegaly patients the GH level was significantly higher than the control level 2) Of 13 patients with diabetes, nine had diabetic retinopathy, and of those nine, six showed increased L-Dopa response. However, of the four non retinopathic DM patients, only one showed increased response to L-Dopa. 3) Two patients out of ten with Sheehan's syndrome responded to L-Dopa stimulation. 4) One Patient of eight with pituitary chromophobe adenoma responded to L-Dopa stimulation. 5) Four acromegaly patients revealed 3 acidophilic adenoma and one chromophobe adenoma histologically. Of patients receiving the L-Dopa stimulation test. Two showed a paradoxical response. Two patients who received the glucose loading test showed suppressed response. 6) Of two craniopharyngioma patients, one showed increased GH response after L-Dopa stimulation. Increased response of GH after L-Dopa stimulation was seen in one two craniopharyngioma patients and also in one of two patients with short structure.

Prenatal diagnosis of fetal syndromes

International Nuclear Information System (INIS)

Murthy, BS Rama

2008-01-01

A syndrome is a pattern of multiple anomalies arising due to a single known causative factor. Ultrasonography has enabled us to recognize many fetal anomalies and dysmorphic features. Recognition of the anomaly pattern leads to the diagnosis of a particular syndrome. This enables us to counsel prospective parents and aids in management. We present a selection of fetal syndromes in the form of a pictorial essay

Short-lasting headache syndromes and treatment options.

Science.gov (United States)

Rozen, Todd D

2004-08-01

A number of primary headache syndromes are marked by their short duration of pain. Many of these syndromes have their own unique treatment, so they must be recognized by practicing physicians. In this article, a number of the short-lasting headache disorders are reviewed, including chronic paroxysmal hemicrania, SUNCT syndrome, hypnic headache, exploding head syndrome, primary stabbing headache, and cough headache.

[Refeeding syndrome in geriatric patients : A frequently overlooked complication].

Science.gov (United States)

Wirth, Rainer; Diekmann, Rebecca; Fleiter, Olga; Fricke, Leonhardt; Kreilkamp, Annika; Modreker, Mirja Katrin; Marburger, Christian; Nels, Stefan; Schaefer, Rolf; Willschrei, Heinz-Peter; Volkert, Dorothee

2018-01-01

The refeeding syndrome is a life-threatening complication that can occur after initiation of a nutrition therapy in malnourished patients. If the risk factors and pathophysiology are known, the refeeding syndrome can effectively be prevented and treated, if recognized early. A slow increase of food intake and the close monitoring of serum electrolyte levels play an important role. Because the refeeding syndrome is not well known and the symptoms may vary extremely, this complication is poorly recognized, especially against the background of geriatric multimorbidity. This overview is intended to increase the awareness of the refeeding syndrome in the risk group of geriatric patients.

Nonalcoholic fatty liver disease and polycystic ovary syndrome

Science.gov (United States)

Vassilatou, Evangeline

2014-01-01

Nonalcoholic fatty liver disease (NAFLD) is the most common cause of chronic liver disease in the Western world comprising a spectrum of liver damage from fatty liver infiltration to end-stage liver disease, in patients without significant alcohol consumption. Increased prevalence of NAFLD has been reported in patients with polycystic ovary syndrome (PCOS), one of the most common endocrinopathies in premenopausal women, which has been redefined as a reproductive and metabolic disorder after the recognition of the important role of insulin resistance in the pathophysiology of the syndrome. Obesity, in particular central adiposity and insulin resistance are considered as the main factors related to NAFLD in PCOS. Moreover, existing data support that androgen excess, which is the main feature of PCOS and is interrelated to insulin resistance, may be an additional contributing factor to the development of NAFLD. Although the natural history of NAFLD remains unclear and hepatic steatosis seems to be a relatively benign condition in most patients, limited data imply that advanced stage of liver disease is possibly more frequent in obese PCOS patients with NAFLD. PCOS patients, particularly obese patients with features of the metabolic syndrome, should be submitted to screening for NAFLD comprising assessment of serum aminotransferase levels and of hepatic steatosis by abdominal ultrasound. Lifestyle modifications including diet, weight loss and exercise are the most appropriate initial therapeutic interventions for PCOS patients with NAFLD. When pharmacologic therapy is considered, metformin may be used, although currently there is no medical therapy of proven benefit for NAFLD. Long-term follow up studies are needed to clarify clinical implications and guide appropriate diagnostic evaluation, follow-up protocol and optimal treatment for PCOS patients with NAFLD. PMID:25024594

Nonalcoholic fatty liver disease and polycystic ovary syndrome.

Science.gov (United States)

Vassilatou, Evangeline

2014-07-14

Nonalcoholic fatty liver disease (NAFLD) is the most common cause of chronic liver disease in the Western world comprising a spectrum of liver damage from fatty liver infiltration to end-stage liver disease, in patients without significant alcohol consumption. Increased prevalence of NAFLD has been reported in patients with polycystic ovary syndrome (PCOS), one of the most common endocrinopathies in premenopausal women, which has been redefined as a reproductive and metabolic disorder after the recognition of the important role of insulin resistance in the pathophysiology of the syndrome. Obesity, in particular central adiposity and insulin resistance are considered as the main factors related to NAFLD in PCOS. Moreover, existing data support that androgen excess, which is the main feature of PCOS and is interrelated to insulin resistance, may be an additional contributing factor to the development of NAFLD. Although the natural history of NAFLD remains unclear and hepatic steatosis seems to be a relatively benign condition in most patients, limited data imply that advanced stage of liver disease is possibly more frequent in obese PCOS patients with NAFLD. PCOS patients, particularly obese patients with features of the metabolic syndrome, should be submitted to screening for NAFLD comprising assessment of serum aminotransferase levels and of hepatic steatosis by abdominal ultrasound. Lifestyle modifications including diet, weight loss and exercise are the most appropriate initial therapeutic interventions for PCOS patients with NAFLD. When pharmacologic therapy is considered, metformin may be used, although currently there is no medical therapy of proven benefit for NAFLD. Long-term follow up studies are needed to clarify clinical implications and guide appropriate diagnostic evaluation, follow-up protocol and optimal treatment for PCOS patients with NAFLD.

Elsberg syndrome: A rarely recognized cause of cauda equina syndrome and lower thoracic myelitis.

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Savoldi, Filippo; Kaufmann, Timothy J; Flanagan, Eoin P; Toledano, Michel; Weinshenker, Brian G

2017-07-01

Elsberg syndrome (ES) is an established but often unrecognized cause of acute lumbosacral radiculitis with myelitis related to recent herpes virus infection. We defined ES, determined its frequency in patients with cauda equina syndrome (CES) with myelitis, and evaluated its clinical, radiologic, and microbiologic features and outcomes. We searched the Mayo Clinic medical records for ES and subsequently for combinations of index terms to identify patients with suspected CES and myelitis. Our search yielded 30 patients, 2 diagnosed with ES and an additional 28 with clinical or radiologic evidence of CES retrospectively suspected of having ES. We classified patients in 5 groups according to diagnostic certainty. MRI and EMG confirmed that 2 had only myelitis, 5 only radiculitis, and 16 both. Two had preceding sacral herpes infection and 1 oral herpes simplex. Spinal cord lesions were commonly multiple, discontinuous, not expansile, and centrally or ventrally positioned. Lesions generally spared the distal conus. Nerve root enhancement was occasionally prominent and was smooth rather than nodular. Lymphocytic CSF pleocytosis was common. Thirteen patients (43%) had viral isolation studies, which were commonly delayed; the delay may have accounted for the low rate of viral detection. Acyclovir was administered to 6 patients. Most patients recovered with sequelae; 1 patient experienced encephalomyelitis and died. ES is a definable condition likely responsible for 10% of patients with combined CES and myelitis. Radiologic findings are not entirely specific but may help in differentiating ES from some competing diagnostic considerations. We propose criteria to facilitate diagnosis.

Clinical Case of Immune Dysregulation, Polyendocrinopaty, Enteropathy, X-Linked (IPEX Syndrome with Severe Immune Deficiency and Late Onset of Endocrinopathy and Enteropathy

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R. Savova

2014-01-01

Full Text Available Objective. To describe the clinical characteristics of IPEX syndrome in a child with FOXP3 mutation. Clinical Case. A boy aged 2.3 years was born from first normal pregnancy with a weight of 3420 gr. Family History. Two brothers of the mother died before the age of 3 years with severe infections, diarrhea, erythroderma, and elevated immunoglobulins class E (IgEs. Since first month of life, our patient suffered from septicemia, pneumonias, pyelonephritis, and meningitis, accompanied with eczematous dermatitis and IgEs up to 4000 IU/L (normal A, p. (Arg337Gln, which confirmed IPEX syndrome. The same mutation in heterozygotic state was found in the mother. A prenatal diagnosis of her second pregnancy ensured a daughter carrier of the mutation.

Metabolic Syndrome in Schizophrenia: A Non‑systematic Review

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Marta Nascimento

2012-12-01

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

Metabolic Syndrome in Schizophrenia: A Non‑systematic Review

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Marta Nascimento

2013-11-01

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

Considerations in Diagnosing Usher's Syndrome: RP and Hearing Loss.

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Vernon, McCay

1982-01-01

The association of hearing loss and retinitis pigmentosa has been generally recognized as the genetic disorder of Usher's syndrome. The article reviews findings of this syndrome and suggests strategies for dealing with the clinical and psychological problems displayed by Usher's syndrome patients. (Author/SW)

Recognizing Wellens’ syndrome, a warning sign of critical proximal LAD artery stenosis and impending anterior myocardial infarction

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Laura Hollar

2015-10-01

Full Text Available Wellens’ syndrome, also known as LAD coronary T-wave syndrome or the ‘widow maker’, is a pre-infarction syndrome with non-classical ischemic ECG changes and unremarkable cardiac biomarkers. This syndrome continues to be a ‘can't miss’ for the clinician as delay in urgent angiography and intervention can result in anterior myocardial infarction, left ventricular dysfunction, arrhythmias, and death. We describe a case followed by a discussion of identification criteria and clinical implications.

Background and treatment of metabolic syndrome: a therapeutic challenge

NARCIS (Netherlands)

van Zwieten, Pieter A.; Mancia, Giuseppe

2006-01-01

Metabolic syndrome is characterized by a clustering of cardiovascular and metabolic risk factors. This syndrome is now widely recognized as a distinct pathologic entity. It is receiving a great deal of attention in the medical literature and also in the lay press. People with metabolic syndrome have

Gigantism treated by pure endoscopic endonasal approach in a case of McCune-Albright syndrome with sphenoid fibrous dysplasia: a case report.

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Sharifi, Guive; Jalessi, Maryam; Sarvghadi, Farzaneh; Farhadi, Mohammad

2013-12-01

McCune-Albright syndrome (MAS) is an uncommon polyostotic manifestation of fibrous dysplasia in association with at least one endocrinopathy that is mostly associated with precocious puberty and hyperpigmented skin macules named café-au-lait spots. We present an atypical manifestation of McCune-Albright syndrome in a 19-year-old man with the uncommon association of polyostotic fibrous dysplasia and gigantism in the absence of café-au-lait spots and precocious puberty. He presented with a height increase to 202 cm in the previous 3 years, which had become more progressive in the few months prior. Physical examination revealed only a mild facial asymmetry; however, a computed tomography (CT) scan discovered vast areas of voluminous bones with ground-glass density and thickening involving the craniofacial bones and skull base. Magnetic resonance imaging (MRI) found a right stalk shift of the pituitary with a 20 mm pituitary adenoma. We describe the diagnostic and endoscopic endonasal transsphenoidal approach for excision of the tumor. Georg Thieme Verlag KG Stuttgart · New York.

McCune-Albright syndrome and the extraskeletal manifestations of fibrous dysplasia

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Collins Michael T

2012-05-01

Full Text Available Abstract Fibrous dysplasia (FD is sometimes accompanied by extraskeletal manifestations that can include any combination of café-au-lait macules, hyperfunctioning endocrinopathies, such as gonadotropin-independent precocious puberty, hyperthyroidism, growth hormone excess, FGF23-mediated renal phosphate wasting, and/or Cushing syndrome, as well as other less common features. The combination of any of these findings, with or without FD, is known as McCune-Albright syndrome (MAS. The broad spectrum of involved tissues and the unpredictable combination of findings owe to the fact that molecular defect is due to dominant activating mutations in the widely expressed signaling protein, Gsα, and the fact these mutations arises sporadically, often times early in development, prior to gastrulation, and can distribute across many or few tissues. The complexity can be mastered by a systematic screening of potentially involved tissues and cognizance that the pattern of involved tissues is established, to some degree, in utero. Thorough testing allows the clinician to establish, often times at presentation, the full extent of the disease, and importantly as well what tissues are unaffected. Treatment and follow-up can then be focused on affected systems and a meaningful prognosis can be offered to the patient and family. The authors outline screening and treatment strategies that allow for effective management of the extraskeletal manifestations of FD.

Polycystic ovary syndrome and metformin in pregnancy

DEFF Research Database (Denmark)

Lilja, Anna E; Mathiesen, Elisabeth R

2006-01-01

UNLABELLED: The diagnostic criteria of polycystic ovary syndrome incorporate hyperandrogenism, polycystic ovaries, anovulation and irregular menstrual bleeding and the syndrome is a recognized reason behind infertility. The biguanide metformin has encouraging effects on several metabolic aspects...... of the syndrome, including insulin sensitivity, plasma glucose concentration and lipid profile. Moreover, metformin improves the ovarian function in women diagnosed with polycystic ovary syndrome. Hence, metformin is considered an agent for ovulation induction among these patients. However, even higher ovulation...

Treacher Collins Syndrome; Anesthetic considerations and Molecular Findings

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Shahram Sayyadi

2018-01-01

Full Text Available Treacher Collins Syndrome (TCS is a rare disease with mandibulofacial dysostosis. The deformities accompanied by this syndrome could cause especial challenges for anesthesiologist. On the other hand Treacher protein is well recognized in the pathogenesis of this syndrome. In this report we want to present a successful management of a patient with Treacher Collins syndrome and also describe new advances in the molecular aspect of this disease.

Rett Syndrome.

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Culbert, Linda A.

This pamphlet reviews the historical process involved in initially recognizing Rett Syndrome as a specific disorder in girls. Its etiology is unknown, but studies have considered factors as hyperammonemia, a two-step mutation, a fragile X chromosome, metabolic disorder, environmental causation, dopamine deficiency, and an inactive X chromosome.…

Selected highlights of the VIII International Symposium of Clinicians for Endocrinopathies in Thalassemia and Adolescent Medicine (ICET-A) on Growth, Puberty and Endocrine Complications in Thalassaemia. Auditorium of the Sultan Qaboos University (SQU) Muscat (Sultanate of Oman), 20th of December 2014.

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De Sanctis, Vincenzo; Soliman, Ashraf T; Wali, Yasser; Elsedfy, Heba; Daar, Shahina; Al-Yaarubi, Saif A H; Mevada, Surekha Tony; Tony, Surekha; Elshinawy, Mohamed; Fawzy, Hanan; Al-Subhi, Taimoora; Al-Rawas, Abulhakim; Al-Muslehi, Muhanna; El Kholy, Mohamed

2015-03-01

The VIII ICET-A International Symposium was held in Muscat (Sultanate of Oman) on the 20th of December, 2014. The symposium included four sessions on a wide range of topics covering growth disorders and endocrine complications in thalassaemia. Despite the fact that endocrine complications are very common in multi-transfused thalassaemia patients a recent survey conducted by the International Network of Clinicians for Endocrinopathies in Thalassemia and Adolescent Medicine (ICET-A) in 2014 in Acitrezza (Catania, Italy) showed that the major difficulties reported by hematologists or pediatricians experienced in thalassaemias or thalassaemia syndromes in following endocrine complications included: Lack of familiarity with medical treatment of endocrine complications, interpretation of endocrine tests, lack of collaboration and on-time consultation between thalassaemic centres supervised by haematologists and endocrinologists. Endocrine monitoring of growth, pubertal development, reproductive ability and endocrine function in general are essential to achieve a good quality of life as well as controlling the pain which results from the defects of bone structure, all of which increase with the age of patients. Such comprehensive care is best provided by coordinated, multidisciplinary teams working in expert centres. The multidisciplinary team must include an endocrinologist, preferably someone experienced in the management of hormonal deficiencies caused early in life by transfusion-induced iron overload.

Anti-mullerian hormon level and polycystic ovarian syndrome diagnosis

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Shahrzad Zadehmodarres

2015-03-01

Full Text Available Background: Polycystic ovarian syndrome (PCOS is a common endocrinopathy that accompanied with long term complications. The early diagnosis of this syndrome can prevent it. Objective: The aim was to determine the role of anti-mullerian hormon (AMH in PCOS diagnosis and to find cut off level of it. Materials and Methods: In this cross sectional study, 117 women between 20-40 years old were participated in two groups: 60 PCOS women (based on Rotterdam criteria consensus as the case group and 57 normal ovulatory women as the control group. In day 2-4 of cycle, transvaginal sonography was performed and serum hormonal level of AMH, luteinizing hormone (LH, follicle stimulating hormone (FSH, estradiol (E2, testosterone, fasting blood sugar (FBS, thyroid stimulating hormone (TSH, and prolactin (PRL were measured in all of participants. For all of them score of hirsutism (base on Freeman-Galloway scoring was determined. Results: There were statistically significant in irregular pattern of menstruation, AMH and FSH level, and presence of hirsutism between two groups. But regarding mean of age, body mass index, plasma level of PRL, TSH, LH, Testosterone, FBS, and E2 differences were not significant. Construction by ROC curve present 3.15 ng/ml as AMH cut off with 70.37% sensitivity and 77.36% specificity in order to PCOS diagnosis. Conclusion: AMH with cut off level of 3.15 ng/ml with sensitivity 70.37% and specificity 77.36% could use for early diagnosis of PCOS patients.

Type 1 diabetes and polyglandular autoimmune syndrome: A review

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Hansen, Martin P; Matheis, Nina; Kahaly, George J

2015-01-01

Type 1 diabetes (T1D) is an autoimmune disorder caused by inflammatory destruction of the pancreatic tissue. The etiopathogenesis and characteristics of the pathologic process of pancreatic destruction are well described. In addition, the putative susceptibility genes for T1D as a monoglandular disease and the relation to polyglandular autoimmune syndrome (PAS) have also been well explored. The incidence of T1D has steadily increased in most parts of the world, especially in industrialized nations. T1D is frequently associated with autoimmune endocrine and non-endocrine diseases and patients with T1D are at a higher risk for developing several glandular autoimmune diseases. Familial clustering is observed, which suggests that there is a genetic predisposition. Various hypotheses pertaining to viral- and bacterial-induced pancreatic autoimmunity have been proposed, however a definitive delineation of the autoimmune pathomechanism is still lacking. In patients with PAS, pancreatic and endocrine autoantigens either colocalize on one antigen-presenting cell or are expressed on two/various target cells sharing a common amino acid, which facilitates binding to and activation of T cells. The most prevalent PAS phenotype is the adult type 3 variant or PAS type III, which encompasses T1D and autoimmune thyroid disease. This review discusses the findings of recent studies showing noticeable differences in the genetic background and clinical phenotype of T1D either as an isolated autoimmune endocrinopathy or within the scope of polyglandular autoimmune syndrome. PMID:25685279

Calcineurin-inhibitor pain syndrome.

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Prommer, Eric

2012-07-01

There has been increased recognition of calcineurin, a phosphoprotein serine/threonine phosphatase enzyme, in the regulation of many physiologic systems. Calcineurin mediates activation of lymphocytes, which play a role in immune response. Widely distributed in the central nervous system, calcinuerin also plays an important role in sensory neural function, via its role in the regulation of newly discovered 2-pore potassium channels, which greatly influence neuronal resting membrane potentials. Calcinuerin inhibition is the mechanism of action of immunomodulatory drugs such as cyclosporine and tacrolimus, which are widely used in transplantation medicine to prevent rejection. While important for immunosuppression, the use of calcineurin inhibitors has been associated with the development of a new pain syndrome called the calcineurin pain syndrome, which appears to be an untoward complication of the interruption of the physiologic function of calcineurin. This is a narrative review focusing on the epidemiology, pathophysiology, characterization of a newly recognized pain syndrome associated with the use of calcineurin inhibitors. The use of immunosuppressants however is associated with several well-known toxicities to which the calcineurin pain syndrome can be added. The development of this syndrome most likely involves altered nociceptive processing due to the effect of calcineurin inhibition on neuronal firing, as well as effects of calcineurin on vascular tone. The most striking aspect of the treatment of this syndrome is the response to calcium channel blockers, which suggest that the effects of calcineurin inhibition on vascular tone play an important role in the development of the calcineurin pain syndrome. The calcineurin syndrome is a newly recognized complication associated with the use of calcineurin inhibitors. There is no standard therapy at this time but anecdotal reports suggest the effectiveness of calcium channel blockers.

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

Partial subclavian steal syndrome in a congenitally anomalous subclavian artery

International Nuclear Information System (INIS)

Krnic, A.; Sucic, Z.; Vucic, N.; Krolo, I.

2006-01-01

Background. A subclavian steal syndrome results from the abnormal flow of blood due to the occlusion in the subclavian artery proximal to the origin of the vertebral artery. A case of a male patient with a partial subclavian steal syndrome is presented. Case report. The syndrome was caused by a stenotic lesion of an aberrant right subclavian artery (the so called lusorian artery). The partial subclavian steal was recognized using the duplex ultrasound which showed the to and fro pattern in the right vertebral artery. Angiography of the aortic arch revealed the arterial anomaly. In our case, duplex ultrasound was a crucial method in diagnosing the partial subclavian steal syndrome. However, in order to show the arterial anomaly, the final evaluation had to be performed using arteriography. Conclusions. The early recognized partial subclavian steal syndrome provides good understanding of patient's symptoms, successful follow up, and a variety of treatment options. (author)

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.

Waardenburg syndrome: A report of three cases

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Ghosh Sudip

2010-01-01

Full Text Available Waardenburg syndrome (WS is a rare autosomally inherited and genetically heterogeneous disorder of neural crest cell development with distinct cutaneous manifestations. Based on the clinical presentations, four subtypes of the disease are recognized. A careful clinical evaluation is required to differentiate various types of WS and other associated auditory-pigmentary syndromes. We describe a case series of WS to highlight the wide spectrum of manifestations of the syndrome including a rare association.

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

Science.gov (United States)

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

2014-11-01

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

Fever-Induced Brugada Syndrome

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Sandhya Manohar MD

2015-03-01

Full Text Available Brugada syndrome is increasingly recognized as a cause of sudden cardiac death. Many of these patients do not get diagnosed due its dynamic and often hidden nature. We have come a long way in understanding the disease process, and its electrophysiology appears to be intimately linked with sodium channel mutations or disorders. The cardiac rhythm in these patients can deteriorate into fatal ventricular arrhythmias. This makes it important for the clinician to be aware of the conditions in which arrhythmogenicity of Brugada syndrome is revealed or even potentiated. We present such an instance where our patient’s Brugada syndrome was unmasked by fever.

Alport's syndrome with focal segmental glomerulosclerosis lesion - Pattern to recognize.

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Alsahli, Afnan A; Alshahwan, Sara I; Alotaibi, Amal O; Alsaad, Khaled O; Aloudah, Nourah; Farooqui, Mahfooz; Al Sayyari, Abdullah A

2018-01-01

The association between Alport's syndrome (AS) and focal segmental glomerulosclerosis (FSGS) in the same patient is complex and rarely reported. We report a case of a 42-year-old male presenting with proteinuria, microscopic hematuria, elevated serum creatinine and hypertension with unremarkable physical examination apart from obesity. The renal biopsy showed well-established FSGS pattern of injury with mild interstitial fibrosis and tubular atrophy, while the electron microscopic examination demonstrated glomerular basement membranes (GBM) changes compatible with AS. AS can be complicated by segmental glomerular scarring, which can mimic primary FSGS, while familial FSGS can result from mutations in collagen IV network of the GBM. This overlap can complicate histopathological interpretation of renal biopsy, which should be accompanied by mutational analysis for accurate diagnosis and proper therapeutic intervention.

Cutis laxa and fatal pulmonary hypertension: a newly recognized syndrome?

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Brunetti-Pierri, Nicola; Piccolo, Pasquale; Morava, Eva; Wevers, Ron A.; McGuirk, Megan; Johnson, Yvette R.; Urban, Zsolt; Dishop, Megan K.; Potocki, Lorraine

2015-01-01

Cutis laxa is a connective tissue disorder with distinctive lax, redundant, and inelastic skin. It is a genetically heterogenous disorder with autosomal dominant and recessive patterns of inheritance. We report a patient with cutis laxa supported by clinical, microscopic, and ultrastructural findings. Molecular analysis of fibulin-4 and -5, of the α2 subunit of the V-type H+ ATPase, and of the component of the oligomeric Golgi complex 7 (COG7) genes excluded the type I and type II autosomal recessive forms of cutis laxa, and congenital disorders of glycosylation associated with cutis laxa. Remarkably, our patient also presented severe and lethal pulmonary hypertension as a newborn. This case with cutis laxa, severe pulmonary hypertension, and no detectable mutations in fibulin-4 and -5 genes may represent a previously unrecognized syndrome. PMID:21285876

Intraabdominal Compartment Syndrome Complicating Transurethral Resection of Bladder Tumor

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Sachin Narain

2012-01-01

Full Text Available Abdominal compartment syndrome can result from many different causes. We present a case where this dangerous syndrome occurred in the operating room during a transurethral resection of a bladder tumor. It was initially recognized by an elevation in the peak inspiratory pressure. We report the typical physiologic changes that occur with this syndrome and its treatment options.

[Constitutional mismatch repair deficiency syndrome].

Science.gov (United States)

Jongmans, Marjolijn C; Gidding, Corrie E; Loeffen, Jan; Wesseling, Pieter; Mensenkamp, Arjen; Hoogerbrugge, Nicoline

2015-01-01

Constitutional mismatch repair deficiency (CMMR-D) syndrome is characterised by a significantly increased risk for developing cancer in childhood. It arises when both parents have a mutation in the same mismatch repair gene and pass it on to their child. An 8-year-old girl was diagnosed with CMMR-D syndrome after she developed a brain tumour at the age of 4 and a T-cell non-Hodgkin lymphoma at the age of 6. She had multiple hyperpigmented skin lesions and died of myelodysplastic syndrome at the age of 11. In children with cancer CMMR-D syndrome can be recognized particularly if there are multiple primary malignancies and skin hyperpigmentations and hypopigmentations. The parents of these children are at high risk for colorectal and endometrial cancer (Lynch syndrome), amongst others.

Neck and arm pain syndromes

DEFF Research Database (Denmark)

de las Peñas, César Fernández; Cleland, Joshua; Huijbregts, Peter

approaches.It uniquely addresses the expanding role of the various health care professions which require increased knowledge and skills in screening for contra-indications and recognizing the need for medical-surgical referral. Neck and Arm Pain Syndromes also stresses the integration of experiential......The first of its kind, Neck and Arm Pain Syndromes is a comprehensive evidence- and clinical-based book, covering research-based diagnosis, prognosis and management of neuromusculoskeletal pathologies and dysfunctions of the upper quadrant, including joint, muscle, myofascial and neural tissue...... of the most commonly seen pain syndromes in clinical practice over 800 illustrations demonstrating examination procedures and techniques....

Visceroptosis and the Ehlers-Danlos Syndrome.

Science.gov (United States)

Kucera, Stephen; Sullivan, Stephen N

2017-11-08

The case of a patient with visceroptosis and Ehlers-Danlos syndrome hypermobility type (RDS-HT) is reported here. The literature on this unusual but probably under-recognized complication is reviewed.

Forearm Compartment Syndrome: Evaluation and Management.

Science.gov (United States)

Kistler, Justin M; Ilyas, Asif M; Thoder, Joseph J

2018-02-01

Compartment syndrome of the forearm is uncommon but can have devastating consequences. Compartment syndrome is a result of osseofascial swelling leading to decreased tissue perfusion and tissue necrosis. There are numerous causes of forearm compartment syndrome and high clinical suspicion must be maintained to avoid permanent disability. The most widely recognized symptoms include pain out of proportion and pain with passive stretch of the wrist and digits. Early diagnosis and decompressive fasciotomy are essential in the treatment of forearm compartment syndrome. Closure of fasciotomy wounds can often be accomplished by primary closure but many patients require additional forms of soft tissue coverage procedures. Copyright © 2017 Elsevier Inc. All rights reserved.

Polycystic ovary syndrome and environmental toxins.

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Rutkowska, Aleksandra Zofia; Diamanti-Kandarakis, Evanthia

2016-09-15

Polycystic ovary syndrome (PCOS) is the most common, heterogeneous, and multifactorial endocrine disorder in premenopausal women. The pathophysiology of this endocrinopathy is still unclear; however, the heterogeneity of its features within ethnic races, geographic location, and families suggests that environment and lifestyle are of prime importance. This work is mainly focused on the possible role of the most common and studied environmental toxins for this syndrome in the pathogenesis of PCOS. Plasticizers, such as bisphenol A (BPA) or phthalates, which belong to the categories of endocrine disrupting chemicals (EDCs) and advanced glycation end products (AGEs), affect humans' health in everyday, industrialized life; therefore special attention should be paid to such exposure. Timing of exposure to EDCs is crucial for the intensity of adverse health effects. It is now evident that fetuses, infants, and/or young children are the most susceptible groups, especially in the early development periods. Prenatal exposure to EDCs that mimic endogenous hormones may contribute to the altered fetal programming and in consequence lead to PCOS and other adverse health effects, potentially transgenerationally. Acute or prolonged exposure to EDCs and AGEs through different life cycle stages may result in destabilization of the hormonal homeostasis and lead to disruption of reproductive functions. They may also interfere with metabolic alterations such as obesity, insulin resistance, and compensatory hyperinsulinemia that can exacerbate the PCOS phenotype and contribute to PCOS consequences such as type 2 diabetes and cardiovascular disease. Since wide exposure to environmental toxins and their role in the pathophysiology of PCOS are supported by extensive data derived from diverse scientific models, protective strategies and strong recommendations should be considered to reduce human exposure to protect present and future generations from their adverse health effects. Copyright

Genetic Rodent Models of Obesity-Associated Ovarian Dysfunction and Subfertility: Insights into Polycystic Ovary Syndrome

Science.gov (United States)

Huang-Doran, Isabel; Franks, Stephen

2016-01-01

Polycystic ovary syndrome (PCOS) is the most common endocrinopathy affecting women and a leading cause of female infertility worldwide. Defined clinically by the presence of hyperandrogenemia and oligomenorrhoea, PCOS represents a state of hormonal dysregulation, disrupted ovarian follicle dynamics, and subsequent oligo- or anovulation. The syndrome’s prevalence is attributed, at least partly, to a well-established association with obesity and insulin resistance (IR). Indeed, the presence of severe PCOS in human genetic obesity and IR syndromes supports a causal role for IR in the pathogenesis of PCOS. However, the molecular mechanisms underlying this causality, as well as the important role of hyperandrogenemia, remain poorly elucidated. As such, treatment of PCOS is necessarily empirical, focusing on symptom alleviation. The generation of knockout and transgenic rodent models of obesity and IR offers a promising platform in which to address mechanistic questions about reproductive dysfunction in the context of metabolic disease. Similarly, the impact of primary perturbations in rodent gonadotrophin or androgen signaling has been interrogated. However, the insights gained from such models have been limited by the relatively poor fidelity of rodent models to human PCOS. In this mini review, we evaluate the ovarian phenotypes associated with rodent models of obesity and IR, including the extent of endocrine disturbance, ovarian dysmorphology, and subfertility. We compare them to both human PCOS and other animal models of the syndrome (genetic and hormonal), explore reasons for their discordance, and consider the new opportunities that are emerging to better understand and treat this important condition. PMID:27375552

Lemierre's syndrome

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Johannesen, Katrine M; Bodtger, Uffe

2016-01-01

This is a systematic review of cases with Lemierre's syndrome (LS) in the past 5 years. LS is characterized by sepsis often evolving after a sore throat or tonsillitis and then complicated by various septic emboli and thrombosis of the internal jugular vein. Symptoms include sepsis, pain, and/or ...... LS in this day and age appears to be low, however the syndrome is difficult to recognize, and still requires the full attention of the clinician.......This is a systematic review of cases with Lemierre's syndrome (LS) in the past 5 years. LS is characterized by sepsis often evolving after a sore throat or tonsillitis and then complicated by various septic emboli and thrombosis of the internal jugular vein. Symptoms include sepsis, pain, and....../or swelling in the throat or neck, as well as respiratory symptoms. Laboratory findings show elevated infectious parameters and radiological findings show thrombosis of the internal jugular vein and emboli in the lungs or other organs. The syndrome is often associated with an infection with Fusobacterium...

Anton's syndrome and eugenics

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Kondziella, Daniel; Frahm-Falkenberg, Siska

2011-01-01

to the clinical neurosciences, including pioneering work in neurosurgery, neuropsychology, and child psychiatry. However, it has not been recognized in the English literature that Anton was also a dedicated advocate of eugenics and racial hygiene. This paper provides a case of Anton's syndrome and puts the works...

Zollinger-Ellison syndrome: classical considerations and current controversies.

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Epelboym, Irene; Mazeh, Haggi

2014-01-01

Zollinger-Ellison syndrome (ZES) is an endocrinopathy characterized by gastrin-secreting tumors, responsible for causing the formation of multiple, refractory, and recurrent peptic ulcers in the distal duodenum and proximal jejunum. Two main variants have been described, sporadic and those found in association with parathyroid and pituitary tumors, a genetic disorder known as multiple endocrine neoplasia-1 (MEN-1). Biochemical serum evaluation for elevated gastrin, followed by radiological or nuclear localization of the primary lesion, is mandated for establishing diagnosis. The mainstays of treatment include management of hypersecretory state with medical suppression of gastric acid production and surgical resection of primary tumor for the prevention of malignant transformation and metastatic complications. Medical therapy with proton pump inhibitors has virtually eliminated the need for acid-reducing surgical procedures. Surgical approach to sporadic and MEN-1-associated ZES varies based on our understanding of the natural history of the condition and the probability of cure; however, resection to a negative microscopic margin is indicated in both cases. Postoperative surveillance involves measurement of gastrin level, followed by imaging if elevation is detected. Re-excision of recurrent or resection of metastatic disease is a subject of controversy; however, at the present time aggressive cytoreductive approach is favored.

Bone lesions in Chinese POEMS syndrome patients: imaging characteristics and clinical implications.

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Wang, Fengdan; Huang, Xufei; Zhang, Yan; Li, Jian; Zhou, Daobin; Jin, Zhengyu

2016-01-01

Objective. Bone lesion is crucial for diagnosing and management of polyneuropathy, organomegaly, endocrinopathy, monoclonal protein, and skin change (POEMS) syndrome, a rare plasma cell disorder. This study is to compare the effectiveness of X-ray skeletal survey (SS) and computed tomography (CT) for detecting bone lesions in Chinese POEMS syndrome patients, and to investigate the relationship between bone lesion features and serum markers. Methods. SS and chest/abdomen/pelvic CT images of 38 Chinese patients (26 males, 12 females, aged 21-70 years) with POEMS syndrome recruited at our medical center between January 2013 and January 2015 were retrospectively analyzed. Bone lesions identified by CT were further categorized according to the size (10 mm) and appearance (osteosclerotic, lytic, mixed). The percentage of plasma cells in bone marrow smears, type of immunoglobulin, platelet (Plt), and levels of serum bone metabolic markers and inflammatory factors including alkaline phosphatase (ALP), calcium, phosphate, parathyroid hormone (PTH), beta-isomerized C-telopeptide (β-CTx), vascular endothelial growth factor (VEGF), and interleukin (IL)-6 levels were also recorded. Results. Of the 38 POEMS syndrome patients, the immunoglobulin heavy chain isotypes were IgA in 25 patients (65.8%; 25/38) and IgG in 13 patients (34.2%; 13/38), and the light chain isotypes were λ in 35 patients (92.1%; 35/38) and κ in 3 patients (7.9%; 3/38). There were 23 patients with thrombocytosis. More patients with bone lesions were detected by CT than by SS (97.4% vs. 86.8%). The most commonly affected location was the pelvis (89.5%), followed by the spine, clavicle/scapula/sternum/ribs, skull, and long bones. Of the 38 POEMS syndrome patients, 35 (94.6%) had osteosclerotic and 32 (86.5%) had mixed lesions. Osteosclerotic lesions were typically scattered, variable in size, and plaque-like, whereas mixed lesions were pouch-shaped or soup bubble-like with a clear sclerotic margin and were

Endocrine and metabolic disorders associated with human immune deficiency virus infection.

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Unachukwu, C N; Uchenna, D I; Young, E E

2009-01-01

Many reports have described endocrine and metabolic disorders in the human immunodeficiency virus (HIV) infection. This article reviewed various reports in the literature in order to increase the awareness and thus the need for early intervention when necessary. Data were obtained from MEDLINE, Google search and otherjournals on 'HIV, Endocrinopathies/Metabolic Disorders' from 1985 till 2007. Studies related to HIV associated endocrinopathies and metabolic disorders in the last two decades were reviewed. Information on epidemiology, pathogenesis, diagnosis and treatment of the target organ endocrinopathies and metabolic disorders in HIV/AIDS were extracted from relevant literature. Endocrine and metabolic disturbances occur in the course of HIV infection. Pathogenesis includes direct infection of endocrine glands by HIV or opportunistic organisms, infiltration by neoplasms and side effects of drugs. Adrenal insufficiency is the commonest HIV endocrinopathy with cytomegalovirus adrenalitis occurring in 40-88% of cases. Thyroid dysfunction may occur as euthyroid sick syndrome or sub-clinical hypothyroidism. Hypogonadotrophic dysfunction accounts for 75% of HIV-associated hypogonadism, with prolonged amenorrhoea being three times more likely in the women. Pancreatic dysfunction may result in hypoglycaemia or diabetes mellitus (DM). Highly active antiretroviral therapy (HAART) especially protease inhibitors has been noted to result in insulin resistance and lipodystrophy. Virtually every endocrine organ is involved in the course of HIV infection. Detailed endocrinological and metabolic evaluation and appropriate treatment is necessary in the optimal management of patients with HIV infection in our environment.

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

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

2018-03-05

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

Members of the emergency medical team may have difficulty diagnosing rapid atrial fibrillation in Wolff-Parkinson-White syndrome.

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Koźluk, Edward; Timler, Dariusz; Zyśko, Dorota; Piątkowska, Agnieszka; Grzebieniak, Tomasz; Gajek, Jacek; Gałązkowski, Robert; Fedorowski, Artur

2015-01-01

Atrial fibrillation (AF) in patients with Wolff-Parkinson-White (WPW) syndrome is potentially life-threatening as it may deteriorate into ventricular fibrillation. The aim of this study was to assess whether the emergency medical team members are able to diagnose AF with a rapid ventricular response due to the presence of atrioventricular bypass tract in WPW syndrome. The study group consisted of 316 participants attending a national congress of emergency medicine. A total of 196 questionnaires regarding recognition and management of cardiac arrhythmias were distributed. The assessed part presented a clinical scenario with a young hemodynamically stable man who had a 12-lead electrocardiogram performed in the past with signs of pre-excitation, and who presented to the emergency team with an irregular broad QRS-complex tachycardia. A total of 71 questionnaires were filled in. Only one responder recognized AF due to WPW syndrome, while 5 other responders recognized WPW syndrome and paroxysmal supraventricular tachycardia or broad QRS-complex tachycardia. About 20% of participants did not select any diagnosis, pointing out a method of treatment only. The most common diagnosis found in the survey was ventricular tachycardia/broad QRS-complex tachycardia marked by approximately a half of the participants. Nearly 18% of participants recognized WPW syndrome, whereas AF was recognized by less than 10% of participants. Members of emergency medical teams have limited skills for recognizing WPW syndrome with rapid AF, and ventricular tachycardia is the most frequent incorrect diagnosis.

High-fat diet induces significant metabolic disorders in a mouse model of polycystic ovary syndrome.

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Lai, Hao; Jia, Xiao; Yu, Qiuxiao; Zhang, Chenglu; Qiao, Jie; Guan, Youfei; Kang, Jihong

2014-11-01

Polycystic ovary syndrome (PCOS) is the most common female endocrinopathy associated with both reproductive and metabolic disorders. Dehydroepiandrosterone (DHEA) is currently used to induce a PCOS mouse model. High-fat diet (HFD) has been shown to cause obesity and infertility in female mice. The possible effect of an HFD on the phenotype of DHEA-induced PCOS mice is unknown. The aim of the present study was to investigate both reproductive and metabolic features of DHEA-induced PCOS mice fed a normal chow or a 60% HFD. Prepubertal C57BL/6 mice (age 25 days) on the normal chow or an HFD were injected (s.c.) daily with the vehicle sesame oil or DHEA for 20 consecutive days. At the end of the experiment, both reproductive and metabolic characteristics were assessed. Our data show that an HFD did not affect the reproductive phenotype of DHEA-treated mice. The treatment of HFD, however, caused significant metabolic alterations in DHEA-treated mice, including obesity, glucose intolerance, dyslipidemia, and pronounced liver steatosis. These findings suggest that HFD induces distinct metabolic features in DHEA-induced PCOS mice. The combined DHEA and HFD treatment may thus serve as a means of studying the mechanisms involved in metabolic derangements of this syndrome, particularly in the high prevalence of hepatic steatosis in women with PCOS. © 2014 by the Society for the Study of Reproduction, Inc.

Are women with severely symptomatic brugada syndrome different from men?

NARCIS (Netherlands)

Sacher, Frédéric; Meregalli, Paola; Veltmann, Christian; Field, Michael E.; Solnon, Aude; Bru, Paul; Abbey, Sélim; Jaïs, Pierre; Tan, Hanno L.; Wolpert, Christian; Lande, Gilles; Bertault, Valérie; Derval, Nicolas; Babuty, Dominique; Lacroix, Dominique; Boveda, Serge; Maury, Philippe; Hocini, Mélèze; Clémenty, Jacques; Mabo, Philippe; Lemarec, Hervé; Mansourati, Jacques; Borggrefe, Martin; Wilde, Arthur; Haïssaguerre, Michel; Probst, Vincent

2008-01-01

Women with Brugada Syndrome. INTRODUCTION: Spontaneous type-1 ECG has been recognized as a risk factor for sudden cardiac death (SCD) in Brugada syndrome (BrS), but studied populations predominantly consisted of men. We sought to investigate whether a spontaneous type-1 ECG pattern was also

An Occult Malignancy Behind a Demyelinating Disease

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Saberio Lo Presti MD

2016-10-01

Full Text Available We report a case of a 38-year-old man presenting with bilateral lower extremity weakness and paresthesias that progressed during a 4-month period to severe polyneuropathy forcing the patient to be bed bound. Throughout his multiple hospitalizations, he was treated erroneously for chronic inflammatory demyelinating polyneuropathy, without significant improvement in his symptoms. In addition, he developed hepatosplenomegaly (organomegaly; endocrinopathies such as diabetes mellitus, central hypogonadism, and hypothyroidism; monoclonal spike evidenced in the serum electrophoresis; and hyperpigmentation of skin, altogether consistent with POEMS syndrome. During his last hospitalization he developed excruciating pain on his left hip, and imaging revealed the presence of a 9 × 6 cm osteolytic mass with sclerotic rim in the left acetabulum. Biopsy of the mass confirmed an isolated IgG lambda plasmacytoma. The patient received radiation to his left acetabular lesion followed by left hip replacement. Subsequently, the patient underwent autologous bone marrow transplant. Eighteen months after his initial presentation, he had satisfactory clinical response and is functional without significant limitations. POEMS syndrome is a rare paraneoplastic syndrome secondary to an underlying plasma cell disorder, which can oftentimes be overlooked and misdiagnosed. The median age of presentation is 51 years, and only 31% of the cases occur in fairly young patients under the age of 45 as evidenced in this case. As clinicians, we should be aware of the constellation of features associated with POEMS syndrome and be able to recognize them promptly.

Symptomatic Spinal Epidural Lipomatosis After a Single Local Epidural Steroid Injection

International Nuclear Information System (INIS)

Tok, Chung Hong; Kaur, Shaleen; Gangi, Afshin

2011-01-01

Spinal epidural lipomatosis is a rare disorder that can manifest with progressive neurological deficits. It is characterized by abnormal accumulation of unencapsulated epidural fat commonly associated with the administration of exogenous steroids associated with a variety of systemic diseases, endocrinopathies, and Cushing syndrome (Fogel et al. Spine J 5:202–211, 2005). Occasionally, spinal epidural lipomatosis may occur in patients not exposed to steroids or in patients with endocrinopathies, primarily in obese individuals (Fogel et al. Spine J 5:202–211, 2005). However, spinal lumbar epidural lipomatosis resulting from local steroid injection has rarely been reported. We report the case of a 45-year-old diabetic man with claudication that was probably due to symptomatic lumbar spinal lipomatosis resulting from a single local epidural steroid injection.

Management of moyamoya syndrome in patients with Noonan syndrome.

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Gupta, Mihir; Choudhri, Omar A; Feroze, Abdullah H; Do, Huy M; Grant, Gerald A; Steinberg, Gary K

2016-06-01

A few isolated reports have described an association between Noonan syndrome and cerebrovascular abnormalities, including moyamoya syndrome. These reports have been limited to pediatric patients presenting with recurrent transient ischemic attacks (TIA) or headaches. Management has primarily been pharmacologic, with only one prior report of surgical revascularization to our knowledge. We report four cases of Noonan syndrome patients presenting with headaches and/or sensorimotor strokes in childhood that caused unilateral sensorimotor impairment. Cerebral angiography and MRI revealed bilateral moyamoya syndrome. All patients underwent successful bilateral extracranial-to-intracranial revascularization. The first patient was a 10-year-old girl who presented following a hemorrhagic stroke and recovered well after indirect bypass. The second patient was an adult with a history of childhood stroke whose symptoms progressed in adulthood. She underwent a direct bypass and improved, but continued to experience TIA at her 4 year follow-up. The third patient was a 7-year-old girl with headaches and a new onset TIA who failed pharmacological therapy and subsequently underwent bilateral indirect bypass. The fourth patient was a 24-year-old woman with worsening headaches and an occluded left middle cerebral artery from unilateral moyamoya syndrome. A left sided direct bypass was completed given delayed MRI perfusion with poor augmentation. To our knowledge these are the first reported surgical cases of combined Noonan and moyamoya syndrome. These cases highlight the need to recognize moyamoya syndrome in patients with Noonan syndrome. Early surgical revascularization should be pursued in order to prevent symptom progression. Copyright © 2015 Elsevier Ltd. All rights reserved.

Refeeding syndrome: a forgotten and potentially lethal entity.

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Aissaoui, Y; Hammi, S; Tagajdid, R; Chkoura, K; Boughalem, M

2016-05-01

Refeeding syndrome (RS) is defined as the fluid, electrolyte, metabolic, and clinical disturbances that occur after nutrition of patients who have been undernourished or fasting for a prolonged period. This syndrome has been recognized for several decades but is most often overlooked and underdiagnosed by health professionals. The authors report a RS in a patient subjected to prolonged fasting after being kidnapped by a criminal gang. Refeeding resulted in severe hypophosphatemia, neurological impairments, and hematologic disorders. The patient died due to septic shock with multiple organ failure secondary to aspiration pneumonia. In this case, the failure to recognize RS was decisive in the fatal outcome. Professionals must be aware of this disease to prevent and treat it properly.

N Acetyl Cysteine, A novel Remedy for Poly Cystic Ovarian Syndrome

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Nasibeh Amirzargar

2009-01-01

Full Text Available Background: Poly cystic ovarian syndrome (PCOS is the most prevalent endocrinopathy among womenand the most common underlying diagnosis for anovulatory infertility. The role of insulin-resistance(IR and hyperinsulinemia in pathophysiology and clinical manifestations of the syndrome depicts theimportance of evaluation of the efficacy of insulin reducing medications. N acetyl cysteine (NAC inhibitsoxidative stress and prevents hyperglycemia induced insulin resistance. This study aims at evaluating theeffects of NAC on manifestations of the disease as well as improvement of fertility status.Materials and Methods: Through a prospective double-blind clinical trial, 46 patients were randomlydivided into one intervention and one control group. The two groups were treated for six weeks aftersimilarity was allocated. All clinical and biochemical indicators were recorded in the early follicularphase both before and after treatment.Results: From each group, 18 patients were ultimately evaluated. In the first group, ovulation rateincreased as compared to the control group. A significant decrease in weight, body mass index (BMI,and waist/hip ratio was also observed. Fast blood sugar (FBS, serum insulin, total cholesterol, lowdensity lipoprotein (LDL levels, and HOMA-IR index also dropped while high density lipoproteinHDL levels elevated significantly. No significant change was reported in luteinizing hormone (LH,FSH, PRL, LH/FSH levels and glucose/insulin ratio. The control group remained unchanged.Conclusion: N- Acetyl Cysteine improves lipid profile, hormonal levels, ovulation status, and longtermhealth of women with PCOS. Considering its limited adverse effects, it can be regarded as asubstitute for insulin reducing medications in treatment of these patients.

Syndromes Associated with Sexually Transmitted Infections

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Max Chernesky

2005-01-01

Full Text Available Excellent technologies have been developed to identify the specific microbial agents of chlamydia, gonorrhea, syphilis, herpes, chancroid, trichomoniasis, human papillomavirus and HIV infection. However, it is also crucial to recognize syndromes that may be caused by one or more sexually transmitted pathogens. When laboratory services are lacking or are inadequate to provide timely results to enable appropriate treatment, some patients must be managed and treated syndromically. Most Canadian laboratories should be able to provide diagnostic services to determine the etiology of syndromes such as cervicitis, urethritis, pelvic inflammatory disease, prostatitis, genital ulcers, sexually transmitted infection (STI-related enteric infections, epididymitis, hepatitis, ophthalmia neonatorum, vulvovaginitis and vaginosis.

Imaging spectrum of primary antiphospholipid antibody syndrome

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Yoon, Kwon Ha; Won, Jong Jin [Wonkwang University Hospital, Iksan (Korea, Republic of); Ha, Hyun Kwon; Kim, Jung Hoon; Kim, Jeong Gon; Ki, Won Woo; Kim, Pyo Nyun; Lee, Moon Gyu; Auh, Yong Ho [Asan Medical Center, Seoul (Korea, Republic of)

1998-04-01

Antiphospholipid antibody syndrome is recognized as one of the most important causes of hypercoagulability. It can be clinically diagnosed if patients have experienced unexplained recurrent venous or arterial thrombosis, recurrent fetal loss, or thrombocytopenia in the presence of circulating autoantibodies to phospholipids, such as anticardiolipin antibody or lupus anticoagulant. Approximately half of all patients with this syndrome do not have associated systemic disease, and their condition is described as primary antiphospholipid antibody syndrome (PAPS). In the remainder, the syndrome is accompanied by systemic lupus erythematosus or other connective tissue diseases, and is known as secondary antiphospholipid syndrome (1). The purpose of this paper is to illustrate the systemic manifestation of PAPS, focusing on the radiological findings of CT, MR and angiography in clinically proven patients. (author). 8 refs., 10 figs.

Imaging spectrum of primary antiphospholipid antibody syndrome

International Nuclear Information System (INIS)

Yoon, Kwon Ha; Won, Jong Jin; Ha, Hyun Kwon; Kim, Jung Hoon; Kim, Jeong Gon; Ki, Won Woo; Kim, Pyo Nyun; Lee, Moon Gyu; Auh, Yong Ho

1998-01-01

Antiphospholipid antibody syndrome is recognized as one of the most important causes of hypercoagulability. It can be clinically diagnosed if patients have experienced unexplained recurrent venous or arterial thrombosis, recurrent fetal loss, or thrombocytopenia in the presence of circulating autoantibodies to phospholipids, such as anticardiolipin antibody or lupus anticoagulant. Approximately half of all patients with this syndrome do not have associated systemic disease, and their condition is described as primary antiphospholipid antibody syndrome (PAPS). In the remainder, the syndrome is accompanied by systemic lupus erythematosus or other connective tissue diseases, and is known as secondary antiphospholipid syndrome (1). The purpose of this paper is to illustrate the systemic manifestation of PAPS, focusing on the radiological findings of CT, MR and angiography in clinically proven patients. (author). 8 refs., 10 figs

Milestones of Lynch syndrome: 1895-2015.

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Lynch, Henry T; Snyder, Carrie L; Shaw, Trudy G; Heinen, Christopher D; Hitchins, Megan P

2015-03-01

Lynch syndrome, which is now recognized as the most common hereditary colorectal cancer condition, is characterized by the predisposition to a spectrum of cancers, primarily colorectal cancer and endometrial cancer. We chronicle over a century of discoveries that revolutionized the diagnosis and clinical management of Lynch syndrome, beginning in 1895 with Warthin's observations of familial cancer clusters, through the clinical era led by Lynch and the genetic era heralded by the discovery of causative mutations in mismatch repair (MMR) genes, to ongoing challenges.

Metformin-clomiphene citrate vs. clomiphene citrate alone: Polycystic ovarian syndrome

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Aqueela Ayaz

2013-01-01

Full Text Available Background: Polycystic ovary syndrome (PCOS is the commonest endocrinopathy in women that is associated with reproductive and metabolic disorders. Objectives: We compared the ovulation and conception rates after the treatment with clomiphene citrate (CC alone and in combination with metformin in infertile patients presented with polycystic ovarian syndrome (PCOS. Materials and Methods: This randomized controlled trial of independent cases and controls was conducted at the Department of Obstetrics and Gynecology, Hera General Hospital, Makkah, Saudi Arabia from February 01 to December 31, 2008. The 42 subjects diagnosed as PCOS were divided into group A and B (21 subjects in each for management with CC + metformin and CC alone, respectively. Group A received 500 mg three times a day of metformin continuously from the first cycle for 6 months or till pregnancy was confirmed. In both groups CC was started at a dose of 50 mg from day-2 till day-6 of the menstrual cycle. The dose of CC was increased to 100 mg in second and 150 mg in third cycle, and then remained 150 mg for the remaining three cycles. With ovulation the dose of CC was unaltered in both groups. Data were analyzed using Statistical Package for the Social Sciences (SPSS version 16. Results: More than 50% females in both groups were had body mass index > 25. Group A achieved high rate of regular cycles, ovulation success, and conception than group B (71.4% vs. 38.1%; P = 0.03, (76.2% vs. 38.1%; P = 0.021, and (66.6% vs. 28.6%; P = 0.01, respectively. Conclusion: Management with metformin + CC increased the ovulation and conception rates.

Geriatric Syndromes in Hospitalized Older Adults Discharged to Skilled Nursing Facilities

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Bell, Susan P.; Vasilevskis, Eduard E.; Saraf, Avantika A.; Jacobsen, J. Mary Lou; Kripalani, Sunil; Mixon, Amanda S.; Schnelle, John F.; Simmons, Sandra F.

2016-01-01

Background Geriatric syndromes are common in older adults and associated with adverse outcomes. The prevalence, recognition, co-occurrence and recent onset of geriatric syndromes in patients transferred from hospital to skilled nursing facilities (SNFs) are largely unknown. Design Quality improvement project. Setting Acute care academic medical center and 23 regional partner SNFs. Participants 686 Medicare beneficiaries hospitalized between January 2013 and April 2014 and referred to SNFs. Measurements Nine geriatric syndromes were measured by project staff -- weight loss, decreased appetite, incontinence and pain (standardized interview), depression (Geriatric Depression Scale), delirium (Brief-Confusion Assessment Method), cognitive impairment (Brief Interview for Mental Status), falls and pressure ulcers (hospital medical record utilizing hospital-implemented screening tools). Estimated prevalence, new-onset prevalence and common coexisting clusters were determined. The extent that syndromes were commonly recognized by treating physicians and communicated to SNFs in hospital discharge documentation was evaluated. Results Geriatric syndromes were prevalent in more than 90% of hospitalized adults referred to SNFs; 55% met criteria for 3 or more co-existing syndromes. Overall the most prevalent syndromes were falls (39%), incontinence (39%), decreased appetite (37%) and weight loss (33%). Of individuals that met criteria for 3 or more syndromes, the most common triad clusters included nutritional syndromes (weight loss, loss of appetite), incontinence and depression. Treating hospital physicians commonly did not recognize and document geriatric syndromes in discharge summaries, missing 33–95% of syndromes present as assessed by research personnel. Conclusion Geriatric syndromes in hospitalized older adults transferred to SNF are prevalent and commonly co-exist with the most frequent clusters including nutritional syndromes, depression and incontinence. Despite

[Atypical manifestations in familial type 1 Waardenburg syndrome].

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Sans, B; Calvas, P; Bazex, J

1998-01-01

Waardenburg syndrome is an uncommon genetic disorder. Four clinical types are recognized. Three responsible genes have been identified (PAX 3: for type I syndrome, MITF and EDN3 for types II and IV respectively). We report the case of a patient with Waardenburg type I morphotype who had atypical neurological manifestations. Decisive elements for diagnosis were the presence of Waardenburg syndrome in the family and, in affected kin, a mutation causing a shift in PAX 3 gene reading. This case confirms the variability of Waardenburg signs within one family. The association of unusual neurological manifestations in the proband suggested that Vogt Koyanagi Harada disease may have been associated and may show some relationship with familial Waardenburg syndrome.

Bone lesions in Chinese POEMS syndrome patients: imaging characteristics and clinical implications

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Fengdan Wang

2016-08-01

Full Text Available Objective. Bone lesion is crucial for diagnosing and management of polyneuropathy, organomegaly, endocrinopathy, monoclonal protein, and skin change (POEMS syndrome, a rare plasma cell disorder. This study is to compare the effectiveness of X-ray skeletal survey (SS and computed tomography (CT for detecting bone lesions in Chinese POEMS syndrome patients, and to investigate the relationship between bone lesion features and serum markers. Methods. SS and chest/abdomen/pelvic CT images of 38 Chinese patients (26 males, 12 females, aged 21–70 years with POEMS syndrome recruited at our medical center between January 2013 and January 2015 were retrospectively analyzed. Bone lesions identified by CT were further categorized according to the size (10 mm and appearance (osteosclerotic, lytic, mixed. The percentage of plasma cells in bone marrow smears, type of immunoglobulin, platelet (Plt, and levels of serum bone metabolic markers and inflammatory factors including alkaline phosphatase (ALP, calcium, phosphate, parathyroid hormone (PTH, beta-isomerized C-telopeptide (β-CTx, vascular endothelial growth factor (VEGF, and interleukin (IL-6 levels were also recorded. Results. Of the 38 POEMS syndrome patients, the immunoglobulin heavy chain isotypes were IgA in 25 patients (65.8%; 25/38 and IgG in 13 patients (34.2%; 13/38, and the light chain isotypes were λ in 35 patients (92.1%; 35/38 and κ in 3 patients (7.9%; 3/38. There were 23 patients with thrombocytosis. More patients with bone lesions were detected by CT than by SS (97.4% vs. 86.8%. The most commonly affected location was the pelvis (89.5%, followed by the spine, clavicle/scapula/sternum/ribs, skull, and long bones. Of the 38 POEMS syndrome patients, 35 (94.6% had osteosclerotic and 32 (86.5% had mixed lesions. Osteosclerotic lesions were typically scattered, variable in size, and plaque-like, whereas mixed lesions were pouch-shaped or soup bubble-like with a clear sclerotic margin and were

Importance of Recognizing Carpal Tunnel Syndrome for Neurosurgeons: A Review.

Science.gov (United States)

Yunoki, Masatoshi; Kanda, Takahiro; Suzuki, Kenta; Uneda, Atsuhito; Hirashita, Koji; Yoshino, Kimihiro

2017-04-15

Idiopathic carpal tunnel syndrome (CTS) is a common complaint, reflecting entrapment neuropathy of the upper extremity. CTS produces symptoms similar to those of other conditions, such as cervical spondylosis or ischemic or neoplastic intracranial disease. Because of these overlaps, patients with CTS are often referred to a neurosurgeon. Surgical treatment of CTS was started recently in our department. Through this experience, we realized that neurosurgeons should have an increased awareness of this condition so they can knowledgeably assess patients with a differential diagnosis that includes CTS and cervical spinal and cerebral disease. We conducted a literature review to gain the information needed to summarize current knowledge on the clinical, pathogenetic, and therapeutic aspects of CTS. Because the optimal diagnostic criteria for this disease are still undetermined, its diagnosis is based on the patient's history and physical examination, which should be confirmed by nerve conduction studies and imaging modalities such as magnetic resonance imaging and ultrasonography. Treatment methods include observation, medication, splinting, steroid injections, and surgical intervention. Understanding the clinical features and pathogenesis of CTS, as well as the therapeutic options available to treat it, is important for neurosurgeons if they are to provide the correct management of patients with this disease.

Cortical heterotopia in Aicardi's syndrome - CT findings

International Nuclear Information System (INIS)

Besenski, N.; Bosnjak, V.; Ligutic, I.; Marusic-Della Marina, B.

1988-01-01

The case of 5-month-old female infant with Aicardi's syndrome is presented. The main clinical features were severe developmental retardation and intractable epileptic seizures. Ophthalmoscopic examination revealed pathognomonic choriorethinopathy. Ultrasonic examination of the brain detected agenesis of the corpus callosum, whereas CT showed a coexisting malformation of the brain, i.e. cortical heterotopia of the gray matter. Agenesis of the corpus callosum is an entity well-recognized by sonography. However, ultrasonography is an insufficient modality for the visualization of cortical heterotopia which is common to all cases of Aicardi's syndrome. Therefore, in cases of suspected Aicardi's syndrome CT is recommended, as it enables the diagnosis of cortical heterotopia. (orig.)

Inherited Wolff–Parkinson–White Syndrome

Directory of Open Access Journals (Sweden)

Yang Liu, MD, PhD

2016-02-01

Full Text Available Wolff–Parkinson–White (WPW syndrome is a congenital disorder of cardiac conduction system characterized by electrocardiographic preexcitation and episodes of paroxysmal supraventricular tachycardia. It is caused by a cardiac developmental defect in the electrical insulation between the atria and the ventricles due to the presence of an accessory pathway. WPW syndrome is a common cause of supraventricular tachycardia with benign prognosis. However, this clinical entity also predisposes patients to an increased risk of sudden cardiac death, especially in the setting of preexcited atrial fibrillation. WPW syndrome is usually sporadic and of unknown etiology in most cases. During the past 10 years, a significant heritable factor is increasingly recognized. Identification of the genetic basis among patients with WPW syndrome has important implications for understanding the molecular mechanism of ventricular preexcitation and the development of therapeutic strategies for risk stratification and management. The goal of this review is to examine the previous studies on hereditary variants, as well as to outline potential future avenues toward defining the heritability of WPW syndrome.

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

Science.gov (United States)

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

2013-01-01

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

Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.

Science.gov (United States)

Colombi, Marina; Dordoni, Chiara; Chiarelli, Nicola; Ritelli, Marco

2015-03-01

Joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT) is an evolving and protean disorder mostly recognized by generalized joint hypermobility and without a defined molecular basis. JHS/EDS-HT also presents with other connective tissue features affecting a variety of structures and organs, such as skin, eye, bone, and internal organs. However, most of these signs are present in variable combinations and severity in many other heritable connective tissue disorders. Accordingly, JHS/EDS-HT is an "exclusion" diagnosis which needs the absence of any consistent feature indicative of other partially overlapping connective tissue disorders. While both Villefranche and Brighton criteria include such an exclusion as a mandatory item, a systematic approach for reaching a stringent clinical diagnosis of JHS/EDS-HT is still lacking. The absence of a consensus on the diagnostic approach to JHS/EDS-HT concerning its clinical boundaries with similar conditions contribute to limit our actual understanding of the pathologic and molecular bases of this disorder. In this review, we revise the differential diagnosis of JHS/EDS-HT with those heritable connective tissue disorders which show a significant overlap with the former and mostly include EDS classic, vascular and kyphoscoliotic types, osteogenesis imperfecta, Marfan syndrome, Loeys-Dietz syndrome, arterial tortuosity syndrome, and lateral meningocele syndrome. A diagnostic flow chart is also offered with the attempt to support the less experienced clinician in stringently recognizing JHS/EDS-HT and stimulate the debate in the scientific community for both management and research purposes. © 2015 Wiley Periodicals, Inc.

Alport’s syndrome with focal segmental glomerulosclerosis lesion – Pattern to recognize

Directory of Open Access Journals (Sweden)

Afnan A Alsahli

2018-01-01

Full Text Available The association between Alport’s syndrome (AS and focal segmental glomerulosclerosis (FSGS in the same patient is complex and rarely reported. We report a case of a 42-year-old male presenting with proteinuria, microscopic hematuria, elevated serum creatinine and hypertension with unremarkable physical examination apart from obesity. The renal biopsy showed well-established FSGS pattern of injury with mild interstitial fibrosis and tubular atrophy, while the electron microscopic examination demonstrated glomerular basement membranes (GBM changes compatible with AS. AS can be complicated by segmental glomerular scarring, which can mimic primary FSGS, while familial FSGS can result from mutations in collagen IV network of the GBM. This overlap can complicate histopathological interpretation of renal biopsy, which should be accompanied by mutational analysis for accurate diagnosis and proper therapeutic intervention.

Central pontine and extrapontine myelinolysis in an infant associated with the treatment of craniopharyngioma: case report.

Science.gov (United States)

Tsutsumi, Satoshi; Yasumoto, Yukimasa; Ito, Masanori

2008-08-01

A 3-year-old girl presented with osmotic demyelination syndrome after undergoing uneventful neuroendoscopic cystostomy for a growing cystic suprasellar craniopharyngioma following microscopic subtotal resection 1 year previously. Endocrinopathy had well been controlled by hormone replacement therapy and administration of 1-amino-8-d-arginine-vasopressin with serum sodium concentration within the normal range. She presented generalized seizure and fever on postoperative day 7, with hyponatremia beginning on postoperative day 4 and deteriorating despite frequent correction. The serum sodium concentration began to fluctuate on the same day, in the range 111-164 mEq/l, which lasted for 2 weeks, refractory for intense management. Her body temperature also fluctuated between hypo- and hyperthermia not correlated with serum inflammatory markers. Her conscious disturbance progressively deteriorated with spastic paraparesis. T(2)-weighted magnetic resonance (MR) imaging taken on postoperative day 19 revealed hyperintense areas in the pons, external capsule, bilateral thalami, and basal nuclei, which had not been recognized before, suggesting osmotic demyelination syndrome causing central pontine and extrapontine myelinolysis. MR imaging taken on postoperative days 230 and 360 showed some diminished lesions but others persisted and resulted in a cavity. The patient's depressed conscious level did not improve. Suprasellar craniopharyngioma with long-standing hypothalamic dysfunction may be associated with severe osmotic demyelination syndrome even after less invasive surgery, so serum sodium derangement after surgery should be promptly corrected even if only subtle signs are present.

[Refeeding syndrome : Pathophysiology, risk factors, prevention, and treatment].

Science.gov (United States)

Wirth, R; Diekmann, R; Janssen, G; Fleiter, O; Fricke, L; Kreilkamp, A; Modreker, M K; Marburger, C; Nels, S; Pourhassan, M; Schaefer, R; Willschrei, H-P; Volkert, D

2018-04-01

Refeeding syndrome is a life-threatening complication that may occur after initiation of nutritional therapy in malnourished patients, as well as after periods of fasting and hunger. Refeeding syndrome can be effectively prevented and treated if its risk factors and pathophysiology are known. The initial measurement of thiamine level and serum electrolytes, including phosphate and magnesium, their supplementation if necessary, and a slow increase in nutritional intake along with close monitoring of serum electrolytes play an important role. Since refeeding syndrome is not well known and the symptoms can be extremely heterogeneous, this complication is poorly recognized, especially against the background of severe disease and multimorbidity. This overview aims to summarize the current knowledge and increase awareness about refeeding syndrome.

Polycystic ovary syndrome: update on diagnosis and treatment.

Science.gov (United States)

Setji, Tracy L; Brown, Ann J

2014-10-01

Polycystic ovary syndrome is now a well-recognized condition affecting 6%-25% of reproductive-aged women, depending on the definition. Over the past 3 decades, research has launched it from relative medical obscurity to a condition increasingly recognized as common in internal medicine practices. It affects multiple systems, and requires a comprehensive perspective on health care for effective treatment. Metabolic derangements and associated complications include insulin resistance and diabetes, hyperlipidemia, hypertension, fatty liver, metabolic syndrome, and sleep apnea. Reproductive complications include oligo-/amenorrhea, sub-fertility, endometrial hyperplasia, and cancer. Associated psychosocial concerns include depression and disordered eating. Additionally, cosmetic issues include hirsutism, androgenic alopecia, and acne. This review organizes this multi-system approach around the mnemonic "MY PCOS" and discusses evaluation and treatment options for the reproductive, cosmetic, and metabolic complications of this condition. Copyright © 2014 Elsevier Inc. All rights reserved.

Serotonin syndrome associated with sertraline use: case report

OpenAIRE

Bárbara Werner Griciunas; Norton Yoshiaki Kitanishi; Renata Carvalho de Souza; Daniel Azevedo Cavalcante; Leonardo Mattiolli Marini

2017-01-01

Case report of serotonin syndrome in patient who initiated the use of sertraline at a dose greater than twice the recommended for the treatment of psychotic depression. The patient presented contracture of the limbs, puzzled look, mutism and blood pressure 230x110 mmHg. The syndrome is increasingly common, although it is not well recognized. Many medications can cause it and this possibility should be considered in patients taking serotonergic drugs presenting autonomic or mental disorders an...

Neuroaetiology of chronic fatigue syndrome : An overview

NARCIS (Netherlands)

Sanders, Patricia; Korf, Jakob

2008-01-01

Chronic fatigue syndrome (CFS) is now recognized as a medial disorder. In contrast to recent related reports, the present review focuses primarily on aetiological aspects of CFS. Four major hypotheses are reviewed. (1) Although CFS is often associated with viral infection, the presence of viruses

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care

DEFF Research Database (Denmark)

Ivanovski, Ivan; Djuric, Olivera; Caraffi, Stefano Giuseppe

2018-01-01

PurposeMowat-Wilson syndrome (MWS) is a rare intellectual disability/multiple congenital anomalies syndrome caused by heterozygous mutation of the ZEB2 gene. It is generally underestimated because its rarity and phenotypic variability sometimes make it difficult to recognize. Here, we aimed to be...

Acral acanthosis nigricans in a case of scleroderma

Directory of Open Access Journals (Sweden)

Mahendra M Kura

2015-01-01

Full Text Available Acanthosis nigricans (AN is a dermatosis characterized by velvety, papillomatous, brownish-black, hyperkeratotic plaques, typically on the intertriginous surfaces and neck. The majority (80% of AN occurs idiopathically or in benign conditions such as endocrinopathies like diabetes mellitus, polycystic ovary syndrome; metabolic syndrome and/or heritable disease. Malignancy-associated AN is rare. AN may rarely be associated with autoimmune diseases including systemic lupus erythematosus, due to antibodies to the insulin receptor, so-called type B insulin resistance. Here we report a case of AN in a case of diffuse progressive systemic sclerosis without evidence of insulin resistance.

Al-Awadi/Raas-Rothschild Syndrome in a Newborn with Additional Anomalies

Science.gov (United States)

Alp, Esma; Atabek, Mehmet Emre; Pirgon, Özgür

2010-01-01

Al-Awadi/Raas-Rothschild (AARR) syndrome is a rare phocomelia syndrome characterized by limb/pelvic hypoplasia/aplasia, renal anomalies such as horseshoe and polycystic kidney, and abnormal facial features including cleft palate, hypertelorism and micro-retrognatia. Autosomal recessive inheritance has been proposed for AARR syndrome. In this report a boy affected with AARR syndrome is presented. The previous pregnancy of the mother was terminated because of lower limb agenesis detected at 14th week of gestation. This report emphasizes the importance of recognizing severe pelvic and limb deficiencies in newborns with AARR syndrome and differentiating the syndrome from other multiple malformation syndromes. Fetal ultrasonography at 15th week of gestation is helpful in diagnosing the major extremity anomalies in the fetus. Conflict of interest:None declared. PMID:21274338

Pediatric Toxic Shock Syndrome

Directory of Open Access Journals (Sweden)

Jennifer Yee

2017-09-01

Full Text Available Audience: This scenario was developed to educate emergency medicine residents on the diagnosis and management of a pediatric patient with toxic shock syndrome. The case is also appropriate for teaching of medical students and advanced practice providers, as well as a review of the principles of crisis resource management, teamwork, and communication. Introduction: Toxic shock syndrome is a low-frequency, high-acuity scenario requiring timely identification and aggressive management. If patients suffering from this condition are managed incorrectly, they may progress into multi-organ dysfunction and potentially death. Toxic shock syndrome has been associated with Streptococcus and Staphylococcus aureus (Staph. Approximately half of Staph cases are associated with menstruation, which was first described in the 1970s-1980s and was associated with the use of absorbent tampons.1 Group A Streptococcus may cause complications such as necrotizing fasciitis and gangrenous myositis.2 Pediatric patients may present critically ill from toxic shock syndrome. Providers need to perform a thorough history and physical exam to discern the source of infection. Management requires aggressive care with antibiotics and IV fluids. Objectives: By the end of this simulation session, the learner will be able to: 1 Recognize toxic shock syndrome. 2 Review the importance of a thorough physical exam. 3 Discuss management of toxic shock syndrome, including supportive care and the difference in antibiotic choices for streptococcal and staphylococcal toxic shock syndrome. 4 Appropriately disposition a patient suffering from toxic shock syndrome. 5 Communicate effectively with team members and nursing staff during a resuscitation of a critically ill patient. Method: This session was conducted using high-fidelity simulation, followed by a debriefing session and lecture on toxic shock syndrome.

Candidate gene association studies in syndromic and non-syndromic cleft lip and palate

Energy Technology Data Exchange (ETDEWEB)

Daack-Hirsch, S.; Basart, A.; Frischmeyer, P. [Univ. of Iowa, IA (United States)] [and others

1994-09-01

Using ongoing case ascertainment through a birth defects registry, we have collected 219 nuclear families with non-syndromic cleft lip and/or palate and 111 families with a collection of syndromic forms. Syndromic cases include 24 with recognized forms and 72 with unrecognized syndromes. Candidate gene studies as well as genome-wide searches for evidence of microdeletions and isodisomy are currently being carried out. Candidate gene association studies, to date, have made use of PCR-based polymorphisms for TGFA, MSX1, CLPG13 (a CA repeat associated with a human homologue of a locus that results in craniofacial dysmorphogenesis in the mouse) and an STRP found in a Van der Woude syndrome microdeletion. Control tetranucleotide repeats, which insure that population-based differences are not responsible for any observed associations, are also tested. Studies of the syndromic cases have included the same list of candidate genes searching for evidence of microdeletions and a genome-wide search using tri- and tetranucleotide polymorphic markers to search for isodisomy or structural rearrangements. Significant associations have previously been identified for TGFA, and, in this report, identified for MSX1 and nonsyndromic cleft palate only (p = 0.04, uncorrected). Preliminary results of the genome-wide scan for isodisomy has returned no true positives and there has been no evidence for microdeletion cases.

Developing the surveillance algorithm for detection of failure to recognize and treat severe sepsis.

Science.gov (United States)

Harrison, Andrew M; Thongprayoon, Charat; Kashyap, Rahul; Chute, Christopher G; Gajic, Ognjen; Pickering, Brian W; Herasevich, Vitaly

2015-02-01

To develop and test an automated surveillance algorithm (sepsis "sniffer") for the detection of severe sepsis and monitoring failure to recognize and treat severe sepsis in a timely manner. We conducted an observational diagnostic performance study using independent derivation and validation cohorts from an electronic medical record database of the medical intensive care unit (ICU) of a tertiary referral center. All patients aged 18 years and older who were admitted to the medical ICU from January 1 through March 31, 2013 (N=587), were included. The criterion standard for severe sepsis/septic shock was manual review by 2 trained reviewers with a third superreviewer for cases of interobserver disagreement. Critical appraisal of false-positive and false-negative alerts, along with recursive data partitioning, was performed for algorithm optimization. An algorithm based on criteria for suspicion of infection, systemic inflammatory response syndrome, organ hypoperfusion and dysfunction, and shock had a sensitivity of 80% and a specificity of 96% when applied to the validation cohort. In order, low systolic blood pressure, systemic inflammatory response syndrome positivity, and suspicion of infection were determined through recursive data partitioning to be of greatest predictive value. Lastly, 117 alert-positive patients (68% of the 171 patients with severe sepsis) had a delay in recognition and treatment, defined as no lactate and central venous pressure measurement within 2 hours of the alert. The optimized sniffer accurately identified patients with severe sepsis that bedside clinicians failed to recognize and treat in a timely manner. Copyright © 2015 Mayo Foundation for Medical Education and Research. Published by Elsevier Inc. All rights reserved.

A case of refeeding syndrome in a marine recruit.

Science.gov (United States)

Bunge, Paul D; Frank, Laura L

2013-04-01

Refeeding syndrome is an under-recognized complication of starvation. Presented is a 26-year-old Marine recruit who was found to have hypothermia, mental status changes, and rhabdomyolysis after purposeful weight loss with calorie restriction in conjunction with an arduous exercise program. With rest and food, the patient developed refeeding syndrome, with hypophosphatemia requiring prolonged intravenous replacement. His case is unique in illustrating both malnutrition and refeeding syndrome in someone who appeared to be healthy and was exercising strenuously up to the point of hospital admission. Reprint & Copyright © 2013 Association of Military Surgeons of the U.S.

Ecstasy-induced acute coronary syndrome: something to rave about.

Science.gov (United States)

Hoggett, Kerry; McCoubrie, David; Fatovich, Daniel M

2012-06-01

Ecstasy or 3,4-methylenedioxymethamphetamine is a commonly used illicit recreational drug, enjoying popularity for its stimulant effects. Although acute coronary syndrome is recognized after cocaine and methamphetamine use, association with Ecstasy use has rarely been reported. We report three cases of significantly delayed acute coronary syndrome and ST elevation myocardial infarction related to ingestion of Ecstasy. © 2012 The Authors. EMA © 2012 Australasian College for Emergency Medicine and Australasian Society for Emergency Medicine.

[Burnout syndrome: a "true" cardiovascular risk factor].

Science.gov (United States)

Cursoux, Pauline; Lehucher-Michel, Marie-Pascale; Marchetti, Hélène; Chaumet, Guillaume; Delliaux, Stéphane

2012-11-01

The burnout syndrome is characterized by emotional exhaustion, depersonalization and reduced personal accomplishment in individuals professionally involved with others. The burnout syndrome is poorly recognized, particularly in France, as a distinct nosology from adaptation troubles, stress, depression, or anxiety. Several tools quantifying burnout and emotional exhaustion exist, the most spread is the questionnaire called Maslach Burnout Inventory. The burnout syndrome alters cardiovascular function and its neuroregulation by autonomic nervous system and is associated with: increased sympathetic tone to heart and vessels after mental stress, lowered physiological post-stress vagal rebound to heart, and lowered arterial baroreflex sensitivity. Job strain as burnout syndrome seems to be a real independent cardiovascular risk factor. Oppositely, training to manage emotions could increase vagal tone to heart and should be cardio-protective. Copyright © 2012 Elsevier Masson SAS. All rights reserved.

Congenital nephrotic syndrome. Gallium-67 imaging

International Nuclear Information System (INIS)

Trepashko, D.W.; Gelfand, M.J.; Pan, C.C.

1988-01-01

Congenital nephrotic syndrome is a rare disorder. Heavy proteinuria, hypoalbuminemia, and edema occur during the first 3 months of life. Initial cases were reported from Finland and sporadic cases have occurred elsewhere. Finnish cases demonstrated an autosomal recessive inheritance pattern; currently, Finnish and non-Finnish types are recognized. The clinical course consists of failure to thrive, frequent infections, declining renal function, and early death by age 4 years from sepsis or uremia. Recently renal transplantation has improved the prognosis of patients with this disease. An abnormal Ga-67 scan in a case of congenital nephrotic syndrome is presented

Bisphosphonate-induced zebra lines in fibrous dysplasia of bone: histo-radiographic correlation in a case of McCune-Albright syndrome

Energy Technology Data Exchange (ETDEWEB)

Corsi, Alessandro; Riminucci, Mara [Sapienza University, Department of Molecular Medicine, Rome (Italy); Ippolito, Ernesto [University of Rome Tor Vergata, Department of Orthopaedic Surgery, Rome (Italy); Robey, Pamela G. [Skeletal Biology Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Department of Health and Human Services, Bethesda, MD (United States); Boyde, Alan [Queen Mary University of London, Dental Physical Sciences, London (United Kingdom)

2017-10-15

Bisphosphonates (BPs) are currently used in the treatment of diverse bone diseases including fibrous dysplasia of bone (FD). In pediatric patients, a radiographic consequence of cyclical administration of BPs is the development of apo-, epi-, and meta-physeal sclerotic bands, otherwise known as zebra lines, which result from the temporary inhibition of osteoclastic activity at the time of drug treatment. We report here on a child with McCune-Albright syndrome (FD in addition to hyperfunctioning endocrinopathies and skin hyperpigmentation) treated with cyclical intravenous infusions of pamidronate in which conventional radiography, contact microradiography, histology, and backscattered electron image analysis demonstrated that zebra lines formed only where bone was normal, were arrested at the boundary between FD-unaffected and FD-affected bone where bone is sclerotic, and were absent within the undermineralized FD bone. Moreover, in spite of the treatment, the FD lesions continued to expand. This case report is unique because no previously published studies correlated the radiographic and the histologic features of BP-induced zebra lines in the metaphysis of an FD-affected long bone of the limbs. (orig.)

Bisphosphonate-induced zebra lines in fibrous dysplasia of bone: histo-radiographic correlation in a case of McCune-Albright syndrome

International Nuclear Information System (INIS)

Corsi, Alessandro; Riminucci, Mara; Ippolito, Ernesto; Robey, Pamela G.; Boyde, Alan

2017-01-01

Bisphosphonates (BPs) are currently used in the treatment of diverse bone diseases including fibrous dysplasia of bone (FD). In pediatric patients, a radiographic consequence of cyclical administration of BPs is the development of apo-, epi-, and meta-physeal sclerotic bands, otherwise known as zebra lines, which result from the temporary inhibition of osteoclastic activity at the time of drug treatment. We report here on a child with McCune-Albright syndrome (FD in addition to hyperfunctioning endocrinopathies and skin hyperpigmentation) treated with cyclical intravenous infusions of pamidronate in which conventional radiography, contact microradiography, histology, and backscattered electron image analysis demonstrated that zebra lines formed only where bone was normal, were arrested at the boundary between FD-unaffected and FD-affected bone where bone is sclerotic, and were absent within the undermineralized FD bone. Moreover, in spite of the treatment, the FD lesions continued to expand. This case report is unique because no previously published studies correlated the radiographic and the histologic features of BP-induced zebra lines in the metaphysis of an FD-affected long bone of the limbs. (orig.)

Metabolic syndrome and cardiovascular risk

Directory of Open Access Journals (Sweden)

Abdullah M Alshehri

2010-01-01

Full Text Available The constellation of dyslipidemia (hypertriglyceridemia and low levels of high-density lipoprotein cholesterol, elevated blood pressure, impaired glucose tolerance, and central obesity is now classified as metabolic syndrome, also called syndrome X. In the past few years, several expert groups have attempted to set forth simple diagnostic criteria for use in clinical practice to identify patients who manifest the multiple components of the metabolic syndrome. These criteria have varied somewhat in specific elements, but in general, they include a combination of multiple and metabolic risk factors. The most widely recognized of the metabolic risk factors are atherogenic dyslipidemia, elevated blood pressure, and elevated plasma glucose. Individuals with these characteristics, commonly manifest a prothrombotic state as well as and a proinflammatory state. Atherogenic dyslipidemia consists of an aggregation of lipoprotein abnormalities including elevated serum triglyceride and apolipoprotein B (apoB, increased small LDL particles, and a reduced level of HDL cholesterol (HDL-C. The metabolic syndrome is often referred to as if it were a discrete entity with a single cause. Available data suggest that it truly is a syndrome, ie, a grouping of atherosclerotic cardiovascular disease (ASCVD risk factors, that probably has more than one cause. Regardless of cause, the syndrome identifies individuals at an elevated risk for ASCVD. The magnitude of the increased risk can vary according to the components of the syndrome present as well as the other, non-metabolic syndrome risk factors in a particular person.

Metabolic syndrome and cardiovascular risk

Directory of Open Access Journals (Sweden)

Abdullah M Alshehri

2010-11-01

Full Text Available The constellation of dyslipidemia (hypertriglyceridemia and low levels of high-density lipoprotein cholesterol, elevated blood pressure, impaired glucose tolerance, and central obesity is now classified as metabolic syndrome, also called syndrome X. In the past few years, several expert groups have attempted to set forth simple diagnostic criteria for use in clinical practice to identify patients who manifest the multiple components of the metabolic syndrome. These criteria have varied somewhat in specific elements, but in general, they include a combination of multiple and metabolic risk factors. The most widely recognized of the metabolic risk factors are atherogenic dyslipidemia, elevated blood pressure, and elevated plasma glucose. Individuals with these characteristics, commonly manifest a prothrombotic state as well as and a proinflammatory state. Atherogenic dyslipidemia consists of an aggregation of lipoprotein abnormalities including elevated serum triglyceride and apolipoprotein B (apoB, increased small LDL particles, and a reduced level of HDL cholesterol (HDL-C. The metabolic syndrome is often referred to as if it were a discrete entity with a single cause. Available data suggest that it truly is a syndrome, ie, a grouping of atherosclerotic cardiovascular disease (ASCVD risk factors, that probably has more than one cause. Regardless of cause, the syndrome identifies individuals at an elevated risk for ASCVD. The magnitude of the increased risk can vary according to the components of the syndrome present as well as the other, non-metabolic syndrome risk factors in a particular person.

Primary antiphospholipid antibody syndrome with adrenal hemorrhage in a child : a case report

Energy Technology Data Exchange (ETDEWEB)

Kim, Dong Hun; Lee, Soo Hyun; Kim, Hyun Joo; Yoo, Han Wook; Yoon, Chong Hyun [Ulsan Univ. College of Medicine, Seoul (Korea, Republic of)

1999-11-01

Primary antiphospholipid antibody syndrome is a disease that is clinically diagnosed if a patient suffers recurrent thromboses, stroke, recurrent fetal loss, livedo reticularis, and thrombocytopenia, without evidence of systemic lupus erythematosus or other connective diseases. Adrenal hemorrhage in a patient with primary antiphospholipid antibody syndrome is a rarely recognized, but potentially catastrophic disorder. We recently encountered bilateral adrenal hemorrhaging in a child with antiphospholipid antibody syndrome and casem as well as reviewing the literature.

Primary antiphospholipid antibody syndrome with adrenal hemorrhage in a child : a case report

International Nuclear Information System (INIS)

Kim, Dong Hun; Lee, Soo Hyun; Kim, Hyun Joo; Yoo, Han Wook; Yoon, Chong Hyun

1999-01-01

Primary antiphospholipid antibody syndrome is a disease that is clinically diagnosed if a patient suffers recurrent thromboses, stroke, recurrent fetal loss, livedo reticularis, and thrombocytopenia, without evidence of systemic lupus erythematosus or other connective diseases. Adrenal hemorrhage in a patient with primary antiphospholipid antibody syndrome is a rarely recognized, but potentially catastrophic disorder. We recently encountered bilateral adrenal hemorrhaging in a child with antiphospholipid antibody syndrome and casem as well as reviewing the literature

Posterior reversible encephalopathy syndrome mimicking a left middle cerebral artery stroke.

Science.gov (United States)

Terranova, Santo; Kumar, Jai Dev; Libman, Richard B

2012-01-01

Certain Acute Clinical presentations are highly suggestive of stroke caused by specific mechanisms. One example of this would be the sudden onset of aphasia without hemiparesis often reflecting cerebral embolism, frequently from a cardiac source. Posterior reversible encephalopathy syndrome (PRES) describes a usually reversible neurologic syndrome with a variety of presenting symptoms from headache, altered mental status, seizures, vomiting, diminished spontaneity and speech, abnormalities of visual perception and visual loss. We report a patient presenting with elevated blood pressure, CT characteristics of PRES but a highly circumscribed neurologic syndrome (Wernicke's Aphasia without hemiparesis) suggestive of a cardioembolic stroke affecting the left MCA territory. That is, PRES mimicked a focal stroke syndrome. The importance of recognizing this possibility is that his deficits resolved with blood pressure control, while other treatments, such as intensifying his anticoagulation would have been inappropriate. In addition, allowing his blood pressure to remain elevated as is often done in the setting of an acute stroke might have perpetuated the underlying pathophysiology of PRES leading to a worse clinical outcome. For this reason PRES needs to be recognized quickly and treated appropriately.

Comparison of the efficiency of clomiphene citrate and letrozole in combination with metformin in moderately obese clomiphene citrate-resistant polycystic ovarian syndrome patients.

Science.gov (United States)

Bjelica, Artur; Trninić-Pjević, Aleksandra; Mladenović-Segedi, Ljiljana; Cetković, Nenad; Petrović, Djordje

2016-01-01

Polycystic ovary syndrome is the most common endocrinopathy in women of reproductive-age. Therapy for those who want to get pregnant involves ovulation induction using clomiphene citrate, metformin, letrozole and gonadotropins. The aim of the study was to compare the efficacy of combinations of clomiphene citrate-metformin and letrozole-metformin in obese patients who are resistant to clomiphene citrate alone. The investigation was conducted as a retrospective study involving 60 moderately obese patients with polycystic ovary syndrome. Thirty-one of them received the clomiphene citrate-metformin, and 29 letrozole-metformin therapy. Stimulation was carried out for the procedures of intrauterine insemination (IUI). The age of patients, duration of infertility, and body mass index in both groups were similar. There was statistically significant difference in the thickness of the endometrium in favor of the group having the letrozole-metformin therapy (8.9 ± 1.7 mm) compared with the group receiving the clomiphene citrate-metformin treatment (6.3 ± 1.3 mm). The number of follicles was not statistically significantly different. Pregnancy rate in the first cycle of IUI in the clomiphene citrate group was 6.4%, and 17.2% in the letrozole group, which also was not statistically different. After the third IUI cycle, the pregnancy rate was significantly higher in the letrozole group (20.6%), while in the clomiphene citrate group it was (9.6%). This retrospective study demonstrated the advantages of the use of letrozole over clomiphene citrate in combination with metformin in moderately obese patients with polycystic ovary syndrome who are resistant to stimulation with clomiphene citrate alone.

Equine metabolic syndrome in Colombian creole horse: case report

OpenAIRE

Castillo, C.A.; Jaramillo, C.; Loaiza, M.J.; Blanco, R.

2017-01-01

ABSTRACT The equine metabolic syndrome is a condition that can be recognized because of obesity, insulin resistance and laminitis. Genetic factors could play a role in the occurrence of this syndrome. Certain breeds such as ponies (including the South American creole horses) have a lower sensibility to insulin and a higher prevalence of hyperinsulinemia. The environment and management conditions, such as overfeeding and lack of exercise are factors that bring a propensity for obesity. The adi...

Wernicke-korsakoff syndrome in primary peritoneal cancer.

Science.gov (United States)

Kim, Ki Hyang

2013-09-01

Wernicke encephalopathy is a disease that constitutes a medical emergency, but one that can be reversed with thiamine repletion if it is recognized early. Patients with cancer have a high risk of Wernicke encephalopathy because of malnutrition, the use of chemotherapeutic agents, and disease progression. Korsakoff syndrome can follow or accompany Wernicke encephalopathy. Although patients can recover from Wernicke encephalopathy via rapid repletion of thiamine, few patients recover from Korsakoff syndrome. Here, the case of a 76-year-old female patient who had primary peritoneal cancer and developed Wernicke-Korsakoff syndrome as a result of prolonged nutritional imbalance and fast-growing tumor cells is reported. The patient's neurologic symptoms improved, but she did not recover from the psychiatric effects of the disease.

Wernicke-Korsakoff Syndrome in Primary Peritoneal Cancer

Directory of Open Access Journals (Sweden)

Ki Hyang Kim

2013-12-01

Full Text Available Wernicke encephalopathy is a disease that constitutes a medical emergency, but one that can be reversed with thiamine repletion if it is recognized early. Patients with cancer have a high risk of Wernicke encephalopathy because of malnutrition, the use of chemotherapeutic agents, and disease progression. Korsakoff syndrome can follow or accompany Wernicke encephalopathy. Although patients can recover from Wernicke encephalopathy via rapid repletion of thiamine, few patients recover from Korsakoff syndrome. Here, the case of a 76-year-old female patient who had primary peritoneal cancer and developed Wernicke-Korsakoff syndrome as a result of prolonged nutritional imbalance and fast-growing tumor cells is reported. The patient's neurologic symptoms improved, but she did not recover from the psychiatric effects of the disease.

Emotion Recognition in Children with Down Syndrome: Influence of Emotion Label and Expression Intensity

Science.gov (United States)

Cebula, Katie R.; Wishart, Jennifer G.; Willis, Diane S.; Pitcairn, Tom K.

2017-01-01

Some children with Down syndrome may experience difficulties in recognizing facial emotions, particularly fear, but it is not clear why, nor how such skills can best be facilitated. Using a photo-matching task, emotion recognition was tested in children with Down syndrome, children with nonspecific intellectual disability and cognitively matched,…

Gastrointestinal and Hepatic Disease in Sjogren Syndrome.

Science.gov (United States)

Popov, Yevgeniy; Salomon-Escoto, Karen

2018-02-01

Sjogren syndrome (SS) is a lymphocyte-mediated, infiltrative autoimmune disorder characterized by destruction of exocrine glands leading to secretory dysfunction. The typical manifestations include xerostomia and xerophthalmia; however, extensive gastrointestinal involvement is increasingly being recognized, emphasizing the variable and systemic nature of SS. Copyright © 2017 Elsevier Inc. All rights reserved.

The Duty to Recognize Culture

DEFF Research Database (Denmark)

Nielsen, Morten Ebbe Juul

2012-01-01

On Taylor and Honneth's theories of recognition and whether one can derive a "duty to recognize Culture" from these......On Taylor and Honneth's theories of recognition and whether one can derive a "duty to recognize Culture" from these...

Polycystic Ovary Syndrome as a Proinflammatory State: The Role of Adipokines.

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Dimitriadis, Georgios K; Kyrou, Ioannis; Randeva, Harpal S

2016-01-01

Polycystic Ovary Syndrome (PCOS) is a complex heterogeneous disorder and the most common endocrinopathy amongst women of reproductive age. It is characterized by androgen excess, chronic anovulation and an altered cardiometabolic profile. PCOS is linked to impaired adipose tissue (AT) physiology and women with this disorder present with greater risk for insulin resistance (IR), hyperinsulinemia, central adiposity, nonalcoholic fatty liver disease (NAFLD) and type 2 diabetes mellitus (T2DM) than matched for age and body mass index (BMI) women without PCOS. Hyperandrogenaemia appears to be driving adipocyte hypertrophy observed in PCOS under the influence of a hyperinsulinaemic state. Changes in the function of adipocytes have an impact on the secretion of adipokines, adipose tissue-derived proinflammatory factors promoting susceptibility to low grade inflammation. In this article, we review the existing knowledge on the interplay between hyperandrogenaemia, insulin resistance, impaired adipocyte biology, adipokines and chronic low-grade inflammation in PCOS. In PCOS, more than one mechanisms have been suggested in the development of a chronic low-grade inflammation state with the most prevalent being that of a direct effect of the immune system on adipose tissue functions as previously reported in obese women without PCOS. Despite the lack of conclusive evidence regarding a direct mechanism linking hyperandrogenaemia to pro-inflammation in PCOS, there have been recent findings indicating that hyperandrogenaemia might be involved in chronic inflammation by exerting an effect on adipocytes morphology and attributes. Increasing evidence suggests that there is an important connection and interaction between proinflammatory pathways, hyperinsulinemia, androgen excess and adipose tissue hypertrophy and, dysfunction in PCOS. While lifestyle changes and individualized prescription of insulin-sensitizing drugs are common in managing PCOS, further studies are warranted to

Combined Lifestyle and Herbal Medicine in Overweight Women with Polycystic Ovary Syndrome (PCOS): A Randomized Controlled Trial

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Smith, Caroline A.; Abbott, Jason; Fahey, Paul; Cheema, Birinder S.; Bensoussan, Alan

2017-01-01

Polycystic ovary syndrome (PCOS) is a common, complex reproductive endocrinopathy characterized by menstrual irregularities, hyperandrogenism and polycystic ovaries. Lifestyle modification is a first‐line intervention; however, there are barriers to success for this form of self‐care, and women often seek adjunct therapies including herbal medicines. This pragmatic, randomized controlled trial, delivered in communities of Australia in overweight women with PCOS, compared the effectiveness and safety of a lifestyle intervention plus herbal medicine against lifestyle alone. All participants were helped to construct a personalized lifestyle plan. The herbal intervention consisted of two tablets. Tablet 1 contained Cinnamomum verum, Glycyrrhiza glabra, Hypericum perforatum and Paeonia lactiflora. Tablet 2 contained Tribulus terrestris. The primary outcome was oligomenorrhoea/amenorrhoea. Secondary outcomes were hormones; anthropometry; quality of life; depression, anxiety and stress; pregnancy; birth outcomes; and safety. One hundred and twenty‐two women gave their consent. At 3 months, women in the combination group recorded a reduction in oligomenorrhoea of 32.9% (95% confidence interval 23.3–42.6, p herbal medicines in women with PCOS. © 2017 The Authors. Phytotherapy Research published by John Wiley & Sons Ltd PMID:28685911

Recognition of facial expressions and prosodic cues with graded emotional intensities in adults with Asperger syndrome.

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Doi, Hirokazu; Fujisawa, Takashi X; Kanai, Chieko; Ohta, Haruhisa; Yokoi, Hideki; Iwanami, Akira; Kato, Nobumasa; Shinohara, Kazuyuki

2013-09-01

This study investigated the ability of adults with Asperger syndrome to recognize emotional categories of facial expressions and emotional prosodies with graded emotional intensities. The individuals with Asperger syndrome showed poorer recognition performance for angry and sad expressions from both facial and vocal information. The group difference in facial expression recognition was prominent for stimuli with low or intermediate emotional intensities. In contrast to this, the individuals with Asperger syndrome exhibited lower recognition accuracy than typically-developed controls mainly for emotional prosody with high emotional intensity. In facial expression recognition, Asperger and control groups showed an inversion effect for all categories. The magnitude of this effect was less in the Asperger group for angry and sad expressions, presumably attributable to reduced recruitment of the configural mode of face processing. The individuals with Asperger syndrome outperformed the control participants in recognizing inverted sad expressions, indicating enhanced processing of local facial information representing sad emotion. These results suggest that the adults with Asperger syndrome rely on modality-specific strategies in emotion recognition from facial expression and prosodic information.

Ameliorative effects of rutin against metabolic, biochemical and hormonal disturbances in polycystic ovary syndrome in rats.

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Jahan, Sarwat; Munir, Faryal; Razak, Suhail; Mehboob, Anam; Ain, Qurat Ul; Ullah, Hizb; Afsar, Tayyaba; Shaheen, Ghazala; Almajwal, Ali

2016-12-07

Polycystic ovary syndrome (PCOS) is the most prevalent endocrinopathy in women of reproductive age. The study was commenced to assess the favorable effects of Rutin against metabolic, biochemical, histological, and androgenic aspects of polycystic ovary syndrome in rats. Female Sprague-Dawley rats were administered letrozole (1 mg/kg) per orally (p.o) for a period of 21 days for the induction of PCOS, followed by dose of rutin (100 mg/kg and 150 mg/kg, p.o) for 15 days using 0.5% w/v CMC as vehicle. Metformin was also given as a standard control to one of the rat groups. Serum estradiol, progesterone, testosterone, serum lipid parameters, CRP and glucose levels were evaluated. Furthermore, antioxidant activity was tested using superoxide dismutase, catalase, glutathione per-oxidase and reactive-oxygen species level. Rutin flavonoid had a dose-dependent effect on androgenic levels depicting more recovery in the rutin-I treated group, while rutin-II treated groups showed better antioxidant and lipid profiles as compared with PCOS groups. A decrease in the value of C reactive protein (CRP) and a restoration in the proportion of estrous phase smears were observed in the rutin treated groups. Histopathological examination of ovary revealed a significant decrease in the number of cystic follicles in post treated groups. The effects observed with rutin were moderately similar to that with standard metformin, a widely used treatment drug for PCOS. The study provides evidence for the potential ameliorative effects of rutin against clinical and biochemical features of PCOS.

Primary trabeculodysgenesis in association with neonatal Marfan syndrome

NARCIS (Netherlands)

Whitelaw, CM; Anwar, S; Ades, LC; Gole, GA; Elder, JE; Savarirayan, R

2004-01-01

We present the clinical and ophthalmological findings in two infants with neonatal Marfan syndrome (nMFS) and primary trabeculodysgenesis (PT). Fibrillin 1 (FBN1) mutations were confirmed in both cases. Numerous eye anomalies have been recognized in infants with nMFS, but PT has not been reported

Treatment of anti-Ma2/Ta paraneoplastic syndrome.

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Kraker, Jessica

2009-01-01

The paraneoplastic syndrome caused by Ma2/Ta antibodies alone (not in conjunction with Ma1 or Ma3 antibodies) varies in presentation from classic limbic encephalitis. The Ma2 syndrome may present with symptoms referable to the brainstem, diencephalon, and limbic system. These clinical symptoms are accompanied by MRI changes and abnormal electroencephalographic findings. It is important to recognize when the encephalitic syndrome is secondary to Ma2 paraneoplastic antibodies, as the patients improve or stabilize most often when the underlying carcinoma is treated. Treatment of the paraneoplastic syndrome begins with recognition of the symptoms, such as memory impairment, seizures, sleep disturbances, bradykinesia or hypokinesia, and eye movement abnormalities. If a primary tumor is discovered during the workup, it should be removed and treated with the most up-to-date oncologic treatment available. In addition to oncologic treatment, the syndrome may be treated with an immunosuppressant regimen to optimize the neurologic outcome. Leaving the patient untreated will result in decline and eventual death from the cancer itself or from complications of the paraneoplastic syndrome.

Fibromyalgia and chronic fatigue syndrome in children.

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Itoh, Yasuhiko; Shigemori, Tomoko; Igarashi, Tohru; Fukunaga, Yoshitaka

2012-04-01

Fibromyalgia (FM) is characterized by widespread persistent pain and the presence of multiple discrete tender points. Chronic fatigue syndrome (CFS) is a syndrome characterized by debilitating fatigue associated with a variable number of non-specific complaints. Because neither condition had necessarily been recognized in children until recently, those patients have been treated as having school refusal without being diagnosed as having either syndrome. There is a considerable overlap of clinical symptoms between these two syndromes. It is therefore controversial as to whether these syndromes have the same pathogenesis or not. The aim of the present study was to clarify the relationship between these syndromes in children. Fifteen patients with FM and 21 patients with CFS were investigated both clinically and immunologically. Immunological assessments included thorough analysis of autoantibodies using several techniques. Anti-nuclear antibody titers were higher and the prevalence of anti-Sa antibody was far more frequent in CFS patients than in FM patients. CFS and FM are different from each other at least in childhood, from an immunological aspect, although some patients could have both conditions. © 2011 The Authors. Pediatrics International © 2011 Japan Pediatric Society.

Recognition of Facial Expressions and Prosodic Cues with Graded Emotional Intensities in Adults with Asperger Syndrome

Science.gov (United States)

Doi, Hirokazu; Fujisawa, Takashi X.; Kanai, Chieko; Ohta, Haruhisa; Yokoi, Hideki; Iwanami, Akira; Kato, Nobumasa; Shinohara, Kazuyuki

2013-01-01

This study investigated the ability of adults with Asperger syndrome to recognize emotional categories of facial expressions and emotional prosodies with graded emotional intensities. The individuals with Asperger syndrome showed poorer recognition performance for angry and sad expressions from both facial and vocal information. The group…

Hepatic vena cava syndrome: New concept of pathogenesis.

Science.gov (United States)

Shrestha, Santosh Man; Kage, Masayoshi; Lee, Byung Boong

2017-06-01

Hepatic vena cava syndrome, also known as membranous obstruction of inferior vena cava (IVC), was considered a rare congenital disease and classified under Budd-Chiari syndrome. It is now recognized as a bacterial infection-induced disease related to poor hygiene. Localized thrombophlebitis of the IVC at the site close to hepatic vein outlets is the initial lesion which converts on resolution into stenosis or complete obstruction, the circulatory equilibrium being maintained by development of cavo-caval collateral anastomosis. These changes persist for the rest of the patient's life. The patient remains asymptomatic for a variable period until acute exacerbations occur, precipitated by bacterial infection, resulting in deposition of thrombi at the site of the lesion and endophlebitis in intrahepatic veins. Large thrombus close to hepatic vein outlets results in ascites from hepatic venous outflow obstruction, which is followed by development of venocentric cirrhosis. Endophlebitis of intrahepatic veins results in ischemic liver damage and development of segmental stenosis or membrane. Acute exacerbations are recognized clinically as intermittent jaundice and/or elevation of aminotransferase or ascites associated with neutrophil leukocytosis and elevation of C-reactive protein; sonologically, they are recognized as the presence of thrombi of different ages in IVC and thrombosis of intrahepatic veins. Development of liver cirrhosis and hepatocellular carcinoma is related to severity or frequency of acute exacerbations and not to duration or type of caval obstruction. Hepatic vena cava syndrome is a common co-morbid condition with other liver diseases in developing countries and it should be considered in differential diagnosis in patient with intermittent elevation serum bilirubin and or aminotransferase or development of ascites and cirrhosis. © 2017 The Japan Society of Hepatology.

Metabolic, behavioral, and reproductive effects of vertical sleeve gastrectomy in an obese rat model of polycystic ovary syndrome.

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Ressler, Ilana B; Grayson, Bernadette E; Seeley, Randy J

2014-06-01

Polycystic ovary syndrome (PCOS) is the most common endocrinopathy affecting women of reproductive age. Its clinical expression is diverse, including metabolic, behavioral, and reproductive effects, with many affected by obesity and decreased quality of life. Women with PCOS who have undergone surgically induced weight loss have reported tremendous benefit, not only with weight loss, but also improvement of hyperandrogenism and menstrual cyclicity. In a rat model of PCOS achieved via chronic administration of dihydrotestosterone (DHT) exposure, we investigated the ability of bariatric surgery, specifically vertical sleeve gastrectomy (VSG), to ameliorate the metabolic, behavioral, and reproductive abnormalities invoked by this PCOS model. We found that DHT treatment combined with exposure to a high-fat diet resulted in increased body weight and body fat, impaired fasting glucose, hirsutism, anxiety, and irregular cycles. VSG resulted in reduced food intake, body weight, and adiposity with improved fasting glucose and triglycerides. VSG induced lower basal corticosterone levels and attenuated stress responsivity. Once the DHT levels decreased to normal, regular estrous cyclicity was also restored. VSG, therefore, improved PCOS manifestations in a comprehensive manner and may represent a potential therapeutic approach for specific aspects of PCOS.

Hyper-immunoglobulin D syndrome with novel mutations in an afebrile infant.

Science.gov (United States)

Cadmus, Simi D; Green, Reid; Carrasco, Ruy; Levy, Moise L; Diaz, Lucia Z

2018-03-30

Hyper-immunoglobulin D syndrome is a rare autosomal-recessive autoinflammatory syndrome in which a mevalonate kinase deficiency results due to mutations of the mevalonate kinase gene. We report a case of an Asian male infant who was found to have hyper-immunoglobulin D syndrome in the absence of fever. His skin manifestations included cephalic pustulosis as well recurrent transient and fixed pink plaques and nodules on the face and extremities. Subsequent examination revealed hyper-immunoglobulin D syndrome with two novel allelic mutations in the mevalonate kinase gene: c.895G > A (p.D299N) and c.1168C > T (p.Q390). It is important for dermatologists to recognize the varied cutaneous presentations of hyper-immunoglobulin D syndrome because rapid diagnosis and treatment can significantly affect outcomes. © 2018 Wiley Periodicals, Inc.

CE: Nursing Management of Patients with Ehlers-Danlos Syndrome.

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Anderson, Linda K

2015-07-01

Ehlers-Danlos syndrome (EDS), a hereditary connective tissue disorder, has historically been misunderstood and underdiagnosed by health care providers. Because of the high degree of phenotypic variability, patients are often correctly diagnosed only after years of seemingly unrelated but debilitating injuries and illnesses. Specific genetic mutations have been identified for some, but not all, EDS types; patients presenting with a high index of suspicion should be referred to a geneticist. As awareness and recognition of the syndrome improve, nurses are increasingly likely to care for patients with EDS. This article gives a brief overview of the syndrome and provides guidance on ways to manage symptoms, recognize and prevent serious complications, and improve patients' quality of life.

Cortical heterotopia in Aicardi's syndrome - CT findings

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Besenski, N.; Bosnjak, V.; Ligutic, I.; Marusic-Della Marina, B.

1988-07-01

The case of 5-month-old female infant with Aicardi's syndrome is presented. The main clinical features were severe developmental retardation and intractable epileptic seizures. Ophthalmoscopic examination revealed pathognomonic choriorethinopathy. Ultrasonic examination of the brain detected agenesis of the corpus callosum, whereas CT showed a coexisting malformation of the brain, i.e. cortical heterotopia of the gray matter. Agenesis of the corpus callosum is an entity well-recognized by sonography. However, ultrasonography is an insufficient modality for the visualization of cortical heterotopia which is common to all cases of Aicardi's syndrome. Therefore, in cases of suspected Aicardi's syndrome CT is recommended, as it enables the diagnosis of cortical heterotopia.

GLUT1 deficiency syndrome into adulthood: a follow-up study

NARCIS (Netherlands)

Leen, W.G.; Taher, M.; Verbeek, M.M.; Kamsteeg, E.J.; Warrenburg, B.P.C. van de; Willemsen, M.A.

2014-01-01

GLUT1 deficiency syndrome (GLUT1DS) is a treatable neurometabolic disorder in which glucose transport into the brain is disturbed. Besides the classic phenotype of intellectual disability, epilepsy, and movement disorders, other phenotypes are increasingly recognized. These include, for example,

Munchausen syndrome by proxy: a family anthology.

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Pickford, E; Buchanan, N; McLaughlan, S

1988-06-20

While the Munchausen-by-proxy syndrome is well recognized, the story of one family has been related to describe some remarkable features. These include the psychopathology of the mother, the involvement of both children in the family, the great difficulty in obtaining proof of child abuse and, finally, the prosecution of the mother in the criminal court.

Recognizing teen depression

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... medlineplus.gov/ency/patientinstructions/000648.htm Recognizing teen depression To use the sharing features on this page, ... life. Be Aware of the Risk for Teen Depression Your teen is more at risk for depression ...

Genetics Home Reference: 22q13.3 deletion syndrome

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... 5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information How are genetic ... Veltman JA, de Vries BB. Molecular characterisation of patients with subtelomeric 22q ... L, Enns GM, Hoyme HE. Terminal 22q deletion syndrome: a newly recognized cause of ...

Heart and coronary artery damage related to Kawasaki syndrome

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A. A. Leontyeva

2014-01-01

Full Text Available Kawasaki syndrome is an acute systemic vasculitis of unknown etiology, which mainly affects children within the first 5 years of fife. At the present time, Kawasaki syndrome is recognized to be a leading cause of acquired organic heart diseases in children, which may result in coronary heart disease, myocardial infarction, and sudden death in children and young people. Most complications are associated with the cardiovascular system, with coronary artery changes in particular. Transthoracic echocardiography, which, besides coronary artery assessment, makes it possible to evaluate right and left ventricular systolic and diastolic functions and to study the cardiac valves and changes in pericardial effusion, is a major technique in Kawasaki syndrome. The paper outlines an update on the epidemiology, etiology, pathogenetic mechanisms, and pathomorphology of Kawasaki syndrome and considers possible coronary and noncoronary changes, outcomes, and clinical manifestations.

Metformin-diet ameliorates coronary heart disease risk factors and facilitates resumption of regular menses in adolescents with polycystic ovary syndrome.

Science.gov (United States)

Glueck, Charles J; Goldenberg, Naila; Wang, Ping

2009-09-01

In 20 adolescents age PCOS), we assessed efficacy and safety of metformin-diet for 1 year in treatment of endocrinopathy and coronary heart disease (CHD) risk factors. Calories were targeted to 1,500-1,800/ day if body mass index (BMI) was or = 25, along with 2,550 mg metformin. Median weight fell from 85.5 to 78.4 kg (p = 0.004), waist circumference from 91 to 84 cm (p = 0.017), triglyceride from 108 to 71 mg/dl (p = 0.008), insulin from 20.5 to 15 microU/ml (p = 0.018), HOMA-IR from 2.0 to 1.5 (p = 0.026), and testosterone from 45.5 to 31.5 ng/dl (p = 0.03). The percentage of cycles with normal menses rose from a pre-treatment median of 8% to 100%, p PCOS, metformin-diet safely ameliorates CHD risk factors and endocrinopathy while facilitating resumption of regular menses.

Multiple hemangiomas in a patient with a t(3q;4p) translocation: an infrequent association with Wolf-Hirschhorn syndrome.

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Pardo, Sherly; Blitman, Netta; Han, Bokyung; Cohen, Ninette; Edelmann, Lisa; Hirschhorn, Kurt

2008-01-15

We report on the clinical phenotype of an infant with a duplication of the terminal portion of the long arm of chromosome 3(q26.3-qter) and a deletion of the terminal portion of the short arm of chromosome 4(p16.3) with multiple hemangiomas and a hamartoma. Patients with deletions of distal 4p have the characteristic features of Wolf-Hirschhorn syndrome (WHS); whereas those with the distal duplication of 3q have a well recognized syndrome with some features resembling Cornelia-de Lange syndrome (CdLS). Neither of these recognized chromosomal anomalies has been reported previously to be associated with multiple hemangiomas or other vascular malformations. (c) 2007 Wiley-Liss, Inc.

Comparison of the efficiency of clomiphene citrate and letrozole in combination with metformin in moderately obese clomiphene citrate - resistant polycystic ovarian syndrome patients

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Bjelica Artur

2016-01-01

Full Text Available Introduction. Polycystic ovary syndrome is the most common endocrinopathy in women of reproductiveage. Therapy for those who want to get pregnant involves ovulation induction using clomiphene citrate, metformin, letrozole and gonadotropins. Objective. The aim of the study was to compare the efficacy of combinations of clomiphene citrate-metformin and letrozole-metformin in obese patients who are resistant to clomiphene citrate alone. Methods. The investigation was conducted as a retrospective study involving 60 moderately obese patients with polycystic ovary syndrome. Thirty-one of them received the clomiphene citrate-metformin, and 29 letrozole-metformin therapy. Stimulation was carried out for the procedures of intrauterine insemination (IUI. Results. The age of patients, duration of infertility, and body mass index in both groups were similar. There was statistically significant difference in the thickness of the endometrium in favor of the group having the letrozole-metformin therapy (8.9 ± 1.7 mm compared with the group receiving the clomiphene citrate-metformin treatment (6.3 ± 1.3 mm. The number of follicles was not statistically significantly different. Pregnancy rate in the first cycle of IUI in the clomiphene citrate group was 6.4%, and 17.2% in the letrozole group, which also was not statistically different. After the third IUI cycle, the pregnancy rate was significantly higher in the letrozole group (20.6%, while in the clomiphene citrate group it was (9.6%. Conclusion. This retrospective study demonstrated the advantages of the use of letrozole over clomiphene citrate in combination with metformin in moderately obese patients with polycystic ovary syndrome who are resistant to stimulation with clomiphene citrate alone.

Association of hyperandrogenemic and metabolic phenotype with carotid intima-media thickness in young women with polycystic ovary syndrome.

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Vryonidou, Andromachi; Papatheodorou, Athanasios; Tavridou, Anna; Terzi, Thomais; Loi, Vasiliki; Vatalas, Ioannis-Anastasios; Batakis, Nikolaos; Phenekos, Constantinos; Dionyssiou-Asteriou, Amalia

2005-05-01

Polycystic ovary syndrome (PCOS), a common endocrinopathy of women of reproductive age, is associated with the early appearance of multiple risk factors for cardiovascular disease, such as abdominal obesity, dyslipidemia, and diabetes mellitus. However, premature atherosclerosis of the carotid artery has not yet been demonstrated in young women with PCOS. Measurement of carotid intima-media thickness (IMT) is considered an easy and reliable index of subclinical atherosclerosis, which is predictive of subsequent myocardial infarction and stroke. To evaluate the cardiovascular risk of PCOS and the participation of the hyperandrogenemic and metabolic pattern, we measured carotid IMT by B-mode ultrasound as well as hormonal and several cardiovascular disease-associated parameters in 75 young women with PCOS and 55 healthy, age- and body mass index-matched women. The PCOS women had significantly increased carotid IMT (0.58 vs. 0.47 mm, P PCOS status, age, body mass index, and parental history of coronary heart disease were strong positive predictors of carotid IMT, whereas dehydroepiandrosterone sulfate was a strong negative predictor. In PCOS patients lower delta4-androstenedione and high-density lipoprotein-cholesterol levels were additionally strong positive predictors of carotid IMT, whereas in control women only total cholesterol was the additional positive predictor of carotid IMT. In conclusion, young women with PCOS have an early increase of cardiovascular risk factors and greater carotid IMT, both of which may be responsible for subclinical atherosclerosis. The hyperandrogenemic phenotype of the syndrome may attenuate the consequences of the dysmetabolic phenotype on the vascular wall.

Effects of High Intensity Interval Training and Strength Training on Metabolic, Cardiovascular and Hormonal Outcomes in Women with Polycystic Ovary Syndrome: A Pilot Study.

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Ida Almenning

Full Text Available Polycystic ovary syndrome is a common endocrinopathy in reproductive-age women, and associates with insulin resistance. Exercise is advocated in this disorder, but little knowledge exists on the optimal exercise regimes. We assessed the effects of high intensity interval training and strength training on metabolic, cardiovascular, and hormonal outcomes in women with polycystic ovary syndrome.Three-arm parallel randomized controlled trial. Thirty-one women with polycystic ovary syndrome (age 27.2 ± 5.5 years; body mass index 26.7 ± 6.0 kg/m2 were randomly assigned to high intensity interval training, strength training, or a control group. The exercise groups exercised three times weekly for 10 weeks.The main outcome measure was change in homeostatic assessment of insulin resistance (HOMA-IR. HOMA-IR improved significantly only after high intensity interval training, by -0.83 (95% confidence interval [CI], -1.45, -0.20, equal to 17%, with between-group difference (p = 0.014. After high intensity interval training, high-density lipoprotein cholesterol increased by 0.2 (95% CI, 0.02, 0.5 mmol/L, with between group difference (p = 0.04. Endothelial function, measured as flow-mediated dilatation of the brachial artery, increased significantly after high intensity interval training, by 2.0 (95% CI, 0.1, 4.0 %, between-group difference (p = 0.08. Fat percentage decreased significantly after both exercise regimes, without changes in body weight. After strength training, anti-Müllarian hormone was significantly reduced, by -14.8 (95% CI, -21.2, -8.4 pmol/L, between-group difference (p = 0.04. There were no significant changes in high-sensitivity C-reactive protein, adiponectin or leptin in any group.High intensity interval training for ten weeks improved insulin resistance, without weight loss, in women with polycystic ovary syndrome. Body composition improved significantly after both strength training and high intensity interval training. This pilot

Effects of High Intensity Interval Training and Strength Training on Metabolic, Cardiovascular and Hormonal Outcomes in Women with Polycystic Ovary Syndrome: A Pilot Study.

Science.gov (United States)

Almenning, Ida; Rieber-Mohn, Astrid; Lundgren, Kari Margrethe; Shetelig Løvvik, Tone; Garnæs, Kirsti Krohn; Moholdt, Trine

2015-01-01

Polycystic ovary syndrome is a common endocrinopathy in reproductive-age women, and associates with insulin resistance. Exercise is advocated in this disorder, but little knowledge exists on the optimal exercise regimes. We assessed the effects of high intensity interval training and strength training on metabolic, cardiovascular, and hormonal outcomes in women with polycystic ovary syndrome. Three-arm parallel randomized controlled trial. Thirty-one women with polycystic ovary syndrome (age 27.2 ± 5.5 years; body mass index 26.7 ± 6.0 kg/m2) were randomly assigned to high intensity interval training, strength training, or a control group. The exercise groups exercised three times weekly for 10 weeks. The main outcome measure was change in homeostatic assessment of insulin resistance (HOMA-IR). HOMA-IR improved significantly only after high intensity interval training, by -0.83 (95% confidence interval [CI], -1.45, -0.20), equal to 17%, with between-group difference (p = 0.014). After high intensity interval training, high-density lipoprotein cholesterol increased by 0.2 (95% CI, 0.02, 0.5) mmol/L, with between group difference (p = 0.04). Endothelial function, measured as flow-mediated dilatation of the brachial artery, increased significantly after high intensity interval training, by 2.0 (95% CI, 0.1, 4.0) %, between-group difference (p = 0.08). Fat percentage decreased significantly after both exercise regimes, without changes in body weight. After strength training, anti-Müllarian hormone was significantly reduced, by -14.8 (95% CI, -21.2, -8.4) pmol/L, between-group difference (p = 0.04). There were no significant changes in high-sensitivity C-reactive protein, adiponectin or leptin in any group. High intensity interval training for ten weeks improved insulin resistance, without weight loss, in women with polycystic ovary syndrome. Body composition improved significantly after both strength training and high intensity interval training. This pilot study

Vasoplegic syndrome: A challenge to anaesthetic management

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Amarjyoti Hazarika

2015-01-01

Full Text Available Perioperative hypotension is a well-recognized and relatively common problem during surgery. Vasoplegic syndrome is one such condition which is characterized by severe persistent hypotension with normal to high cardiac output and low systemic resistance. It is commonly seen in patients undergoing cardiac surgery on cardiopulmonary bypass. However, this syndrome has also been reported in off pump surgeries. Management of intraoperative hypotension may be challenging for an anaesthesiologist, if it does not respond or poorly respond to conventional therapy. We report the management of a hypertensive patient posted for spine surgery in prone position, who developed severe hypotension under anaesthesia refractory to treatment.

Progress on visual display terminal syndrome in children

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Xiao-Fang Ren

2013-12-01

Full Text Available With the rapid development of information era, video display terminal(VDThas entered people's lives, and the operator's health problems have been recognized, which is so called VDT syndrome. At the same time, the frequency of children's exposure to the VDT is higher and higher. Childhood is the critical period of visual development. As the data show that the excessive use of VDT can cause eye fatigue, myopia, dry eye, abnormal blinking, headache and other symptoms. In this article, we will talk about the symptoms, mechanism, and the prevention and treatment of children's VDT syndrome.

Dental management of PHACE syndrome under general anesthesia

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S Fernandes

2011-01-01

Full Text Available PHACE syndrome was first described by Dr. Ilonia Frieden and colleagues in 1996. It is an under-recognized rather than a very rare condition among patients with large facial hemangiomas. It is challenging as it has significant neurological, vascular and airway implications. Vascular malformations compromising cerebral blood flow predispose the patient to strokes and seizures. Subglottic hemangiomas, if present, could bleed during intubation. Meticulous neurological monitoring is mandatory in those undergoing repair of the great vessels. We describe the perioperative management of a child with PHACE syndrome subjected to dental treatment under general anesthesia.

The genetic basis of Lynch syndrome and its implications for clinical practice and risk management

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Cohen, Stephanie A; Leininger, Anna

2014-01-01

Lynch syndrome is the most common cause of hereditary colon cancer, and accounts for as much as 3% of all colon and endometrial cancers. The identification and management of individuals with Lynch syndrome have evolved over the past 20 years, yet the syndrome remains vastly underdiagnosed. It is important for clinicians to recognize individuals and families who are at risk in order to be able to manage them appropriately and reduce their morbidity and mortality from this condition. This review will touch on the history of Lynch syndrome, the current knowledge of genotype–phenotype correlations, the cancers associated with Lynch syndrome, and management of individuals who are gene carriers. PMID:25161364

Frank-ter Haar syndrome with unusual clinical features.

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

2009-01-01

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

A Case of Superior Mesenteric Artery Syndrome in a Healthy Active Duty Marine.

Science.gov (United States)

Thota, Darshan; Portouw, Steven J; Bruner, David I

2015-10-01

Superior mesenteric artery (SMA) syndrome is an uncommon disorder that can lead to small bowel obstructions or perforations. Typical populations include young females with anorexia. However, there have been a few reports of healthy males with acute vomiting reported to have SMA syndrome. Our case report highlights an active duty Marine who developed SMA syndrome and the importance of recognizing this disease given the severity in delay of diagnosis in population of young healthy active duty members. Reprint & Copyright © 2015 Association of Military Surgeons of the U.S.

[Cardiorenal syndrome: the role of new biochemical markers].

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Vernuccio, Federica; Grutta, Giuseppe; Ferrara, Filippo; Novo, Giuseppina; Novo, Salvatore

2012-12-01

Cardiorenal syndrome is a pathophysiological heart and kidney disorder, in which acute or chronic dysfunction of one organ induces a damage in the other. It's a syndrome more and more often encountered in clinical practice and this implies the need to recognize the syndrome through biochemical markers with a good sensitivity and specificity, since its earliest stages in order to optimize therapy. In addition to widely validated biomarkers, such as BNP, pro BNP, creatinine, GFR and cystatin C, other promising molecules are available, like NGAL (neutrophil gelatinase-associated lipocalin, KIM-1 (kidney injury molecule-1), MCP-1 (monocyte chemotactic peptide), Netrin-1, interleuchin 18 and NAG (N-acetyl-β-glucosa-minidase). The role of these emerging biomarkers is still not completely clarified: hence the need of new clinical trials.

Diabetes, insulin resistance, and metabolic syndrome in horses.

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Johnson, Philip J; Wiedmeyer, Charles E; LaCarrubba, Alison; Ganjam, V K; Messer, Nat T

2012-05-01

Analogous to the situation in human medicine, contemporary practices in horse management, which incorporate lengthy periods of physical inactivity coupled with provision of nutritional rations characterized by inappropriately high sugar and starch, have led to obesity being more commonly recognized by practitioners of equine veterinary practice. In many of these cases, obesity is associated with insulin resistance (IR) and glucose intolerance. An equine metabolic syndrome (MS) has been described that is similar to the human MS in that both IR and aspects of obesity represent cornerstones of its definition. Unlike its human counterpart, identification of the equine metabolic syndrome (EMS) portends greater risk for development of laminitis, a chronic, crippling affliction of the equine hoof. When severe, laminitis sometimes necessitates euthanasia. Unlike the human condition, the risk of developing type 2 diabetes mellitus and many other chronic conditions, for which the risk is recognized as increased in the face of MS, is less likely in horses. The equine veterinary literature has been replete with reports of scientific investigations regarding the epidemiology, pathophysiology, and treatment of EMS. © 2012 Diabetes Technology Society.

Young Adults Failure to Thrive Syndrome

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Warren C. Sanderson

2014-03-01

Full Text Available Many young working age adults in developed countries are failing to thrive in economic, demographic and social terms. Their failure to thrive is a relatively new phenomenon that has not been widely recognized, but it affects young adults in virtually all the more developed countries for which we have relevant data. Young adults nowadays are more often in poverty. They are leaving their parental homes at ever later ages and in some countries the frequency of psychological problems increased. The seriousness of failure to thrive syndrome is reflected in the relationship between relative economic conditions and increased suicide rates. The syndrome is important because young adults are at the prime ages for finding employment, establishing long-run career paths and building an economic basis for founding a family. Developing strategies to arrest the spread of failure to thrive syndrome among young adults, in order to keep them vibrant contributors to our societies, should be a priority for policy makers.

Dental and craniofacial characteristics in a patient with Dubowitz syndrome: a case report.

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Ballini, Andrea; Cantore, Stefania; Tullo, Domenica; Desiate, Apollonia

2011-01-27

Dubowitz syndrome is a very rare, autosomal recessive disease characterized by microcephaly, growth retardation, a high sloping forehead, facial asymmetry, blepharophimosis, sparse hair and eyebrows, low-set ears and mental retardation. Symptoms vary between patients, but other characteristics include a soft high-pitched voice, dental and craniofacial abnormalities, partial webbing of the fingers and toes, palate deformations, genital abnormalities, eczema, hyperactivity, preference for concrete over abstract thinking, language difficulties and an aversion to crowds. We describe the craniofacial and dental characteristics of a 12-year-old Caucasian Italian boy with both the typical and less common findings of Dubowitz syndrome. Diagnosis of Dubowitz syndrome is mainly based on the facial phenotype. Possible conditions for differential diagnosis include Bloom syndrome, Smith-Lemli-Opitz syndrome, and fetal alcohol syndrome. As there are few reports of this syndrome in the literature, we hope this case report will enable health professionals to recognize the phenotypic alterations of this syndrome, and allow early referral for the necessary multidisciplinary treatments.

Clinical consequences of iron overload in patients with myelodysplastic syndromes: the case for iron chelation therapy.

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Shammo, Jamile M; Komrokji, Rami S

2018-06-14

Patients with myelodysplastic syndromes (MDS) are at increased risk of iron overload due to ineffective erythropoiesis and chronic transfusion therapy. The clinical consequences of iron overload include cardiac and/or hepatic failure, endocrinopathies, and infection risk. Areas covered: Iron chelation therapy (ICT) can help remove excess iron and ultimately reduce the clinical consequences of iron overload. The authors reviewed recent (last five years) English-language articles from PubMed on the topic of iron overload-related complications and the use of ICT (primarily deferasirox) to improve outcomes in patients with MDS. Expert Commentary: While a benefit of ICT has been more firmly established in other transfusion-dependent conditions such as thalassemia, its role in reducing iron overload in MDS remains controversial due to the lack of prospective controlled data demonstrating a survival benefit. Orally administered chelation agents (e.g., deferasirox), are now available, and observational and/or retrospective data support a survival benefit of using ICT in MDS. The placebo-controlled TELESTO trial (NCT00940602) is currently examining the use of deferasirox in MDS patients with iron overload, and is evaluating specifically whether use of ICT to alleviate iron overload can also reduce iron overload-related complications in MDS and improve survival.

Churg-strauss syndrome: an update.

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Abril, Andy

2011-12-01

Churg-Strauss syndrome is an uncommon disease of unknown cause described initially by Churg and Strauss in 1951. Even though it was initially thought to be a variant of polyarteritis nodosa, its pathological, clinical, and laboratory features show that it is related to the small vessel vasculitides, and it is now classified as an antineutrophil cytoplasmic antibody-associated vasculitis. The presence of asthma, usually of adult onset, along with other allergic symptoms, peripheral and tissue eosinophilia, is specific to this disease. These features usually help clinicians distinguish it from other types of small vessel vasculitis and should alert clinicians about its presence. Two different clinical subtypes defined by the presence of antineutrophil cytoplasmic antibodies recently have been recognized. Recent advances in the treatment and pathophysiology of Churg-Strauss syndrome are reviewed in this article.

Intra-abdominal hypertension in fulminant Clostridium difficile infection--an under-recognized treatable complication.

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Oud, Lavi

2010-09-01

Clostridium difficile is the most common cause of nosocomial infectious diarrhea in adults, with recent reports of increased severity and case fatality. Intra-abdominal hypertension (IAH) and abdominal compartment syndrome (ACS) are increasingly recognized and treatable complications of severe illness in medical patients, and are independent predictors of mortality. Patients with severe Clostridium difficile infection (CDI) are at increased risk for IAH and ACS. However, ACS has been only rarely described in this population. We report a case of a 61 year-old morbidly obese, chronically ill, ventilator dependent patient, who developed fulminant CDI, including progressive colonic distension, acute renal failure and intra-abdominal fluid sequestration. Her clinical course worsened abruptly, with new shock, worsening hypoxic respiratory failure, increased peak airway pressures and reduced tidal volumes. Intra-abdominal pressure was 30 mm Hg. The patient was not considered a surgical candidate, was refractory to escalating non-surgical support, and died following withdrawal of life support. Although patients with fulminant CDI share many risk factors for IAH and ACS, these conditions were rarely reported in this population and are likely under recognized, as was the case with the present patient. Increased vigilance for IAH is needed in this at-risk population.

"RecognizeCane" : The new concept of a cane which recognizes the most common objects and safety clues.

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Scherlen, Anne-Catherine; Dumas, Jean Claude; Guedj, Benjamin; Vignot, Alexandre

2007-01-01

This paper introduces the new concept of an electronic cane for blind people. While some systems inform the subject only of the presence of the object and its relative distance, RecognizeCane is also able to recognize most common objects and environment clues to increase the safety and confidence of the navigation process. The originality of RecognizeCane is the use of simple sensors, such as infrared, brilliance or water sensors to inform the subject of the presence, for example, of a stairway, a water puddle, a zebra crossing or a trash can. This cane does not use an embedded vision system. RecognizeCane is equipped with several sensors and microprocessors to collect sensor data and extract the desired information about the close environment by means of a dynamic analysis of output signals.

Coexistence of Antiphospholipid Syndrome and Heparin-Induced Thrombocytopenia in a Patient with Recurrent Venous Thromboembolism

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Samuel Adediran

2017-01-01

Full Text Available Heparin-induced thrombocytopenia (HIT is a prothrombotic adverse drug reaction in which heparin forms complexes with platelet factor 4 forming neoantigens that are recognized by autoantibodies. Antiphospholipid syndrome (APS is similar to HIT in that it is mediated by autoantibodies that are also prothrombotic. We present a case of rare coexistence of antiphospholipid antibody syndrome and heparin-induced thrombocytopenia.

Refeeding syndrome in adults with celiac crisis: a case report.

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Hammami, Sonia; Aref, Houda Lazreg; Khalfa, Messouda; Kochtalli, Ines; Hammami, Mohamed

2018-01-31

Refeeding syndrome is a rare and life-threatening pathology with polyvisceral manifestations occurring in severely malnourished patients. It is rarely described in adults with celiac disease. We report the case of a 28-year-old Tunisian woman followed up for celiac disease, who did not adhere to the gluten-free diet. She presented to our hospital with celiac crisis manifested by severe diarrhea, and metabolic and electrolyte disturbances. The treatment of electrolyte abnormalities, hydration, and nutritional support was marked by the occurrence on the fifth day of refeeding syndrome with psychomotor agitation followed by respiratory distress and a state of cardiogenic shock. Refeeding syndrome is still under-recognized. It should be systematically prevented for high-risk patients. Nutritional support in patients with celiac crisis should be monitored carefully since the risk of refeeding syndrome is very high with a poor prognosis.

Insulin resistance and polycystic ovary syndrome.

Science.gov (United States)

Galluzzo, Aldo; Amato, Marco Calogero; Giordano, Carla

2008-09-01

Polycystic ovary syndrome (PCOS) is one of the most common endocrine disorders in humans, affecting approximately 7-8% of women of reproductive age. Despite the criteria adopted, PCOS is considered to be a predominantly hyperandrogenetic syndrome and the evaluation of metabolic parameters and insulin sensitivity is not mandatory. Most women with PCOS also exhibit features of the metabolic syndrome, including insulin resistance, obesity and dyslipidaemia. While the association with type 2 diabetes is well established, whether the incidence of cardiovascular disease is increased in women with PCOS remains unclear. Acknowledging the strong impact of insulin-resistance in the genesis of PCOS could be helpful not only to make the diagnosis more robust, but also for conferring better cardiovascular risk prevention. Several current studies support a strong recommendation that women with PCOS should undergo comprehensive evaluation for the metabolic syndrome and recognized cardiovascular risk factors, and receive appropriate treatment as needed. Lifestyle modifications remain the first-line therapy for all obese women with PCOS. However, many of these women do not lose weight easily. Insulin-sensitizing drugs are discussed as a promising and unique therapeutic option for the chronic treatment of PCOS.

An update on renal involvement in hemophagocytic syndrome (macrophage activation syndrome).

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Esmaili, Haydarali; Mostafidi, Elmira; Mehramuz, Bahareh; Ardalan, Mohammadreza; Mohajel-Shoja, Mohammadali

2016-01-01

Hemophagocytic syndrome (HPS) is mainly characterized by massive infiltration of bone marrow by activated macrophages and often presents with pancytopenia. Thrombotic microangiopathy (TMA) is also present with thrombocytopenia and renal involvement. Both conditions could coexist with each other and complicate the condition. Directory of Open Access Journals (DOAJ), EMBASE, Google Scholar, PubMed, EBSCO, and Web of Science with keywords relevant to; Hemophagocytic syndrome, macrophage activation syndrome, interferon-gamma and thrombotic microangiopathy, have been searched. Viral infection, rheumatologic disease and malignancies are the main underlying causes for secondary HPS. calcineurin inhibitors and viral infections are also the main underlying causes of TMA in transplant recipients. In this review, we discussed a 39-year-old male who presented with pancytopenia and renal allograft dysfunction. With the diagnosis of HPS induced TMA his renal condition and pancytopenia improved after receiving intravenous immunoglobulin (IVIG) and plasmapheresis therapy. HPS is an increasingly recognized disorder in the realm of different medical specialties. Renal involvement complicates the clinical picture of the disease, and this condition even is more complex in renal transplant recipients. We should consider the possibility of HPS in any renal transplant recipient with pancytopenia and allograft dysfunction. The combination of HPS with TMA future increases the complexity of the situation.

Scapulothoracic Anatomy and Snapping Scapula Syndrome

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Rachel M. Frank

2013-01-01

Full Text Available The scapulothoracic articulation is a sliding junction between the deep aspect of the scapula and thoracic rib cage at the levels of ribs 2 through 7. Motion at this articulation is dynamically stabilized by a variety of muscular attachments, allowing for controlled positioning of the glenoid to assist in glenohumeral joint function. A thorough understanding of the complex anatomic relationships, including the various muscles, and bursa, is critical to the evaluation of patients presenting with scapulothoracic disorders. The snapping scapula syndrome is caused by either osseous lesions or scapulothoracic bursitis and can be difficult to recognize and treat. The purpose of this review is to discuss the anatomy of the scapulothoracic articulation with an emphasis on the pathology associated with snapping scapula syndrome.

The Danish National Multiple Myeloma Registry

DEFF Research Database (Denmark)

Gimsing, Peter; Holmström, Morten Orebo; Klausen, Tobias Wirenfelt

2016-01-01

AIM: The Danish National Multiple Myeloma Registry (DMMR) is a population-based clinical quality database established in January 2005. The primary aim of the database is to ensure that diagnosis and treatment of plasma cell dyscrasia are of uniform quality throughout the country. Another aim...... diagnosed patients with multiple myeloma (MM), smoldering MM, solitary plasmacytomas, and plasma cell leukemia in Denmark are registered annually; ~350 patients. Amyloid light-chain amyloidosis, POEMS syndrome (polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes syndrome......), monoclonal gammopathy of undetermined significance and monoclonal gammopathy of undetermined significance with polyneuropathy have been registered since 2014. MAIN VARIABLES: The main registered variables at diagnosis are patient demographics, baseline disease characteristics, myeloma-defining events...

Personalized medicine for individuals with Down syndrome.

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McCabe, Linda L; McCabe, Edward R B

2011-01-01

As the cost of whole genome analysis decreases, we have the opportunity to explore the interactions of various gene changes in an individual that lead to their particular phenotype. This will provide the ability to move from the epidemiologic study of groups, in which, the individuals are treated collectively and homogenously, to personalized medicine, and a model in which the individual is recognized and treated as a distinct entity. We will be applying personalized medicine to individuals with Down syndrome in order to understand and develop biomarkers for increased risk of co-morbidities. Personalized medicine will change the "culture of intractability" of Down syndrome. Copyright © 2011 Elsevier Inc. All rights reserved.

Roentgenographic observation of the myofascial pain dysfunction syndrome

International Nuclear Information System (INIS)

Ahn, Hyung Kyu

1975-01-01

The author has observed 64 films from M.P.D. syndrome cases taken in Dept. of Oral Radiology, the Infirmary of Den tal College, Seoul National University in 1974, and obtained the following results: 1. In M.P.D. syndrome, the ratio between the female and the male were 2:1. 2. The prevalent age was aged 20,30,10, and 40 in decreasing order. 3. The incidence was 21.8% in the left side, 29% in the right, and 21% was bilaterally, which show the right most frequent. 4. The roentgenograms revealed variable findings in each case, but there were not recognized any significant differences.

Roentgenographic observation of the myofascial pain dysfunction syndrome

Energy Technology Data Exchange (ETDEWEB)

Ahn, Hyung Kyu [Department of Radiology, College of Dentistry, Seoul National University, Seoul (Korea, Republic of)

1975-11-15

The author has observed 64 films from M.P.D. syndrome cases taken in Dept. of Oral Radiology, the Infirmary of Den tal College, Seoul National University in 1974, and obtained the following results: 1. In M.P.D. syndrome, the ratio between the female and the male were 2:1. 2. The prevalent age was aged 20,30,10, and 40 in decreasing order. 3. The incidence was 21.8% in the left side, 29% in the right, and 21% was bilaterally, which show the right most frequent. 4. The roentgenograms revealed variable findings in each case, but there were not recognized any significant differences.

CUBOID SYNDROME: A REVIEW OF THE LITERATURE

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Stephen M. Patterson

2006-12-01

Full Text Available The purpose of this review was to inform all medical health care professionals about cuboid syndrome, which has been described as difficult to recognize and is commonly misdiagnosed, by explaining the etiology of this syndrome, its clinical diagnosis in relation to differential diagnoses, commonly administered treatment techniques, and patient outcomes. A comprehensive review of the relevant literature was conducted with MEDLINE, EBSCO, and PubMed (1960 - Present using the key words cuboid, cuboid syndrome, foot anatomy, tarsal bones, manual therapy, and manipulation. Medical professionals must be aware that any lateral foot and ankle pain may be the result of cuboid syndrome. Once properly diagnosed, cuboid syndrome responds exceptionally well to conservative treatment involving specific cuboid manipulation techniques. Other methods of conservative treatment including therapeutic modalities, therapeutic exercises, padding, and low dye taping techniques are used as adjuncts in the treatment of this syndrome. Immediately after the manipulation is performed, the patient may note a decrease or a complete cessation of their symptoms. Occasionally, if the patient has had symptoms for a longer duration, several manipulations may be warranted throughout the course of time. Due to the fact radiographic imaging is of little value, the diagnosis is largely based on the patient's history and a collection of signs and symptoms associated with the condition. Additionally, an understanding of the etiology behind this syndrome is essential, aiding the clinician in the diagnosis and treatment of this syndrome. After the correct diagnosis is made and a proper treatment regimen is utilized, the prognosis is excellent

Recognizing Bedside Events Using Thermal and Ultrasonic Readings

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Danielsen Asbjørn

2017-06-01

Full Text Available Falls in homes of the elderly, in residential care facilities and in hospitals commonly occur in close proximity to the bed. Most approaches for recognizing falls use cameras, which challenge privacy, or sensor devices attached to the bed or the body to recognize bedside events and bedside falls. We use data collected from a ceiling mounted 80 × 60 thermal array combined with an ultrasonic sensor device. This approach makes it possible to monitor activity while preserving privacy in a non-intrusive manner. We evaluate three different approaches towards recognizing location and posture of an individual. Bedside events are recognized using a 10-second floating image rule/filter-based approach, recognizing bedside falls with 98.62% accuracy. Bed-entry and exit events are recognized with 98.66% and 96.73% accuracy, respectively.

Acromegaly and McCune-Albright Syndrome

Science.gov (United States)

Salenave, Sylvie; Boyce, Alison M.; Collins, Michael T.

2014-01-01

Background: McCune-Albright syndrome (MAS) includes the triad of poly/monostotic fibrous dysplasia, café-au-lait spots, and hyperfunctioning endocrinopathies. Acromegaly affects around 20% of MAS patients. Aims: The objective was to review all reported cases of acromegaly associated with MAS. Methods: All studies and case reports of acromegaly in patients with MAS were systematically sought in the world literature up to January 2013. We also included new data (from three unreported cases) and updated data on 23 previously reported patients from our two centers. Results: We reviewed the cases of 112 patients (65 males). Mean age at diagnosis of acromegaly was 24.4 years (range, 3–64). Among the 40 pediatric patients, 23 (57%) had precocious puberty. GH/IGF-1 excess was suggested by accelerated growth in 85% of pediatric cases. Acromegaly was almost always associated with skull base fibrous dysplasia. Modern imaging techniques (computed tomography or magnetic resonance imaging) revealed an adenoma in 54% of the patients (macroadenoma in more than two-thirds). Median GH levels and mean IGF-1 SD score at diagnosis were 57 μg/L (2.8 to 291 μg/L) and 8 (2.3 to 24), respectively. Hyperprolactinemia was present in 81% (mean, 149 μg/L; range, 21–600). Pituitary surgery, performed in 25 cases, very rarely cured the GH/IGF-1 excess. Somatostatin analogs improved GH/IGF-1 levels in most patients but achieved control of acromegaly in only 17 (30%) of 56 patients. Pegvisomant achieved normal IGF-1 levels in 10 of 13 cases. Conclusion: Acromegaly, which is present in 20–30% of patients with MAS, raises particular diagnostic and therapeutic issues. PMID:24517150

Joint hypermobility syndrome and related pain

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Nilay Sahin

2016-06-01

Full Text Available Hypermobility is defined as an abnormally increased range of motion of a joint resulting from the excessive laxity of the soft tissues. This paper is focused on this commonly forgotten cause of several morbidities. The etiology of hypermobility is not very well known. One decade ago, joint hypermobility syndrome was considered as a benign condition, but now it is recognized as a significant contributor to chronic musculoskeletal pain, besides impacting on other organs. Patients with joint hypermobility syndrome often have diffuse, chronic complaints that are inconsistent with the musculoskeletal system. Chronic pain may cause loss of proprioception and so increased sensitivity to microtrauma, premature osteoarthritis de- velopment, soft tissue problems, psychosocial disorders, and neurophysiological deficiencies. Osteoarthritis, pes planus, mechanical low back pain, and soft tissue rheumatisms are frequent musculoskeletal findings as well as subluxations, thoracic outlet syndrome, rectal and uterine prolapses, hernias, and stress incontinence. Joint hypermobility syndrome's treatment is not easy, and nonsteroidal anti-inflammatory drugs are not usually effective or adequate. Proprioceptive and strengthening exercises have been reported to have supportive and therapeutic effects, but we have limited data on this issue. Joint hypermobility syndrome must be accepted as a multisystem connective tissue disorder rather than just joint laxities. As a result; clinicians must be aware of complexities of connective tissue disorders and comorbidities. [Arch Clin Exp Surg 2016; 5(2.000: 105-112

Dental and craniofacial characteristics in a patient with Dubowitz syndrome: a case report

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Tullo Domenica

2011-01-01

Full Text Available Abstract Introduction Dubowitz syndrome is a very rare, autosomal recessive disease characterized by microcephaly, growth retardation, a high sloping forehead, facial asymmetry, blepharophimosis, sparse hair and eyebrows, low-set ears and mental retardation. Symptoms vary between patients, but other characteristics include a soft high-pitched voice, dental and craniofacial abnormalities, partial webbing of the fingers and toes, palate deformations, genital abnormalities, eczema, hyperactivity, preference for concrete over abstract thinking, language difficulties and an aversion to crowds. Case presentation We describe the craniofacial and dental characteristics of a 12-year-old Caucasian Italian boy with both the typical and less common findings of Dubowitz syndrome. Conclusion Diagnosis of Dubowitz syndrome is mainly based on the facial phenotype. Possible conditions for differential diagnosis include Bloom syndrome, Smith-Lemli-Opitz syndrome, and fetal alcohol syndrome. As there are few reports of this syndrome in the literature, we hope this case report will enable health professionals to recognize the phenotypic alterations of this syndrome, and allow early referral for the necessary multidisciplinary treatments.

Clinical presentation of different severities of hemorrhagic fever with renal syndrome: How to recognize it

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Laušević Mirjana

2012-01-01

Full Text Available Background/Aim. Besides viral serotype, HLA haplotype and cytokine genes polymorphism are associated with clinical presentation of hemorrhagic fever with renal syndrome. Since these analyses are unavailable in routine clinical practice, the aim of this study was to assess clinical, laboratory and radiographic findings associated with clinical presentation of disease severity. Methods. A total of 30 patients (27 men and 3 women, average age 40 ± 14.9 years, treated for hemorrhagic fever with renal syndrome from January 1, 1999 to December 31, 2009 in Clinical Center of Serbia, were included in the study. Nine patients (30% had mild, 14 (46.7% moderate and 7 (23.3% severe form of the disease; 24 (80% recovered, 6 (20% died in the acute phase of the illness, and 19 patients (63.3% required hemodialysis. Results. The average titer of antiviral antibodies in patients infected with Belgrade serotype virus were significantly higher in those with severe clinical presentation. Hypotension, anuria, macrohaematuria, pulmonary infiltration, pleural effusion, hepatomegalia and positive meningeal signs were more frequent in the patients with severe form of the disease. Statistically significant differences between groups with mild, moderate and severe clinical picture were found in serum total protein, albumin, calcium, glutamate pyruvate and glutamate oxaloacetate transaminase on admittance; serum creatinine and phosphorus concentration on day 14 and day 21; serum sodium and calciums on day 14; hemoglobine concentration on day 21. A statistically significant correlation was found between clinical presentation of the disease severity and platelet count, white blood cell count, hemoglobine concentration, serum calcium and serum transaminases on admittance. Multivariate analysis identified variables` combinations associated with clinical presentation of the disease. Conclusion. Our study confirmed that we can distinguish patients who will manifest different

Experience of severe desaturation during anesthetic induction period in an obese adult patient with Prader-Willi syndrome -A case report-.

Science.gov (United States)

Choi, Joon Woo; Kim, Eun-Ju; Min, Byung Woo; Ban, Jong Seouk; Lee, Sang Gon; Lee, Ji-Hyang

2012-02-01

Prader-Willi syndrome is characterized by infantile hypotonia, childhood-onset obesity, short stature, mental retardation, hyperphagia, hypogonadism. After infantile hypotonia phase, patient is prone to morbid obesity due to hyperphagia. Complications associated with morbid obesity are recognized as the main risk factors for death the lifespan of patients with Prader-Willi syndrome. We experienced desaturation and bronchospasm during arteriovenous fistula surgery in an obese adult with Prader-Willi syndrome.

FDA Recognized Consensus Standards

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U.S. Department of Health & Human Services — This database consists of those national and international standards recognized by FDA which manufacturers can declare conformity to and is part of the information...

Brown adipose tissue activation by rutin ameliorates polycystic ovary syndrome in rat.

Science.gov (United States)

Hu, Tao; Yuan, Xiaoxue; Ye, Rongcai; Zhou, Huiqiao; Lin, Jun; Zhang, Chuanhai; Zhang, Hanlin; Wei, Gang; Dong, Meng; Huang, Yuanyuan; Lim, Wonchung; Liu, Qingsong; Lee, Hyuek Jong; Jin, Wanzhu

2017-09-01

Polycystic ovary syndrome (PCOS) is a complex endocrinopathy that is characterized by anovulation, hyperandrogenism and polycystic ovary. However, there is a lack of effective treatment for PCOS at present because the pathologic cause of PCOS has not been elucidated. Although it has been known that brown adipose tissue transplantation ameliorates PCOS by activating endogenous BAT, BAT transplantation is not applicable in clinic. Therefore, BAT activation with natural compound could be an effective treatment strategy for PCOS patients. Here, we found that 3 weeks of rutin (a novel compound for BAT activation) treatment increased BAT activation, thereby it improved thermogenesis and systemic insulin sensitivity in dehydroepiandrosterone (DHEA)-induced PCOS rat. In addition, the expression levels of ovarian steroidogenic enzymes such as P450C17, aromatase, 3β-HSD, 17β-HSD and STAR were up-regulated in rutin-treated PCOS rat. Furthermore, acyclicity and the serum level of luteinizing hormone were normalized, and a large number of mature ovulated follicle with a reduction of cystic formation were observed in PCOS rat after rutin treatment. Finally, rutin treatment surprisingly improved fertility and birth defect in PCOS rat. Collectively, our results indicate that rutin treatment significantly improves systemic insulin resistance and ovarian malfunction in PCOS, and our findings in this study provide a novel therapeutic option for the treatment of PCOS by activating BAT with rutin. Copyright © 2017 Elsevier Inc. All rights reserved.

Headache and Pain in Guillain-Barré Syndrome.

Science.gov (United States)

Farmakidis, Constantine; Inan, Seniha; Milstein, Mark; Herskovitz, Steven

2015-08-01

While moderate and severe back or extremity pain is frequent in Guillain-Barré syndrome (GBS), headache appears to be uncommon. Most of the reports of headache in GBS place it in the context of the posterior reversible encephalopathy syndrome (PRES) which is increasingly recognized as a likely dysautonomia-related GBS complication. There are also a few reports of headache in the setting of increased CSF pressure and papilledema and in association with the Miller Fisher GBS variant. In comparison, back and extremity pain is highly prevalent. Aching muscle pain and neuropathic pain are the two most common of several pain types. Pain may be a heralding feature and has been described in patients as long as 2 years after disease onset. Pain management is a major axis of treatment in GBS. Gabapentin is a reasonable first-line choice, and opioid medications can be added for more severe pain but there are few clinical trials to inform specific recommendations. While the understanding of pain pathophysiology in GBS is incomplete, its prevalence and clinical impact are increasingly recognized and studied. Pain should be considered a cardinal manifestation of GBS along with acute, mostly symmetric weakness and diminished reflexes.

Genetic predisposition syndromes: when should they be considered in the work-up of MDS?

Science.gov (United States)

Babushok, Daria V; Bessler, Monica

2015-03-01

Myelodysplastic syndromes (MDS) are clonal hematopoietic disorders characterized by cytopenias, ineffective hematopoiesis, myelodysplasia, and an increased risk of acute myeloid leukemia (AML). While sporadic MDS is primarily a disease of the elderly, MDS in children and young and middle-aged adults is frequently associated with underlying genetic predisposition syndromes. In addition to the classic hereditary bone marrow failure syndromes (BMFS) such as Fanconi Anemia and Dyskeratosis Congenita, in recent years there has been an increased awareness of non-syndromic familial MDS/AML predisposition syndromes such as those caused by mutations in GATA2, RUNX1, CEBPA, and SRP72 genes. Here, we will discuss the importance of recognizing an underlying genetic predisposition syndrome a patient with MDS, will review clinical scenarios when genetic predisposition should be considered, and will provide a practical overview of the common BMFS and familial MDS/AML syndromes which may be encountered in adult patients with MDS. Copyright © 2014 Elsevier Ltd. All rights reserved.

[Hypogonadism caused by Gorlin-Goltz syndrome].

Science.gov (United States)

Marín Romero, Olivia; Hernández Marín, Imelda; Ayala Ruiz, Aquiles R

2006-09-01

The Gorlin-Goltz syndrome is a dominant autosomic disorder characterized by cancerigenic predisposition and multiple development defects, apparently without reproductive compromise. The complex is characterized by four primary symptoms, which include nevoid basal cell epitheliomas malignantly prone, keratocystic jaw, skeletal abnormalities and intracranial calcifications. Apparently, reproductive problems reported had been rarely associated with this syndrome. We present the case of a patient with clinic stigmatae of Gorlin-Goltz syndrome, who had a characteristic progress as seen in the literature; he was the fifth product of a 43 year-old female (father was 48 years old); who at birth disclosed right eye microftalmy, bilateral cryptorchidism surgically treated at age of six. At puberty, an odontogenic cyst of the jaw was noted and enucleated. He also showed facial nevi in neck, thorax and abdomen. When he was admitted being 14 years old in our clinic, he had recurrent bilateral cryptorchidism, sexual immatturity and infertility. It is important to take into consideration Gorlin-Goltz stigmatae in cases of hypogonadism in order to recognize a further genetic influence.

Corpus callosum and neglect syndrome: Clinical findings after meningioma removal and anatomical review

Directory of Open Access Journals (Sweden)

David Gomes

2017-01-01

Full Text Available Two types of neglect are described: hemispatial and motivational neglect syndromes. Neglect syndrome is a neurophysiologic condition characterized by a malfunction in one hemisphere of the brain, resulting in contralateral hemispatial neglect in the absence of sensory loss and the right parietal lobe lesion being the most common anatomical site leading to it. In motivational neglect, the less emotional input is considered from the neglected side where anterior cingulate cortex harbors the most frequent lesions. Nevertheless, there are reports of injuries in the corpus callosum (CC causing hemispatial neglect syndrome, particularly located in the splenium. It is essential for a neurosurgeon to recognize this clinical syndrome as it can be either a primary manifestation of neurosurgical pathology (tumor, vascular lesion or as a postoperative iatrogenic clinical finding. The authors report a postoperative hemispatial neglect syndrome after a falcotentorial meningioma removal that recovered 10 months after surgery and performs a clinical, anatomical, and histological review centered in CC as key agent in neglect syndrome.

Three Cases of Palatal Tics and Gilles De La Tourette Syndrome

NARCIS (Netherlands)

Rizzo, Renata; Cath, Danielle; Pavone, Piero; Tijssen, Marina; Robertson, Mary M.

Five patients with palatal tics and Gilles de la Tourette syndrome have been previously reported. Little is known about the characteristics of palatal tics given that there are so few reports. On one hand, palatal tics may be rare. Alternatively, they may be less well recognized than repetitive eye

Dengue infection associated hemophagocytic syndrome: Therapeutic interventions and outcome.

Science.gov (United States)

Wan Jamaludin, Wan Fariza; Periyasamy, Petrick; Wan Mat, Wan Rahiza; Abdul Wahid, S Fadilah

2015-08-01

Infection associated hemophagocytic syndrome is increasingly recognized as a potentially fatal complication of dengue fever. It should be suspected with prolonged fever beyond seven days associated with hepatosplenomegaly, hyperferritinemia, worsening cytopenias and development of multiorgan dysfunction. Surge of similar pro-inflammatory cytokines observed in dengue associated hemophagocytic syndrome and multiorgan dysfunction may indicate they are part of related inflammatory spectrum. A proportion of patients recovered with supportive therapy, however most required interventions with corticosteroids, intravenous immunoglobulin or chemotherapy. We report three cases of dengue associated IAHS with good outcome following early recognition and treatment with dexamethasone and intravenous immunoglobulin. Copyright © 2015 Elsevier B.V. All rights reserved.

46 CFR 42.05-60 - Recognized classification society.

Science.gov (United States)

2010-10-01

... 46 Shipping 2 2010-10-01 2010-10-01 false Recognized classification society. 42.05-60 Section 42... FOREIGN VOYAGES BY SEA Definition of Terms Used in This Subchapter § 42.05-60 Recognized classification society. The term recognized classification society means the American Bureau of Shipping or other...

46 CFR 90.10-35 - Recognized classification society.

Science.gov (United States)

2010-10-01

... 46 Shipping 4 2010-10-01 2010-10-01 false Recognized classification society. 90.10-35 Section 90... VESSELS GENERAL PROVISIONS Definition of Terms Used in This Subchapter § 90.10-35 Recognized classification society. The term recognized classification society means the American Bureau of Shipping or other...

Dhat syndrome: a systematic review.

Science.gov (United States)

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

2013-01-01

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

A Rare Manifestation of Uveitis-glaucoma-hyphema Syndrome.

Science.gov (United States)

Sousa, David Cordeiro; Leal, Inês; Faria, Mun Yueh; Pinto, Luís Abegão

2016-01-01

To report a case of a patient who developed uveitis-glaucoma-hyphema (UGH) syndrome after an uneventful cataract surgery and to discuss risk factors, diagnostic challenges, management options, and clinical implications. Uveitis-glaucoma-hyphema syndrome is a rare but potentially serious cataract surgery complication. Clinical manifestations include increased intraocular pressure (IOP), anterior chamber inflammation, and recurrent hyphema or microhyphema. Uveitis-glaucoma-hyphema Plus syndrome also includes accompanying vitreous hemorrhage. Although classically associated with rigid anterior chamber intraocular lenses (lOLs), cases of malpositioning and subluxated posterior chamber lOLs have also been described as possible triggers. We report a case of a 70-year-old Caucasian man who developed UGH Plus syndrome after an uneventful cataract surgery with an lOL implanted in the capsular bag. During postoperative follow-up, persistent intraocular inflammation, increased IOP, hyphema, and vitreous hemorrhage were consistent with this diagnosis. Slit-lamp examination demonstrated progressive localized iris atrophy, compatible with chafing of the posterior iris by the IOL haptic as the trigger for UGH syndrome. A pars plana vitrectomy was performed and a retropupillary intraocular lens was implanted. No further complications occurred during follow-up. Given the increasing prevalence of single-piece lOLs implanted in the capsular bag, it is important to recognize UGH syndrome as a rare but potentially serious complication. How to cite this article: Sousa DC, Leal I, Faria MY, Pinto LA. A Rare Manifestation of Uveitis-glaucoma-hyphema Syndrome. J Curr Glaucoma Pract 2016;10(2):76-78.

Increase in acrolein-conjugated immunoglobulins in saliva from patients with primary Sjögren's syndrome.

Science.gov (United States)

Hirose, Tadao; Saiki, Ryotaro; Uemura, Takeshi; Suzuki, Takehiro; Dohmae, Naoshi; Ito, Satoshi; Takahashi, Hoyu; Ishii, Itsuko; Toida, Toshihiko; Kashiwagi, Keiko; Igarashi, Kazuei

2015-10-23

We previously reported that the level of protein-conjugated acrolein (PC-Acro), a marker of cell or tissue damage, was increased in saliva from patients with primary Sjögren's syndrome (pSS), and that the level of PC-Acro was well correlated with the severity of pSS. Acrolein-conjugated immunoglobulins were measured in saliva from pSS patients. The activities of autoantibodies recognizing Sjögren's syndrome SSA (Ro) and SSB (La) proteins in saliva from pSS patients were approximately 3- to 5-fold higher than those from control subjects. We also found that autoantibody activities recognizing SSA (Ro) and SSB (La) proteins increased after acrolein treatment of saliva from control subjects. When an antibody against human serum albumin was treated with acrolein, the ability to recognize albumin was reduced but the ability to recognize other proteins was increased. Twenty-four and eleven kinds of acrolein-conjugated amino acids were found at the variable and constant regions of peptides, respectively, obtained from the immunoglobulins in saliva from pSS patients. The altered recognition patterns of immunoglobulins due to acrolein conjugation are at least partially involved in autoimmune diseases. Copyright © 2015 Elsevier B.V. All rights reserved.

[Prevention and management of refeeding syndrome in patients with chronic critical illness].

Science.gov (United States)

Chen, Jun; Fan, Chaogang

2016-07-01

Nutritional support is an important means to treat the patients with chronic critical illness for commonly associated malnutrition. Refeeding syndrome is a serious complication during the process, mainly manifested as severe electrolyte with hypophosphataemia being the most common. Refeeding syndrome is not uncommon but it is often ignored. In our future clinical work, we need to recognize this chinical situation and use preventative and treatment measures. According to NICE clinical nutrition guideline, we discussed the risk factors, treatment methods and preventive measures of refeeding syndrome in patients with chronic critical illness. We argued that for patients with high risk refeeding syndrome, nutritional support treatment should be initially low calorie and slowly increased to complete requirement. Circulation capacity should be recovered, fluid balance must be closely monitored and supplement of vitamins, microelement, electrolytes should be noted. After the emergence of refeeding syndrome, we should reduce or even stop the calorie intake, give an active treatment for electrolyte disorder, provide vitamin B, and maintain the functions of multiple organs.

Isolated pons involvement in Posterior Reversible Encephalopathy Syndrome: Case report and review of the literature

Directory of Open Access Journals (Sweden)

Mariangela Ferrara

2017-03-01

Conclusions: Though isolated infratentorial involvement in PRES recognizes several causes, hypertension, which is a common feature in Turner syndrome, would have played a key role in our case with solely pons MRI T2-hyperintensity.

Adropin Levels in Polycystic Ovary Syndrome Patients

Directory of Open Access Journals (Sweden)

Hacer Sen

2017-01-01

Full Text Available Aim: Polycystic ovary syndrome (PCOS is one of the most commonly observed endocrinopathies in women of reproductive age. Women with PCOS are said to have increased classic risk factors for cardiovascular disease, hypertension, dyslipidemia, diabetes, and obesity, in addition to non-classic risk factors such as an increase in C-reactive protein (CRP, homocysteine, and tumor necrosis factor-%u03B1. Adropin is a protein thought to play a role in maintaining energy homeostasis and insulin response. The aim of our study is to investigate the relationship between levels of adropin and insulin resistance in PCOS patients with insulin resistance and an increased risk of diabetes.Material and Method: Fifty-seven female patients (30 patients with PCOS and 27 healthy control subjects were enrolled in this study. All patient%u2019s body mass index and insulin resistance were calculated. The adropin levels were measured using commercial kits based on a competitive plasma EIA (enzyme immunoassay method. Results: The adropin levels in the patient group were 10.79 ng/L, while the value was 13.02 ng/L in the control group, and the difference was statistically significant (p=0.04. There was a significant negative correlation between the adropin levels and the insulin, aspartate aminotransferase (AST, triglyseride (TG, and homeostasis model assessment of insulin resistance (HOMA-IR levels (p=0.03, p=0.03, p=0.04, and p=0.02, respectively. Discussion: In our study, the adropin level which is associated with insulin resistance, was found to be decreased in patients with PCOS. We think that it would be valuable to conduct new studies for the evaluation of adropin related clinical conditions leading to insulin resistance in patients with PCOS.

Social Cognition in Williams Syndrome: Face Tuning.

Science.gov (United States)

Pavlova, Marina A; Heiz, Julie; Sokolov, Alexander N; Barisnikov, Koviljka

2016-01-01

Many neurological, neurodevelopmental, neuropsychiatric, and psychosomatic disorders are characterized by impairments in visual social cognition, body language reading, and facial assessment of a social counterpart. Yet a wealth of research indicates that individuals with Williams syndrome exhibit remarkable concern for social stimuli and face fascination. Here individuals with Williams syndrome were presented with a set of Face-n-Food images composed of food ingredients and in different degree resembling a face (slightly bordering on the Giuseppe Arcimboldo style). The primary advantage of these images is that single components do not explicitly trigger face-specific processing, whereas in face images commonly used for investigating face perception (such as photographs or depictions), the mere occurrence of typical cues already implicates face presence. In a spontaneous recognition task, participants were shown a set of images in a predetermined order from the least to most resembling a face. Strikingly, individuals with Williams syndrome exhibited profound deficits in recognition of the Face-n-Food images as a face: they did not report seeing a face on the images, which typically developing controls effortlessly recognized as a face, and gave overall fewer face responses. This suggests atypical face tuning in Williams syndrome. The outcome is discussed in the light of a general pattern of social cognition in Williams syndrome and brain mechanisms underpinning face processing.

Post partum posteriort reversibeltencefalopati-syndrom

DEFF Research Database (Denmark)

Aaen, Anne Albers; Jeppesen, Jørgen; Obaid, Hayder

2015-01-01

and treatment is important for the reversibility of the condition. In this case report we emphasize the importance of blood pressure control in a post-partum woman, who had a rather complicated pregnancy. The symptoms of PRES were not recognized immediately because of failure to use and acknowledge a blood......Posterior reversible encephalopathy syndrome (PRES) is a complex clinical condition with vasogenic subcortical oedema caused by hypertension. Oedema is often seen on magnetic resonance imaging. The wide clinical spectrum ranges from headaches to vision loss and even death. Early diagnosis...

Reexpression of a developmentally regulated antigen in Down syndrome and Alzheimer disease

International Nuclear Information System (INIS)

Wolozin, B.; Scicutella, A.; Davies, P.

1988-01-01

ALZ-50 is a monoclonal antibody that recognizes a protein of apparent molecular mass 68 kilodaltons (A68). The protein is present in the brains of patients with Alzheimer disease but is not detectable in normal adult brain tissue. The authors report that ALZ-50-reactive neurons are found in normal fetal and neonatal human brain and in brain tissue from neonatal individuals with Down syndrome. Reactive neurons decrease sharply in number after age 2 and reappear in older individuals with Down syndrome and in patients with Alzheimer disease

Differential diagnosis of adrenocorticotropic hormone-independent Cushing syndrome: role of adrenal venous sampling.

Science.gov (United States)

Martins, Raquel G; Agrawal, Reshma; Berney, Daniel M; Reznek, Rodney; Matson, Matthew; Grossman, Ashley B; Druce, Maralyn R

2012-01-01

To outline the potential role for adrenal venous sampling in the diagnosis and management of adrenocorticotropic hormone (ACTH)-independent Cushing syndrome (CS). We present a case description and discuss the management of a 59-year-old woman with an 8-year history of weight gain, centripetal obesity, a round plethoric face, skin thinning, easy bruising, hirsutism, and progressive muscle weakness. The patient reported a prior personal history of asthma, type 2 diabetes mellitus, hypertension, dyslipidemia, and bilateral leg ulcers, but she denied having any personal or family history of endocrinopathy and was not taking any corticosteroid medication. Elevated midnight serum cortisol, failure to suppress cortisol levels with a low-dose dexamethasone suppression test, and undetectable plasma ACTH all indicated ACTH-independent CS. Additional investigations including dynamic tests and adrenal imaging were supported by adrenal venous sampling in order to make a diagnosis and formulate a management plan. She was ultimately noted to have bilateral functioning adrenal nodules (adenoma and adenolipoma) and underwent successful bilateral laparoscopic adrenalectomy, with postoperative glucocorticoid and mineralocorticoid replacement. Adrenal venous sampling may be an important step in the differential diagnosis of CS and localization of the source of cortisol excess. It may distinguish pheochromocytoma or benign nonfunctioning adrenal nodules from cortisol-secreting adenomas and may avoid unnecessary bilateral adrenalectomy. It can also ensure that the correct operation is completed, if required, and thus avoid the increased morbidity and mortality associated with repeated surgical interventions.

Pain Part 8: Burning Mouth Syndrome.

Science.gov (United States)

Beneng, Kiran; Renton, Tara

2016-04-01

Burning mouth syndrome (BMS) is a rare but impactful condition affecting mainly post-menopausal women resulting in constant pain and significant difficulty with eating, drinking and daily function. The aetiology of BMS remains an enigma. Recent evidence suggests it likely to be neuropathic in origin, the cause of which remains unknown. There is no cure for this condition and the unfortunate patients remain managed on a variety of neuropathic pain medication, salivary substitutes and other non-medical interventions that help the patient 'get through the day'. Some simple strategies can assist both clinician and patient to manage this debilitating condition. CPD/Clinical Relevance: The dental team will recognize patients presenting with burning mouth syndrome. They are difficult patients to manage and are often referred to secondary care and, ultimately, depend on their general medical practitioners for pain management.

Atypical B12 Deficiency with Nonresolving Paraesthesia

Directory of Open Access Journals (Sweden)

S. Haider

2013-01-01

Full Text Available Vitamin B12 deficiency can present with various hematological, gastrointestinal and neurological manifestations. We report a case of elderly female who presented with neuropathy and vitamin B12 deficiency where the final work-up revealed polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes (POEMS. This case suggests that, although POEMS syndrome is a rare entity, it can present with vitamin-B12 deficiency and thus specific work up for early diagnosis of POEMS should be considered in patients with B12 deficiency unresponsive to therapy.

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

Science.gov (United States)

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

2013-07-01

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

Compartment syndrome after total knee arthroplasty: regarding a clinical case

Directory of Open Access Journals (Sweden)

Ana Alexandra da Costa Pinheiro

2015-08-01

Full Text Available ABSTRACT Although compartment syndrome is a rare complication of total knee arthroplasty, it is one of the most devastating complications. It is defined as a situation of increased pressure within a closed osteofascial space that impairs the circulation and the functioning of the tissues inside this space, thereby leading to ischemia and tissue dysfunction. Here, a clinical case of a patient who was followed up in orthopedic outpatient consultations due to right gonarthrosis is presented. The patient had a history of arthroscopic meniscectomy and presented knee flexion of 10° before the operation, which consisted of total arthroplasty of the right knee. The operation seemed to be free from intercurrences, but the patient evolved with compartment syndrome of the ipsilateral leg after the operation. Since compartment syndrome is a true surgical emergency, early recognition and treatment of this condition through fasciotomy is crucial in order to avoid amputation, limb dysfunction, kidney failure and death. However, it may be difficult to make the diagnosis and cases may not be recognized if the cause of compartment syndrome is unusual or if the patient is under epidural analgesia and/or peripheral nerve block, which thus camouflages the main warning sign, i.e. disproportional pain. In addition, edema of the limb that underwent the intervention is common after total knee arthroplasty operations. This study presents a review of the literature and signals that the possible rarity of cases is probably due to failure to recognize this condition in a timely manner and to placing these patients in other diagnostic groups that are less likely, such as neuropraxia caused by using a tourniquet or peripheral nerve injury.

Status of Homocysteine in Polycystic Ovary Syndrome (PCOS)

OpenAIRE

Maleedhu, Priyanka; M., Vijayabhaskar; S.S.B., Sharma; Kodumuri, Praveen K; Devi D., Vasundhara

2014-01-01

Background: Polycystic ovary syndrome (PCOS) is the most common endocrine disease in women of reproductive age and is estimated to affect 5-10 % of the population. Women with PCOS have a clustering of cardiovascular risk factors, such as obesity, dyslipidemia, impaired glucose tolerance and hypertension. Homocysteine has been recognized recently as a risk factor for cardiovascular diseases. Preliminary investigations suggest that high sensitivity C-reactive protein, homocysteine and adiponect...

The obliterative angiopathy of the digital arteries in the vibration syndrome

International Nuclear Information System (INIS)

Leyhe, A.; Klinikum Lahnberge, Marburg

1985-01-01

Twenty-nine patients with a clinically verified vibration syndrome after many years of work with chain saws underwent angiography of the hand and forearm. In 62 (99%) of the finger arteries investigated, occlusions, kinking and (more rarely) stenoses were found, preferentially on the long fingers II, III, IV and V (with decreasing incidence). Since the vibration syndrome is recognized as an occupational disease, angiographic evaluation of the degree of severity of the vascular damage appears to be of great significance in terms of industrial and insurance law, besides providing non-invasive proof of the vasospastic component of the clinical picture. (orig.) [de

Sleep disturbances in voltage-gated potassium channel antibody syndrome.

Science.gov (United States)

Barone, Daniel A; Krieger, Ana C

2016-05-01

Voltage-gated potassium channels (VGKCs) are a family of membrane proteins responsible for controlling cell membrane potential. The presence of antibodies (Ab) against neuronal VGKC complexes aids in the diagnosis of idiopathic and paraneoplastic autoimmune neurologic disorders. The diagnosis of VGKC Ab-associated encephalopathy (VCKC Ab syndrome) should be suspected in patients with subacute onset of disorientation, confusion, and memory loss in the presence of seizures or a movement disorder. VGKC Ab syndrome may present with sleep-related symptoms, and the purpose of this communication is to alert sleep and neurology clinicians of this still-under-recognized condition. In this case, we are presenting the VGKC Ab syndrome which improved after treatment with solumedrol. The prompt recognition and treatment of this condition may prevent the morbidity associated with cerebral atrophy and the mortality associated with intractable seizures and electrolyte disturbances. Copyright © 2016. Published by Elsevier B.V.

Anthropometric characteristics and dietary pattern of women with polycystic ovary syndrome

Directory of Open Access Journals (Sweden)

Afsane Ahmadi

2013-01-01

Full Text Available Objective: Polycystic ovary syndrome (PCOS is the most common endocrine disorder among women of reproductive age.PCOS is considered to be not only a reproductive endocrinopathy, but also a metabolic disorder.The objective of the present study was to characterize the anthropometric and dietary profile of women with PCOS and to compare it with that of healthy age-matched women. Design: In this case-control study, 65 women with PCOS served as cases. The control group consisted of 65 age-matched healthy women. For each participant, demographic, anthropometric and dietary intake data were gathered and compared between the two groups. Results: There was no significant difference between the mean of the body mass index of the two groups, but the mean of waist circumference was significantly higher in the PCOS group, than the control group ( P = 0.016. Compared to the normal weight PCOS patients, a significantly higher percentage of overweight patients had hirsutism ( P = 0.009. In dietary analysis, women with PCOS consumed more calories and more fat than healthy women ( P = 0.001 and P = 0.019, respectively. Conclusion: It is concluded that in PCOS patients, android obesity is a common feature and this abdominal adiposity may be related to the syndrome′s complications. PCOS symptoms were more severe in overweight patients than the normal weight. Regarding the dietary pattern, it was indicated that patients with PCOS consume more calories and more fat in their diets and this might have been correlated to their disease.

26 CFR 1.1374-2 - Net recognized built-in gain.

Science.gov (United States)

2010-04-01

... 26 Internal Revenue 11 2010-04-01 2010-04-01 true Net recognized built-in gain. 1.1374-2 Section 1...-in gain. (a) In general. An S corporation's net recognized built-in gain for any taxable year is the... considering only its recognized built-in gain, recognized built-in loss, and recognized built-in gain...

Primary retroperitoneal teratoma and crossed fused renal ectopia with turner's syndrome -a case report-

Energy Technology Data Exchange (ETDEWEB)

Kim, Yun Jung; Hong, Ki Ung [St. Francisco General Hospital, New York (United States)

1988-02-15

In 1938, Turner described a clinical entity in phenotype females characterized by sexual infantilism, congenital webbed neck and cubitus valgus. After then, the occurrence of renal anomalies in patients with Turner's syndrome has been recognized. Associated crossed fused renal ectopia is very rare. Primary retroperitoneal teratoma is also rare and usually during childhood. The authors report a case of primary retroperitoneal teratoma and crossed fused renal ectopia with Turner's syndrome (mosaic type). The clinical, pathological and radiographical findings are reviewed.

Primary retroperitoneal teratoma and crossed fused renal ectopia with turner's syndrome -a case report-

International Nuclear Information System (INIS)

Kim, Yun Jung; Hong, Ki Ung

1988-01-01

In 1938, Turner described a clinical entity in phenotype females characterized by sexual infantilism, congenital webbed neck and cubitus valgus. After then, the occurrence of renal anomalies in patients with Turner's syndrome has been recognized. Associated crossed fused renal ectopia is very rare. Primary retroperitoneal teratoma is also rare and usually during childhood. The authors report a case of primary retroperitoneal teratoma and crossed fused renal ectopia with Turner's syndrome (mosaic type). The clinical, pathological and radiographical findings are reviewed

Factitious Cushing's syndrome masquerading as Cushing's disease.

Science.gov (United States)

Thynne, Tilenka; White, Graham H; Burt, Morton G

2014-03-01

Factitious Cushing's syndrome is extremely rare. The diagnosis is challenging as cross-reactivity of synthetic corticosteroids or their metabolites in immunoassay measurements of plasma or urinary cortisol can make distinguishing between true and factitious Cushing's syndrome difficult. Adrenocorticotropin (ACTH) is usually suppressed in factitious Cushing's syndrome. A 54-year-old woman presented with clinical and biochemical features of Cushing's syndrome and an unsuppressed ACTH concentration. She denied recent exogenous corticosteroid use. Initial investigations revealed a markedly elevated urinary free cortisol, mildly elevated midnight salivary cortisol and normal morning cortisol concentration. Plasma ACTH was not suppressed at 13 ng/l (RR 10-60 ng/l). A pituitary MRI was normal, but inferior petrosal sinus sampling (IPSS) revealed a post corticotrophin releasing hormone ACTH ratio >20:1 in the left petrosal sinus. Ketoconazole therapy amplified discordance between the urinary free and morning plasma cortisol concentrations. Further investigation of this discordance using high-pressure liquid chromatography tandem mass spectrometry (HPLC-MS/MS) revealed a urinary free cortisol excretion of only 20 nmol/24 h, but prednisolone excretion of 16,200 nmol/24 h. Factitious Cushing's syndrome can mimic endogenous ACTH-dependent hypercortisolism during initial investigations and IPSS. This case highlights the importance of (i) recognizing the significance of discordant results; (ii) using an ACTH assay capable of reliably differentiating ACTH-dependent from ACTH-independent Cushing's syndrome; and (iii) appreciating that IPSS is only useful to localize the source of ACTH in confirmed ACTH-dependent Cushing's syndrome. In this case, measurement of corticosteroids by HPLC-MS/MS was essential in reaching the correct diagnosis. © 2013 John Wiley & Sons Ltd.

[The concept and definition of locomotive syndrome in a super-aged society].

Science.gov (United States)

Nakamura, Kozo; Yoshimura, Noriko; Akune, Toru; Ogata, Toru; Tanaka, Sakae

2014-10-01

The population of elderly individuals who need nursing care is rapidly increasing in Japan. Locomotive syndrome involves a decrease in mobility due to locomotive organ dysfunction, and increases risk for dependency on nursing care service. Because gait speed and chair stand time are correlated with such risks, patients with locomotive syndrome are assessed using brief methods such as the two-step test, which involves dividing the maximum stride length by the height of the patient, and the stand-up test, which involves standing on one or both legs at different heights. One leg standing and squatting are recommended as beneficial locomotive home exercises. Locomotive syndrome has been recognized widely in Japan, and included in the National Health Promotion Movement (2013-2022).

Serotonin syndrome associated with sertraline use: case report

Directory of Open Access Journals (Sweden)

Bárbara Werner Griciunas

2017-06-01

Full Text Available Case report of serotonin syndrome in patient who initiated the use of sertraline at a dose greater than twice the recommended for the treatment of psychotic depression. The patient presented contracture of the limbs, puzzled look, mutism and blood pressure 230x110 mmHg. The syndrome is increasingly common, although it is not well recognized. Many medications can cause it and this possibility should be considered in patients taking serotonergic drugs presenting autonomic or mental disorders and neurological symptoms. The findings of clonus, oculogyric crisis, hyperreflexia and hypertonicity should lead to the medication review. Treatment focuses on interruption of causative agents, treatment of a possible hyperthermia and use of benzodiazepines to decrease hypertonus and neurological excitability.

Central Nervous System (CNS Disease Triggering Takotsubo Syndrome

Directory of Open Access Journals (Sweden)

Josef Finsterer

2016-01-01

Full Text Available Takotsubo syndrome (TTS is usually triggered by psychological or physical stress. One of the many physical sources of stress are central nervous system (CNS disorders. CNS disorders most frequently triggering TTS include subarachnoid bleeding, epilepsy, ischemic stroke, migraine, and intracerebral bleeding. More rare CNS-triggers of TTS include posterior reversible encephalopathy syndrome (PRES, amyotrophic lateral sclerosis, encephalitis, or traumatic brain or spinal cord injury. TTS triggered by any of the CNS disorders needs to be recognized since adequate treatment of TTS may improve the general outcome from the CNS disorder as well. Neurologists need to be aware of TTS as a complication of specific CNS disorders but TTS may be triggered also by CNS disorders so far not recognised as causes of TTS.

Congenital Rubella Syndrome - A Major Review and Update

Directory of Open Access Journals (Sweden)

Nure Ishrat Nazme

2015-07-01

Full Text Available Rubella is a major public health problem which is usually a mild rash illness in children and adults. However, it has devastating systemic consequences when rubella virus crosses the placental barrier and infects fetal tissue resulting in congenital rubella syndrome (CRS. Congenital rubella syndrome is an under-recognized public health problem in Bangladesh and the burden of the disease weighs heavily on patients and society; therefore, routine vaccination and other preventative strategies are strongly encouraged. Extensive surveillance studies should be conducted to eliminate CRS from our country. In this review, we will characterize the epidemiology of CRS; describe the patho-phyisiology, clinical features and laboratory testing for the disease, and discuss measures needed for prevention of rubella and CRS.

Simultaneous Combined Myositis, Inflammatory Polyneuropathy, and Overlap Myasthenic Syndrome

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Stéphane Mathis

2016-01-01

Full Text Available Immune-mediated neuromuscular disorders include pathologies of the peripheral nervous system, neuromuscular junction, and muscles. If overlap syndromes (or the association of almost two autoimmune disorders are recognized, the simultaneous occurrence of several autoimmune neuromuscular disorders is rare. We describe two patients presenting the simultaneous occurrence of inflammatory neuropathy, myositis, and myasthenia gravis (with positive acetylcholine receptor antibodies. For each patient, we carried out a pathological analysis (nerve and muscle and an electrophysiological study (and follow-up. To our knowledge, this is the first description of such a triple immune-mediated neuromuscular syndrome. We compared our observations with a few other cases of simultaneous diagnosis of two inflammatory neuromuscular disorders.

Three Cases of Palatal Tics and Gilles De La Tourette Syndrome.

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Rizzo, Renata; Cath, Danielle; Pavone, Piero; Tijssen, Marina; Robertson, Mary M

2015-08-01

Five patients with palatal tics and Gilles de la Tourette syndrome have been previously reported. Little is known about the characteristics of palatal tics given that there are so few reports. On one hand, palatal tics may be rare. Alternatively, they may be less well recognized than repetitive eye blinking or sniffing, which are both obvious and, therefore, more often reported. We describe 3 patients with palatal tics and Gilles de la Tourette syndrome. We also review the 5 patients reported in the literature and explore whether there are characteristic features among this group of 8 cases. The 8 patients had the following features: (1) Personal history of other multiple motor/vocal tics, (2) the presence of typical Gilles de la Tourette syndrome comorbidities, (3) positive family history of tics and/or Gilles de la Tourette syndrome comorbidities, (4) the presence of audible "ear clicks," (5) younger age at onset (2 years). We suggest that palatal tics are underreported. © The Author(s) 2014.

Metabolic syndrome in children: current issues and South Asian perspective.

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Misra, Anoop; Khurana, Lokesh; Vikram, Naval K; Goel, Ashish; Wasir, Jasjeet S

2007-01-01

The objective of this review is to discuss definition, determinants, and management issues of the metabolic syndrome in children with a focus on South Asians. The literature search was done using the PubMed search engine (National Library of Medicine, Bethesda, MD, USA). Manual searches for other important references and medical databases were also done. There is a need for an integrated definition of the metabolic syndrome in children and adolescents, taking cognizance of the ethnic-specific variations. Obesity and body fat patterning are important determinants of insulin resistance and the metabolic syndrome in children and ethnic variations in these parameters are seen. Excess body fat and thicker truncal subcutaneous fat are important predisposing factors for development of insulin resistance in South Asian children. Because the metabolic syndrome tracks into adulthood, its manifestations need to be recognized early for prevention of diabetes and coronary heart disease. Therapeutic lifestyle changes, maintenance of high levels of physical activity and normal weight are most important strategies; pharmacologic therapy for individual components of the metabolic syndrome is occasionally needed. The metabolic syndrome in children is an important clinical marker of diabetes and coronary heart disease in adults. In view of the rapid increase in the metabolic syndrome in most populations, high-risk screening and effective public-intervention educational programs are urgently needed.

Cardiorenal syndrome

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Sabry Omar

2013-01-01

Full Text Available Cardiovascular disease is the leading cause of death in patients with chronic kidney disease.  Heart failure may lead to acute kidney injury and vice versa. Chronic kidney disease may affect the clinical outcomes in patients with cardiovascular disorders. Renal impairment with any degree of albuminuria has been increasingly recognized as an independent risk factor for cardiovascular events and heart failure hospitalizations, while chronic heart failure may cause chronic kidney disease. The bidirectional nature of these disorders contributes to the complexity and the composite definitions of cardiorenal syndromes. However, the most important clinical trials in heart failure tend to exclude patients with significant renal dysfunction. The mechanisms whereby renal insufficiency worsens the outcome in heart failure are not known, and several pathways could contribute to the ‘‘vicious heart/kidney circle.’’ Traditionally, renal impairment has been attributed to the renal hypoperfusion due to reduced cardiac output and decreased systemic pressure. The hypovolemia leads to sympathetic activity, increased renin-angiotensin aldosterone pathway, and arginine-vasopressin release. These mechanisms cause fluid and sodium retention, peripheral vasoconstriction, and volume overload. Therapy to improve renal dysfunction, reduce neurohormonal activation and ameliorate renal blood flow could lead to a reduction in mortality and hospitalization in patients with cardiorenal syndrome.

Mental Health Concerns in Williams Syndrome: Intervention Considerations and Illustrations from Case Examples

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Phillips, Kristin D.; Klein-Tasman, Bonita P.

2009-01-01

The refinement of the Williams syndrome phenotype has frequently included the study of behavioral and temperamental features common to individuals with this disorder. Within this line of research, the importance of evaluating incidence of psychopathology has been increasingly recognized, with studies consistently identifying an increased risk for…

BURNOUT SYNDROME AMONG EDUCATORS IN PRE-SCHOOL INSTITUTIONS.

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Hozo, Endica Radic; Sucic, Goran; Zaja, Ivan

2015-12-01

The occurrence of burnout syndrome (BS) has been recognized in many professions (pilots, firefighters, police officers, doctors…) that during their work are subjected to high levels of stress. For educators in preschool institutions stress level is very high thus creating the possibility of developing BS. For this research is selected preschool institution - kindergarten "Radost" (Joy) in Split, in which by use of questionnaires (modified scale by Freudenberger and modified scales by Girdin, Everly and Dusek) during 2014 among educators (100 respondents) is conducted a survey regarding the frequency of burnout syndrome. According to questionnaires by Girdin, Everly and Dusek there is no statistically significant difference between the number of educators who feel good and those that are under significant stress (χ2=1.04; p=0.307). According to questionnaire by Freudenberg educators are classified into 3 categories and distribution of educators by the groups is almost uniform (χ2=2.76; p=0.250), which means that one third of a teacher is in good condition, a third is in the risk area for burn-out syndrome, while one third are candidates for development of this syndrome. Comparing a teacher in good condition compared to other (at risk and those who are candidates for the burn-out syndrome) is up to 1.5 times higher in those who are at risk and the candidates for development of this syndrome than in others (χ2=4.5; p=0.033). The occurrence of burnout syndrome is very high for the group of educators (half of the educators!) in pre-school institutions which should be taken into account by the institutions management. For this purpose, it is necessary to organize regular medical check-ups with particular reference to burnout syndrome with signs of the syndrome to prevent its further development.

BURNOUT SYNDROME AMONG EDUCATORS IN PRE-SCHOOL INSTITUTIONS

Science.gov (United States)

Hozo, Endica Radic; Sucic, Goran; Zaja, Ivan

2015-01-01

Introduction: The occurrence of burnout syndrome (BS) has been recognized in many professions (pilots, firefighters, police officers, doctors…) that during their work are subjected to high levels of stress. For educators in preschool institutions stress level is very high thus creating the possibility of developing BS. Material and methods: For this research is selected preschool institution – kindergarten „Radost” (Joy) in Split, in which by use of questionnaires (modified scale by Freudenberger and modified scales by Girdin, Everly and Dusek) during 2014 among educators (100 respondents) is conducted a survey regarding the frequency of burnout syndrome. Research results: According to questionnaires by Girdin, Everly and Dusek there is no statistically significant difference between the number of educators who feel good and those that are under significant stress (χ2=1.04; p=0.307). According to questionnaire by Freudenberg educators are classified into 3 categories and distribution of educators by the groups is almost uniform (χ2=2.76; p=0.250), which means that one third of a teacher is in good condition, a third is in the risk area for burn-out syndrome, while one third are candidates for development of this syndrome. Comparing a teacher in good condition compared to other (at risk and those who are candidates for the burn-out syndrome) is up to 1.5 times higher in those who are at risk and the candidates for development of this syndrome than in others (χ2=4.5; p=0.033). Conclusion: The occurrence of burnout syndrome is very high for the group of educators (half of the educators!) in pre-school institutions which should be taken into account by the institutions management. For this purpose, it is necessary to organize regular medical check-ups with particular reference to burnout syndrome with signs of the syndrome to prevent its further development. PMID:26889099

Cachexia Syndrome, anorexia patient

International Nuclear Information System (INIS)

Roldán, G.; Musé, I.

2004-01-01

Introduction: Two thirds of patients (ptes) cancer present slimming recognized a negative prognostic factor. Anorexia cachexia syndrome (SCA) results from the interaction of multiple factors and causes death of 22% of these patients. Nutritional support produces a moderate recovery weight without affecting the underlying metabolic disorders. Objectives: Conduct a review of current knowledge of the underlying pathophysiology and management the cachexia-anorexia syndrome in cancer patients. Designing indications possible policy interventions in the management of these patients. Method: Performed an a literature review on SCA. Conclusions: We identify patients at risk for early implementation of non-pharmacological measures preventive. The control side effects to treatment oncospecific with particular attention to the need for antiemetics, laxatives / antidiarrheal control dental and proper pain management is fundamental. Keep track enteral is a priority. In those with swallowing disorders or dysphagia, nasogastric feeding tube should be considered early. Indications for gastrostomy / jejunostomy and total parenteral nutrition (TPN) are very limited. The NPT is a complementary treatment maneuver a temporary and reversible complication, in order to prevent deterioration

Relationship between Serum Leptin, Ghrelin and Dietary Macronutrients in Women with Polycystic Ovary Syndrome.

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Pourghassem Gargari, Bahram; Houjeghani, Shiva; Farzadi, Laya; Houjeghani, Sheyda; Safaeiyan, Abdolrasoul

2015-01-01

Polycystic ovary syndrome (PCOS) is the most common endocrinopathy in women. It may involve an impairment in physiologic regulation of leptin and ghrelin. There is limited, controversial data on the relation of dietary components with leptin and ghrelin in PCOS, so the current study has been conducted to explore the effects of different macronutrients on serum levels of leptin and ghrelin in PCOS and healthy subjects. In this case-control study, we randomly choose 30 PCOS pa- tients and 30 healthy age and body mass index (BMI) matched controls. Intake of macronutrients [protein, total fat, saturated, monounsaturated and polyunsaturated fatty acids (PUFA), carbohydrate, dietary fiber] and energy were assessed using 3-day, 24-hour food recall and food frequency questionnaires (FFQ). Fasting hormonal status was measured for each participant. PCOS women had higher levels of serum leptin, insulin, testosterone, and luteinizing hormone (LH), whereas sex hormone-binding globulin (SHBG) was lower compared to healthy women. There was no significant difference in mean ghrelin concentrations between the groups. Among PCOS women, independent of BMI and total energy intake, we observed an inverse association between leptin concentration and total dietary fat (β=-0.16, Pmacronutrients in PCOS and healthy participants. Certain habitual dietary components such as fat and SFA may decrease serum leptin, whereas ghrelin is not influenced by these in PCOS women. More studies are needed to better clarify the effects of dietary macronutrients on serum leptin and ghrelin.

Female Gender Scheme is Disturbed by Polycystic Ovary Syndrome: A Qualitative Study From Iran.

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Nasiri Amiri, Fatemeh; Ramezani Tehrani, Fahimeh; Simbar, Masoumeh; Mohammadpour Thamtan, Reza Ali; Shiva, Niloofar

2014-02-01

Polycystic ovary syndrome (PCOS) is the most common endocrinopathy affecting up to one in every five women of reproductive age. The majority of researches on PCOS focus on its biomedical aspects, often overlooking and neglecting women's own perceptions and experiences. This study aimed to explore women's perception and experiences that influence their personal gender role. This research is a qualitative study by conventional content analysis. Semi-structured interviews were conducted with 23 reproductive aged women with PCOS, recruited from the reproductive endocrinology research center. , in-depth interviews were continued to reach data saturation. The study was carried out at the reproductive endocrinology research center of Shahid Beheshti University in Tehran All the interviews were recorded and transcribed, and qualitative content analysis of the data was conducted manually. Four themes were identified. Content analysis of the interviews revealed these women mainly perceived themselves with lack of physical attractiveness, loss of womanhood, interruption of sexual role and disruption of fertility potential, feelings were related to symptoms e.g. 'excess' hair; absent or disrupted menstrual cycle, obesity and infertility commonly experienced by women with PCOS. Women with PCOS are challenged in their perceptions of themselves as "feminine" because of their hairy appearance, irregular menses and lack of fertility and this influences their gender roles. Medical practitioners must understand how PCOS precisely affects women's roles and initiate management aimed at reconstructing their "womanhood", along with their medical treatment.

Phantom breast syndrome

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Ramesh

2009-01-01

Full Text Available Phantom breast syndrome is a type of condition in which patients have a sensation of residual breast tissue and can include both non-painful sensations as well as phantom breast pain. The incidence varies in different studies, ranging from approximately 30% to as high as 80% of patients after mastectomy. It seriously affects quality of life through the combined impact of physical disability and emotional distress. The breast cancer incidence rate in India as well as Western countries has risen in recent years while survival rates have improved; this has effectively increased the number of women for whom post-treatment quality of life is important. In this context, chronic pain following treatment for breast cancer surgery is a significantly under-recognized and under-treated problem. Various types of chronic neuropathic pain may arise following breast cancer surgery due to surgical trauma. The cause of these syndromes is damage to various nerves during surgery. There are a number of assumed factors causing or perpetuating persistent neuropathic pain after breast cancer surgery. Most well-established risk factors for developing phantom breast pain and other related neuropathic pain syndromes are severe acute postoperative pain and greater postoperative use of analgesics. Based upon current evidence, the goals of prophylactic strategies could first target optimal peri-operative pain control and minimizing damage to nerves during surgery. There is some evidence that chronic pain and sensory abnormalities do decrease over time. The main group of oral medications studied includes anti-depressants, anticonvulsants, opioids, N-methyl-D-asparate receptor antagonists, mexilitine, topical lidocaine, cannabinoids, topical capsaicin and glysine antagonists. Neuromodulation techniques such as motor cortex stimulation, spinal cord stimulation, and intrathecal drug therapies have been used to treat various neuropathic pain syndromes.

Milk alkali syndrome induced by calcitriol and calcium bicarbonate in a patient with hypoparathyroidism

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Eda Altun

2013-01-01

Full Text Available The milk-alkali syndrome (MAS was a common cause of hypercalcemia, metabolic alkalosis, and renal failure in the early 20 th century. This syndrome was first recognized secondary to treatment of peptic ulcer disease with milk and absorbable alkali. Its incidence fell after the introduction of H2-blocker and proton pump inhibitor. Persistent ingestion of calcium carbonate and vitamin D caused MAS. We report a patient presenting with a triad of hypercalcemia, metabolic alkalosis and renal failure secondary to treatment of idiopathic hypoparathyroidism.

Brief Report: Insight into Illness and Social Attributional Style in Asperger's Syndrome

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Didehbani, Nyaz; Shad, Mujeeb U.; Kandalaft, Michelle R.; Allen, Tandra T.; Tamminga, Carol A.; Krawczyk, Daniel C.; Chapman, Sandra B.

2012-01-01

A number of psychiatric illnesses have been recognized to have some level of insight deficits, including developmental disorders, such as Asperger's Syndrome (ASP). However insight into illness has not been empirically investigated in ASP and little research has examined how individuals with ASP view their deficits. This is the first study to…

Pathology and Treatment of Traumatic Cervical Spine Syndrome: Whiplash Injury

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Nobuhiro Tanaka

2018-01-01

Full Text Available Traumatic cervical syndrome comprises the various symptoms that occur as a result of external force such as that of a traffic accident. In 1995, the Quebec Task Force on whiplash-associated disorders (WAD formulated the Quebec classification, with accompanying clinical practice guidelines. These guidelines were in accordance with the stated clinical isolated or combined symptoms of the syndrome: neck pain, headaches, dizziness, numbness of head or face, eye pain, vision loss, double vision, tinnitus, hearing loss, nausea, and numbness and/or weakness of extremities. In recent years, cerebrospinal fluid hypovolemia or fibromyalgia has been recognized as a major notable cause of a variety of symptoms, although many clinical questions remain regarding the pathology of this syndrome. Therefore, its diagnosis and treatment should be conducted extremely carefully. While the Quebec classification and its guidelines are very useful for the normalization and standardization of symptoms of traumatic cervical syndrome, in the future, we would like to see the emergence of new guidelines that better address the diversity of this disease.

Equine metabolic syndrome in Colombian creole horse: case report

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C.A. Castillo

Full Text Available ABSTRACT The equine metabolic syndrome is a condition that can be recognized because of obesity, insulin resistance and laminitis. Genetic factors could play a role in the occurrence of this syndrome. Certain breeds such as ponies (including the South American creole horses have a lower sensibility to insulin and a higher prevalence of hyperinsulinemia. The environment and management conditions, such as overfeeding and lack of exercise are factors that bring a propensity for obesity. The adipose tissue works as an endocrine organ producing hormones (adipokines or adipocytokines that affect the horse´s metabolism. The objective of this report is to describe the first case report of a Colombian creole mare with a metabolic syndrome, diagnosed by means of the combined test of glucose-insulin and clinical signs. Early diagnosis of this entity and an adequate treatment are useful for improving the life and the zootechnical conditions of the patient.

Emotion Recognition in Adolescents with Down Syndrome: A Nonverbal Approach

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Régis Pochon

2017-05-01

Full Text Available Several studies have reported that persons with Down syndrome (DS have difficulties recognizing emotions; however, there is insufficient research to prove that a deficit of emotional knowledge exists in DS. The aim of this study was to evaluate the recognition of emotional facial expressions without making use of emotional vocabulary, given the language problems known to be associated with this syndrome. The ability to recognize six emotions was assessed in 24 adolescents with DS. Their performance was compared to that of 24 typically developing children with the same nonverbal-developmental age, as assessed by Raven’s Progressive Matrices. Analysis of the results revealed no global difference; only marginal differences in the recognition of different emotions appeared. Study of the developmental trajectories revealed a developmental difference: the nonverbal reasoning level assessed by Raven’s matrices did not predict success on the experimental tasks in the DS group, contrary to the typically developing group. These results do not corroborate the hypothesis that there is an emotional knowledge deficit in DS and emphasize the importance of using dynamic, strictly nonverbal tasks in populations with language disorders.

Next Generation Sequencing Approach in a Prenatal Case of Cardio-Facio-Cutaneus Syndrome.

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Mucciolo, Mafalda; Dello Russo, Claudio; D'Emidio, Laura; Mesoraca, Alvaro; Giorlandino, Claudio

2016-06-16

Cardiofaciocutaneous syndrome (CFCS) belongs to a group of developmental disorders due to defects in the Ras/Mitogen-Activated Protein Kinase (RAS/MAPK) signaling pathway named RASophaties. While postnatal presentation of these disorders is well known, the prenatal and neonatal characteristics are less recognized. Noonan syndrome, Costello syndrome, and CFCS diagnosis should be considered in pregnancies with a normal karyotype and in the case of ultrasound findings such as increased nuchal translucency, polyhydramnios, macrosomia and cardiac defect. Because all the RASopathies share similar clinical features, their molecular characterization is complex, time consuming and expensive. Here we report a case of CFCS prenatally diagnosed through Next Generation Prenatal Diagnosis (NGPD), a new targeted approach that allows us to concurrently investigate all the genes involved in the RASophaties.

Centropontine myelinolysis related to refeeding syndrome in an adolescent suffering from anorexia nervosa.

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Leroy, Sandrine; Gout, Ariel; Husson, Beatrice; de Tournemire, Renault; Tardieu, Marc

2012-06-01

Centropontine myelinolysis (CPM) is a rare neurologic disorder defined by symmetric demyelination in the central pons, mostly due to alcoholism, malnutrition, or water-electrolyte abnormalities. We report an unusual case of CPM likely due to hypophosphatemia, related to a refeeding syndrome in the context of mental anorexia. A 15-year-old girl with mental anorexia presented with hypophosphatemia in the following days of enteral refeeding, and then suffered from confusion, neurological signs, and typical MRI lesions of CPM. Hypophosphoremia may be considered as a causative agent in CPM related to refeeding syndrome. This clinical observation also highlights the importance of recognizing patients at high risk of refeeding syndrome to initiate a balanced nutrition with careful monitoring. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Post-partum posterior reversible encephalopathy syndrome

DEFF Research Database (Denmark)

Aaen, Anne Albers; Jeppesen, Jørgen; Obaid, Hayder

2015-01-01

Posterior reversible encephalopathy syndrome (PRES) is a complex clinical condition with vasogenic subcortical oedema caused by hypertension. Oedema is often seen on magnetic resonance imaging. The wide clinical spectrum ranges from headaches to vision loss and even death. Early diagnosis...... and treatment is important for the reversibility of the condition. In this case report we emphasize the importance of blood pressure control in a post-partum woman, who had a rather complicated pregnancy. The symptoms of PRES were not recognized immediately because of failure to use and acknowledge a blood...

Post-partum posterior reversible encephalopathy syndrome

DEFF Research Database (Denmark)

Aaen, Anne Albers; Jeppesen, Jørgen; Obaid, Hayder

2015-01-01

and treatment is important for the reversibility of the condition. In this case report we emphasize the importance of blood pressure control in a post-partum woman, who had a rather complicated pregnancy. The symptoms of PRES were not recognized immediately because of failure to use and acknowledge a blood......Posterior reversible encephalopathy syndrome (PRES) is a complex clinical condition with vasogenic subcortical oedema caused by hypertension. Oedema is often seen on magnetic resonance imaging. The wide clinical spectrum ranges from headaches to vision loss and even death. Early diagnosis...

[Post-partum posterior reversible encephalopathy syndrome].

Science.gov (United States)

Aaen, Anne Albers; Jeppesen, Jørgen; Obaid, Hayder; Bülow, Hans Henrik

2015-11-23

Posterior reversible encephalopathy syndrome (PRES) is a complex clinical condition with vasogenic subcortical oedema caused by hypertension. Oedema is often seen on magnetic resonance imaging. The wide clinical spectrum ranges from headaches to vision loss and even death. Early diagnosis and treatment is important for the reversibility of the condition. In this case report we emphasize the importance of blood pressure control in a post-partum woman, who had a rather complicated pregnancy. The symptoms of PRES were not recognized immediately because of failure to use and acknowledge a blood pressure test.

Classifying dysmorphic syndromes by using artificial neural network based hierarchical decision tree.

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Özdemir, Merve Erkınay; Telatar, Ziya; Eroğul, Osman; Tunca, Yusuf

2018-05-01

Dysmorphic syndromes have different facial malformations. These malformations are significant to an early diagnosis of dysmorphic syndromes and contain distinctive information for face recognition. In this study we define the certain features of each syndrome by considering facial malformations and classify Fragile X, Hurler, Prader Willi, Down, Wolf Hirschhorn syndromes and healthy groups automatically. The reference points are marked on the face images and ratios between the points' distances are taken into consideration as features. We suggest a neural network based hierarchical decision tree structure in order to classify the syndrome types. We also implement k-nearest neighbor (k-NN) and artificial neural network (ANN) classifiers to compare classification accuracy with our hierarchical decision tree. The classification accuracy is 50, 73 and 86.7% with k-NN, ANN and hierarchical decision tree methods, respectively. Then, the same images are shown to a clinical expert who achieve a recognition rate of 46.7%. We develop an efficient system to recognize different syndrome types automatically in a simple, non-invasive imaging data, which is independent from the patient's age, sex and race at high accuracy. The promising results indicate that our method can be used for pre-diagnosis of the dysmorphic syndromes by clinical experts.

Churg-Strauss syndrome following cessation of allergic desensitization vaccination: a case report

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Mokri Bahareh

2010-06-01

Full Text Available Abstract Introduction Churg-Strauss syndrome is a vasculitis of medium to small sized vessels. Diagnosis is mainly clinical with findings of asthma, eosinophilia, rhinosinusitis and signs of vasculitis in major organs. Case presentation We present a case of a 19-year-old Persian male who developed signs and symptoms of this syndrome related to hyposensitization treatments for allergy control. Conclusions No unifying etiology for the disease can be presented as it is found associated with environmental factors, medications, infections and is even considered a variant of asthma with predisposition to vasculitic involvement. Therefore, it is important to recognize this disease and be aware of underdiagnosis because of emphasis on pathologic evidence. Here, we present a case of allergic desensitization causing Churg-Strauss syndrome in the absence of other known factors.

Olive oil and postprandial hyperlipidemia: implications for atherosclerosis and metabolic syndrome.

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Montserrat-de la Paz, Sergio; Bermudez, Beatriz; Cardelo, Magdalena P; Lopez, Sergio; Abia, Rocio; Muriana, Francisco J G

2016-12-07

Olive oil is the primary source of fat in the Mediterranean diet, which is associated with a significant improvement in health status, as measured by reduced mortality from several chronic diseases. The current pandemic of obesity, metabolic syndrome, and type 2 diabetes is intimately associated with an atherogenic dyslipidemic phenotype. The core components of the dyslipidemia of the metabolic syndrome, which most likely initiate atherosclerosis, are the "lipid triad" consisting of high plasma triglycerides, low levels of high-density lipoproteins, and a preponderance of small, dense low-density lipoproteins at fasting. However, postprandial (non-fasting) TGs (postprandial hyperlipidemia) are also recognized as an important component for atherosclerosis. Herein, the purpose of this review was to provide an update on the effects and mechanisms related to olive oil on postprandial hyperlipidemia and its implications for the onset and progression of atherosclerosis and metabolic syndrome.

Recognizing, Confronting, and Eliminating Workplace Bullying.

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Berry, Peggy Ann; Gillespie, Gordon L; Fisher, Bonnie S; Gormley, Denise K

2016-07-01

Workplace bullying (WPB) behaviors negatively affect nurse productivity, satisfaction, and retention, and hinder safe patient care. The purpose of this article is to define WPB, differentiate between incivility and WPB, and recommend actions to prevent WPB behaviors. Informed occupational and environmental health nurses and nurse leaders must recognize, confront, and eliminate WPB in their facilities and organizations. Recognizing, confronting, and eliminating WPB behaviors in health care is a crucial first step toward sustained improvements in patient care quality and the health and safety of health care employees. © 2016 The Author(s).

Recognizing textual entailment models and applications

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Dagan, Ido; Sammons, Mark

2013-01-01

In the last few years, a number of NLP researchers have developed and participated in the task of Recognizing Textual Entailment (RTE). This task encapsulates Natural Language Understanding capabilities within a very simple interface: recognizing when the meaning of a text snippet is contained in the meaning of a second piece of text. This simple abstraction of an exceedingly complex problem has broad appeal partly because it can be conceived also as a component in other NLP applications, from Machine Translation to Semantic Search to Information Extraction. It also avoids commitment to any sp

Acquired immunodeficiency syndrome associated with blood-product transfusions

International Nuclear Information System (INIS)

Jett, J.R.; Kuritsky, J.N.; Katzmann, J.A.; Homburger, H.A.

1983-01-01

A 53-year-old white man had fever, malaise, and dyspnea on exertion. His chest roentgenogram was normal, but pulmonary function tests showed impaired diffusion capacity and a gallium scan showed marked uptake in the lungs. Results of an open-lung biopsy documented Pneumocystis carinii pneumonia. Immunologic test results were consistent with the acquired immunodeficiency syndrome. The patient denied having homosexual contact or using intravenous drugs. Twenty-nine months before the diagnosis of pneumocystis pneumonia was made, the patient had had 16 transfusions of whole blood, platelets, and fresh-frozen plasma during coronary artery bypass surgery at another medical center. This patient is not a member of any currently recognized high-risk group and is believed to have contracted the acquired immunodeficiency syndrome from blood and blood-product transfusions

The use of emotions in narratives in Williams syndrome.

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Van Herwegen, Jo; Aznar, Ana; Tenenbaum, Harriet

2014-01-01

Although individuals with Williams syndrome are very sociable, they tend to have limited contact and friendships with peers. In typically developing children the use of positive emotions (e.g., happy) has been argued to be related to peer relationships and popularity. The current study investigated the use and development of emotion words in Williams syndrome using cross-sectional developmental trajectories and examined children's use of different types of emotion words. Nineteen children with Williams syndrome (WS) and 20 typically developing (TD) children matched for chronological age told a story from a wordless picture book. Participants with WS produced a similar number of emotion words compared to the control group and the use of emotion words did not change when plotted against chronological age or vocabulary abilities in either group. However, participants with WS produced more emotion words about sadness. Links between emotion production and friendships as well as future studies are discussed. After reading this article, readers will be able to: explain the development of positive and negative emotions in Williams syndrome and recognize that emotion production is atypical in this population. Copyright © 2014 Elsevier Inc. All rights reserved.

Art-therapy and Asperger Syndrome: ¿why, and what for?

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Pedro José Regis Sansalonis

2016-07-01

Full Text Available The purpose of this article is to explain the reason and importance of using art-therapy in groups dealing with Asperger Syndrome, through a bibliographic review, specially of secondary sources as a research work. Finally, it is recognized the scarce bibliography found, and the need of continuing to investigate art-therapy in this social group, still unknown by most of the society.

Positions statement: criteria for defining polycystic ovary syndrome as a predominantly hyperandrogenic syndrome: an Androgen Excess Society guideline.

Science.gov (United States)

Azziz, Ricardo; Carmina, Enrico; Dewailly, Didier; Diamanti-Kandarakis, Evanthia; Escobar-Morreale, Hector F; Futterweit, Walter; Janssen, Onno E; Legro, Richard S; Norman, Robert J; Taylor, Ann E; Witchel, Selma F

2006-11-01

The Androgen Excess Society (AES) charged a task force to review all available data and recommend an evidence-based definition for polycystic ovary syndrome (PCOS), whether already in use or not, to guide clinical diagnosis and future research. Participants included expert investigators in the field. Based on a systematic review of the published peer-reviewed medical literature, by querying MEDLINE databases, we tried to identify studies evaluating the epidemiology or phenotypic aspects of PCOS. The task force drafted the initial report, following a consensus process via electronic communication, which was then reviewed and critiqued by the AES Board of Directors. No section was finalized until all members were satisfied with the contents and minority opinions noted. Statements that were not supported by peer-reviewed evidence were not included. Based on the available data, it is the view of the AES Task Force on the Phenotype of PCOS that there should be acceptance of the original 1990 National Institutes of Health criteria with some modifications, taking into consideration the concerns expressed in the proceedings of the 2003 Rotterdam conference. A principal conclusion was that PCOS should be first considered a disorder of androgen excess or hyperandrogenism, although a minority considered the possibility that there may be forms of PCOS without overt evidence of hyperandrogenism but recognized that more data are required before validating this supposition. Finally, the task force recognized, and fully expects, that the definition of this syndrome will evolve over time to incorporate new research findings.

Embodying Emotional Disorders: New Hypotheses about Possible Emotional Consequences of Motor Disorders in Parkinson's Disease and Tourette's Syndrome

OpenAIRE

Mermillod, Martial; Vermeulen, Nicolas; Droit-Volet, Sylvie; Jalenques, Isabelle; Durif, Franck; Niedenthal, Paula

2011-01-01

Parkinson's disease (PD) and Tourette's syndrome (TS) lead to important motor disorders among patients such as possible facial amimia in PD and tics in Tourette's syndrome. Under the grounded cognition framework that shows the importance of motor embodiment in emotional feeling (Niedenthal, 2007), both types of pathology with motor symptoms should be sufficient to induce potential impairments for these patients when recognizing emotional facial expressions (EFE). In this opinion paper, we des...

76 FR 33419 - Nationally Recognized Statistical Rating Organizations

Science.gov (United States)

2011-06-08

... 232, 240, 249, et al. Nationally Recognized Statistical Rating Organizations; Proposed Rule #0;#0...-11] RIN 3235-AL15 Nationally Recognized Statistical Rating Organizations AGENCY: Securities and... rating organizations (``NRSROs''). In addition, in accordance with the Dodd-Frank Act, the Commission is...

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.

Roald Dahl and the complete locked-in syndrome: "Cold dead body, living brain"

DEFF Research Database (Denmark)

Kondziella, Daniel

2017-01-01

they no longer have any motor output at all. Of note, Roald Dahl, the internationally acclaimed children book author, described this complete locked-in syndrome in one of his short stories, William and Mary (1959), almost half a century before the medical community became aware of this devastating condition......The classical locked-in syndrome in which partially preserved eye movements allow for communication is well-recognized by most neurologists. Yet, it is much less well-known that patients exist who are clearly conscious but have lost all means of communicating it to the outside world because...

The relationship between eating disorder not otherwise specified (EDNOS) and officially recognized eating disorders: meta-analysis and implications for DSM.

Science.gov (United States)

Thomas, Jennifer J; Vartanian, Lenny R; Brownell, Kelly D

2009-05-01

Eating disorder not otherwise specified (EDNOS) is the most prevalent eating disorder (ED) diagnosis. In this meta-analysis, the authors aimed to inform Diagnostic and Statistical Manual of Mental Disorders revisions by comparing the psychopathology of EDNOS with that of the officially recognized EDs: anorexia nervosa (AN), bulimia nervosa (BN), and binge eating disorder (BED). A comprehensive literature search identified 125 eligible studies (published and unpublished) appearing in the literature from 1987 to 2007. Random effects analyses indicated that whereas EDNOS did not differ significantly from AN and BED on eating pathology or general psychopathology, BN exhibited greater eating and general psychopathology than EDNOS. Moderator analyses indicated that EDNOS groups who met all diagnostic criteria for AN except for amenorrhea did not differ significantly from full syndrome cases. Similarly, EDNOS groups who met all criteria for BN or BED except for binge frequency did not differ significantly from full syndrome cases. Results suggest that EDNOS represents a set of disorders associated with substantial psychological and physiological morbidity. Although certain EDNOS subtypes could be incorporated into existing Diagnostic and Statistical Manual of Mental Disorders (4th ed.; American Psychiatric Association, 1994) categories, others-such as purging disorder and non-fat-phobic AN-may be best conceptualized as distinct syndromes. (PsycINFO Database Record (c) 2009 APA, all rights reserved).

Emotion Recognition in Children With Down Syndrome: Influence of Emotion Label and Expression Intensity.

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Cebula, Katie R; Wishart, Jennifer G; Willis, Diane S; Pitcairn, Tom K

2017-03-01

Some children with Down syndrome may experience difficulties in recognizing facial emotions, particularly fear, but it is not clear why, nor how such skills can best be facilitated. Using a photo-matching task, emotion recognition was tested in children with Down syndrome, children with nonspecific intellectual disability and cognitively matched, typically developing children (all groups N = 21) under four conditions: veridical vs. exaggerated emotions and emotion-labelling vs. generic task instructions. In all groups, exaggerating emotions facilitated recognition accuracy and speed, with emotion labelling facilitating recognition accuracy. Overall accuracy and speed did not differ in the children with Down syndrome, although recognition of fear was poorer than in the typically developing children and unrelated to emotion label use. Implications for interventions are considered.

Endocrine Disease in Aged Horses.

Science.gov (United States)

Durham, Andy E

2016-08-01

Aging horses may be at particular risk of endocrine disease. Two major equine endocrinopathies, pituitary pars intermedia dysfunction and equine metabolic syndrome, are commonly encountered in an aging population and may present with several recognizable signs, including laminitis. Investigation, treatment, and management of these diseases are discussed. Additionally, aging may be associated with development of rarer endocrinopathic problems, often associated with neoplasia, including diabetes mellitus and other confounders of glucose homeostasis, as well as thyroid, parathyroid, and adrenal diseases. Brief details of the recognition and management of these conditions are presented. Copyright © 2016 Elsevier Inc. All rights reserved.

Marfan syndrome: An eyesight of syndrome☆

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Kumar, Ashok; Agarwal, Sarita

2014-01-01

Marfan syndrome (MFS), a relatively common autosomal dominant hereditary disorder of connective tissue with prominent manifestations in the skeletal, ocular, and cardiovascular systems, is caused by mutations in the glycoprotein gene fibrillin-1 (FBN1). Aortic root dilation and mitral valve prolapse are the main presentations among the cardiovascular malformations of MFS. The revised Ghent diagnostics nosology of Marfan syndrome is established in accordance with a combination of major and minor clinical manifestations in various organ systems and the family history. The pathogenesis of Marfan syndrome has not been fully elucidated. However, fibrillin-1 gene mutations are believed to exert a dominant negative effect. The treatment includes prophylactic β-blockers and angiotensin II-receptor blockers in order to slow down the dilation of the ascending aorta and prophylactic aortic surgery. Importantly, β-blocker therapy may reduce TGF-β activation, which has been recognized as a contributory factor in MFS. The identification of a mutation allows for early diagnosis, prognosis, genetic counseling, preventive management of carriers and reassurance for unaffected relatives. The importance of knowing in advance the location of the putative family mutation is highlighted by its straightforward application to prenatal and postnatal screening. The present article aims to provide an overview of this rare hereditary disorder. PMID:25606393

Recognizing Body Dysmorphic Disorder (Dysmorphophobia)

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Varma, Anukriti; Rastogi, Rajesh

2015-01-01

Dysmorphophobia is a psychiatric condition which frequently presents in the clinics of dermatologists and plastic surgeons. This disorder (also called body dysmorphic disorder) is troublesome to the patient whilst being confusing for the doctor. This commonly undiagnosed condition can be detected by a few simple steps. Timely referral to a psychiatrist benefits most patients suffering from it. This article describes with a case vignette, how to recognize body dysmorphic disorder presenting in the dermatological or aesthetic surgery set up. Diagnostic criteria, eitiology, approach to patient, management strategy and when to refer are important learning points. The importance of recognizing this disorder timely and referring the patient to the psychiatrist for appropriate treatment is crucial. This article covers all aspects of body dysmorphic disorder relevant to dermatologists and plastic surgeons and hopes to be useful in a better understanding of this disorder. PMID:26644741

Parenting style and the vulnerable child syndrome.

Science.gov (United States)

Duncan, Andrea Freeman; Caughy, Margaret O'Brien

2009-11-01

Vulnerable child syndrome (VCS) refers to the combination of the parental view that their child is at increased risk for death despite the child's objective health and the resulting behavior problems in the child. Although risk factors for the development of the syndrome have been outlined, the variability in the development of VCS has not been explained. A theoretical explanation for the variability in the development of VCS utilizing Susan Calkins' model is explored. By considering the development of VCS in light of Calkins' model, variability may be explained and preventative interventions may be instituted. Relevant literature pertaining to child development and VCS was reviewed. By recognizing the risk of the role that parenting sensitivity plays in the development of VCS, team-based interventions involving a developmental approach may be employed, and the long-term behavioral sequelae of the disorder may be prevented or alleviated.

Next Generation Sequencing Approach in a Prenatal Case of Cardio-Facio-Cutaneus Syndrome

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Mafalda Mucciolo

2016-06-01

Full Text Available Cardiofaciocutaneous syndrome (CFCS belongs to a group of developmental disorders due to defects in the Ras/Mitogen-Activated Protein Kinase (RAS/MAPK signaling pathway named RASophaties. While postnatal presentation of these disorders is well known, the prenatal and neonatal characteristics are less recognized. Noonan syndrome, Costello syndrome, and CFCS diagnosis should be considered in pregnancies with a normal karyotype and in the case of ultrasound findings such as increased nuchal translucency, polyhydramnios, macrosomia and cardiac defect. Because all the RASopathies share similar clinical features, their molecular characterization is complex, time consuming and expensive. Here we report a case of CFCS prenatally diagnosed through Next Generation Prenatal Diagnosis (NGPD, a new targeted approach that allows us to concurrently investigate all the genes involved in the RASophaties.

Diet-induced obesity exacerbates metabolic and behavioral effects of polycystic ovary syndrome in a rodent model.

Science.gov (United States)

Ressler, Ilana B; Grayson, Bernadette E; Ulrich-Lai, Yvonne M; Seeley, Randy J

2015-06-15

Polycystic ovary syndrome (PCOS) is the most common endocrinopathy affecting women of reproductive age. Although a comorbidity of PCOS is obesity, many are lean. We hypothesized that increased saturated fat consumption and obesity would exacerbate metabolic and stress indices in a rodent model of PCOS. Female rats were implanted with the nonaromatizable androgen dihydrotestosterone (DHT) or placebo pellets prior to puberty. Half of each group was maintained ad libitum on either a high-fat diet (HFD; 40% butter fat calories) or nutrient-matched low-fat diet (LFD). Irrespective of diet, DHT-treated animals gained more body weight, had irregular cycles, and were glucose intolerant compared with controls on both diets. HFD/DHT animals had the highest levels of fat mass and insulin resistance. DHT animals demonstrated increased anxiety-related behavior in the elevated plus maze by decreased distance traveled and time in the open arms. HFD consumption increased immobility during the forced-swim test. DHT treatment suppressed diurnal corticosterone measurements in both diet groups. In parallel, DHT treatment significantly dampened stress responsivity to a mild stressor. Brains of DHT animals showed attenuated c-Fos activation in the ventromedial hypothalamus and arcuate nucleus; irrespective of DHT-treatment, however, all HFD animals had elevated hypothalamic paraventricular nucleus c-Fos activation. Whereas hyperandrogenism drives overall body weight gain, glucose intolerance, anxiety behaviors, and stress responsivity, HFD consumption exacerbates the effect of androgens on adiposity, insulin resistance, and depressive behaviors. Copyright © 2015 the American Physiological Society.

46 CFR 188.10-59 - Recognized classification society.

Science.gov (United States)

2010-10-01

... 46 Shipping 7 2010-10-01 2010-10-01 false Recognized classification society. 188.10-59 Section 188... VESSELS GENERAL PROVISIONS Definition of Terms Used in This Subchapter § 188.10-59 Recognized classification society. This term means the American Bureau of Shipping or other classification society...

Recognition of Emotional and Nonemotional Facial Expressions: A Comparison between Williams Syndrome and Autism

Science.gov (United States)

Lacroix, Agnes; Guidetti, Michele; Roge, Bernadette; Reilly, Judy

2009-01-01

The aim of our study was to compare two neurodevelopmental disorders (Williams syndrome and autism) in terms of the ability to recognize emotional and nonemotional facial expressions. The comparison of these two disorders is particularly relevant to the investigation of face processing and should contribute to a better understanding of social…

Renal Impairment in Cirrhosis Unrelated to Hepatorenal Syndrome

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Gavin Low

2015-01-01

Full Text Available Renal impairment is common in liver disease and may occur as a consequence of the pathophysiological changes that underpin cirrhosis or secondary to a pre-existing unrelated insult. Nevertheless, the onset of renal impairment often portends a worsening prognosis. Hepatorenal syndrome remains one of the most recognized and reported causes of renal impairment in cirrhosis. However, other causes of renal impairment occur and can be classified into prerenal, intrinsic or postrenal, which are the subjects of the present review.

Drug reaction with eosinophilia and systemic symptoms syndrome.

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Spriet, Sarah; Banks, Taylor A

2015-01-01

Drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome is a potentially life-threatening adverse drug reaction. To increase awareness of the potential for recurrence in patients with a history of DRESS syndrome and provide a brief review of the clinical characteristics, diagnosis, and management of this disease process. The authors selected and reviewed salient articles on the topic and incorporated pertinent information from the patient's clinical course. A case of recurrent DRESS triggered by a structurally unrelated drug is presented, followed by discussion of the clinical characteristics, diagnosis, and management. Clinical pearls and pitfalls are emphasized for the practicing allergist, clinical immunologist, and fellow-in-training. The most important steps in the treatment of this condition are the identification and removal of the offending agent. Providers should be aware of the potential for recurrent DRESS and recognize the importance of prompt management.

Klippel – Feil Syndrome Associated with Congential Heart Disease Presentaion of Cases and a Review of the Curent Literature

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Ramush Bejiqi

2015-03-01

Since first classification from Feil in three categories (I – III other classification systems have been advocated to describe the anomalies, predict the potential problems, and guide treatment decisions. Patients with Klippel-Feil syndrome usually present with the disease during childhood, but may present later in life. The challenge to the clinician is to recognize the associated anomalies that can occur with Klippel-Feil syndrome and to perform the appropriate workup for diagnosis.

Imaging findings in a child with calcineurin inhibitor-induced pain syndrome after bone marrow transplant for beta thalassemia major

Energy Technology Data Exchange (ETDEWEB)

Ayyala, Rama S.; Arnold, Staci D.; Bhatia, Monica; Dastgir, Jahannaz [Columbia University Medical Center, Morgan Stanley Children' s Hospital, Department of Radiology, New York, NY (United States)

2016-10-15

Calcineurin inhibitor-induced pain syndrome is an entity recognized in patients on immunosuppressive therapy after transplantation. Diagnosis is characterized by onset of pain beginning in the setting of an elevated calcineurin-inhibitor trough level. Reducing the medication dose relieves symptoms. Imaging findings can be nonspecific, including bone marrow edema and periosteal reaction. We present the unique case of calcineurin inhibitor-induced pain syndrome in a child and review the imaging findings. (orig.)

Imaging findings in a child with calcineurin inhibitor-induced pain syndrome after bone marrow transplant for beta thalassemia major

International Nuclear Information System (INIS)

Ayyala, Rama S.; Arnold, Staci D.; Bhatia, Monica; Dastgir, Jahannaz

2016-01-01

Calcineurin inhibitor-induced pain syndrome is an entity recognized in patients on immunosuppressive therapy after transplantation. Diagnosis is characterized by onset of pain beginning in the setting of an elevated calcineurin-inhibitor trough level. Reducing the medication dose relieves symptoms. Imaging findings can be nonspecific, including bone marrow edema and periosteal reaction. We present the unique case of calcineurin inhibitor-induced pain syndrome in a child and review the imaging findings. (orig.)

Beyond alcoholism: Wernicke-Korsakoff syndrome in patients with psychiatric disorders.

Science.gov (United States)

McCormick, Laurie M; Buchanan, Judith R; Onwuameze, Obiora E; Pierson, Ronald K; Paradiso, Sergio

2011-12-01

Wernicke encephalopathy and Korsakoff syndrome (the combined disorder is named Wernicke-Korsakoff syndrome [WKS]) are preventable, life-threatening neuropsychiatric syndromes resulting from thiamine deficiency. WKS has historically been associated with alcoholism; more recently, it has been recognized in patients who have anorexia nervosa or have undergone bariatric surgery for obesity. However, patients with nutritional deficiencies of any origin are at risk for WKS. We present clinical histories and neuroimaging data on 2 young adults with underlying psychiatric disorders who became malnourished and developed WKS. A young woman with bipolar disorder and somatization disorder was hospitalized for intractable vomiting. A young man with chronic paranoid schizophrenia developed delusions that food and water were harmful, and was hospitalized after subsisting for 4 months on soda pop. Acute, life-threatening Wernicke encephalopathy was confirmed in both patients by brain magnetic resonance imaging showing classic thalamic injury. The patients were left with persistent cognitive and physical disabilities that were consistent with Korsakoff syndrome. Failure to suspect a vitamin deficiency led to permanent cognitive and physical disabilities that may necessitate lifelong care for these patients. The neuropsychiatric consequences could have been prevented by prompt recognition of their thiamine deficiency.

Prevalence Of Burnout Syndrome And Factors Associated With University Teachers

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Ericka Silva Holmes

2017-03-01

Full Text Available This is a systematic review that sought to identify the prevalence and factors associated with Burnout Syndrome in university teachers. The collection of the studies was done through descriptors in databases, which resulted in the selection of 8 articles. The prevalence for burnout had a small variation, but presented worrying values. The most frequent associated factors were: work overload, accumulation of activities beyond teaching, high employment ties, devaluation of the work performed and low remuneration. Burnout is still little recognized and studied in the category of university teachers, and it is difficult to identify an exact prevalence for this category. However, the associated factors are well defined and should be considered as a starting point for the prevention of the syndrome.

Giant hepatic regenerative nodules in Alagille syndrome

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Rapp, Jordan B. [Lewis Katz School of Medicine at Temple University, Department of Radiology, Temple University Hospital, Philadelphia, PA (United States); Bellah, Richard D.; Anupindi, Sudha A. [The Children' s Hospital of Philadelphia, Department of Radiology, Philadelphia, PA (United States); University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA (United States); Maya, Carolina [The Children' s Hospital of Philadelphia, Department of Radiology, Philadelphia, PA (United States); Pawel, Bruce R. [University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA (United States); The Children' s Hospital of Philadelphia, Department of Pathology and Laboratory Medicine, Philadelphia, PA (United States)

2017-02-15

Children with Alagille syndrome undergo surveillance radiologic examinations as they are at risk for developing cirrhosis and hepatocellular carcinoma. There is limited literature on the imaging of liver masses in Alagille syndrome. We report the ultrasound (US) and magnetic resonance imaging (MRI) appearances of incidental benign giant hepatic regenerative nodules in this population. To describe the imaging findings of giant regenerative nodules in patients with Alagille syndrome. A retrospective search of the hospital database was performed to find all cases of hepatic masses in patients with Alagille syndrome during a 10-year period. Imaging, clinical charts, laboratory data and available pathology were reviewed and analyzed and summarized for each patient. Twenty of 45 patients with confirmed Alagille syndrome had imaging studies. Of those, we identified six with giant focal liver masses. All six patients had large central hepatic masses that were remarkably similar on US and MRI, in addition to having features of cirrhosis. In each case, the mass was located in hepatic segment VIII and imaging showed the mass splaying the main portal venous branches at the hepatic hilum, as well as smaller portal and hepatic venous branches coursing through them. On MRI, signal intensity of the mass was isointense to liver on T1-weighted sequences in four of six patients, but hyperintense on T1 in two of six patients. In all six cases, the mass was hypointense on T2- weighted sequences. The mass post-contrast was isointense to adjacent liver in all phases in five the cases. Five out of six patients had pathological correlation demonstrating preserved ductal architecture confirming the final diagnosis of a regenerative nodule. Giant hepatic regenerative nodules with characteristic US and MR features can occur in patients with Alagille syndrome with underlying cirrhosis. Recognizing these lesions as benign giant hepatic regenerative nodules should, thereby, mitigate any need for

Giant hepatic regenerative nodules in Alagille syndrome

International Nuclear Information System (INIS)

Rapp, Jordan B.; Bellah, Richard D.; Anupindi, Sudha A.; Maya, Carolina; Pawel, Bruce R.

2017-01-01

Children with Alagille syndrome undergo surveillance radiologic examinations as they are at risk for developing cirrhosis and hepatocellular carcinoma. There is limited literature on the imaging of liver masses in Alagille syndrome. We report the ultrasound (US) and magnetic resonance imaging (MRI) appearances of incidental benign giant hepatic regenerative nodules in this population. To describe the imaging findings of giant regenerative nodules in patients with Alagille syndrome. A retrospective search of the hospital database was performed to find all cases of hepatic masses in patients with Alagille syndrome during a 10-year period. Imaging, clinical charts, laboratory data and available pathology were reviewed and analyzed and summarized for each patient. Twenty of 45 patients with confirmed Alagille syndrome had imaging studies. Of those, we identified six with giant focal liver masses. All six patients had large central hepatic masses that were remarkably similar on US and MRI, in addition to having features of cirrhosis. In each case, the mass was located in hepatic segment VIII and imaging showed the mass splaying the main portal venous branches at the hepatic hilum, as well as smaller portal and hepatic venous branches coursing through them. On MRI, signal intensity of the mass was isointense to liver on T1-weighted sequences in four of six patients, but hyperintense on T1 in two of six patients. In all six cases, the mass was hypointense on T2- weighted sequences. The mass post-contrast was isointense to adjacent liver in all phases in five the cases. Five out of six patients had pathological correlation demonstrating preserved ductal architecture confirming the final diagnosis of a regenerative nodule. Giant hepatic regenerative nodules with characteristic US and MR features can occur in patients with Alagille syndrome with underlying cirrhosis. Recognizing these lesions as benign giant hepatic regenerative nodules should, thereby, mitigate any need for

Recognizing Facial Slivers.

Science.gov (United States)

Gilad-Gutnick, Sharon; Harmatz, Elia Samuel; Tsourides, Kleovoulos; Yovel, Galit; Sinha, Pawan

2018-07-01

We report here an unexpectedly robust ability of healthy human individuals ( n = 40) to recognize extremely distorted needle-like facial images, challenging the well-entrenched notion that veridical spatial configuration is necessary for extracting facial identity. In face identification tasks of parametrically compressed internal and external features, we found that the sum of performances on each cue falls significantly short of performance on full faces, despite the equal visual information available from both measures (with full faces essentially being a superposition of internal and external features). We hypothesize that this large deficit stems from the use of positional information about how the internal features are positioned relative to the external features. To test this, we systematically changed the relations between internal and external features and found preferential encoding of vertical but not horizontal spatial relationships in facial representations ( n = 20). Finally, we employ magnetoencephalography imaging ( n = 20) to demonstrate a close mapping between the behavioral psychometric curve and the amplitude of the M250 face familiarity, but not M170 face-sensitive evoked response field component, providing evidence that the M250 can be modulated by faces that are perceptually identifiable, irrespective of extreme distortions to the face's veridical configuration. We theorize that the tolerance to compressive distortions has evolved from the need to recognize faces across varying viewpoints. Our findings help clarify the important, but poorly defined, concept of facial configuration and also enable an association between behavioral performance and previously reported neural correlates of face perception.

Carpal tunnel syndrome. Risk factors and preventive strategies for the dental hygienist.

Science.gov (United States)

Gerwatowski, L J; McFall, D B; Stach, D J

1992-02-01

Carpal tunnel syndrome (CTS) is well recognized as an occupational risk for dental hygienists. The contributing risk factors fall primarily into two categories: medical and occupational. The purposes of this paper are to examine the factors that predispose one to CTS in order to increase awareness among dental hygienists, and to offer preventive strategies that can be incorporated into daily practice.

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

LENUS (Irish Health Repository)

Hussain, Z

2012-02-03

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

Marathon of eponyms: 7 Gorlin-Goltz syndrome (Naevoid basal-cell carcinoma syndrome).

Science.gov (United States)

Scully, C; Langdon, J; Evans, J

2010-01-01

The use of eponyms has long been contentious, but many remain in common use, as discussed elsewhere (Editorial: Oral Diseases. 2009: 15; 185). The use of eponyms in diseases of the head and neck is found mainly in specialties dealing with medically compromised individuals (paediatric dentistry, special care dentistry, oral and maxillofacial medicine, oral and maxillofacial pathology, oral and maxillofacial radiology and oral and maxillofacial surgery) and particularly by hospital-centred practitioners. This series has selected some of the more recognized relevant eponymous conditions and presents them alphabetically. The information is based largely on data available from MEDLINE and a number of internet websites as noted below: the authors would welcome any corrections. This document summarizes data about Gorlin-Goltz syndrome.

Recognizing Multi-user Activities using Body Sensor Networks

DEFF Research Database (Denmark)

Gu, Tao; Wang, Liang; Chen, Hanhua

2011-01-01

The advances of wireless networking and sensor technology open up an interesting opportunity to infer human activities in a smart home environment. Existing work in this paradigm focuses mainly on recognizing activities of a single user. In this work, we address the fundamental problem...... activity classes of data—for building activity models and design a scalable, noise-resistant, Emerging Pattern based Multi-user Activity Recognizer (epMAR) to recognize both single- and multi-user activities. We develop a multi-modal, wireless body sensor network for collecting real-world traces in a smart...... home environment, and conduct comprehensive empirical studies to evaluate our system. Results show that epMAR outperforms existing schemes in terms of accuracy, scalability and robustness....

Do You Recognize This Parent?

Science.gov (United States)

Wallace, Edna

1997-01-01

Suggests effective ways to work with parents who may be permissive, busy, detached, overprotective, or negative. Recommends that child care professionals be sensitive and understanding, recognize other demands on parents' time and communicate competitively with them, use terms parents understand, accept various levels of parental involvement, be…

Massive Scrotal Edema: An Unusual Manifestation of Obstructive Sleep Apnea and Obesity-Hypoventilation Syndrome

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Stephanie E. Dreifuss

2013-01-01

Full Text Available Obstructive sleep apnea (OSA may occur in association with obesity-hypoventilation (Pickwickian syndrome, a disorder of ventilatory control affecting individuals with morbid obesity. Through the pressor effects of chronic hypercapnia and hypoxemia, this syndrome may result in pulmonary hypertension, right heart failure, and massive peripheral edema. We present a case of severe scrotal edema in a 36-year-old male with OSA and obesity-hypoventilation syndrome. A tracheostomy was performed to relieve hypoxemia and led to dramatic improvement of scrotal edema. No scrotal surgery was necessary. Followup at two months showed complete resolution of scrotal edema, improvement in mental status, and normalization of arterial blood gas measurements. This case demonstrates that OSA and obesity-hypoventilation syndrome may present with massive scrotal edema. Furthermore, if OSA is recognized as the cause of right heart failure, and if the apnea is corrected, the resultant improvement in cardiac function may allow reversal of massive peripheral, including scrotal, edema.

Massive scrotal edema: an unusual manifestation of obstructive sleep apnea and obesity-hypoventilation syndrome.

Science.gov (United States)

Dreifuss, Stephanie E; Manders, Ernest K

2013-01-01

Obstructive sleep apnea (OSA) may occur in association with obesity-hypoventilation (Pickwickian) syndrome, a disorder of ventilatory control affecting individuals with morbid obesity. Through the pressor effects of chronic hypercapnia and hypoxemia, this syndrome may result in pulmonary hypertension, right heart failure, and massive peripheral edema. We present a case of severe scrotal edema in a 36-year-old male with OSA and obesity-hypoventilation syndrome. A tracheostomy was performed to relieve hypoxemia and led to dramatic improvement of scrotal edema. No scrotal surgery was necessary. Followup at two months showed complete resolution of scrotal edema, improvement in mental status, and normalization of arterial blood gas measurements. This case demonstrates that OSA and obesity-hypoventilation syndrome may present with massive scrotal edema. Furthermore, if OSA is recognized as the cause of right heart failure, and if the apnea is corrected, the resultant improvement in cardiac function may allow reversal of massive peripheral, including scrotal, edema.

Posterior Reversible Encephalopathy Syndrome Presenting as Stroke Mimic

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Daniel Frick

2017-05-01

Full Text Available We present the case of a 33-year-old male with end stage renal disease presenting to the emergency department (ED with headache, dizziness, and unilateral weakness. Initial concern was for ischemic or hemorrhagic stroke. Magnetic resonance imaging confirmed posterior reversible encephalopathy syndrome (PRES. The patient was treated appropriately and made a full neurologic recovery. PRES is an under-recognized diagnosis in the ED. As a stroke mimic, PRES can lead the clinician on an incorrect diagnostic pathway with potential for iatrogenic harm.

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

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Neha Khambete

2012-01-01

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

Williams-Beuren syndrome: pitfalls for diagnosis in limited resources setting

OpenAIRE

Lumaka, Aimé; Lukoo, Rita; Mubungu, Gerrye; Lumbala, Paul; Mbayabo, Gloire; Mupuala, Aimée; Lukusa-Tshilobo, Prosper; Devriendt, Koenraad

2016-01-01

Key Clinical Message Patients with Williams?Beuren Syndrome can be recognized clinically, given the characteristic dysmorphism, intellectual disability, and behavior. We report on a Congolese boy with typical WBS facial characteristics. He suffered meningitis and coma at the age of 2 years then subsequently presented with profound intellectual disability and atypical behavior. The WBS was only made at age 8.2 years and confirmed with FISH testing and microarray?CGH. The present report aims to...

A case of cerebral reversible vasoconstriction syndrome triggered by repetition transcranial magnetic stimulation.

Science.gov (United States)

Sato, Mamiko; Yamate, Koji; Hayashi, Hiromi; Miura, Toyoaki; Kobayashi, Yasutaka

2017-08-31

A 75-year-old man was admitted for combined low-frequency repetitive transcranial magnetic stimulation (rTMS) and intensive occupational therapy. Five days after the initiation of rTMS, he developed hypotension and temporary exacerbation of the right hemiplegia with thunderclap headache. MRA showed segmental stenosis of the left middle cerebral artery, which findings were improved at 9 days after the onset of the headache. He was diagnosed as having the reversible cerebral vasoconstriction syndrome (RCVS). The rTMS was recognized as safe rehabilitation treatment. However, it is necessary to recognize that RCVS can become one of the precipitants. This is the first report of RCVS triggered by rTMS.

Inflammatory markers before and after farrowing in healthy sows and in sows affected with postpartum dysgalactia syndrome

DEFF Research Database (Denmark)

Kaiser, Marianne; Jacobson, Magdalena; Andersen, Pia Haubro

2018-01-01

Background The pathogenesis of postpartum dysgalactia syndrome (PDS) in sows is not fully elucidated and affected sows often present vague clinical signs. Accurate and timely diagnosis is difficult, and PDS is often recognized with a delay once piglets begin to starve. Increased rectal temperatur...

Equipping African American Clergy to Recognize Depression.

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Anthony, Jean Spann; Morris, Edith; Collins, Charles W; Watson, Albert; Williams, Jennifer E; Ferguson, Bʼnai; Ruhlman, Deborah L

2016-01-01

Many African Americans (AAs) use clergy as their primary source of help for depression, with few being referred to mental health providers. This study used face-to-face workshops to train AA clergy to recognize the symptoms and levels of severity of depression. A pretest/posttest format was used to test knowledge (N = 42) about depression symptoms. Results showed that the participation improved the clergy's ability to recognize depression symptoms. Faith community nurses can develop workshops for clergy to improve recognition and treatment of depression.

Ramsay Hunt syndrome with unilateral polyneuropathy involving cranial nerves V, VII, VIII, and XII in a diabetic patient.

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Sun, Wei-Lian; Yan, Jian-Liang; Chen, Li-Li

2011-01-01

Ramsay Hunt syndrome is a rare complication of the varicella zoster virus, defined as a peripheral facial palsy that typically results from involvement of the facial and auditory nerves. Ramsay Hunt syndrome can be associated with cranial nerves V, VI, IX, and X but rarely with XII. We describe an atypical case of Ramsay Hunt syndrome with multiple cranial nerve involvement of nerves V, VII, VIII, and XII. Antiviral drugs, antibiotics, insulin, and traditional Chinese drugs were administered immediately after admission. After 3 months of combination therapy, the patient had recovered satisfactorily. Herpes zoster can cause severe infections in diabetic patients and should be treated as soon after detection as possible. Ramsay Hunt syndrome should be recognized as a polycranial neuritis characterized by damage to sensory and motor nerves. In addition to facial and vestibular nerve paralysis, Ramsay Hunt syndrome may also involve cranial nerves V and XII.

Vanishing Lung Syndrome in a Patient with HIV Infection and Heavy Marijuana Use

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Basheer Tashtoush

2014-01-01

Full Text Available Vanishing lung syndrome (VLS is a rare and distinct clinical syndrome that usually affects young men. VLS leads to severe progressive dyspnea and is characterized by extensive, asymmetric, peripheral, and predominantly upper lobe giant lung bullae. Case reports have suggested an additive role of marijuana use in the development of this disease in young male tobacco smokers. We herein report a case of a 65-year-old Hispanic male previously diagnosed with severe emphysema and acquired immune deficiency syndrome (AIDS, with a history of intravenous heroin use and active marijuana smoking who presents to the emergency department with severe progressive shortness of breath he was found to have multiple large subpleural bullae occupying more than one-third of the hemithorax on chest computerized tomography (CT, characteristic of vanishing lung syndrome. The patient was mechanically ventilated and later developed a pneumothorax requiring chest tube placement and referral for surgical bullectomy. Surgical bullectomy has shown high success rates in alleviating the debilitating symptoms and preventing the life threatening complications of this rare syndrome. This case further emphasizes the importance of recognizing VLS in patients with severe emphysema and heavy marijuana smoking.

PCOS remains a diagnosis of exclusion: a concise review of key endocrinopathies to exclude.

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Kyritsi, Eleni Magdalini; Dimitriadis, George K; Kyrou, Ioannis; Kaltsas, Gregory; Randeva, Harpal S

2017-01-01

Polycystic ovarian syndrome (PCOS) is a heterogenous disorder associated with clinical, endocrine and ultrasonographic features that can also be encountered in a number of other diseases. It has traditionally been suggested that prolactin excess, enzymatic steroidogenic abnormalities and thyroid disorders need to be excluded before a diagnosis of PCOS is made. However, there is paucity of data regarding the prevalence of PCOS phenotype in some of these disorders, whereas other endocrine diseases that exhibit PCOS-like features may elude diagnosis and proper management if not considered. This article reviews the data of currently included entities that exhibit a PCOS phenotype and those that potentially need to be looked for, and attempts to identify specific features that distinguish them from idiopathic PCOS. © 2016 John Wiley & Sons Ltd.

Recognizing and Managing Interpersonal Conflict.

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Deane, Nancy; Hovland, Michael

1993-01-01

Practical advice is offered, to managers and supervisors at any level, on recognizing and analyzing interpersonal conflicts, managing such conflicts and making them productive, and ensuring that performance reviews result in progress for both supervisor and employee. Conflict is seen as inevitable, an opportunity to take action, and manageable.…

Recognizing Prefixes in Scientific Quantities

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Sokolowski, Andrzej

2015-01-01

Although recognizing prefixes in physical quantities is inherent for practitioners, it might not be inherent for students, who do not use prefixes in their everyday life experiences. This deficiency surfaces in AP Physics exams. For example, readers of an AP Physics exam reported "a common mistake of incorrectly converting nanometers to…

USHER SYNDROME IN EDUCATIONAL SETTINGS: INDIGENOUS IDENTIFICATION STRATEGIES DEVELOPED IN INDIA

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Gnanathicam Victoria NAOMI

2013-09-01

Full Text Available Introduction:most teachers of hearing and visually impaired children in India have to learn more about the prevalence and characteristics of Usher Syndrome. Keeping in mind the need to address this neglected population, the present study was designed and executed in South India.Goals:the goals of the study were to identify students with Usher Syndrome in educational settings using indigenous techniques, and to develop and describe a protocol for identifying these students.Methodology:seven hundred hearing impaired students studying in residential and inclusive schools in four districts of the State Tamil Nadu were screened using tools which included screening for distance and near vision, field of vision, dark adaptation, glare and contrast sensitivity.Results:ten students between the age of 14- 20 were found to be at risk of having Usher Syndrome. Finally, 6 subjects who had a diagnosis of retinitis pigmentosa were clinically identified with Usher Syndrome.Conclusion:these identification strategies will assist special education and rehabilitation pro­fess­ionals in recognizing symptoms of Usher Synd­rome so that they will be able to refer these children for diagnostic and supportive services.

[An evaluation of HLA class 2 alleles and anti-islet antibodies as evidence for non-autoimmune diabetes in Wolfram syndrome].

Science.gov (United States)

Zmysłowska, Agnieszka; Borowiec, Maciej; Antosik, Karolina; Wyka, Krystyna; Cieślik-Heinrich, Agnieszka; Klich, Izabela; Młynarski, Wojciech

2010-01-01

A clinical criterion of the Wolfram syndrome is the coexistence of diabetes and optic atrophy recognized before the age of 15. Diabetes present in Wolfram syndrome is a result of the selective β cell loss and failed insulin secretion which is probably associated with non-autoimmune pathogenesis. The aim of the study was an evaluation of HLA subtypes and presence of β-cell autoantibodies in patients with molecularly confirmed Wolfram syndrome. 9 patients with Wolfram syndrome aged 10-24 years were examined. We also studied 218 patients with type 1 diabetes as a reference group. A control group of 176 healthy individuals was included in the study. Besides the clinical assessment the HLA typing by PCR-SSO was performed. Islet cell antibodies (ICA), antibodies to glutamic acid decarboxylase (GADA), thyrosine phosphatase antibodies (IA2A) and insulin antibodies (IAA) were also detected. In all nine patients the coexistence of diabetes with optic atrophy was observed and in 8/9 individuals additional symptoms were recognized. In patients with Wolfram syndrome a significantly lower age of diagnosis of diabetes (Me=5.0 years) than in type 1 diabetic children (Me=10.4; p=0.002) was observed. Studies of HLA subtypes demonstrated an increased prevalence of HLA-DQw1, DRB1⋅03 and/or 04 and DR2. A comparison of the frequency of the HLA alleles in patients with Wolfram syndrome with type 1 diabetic children showed a more frequent presence of the DRB1⋅1501 (p=0.03; OR=13.28 (2.44-72.12)) and DQB1⋅06 (p=0.016; OR=10.15 (2.49-41.35)) alleles in patients with Wolfram syndrome. Polish patients with Wolfram syndrome have a different profile of the HLA antigens with the presence of DR2, DQw1 and DRB3/4 allele and are negative for diabetes-related autoantibodies, which may confirm non-autoimmune β-cell destruction in this syndrome.

Cervical vertebral fusion (Klippel-Feil) syndrome with consanguineous parents.

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Juberg, R C; Gershanik, J J

1976-06-01

We describe a female infant with the cervical vertebral fusion (Klippel-Feil) syndrome whom we recognized at birth because of her short neck, restriction of cervical movement, and low posterior hairline. X-ray examination showed anomalies of C1, and between C2-3 and C3-4; thus, we classified her as type II, with variable cervical fusion. At 24 months she was small and manifested hearing deficiency. The mother and father were consanguineous with five common ancestors four generations ago, which resulted in a coefficient of inbreeding equivalent to a second cousin relationship. The parents and grandparents were phenotypically normal, and the parents were radiologically normal. This form of the syndrome has previously been said to be autosomal dominant. Our conclusion of determination by a single autosomal recessive gene is evidence of genetic heterogeneity.

Small carpal bone surface area, a characteristic of Turner's syndrome

International Nuclear Information System (INIS)

Cleveland, R.H.; Done, S.; Correia, J.A.; Crawford, J.D.; Kushner, D.C.; Herman, T.E.

1985-01-01

An abnormality which has received little attention but may be easily recognized on radiographs of the hand of patients with Turner's syndrome is described. Eleven of thirty-one patients (35.5%) with Turner's syndrome were shown on radiographs of the hand to have a visually detectable smallness of the bone surface area of the carpus when compared to the area of the second through fifth metacarpals. Values for the ''C/M'' ratio (the area of the carpals divided by the area of the second through fifth metacarpals) were calculated for films of 31 individuals with gonadal dysgenesis and compared with those from bone age-matched films of seventy-six individuals with normal development of the hand and wrist. A consistent difference with minimal overlap was documented. (orig./WL)

Amelogenesis Imperfecta with Distal Renal Tubular Acidosis: A Novel Syndrome?

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Misgar, R A; Hassan, Z; Wani, A I; Bashir, M I

2017-01-01

Amelogenesis imperfecta (AI) is a heterogeneous group of inherited dental enamel defects. It has rarely been reported in association with multiorgan syndromes and metabolic disorders. The metabolic disorders that have been reported in association with AI include hypocalciuria, impaired urinary concentrating ability, and Bartter-like syndrome. In literature, only three cases of AI and distal renal tubular acidosis (dRTA) have been described: two cases in adults and a solitary case in the pediatric age group. Here, we report a child with AI presenting with dRTA; to the best of our knowledge, our reported case is the only second such case in pediatric age group. Our case highlights the importance of recognizing the possibility of renal abnormalities in patients with AI as it will affect the long-term prognosis.

Amelogenesis imperfecta with distal renal tubular acidosis: A novel syndrome?

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R A Misgar

2017-01-01

Full Text Available Amelogenesis imperfecta (AI is a heterogeneous group of inherited dental enamel defects. It has rarely been reported in association with multiorgan syndromes and metabolic disorders. The metabolic disorders that have been reported in association with AI include hypocalciuria, impaired urinary concentrating ability, and Bartter-like syndrome. In literature, only three cases of AI and distal renal tubular acidosis (dRTA have been described: two cases in adults and a solitary case in the pediatric age group. Here, we report a child with AI presenting with dRTA; to the best of our knowledge, our reported case is the only second such case in pediatric age group. Our case highlights the importance of recognizing the possibility of renal abnormalities in patients with AI as it will affect the long-term prognosis.

[Orbital compartment syndrome. The most frequent cause of blindness following facial trauma].

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Klenk, Gusztáv; Katona, József; Kenderfi, Gábor; Lestyán, János; Gombos, Katalin; Hirschberg, Andor

2017-09-01

Although orbital compartment syndrome is a rare condition, it is still the most common cause of blindness following simple or complicated facial fractures. Its pathomechanism is similar to the compartment syndrome in the limb. Little extra fluid (blood, oedema, brain, foreign body) in a non-space yielding space results with increasingly higher pressures within a short period of time. Unless urgent surgical intervention is performed the blocked circulation of the central retinal artery will result irreversible ophthalmic nerve damage and blindness. Aim, material and method: A retrospective analysis of ten years, 2007-2017, in our hospital among those patients referred to us with facial-head trauma combined with blindness. 571 patients had fractures involving the orbit. 23 patients become blind from different reasons. The most common cause was orbital compartment syndrome in 17 patients; all had retrobulbar haematomas as well. 6 patients with retrobulbar haematoma did not develop compartment syndrome. Compartment syndrome was found among patient with extensive and minimal fractures such as with large and minimal haematomas. Early lateral canthotomy and decompression saved 7 patients from blindness. We can not predict and do not know why some patients develop orbital compartment syndrome. Compartment syndrome seems independent from fracture mechanism, comminution, dislocation, amount of orbital bleeding. All patients are in potential risk with midface fractures. We have a high suspicion that orbital compartment syndrome has been somehow missed out in the recommended textbooks of our medical universities and in the postgraduate trainings. Thus compartment syndrome is not recognized. Teaching, training and early surgical decompression is the only solution to save the blind eye. Orv Hetil. 2017; 158(36): 1410-1420.

[Dropped head syndrome as first manifestation of primary hyperparathyroid myopathy].

Science.gov (United States)

Ota, Kiyobumi; Koseki, Sayo; Ikegami, Kenji; Onishi, Iichiroh; Tomimitsu, Hiyoryuki; Shintani, Shuzo

2018-03-28

75 years old woman presented with 6-month history of progressive dropped head syndrome. Neurological examination revealed moderate weakness of flexor and extensor of neck and mild weakness of proximal appendicular muscles with normal deep tendon reflexes. The needle electromyography showed short duration and low amplitude motor unit potential. No fibrillation potentials or positive sharp waves were seen. Biopsy of deltoid muscle was normal. Laboratory studies showed elevated levels of serum calcium (11.8 mg/dl, upper limit of normal 10.1) and intact parathyroid hormone (104 pg/ml, upper limit of normal 65), and decreased level of serum phosphorus (2.3 mg/dl, lower limit of normal 2.7). Ultrasonography and enhanced computed tomography revealed a parathyroid tumor. The tumor was removed surgically. Pathological examination proved tumor to be parathyroid adenoma. Dropped head and weakness of muscles were dramatically improved within a week after the operation. Although hyperparathyroidism is a rare cause of dropped head syndrome, neurologists must recognize hyperparathyroidism as a treatable cause of dropped head syndrome.

Role of dental physician in Marfan syndrome

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Anusha Rangare Lakshman

2015-01-01

Full Text Available Marfan syndrome (MFS is a variable, autosomal dominant disorder of connective tissue whose cardinal features affect the cardiovascular system, eyes, and skeleton. The patient′s prognosis depends on the severity of cardiovascular complications and is mainly determined by progressive dilation of the aorta. If signs of MFS are recognized, it is important to refer to the correct health care professional for further testing to prevent associated complications. Hereby, we report a case of MFS who was unaware about the cardiac manifestations, thereby emphasizing the importance in identifying this potentially life-threatening condition in dental practice.

Immune Cells in Blood Recognize Tumors

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NCI scientists have developed a novel strategy for identifying immune cells circulating in the blood that recognize specific proteins on tumor cells, a finding they believe may have potential implications for immune-based therapies.

Prevalence of Tourette Syndrome and Chronic Tics in the Population-Based Avon Longitudinal Study of Parents and Children Cohort

Science.gov (United States)

Scharf, Jeremiah M.; Miller, Laura L.; Mathews, Carol A.; Ben-Shlomo, Yoav

2012-01-01

Objective: Recent epidemiologic studies have demonstrated that Tourette syndrome (TS) and chronic tic disorder (CT) are more common than previously recognized. However, few population-based studies have examined the prevalence of co-occurring neuropsychiatric conditions such as obsessive-compulsive disorder (OCD) and…

Violence: heightened brain attentional network response is selectively muted in Down syndrome.

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Anderson, Jeffrey S; Treiman, Scott M; Ferguson, Michael A; Nielsen, Jared A; Edgin, Jamie O; Dai, Li; Gerig, Guido; Korenberg, Julie R

2015-01-01

The ability to recognize and respond appropriately to threat is critical to survival, and the neural substrates subserving attention to threat may be probed using depictions of media violence. Whether neural responses to potential threat differ in Down syndrome is not known. We performed functional MRI scans of 15 adolescent and adult Down syndrome and 14 typically developing individuals, group matched by age and gender, during 50 min of passive cartoon viewing. Brain activation to auditory and visual features, violence, and presence of the protagonist and antagonist were compared across cartoon segments. fMRI signal from the brain's dorsal attention network was compared to thematic and violent events within the cartoons between Down syndrome and control samples. We found that in typical development, the brain's dorsal attention network was most active during violent scenes in the cartoons and that this was significantly and specifically reduced in Down syndrome. When the antagonist was on screen, there was significantly less activation in the left medial temporal lobe of individuals with Down syndrome. As scenes represented greater relative threat, the disparity between attentional brain activation in Down syndrome and control individuals increased. There was a reduction in the temporal autocorrelation of the dorsal attention network, consistent with a shortened attention span in Down syndrome. Individuals with Down syndrome exhibited significantly reduced activation in primary sensory cortices, and such perceptual impairments may constrain their ability to respond to more complex social cues such as violence. These findings may indicate a relative deficit in emotive perception of violence in Down syndrome, possibly mediated by impaired sensory perception and hypoactivation of medial temporal structures in response to threats, with relative preservation of activity in pro-social brain regions. These findings indicate that specific genetic differences associated

Significantly lengthened telomere in granulosa cells from women with polycystic ovarian syndrome (PCOS).

Science.gov (United States)

Wei, Duo; Xie, Juanke; Yin, Baoli; Hao, Haoying; Song, Xiaobing; Liu, Qi; Zhang, Cuilian; Sun, Yingpu

2017-07-01

Polycystic ovary syndrome (PCOS) is the most common endocrinopathy among women at reproductive age. However, its etiology remains poorly understood. Recent studies indicated that telomere length was related to PCOS. However, the association between telomere length and PCOS has only been shown in leucocytes and remained controversial across different studies. To clarify the association between telomere length and PCOS, the current study interrogated telomere length not only in leucocytes, but also in follicular granulosa cells, which is essential for folliculogenesis and steroidogenesis. Seventy-five patients with PCOS and 81 controls with mechanical infertility undergoing their first in vitro fertilization cycle were enrolled. Their peripheral blood and granulosa cells were collected on the oocyte retrieval day. Telomere length of both leucocytes in the blood and granulosa cells was assayed by quantitative polymerase chain reaction. No significant difference was found in the leucocyte telomere length between controls and PCOS patients (0.99 ± 0.44 vs. 1.00 ± 0.38, p = 0.93). Interestingly, when comparing telomere length in granulosa cells between controls and PCOS subjects, significantly lengthened telomere length was found in PCOS subjects (1.00 ± 0.37 vs. 1.57±0.67, p < 0.0001). After adjustments for age and body mass index, the p value remained significant (p < 0.0001). This finding reinforced the association between telomere abnormalities and PCOS. Given the importance of telomere length in cellular proliferation, our findings provided novel insights into the pathophysiology of PCOS that abnormalities in telomere length possibly disturb folliculogenesis and subsequently result in PCOS.

A SMARCA2 Mutation in the First Case Report of Nicolaides-Baraitser Syndrome in Latin America: Genotype-Phenotype Correlation

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Ana Isabel Sánchez

2017-01-01

Full Text Available Nicolaides-Baraitser syndrome (NCBRS is a rare and well-recognized entity that was first described in 1993, with a prevalence that is currently not known. It is recognized as a distinctive entity, with some variability in its signs and symptoms. The most important characteristics include intellectual disability, peculiar facial features including sparse scalp hair, coarse facial features, low frontal hairline, and microcephaly, and seizures. Additional features may include epicanthic folds, thin upper lip vermilion with thick lower lip vermilion, skeletal abnormalities, and severe language impairment. The disorder is inherited in an autosomal dominant manner caused by de novo mutations in the SMARCA2 gene, with most being missense mutations. We report a young adult patient with NCBRS and, to our knowledge, the first case report of the syndrome in Latin America with a confirmed molecular diagnosis and a mild-to-moderate phenotype.

Circulating matrix gamma-carboxyglutamate protein (MGP) species are refractory to vitamin K treatment in a new case of Keutel syndrome

NARCIS (Netherlands)

Cranenburg, E. C. M.; van Spaendonck-Zwarts, K. Y.; Bonafe, L.; Crettol, L. Mittaz; Rodiger, L. A.; Dikkers, F. G.; van Essen, A. J.; Superti-Furga, A.; Alexandrakis, E.; Vermeer, C.; Schurgers, L. J.; Laverman, G. D.

Background and objectives: Matrix gamma-carboxyglutamate protein (MGP), a vitamin K-dependent protein, is recognized as a potent local inhibitor of vascular calcification. Studying patients with Keutel syndrome (KS), a rare autosomal recessive disorder resulting from MGP mutations, provides an

Circulating matrix gamma-carboxyglutamate protein (MGP) species are refractory to vitamin K treatment in a new case of Keutel syndrome

NARCIS (Netherlands)

Cranenburg, E. C. M.; van Spaendonck-Zwarts, K. Y.; Bonafe, L.; Mittaz Crettol, L.; Rödiger, L. A.; Dikkers, F. G.; van Essen, A. J.; Superti-Furga, A.; Alexandrakis, E.; Vermeer, C.; Schurgers, L. J.; Laverman, G. D.

2011-01-01

Background and objectives: Matrix gamma-carboxyglutamate protein (MGP), a vitamin K-dependent protein, is recognized as a potent local inhibitor of vascular calcification. Studying patients with Keutel syndrome (KS), a rare autosomal recessive disorder resulting from MGP mutations, provides an

Non-infectious chemotherapy-associated acute toxicities during childhood acute lymphoblastic leukemia therapy

DEFF Research Database (Denmark)

Schmiegelow, Kjeld; Müller, Klaus Gottlob; Mogensen, Signe Sloth

2017-01-01

During chemotherapy for childhood acute lymphoblastic leukemia, all organs can be affected by severe acute side effects, the most common being opportunistic infections, mucositis, central or peripheral neuropathy (or both), bone toxicities (including osteonecrosis), thromboembolism, sinusoidal...... useful risk factors, and across study groups there has been wide diversity in toxicity definitions, capture strategies, and reporting, thus hampering meaningful comparisons of toxicity incidences for different leukemia protocols. Since treatment of acute lymphoblastic leukemia now yields 5-year overall...... obstruction syndrome, endocrinopathies (especially steroid-induced adrenal insufficiency and hyperglycemia), high-dose methotrexate-induced nephrotoxicity, asparaginase-associated hypersensitivity, pancreatitis, and hyperlipidemia. Few of the non-infectious acute toxicities are associated with clinically...

Aspectos de interés sobre el síndrome de silla turca vacía en los niños: a propósito de 5 pacientes Aspects of interest on the empty sella syndrome in children: apropos of 5 patients

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Pedro González Fernández

2008-06-01

Full Text Available Se presentan 5 pacientes menores de 12 años, atendidos en el Servicio de Endocrinología del Hospital Pediátrico Docente «William Soler» a quienes se les realizó un estudio imagenológico con tomografía axial computada y resonancia magnética nuclear, para confirmar diagnóstico de endocrinopatía. Tras el estudio se diagnosticó síndrome de la silla turca vacía. Existen diferencias clínicas entre niños y adultos con silla turca vacía; las más relevantes radican en que en los niños no hay predominio de sexo ni asociación con la obesidad, y en ellos se observa la presencia de afecciones endocrinas como expresión de alteraciones hipotálamo-hipofisarias.The cases of 5 patients under 12 that received attention at the Endocrinology Service of "William Soler" Pediatric Teaching Hospital and that underwent an imaging study with computerized axial tomography and nuclear magnetic imaging to confirm endocrinopathy were presented. The empty sella syndrome was diagnosed after concluding the study. Clinical differences were observed between children and adults with empty sella syndrome. The most significant were found in children, among whom there was neither predominance of sex nor association with obesity. The presence of endocrine affections as expression of hypothalamus-hypophyseal alterations was observed in them.

Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11.

Science.gov (United States)

Kimberling, W J; Möller, C G; Davenport, S; Priluck, I A; Beighton, P H; Greenberg, J; Reardon, W; Weston, M D; Kenyon, J B; Grunkemeyer, J A

1992-12-01

Usher syndrome is the most commonly recognized cause of combined visual and hearing loss in technologically developed countries. There are several different types and all are inherited in an autosomal recessive manner. There may be as many as five different genes responsible for at least two closely related phenotypes. The nature of the gene defects is unknown, and positional cloning strategies are being employed to identify the genes. This is a report of the localization of one gene for Usher syndrome type I to chromosome 11q, probably distal to marker D11S527. Another USH1 gene had been previously localized to chromosome 14q, and this second localization establishes the existence of a new and independent locus for Usher syndrome.

Fatty Liver Index and Lipid Accumulation Product Can Predict Metabolic Syndrome in Subjects without Fatty Liver Disease

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Yuan-Lung Cheng

2017-01-01

Full Text Available Background. Fatty liver index (FLI and lipid accumulation product (LAP are indexes originally designed to assess the risk of fatty liver and cardiovascular disease, respectively. Both indexes have been proven to be reliable markers of subsequent metabolic syndrome; however, their ability to predict metabolic syndrome in subjects without fatty liver disease has not been clarified. Methods. We enrolled consecutive subjects who received health check-up services at Taipei Veterans General Hospital from 2002 to 2009. Fatty liver disease was diagnosed by abdominal ultrasonography. The ability of the FLI and LAP to predict metabolic syndrome was assessed by analyzing the area under the receiver operating characteristic (AUROC curve. Results. Male sex was strongly associated with metabolic syndrome, and the LAP and FLI were better than other variables to predict metabolic syndrome among the 29,797 subjects. Both indexes were also better than other variables to detect metabolic syndrome in subjects without fatty liver disease (AUROC: 0.871 and 0.879, resp., and the predictive power was greater among women. Conclusion. Metabolic syndrome increases the cardiovascular disease risk. The FLI and LAP could be used to recognize the syndrome in both subjects with and without fatty liver disease who require lifestyle modifications and counseling.

Sustained response to weekly vinblastine in 2 children with pilomyxoid astrocytoma associated with diencephalic syndrome.

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Singh, Gurpreet; Wei, Xing Chang; Hader, Walter; Chan, Jennifer A; Bouffet, Eric; Lafay-Cousin, Lucie

2013-03-01

Diencephalic syndrome (DS) related to hypothalamic/chiasmatic region tumor has mainly been reported with low-grade glioma. We described 2 young children with DS related to pilomyxoid astrocytoma. Despite the recognized more agressive clinical behavior of this histologic subtype, we report successful resolution of DS and sustained tumor response with prolonged use of single-agent vinblastine.

Metabolic syndrome and benign prostatic hyperplasia: An update

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Ho-Yin Ngai

2017-07-01

Full Text Available Metabolic syndrome (MetS is a cluster of metabolic abnormalities related to central adiposity and insulin resistance. Its importance is increasingly recognized as it associates with increased risks of metabolic and cardiovascular diseases. These metabolic aberrations of MetS may lead to development of benign prostatic hyperplasia (BPH and lower urinary tract symptoms (LUTS in men. A 26.5%–55.6% prevalence of MetS in men with LUTS was reported in worldwide studies. Although the exact biological pathway is not clear yet, insulin resistance, increased visceral adiposity, sex hormone alterations and cellular inflammatory reactions played significant roles in the related pathophysiological processes. Clinician should recognize the cardiovascular and metabolic impacts of MetS in men with LUTS, early risk factors optimization and use of appropriate medical therapy may possibly alter or slower the progression of LUTS/BPH, and potentially avoid unnecessary morbidities and mortalities from cardiovascular and metabolic diseases for those men.

[Neuropsychological subtypes of the inattention and hyperactivity syndrome].

Science.gov (United States)

Etchepareborda, M C

1999-02-01

One of the commonest neurological development disorders is the syndrome of inattention with hyperactivity, ADHD. The complex neurobiological network which intervenes in paying attention permits us to maintain a basal state of alertness, to focalize and maintain attention for long periods, select the stimulus-signal required and analyze its components, and also to simultaneously carry out processes of input-output and performance (tutorial, controlling). Damage to the various systems participating in 'paying attention' leads to a syndrome of inattention, with or without hyperactivity. The distinction into clinical sub-types (combined, mainly lacking attention or mainly hyperactive and impulsive) gives a primary differentiation of the syndrome. However, from the neuropsychological point of view, some degree of heterogeneity within the groups which defines academic behaviour and conduct may also be recognized. This type of study permits a more specific neuro-cognitive and pharmacological approach. Some clinical characteristics of the syndrome of inattention improve with different drugs, such as the state of alterness (methylphenidate), impulsivity (pipamperone) and selective attention (tiapride). However, this treatment is symptomatic and in most cases is useful to accompany the ultimate biological development of the neocortical control mechanisms. A neuro-cognitive approach which permits acquisition of habits of control, functional strategies, sequential planning of activities and per- and post-functional surveillance is fundamental. The EFE programme for training executive functions is directed towards working with the damaged processing mechanisms in each neuropsychological subtype.

Association of polycystic ovary syndrome and Graves′ disease: Is autoimmunity the link between the two diseases

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Sobia Nisar

2012-01-01

Full Text Available Introduction: Polycystic ovary syndrome (PCOS is a common endocrinopathy of women of child-bearing age. Although some studies have suggested an association between PCOS and autoimmune thyroiditis, to our knowledge, only a few cases indicating association between PCOS and Graves′ disease are reported. Objective: We aim to describe this first case series of six women presenting with PCOS and Graves′ disease together. Materials and Methods: Women attending the endocrinology clinic at a tertiary care centre in north India and fulfilling the AE-PCOS criteria for diagnosis of PCOS were studied using a predefined proforma for any clinical, biochemical and imaging features of Graves′ disease. Results: The series consisted of six women with a mean age of 27.5 years and menarche as 12.6 years. All women were lean with mean BMI of 22.73 kg / m 2 and three out of six had waist circumference <80 cm. The mean FG score of subjects was 16.66 and average total testosterone was 77.02 ng / dl (25.0-119.64. All the patients had suppressed TSH, the average being 0.052 μIU/ml (0.01-0.15. Thyroid gland was enlarged in all clinically and on ultrasonography and imaging with 99m Tc and/or RAIU revealed diffuse increased uptake. Conclusions: The association of a rare disorder like Graves′ disease with a relatively common disorder like PCOS is unlikely to be because of a chance alone and may point to a common aetiopathogenic linkage leaving a scope for molecular characterization.

Nurses and burnout syndrome

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Zarema Obradović

2013-04-01

Full Text Available Introduction: The work of nurses is human. They help people in protection against diseases. Nurses are the largest group of health workers and all problems that appear in the health system are first recognized among them. Burnout syndrome appears among nurses very frequently. We present the leading factors for burnout among nurses in RMC „Dr Safet Mujic“ in Mostar, Bosnia and Herzegovina.Methods: It is a cross sectional descriptive study. We used an anonymous questionnaire with 20 questions. Our sample was random with 30% of all nurses which were working in this Medical Center in January-February 2012.Results: In our study 77.9% nurses work in the hospital. 52% have over 16 years of work experience. 34.6% of examinees are satisfi ed with interpersonal relationships, 31.7 % are satisfi ed with relationships with the superior. Motivation for work have 51% of examinees, a big number comes unwilling on work.For 83.7% overtime work is the reason for dissatisfaction 71.2% examinees think that they can't make progress on work. A high percentage of examinees doesn't think about problems related to work outside working hours, a good sleep have 38.5% and 56.7% wakes up tired. Many of examinees are not satisfiedwith workplace, and 58.7% would like to change it.Conclusion: Nurses employed in RMC „Dr Safet Mujic“ Mostar are exposed to many factors during work which can cause the burnout syndrome. It is necessary to expand the study on a larger group of nurses and to implement the measures for reducing risks of burnout syndrome.

Understanding Bartter syndrome and Gitelman syndrome.

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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.

Recognizing Textual Entailment: Challenges in the Portuguese Language

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Gil Rocha

2018-03-01

Full Text Available Recognizing textual entailment comprises the task of determining semantic entailment relations between text fragments. A text fragment entails another text fragment if, from the meaning of the former, one can infer the meaning of the latter. If such relation is bidirectional, then we are in the presence of a paraphrase. Automatically recognizing textual entailment relations captures major semantic inference needs in several natural language processing (NLP applications. As in many NLP tasks, textual entailment corpora for English abound, while the same is not true for more resource-scarce languages such as Portuguese. Exploiting what seems to be the only Portuguese corpus for textual entailment and paraphrases (the ASSIN corpus, in this paper, we address the task of automatically recognizing textual entailment (RTE and paraphrases from text written in the Portuguese language, by employing supervised machine learning techniques. We employ lexical, syntactic and semantic features, and analyze the impact of using semantic-based approaches in the performance of the system. We then try to take advantage of the bi-dialect nature of ASSIN to compensate its limited size. With the same aim, we explore modeling the task of recognizing textual entailment and paraphrases as a binary classification problem by considering the bidirectional nature of paraphrases as entailment relationships. Addressing the task as a multi-class classification problem, we achieve results in line with the winner of the ASSIN Challenge. In addition, we conclude that semantic-based approaches are promising in this task, and that combining data from European and Brazilian Portuguese is less straightforward than it may initially seem. The binary classification modeling of the problem does not seem to bring advantages to the original multi-class model, despite the outstanding results obtained by the binary classifier for recognizing textual entailments.

Mediators of low-grade chronic inflammation in polycystic ovary syndrome (PCOS).

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Ojeda-Ojeda, Miriam; Murri, Mora; Insenser, María; Escobar-Morreale, Héctor F

2013-01-01

Chronic low-grade subclinical inflammation has been increasingly recognized as an interposer in the endocrine, metabolic and reproductive disturbances that characterize the polycystic ovary syndrome (PCOS). Abdominal adiposity and obesity are often present in PCOS. Mounting evidence indicates that adipose tissue is involved in innate and adaptive immune responses. Continuous release of inflammatory mediators such as cytokines, acute phase proteins, and adipokines perpetuates the inflammatory condition associated with obesity in women with PCOS, possibly contributing to insulin resistance and other long-term cardiometabolic risk factors. Genetic variants in the genes encoding inflammation-related mediators underlie the development of PCOS and their interaction with environmental factors may contribute to the heterogeneous clinical phenotype of this syndrome. In the future, strategies ameliorating inflammation may prove useful for the management of PCOS and associated conditions.

Burnout syndrome among undergraduate nursing students at a public university.

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

2014-01-01

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

Critical epitopes in the nucleocapsid protein of SFTS virus recognized by a panel of SFTS patients derived human monoclonal antibodies.

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Li Yu

Full Text Available BACKGROUND: SFTS virus (SFTSV is a newly discovered pathogen to cause severe fever with thrombocytopenia syndrome (SFTS in human. Successful control of SFTSV epidemic requires better understanding of the antigen target in humoral immune responses to the new bunyavirus infection. METHODOLOGY/PRINCIPAL FINDINGS: We have generated a combinatorial Fab antibody phage library from two SFTS patients recovered from SFTSV infection. To date, 94 unique human antibodies have been generated and characterized from over 1200 Fab antibody clones obtained by screening the library with SFTS purified virions. All those monoclonal antibodies (MAbs recognized the nucleocapsid (N protein of SFTSV while none of them were reactive to the viral glycoproteins Gn or Gc. Furthermore, over screening 1000 mouse monoclonal antibody clones derived from SFTSV virions immunization, 462 clones reacted with N protein, while only 16 clones were reactive to glycoprotein. Furthermore, epitope mapping of SFTSV N protein was performed through molecular simulation, site mutation and competitive ELISA, and we found that at least 4 distinct antigenic epitopes within N protein were recognized by those human and mouse MAbs, in particular mutation of Glu10 to Ala10 abolished or significantly reduced the binding activity of nearly most SFTS patients derived MAbs. CONCLUSIONS/SIGNIFICANCE: The large number of human recombinant MAbs derived from SFTS patients recognized the viral N protein indicated the important role of the N protein in humoral responses to SFTSV infection, and the critical epitopes we defined in this study provided molecular basis for detection and diagnosis of SFTSV infection.

Identification, recognition and misidentification syndromes. A psychoanalytical perspective.

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Stéphane eThibierge

2013-11-01

Full Text Available Misidentification syndromes are currently often understood as cognitive disorders of either the sense of uniqueness (Margariti & Kontaxakis, 2006 or the recognition of people (Ellis, Lewis, 2001. It is however necessary to consider how a normal sense of uniqueness or a normal people recognition are acquired by normal or neurotic subjects. It will be shown here that the normal conditions of cognition can be considered as one of the possible forms of a complex structure and not as just a setting for our sense and perception data. The consistency and the permanency of the body image in neurosis is what permits that we recognize other people and ourselves as unique beings. These consistency and permanency are related to object repression, as shown by neurological disorders of body image (somatoparaphrenia, which cause the object to come to the foreground in the patient’s words (Thibierge and Morin, 2010. In misidentification syndromes, as in other psychotic syndromes, one can also observe a damage of the specular image as well as an absence of object repression. This leads us to question whether, in the psychiatric disorders related to a damaged specular image, cognition disorders can be studied and managed using the same methods as for neurotic patients.

Burnout: Recognize and Reverse.

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Anne, Samantha

2014-07-01

Physician burnout may be underrecognized and can cause significant detrimental effects on personal health and job satisfaction. Burnout has been associated with medical errors, alcohol and drug abuse, and neglect and abandonment of career goals. With self-awareness, development of coping mechanisms, and the adoption of a strong social and professional support network, burnout can be combated. This article focuses on recognizing characteristics of burnout and providing strategies to cope to avoid reaching a high degree of burnout. © American Academy of Otolaryngology—Head and Neck Surgery Foundation 2014.

Neuro-behavioral profile and brain imaging study of the 22q13.3 deletion syndrome in childhood

International Nuclear Information System (INIS)

Philippe, A.; Malan, V.; De Blois, M.C.; Colleaux, L.; Munnich, A.; Philippe, A.; De Blois, M.C.; Colleaux, L.; Munnich, A.; Boddaert, N.; Vaivre-Douret, L.; Robel, L.; Golse, B.; Vaivre-Douret, L.; Vaivre-Douret, L.; Danon-Boileau, L.; Heron, D.

2008-01-01

The 22q13.3 deletion syndrome (Online Mendelian Inheritance in Man No. 606232) is a neuro-developmental disorder that includes hypotonia, severely impaired development of speech and language, autistic-like behavior, and minor dysmorphic features. Although the number of reported cases is increasing, the 22q13.3 deletion remains under-diagnosed because of failure in recognizing the clinical phenotype and detecting the 22qter deletion by routine chromosome analyses. Our goal is to contribute to the description of the neuro-behavioral phenotype and brain abnormalities of this micro-deletional syndrome. We assessed neuro-motor, sensory, language, communication, and social development and performed cerebral MRI and study of regional cerebral blood flow measured by positron emission tomography in 8 children carrying the 22q13.3 deletion. Despite variability in expression and severity, the children shared a common developmental profile characterized by hypotonia, sleep disorders, and poor response to their environment in early infancy; expressive language deficit contrasting with emergence of social reciprocity from ages similar to 3 to 5 years; sensory processing dysfunction; and neuro-motor disorders. Brain MRI findings were normal or showed a thin or morphologically atypical corpus callosum. Positron emission tomography study detected a localized dysfunction of the left temporal polar lobe and amygdala hypoperfusion. The developmental course of the 22q13.3 deletion syndrome belongs to pervasive developmental disorders but is distinct from autism. An improved description of the natural history of this syndrome should help in recognizing this largely under-diagnosed condition. (authors)

Neuro-behavioral profile and brain imaging study of the 22q13.3 deletion syndrome in childhood

Energy Technology Data Exchange (ETDEWEB)

Philippe, A; Malan, V; De Blois, M C; Colleaux, L; Munnich, A [Hop Necker Enfants Malad, Assistance Publ Hop Paris, Natl Inst Hlth and Med Res, Paris (France); Philippe, A; De Blois, M C; Colleaux, L; Munnich, A [HopNecker Enfants Malad, Assistance Publ Hop Paris, Dept Genet, Paris (France); Boddaert, N [Natl Inst Hlth and Med Res, Mixed Unit Res 0205, Orsay (France); Vaivre-Douret, L; Robel, L; Golse, B [Hop Necker Enfants Malad, Assistance Publ Hop Paris, Dept Psychiat, Paris (France); Vaivre-Douret, L [Univ Paris 10, Mixed Unit Res S0669, Univ Paris 05, Univ Paris 11, Paris 10 (France); Vaivre-Douret, L [Assistance Publ Hop Paris, Dept Obstet et Gynaecol, Paris (France); Danon-Boileau, L [Natl Ctr Sci Res, Mixed Unit Res 7114, Paris (France); Heron, D [Hop La Pitie Salpetriere, Assistance Publ HopParis, Dept Genet, Paris (France)

2008-07-01

The 22q13.3 deletion syndrome (Online Mendelian Inheritance in Man No. 606232) is a neuro-developmental disorder that includes hypotonia, severely impaired development of speech and language, autistic-like behavior, and minor dysmorphic features. Although the number of reported cases is increasing, the 22q13.3 deletion remains under-diagnosed because of failure in recognizing the clinical phenotype and detecting the 22qter deletion by routine chromosome analyses. Our goal is to contribute to the description of the neuro-behavioral phenotype and brain abnormalities of this micro-deletional syndrome. We assessed neuro-motor, sensory, language, communication, and social development and performed cerebral MRI and study of regional cerebral blood flow measured by positron emission tomography in 8 children carrying the 22q13.3 deletion. Despite variability in expression and severity, the children shared a common developmental profile characterized by hypotonia, sleep disorders, and poor response to their environment in early infancy; expressive language deficit contrasting with emergence of social reciprocity from ages similar to 3 to 5 years; sensory processing dysfunction; and neuro-motor disorders. Brain MRI findings were normal or showed a thin or morphologically atypical corpus callosum. Positron emission tomography study detected a localized dysfunction of the left temporal polar lobe and amygdala hypoperfusion. The developmental course of the 22q13.3 deletion syndrome belongs to pervasive developmental disorders but is distinct from autism. An improved description of the natural history of this syndrome should help in recognizing this largely under-diagnosed condition. (authors)

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.

Impostor syndrome and burnout among American medical students: a pilot study

OpenAIRE

Villwock, Jennifer A.; Sobin, Lindsay B.; Koester, Lindsey A.; Harris, Tucker M.

2016-01-01

Objectives To describe levels of burnout and impostor syndrome (IS) in medical students, and to recognize demographic differences in those experiencing burnout and IS. Methods Research participants included 2,612 medical students who entered Jefferson Medical College between 2002 and 2012. This sample was divided into two groups: Matriculants between 2002 and 2007 (n=1,380) and between 2008 and 2012 (n=1,232). Data for 2002-2007 matriculants were subjected to EFA (principal component factor e...

Efficacy and safety of metformin or oral contraceptives, or both in polycystic ovary syndrome

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Yang YM

2015-09-01

Full Text Available Young-Mo Yang, Eun Joo Choi College of Pharmacy, Chosun University, Gwangju, South Korea Background: Polycystic ovary syndrome (PCOS is an endocrinopathy that affects approximately 10% of reproductive-aged women throughout their lives. Women with PCOS present with heterogeneous symptoms including ovulatory dysfunction, hyperandrogenism, and polycystic ovaries. Therefore, lifelong individualized management should be considered. Pharmacological agents commonly used to manage the symptoms are metformin and oral contraceptive pills. Although these medications have been beneficial in treating PCOS symptoms, their efficacy and safety are still not entirely elucidated. This study aimed to report the efficacy and safety of metformin, oral contraceptives, or their combination in the treatment of PCOS and to define their specific individual roles.Methods: A literature search of original studies published in PubMed and Scopus was conducted to identify studies comparing metformin with oral contraceptives or evaluating the combination of both in PCOS.  Results: Eight clinical trials involving 313 patients were examined in the review. The intervention dosage of metformin ranged from 1,000 to 2,000 mg/d and that of oral contraceptives was ethinylestradiol 35 µg and cyproterone acetate 2 mg. Lower body mass index was observed with regimens including metformin, but increased body mass index was observed in monotherapy with oral contraceptives. Administration of metformin or oral contraceptives, especially as monotherapy, had a negative effect on lipid profiles. In addition, there are still uncertainties surrounding the effects of metformin or oral contraceptives in the management of insulin level, although they improved total testosterone and sex hormone-binding globulin levels. In the included studies, significant side effects due to metformin or oral contraceptives were not reported.  Conclusion: The clinical trials suggest that metformin or oral

Embodying Emotional Disorders: New Hypotheses about Possible Emotional Consequences of Motor Disorders in Parkinson's Disease and Tourette's Syndrome.

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Mermillod, Martial; Vermeulen, Nicolas; Droit-Volet, Sylvie; Jalenques, Isabelle; Durif, Franck; Niedenthal, Paula

2011-01-01

Parkinson's disease (PD) and Tourette's syndrome (TS) lead to important motor disorders among patients such as possible facial amimia in PD and tics in Tourette's syndrome. Under the grounded cognition framework that shows the importance of motor embodiment in emotional feeling (Niedenthal, 2007), both types of pathology with motor symptoms should be sufficient to induce potential impairments for these patients when recognizing emotional facial expressions (EFE). In this opinion paper, we describe a theoretical framework that assumes potential emotional disorders in Parkinson's disease and Tourette's syndrome based on motor disorders characterizing these two pathologies. We also review different methodological barriers in previous experimental designs that could enable the identification of emotional facial expressions despite emotional disorders in PD and TS.

Drawing and Recognizing Chinese Characters with Recurrent Neural Network.

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Zhang, Xu-Yao; Yin, Fei; Zhang, Yan-Ming; Liu, Cheng-Lin; Bengio, Yoshua

2018-04-01

Recent deep learning based approaches have achieved great success on handwriting recognition. Chinese characters are among the most widely adopted writing systems in the world. Previous research has mainly focused on recognizing handwritten Chinese characters. However, recognition is only one aspect for understanding a language, another challenging and interesting task is to teach a machine to automatically write (pictographic) Chinese characters. In this paper, we propose a framework by using the recurrent neural network (RNN) as both a discriminative model for recognizing Chinese characters and a generative model for drawing (generating) Chinese characters. To recognize Chinese characters, previous methods usually adopt the convolutional neural network (CNN) models which require transforming the online handwriting trajectory into image-like representations. Instead, our RNN based approach is an end-to-end system which directly deals with the sequential structure and does not require any domain-specific knowledge. With the RNN system (combining an LSTM and GRU), state-of-the-art performance can be achieved on the ICDAR-2013 competition database. Furthermore, under the RNN framework, a conditional generative model with character embedding is proposed for automatically drawing recognizable Chinese characters. The generated characters (in vector format) are human-readable and also can be recognized by the discriminative RNN model with high accuracy. Experimental results verify the effectiveness of using RNNs as both generative and discriminative models for the tasks of drawing and recognizing Chinese characters.

Recognizing Variable Environments The Theory of Cognitive Prism

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Dong, Tiansi

2012-01-01

Normal adults do not have any difficulty in recognizing their homes. But can artificial systems do in the same way as humans? This book collects interdisciplinary evidences and presents an answer from the perspective of computing, namely, the theory of cognitive prism. To recognize an environment, an intelligent system only needs to classify objects, structures them based on the connection relation (not through measuring!), subjectively orders the objects, and compares with the target environment, whose knowledge is similarly structured. The intelligent system works, therefore, like a prism: when a beam of light (a scene) reaches (is perceived) to an optical prism (by an intelligent system), some light (objects) is reflected (are neglected), those passed through (the recognized objects) are distorted (are ordered differently). So comes the term 'cognitive prism'! Two fundamental propositions used in the theory can be informally stated as follow: an orientation relation is a kind of distance comparison relatio...

Aging With Down Syndrome: The Dual Diagnosis: Alzheimer's Disease and Down Syndrome.

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Cipriani, Gabriele; Danti, Sabrina; Carlesi, Cecilia; Di Fiorino, Mario

2018-06-01

People with Down syndrome (DS) enjoy a longer life expectancy now than they ever have before and are therefore at greater risk of developing conditions associated with aging, including dementia. To explore the phenomenon of dementia in DS. Medline and Google Scholar searches were conducted for relevant articles, chapters, and books published until 2017. Search terms included Alzheimer's disease, cognitive impairment, dementia, DS, and trisomy 21. Publications found through this indexed search were reviewed for further references. Virtually, all subject aged 35 to 40 show key neuropathologic changes characteristic of Alzheimer's disease, but only a part of them show clinical signs of dementia, usually around the age of 50 years. Early signs of dementia in people with DS may be different from those experienced by the general population. Failure to recognize this can delay diagnosis and subsequent interventions.

Renal involvement in MELAS syndrome - a series of 5 cases and review of the literature.

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Seidowsky, Alexandre; Hoffmann, Maxime; Glowacki, François; Dhaenens, Claire-Marie; Devaux, Jean-Philippe; de Sainte Foy, Celia Lessore; Provot, François; Gheerbrant, Jean-Dominique; Hummel, Aurelie; Hazzan, Marc; Dracon, Michel; Dieux-Coeslier, Anne; Copin, Marie-Christine; Noël, Christian; Buob, David

2013-12-01

Renal dysfunction is increasingly recognized as a potential clinical feature of mitochondrial cytopathies such as mitochondrial encephalomyopathy, lacticacidosis and stroke-like episodes (MELAS) syndrome. Five cases of MELAS syndrome with renal involvement from 4 unrelated families are presented in this case series. Three of the 5 patients had a history of maternally-inherited diabetes and/or deafness. Focal and segmental glomerulosclerosis and arteriolar hyaline thickening were the most striking findings on renal biopsy. In addition to clinical presentation with the typical symptoms of MELAS syndrome, genetic testing in these patients identified the A3243G point mutation in the tRNALeu gene of the mitochondrial DNA (mtDNA). The diagnosis of MELAS syndrome was thus considered to be unequivocal. The incidence of kidney disease in MELAS syndrome may be underestimated although a study is required to investigate this hypothesis. As the A3243G mtDNA mutation leads to a progressive adult-onset form of focal segmental glomerulosclerosis (FSGS), screening for the MELAS A3243G mtDNA mutation should therefore be performed especially in patients with maternally-inherited diabetes or hearing loss presenting with FSGS.

Super-Memorizers Are Not Super-Recognizers

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Ramon, M.; Miellet, S.; Dzieciol, A.M.; Konrad, B.N; Dresler, M.; Caldara, R.

2016-01-01

Humans have a natural expertise in recognizing faces. However, the nature of the interaction between this critical visual biological skill and memory is yet unclear. Here, we had the unique opportunity to test two individuals who have had exceptional success in the World Memory Championships,

[Clinical application of moving cupping therapy based on skin reaction observation and syndrome differentiation].

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Deng, Xiao-Lan; Chen, Bo; Chen, Ze-Lin

2014-12-01

The diagnostic evidence on clinical diseases and theoretic basis of moving cupping therapy were ex- plored in the paper. By the observation of the local reaction, such as skin appearance and color, the affected location, duration of sickness and nature of disease were judged. Different moving cupping methods were selected for different disorders. It was discovered that the property of syndromes should be recognized by the palpation on skin and muscle in the moving cupping therapy so that the pathogenesis and treating principle could be carefully determined. The moving cupping therapy is the important component of body surface therapy. Skin reaction observation and syndrome differentiation is the essential guidance of the moving cupping therapy.

Sleeve gastrectomy to treat concomitant polycystyc ovary syndrome, insulin and leptin resistance in a 27-years morbidly obese woman unresponsive to insulin-sensitizing drugs: A 3-year follow-up

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Luigi Schiavo

2015-01-01

Conclusion: In the present report, SG was applied to resolve an intricate endocrinological framework confirming its therapeutic value not only in determining weight loss but also as endocrine/metabolic surgery able to treat multifactorial endocrinopathy. The underlying molecular mechanisms contributing to these benefits remain largely undetermined, despite offering tremendous potential to reveal new targets for therapeutic intervention, mostly in those patients unresponsive to classical pharmacotherapy.

Bloom's syndrome. VI. The disorder in Israel and an estimation of the gene frequency in the Ashkenazim.

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German, J; Bloom, D; Passarge, E; Fried, K; Goodman, R M; Katzenellenbogen, I; Laron, Z; Legum, C; Levin, S; Wahrman

1977-01-01

An effort was made to identify all individuals with Bloom's syndrome living in Israel between September 1971 and September 1972. Each of the eight individuals located were Jewish and could readily be classified Ashkenazic. The frequency of the Bloom's syndrome gene in Ashkenazim was estimated to be .0042 (minimum), implying a heterozygote frequency greater than 1 in 120. A striking distortion of the sex ratio (M/F = 7.0) may have been due to underascertainment of affected females. One of the affected individuals ascertained during the survey subsequently has died from cancer, which is in keeping with the recognized cancer proneness of this condition. Four of the affected have married, but no conception is known to have occurred, which suggests that sub- or infertility is a feature of the syndrome. PMID:930922

Burnout Syndrome: Global Medicine Volunteering as a Possible Treatment Strategy.

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Iserson, Kenneth V

2018-04-01

In the last few decades, "burnout syndrome" has become more common among clinicians, or at least more frequently recognized. Methods to prevent and treat burnout have had inconsistent results. Simultaneously, clinicians' interest in global medicine has increased dramatically, offering a possible intervention strategy for burnout while providing help to underserved areas. Caused by a variety of stressors, burnout syndrome ultimately results in physicians feeling that their work no longer embodies why they entered the medical field. This attitude harms clinicians, their patients and colleagues, and society. Few consistently successful interventions exist. At the same time, clinicians' interest in global medicine has risen exponentially. This paper reviews the basics of both phenomena and posits that global medicine experiences, although greatly assisting target populations, also may offer a strategy for combating burnout by reconnecting physicians with their love of the profession. Because studies have shown that regular volunteering improves mental health, short-term global medicine experiences may reinvigorate and reengage clinicians on the verge of, or suffering from, persistent burnout syndrome. Fortuitously, this intervention often will greatly benefit medically underserved populations. Copyright © 2018 Elsevier Inc. All rights reserved.

[Maxillofacial and dental abnormalities in some multiple abnormality syndromes. "Cri du chat" syndrome, Wilms' tumor-aniridia syndrome; Sotos syndrome; Goldenhar syndrome].

Science.gov (United States)

Berio, A; Trucchi, R; Meliota, M

1992-05-01

The paper describes the maxillo-facial and dental anomalies observed in some chromosome and non-chromosome poly-malformative syndromes ("Cri du chat" syndrome; Wilms' tumour; Sotos' syndrome; Goldenhar's syndrome). The Authors emphasise the possibility of diagnosing these multiple deformity syndromes from maxillo-facial alterations in early infancy; anomalous tooth position and structure cal also be successfully treated immediately after the first appearance of teeth. This is a particularly promising field of pediatrics and preventive pediatric medicine.

Partial-thickness macular hole in vitreomacular traction syndrome: a case report and review of the literature

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Al Sabti Khalid

2010-01-01

Full Text Available Abstract Introduction Vitreomacular traction syndrome has recently been recognized as a distinct clinical condition. It may lead to many complications, such as cystoid macular edema, macular pucker formation, tractional macular detachment, and full-thickness macular hole formation. Case presentation We report a case of vitreomacular traction syndrome with eccentric traction at the macula and a partial-thickness macular hole in a 63-year-old Pakistani Punjabi man. The patient was evaluated using optical coherence tomography, and he underwent a successful pars plana vitrectomy. After the operation, his foveal contour regained normal configuration, and his visual acuity improved from 20/60 to 20/30. Conclusions Pars plana vitrectomy prevents the progression of a partial thickness macular hole in vitreomacular traction syndrome. The relief of traction by vitrectomy restores foveal anatomy and visual acuity in this condition.

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

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

2014-11-01

pathophysiology. The nuclear pore complex proteins, that is, nucleoporins (nup), recognized by these sera were heterogeneous and included Nup358/RanBP2 (n = 2 patients), Nup90 (n = 1), Nup62 (n = 1), and gp210 (n = 1). Taken together the data suggest that nup autoantigens themselves drive the anti-nup autoimmune response. Immunogenetically, the 4 patients shared the DQA1*0501 allele associated with an increased risk for autoimmune myositis.In conclusion, we report an apparent novel subset of autoimmune myositis in our population of French Canadian patients with connective tissue diseases. This syndrome is recognized by the presence of a unique immunologic marker, autoantibodies to nuclear pore complexes that react with nups, consistent with an "anti-nup syndrome."

The roles of categorical and coordinate spatial relations in recognizing buildings.

Science.gov (United States)

Palermo, Liana; Piccardi, Laura; Nori, Raffaella; Giusberti, Fiorella; Guariglia, Cecilia

2012-11-01

Categorical spatial information is considered more useful for recognizing objects, and coordinate spatial information for guiding actions--for example, during navigation or grasping. In contrast with this assumption, we hypothesized that buildings, unlike other categories of objects, require both categorical and coordinate spatial information in order to be recognized. This hypothesis arose from evidence that right-brain-damaged patients have deficits in both coordinate judgments and recognition of buildings and from the fact that buildings are very useful for guiding navigation in urban environments. To test this hypothesis, we assessed 210 healthy college students while they performed four different tasks that required categorical and coordinate judgments and the recognition of common objects and buildings. Our results showed that both categorical and coordinate spatial representations are necessary to recognize a building, whereas only categorical representations are necessary to recognize an object. We discuss our data in view of a recent neural framework for visuospatial processing, suggesting that recognizing buildings may specifically activate the parieto-medial-temporal pathway.

Economy class syndrome: still a recurrent complication of long journeys.

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Feltracco, Paolo; Barbieri, Stefania; Bertamini, Francesca; Michieletto, Elisa; Ori, Carlo

2007-04-01

Economy class syndrome is a rare but still unavoidable complication of long haul flights, particularly in patients who carry various intrinsic risk factors. The tendency to affect even asymptomatic young people and the greater risk to fragment and propagate to the pulmonary circulation are the main characteristics of deep vein thrombosis of long-flight travelers. We report the clinical history of eight patients admitted to intensive care unit for confirmed or highly suspected economy class syndrome. Seven of them developed the syndrome within 72 h from a long return flight, one suffered from pulmonary embolism after a 12-h car trip. Two out of eight patients died, one because of extremely severe hemodynamic impairment, the other as a consequence of multiple organ failure caused by a concomitant myocardial infarction. Deep vein thrombosis and pulmonary embolism represent one of the main medical problems of air travel and cause almost 20% of deaths in people with no medical history. Although economy class syndrome occurs mostly in elderly, even the healthy young population can be affected and, in fact, three out of eight patients of our series were under 50 years of age. All our patients but one carried a well recognized risk factor for deep vein thrombosis. Clinical symptoms of deep vein thrombosis can sometimes be aspecific and confusing, so that a certain proportion of post-travel deep vein thrombosis, evolving favorably and not giving rise to pulmonary embolism, might effectively remain undiagnosed. Economy class syndrome is still quite difficult to deal with and controversial in terms of preventive strategies.

Antarctic skuas recognize individual humans.

Science.gov (United States)

Lee, Won Young; Han, Yeong-Deok; Lee, Sang-Im; Jablonski, Piotr G; Jung, Jin-Woo; Kim, Jeong-Hoon

2016-07-01

Recent findings report that wild animals can recognize individual humans. To explain how the animals distinguish humans, two hypotheses are proposed. The high cognitive abilities hypothesis implies that pre-existing high intelligence enabled animals to acquire such abilities. The pre-exposure to stimuli hypothesis suggests that frequent encounters with humans promote the acquisition of discriminatory abilities in these species. Here, we examine individual human recognition abilities in a wild Antarctic species, the brown skua (Stercorarius antarcticus), which lives away from typical human settlements and was only recently exposed to humans due to activities at Antarctic stations. We found that, as nest visits were repeated, the skua parents responded at further distances and were more likely to attack the nest intruder. Also, we demonstrated that seven out of seven breeding pairs of skuas selectively responded to a human nest intruder with aggression and ignored a neutral human who had not previously approached the nest. The results indicate that Antarctic skuas, a species that typically inhabited in human-free areas, are able to recognize individual humans who disturbed their nests. Our findings generally support the high cognitive abilities hypothesis, but this ability can be acquired during a relatively short period in the life of an individual as a result of interactions between individual birds and humans.

Burnout syndrome among undergraduate nursing students at a public university

Directory of Open Access Journals (Sweden)

Jamila Geri Tomaschewski-Barlem

2014-12-01

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

Marfan syndrome masked by Down syndrome?

NARCIS (Netherlands)

Vis, J.C.; Engelen, K. van; Timmermans, J.; Hamel, B.C.J.; Mulder, B.J.

2009-01-01

Down syndrome is the most common chromosomal abnormality. A simultaneous occurrence with Marfan syndrome is extremely rare. We present a case of a 28-year-old female with Down syndrome and a mutation in the fibrillin-1 gene. The patient showed strikingly few manifestations of Marfan syndrome.

Wolff-Parkinson-White Syndrome in a Term Infant Presenting With Cardiopulmonary Arrest.

Science.gov (United States)

Hoeffler, Christina D; Krenek, Michele E; Brand, M Colleen

2016-02-01

Wolff-Parkinson-White syndrome is a congenital abnormality of the cardiac conduction system caused by the presence of an abnormal accessory electrical pathway between the atria and the ventricles. This can result in intermittent tachyarrhythmias such as supraventricular tachycardia. In rare occasions, sudden death may occur from atrial fibrillation with rapid ventricular conduction. Supraventricular tachycardia typically has a sudden onset and offset, classified as a paroxysmal arrhythmia. Because of the variable occurrence, Wolff-Parkinson-White syndrome may go undiagnosed in the immediate newborn period. To highlight arrhythmia as a possible cause of sudden decompensation in infants. The clinical presentation of this infant is complex and a number of potential diagnoses were considered. Preexcitation on electrocardiogram resulted in the diagnosis of Wolff-Parkinson-White syndrome. Nurses caring for infants should be alert to tachycardia and irregularities of the heart rate, including those in the prenatal history, and should report them for evaluation. While all parents should be taught to watch for signs of illness, parents of infants with Wolff-Parkinson-White have additional learning needs, including recognizing early signs and symptoms of heart failure.

Long QT syndrome unmasked in an adult subject presenting with excited delirium.

Science.gov (United States)

Bozeman, William P; Ali, Karim; Winslow, James E

2013-02-01

Excited delirium is increasingly recognized as a risk factor for sudden death, though the specific pathophysiology of these deaths is typically unclear. We describe a survivor of excited delirium that displayed a transient severe prolongation of the QT interval, suggesting unmasking of long QT syndrome as a possible mechanism of sudden death. A 30-year-old man was arrested by police for violent assaultive behavior. Officers at the scene noted confusion, nonsensical speech, sweating, and bizarre agitated behavior; he was transported to the Emergency Department for medical evaluation of possible excited delirium. His initial electrocardiogram revealed a markedly prolonged corrected QT interval of over 600 ms. Intravenous hydration and sodium bicarbonate were administered, with normalization of the QT; he was admitted and recovered uneventfully. We discuss the possible association between long QT syndrome and unexplained sudden deaths seen with excited delirium. Sodium bicarbonate may be considered when long QT syndrome is identified during or after agitated delirium, though its routine use cannot be recommended based on a case report. Copyright © 2013 Elsevier Inc. All rights reserved.

Dyke-Davidoff-Masson syndrome: case report of fetal unilateral ventriculomegaly and hypoplastic left middle cerebral artery

OpenAIRE

Piro, Ettore; Piccione, Maria; Marrone, Gianluca; Giuffr?, Mario; Corsello, Giovanni

2013-01-01

Prenatal ultrasonographic detection of unilateral cerebral ventriculomegaly arises suspicion of pathological condition related to cerebrospinal fluid flow obstruction or cerebral parenchimal pathology. Dyke-Davidoff-Masson syndrome is a rare condition characterized by cerebral hemiatrophy, calvarial thickening, skull and facial asymmetry, contralateral hemiparesis, cognitive impairment and seizures. Congenital and acquired types are recognized and have been described, mainly in late childhood...

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

Science.gov (United States)

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

2015-06-01

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

Hamartomatous polyposis syndromes

DEFF Research Database (Denmark)

Jelsig, Anne Marie; Qvist, Niels; Brusgaard, Klaus

2014-01-01

Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syndrome. Other syndromes such as ......Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syndrome. Other syndromes...

Altered structural connectivity of pain-related brain network in burning mouth syndrome-investigation by graph analysis of probabilistic tractography.

Science.gov (United States)

Wada, Akihiko; Shizukuishi, Takashi; Kikuta, Junko; Yamada, Haruyasu; Watanabe, Yusuke; Imamura, Yoshiki; Shinozaki, Takahiro; Dezawa, Ko; Haradome, Hiroki; Abe, Osamu

2017-05-01

Burning mouth syndrome (BMS) is a chronic intraoral pain syndrome featuring idiopathic oral pain and burning discomfort despite clinically normal oral mucosa. The etiology of chronic pain syndrome is unclear, but preliminary neuroimaging research has suggested the alteration of volume, metabolism, blood flow, and diffusion at multiple brain regions. According to the neuromatrix theory of Melzack, pain sense is generated in the brain by the network of multiple pain-related brain regions. Therefore, the alteration of pain-related network is also assumed as an etiology of chronic pain. In this study, we investigated the brain network of BMS brain by using probabilistic tractography and graph analysis. Fourteen BMS patients and 14 age-matched healthy controls underwent 1.5T MRI. Structural connectivity was calculated in 83 anatomically defined regions with probabilistic tractography of 60-axis diffusion tensor imaging and 3D T1-weighted imaging. Graph theory network analysis was used to evaluate the brain network at local and global connectivity. In BMS brain, a significant difference of local brain connectivity was recognized at the bilateral rostral anterior cingulate cortex, right medial orbitofrontal cortex, and left pars orbitalis which belong to the medial pain system; however, no significant difference was recognized at the lateral system including the somatic sensory cortex. A strengthened connection of the anterior cingulate cortex and medial prefrontal cortex with the basal ganglia, thalamus, and brain stem was revealed. Structural brain network analysis revealed the alteration of the medial system of the pain-related brain network in chronic pain syndrome.

Numb chin syndrome as a manifestation of possible breast cancer metastasis around dental implants.

Science.gov (United States)

Orhan, Kaan; Bayndr, Hakan; Aksoy, Seçil; Seker, Basak Kusakci; Berberoğlu, Atilla; Ozan, Oğuz

2011-05-01

Numb chin syndrome, sometimes called numb lip syndrome, is an uncommon but well-recognized symptom in medical oncology. It may be a metastatic neurologic manifestation of malignancy, often with no clinically visible pathologic finding. The authors report a numb chin syndrome as a manifestation possible breast cancer metastasis around dental implants in a 69-year-old woman. The patient was presented with complaint of numbness in the lower jaw. Medical anamnesis revealed a metastatic breast carcinoma (CA). Radiographic imaging with conventional panoramic radiography and cone beam computed tomographic examination, revealed a moth-eaten shape, radiolucent, and radiopaque mixed appearance around the dental implants that was related with possible metastasis of the breast cancer. Numb chin syndrome is almost unknown within the dental and oral and maxillofacial community, despite being well reported in the medical literature. General dentists, oral medicine specialists, and oral and maxillofacial surgeons must be aware of this condition to consider metastatic cancer in patients with unexplained facial hypoesthesia. Moreover, although the development of metastatic lesions around implants is an uncommon pathologic finding, the examination of peri-implant lesion should be performed carefully considering the entire pathologic situations.

Avascular necrosis of femoral heads post-adrenal surgery for Cushing's syndrome: a rare presentation.

LENUS (Irish Health Repository)

2012-01-31

Avascular necrosis (AVN) is a well-recognized complication of patients on high-dose steroids for a long time. Exogenous hypercortisolism is a well known cause of AVN and a number of cases have been reported. Cushing\\'s syndrome describes hypercortisolism of any cause endogenous or exogenous. A variety of traumatic and non-traumatic factors contribute to the aetiology of AVN although exogenous glucocorticoids administration and alcoholism are among the most common non-traumatic causes. AVN secondary to endogenous hypercortisolism is rare and very few case reports are available describing this complication. No literature is available on AVN presenting post-adrenal surgery. Here we present a young woman who presented with avascular necrosis of both hips 1 year after adrenalectomy for Cushing\\'s syndrome.

Hashimoto's Thyroiditis Presenting as Acute Painful Thyroiditis and as a Manifestation of an Immune Reconstitution Inflammatory Syndrome in a Human Immunodeficiency Virus-Seropositive Patient.

NARCIS (Netherlands)

Visser, R.; Mast, Q. de; Netea-Maier, R.T.; Ven, A.J.A.M. van der

2012-01-01

Background: An immune reconstitution inflammatory syndrome (IRIS) may complicate immune restoration following start of antiretroviral therapy (ART) in human immunodeficiency virus (HIV)-infected patients. The occurrence of Graves' disease in the setting of an IRIS is well recognized. We hereby

Double heterozygocity for hemoglobin C and beta thalassemia dominant: A rare case of thalassemia intermedia

Directory of Open Access Journals (Sweden)

Alexandra Agapidou

2018-01-01

Full Text Available Beta thalassemia dominant results from mutations in the β globin chain gene resulting in the production of elongated, highly unstable beta globin chains. Several such mutations have been described and in a heterozygous state they may confer a phenotype more severe than that of β thalassemia trait and lead to a clinical syndrome of thalassemia intermedia and its associated complications such as extramedullary hemopoiesis, bone disease, endocrinopathies and iron overload even in the absence of transfusion. In this report we present a case of double heterozygocity for HbC and β thalassemia dominant leading to a series of complications that were treated successfully once the correct diagnosis was made.

Predisposition for borderline personality disorder with comorbid major depression is associated with that for polycystic ovary syndrome in female Japanese population

Directory of Open Access Journals (Sweden)

Kawamura S, Maesawa C, Nakamura K, Nakayama K, Morita M, Hiruma Y, Yoshida T, Sakai A, Masuda T

2011-11-01

Full Text Available Satoshi Kawamura1, Chihaya Maesawa2, Koji Nakamura1, Kazuhiko Nakayama1, Michiaki Morita1, Yohei Hiruma1, Tomoyuki Yoshida3, Akio Sakai3, Tomoyuki Masuda41Department of Psychiatry, Tokyo Jikei University school of Medicine, Tokyo, Japan; 2Department of Tumor Biology, Division of Bioscience, center for Advanced Medical science, Iwate Medical University school of Medicine, Morioka, Japan; 3Department of Neuropsychiatry, Iwate Medical University school of Medicine, Morioka, Japan; 4Department of Pathology, Iwate Medical University school of Medicine, Morioka, JapanAbstract: Polycystic ovary syndrome (PCOS is a common lifestyle-related endocrinopathy in women of reproductive age and is associated with several mental health problems. We examined the genotypic distributions of IRS-1 Gly972Arg and CYP11B2 -344T/C, which were previously described as influencing PCOS, and assayed the serum levels of interleukin-6 (IL-6 and tumor necrosis factor-alpha (TNF-α, in a set of female patients with borderline personality disorder (BPD with comorbid major depressive disorder (MDD (n = 50 and age-matched control subjects (n = 100, to investigate the predisposition for BPD with MDD. The results showed that the patients were more frequently IRS-1 972Arg variant allele carriers (P = 0.013; OR 6.68; 95% CI = 1.30-34.43 and homozygous for the CYP11B2 -344C variant allele (P = 0.022; OR = 3.32; 95% CI = 1.18-9.35 than the control subjects. The IL-6 level was significantly higher in the patients than in the controls (P < 0.0001. There was no significant difference in the serum TNF-α level between patients with BPD with MDD and the healthy comparison group (P = 0.5273. In conclusion, the predisposition for BPD with MDD is associated with that for PCOS, in the female Japanese population. An elevated serum IL-6 level is considered to be a possible biomarker of BPD with MDD.Keywords: borderline personality disorder, depression, polycystic ovary syndrome, genetic

The asthma–COPD overlap syndrome: do we really need another syndrome in the already complex matrix of airway disease?

Directory of Open Access Journals (Sweden)

Kostikas K

2016-06-01

Full Text Available Konstantinos Kostikas, Andreas Clemens, Francesco Patalano Novartis Pharma AG, Basel, Switzerland Abstract: The term asthma–COPD overlap syndrome (ACOS is one of multiple terms used to describe patients with characteristics of both COPD and asthma, representing ~20% of patients with obstructive airway diseases. The recognition of both sets of morbidities in patients is important to guide practical treatment decisions. It is widely recognized that patients with COPD and coexisting asthma present with a higher disease burden, despite the conceptual expectation that the “reversible” or “treatable” component of asthma would allow for more effective management and better outcomes. However, subcategorization into terms such as ACOS is complicated by the vast spectrum of heterogeneity that is encapsulated by asthma and COPD, resulting in different clinical clusters. In this review, we discuss the possibility that these different clusters are suboptimally described by the umbrella term “ACOS”, as this additional categorization may lead to clinical confusion and potential inappropriate use of resources. We suggest that a more clinically relevant approach would be to recognize the extreme variability and the numerous phenotypes encompassed within obstructive airway diseases, with various degrees of overlapping in individual patients. In addition, we discuss some of the evidence to be considered when making practical decisions on the treatment of patients with overlapping characteristics between COPD and asthma, as well as the potential options for phenotype and biomarker-driven management of airway disease with the aim of providing more personalized treatment for patients. Finally, we highlight the need for more evidence in patients with overlapping disease characteristics and to facilitate better characterization of potential treatment responders. Keywords: emphysema, chronic bronchitis, COPD, asthma, ACOS, overlap syndrome

Emotion Recognition as a Real Strength in Williams Syndrome: Evidence From a Dynamic Non-verbal Task

Directory of Open Access Journals (Sweden)

Laure Ibernon

2018-04-01

Full Text Available The hypersocial profile characterizing individuals with Williams syndrome (WS, and particularly their attraction to human faces and their desire to form relationships with other people, could favor the development of their emotion recognition capacities. This study seeks to better understand the development of emotion recognition capacities in WS. The ability to recognize six emotions was assessed in 15 participants with WS. Their performance was compared to that of 15 participants with Down syndrome (DS and 15 typically developing (TD children of the same non-verbal developmental age, as assessed with Raven’s Colored Progressive Matrices (RCPM; Raven et al., 1998. The analysis of the three groups’ results revealed that the participants with WS performed better than the participants with DS and also than the TD children. Individuals with WS performed at a similar level to TD participants in terms of recognizing different types of emotions. The study of development trajectories confirmed that the participants with WS presented the same development profile as the TD participants. These results seem to indicate that the recognition of emotional facial expressions constitutes a real strength in people with WS.

Leri-Weill dyschondrosteosis: An under-recognised cause of short stature

Directory of Open Access Journals (Sweden)

E G Lemire

2009-03-01

Full Text Available Short stature is a frequent presenting problem in the pediatric population. Various causes including endocrinopathies, skeletal dysplasias, dysmorphic syndromes and malabsorption have been implicated. In girls with short stature, Turner syndrome is frequently considered in the differential diagnosis and can easily be ruled out with chromosome analysis. However, it is not uncommon for a child to have no identifiable cause of their short stature. ?FOR Advances in the field of genetics have estimated that about 2% of idiopathic short stature is related to haploinsufficiency of the Short stature homeobox (SHOX gene, which is found on the short arm of the X and Y chromosomes in the pseudoautosomal region. Heterozygous carriers of SHOX mutations may be minimally affected or may present with disproportionate short stature, Madelung deformity and other radiographic findings as in Leri-Weill dyschondrosteosis (LWD. In this article, we report on a 14-year old girl with mesomelic short stature and bilateral Madelung deformities caused by LWD and describe the radiographic findings.

MAJOR MOLECULAR GENETIC DRIVERS IN SPORADIC PRIMARY HYPERPARATHYROIDISM.

Science.gov (United States)

Arnold, Andrew

2016-01-01

Primary hyperparathyroidism is primarily due to a solitary parathyroid adenoma but multi-gland disease, parathyroid carcinoma, and ectopic parathyroid hormone production can occur. Although primary hyperparathyroidism mostly presents sporadically, strong familial predispositions also exist. Much is known about heritable genetic mutations responsible for these syndromes, including multiple endocrine neoplasia types 1 and 2A, hyperparathyroidism-jaw tumor syndrome, and familial hypocalciuric hypercalcemia. Acquired mutations in common sporadic hyperparathyroidism have also been discovered. Here we focus on the most common and well-established genetic drivers: 1) involvement of the oncogene cyclin D1 in human neoplasia was first established in parathyroid adenomas, followed by recognition of its importance in other tumor types including breast cancer and B-lymphoid malignancy; and 2) somatic mutation of the MEN1 gene, first identified as the source of pathogenic germline mutations in patients with familial endocrinopathies, is found in a substantial fraction of non-familial parathyroid adenomas.

Multi-UAV joint target recognizing based on binocular vision theory

Directory of Open Access Journals (Sweden)

Yuan Zhang

2017-01-01

Full Text Available Target recognizing of unmanned aerial vehicle (UAV based on image processing take the advantage of 2D information containing in the image for identifying the target. Compare to single UAV with electrical optical tracking system (EOTS, multi-UAV with EOTS is able to take a group of image focused on the suspected target from multiple view point. Benefit from matching each couple of image in this group, points set constituted by matched feature points implicates the depth of each point. Coordinate of target feature points could be computing from depth of feature points. This depth information makes up a cloud of points and reconstructed an exclusive 3D model to recognizing system. Considering the target recognizing do not require precise target model, the cloud of feature points was regrouped into n subsets and reconstructed to a semi-3D model. Casting these subsets in a Cartesian coordinate and applying these projections in convolutional neural networks (CNN respectively, the integrated output of networks is the improved result of recognizing.

Postpartum Mood Disorders: Recognizing the symptoms

OpenAIRE

Misri, Shaila; Burgmann, Allan J.F.

1992-01-01

Adjusting to the role of mother, a creative and joyous change for most women, combines with simultaneous physiological and psychological changes to develop into psychiatric problems in some women. Three common syndromes during the postpartum period are postpartum blues, postpartum depression, and postpartum psychosis. Any postpartum condition should be diagnosed rapidly to prevent short- and long-term disorders.

Mining Emerging Patterns for Recognizing Activities of Multiple Users in Pervasive Computing

DEFF Research Database (Denmark)

Gu, Tao; Wu, Zhanqing; Wang, Liang

2009-01-01

Understanding and recognizing human activities from sensor readings is an important task in pervasive computing. Existing work on activity recognition mainly focuses on recognizing activities for a single user in a smart home environment. However, in real life, there are often multiple inhabitants...... activity models, and propose an Emerging Pattern based Multi-user Activity Recognizer (epMAR) to recognize both single-user and multiuser activities. We conduct our empirical studies by collecting real-world activity traces done by two volunteers over a period of two weeks in a smart home environment...... sensor readings in a home environment, and propose a novel pattern mining approach to recognize both single-user and multi-user activities in a unified solution. We exploit Emerging Pattern – a type of knowledge pattern that describes significant changes between classes of data – for constructing our...

Seckel syndrome: an overdiagnosed syndrome.

OpenAIRE

Thompson, E; Pembrey, M

1985-01-01

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

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

International Nuclear Information System (INIS)

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

2009-01-01

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

The Fragile X Mental Retardation Protein, FMRP, Recognizes G-Quartets

Science.gov (United States)

Darnell, Jennifer C.; Warren, Stephen T.; Darnell, Robert B.

2004-01-01

Fragile X mental retardation is a disease caused by the loss of function of a single RNA-binding protein, FMRP. Identifying the RNA targets recognized by FMRP is likely to reveal much about its functions in controlling some aspects of memory and behavior. Recent evidence suggests that one of the predominant RNA motifs recognized by the FMRP…

Cornelia de Lange syndrome and molecular implications of the cohesin complex: Abstracts from the 7th biennial scientific and educational symposium 2016

NARCIS (Netherlands)

Kline, Antonie D.; Krantz, Ian D.; Deardorff, Matthew A.; Shirahige, Katsuhiko; Dorsett, Dale; Gerton, Jennifer L.; Wu, Meng; Mehta, Devanshi; Mills, Jason A.; Carrico, Cheri S.; Noon, Sarah; Herrera, Pamela S.; Horsfield, Julia A.; Bettale, Chiara; Morgan, Jeremy; Huisman, Sylvia A.; Moss, Jo; McCleery, Joseph; Grados, Marco; Hansen, Blake D.; Srivastava, Siddharth; Taylor-Snell, Emily; Kerr, Lynne M.; Katz, Olivia; Calof, Anne L.; Musio, Antonio; Egense, Alena; Haaland, Richard E.

2017-01-01

Cornelia de Lange Syndrome (CdLS) is due to mutations in the genes for the structural and regulatory proteins that make up the cohesin complex, and is considered a cohesinopathy disorder or, more recently, a transcriptomopathy. New phenotypes have been recognized in this expanding field. There are

Burnout syndrome among undergraduate nursing students at a public university1

Science.gov (United States)

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

2014-01-01

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

Seventh-day syndrome: a catastrophic event after liver transplantation: case report.

Science.gov (United States)

Pereira, M; Ferreira, I; Gandara, J; Ferreira, S; Lopes, V; Coelho, A; Vizcaino, R; Marinho, A; Daniel, J; Miranda, H P

2015-05-01

Seventh-day syndrome (7DS) is an early serious complication of liver transplantation, characterized by sudden failure of a previously normally functioning liver graft ∼1 week after the surgery. Although it is an uncommon event, it has major associated mortality. As its etiology is yet to be recognized, the only currently available treatment is retransplantation. We present 3 cases of orthotopic liver transplantation recipients who had an initial uneventful recovery after surgery followed by a dramatic rise of serum liver enzyme levels ∼7 days later and hepatic failure with subsequent graft loss and death despite high-dose immunosuppressive therapy. Histologic findings showed massive centrolobular hemorrhage and hepatocellular necrosis with reduced inflammation. It is essential to review and accumulate more clinical and laboratory information to better understand this syndrome and to better prevent and treat it. Copyright © 2015 Elsevier Inc. All rights reserved.

Down syndrome: issues to consider in a national registry, research database and biobank.

Science.gov (United States)

McCabe, Linda L; McCabe, Edward R B

2011-01-01

As the quality of life for individuals with Down syndrome continues to improve due to anticipatory healthcare, early intervention, mainstreaming in schools, and increased expectations, the lack of basic information regarding individuals with Down syndrome is being recognized, and the need to facilitate research through a national registry, research database and biobank is being discussed. We believe that there should not be ownership of the samples and information, but instead prefer stewardship of the samples and information to benefit the participants who provided them. We endorse a model with data and sample managers and a research review board to interface between the investigators and participants. Information and samples would be coded, and only a few data managers would know the relationship between the codes and identifying information. Research results once published should be included in an online newsletter. If appropriate, individual results should be shared with participants. A Down syndrome registry, research database and biobank should be accountable to participants, families, medical care providers, government, and funding sources. Copyright © 2011 Elsevier Inc. All rights reserved.

Superior Mesenteric Artery Syndrome or Wilkie Syndrome

International Nuclear Information System (INIS)

Castano Llano, Rodrigo; Chams Anturi, Abraham; Arango Vargas, Paula

2009-01-01

We described three cases of superior mesenteric artery (SMA) syndrome, also known as Wilkie's syndrome, chronic duodenal ileus, or cast syndrome. This syndrome occurs when the third portion of the duodenum is compressed between the SMA and the aorta. The major risk factors for development of SMA syndrome are rapid weight loss and surgical correction of spinal deformities. The clinical presentation of SMA syndrome is variable and nonspecific, including nausea, vomiting, abdominal pain, and weight loss. The diagnosis is based on endoscopic, radiographic and tomographic findings of duodenal compression by the SMA. The treatment of SMA syndrome is aimed at the precipitating factor, which usually is related to weight loss. Therefore, conservative therapy with nutritional supplementation is the initial approach, and surgery is reserved for those who do not respond to nutritional therapy.

MUNCHAUSEN SYNDROME BY PROXY IN PEDIATRIC DENTISTRY: MYTH OR REALITY?

Directory of Open Access Journals (Sweden)

Veronica PINTILICIUC-ŞERBAN

2017-06-01

Full Text Available Background and aims: Munchausen syndrome by proxy is a condition traditionally comprising physical and mental abuse and medical neglect as a form of psychogenic maltreatment of the child, secondary to fabrication of a pediatric illness by the parent or guardian. The aim of our paper is to assess whether such condition occurs in current pediatric dental practice and to evidence certain situations in which the pediatric dentist should suspect this form of child abuse. Problem statement: Munchausen syndrome by proxy in pediatric dentistry may lead to serious chronic disabilities of the abused or neglected child, being one of the causes of treatment failure. Discussion: Prompt detection of such condition should be regarded as one of the duties of the practitioner who should be trained to report the suspected cases to the governmental child protective agencies. This should be regarded as a form of child abuse and neglect, and the responsible caregiver could be held liable when such wrongful actions cause harm or endanger child’s welfare. Conclusion: Munchausen syndrome by proxy should be regarded as a reality in current pediatric dental practice and dental teams should be trained to properly recognize, assess and manage such complex situations.

Pragmatic Language Assessment in Williams Syndrome: A Comparison of the Test of Pragmatic Language--2 and the Children's Communication Checklist--2

Science.gov (United States)

Hoffmann, Anne; Martens, Marilee A.; Fox, Robert; Rabidoux, Paula; Andridge, Rebecca

2013-01-01

Purpose: Individuals with Williams syndrome (WS) are recognized as having a strong desire for social relationships, yet many of them have difficulty forming and maintaining peer relationships. One cause may be impairments in pragmatic language. The current study compared the assessment of pragmatic language skills in individuals with WS using the…

Framework for benchmarking FA-based string recognizers

CSIR Research Space (South Africa)

Ngassam, EK

2010-10-01

Full Text Available of suggested algorithms by domain-specific FA-implementers requires prior knowledge of the behaviour (performance-wise) of each algorithm in order to make an informed choice. The authors propose a based string recognizers such that FA-implementers could capture...

Beals Syndrome

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... the syndrome. How does Beals syndrome compare with Marfan syndrome? People with Beals syndrome have many of the ... bone) and aortic enlargement problems as people with Marfan syndrome, and treatments for these problems are the same. ...

Sjögren's Syndrome: Oral Manifestations and Treatment, a Dental Perspective.

Science.gov (United States)

Cartee, Deborah L; Maker, Shannon; Dalonges, Debra; Manski, Marion C

2015-12-01

Sjögren's syndrome is a systemic autoimmune disease affecting approximately 3 million Americans, primarily perimenopausal women. The syndrome is characterized by dysfunction and destruction of exocrine glands leading to oral and ocular manifestations, xerostomia and keratitis sicca. Sjögren's syndrome commonly remains either undiagnosed or is diagnosed years after the onset of symptoms. Diagnosis is based on the concurrent presence of various signs and symptoms of the disease as established by 6 diagnostic standards set by the American European Consensus Group standards: oral symptoms, ocular symptoms, evidence of oral signs, evidence of ocular dryness, evidence of salivary gland involvement with positive Anti-Ro/La autoantibodies and a positive gland biopsy. Currently no definitive test or cure exists; treatment is predominately palliative and supportive. With an aging population and heavier reliance on medications and treatments which cause xerostomia, oral health professionals are likely to encounter a higher incidence of xerostomia and Sjögren's syndrome more than ever before. The dental professional must recognize the signs and symptoms of xerostomia, include Sjögren's syndrome in their differential diagnosis, and communicate those findings and concerns to other health care providers, including the primary care physician, rheumatologist and ophthalmologist for evaluation in a timely fashion. This article discusses the dental professional's role in formulating a preventive oral health plan: meticulous oral hygiene instructions, dietary counseling, a complement of chemotherapeutic agents and more frequent recall care to avoid oral complications and improve quality of life. Dental hygienists can help patients understand the wide range of products available to substitute or stimulate salivary flow, prevent or remineralize early carious lesions and relieve candidal and bacterial infections. Ultimately this collaboration of care by the dental and medical

The Relationship between Werner Syndrome and Sinonasal Malignant Melanoma: Two Sibling Cases of Werner Syndrome with Malignant Melanoma

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Yoshinori Kadowaki

2017-01-01

Full Text Available Werner syndrome (WS is an autosomal recessive disease characterized by premature aging. Malignant tumors such as thyroid carcinoma and malignant melanoma occur frequently in WS patients. We describe 2 siblings with WS who suffered from sinonasal malignant melanoma (MM. Both patients initially experienced nasal obstruction and recurrent nasal bleeding and died within 2 years of the diagnosis of MM. Otolaryngologists should recognize that WS patients have a high risk for head and neck malignant disease, particularly sinonasal MM, even if they are aged below the expected age range and undergo periodic examinations. Furthermore, it is important that WS patients are aware that a prompt nasal examination is indicated if they experience continuous nasal obstruction or recurrent nasal bleeding.

Recognizing Multi-user Activities using Wearable Sensors in a Smart Home

DEFF Research Database (Denmark)

Wang, Liang; Gu, Tao; Tao, Xianping

2010-01-01

The advances of wearable sensors and wireless networks oer many opportunities to recognize human activities from sensor readings in pervasive computing. Existing work so far focuses mainly on recognizing activities of a single user in a home environment. However, there are typically multiple inha...

Syndrome of diminished vasodilator reserve of the coronary microcirculation (microvascular angina or syndrome X): Diagnosis by combined atrial pacing and thallium 201 imaging--a case report

International Nuclear Information System (INIS)

Magarian, G.J.; Palac, R.; Reinhart, S.

1990-01-01

Patients with angina-like chest pain without evidence of epicardial coronary artery disease or coronary arterial vasospasm are becoming increasingly recognized. These are often related to noncardiac causes including esophageal, musculoskeletal, and hyperventilatory or panic states. However, recently a subgroup of such patients are being recognized as having true myocardial ischemia and chest pain on the basis of diminished coronary microvascular vasodilatory reserve (microvascular ischemia or Syndrome X). The authors describe such a patient who was found to have replication of anginal pain associated with a reversible ischemic defect on thallium 201 imaging during atrial pacing, suggesting ischemia in this myocardial segment. Resolution of angina and ST segment electrocardiographic changes of ischemia occurred with cessation of pacing. We believe this is the first report of a patient with this form of myocardial ischemia diagnosed by this method and should be considered in patients with anginal chest pain after significant coronary artery disease and coronary vasospasm have been excluded

Endocrinopathies in thalassemia major patient

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Lubis, D. A.; Yunir, E. M.

2018-03-01

Advanced in chelation therapy and regular blood transfusion have marked improvements in the life expectancy of patients with thalassemia major, however these patients still have to deal with several complications. We report a 19-year-old male, presented with multiple endocrine complication-related thalassemia; hypogonadism, short stature, osteoporosis with history of fracture, and subclinical hypothyroid.

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

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Fredman, Rafi; Tenenhaus, Mayer

2013-06-01

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

[Distressful journey for the metabolic syndrome to its position in clinical practice].

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Rybka, J

2010-07-01

MS is a major atherogenic syndrome in our population. The concept of MS has had a very positive effect on our knowledge of the most serious civilization diseases, the genotypic constellation of MS, although monogenic defects explain only a very small part of pathological defects. It is certain, however, that a crucial role played is by interactions between genetic factors and risk factors of external environment. Undoubtedly, insulin resistance, central obesity and impaired metabolism of adipose tissue play an important role in the pathogenesis of MS, and there are other pathogenetic theories. The author discusses briefly the history of MS and presents the best-known definitions starting with the 90s ofthe last century, ADA and EASD reservations towards MS, as well as the new harmonized definition from 2009. This modified definition ofMS has been adopted in practice in the Czech Republic due to the Czech Institute ofmetabolic syndrome. The author discusses in greater detail the WHO expert report from 2010, which indicates some limitations of diagnostic criteria for MS. Despite all the objections the expert report provides reasons to support the use of the term metabolic syndrome, and metabolic syndrome is considered to be a recognized concept that focuses attention on the importance of comprehensive, multifactorial health problems. Finally, the author mentions sub-problems related to MS, which will have to be resolved in collaboration with diabetologists.

Recombinant 4 syndrome due to an unbalanced pericentric inversion of chromosome 4.

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Battaglia, A; Brothman, A R; Carey, J C

2002-09-15

An informative patient with a MCA/MR syndrome consisting of developmental delay, prenatal onset growth delay, microcephaly, distinctive face, iris coloboma, and a congenital heart defect was found, on chromosome analysis, to have the following complement: 46,XY,rec(4) dup(4p) inv(4)(p14q35.1) mat. He has a partial 4p trisomy/distal 4q deletion due to an unbalanced pericentric inversion inherited from his mother. Dup (4p) trisomy was originally described by Wilson et al. [1970: Am J Hum Genet 22:679-690] in a similar case with the same chromosome 4 inversion. To date, at least 85 cases of dup (4p) syndrome have been published, mostly due to unbalanced translocations. Recent articles suggest that the phenotype is hard to recognize clinically due to the lack of specificity of findings. In contrast, 4p trisomy due to an unbalanced pericentric inversion of chromosome 4(p14q35), i.e., the recombinant 4 syndrome observed in our patient, appears to be a discrete entity with relatively consistent features. In total there are four other kindreds described in the literature with this inversion, and the phenotype seems recognizable. Thus, we suggest that recombinant 4 syndrome is a discrete entity among 4p trisomy patients. Copyright 2002 Wiley-Liss, Inc.

Williams-Beuren syndrome: pitfalls for diagnosis in limited resources setting.

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Lumaka, Aimé; Lukoo, Rita; Mubungu, Gerrye; Lumbala, Paul; Mbayabo, Gloire; Mupuala, Aimée; Tshilobo, Prosper Lukusa; Devriendt, Koenraad

2016-03-01

Patients with Williams-Beuren Syndrome can be recognized clinically, given the characteristic dysmorphism, intellectual disability, and behavior. We report on a Congolese boy with typical WBS facial characteristics. He suffered meningitis and coma at the age of 2 years then subsequently presented with profound intellectual disability and atypical behavior. The WBS was only made at age 8.2 years and confirmed with FISH testing and microarray-CGH. The present report aims to warn clinicians that infections may associate and/or modify a genetic disease as this may be observed in developing countries given the prevalence of infectious diseases.

Profil hormonal chez l’homme en cas d’infertilité au laboratoire de radio immunologie de l’institut des radioisotopes de Niamey

Directory of Open Access Journals (Sweden)

D. Moussa

2016-12-01

Conclusion: Les endocrinopathies susceptibles de donner une infertilité masculine sont nombreuses; elles peuvent être congénitales ou acquises et concerner plusieurs étages, hypothalamo-hypophysaire, testiculaire. D’où la nécessité de réaliser un bilan hormonal en vue de dresser un diagnostic précis; ceci est d’autant plus important que certaines de ces endocrinopathies sont accessibles au traitement.

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.

Clinical Heterogeneity of Guillain-Barré Syndrome in the Emergency Department: Impact on Clinical Outcome

OpenAIRE

Athanasios Papathanasiou; Ioannis Markakis

2016-01-01

Guillain-Barr? syndrome (GBS) is mainly classified into acute inflammatory demyelinating polyneuropathy (AIDP) and acute motor axonal neuropathy (AMAN). Although diagnosis of GBS requires progressive weakness and universal areflexia or hyporeflexia, cases of GBS with preserved or increased deep tendon reflexes (DTRs) have been increasingly recognized. We report three cases of GBS, presenting at a single unit in six months. Our first case presented with pure sensory symptoms. The second case h...

Invasive liver abscess syndrome caused by Klebsiella pneumoniae with definite K2 serotyping in Japan: a case report.

Science.gov (United States)

Seo, Ryota; Kudo, Daisuke; Gu, Yoshiaki; Yano, Hisakazu; Aoyagi, Tetsuji; Omura, Taku; Irino, Shigemi; Kaku, Mitsuo; Kushimoto, Shigeki

2016-12-01

Klebsiella pneumonia is a well-known human pathogen, and recently, a distinct invasive syndrome caused by K. pneumoniae serotypes K1 and K2 has been recognized in Southeast Asia. This syndrome is characterized by primary liver abscess and extrahepatic complications resulting from bacteremic dissemination. We report the first adult case of primary liver abscess caused by the definite K2 serotyped pathogen, with endogenous endophthalmitis in Japan. A 64-year-old woman was admitted to a nearby hospital for a high fever and diarrhea. She had visual loss of her right eye, renal dysfunction, and thrombocytopenia within 24 h from admission. She was transferred to our institution. On admission, she had no alteration of mental status and normal vital signs; however, she had almost complete ablepsia of the right eye. Laboratory data showed severe inflammation, liver dysfunction, thrombocytopenia, an increased serum creatinine level, and coagulopathy. Computed tomography showed a low density area in the right lobe of the liver. Invasive liver abscess syndrome probably caused by K. pneumonia was highly suspected and immediately administered broad-spectrum antibiotics for severe sepsis. Concurrently, endogenous endophthalmitis was diagnosed, and we performed vitrectomy on the day of admission. The blood culture showed K. pneumoniae infection. Percutaneous drainage of the liver abscess was also performed. Although she was discharged in a good general condition on day 22, she had complete ablepsia of the right eye. The K2A gene was detected by polymerase chain reaction (PCR), which is consistent with the K2 serotype. PCR was also positive for the virulence-associated gene rmpA. Final diagnosis was invasive liver abscess syndrome caused by K2 serotype K. pneumonia. Although the primary liver abscess caused by K. pneumoniae with a hypermucoviscous phenotype is infrequently reported outside Southeast Asia, physicians should recognize this syndrome, and appropriate diagnosis and

Isolation and characterization of cDNA encoding the 80-kDa subunit protein of the human autoantigen Ku (p70/p80) recognized by autoantibodies from patients with scleroderma-polymyositis overlap syndrome

International Nuclear Information System (INIS)

Mimori, Tsuneyo; Ohosone, Yasuo; Hama, Nobuaki; Suwa, Akira; Akizuki, Masashi; Homma, Mitsuo; Griffith, A.J.; Hardin, J.A.

1990-01-01

Anti-Ku (p70/p80) autoantibodies in patients with scleroderma-polymyositis overlap syndrome recognize a 70-kDa/80-kDa protein heterodimer which binds to terminal regions of double-stranded DNA. In the present study, the authors isolated full-length cDNAs that encode the 80-kDa Ku subunit. Initial screening of a human spleen cDNA library with anti-Ku antibodies yielded a cDNA of 1.0 kilobase (kb) (termed K71) encoding a portion of the 80-kDa Ku polypeptide (identification based on immunological criteria). In RNA blots, this cDNA hybridized with two mRNAs of 3.4 and 2.6 kb. In vitro transcription and translation experiments produced an immunoprecipitable polypeptide which comigrated with the 80-kDa Ku subunit. The Ku80-6 cDNA proved to be 3304 nucleotides in length, with an additional poly(A) tail, closely approximating the size of the larger mRNA. It contains a single long open reading frame encoding 732 amino acids. The putative polypeptide has a high content of acidic amino acids and a region with periodic repeat of leucine in every seventh position which may form the leucine zipper structure. In genomic DNA blots, probes derived from the opposite ends of cDNA Ku80-6 hybridized with several nonoverlapping restriction fragments from human leukocyte DNA, indicating that the gene encoding the 80-kDa Ku polypeptide is divided into several exons by intervening sequences

Autoimmune AQP4 channelopathies and neuromyelitis optica spectrum disorders.

Science.gov (United States)

Hinson, Shannon R; Lennon, Vanda A; Pittock, Sean J

2016-01-01

Neuromyelitis optica (NMO) spectrum disorders (SD) represent an evolving group of central nervous system (CNS)-inflammatory autoimmune demyelinating diseases unified by a pathogenic autoantibody specific for the aquaporin-4 (AQP4) water channel. It was historically misdiagnosed as multiple sclerosis (MS), which lacks a distinguishing biomarker. The discovery of AQP4-IgG moved the focus of CNS demyelinating disease research from emphasis on the oligodendrocyte and myelin to the astrocyte. NMO is recognized today as a relapsing disease, extending beyond the optic nerves and spinal cord to include brain (especially in children) and skeletal muscle. Brain magnetic resonance imaging abnormalities, identifiable in 60% of patients at the second attack, are consistent with MS in 10% of cases. NMOSD-typical lesions (another 10%) occur in AQP4-enriched regions: circumventricular organs (causing intractable nausea and vomiting) and the diencephalon (causing sleep disorders, endocrinopathies, and syndrome of inappropriate antidiuresis). Advances in understanding the immunobiology of AQP4 autoimmunity have necessitated continuing revision of NMOSD clinical diagnostic criteria. Assays that selectively detect pathogenic AQP4-IgG targeting extracellular epitopes of AQP4 are promising prognostically. When referring to AQP4 autoimmunity, we suggest substituting the term "autoimmune aquaporin-4 channelopathy" for the term "NMO spectrum disorders." Randomized clinical trials are currently assessing the efficacy and safety of newer immunotherapies. Increasing therapeutic options based on understanding the molecular pathogenesis is anticipated to improve the outcome for patients with AQP4 channelopathy. © 2016 Elsevier B.V. All rights reserved.

Serotonin syndrome

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

MRI of anterior spinal artery syndrome of the cervical spinal cord

Energy Technology Data Exchange (ETDEWEB)

Takahashi, S. (Dept. of Radiology, Tohoku Univ. School of Medicine, Sendai (Japan)); Yamada, T. (Dept. of Radiology, Tohoku Univ. School of Medicine, Sendai (Japan)); Ishii, K. (Dept. of Radiology, Tohoku Univ. School of Medicine, Sendai (Japan)); Saito, H. (Dept. of Neurology, Tohoku Univ. School of Medicine, Sendai (Japan)); Tanji, H. (Dept. of Neurology, Tohoku Univ. School of Medicine, Sendai (Japan)); Kobayashi, T. (Inst. of Rehabilitation Medicine, Tohoku Univ. School of Medicine, Miyagi (Japan)); Soma, Y. (Div. of Neurology, Takeda Hospital, Aizuwakamatsu (Japan)); Sakamoto, K. (Dept. of Radiology, Tohoku Univ. School of Medicine, Sendai (Japan))

1992-12-01

Cervical spinal cord lesions in the anterior spinal artery syndrome were delineated on magnetic resonance images (MRI) in four patients. The lesion was always seen anteriorly in the cervical cord. On T2-weighted images, the lesions appeared hyperintense relative to the normal spinal cord, while on T1-weighted images, two chronic lesions appeared hypointense, with local atrophy of the cord. In one case, repeated T1-weighted images showed no signal abnormality 4 days after the ictus, but the lesion became hypointense 18 days later, when contrast enhancement was also recognized after injection of Gd-DTPA; this sequence of intensity changes was similar to that of cerebral infarction. The extent of the lesion seen MRI correlated closely with neurological findings in all cases. Although the findings may not be specific, MRI is now the modality of choice for confirming the diagnosis in patients suspected of having an anterior spinal artery syndrome. (orig.)

Cephalohematoma in a Patient with Ehlers-Danlos Syndrome

Directory of Open Access Journals (Sweden)

Brent M Felton

2013-09-01

Full Text Available Ehlers-Danlos syndrome is a rarely encountered connective tissue disorder characterized by skin hyper-elasticity, joint hyper-flexibility, and vasculature fragility. We report a 41-year-old female presenting with scalp swelling following minor head trauma. The patient presented with a large cephalohematoma that despite compressive measures and Factor IX administration continued to progress, necessitating transfer for definitive surgical intervention. The patient underwent surgical evacuation of approximately 1 liter of blood, followed by drain placement and compression dressing. This case underscores the importance for emergency physicians to recognize the potential vascular catastrophes these patients may present with following even minor injury. [West J Emerg Med. 2013;14(5:419-420.

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

Science.gov (United States)

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

2009-02-01

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

Duane Syndrome

Science.gov (United States)

... Frequently Asked Questions Español Condiciones Chinese Conditions Duane Syndrome En Español Read in Chinese What is Duane Syndrome? Duane syndrome, also called Duane retraction syndrome (DRS), ...

Treating metabolic syndrome's metaflammation with low level light therapy: preliminary results

Science.gov (United States)

Yoshimura, Tania M.; Kato, Ilka T.; Deana, Alessandro M.; Ribeiro, Martha S.

2014-02-01

Metabolic syndrome comprises a constellation of morbidities such as insulin resistance, hyperinsulinemia, atherogenic dyslipidemia, dysglycemia and obesity (especially abdominal). Metabolic alterations are observed in major insulin target organs, increasing the risk of cardiovascular diseases, type-2 diabetes and therefore mortality. Tissue alterations are characterized by immune cells infiltrates (especially activated macrophages). Released inflammatory mediators such as TNF-α induce chronic inflammation in subjects with metabolic syndrome, since inflammatory pathways are activated in the neighboring cells. The intra-abdominal adipose tissue appears to be of particular importance in the onset of the inflammatory state, and strategies contributing to modulate the inflammatory process within this adipose tissue can mitigate the metabolic syndrome consequences. Considering the low level light therapy (LLLT) recognized benefits in inflammatory conditions, we hypothesized this therapeutic approach could promote positive effects in modulating the inflammatory state of metabolic syndrome. That being the scope of this study, male C57BL/6 mice were submitted to a high-fat/high-fructose diet among 8 weeks to induce metabolic syndrome. Animals were then irradiated on the abdominal region during 21 days using an 850 nm LED (6 sessions, 300 seconds per session, 60 mW output power, ~6 J/cm2 fluence, ~19 mW/cm2 fluence rate). Before and during treatment, blood was sampled either from the retroorbital plexus or from tail puncture for glucose, total cholesterol and triglycerides analysis. So far our results indicate no alterations on these metabolic parameters after LLLT. For further investigations, blood was collected for plasma inflammatory cytokine quantification and fresh ex vivo samples of liver and intra-abdominal adipose tissue were harvested for immunohistochemistry purposes.

Klippel – Feil Syndrome Associated with Congential Heart Disease Presentaion of Cases and a Review of the Curent Literature

Science.gov (United States)

Bejiqi, Ramush; Retkoceri, Ragip; Bejiqi, Hana; Zeka, Naim

2015-01-01

First time described in 1912, from Maurice Klippel and Andre Feil independently, Klippel-Feil syndrome (synonyms: cervical vertebra fusion syndrome, Klippel-Feil deformity, Klippel-Feil sequence disorder) is a bone disorder characterized by the abnormal joining (fusion) of two or more spinal bones in the neck (cervical vertebrae), which is present from birth. Three major features result from this abnormality: a short neck, a limited range of motion in the neck, and a low hairline at the back of the head. Most affected people have one or two of these characteristic features. Less than half of all individuals with Klippel-Feil syndrome have all three classic features of this condition. Since first classification from Feil in three categories (I – III) other classification systems have been advocated to describe the anomalies, predict the potential problems, and guide treatment decisions. Patients with Klippel-Feil syndrome usually present with the disease during childhood, but may present later in life. The challenge to the clinician is to recognize the associated anomalies that can occur with Klippel-Feil syndrome and to perform the appropriate workup for diagnosis. PMID:27275209

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.

Goldenhar Syndrome in Association with Duane Syndrome

Directory of Open Access Journals (Sweden)

U D Shrestha

2012-03-01

Full Text Available Goldenhar syndrome (GHS is also known as Oculo-Auriculo-Vertebral (OAV syndrome or Branchial arch syndrome. Duane retraction syndrome (DRS is a congenital disorder of ocular motility characterized by limited abduction, adduction or both. It is unilateral in 80% of cases. The important and interesting part of this eight months old child is presence of GHS with DRS. She has bilateral invol-vement, which is seen in only 5-8% of GHS, as compared to high incidence of unilateral involve-ment. This child also had refractive error of + 6.00/ - 1.5 * 180. At four year of age her vision with glass was 6/9. Children with GHS and DRS should have early eye examination done to treat the problem of refractive error. Keywords: Duane retraction syndrome; goldenhar syndrome, refractive error.

Recognizing the Stranger: Recognition Scenes in the Gospel of John

DEFF Research Database (Denmark)

Larsen, Kasper Bro

Recognizing the Stranger is the first monographic study of recognition scenes and motifs in the Gospel of John. The recognition type-scene (anagnōrisis) was a common feature in ancient drama and narrative, highly valued by Aristotle as a touching moment of truth, e.g., in Oedipus’ tragic self...... structures of the type-scene in order to show how Jesus’ true identity can be recognized behind the half-mask of his human appearance....

Myocardial glucose metabolism assessed by positron emission tomography and the histopathologic findings of microvessels in syndrome X

International Nuclear Information System (INIS)

Satake, Osamichi; Kajinami, Kouji; Ishikawa, Yoshimaro; Ueda, Tadashi; Tsugawa, Hiroichi; Kanemitsu, Seiyu; Okubo, Shinji; Takekoshi, Noboru

2004-01-01

Syndrome X has been recognized as a disease that is primarily reflected in the cardiac microvasculature. Myocardial metabolism in this condition has been studied, but not in relation to small vessel pathology. In order to examine the relationship between myocardial metabolism and small vessel pathology, 24 consecutive patients with syndrome X (7 men, 17 women; mean age 58 years) were evaluated by the thallium exercise stress test, positron emission tomography using F-18 fluoro-deoxyglucose (FDG), and an endomyocardial biopsy. All patients showed either diffuse or focal increase in the myocardial uptake of FDG, but only 17 patients (71%) showed hypoperfused areas with partial or complete redistribution in the thallium study. Quantification of myocardial FDG uptake revealed that the value in syndrome X patients was 10-fold higher than in controls (p<0.0001). Histopathological examination revealed that in syndrome X there is an extensive increase in smooth muscle cells and thickening of the vascular wall, even in capillary vessels, and the small vessel lumen was markedly narrowed. There was a significant inverse correlation between FDG myocardial uptake and the microvessel luminal area. In syndrome X patients, myocardial FDG uptake is increased extensively, which is strongly associated with narrowed myocardial microvasculature. (author)

Increased risk of polycystic ovary syndrome (PCOS) associated with CC genotype of miR-146a gene variation.

Science.gov (United States)

Ebrahimi, Seyed Omar; Reiisi, Somayeh; Parchami Barjui, Shahrbanou

2018-04-11

Polycystic ovary syndrome (PCOS) is an endocrinopathy in reproductive-age women believed to be affected by several genetics and environmental factors or both. Different miRNAs are one of such genetic factors that their associations with PCOS have been implicated. For instance, miR-146a that is well known for strongly regulating the immune response and inflammation was upregulated in serum plasma, follicular fluid and granulosa cells of PCOS patients. Different studies have shown that genetic changes in pre-miRNA can cause change in the expression or biological function of mature miRNA. Therefore, the main aim of this study was to investigate the association of miR-146a gene variation (rs2910164) with the susceptibility to PCOS. This study consists of 180 patients with PCOS and 192 healthy women matched by age and geographical region. Genotyping were determined by using PCR-RFLP in all subjects. The genotype frequency and allele distributions of all subjects were evaluated using Fisher's exact test directed by SPSS v.20. The genotype and allele frequencies of the miR-146a polymorphism (rs2910164) significantly differ between PCOS and healthy controls. The frequencies of CC genotype (p = .054) and 'C' allele (p = .0001) of the miR-146a variant indicated a significant incidence in cases compared to controls. Such association was obtained in co-dominant (OR = 3.16) and dominant (OR = 2.29) models. Result of this study can be proposed that women with miR-146a variation are at a higher risk for developing PCOS, which can be due to up-regulation of miR-146a.

A case report: a young waiter with Paget-Schroetter syndrome.

Science.gov (United States)

Drakos, Nicholas; Gausche-Hill, Marianne

2013-03-01

Paget-Schroetter syndrome (PSS) is a rare presentation of primary axillary subclavian vein thrombosis that classically occurs in young men with a degree of underlying thoracic outlet syndrome after a period of upper extremity exertion. The primary complication of PSS is post-thrombotic syndrome, a result of chronic venous hypertension. To educate Emergency Physicians on this condition to potentiate timely diagnosis and appropriate disposition. A 29-year-old right-handed restaurant waiter presented with 3 days of non-painful, gradual-onset right upper extremity swelling with normal vital signs. The patient's history was otherwise notable for subjective fevers and a right forearm abrasion. Upon examination, the right upper extremity was neurovascularly intact and remarkable for uniform edema and erythema extending distally from the level of the mid-humerus. The primary differential diagnoses were deep venous thrombosis (DVT) vs. soft tissue infection. Venous phase contrast computed tomography did not reveal evidence of underlying soft tissue infection and was inconclusive regarding a DVT. Ultrasound demonstrated a right subclavian vein DVT. The patient was admitted and underwent thrombolysis, venolysis, and first rib resection and initiation of warfarin. PSS is a rare presentation of upper-extremity DVT occurring classically in patients without commonly recognized pro-thrombotic risk factors. PSS carries the potential of significant morbidity in the form of post-thrombotic syndrome and pulmonary embolism. Current literature suggests that optimal outcomes are achieved when treatment is initiated within 6 weeks of onset. The treatment paradigm calls for thrombolysis and, frequently, a first rib resection. Copyright © 2013 Elsevier Inc. All rights reserved.

Excited delirium syndrome (ExDS): treatment options and considerations.

Science.gov (United States)

Vilke, Gary M; Bozeman, William P; Dawes, Donald M; Demers, Gerard; Wilson, Michael P

2012-04-01

The term Excited Delirium Syndrome (ExDS) has traditionally been used in the forensic literature to describe findings in a subgroup of patients with delirium who suffered lethal consequences from their untreated severe agitation.(1-5) Excited delirium syndrome, also known as agitated delirium, is generally defined as altered mental status and combativeness or aggressiveness. Although the exact signs and symptoms are difficult to define precisely, clinical findings often include many of the following: tolerance to significant pain, rapid breathing, sweating, severe agitation, elevated temperature, delirium, non-compliance or poor awareness to direction from police or medical personnel, lack of fatiguing, unusual or superhuman strength, and inappropriate clothing for the current environment. It has become increasingly recognized that individuals displaying ExDS are at high risk for sudden death, and ExDS therefore represents a true medical emergency. Recently the American College of Emergency Physicians (ACEP) published the findings of a white paper on the topic of ExDS to better find consensus on the issues of definition, diagnosis, and treatment.(6) In so doing, ACEP joined the National Association of Medical Examiners (NAME) in recognizing ExDS as a medical condition. For both paramedics and physicians, the difficulty in diagnosing the underlying cause of ExDS in an individual patient is that the presenting clinical signs and symptoms of ExDS can be produced by a wide variety of clinical disease processes. For example, agitation, combativeness, and altered mental status can be produced by hypoglycemia, thyroid storm, certain kinds of seizures, and these conditions can be difficult to distinguish from those produced by cocaine or methamphetamine intoxication.(7) Prehospital personnel are generally not expected to differentiate between the multiple possible causes of the patient's presentation, but rather simply to recognize that the patient has a medical emergency

Pooling Objects for Recognizing Scenes without Examples

NARCIS (Netherlands)

Kordumova, S.; Mensink, T.; Snoek, C.G.M.

2016-01-01

In this paper we aim to recognize scenes in images without using any scene images as training data. Different from attribute based approaches, we do not carefully select the training classes to match the unseen scene classes. Instead, we propose a pooling over ten thousand of off-the-shelf object

Comparison of Indicators of Metabolic Syndrome in Iranian Smokers

Directory of Open Access Journals (Sweden)

Leila Jamshidi

2014-01-01

Full Text Available Background: Worldwide non communicable diseases are increasingly recognized as a major cause of morbidity and mortality. The metabolic syndrome is a common metabolic disorder that results from the increasing prevalence of obesity.The disorder is defined in various ways. This study determine the 6Tcomparison of indicators of metabolic syndrome in Iranian smokers population. Materials and Methods: A total of 1,024 Iranian subjects aged 30 to 70 participated in this cross sectional study. Standard questionnaire was completing regarding smoking habits, medications, past medical history, physical activity, blood pressure, fasting blood suger, total cholestrol HDL and triglycerides. The diagnosis of metabolic syndrome was based on the IDF criteria. Results: As defined by the modified IDF criteria, (45.9% had the MS at baseline assessment. The risk of incidence of the metabolic syndrome among smokers was9T 6T9Tsignificantly6T9T 6T9T(p<0.008 greater6T than nonsmokers. Among men without the MS at entry, body weight gain, compared with never smokers, was significantly6T (p<0.007 6Thigher in smokers who had quit smoking. It is important for the prevention of the MS not only to quit smoking but also to prevent weight gain after smoking cessation. Conclusion: Although many cardiovascular diseases (CVDs can be treated or prevented many people die from CVDs. Reducing the rate of cigarette smoking, body weight, blood pressure, blood cholesterol, and blood glucose all have a benefit impact on major biological cardiovascular risk factors. Behaviors such as stopping smoking, taking regular physical activity and eating a healthy diet promote health and have no known harmful effects.

Super-Memorizers Are Not Super-Recognizers

OpenAIRE

Ramon, M.; Miellet, S.; Dzieciol, A.M.; Konrad, B.N; Dresler, M.; Caldara, R.

2016-01-01

Humans have a natural expertise in recognizing faces. However, the nature of the interaction between this critical visual biological skill and memory is yet unclear. Here, we had the unique opportunity to test two individuals who have had exceptional success in the World Memory Championships, including several world records in face-name association memory. We designed a range of face processing tasks to determine whether superior/expert face memory skills are associated with distinctive perce...

Federally-Recognized Tribes of the Columbia-Snake Basin.

Energy Technology Data Exchange (ETDEWEB)

United States. Bonneville Power Administration

1997-11-01

This is an omnibus publication about the federally-recognized Indian tribes of the Columbia-Snake river basin, as presented by themselves. It showcases several figurative and literal snapshots of each tribe, bits and pieces of each tribe`s story. Each individual tribe or tribal confederation either submitted its own section to this publication, or developed its own section with the assistance of the writer-editor. A federally-recognized tribe is an individual Indian group, or confederation of Indian groups, officially acknowledged by the US government for purposes of legislation, consultation and benefits. This publication is designed to be used both as a resource and as an introduction to the tribes. Taken together, the sections present a rich picture of regional indian culture and history, as told by the tribes.

Sequential occurrence of combined pulmonary fibrosis and emphysema syndrome in a non-smoker female patient.

Science.gov (United States)

Gupta, Pawan; Dash, Devijyoti; Mittal, Richa; Chhabra, Sunil K

2017-05-01

The combined pulmonary fibrosis and emphysema (CPFE) syndrome is a unique and an under-recognized disorder characterized by emphysema in the upper lobes and interstitial fibrosis in the lower lobes of the lung. It occurs predominantly in males and almost exclusively in smokers. This rare combination of a restrictive and an obstructive mechanical defect carries a poorer prognosis than either of the two components. We present a case of CPFE syndrome in a non-smoker female patient who developed lower lobe emphysema subsequent to development of interstitial fibrosis. The case was remarkable for the extreme rarity of several presenting features, namely, a lower lobe occurrence of emphysema subsequent to pre-existent interstitial fibrosis, female gender and absence of a history of smoking. © 2015 John Wiley & Sons Ltd.

Fanconi syndrome

Science.gov (United States)

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

78 FR 7460 - Stakeholder Meeting on the Nationally Recognized Testing Laboratory Program

Science.gov (United States)

2013-02-01

...] Stakeholder Meeting on the Nationally Recognized Testing Laboratory Program AGENCY: Occupational Safety and Health Administration (OSHA), Labor. ACTION: Notice of stakeholder meeting. SUMMARY: OSHA invites interested parties to attend an informal stakeholder meeting concerning Nationally Recognized Testing...

OCULO-CEREBRO-RENAL SYNDROME (LOWE'S SYNDROME)

Institute of Scientific and Technical Information of China (English)

无

1991-01-01

Oculo-cerebro-renal syndrome (Lowe's syndrome) is characterized by mental and motor retardation, cataract, glaucoma and renal abnormalities. It is an X-linked recessive metabolic disease. Two brothers suffering from Lowe's syndrome are reported. Their mother with lenticular opacities and peculiar facial appearance is in concordance with the obligate carrier. The ocular changes and heridity are discussed.

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

Directory of Open Access Journals (Sweden)

Tullu M

2000-04-01

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

Primary Biliary Cirrhosis and Primary Sjögren's Syndrome: Insights for the Stomatologist

Directory of Open Access Journals (Sweden)

Liliane Lins

2014-08-01

Full Text Available Primary biliary cirrhosis (PBC is a chronic progressive autoimmune disease characterized by portal inflammation and immune-mediated destruction of the intrahepatic bile ducts. Primary Sjögren's syndrome is an autoimmune disease characterized by lymphocytic infiltration of exocrine glands, mainly the lachrymal and salivary glands, in the absence of other definitively diagnosed rheumatologic disease. We report a diagnosed case of primary Sjögren's syndrome associated with PBC. A 59-year-old Caucasian woman went to oral evaluation reporting dry mouth, difficulty in eating associated with burning mouth syndrome, dysgeusia and dysphagia. Intraoral examination revealed extensive cervical caries, gingivitis, gingival retraction, angular cheilitis and atrophic tongue. Hyposalivation was detected by salivary flow and Schirmer's test was positive. Antinuclear and antimitochondrial antibodies were both positive. Anti-Ro/SSA and anti-La/SSB antibodies were negative. A minor salivary gland biopsy of the lower lip was performed. Histopathologic analysis revealed lymphocytic infiltrate with destruction of salivary gland architecture in some areas and replacement of glandular tissues by mononuclear cells. Optimal management of PBC associated with Sjögren's syndrome requires a multidisciplinary approach as the key to optimal patient care. Dental practitioners should be able to recognize the clinical features of this associated condition. Appropriate dental care may prevent tooth decay, periodontal disease and oral infections as well as improve the patient's quality of life.

Obstructive sleep apnea syndrome and growth failure.

Science.gov (United States)

Esteller, E; Villatoro, J C; Agüero, A; Lopez, R; Matiñó, E; Argemi, J; Girabent-Farrés, M

2018-05-01

Obstructive sleep apnea syndrome is a common problem among children and is recognized as a cause of significant medical morbidity. Since the 1980s, it has been suggested that obstructive sleep apnea syndrome is a risk factor for growth failure in children. In many cases, it has been shown that growth failure is reversible once the obstructive sleep apnea syndrome is resolved. The objectives of this study were to analyze and compare growth failure prevalence in a Mediterranean population of children with obstructive sleep apnea syndrome and healthy children matched in age and sex, and to assess the effectiveness of tonsillectomy and adenoidectomy in resolving growth retardation. We compared 172 children with obstructive sleep apnea syndrome (apnea-hypopnea index ≥ 3) who had undergone tonsillectomy and adenoidectomy with 172 healthy controls in terms of key anthropometric parameters. Most of the criteria used for growth failure were higher to a statistically significant degree in the study group vs the control group: height-for-age ≤ 3rd percentile (7.56% vs 2.91%; p = 0.044), weight-for-age ≤ 5th percentile (9.30% vs 2.33%; p = 0.005), weight-for-age ≤ 3rd percentile (8.14% vs 2.33%; p = 0.013) and height and/or weight for-age ≤ 5th percentile (13.95% vs 5.81%; p = 0.009). The height-for-age ≤ 5th percentile was almost at the limit of statistical significance (8.72% for the study group vs 4.65% for the control group; p = 0.097). At one-year post-surgery follow-up, 10 of 15 children with height-for-age ≤ 5th percentile had achieved catch-up growth (66.6%), and 14 of 24 children with height- and/or weight-for-age ≤ 5th percentile had normalized growth (58.33%). For children with failure to thrive or who have growth failure, physicians should consider the possibility of obstructive sleep apnea. A significant number of children with obstructive sleep apnea concurrent with growth failure could benefit from

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

Science.gov (United States)

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

2018-05-03

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

Knowledge, assessment, and management of adults with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type among Flemish physiotherapists.

Science.gov (United States)

Rombaut, Lies; Deane, Janet; Simmonds, Jane; De Wandele, Inge; De Paepe, Anne; Malfait, Fransiska; Calders, Patrick

2015-03-01

Physiotherapy plays a fundamental role in managing adults with the joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT). However, it is a challenge for both the patient and the physiotherapist as the condition is poorly understood and treatment for JHS/EDS-HT is currently undefined. Insight into current practice is, therefore, necessary in order to establish baseline knowledge in this area and in the long term to improve the standard of patient care. Therefore, the purpose of this study was to evaluate current physiotherapists' knowledge of JHS/EDS-HT and to gain insight into current physiotherapy practice with emphasis on assessment, management, and treatment efficacy. Three hundred twenty-five Flemish physiotherapists participated in the study by filling out electronically a modified version of the "Hypermobility and Hypermobility Syndrome Questionnaire" (HHQ), which covered theoretical constructs such as general knowledge, assessment, management, and learning in relation to generalized joint hypermobility and JHS/EDS-HT. The results show that physiotherapists report a low level of confidence with regard to assessment and management of JHS/EDS-HT. Knowledge of hypermobility and JHS/EDS-HT is weak, especially regarding the features associated with JHS/EDS-HT. Many treatment approaches are used by physiotherapists with the majority showing preference for education, reassurance, muscle strengthening, proprioceptive and core stability training. Almost all approaches were perceived as being clinically effective by the physiotherapists, highlighting a lack of consensus. In conclusion, this study in Flemish physiotherapists confirms that JHS/EDS-HT is under-recognized, not well known and deemed difficult to treat. Further education is required and sought by the physiotherapists surveyed, and future research is needed. © 2015 Wiley Periodicals, Inc.

LEOPARD syndrome is not linked to the Marfan syndrome and the Watson syndrome loci

Energy Technology Data Exchange (ETDEWEB)

Rass-Rothchild, A.: Abeliovitch, D.; Kornstein, A. [Tel Aviv Univ. (Israel)]|[Hebrew Univ., Jerusalem (Israel)

1994-09-01

The acronym LEOPARD stands for a syndromic association of Lentigines, Eletrocardiographic changes, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia, Retardation of growth and sensorineural Deafness. Inheritance is autosomal dominant with high penetrance and variable expressivity. In 1990 Torok et al. reported on the association of LEOPARD and Marfan syndrome. In addition a clinical similarity (cardiac and cutaneous involvement) exists with the Watson syndrome (neurofibromatosis and pulmonic stenosis) which is linked to the marker D17S33 on chromosome 17. We studied possible linkage of LEOPARD syndrome to the Marfan syndrome locus on chromosome 15 (D15S1, MF13, and (TAAAA)n repeats) and to the NF-1 locus on chromosome 17 in a family with 9 cases of LEOPARD syndrome. Close linkage between LEOPARD syndrome and both the Marfan locus on chromosome 15 and the NF-1 locus on chromosome 17 was excluded (lod score <-2.0 through {theta} = 0.1).

A novel approach in recognizing magnetic material with simplified algorithm

KAUST Repository

Talukdar, Abdul Hafiz Ibne

2011-04-01

In this article a cost-effective and simple system (circuit and algorithm) which allows recognizing different kinds of films by their magneto-field conductive properties is demonstrated. The studied signals are generated by a proposed circuit. This signal was further analyzed (recognized) in frequency domain creating the Fourier frequency spectrum which is easily used to detect the response of magnetic sample. The novel algorithm in detecting magnetic field is presented here with both simulation and experimental results. © 2011 IEEE.

[Maurice Raynaud (1834-1881) and the syndrome named after him].

Science.gov (United States)

Kaiser, H

2011-09-01

Approximately 150 years ago Maurice Raynaud described in his doctoral thesis a set of symptoms characterized by intermittent pallor and cyanosis of the extremities which in severe cases could lead to the development of gangrene. Because the symptoms could be triggered by spasms in small blood vessels the exclusion of an organic vascular disease is a prerequisite of the diagnosis. Raynaud had not yet recognized that this often observed syndrome could sometimes be advance or initial symptoms of a severe general disease. This is the reason why nowadays these are referred to as primary and secondary Raynaud syndromes. Simultaneously to his doctoral thesis Raynaud had submitted his PhD thesis with two noteworthy publications on the history of medicine. His postdoctoral thesis encompassed a comprehensive study of the"efferent process". Raynaud worked in various Paris clinics, occupied himself with many problems and was considered to be a good academic teacher. For political reasons he was neither promoted to professor nor did he receive a chair in the history of medicine.

An Autoimmune Myositis-Overlap Syndrome Associated With Autoantibodies to Nuclear Pore Complexes

Science.gov (United States)

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

2014-01-01

link to pathophysiology. The nuclear pore complex proteins, that is, nucleoporins (nup), recognized by these sera were heterogeneous and included Nup358/RanBP2 (n = 2 patients), Nup90 (n = 1), Nup62 (n = 1), and gp210 (n = 1). Taken together the data suggest that nup autoantigens themselves drive the anti-nup autoimmune response. Immunogenetically, the 4 patients shared the DQA1∗0501 allele associated with an increased risk for autoimmune myositis. In conclusion, we report an apparent novel subset of autoimmune myositis in our population of French Canadian patients with connective tissue diseases. This syndrome is recognized by the presence of a unique immunologic marker, autoantibodies to nuclear pore complexes that react with nups, consistent with an “anti-nup syndrome.” PMID:25500708

Polycystic ovary syndrome and insulin: our understanding in the past, present and future.

Science.gov (United States)

Mayer, Stéphanie B; Evans, William S; Nestler, John E

2015-03-01

Insulin resistance is prevalent in women with polycystic ovary syndrome (PCOS), and plays a critical pathophysiologic role in both the metabolic and reproductive complications of PCOS. This review focuses on the contribution of insulin resistance to anovulation in PCOS and to the high risk for Type 2 diabetes, metabolic syndrome and early cardiovasular disease. Key points for clinicians emphasized by this review are the following: PCOS is a clinical diagnosis and alternative diagnoses must be excluded; PCOS carries an inherent risk of insulin resistance and, hence, metabolic consequences for which women with PCOS should be screened regardless of BMI or degree of obesity; and PCOS is associated with infertility and this should be discussed early on in care of women diagnosed with PCOS, recognizing that there are several possible strategies to address infertility in women with PCOS, each with its own risks and benefits.

Realistic Creativity Training for Innovation Practitioners: The Know-Recognize-React Model

DEFF Research Database (Denmark)

Valgeirsdóttir, Dagný; Onarheim, Balder

2017-01-01

As creativity becomes increasingly recognized as important raw material for innovation, the importance of identifying ways to increase practitioners’ creativity through rigorously designed creativity training programs is highlighted. Therefore we sat out to design a creativity training program sp...... the transdisciplinary study described in this paper. Co-creation was employed as a method to ensure the three layers of focus would be taken into consideration. The result is a program called Creative Awareness Training which is based on the new Know-Recognize-React model.......As creativity becomes increasingly recognized as important raw material for innovation, the importance of identifying ways to increase practitioners’ creativity through rigorously designed creativity training programs is highlighted. Therefore we sat out to design a creativity training program...

Recognizing Risk and Vulnerability in Research Ethics: Imagining the "What Ifs?"

Science.gov (United States)

Peter, Elizabeth; Friedland, Judith

2017-04-01

Research ethics committees (RECs) may misunderstand the vulnerability of participants, given their distance from the field. What RECs identify as the vulnerabilities that were not adequately recognized in protocols and how they attempt to protect the perceived vulnerability of participants and mitigate risks were examined using the response letters sent to researchers by three university-based RECs. Using a critical qualitative method informed by feminist ethics, we identified an overarching theme of recognizing and responding to cascading vulnerabilities and four subthemes: identifying vulnerable groups, recognizing potentially risky research, imagining the "what ifs," and mitigating perceived risks. An ethics approach that is up-close, as opposed to distant, is needed to foster closer relationships among participants, researchers, and RECs and to understand participant vulnerability and strength better.

A practical approach for writer-dependent symbol recognition using a writer-independent symbol recognizer.

Science.gov (United States)

LaViola, Joseph J; Zeleznik, Robert C

2007-11-01

We present a practical technique for using a writer-independent recognition engine to improve the accuracy and speed while reducing the training requirements of a writer-dependent symbol recognizer. Our writer-dependent recognizer uses a set of binary classifiers based on the AdaBoost learning algorithm, one for each possible pairwise symbol comparison. Each classifier consists of a set of weak learners, one of which is based on a writer-independent handwriting recognizer. During online recognition, we also use the n-best list of the writer-independent recognizer to prune the set of possible symbols and thus reduce the number of required binary classifications. In this paper, we describe the geometric and statistical features used in our recognizer and our all-pairs classification algorithm. We also present the results of experiments that quantify the effect incorporating a writer-independent recognition engine into a writer-dependent recognizer has on accuracy, speed, and user training time.

Metabolic syndrome and polycystic ovary syndrome: an intriguing overlapping.

Science.gov (United States)

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

2014-06-01

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

Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview

NARCIS (Netherlands)

de Maria, Beatrice; Mazzanti, Laura; Roche, Nathalie; Hennekam, Raoul C.

2016-01-01

Barber-Say syndrome (BSS) and Ablepharon-Macrostomia syndrome (AMS) are congenital malformation syndromes caused by heterozygous mutations in TWIST2. Here we provide a critical review of all patients published with these syndromes. We excluded several earlier reports due to misdiagnosis or

Autosomal dominant syndrome resembling Coffin-Siris syndrome.

Science.gov (United States)

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.