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Sample records for 1-associated periodic syndrome

  1. [Periodic fever syndrome/autoinflammatory syndrome].

    PubMed

    Kötter, I; Schedel, J; Kümmerle-Deschner, J B

    2009-03-01

    Hereditary periodic fever syndromes (autoinflammatory syndromes) are characterised by relapsing fevers and additional manifestations such as skin rashes, mucosal manifestations, and joint pain. Some of these disorders only present with organ manifestations and serological signs of inflammation without obvious fever (e.g. PAPA and Blau syndrome). There is a strong serological inflammatory response with an elevation of serum amyloid A (risk of secondary amyloidosis). There are monogenic disorders for which the mode of inheritance and gene mutation are known, but probably also polygenic diseases which present with similar symptoms to the classic autoinflammatory syndromes. Gene mutations have been described for the monogenic disorders (FMF, HIDS, CAPS, PAPA and Blau syndrome), which lead to an induction of the production of IL-1ss. Therapeutically, the IL-1-receptor antagonist anakinra is mainly used. In the case of TRAPS and Blau syndrome, TNF antagonists may also be used. PFAPA syndrome, the Schnitzler syndrome, Still's disease of adult and pediatric onset, Behçet's disaese and Crohn's disease also are mentioned as additional possible autoinflammatory syndromes. PMID:19255765

  2. [HELLP syndrome in the postpartum period].

    PubMed

    Krzemie?-Wiczy?ska, Swiet?ana; Mikaszewska-Sokolewicz, Ma?gorzata; Bablok, Leszek; Mayzner-Zawadzka, Ewa

    2005-05-01

    The HELLP syndrome was described by Weinstein as a complication of pregnancy induced hypertension (PIH). There are few clinical reports about HELLP during postpartum period. We present the history of 31 years old pregnant patient, who developed in 36 week of her first pregnancy PIH, pregnancy was terminated in 39 week by cesarean section and postpartum period was complicated with HELLP syndrome (class I). The patient was treated surgically (hysterectomy), than continue at ICU. The treatment was successful without any late organ complications. PMID:16145859

  3. [Hyperimmunoglobulinemia D and periodic fever syndrome].

    PubMed

    Sakai, Hidemasa; Heike, Toshio

    2011-01-01

    Hyperimmunogloblinemia D and periodic fever syndrome (HIDS) is inherited autoinflammatory syndrome caused by deficiency of the mevalonate kinase (MK), which is involved in metabolism of cholesterol. The disease is characterized as periodic fever from early infancy accompanied by elevated serum C-reactive protein. Since clinical symptoms such as abdominal symptom, skin rash, and arthritis are common to other autoinflammatory disease, the diagnosis of HIDS during clinical work is difficult for the physicians without suspicion of HIDS for infants suffering from fever of unknown origin. Moreover, serum IgD levels are not high during infancy conflicting to the name of the disease, which is often misunderstood in the clinicians. Thus, the diagnosis of HIDS in Japan is bothering, depending on the lack of correct recognition of the disease and on the lack of commercially available examination for the disease. It is important for clinicians, especially pediatricians to update current knowledge about HIDS and to learn the appropriate way to the definitive diagnosis of HIDS, because HIDS patients exist also in Japan and the specific therapies for HIDS would be developed in the near future. PMID:22041426

  4. Clinical Genetic Testing of Periodic Fever Syndromes

    PubMed Central

    Marcuzzi, Annalisa; Piscianz, Elisa; Kleiner, Giulio; Tommasini, Alberto; Severini, Giovanni Maria; Monasta, Lorenzo; Crovella, Sergio

    2013-01-01

    Periodic fever syndromes (PFSs) are a wide group of autoinflammatory diseases. Due to some clinical overlap between different PFSs, differential diagnosis can be a difficult challenge. Nowadays, there are no universally agreed recommendations for most PFSs, and near half of patients may remain without a genetic diagnosis even after performing multiple-gene analyses. Molecular analysis of periodic fevers' causative genes can improve patient quality of life by providing early and accurate diagnosis and allowing the administration of appropriate treatment. In this paper we focus our discussion on effective usefulness of genetic diagnosis of PFSs. The aim of this paper is to establish how much can the diagnostic system improve, in order to increase the success of PFS diagnosis. The mayor expectation in the near future will be addressed to the so-called next generation sequencing approach. Although the application of bioinformatics to high-throughput genetic analysis could allow the identification of complex genotypes, the complexity of this definition will hardly result in a clear contribution for the physician. In our opinion, however, to obtain the best from this new development a rule should always be kept well in mind: use genetics only to answer specific clinical questions. PMID:23484126

  5. [Hereditary systemic autoinflammatory diseases. Hereditary periodic fever syndromes].

    PubMed

    Aróstegui, Juan I; Yagüe, Jordi

    2007-07-14

    Systemic autoinflammatory diseases are an heterogeneous group of systemic disorders clinically characterized by recurrent or persistent inflammatory episodes, which occur in the absence of infectious, neoplastic or autoimmune etiology. During the past years, genetic defects affecting different proteins involved in the regulation of inflammatory processes have been identified in these diseases. These advances offer new genetic tools to clinicians, in order to achieve an accurate and definitive diagnostic, and to establish a tailored treatment. Present review is an updated and comprehensive overview on hereditary systemic autoinflammatory diseases, and it has been organized in 2 separate and independent parts. The first of them will introduce the group of hereditary periodic fever syndromes, which includes familial Mediterranean fever, hyperimmunoglobulinemia D with periodic fever syndrome (HIDS), and tumour necrosis factor receptor-associated periodic syndrome (TRAPS). PMID:17683710

  6. Secondary Sjogren's syndrome presenting with hypokalemic periodic paralysis

    PubMed Central

    Dormohammadi Toosi, Taraneh; Naderi, Neda; Movassaghi, Shafieh; Seradj, Mehran Heydari; Khalvat, Ali; Shahbazi, Fatemeh

    2014-01-01

    Renal tubular acidosis (RTA) may develop in a large population of patients with Sjogren's syndrome (SS), but most of the subjects are asymptomatic. Here, we report a patient with known rheumatoid arthritis and symptoms of xerostomia, xerophthalmia and periodic paralysis. SS should be considered as a cause of RTA. The treatment of the underlying disorder may ameliorate the symptoms. PMID:25988057

  7. Measuring the rotation periods of 4-10 Myr T-Tauri stars in the Orion OB1 association

    NASA Astrophysics Data System (ADS)

    Tanveer Karim, Md; Stassun, Keivan; Briceno, Cesar; Vivas, Kathy; Raetz, Stefanie; Calvet, Nuria; Mateu, Cecilia; Downes, Juan Jose; Hernandez, Jesus; Neuhäuser, Ralph; Mugrauer, Markus; Takahashi, Hidenori; Tachihara, Kengo; Chini, Rolf; YETI

    2016-01-01

    Most existing studies of young stellar populations have focused on the youngest (< 2-3 Myr) T-Tauri stars, which are usually associated with their natal gas and hence easier to identify. In contrast, older T-Tauri stars (~ 4-10 Myr), being more difficult to find, have been less studied, even though they hold key insight to understanding evolution of lower-mass (0.1-2 M?) stars and of protoplanetary discs. We present a study of photometric variability of 1974 confirmed 4-10 Myr old T-Tauri stars in the Orion OB1 association using optical time-series from three different surveys: the Centro de Investigaciones de Astronomía-Quest Equatorial Survey Team (CIDA-QUEST), the Young Exoplanet Transit Initiative (YETI) and from a Kitt Peak National Observatory (KPNO) campaign. We investigated stellar rotation periods according to the type of stars (Classical or Weak-lined T-Tauri stars) and their locations, to look for population-wide trends. We detected 563 periodic variables and 1411 non-periodic variables by investigating the light curves of these stars. We find that ~ 30% of Weak-line T-Tauri stars (WTTS) and ~ 20% of Classical T-Tauri stars (CTTS) are periodic. Though we did not find any noticeable difference in rotation period between CTTS and WTTS, our study does show a change in the overall rotation periods of stars 4-10 Myr old, consistent with predictions of angular momentum evolution models, an important constraint for theoretical models for an age range for which no similar data existed.

  8. Interleukin 6 blockade for hyperimmunoglobulin D and periodic fever syndrome.

    PubMed

    Shendi, Hiba M; Devlin, Lisa A; Edgar, John David

    2014-03-01

    Hyperimmunoglobulin D and periodic fever syndrome (HIDS) is a rare, autoinflammatory condition caused by mutations in the mevalonate kinase gene. There is no standard treatment for HIDS, and randomized controlled trials are lacking. Corticosteroids, colchicine, nonsteroidal anti-inflammatory drugs, statins, and cyclosporine are of limited efficacy in controlling this condition. Recent case reports suggest that most patients respond to etanercept or anakinra. Interleukin 6 blockade in HIDS has not been described. We report the case of a 13-year-old girl with HIDS, who failed to respond to colchicine, corticosteroids, etanercept, and anakinra but was successfully treated with the anti-IL-6 monoclonal antibody, tocilizumab. PMID:24561416

  9. Novel mutations causing hyperimmunoglobulin D and periodic fever syndrome.

    PubMed

    Sinha, Aditi; Waterham, Hans R; Sreedhar, K Vijesh; Jain, Vandana

    2012-07-01

    Hyperimmunoglobulin D and periodic fever syndrome (HIDS) is a rare, hereditary autoinflammatory condition characterized by recurrent inflammatory episodes. We report a 9-year-old boy, diagnosed with HIDS due to two novel mutations, c.62C>T (p.Ala21Val) and c.372-6T>C (probable splicing defect), in the mevalonate kinase (MVK) gene. The pathogenicity of these mutations was confirmed by measurement of low MVK enzyme activity in cultured primary skin fibroblasts of the patient. The symptoms have been refractory to therapy with steroids and non steroidal anti inflammatory drugs. This report expands the genetic and ethnic spectrum of HIDS. PMID:22885443

  10. Periodic Fever and Neutrophilic Dermatosis: Is It Sweet's Syndrome?

    PubMed

    Assari, Raheleh; Ziaee, Vahid; Parvaneh, Nima; Moradinejad, Mohammad-Hassan

    2014-01-01

    A 7-year-old boy with high grade fever (39°C) and warm, erythematous, and indurated plaque above the left knee was referred. According to the previous records of this patient, these indurated plaques had been changed toward abscesses formation and then spontaneous drainage had occurred after about 6 to 7 days, and finally these lesions healed with scars. In multiple previous admissions, high grade fever, leukocytosis, and a noticeable increase in erythrocyte sedimentation rate and C-reactive protein were noted. After that, until 7th year of age, he had shoulder, gluteal, splenic, kidney, and left thigh lesions and pneumonia. The methylprednisolone pulse (30?mg/kg) was initiated with the diagnosis of Sweet's syndrome. After about 10-14 days, almost all of the laboratory data regressed to nearly normal limits. After about 5 months, he was admitted again with tachypnea and high grade fever and leukocytosis. After infusion of one methylprednisolone pulse, the fever and tachypnea resolved rapidly in about 24 hours. In this admission, colchicine (1?mg/kg) was added to the oral prednisolone after discharge. In the periodic fever and neutrophilic dermatosis, the rheumatologist should search for sterile abscesses in other organs. PMID:25544911

  11. Periodic Fever and Neutrophilic Dermatosis: Is It Sweet's Syndrome?

    PubMed Central

    Assari, Raheleh; Parvaneh, Nima; Moradinejad, Mohammad-Hassan

    2014-01-01

    A 7-year-old boy with high grade fever (39°C) and warm, erythematous, and indurated plaque above the left knee was referred. According to the previous records of this patient, these indurated plaques had been changed toward abscesses formation and then spontaneous drainage had occurred after about 6 to 7 days, and finally these lesions healed with scars. In multiple previous admissions, high grade fever, leukocytosis, and a noticeable increase in erythrocyte sedimentation rate and C-reactive protein were noted. After that, until 7th year of age, he had shoulder, gluteal, splenic, kidney, and left thigh lesions and pneumonia. The methylprednisolone pulse (30?mg/kg) was initiated with the diagnosis of Sweet's syndrome. After about 10–14 days, almost all of the laboratory data regressed to nearly normal limits. After about 5 months, he was admitted again with tachypnea and high grade fever and leukocytosis. After infusion of one methylprednisolone pulse, the fever and tachypnea resolved rapidly in about 24 hours. In this admission, colchicine (1?mg/kg) was added to the oral prednisolone after discharge. In the periodic fever and neutrophilic dermatosis, the rheumatologist should search for sterile abscesses in other organs. PMID:25544911

  12. A Case of Hyper IgD and Periodic Fever Syndrome in Japan.

    PubMed

    Kawashima, Hisashi; Hoshi, Akiyoshi; Ioi, Hiroaki; Ishii, Chiako; Sato, Satoshi; Kashiwagi, Yasuyo; Takekuma, Kouji; Hoshika, Akinori

    2008-01-01

    We report a four-year-old Japanese girl with hyper IgD and periodic fever syndrome. There is a first report of hyper IgD syndrome (HIDS) of which the genomic study was done in Japan. In this report a girl complained of periodic fever and abdominal symptoms accompanied with high levels of mevalonic acid in urine and serum. She has been well controlled by non-steroidal anti-inflammatory drugs (NSAIDs) for 3 years. PMID:24179342

  13. Diagnosis of cryopyrin-associated periodic syndrome: challenges, recommendations and emerging concepts.

    PubMed

    Sarrabay, Guillaume; Grandemange, Sylvie; Touitou, Isabelle

    2015-01-01

    Cryopyrin-associated periodic syndrome are rare autosomal dominantly inherited diseases. They include three overlapping phenotypes: familial cold autoinflammatory syndrome, Muckle-Wells syndrome, and chronic infantile neurological cutaneous articular syndrome/neonatal onset multisystem autoinflammatory syndrome (NOMID/CINCA). Recurrent fevers, joint pain, and urticarial skin rash are the main clinical features of these conditions. Renal amyloidosis and sensorineural complications may occur. Gain-of-function mutations in NLRP3 gene are responsible for the overactivation of the NLRP3 inflammasome, a multimolecular complex involved in the inflammatory process. Missense mutations are almost always encountered, particularly in exon 3, which encodes the nucleotide-binding domain. Mosaicism is not rare, especially in CINCA/NOMID. Next-generation sequencing will grant access to new insights about NLRP3 implication in oligogenic and multifactorial diseases. PMID:25979514

  14. Hyperimmunoglobulinemia D and periodic fever syndrome; treatment with etanercept and follow-up.

    PubMed

    Topalo?lu, Rezan; Ayaz, Nuray Aktay; Waterham, Hans R; Yüce, Aysel; Gumruk, Fatma; Sanal, Ozden

    2008-10-01

    The hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) is an autoinflammatory syndrome. It is caused by the mutations of the mevalonate kinase gene. There is no consensus for specific therapy of HIDS, but there are some case reports and studies in regards to its treatment with drugs like colchicine, steroids, nonsteroid anti-inflammatory drugs, simvastatin, anakinra, thalidomide, and etanercept. We are reporting a case evaluated for the complaints of abdominal pain and febrile episodes with massive hepatomegaly, not common finding on physical examination, its treatment with etanercept, and long-term follow-up. PMID:18506569

  15. Changes in Yearly Birth Prevalence Rates of Children with Down Syndrome in the Period 1986-2007 in the Netherlands

    ERIC Educational Resources Information Center

    de Graaf, G.; Haveman, M.; Hochstenbach, R.; Engelen, J.; Gerssen-Schoorl, K.; Poddighe, P.; Smeets, D.; van Hove, G.

    2011-01-01

    Background: The Netherlands are lacking reliable national empirical data in relation to the development of birth prevalence of Down syndrome. Our study aims at assessing valid national live birth prevalence rates for the period 1986-2007. Method: On the basis of the annual child/adult ratio of Down syndrome diagnoses in five out of the eight Dutch…

  16. A hepatic cancer patient with Guillain-Barré syndrome during the perioperative period of partial hepatectomy: a case report

    PubMed Central

    Zeng, Su-Dan; Ye, Bin; Liang, Zhi-Jian

    2015-01-01

    We reported a case of hepatic cancer patient with Guillain-Barré syndrome during the perioperative period of partial hepatectomy in the present study. We analyzed the clinical data and described the characteristics of this patient. PMID:26550403

  17. Etanercept and anakinra can prolong febrile episodes in patients with hyperimmunoglobulin D and periodic fever syndrome.

    PubMed

    Shendi, Hiba M; Walsh, Deirdre; Edgar, J David M

    2012-01-01

    Hyperimmunoglobulin D and periodic fever syndrome (HIDS) is a rare, hereditary autoinflammatory condition, characterized by recurrent inflammatory episodes. There is no proven treatment for HIDS, but various drugs including, non-steroidal anti-inflammatory drugs, colchicine, steroids, statins and thalidomide have all been tried. Recently, some patients have demonstrated a good clinical response to either etanercept or anakinra. We report a case of a 10-year-old girl who experienced prolonged and severe inflammatory attacks, when she was treated with etanercept, and later with anakinra. PMID:20020131

  18. Restless legs syndrome and periodic limb movements of sleep: fact, fad, and fiction.

    PubMed

    Patel, Sanjiv

    2002-11-01

    Restless legs syndrome (RLS) and periodic limb movements of sleep (PLMS) are common disorders seen in sleep disorder centers. Although RLS in universally thought to cause daytime sleepiness, the role of PLMS in causing sleepiness (or any symptom!) has been more controversial. Recent publications have show that PLMS do not cause either subjective or objective sleepiness, but may be a marker for respiratory effort related arousals. In regards to patients with end-stage renal disease, PLMS may mark mortality. In this same group of patients, gabapentin and normalization of hematocrit may be effective therapies for RLS/PLMS. Melatonin may prove to be an alternative therapy for PLMS. PMID:12394156

  19. A novel mutation in TNFRSF1A associated with overlapping features of tumor necrosis factor receptor-associated periodic syndrome and hyper-IgD syndrome.

    PubMed

    Saulsbury, F T; Remmers, E F; Aksentijevich, I

    2010-01-01

    We describe a 10-year-old child with a novel mutation, c.352A>G/p.Thr118Ala (T89A) in the tumour necrosis factor receptor superfamily 1A (TNFRSF1A) gene. The patient presented with periodic fevers beginning at 2 years of age. He had overlapping clinical and laboratory features of tumour necrosis factor receptor-associated periodic syndrome (TRAPS) and hyper-IgD syndrome (HIDS). This patient expands the clinical and genetic spectrum of TRAPS. PMID:20346247

  20. Periodic Fever, Aphthous Stomatitis, Pharyngitis and Cervical Adenitis (PFAPA) Syndrome in Iranian Children First Report of Iranian Periodic Fever and Autoinflammatory Registry (IPFAIR)

    PubMed Central

    Mehregan, Fatemeh Fereshteh; Ziaee, Vahid; Ahmadinejad, Zahra; Tahghighi, Fatemeh; Sabouni, Farah; Moradinejad, Mohamad-Hassan

    2014-01-01

    Objective: The periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome is a nonhereditary idiopathic febrile syndrome belonging to the group of autoinflammatory diseases. No longtime sequel was reported in this disease. Early diagnosis can lead physicians to treatment of this disorder with a short course steroid application and provide satisfaction of the patient’s family. Methods: This study is a prospective review of patients diagnosed with PFAPA syndrome who were registered in Iranian Periodic Fever and Autoinflammatory Registry (IPFAIR) through periodic fever clinic in the Children's Medical Center, Pediatric Center of Excellence in Tehran, Iran from January 2013 to March 2014. Findings: One hundred thirty patients were registered in our databases. Twenty-one (16.1%) patients including 15 males and 6 females had PFAPA. Normal growth was seen in all patients. The median age at onset was 18 months. The mean duration of fever was 4 days and the mean duration of intervals between fever episodes 21 days. Along with fever, all patients had characteristic symptoms. All patients were asymptomatic between fever episodes. Steroid was used in all patients and causing immediate reduction by 84.61%. Two patients received both steroid and colchicine because of their clinical feature and positive laboratory tests for PFAPA and familial Mediterranean fever. No patient received biological therapy or a tonsillectomy. Conclusion: The long diagnostic delay of PFAPA gives cause to concern indicating a need for greater awareness of the disease so that the diagnosis may be made timely. PMID:25793068

  1. Circadian rhythm of periodic limb movements and sensory symptoms of restless legs syndrome.

    PubMed

    Trenkwalder, C; Hening, W A; Walters, A S; Campbell, S S; Rahman, K; Chokroverty, S

    1999-01-01

    The symptoms of restless legs syndrome (RLS) worsen while patients are sitting or lying and also worsen at night. The current study was designed to determine if the periodic limb movements (PLMs) and sensory symptoms of RLS are modulated by an independent circadian factor. We recorded sleeping and waking PLMs and waking sensory symptoms in eight volunteers with RLS for 3 successive nights and days, starting with a polysomnographic recording of 2 nights, followed by a third night of sleep deprivation and the day after sleep deprivation. This study showed that both the PLMs and sensory symptoms were worst at night with a maximum for both between midnight and 1:00 AM and a minimum between 9:00 and 11:00 AM. Sleep and drowsiness had a tendency to worsen PLMs and sensory symptoms after the night of sleep deprivation. Circadian temperature curves were normal in all four patients with adequate data collection. The highest PLM counts occurred on the falling phase of the circadian temperature curve whereas the lowest PLM counts occurred on the rising phase of the curve. We conclude that the PLM and sensory symptoms in RLS are influenced by a circadian rhythm, and that the "worsening at night" criterion of the RLS Definition Criteria is, at least in part, distinct from the "worsening while lying or sitting" criterion. PMID:9918351

  2. Novel mutations of MVK gene in Japanese family members affected with hyperimmunoglobulinemia D and periodic fever syndrome.

    PubMed

    Mizuno, Takahisa; Sakai, Hidemasa; Nishikomori, Ryuta; Oshima, Koichi; Ohara, Osamu; Hata, Ikue; Shigematsu, Yosuke; Ishige, Takashi; Tamura, Kazushi; Arakawa, Hirokazu

    2012-12-01

    Hyperimmunoglobulinemia D with periodic fever syndrome (HIDS) is a recessively inherited recurrent fever syndrome. We describe a family of eldest son and monozygotic twin younger sisters with characteristic syndrome of HIDS, but normal level of IgD. Mevalonate kinase (MK) activity was deficient in all of them, and analysis of the MVK gene revealed compound heterozygosity for 2 new mutations, one of which was the disease-causing splicing mutation and the other was a novel missense mutation. All the patients had the same compound heterozygous mutations c.227-1 G > A and c.833 T > C, which resulted in exon 4 skipping and p.Val278Ala. This is the first case in which exon skipping mutation of the MVK gene has been certainly identified at the genomic DNA level. In each case, in which HIDS is clinically suspected, despite normal IgD level, analysis of MK activity and the MVK gene should be performed. PMID:22159817

  3. Posterior reversible encephalopathy syndrome during the peripartum period: report of four cases and review of the literature

    PubMed Central

    Buyukaslan, Hasan; Lok, Ugur; Gulacti, Umut; Sogut, Ozgur; Kaya, Halil; Gokdemir, Tahir; Yalin, Oner

    2015-01-01

    Posterior reversible encephalopathy syndrome (PRES) is a cliniconeuroradiologic disorder affecting the brain’s occipital and parietal lobes characterized by altered mental status, seizures, headache and blurred vision. Eclampsia is one of the main causes of posterior reversible encephalopathy. We aimed to discuss here literature guided clinical and radiologic findings of four women who had experienced status epilepticus at peripartum period and diagnosed as PRES. PMID:25932085

  4. A pro-inflammatory signalome is constitutively activated by C33Y mutant TNF receptor 1 in TNF receptor-associated periodic syndrome (TRAPS)

    PubMed Central

    Negm, Ola H; Mannsperger, Heiko A; McDermott, Elizabeth M; Drewe, Elizabeth; Powell, Richard J; Todd, Ian; Fairclough, Lucy C; Tighe, Patrick J

    2014-01-01

    Mutations in TNFRSF1A encoding TNF receptor 1 (TNFR1) cause the autosomal dominant TNF receptor-associated periodic syndrome (TRAPS): a systemic autoinflammatory disorder. Misfolding, intracellular aggregation, and ligand-independent signaling by mutant TNFR1 are central to disease pathophysiology. Our aim was to understand the extent of signaling pathway perturbation in TRAPS. A prototypic mutant TNFR1 (C33Y), and wild-type TNFR1 (WT), were expressed at near physiological levels in an SK-Hep-1 cell model. TNFR1-associated signaling pathway intermediates were examined in this model, and in PBMCs from C33Y TRAPS patients and healthy controls. In C33Y-TNFR1-expressing SK-Hep-1 cells and TRAPS patients’ PBMCs, a subtle, constitutive upregulation of a wide spectrum of signaling intermediates and their phosphorylated forms was observed; these were associated with a proinflammatory/antiapoptotic phenotype. In TRAPS patients’ PBMCs, this upregulation of proinflammatory signaling pathways was observed irrespective of concurrent treatment with glucocorticoids, anakinra or etanercept, and the absence of overt clinical symptoms at the time that the blood samples were taken. This study reveals the pleiotropic effect of a TRAPS-associated mutant form of TNFR1 on inflammatory signaling pathways (a proinflammatory signalome), which is consistent with the variable and limited efficacy of cytokine-blocking therapies in TRAPS. It highlights new potential target pathways for therapeutic intervention. PMID:24668260

  5. Cauda equina syndrome as a rare manifestation of leukemia relapse during postallograft period.

    PubMed Central

    Onal, Ibrahim Koral; Shorbagi, Ali; Göker, Hakan; Büyükasýk, Yahya; Ozçakar, Levent; Tufan, Abdurrahman; Aksu, Salih; Haznedaroglu, Ybrahim C.

    2006-01-01

    Here we report a 41-year-old woman with the diagnosis of acute myeloid leukemia. While being followed on remission after allogeneic peripheral blood stem cell transplantation, she developed systemic and central nervous system (CNS) relapse. CNS involvement presented first with meningeal irritation signs and then with cauda equina syndrome (CES). We define an interesting presentation of CES as abdominal pain and discuss the rare coexistence of the syndrome and leukemia under the light of the pertinent literature. Images Figure 1 PMID:16749661

  6. [Molecular diagnostics of hereditary fever syndromes. Familial Mediterranean fever (FMF), hyperimmunoglobulin D syndrome (HIDS), tumor necrosis factor receptor-associated periodic syndrome (TRAPS), cryopyrin-associated periodic syndrome (CAPS: FCAS, MWS, NOMID/CINCA)].

    PubMed

    Timmann, C; Horstmann, R

    2009-11-01

    Periodic episodes of fever and inflammation can have a genetic origin. Nowadays, the identification of the causative genetic variants in the majority of cases allows molecular genetic confirmation of the clinical diagnosis, which enables approaches with specific drug treatment and improves patient compliance as well as genetic counseling. Besides a detailed clinical examination a medical history including family history and an assessment of the ethnic origin are required. In order to make genetic testing straightforward and cost effective an iterative procedure should be followed which should include, in addition to clinical data, the frequencies of causative mutations in the various gene segments involved. PMID:19830438

  7. Methodological challenges in monitoring new treatments for rare diseases: lessons from the cryopyrin-associated periodic syndrome registry

    PubMed Central

    2013-01-01

    Background The Cryopyrin-Associated Periodic Syndromes (CAPS) are a group of rare hereditary autoinflammatory diseases and encompass Familial Cold Autoinflammatory Syndrome (FCAS), Muckle-Wells Syndrome (MWS), and Neonatal Onset Multisystem Inflammatory Disease (NOMID). Canakinumab is a monoclonal antibody directed against IL-1 beta and approved for CAPS patients but requires post-approval monitoring due to low and short exposures during the licensing process. Creative approaches to observational methodology are needed, harnessing novel registry strategies to ensure Health Care Provider reporting and patient monitoring. Methods A web-based registry was set up to collect information on long-term safety and effectiveness of canakinumab for CAPS. Results Starting in November 2009, this registry enrolled 241 patients in 43 centers and 13 countries by December 31, 2012. One-third of the enrolled population was aged?

  8. Remission of severe restless legs syndrome and periodic limb movements in sleep after bilateral excision of multiple foot neuromas: a case report

    PubMed Central

    2010-01-01

    Introduction Restless legs syndrome is a sensorimotor neurological disorder characterized by an urge to move the legs in response to uncomfortable leg sensations. While asleep, 70 to 90 percent of patients with restless legs syndrome have periodic limb movements in sleep. Frequent periodic limb movements in sleep and related brain arousals as documented by polysomnography are associated with poorer quality of sleep and daytime fatigue. Restless legs syndrome in middle age is sometimes associated with neuropathic foot dysesthesias. The causes of restless legs syndrome and periodic limb movements in sleep are unknown, but the sensorimotor symptoms are hypothesized to originate in the central nervous system. We have previously determined that bilateral forefoot digital nerve impingement masses (neuromas) may be a cause of both neuropathic foot dysesthesias and the leg restlessness of restless legs syndrome. To the best of our knowledge, this case is the first report of bilateral foot neuromas as a cause of periodic limb movements in sleep. Case presentation A 42-year-old Caucasian woman with severe restless legs syndrome and periodic limb movements in sleep and bilateral neuropathic foot dysesthesias was diagnosed as having neuromas in the second, third, and fourth metatarsal head interspaces of both feet. The third interspace neuromas represented regrowth (or 'stump') neuromas that had developed since bilateral third interspace neuroma excision five years earlier. Because intensive conservative treatments including repeated neuroma injections and various restless legs syndrome medications had failed, radical surgery was recommended. All six neuromas were excised. Leg restlessness, foot dysesthesias and subjective sleep quality improved immediately. Assessment after 18 days showed an 84 to 100 percent reduction of visual analog scale scores for specific dysesthesias and marked reductions of pre-operative scores of the Pittsburgh sleep quality index, fatigue severity scale, and the international restless legs syndrome rating scale (36 to 4). Polysomnography six weeks post-operatively showed improved sleep efficiency, a marked increase in rapid eye movement sleep, and marked reductions in hourly rates of both periodic limb movements in sleep with arousal (135.3 to 3.3) and spontaneous arousals (17.3 to 0). Conclusion The immediate and near complete remission of symptoms, the histopathology of the excised tissues, and the marked improvement in polysomnographic parameters documented six weeks after surgery together indicate that this patient's severe restless legs syndrome and periodic limb movements in sleep was of peripheral nerve (foot neuroma) origin. Further study of foot neuromas as a source of periodic limb movements in sleep and as a cause of sleep dysfunction in patients with or without concomitant restless legs syndrome, is warranted. PMID:20849622

  9. Determination of rifaximin treatment period according to lactulose breath test values in nonconstipated irritable bowel syndrome subjects.

    PubMed

    Bae, Suhyun; Lee, Kwang Jae; Kim, Young-Sang; Kim, Kyu-Nam

    2015-06-01

    Small intestinal bacterial overgrowth (SIBO) can partly explain irritable bowel syndrome (IBS), and rifaximin has been observed to improve abdominal symptoms in nonconstipated IBS patients. However, there are few reports on the association of the rifaximin treatment periods with the results of a lactulose breath test (LBT). Therefore, we performed a retrospective review of patient charts to investigate the relation between the rifaximin treatment periods with LBT results in nonconstipated IBS patients. We also evaluated the time to achieve a symptomatic improvement in the IBS patients as compared to the changes in the LBT. We reviewed the charts for patients who showed IBS symptoms with documented positive results for LBT during their initial visit and who had a follow-up LBT after treatment with rifaximin. The LBT values were compared to the subjects' symptom scores. A total of 102 subjects had a follow-up LBT to assess LBT normalization. The subjects were divided into groups according to treatment periods of 4 weeks (n = 36), 8 weeks (n = 43), and 12 weeks (n = 23). The groups with a longer treatment exhibited an increase in the hydrogen gas value at 90 min and its sum during 90 min at the initial LBT. There were significant differences in hydrogen gas value at 90 min and in its sum during 90 min at the initial LBT between the groups treated for 4 and 12 weeks. The most significant treatment response was observed during the first 4 weeks for all treatment groups. Symptomatic improvement occurred earlier than LBT normalization in the treatment period over 4 weeks. The results indicate that different rifaximin treatment periods are needed in accordance with LBT levels to effectively eradicate SIBO. PMID:26028929

  10. Abnormal IgD and IgA1 O-glycosylation in hyperimmunoglobulinaemia D and periodic fever syndrome.

    PubMed

    de Wolff, Jacob F; Dickinson, Stephen J; Smith, Alice C; Molyneux, Karen; Feehally, John; Simon, Anna; Barratt, Jonathan

    2009-12-01

    In order to determine the glycosylation pattern for IgD, and to examine whether there are changes in the pattern of IgD and IgA1 O-glycosylation in patients with hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS) during acute febrile attacks and during periods of quiescence, serum was obtained from 20 patients with HIDS and 20 control subjects. In the HIDS group, serum was obtained either during an acute febrile episode (n = 9) or during a period of quiescence (n = 11). The O-glycosylation profiles of native and desialylated IgA1 and IgD were measured in an ELISA-type system using the lectins Helix aspersa and peanut agglutinin, which bind to alternative forms of O-glycan moieties. IgD is more heavily O-galactosylated and less O-sialylated than IgA1 in healthy subjects. HIDS is associated with more extensive O-galactosylation of IgD and a reduction in O-sialylation of both IgD and IgA1. These changes are present both during acute febrile attacks and periods of quiescence. The T cell IgD receptor is a lectin with binding affinity for the O-glycans of both IgD and IgA1. The observed changes in IgD and IgA1 O-glycosylation are likely to have a significant effect on IgD/IgA1-T cell IgD receptor interactions including basal immunoglobulin synthesis, and possibly myeloid IgD receptor-mediated cytokine release. PMID:19543954

  11. Comparison of early postoperative period electrophysiological and clinical findings following carpal tunnel syndrome: is EMG necessary?

    PubMed Central

    Aksekili, Mehmet At?f Erol; Biçici, Vedat; I??k, Çetin; Aksekili, Hatice; U?urlu, Mahmut; Akkurt, Adem; Do?an, Metin

    2015-01-01

    Background: In this study, we aimed to compare the clinical findings and ENMG results of the patients who underwent surgery due to CTS, in the preoperative and early postoperative period. Methods: 33 wrists of 29 patients who underwent open carpal tunnel surgery in our clinic due to CTS, between 2009 and 2011, were evaluated. Electrophysiological progress was evaluated with ENMG and clinical state with Boston scale. Results: A significant decrease was observed in the postoperative BS symptomatic (SSS) and functional (FSS) scores of patients as compared to preoperative period (P=0.00), In the electrophysiological findings, statistically significant improvement was observed in all groups but very severe CTS group (P<0.05). When preoperative and postoperative EMG findings were compared, changes in DSL and DSA values were statistically significant (P<0.05). However, no statistically significant difference was seen between DML (P=0.085) and DMA (P=246) values on the 3rd month. When an examination was conducted on the patients whose DML and DSL values could not be obtained in the preoperative EMG, DML values were obtained in the early postoperative period in 6 of 7 cases (85.71% P<0.001), and DSL values were obtained in 17 of 24 cases (70.8% P<0.000). Conclusions: Sensory nerve findings were more significant, showed faster recovery compared to motor nerve findings, and accompanied the clinical recovery. Performance of an EMG test, especially on sensory nerves, will be more effective in patients selected in the early period, with the exception of patients with very severe CTS. PMID:26309691

  12. Comparison of early postoperative period electrophysiological and clinical findings following carpal tunnel syndrome: is EMG necessary?

    PubMed Central

    Aksekili, Mehmet At?f Erol; Biçici, Vedat; I??k, Çetin; Aksekili, Hatice; U?urlu, Mahmut; Do?an, Metin

    2015-01-01

    In this study, we aimed to compare the clinical findings and ENMG results of the patients who underwent surgery due to CTS, in the preoperative and early postoperative period. Methods: 33 wrists of 29 patients who underwent open carpal tunnel surgery in our clinic due to CTS, between 2009 and 2011, were evaluated. Electrophysiological progress was evaluated with ENMG and clinical state with Boston scale. Results: A significant decrease was observed in the postoperative BS symptomatic (SSS) and functional (FSS) scores of patients as compared to preoperative period (P=0.00). In the electrophysiological findings, statistically significant improvement was observed in all groups but very severe CTS group (P<0.05). When preoperative and postoperative EMG findings were compared, changes in DSL and DSA values were statistically significant (P<0.05). However, no statistically significant difference was seen between DML (P=0.085) and DMA (P=246) values on the 3rd month. When an examination was conducted on the patients whose DML and DSL values could not be obtained in the preoperative EMG, DML values were obtained in the early postoperative period in 6 of 7 cases (85.71%, P<0.001), and DSL values were obtained in 17 of 24 cases (70.8%, P<0.000). Conclusions: Sensory nerve findings were more significant, showed faster recovery compared to motor nerve findings, and accompanied the clinical recovery. Performance of an EMG test, especially on sensory nerves, will be more effective in patients selected in the early period, with the exception of patients with very severe CTS. PMID:26131237

  13. A Novel Unstable Duplication Upstream of HAS2 Predisposes to a Breed-Defining Skin Phenotype and a Periodic Fever Syndrome in Chinese Shar-Pei Dogs

    PubMed Central

    Olsson, Mia; Mauceli, Evan; Quilez, Javier; Tonomura, Noriko; Zanna, Giordana; Docampo, Maria José; Bassols, Anna; Avery, Anne C.; Karlsson, Elinor K.; Thomas, Anne; Kastner, Daniel L.; Bongcam-Rudloff, Erik; Webster, Matthew T.; Sanchez, Armand; Hedhammar, Åke; Remmers, Elaine F.; Andersson, Leif; Ferrer, Lluis; Tintle, Linda; Lindblad-Toh, Kerstin

    2011-01-01

    Hereditary periodic fever syndromes are characterized by recurrent episodes of fever and inflammation with no known pathogenic or autoimmune cause. In humans, several genes have been implicated in this group of diseases, but the majority of cases remain unexplained. A similar periodic fever syndrome is relatively frequent in the Chinese Shar-Pei breed of dogs. In the western world, Shar-Pei have been strongly selected for a distinctive thick and heavily folded skin. In this study, a mutation affecting both these traits was identified. Using genome-wide SNP analysis of Shar-Pei and other breeds, the strongest signal of a breed-specific selective sweep was located on chromosome 13. The same region also harbored the strongest genome-wide association (GWA) signal for susceptibility to the periodic fever syndrome (praw?=?2.3×10?6, pgenome?=?0.01). Dense targeted resequencing revealed two partially overlapping duplications, 14.3 Kb and 16.1 Kb in size, unique to Shar-Pei and upstream of the Hyaluronic Acid Synthase 2 (HAS2) gene. HAS2 encodes the rate-limiting enzyme synthesizing hyaluronan (HA), a major component of the skin. HA is up-regulated and accumulates in the thickened skin of Shar-Pei. A high copy number of the 16.1 Kb duplication was associated with an increased expression of HAS2 as well as the periodic fever syndrome (p<0.0001). When fragmented, HA can act as a trigger of the innate immune system and stimulate sterile fever and inflammation. The strong selection for the skin phenotype therefore appears to enrich for a pleiotropic mutation predisposing these dogs to a periodic fever syndrome. The identification of HA as a major risk factor for this canine disease raises the potential of this glycosaminoglycan as a risk factor for human periodic fevers and as an important driver of chronic inflammation. PMID:21437276

  14. Canakinumab efficacy and long-term tocilizumab administration in tumor necrosis factor receptor-associated periodic syndrome (TRAPS).

    PubMed

    La Torre, Francesco; Muratore, Maurizio; Vitale, Antonio; Moramarco, Fulvio; Quarta, Laura; Cantarini, Luca

    2015-11-01

    Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is an autosomal dominantly inherited autoinflammatory disease caused by mutations in the TNFRSF1A gene. Treatment is aimed at preventing acute disease attacks, improving quality of life, and preventing long-term complications such as systemic reactive amyloidosis. Biologic agents have significantly improved TRAPS management. In particular, interleukin 1 (IL-1) inhibition either with the recombinant IL-1 receptor antagonist anakinra or with the human IgG1 anti-IL-1? monoclonal antibody canakinumab has recently shown to induce a prompt and stable disease remission. Conversely, the successful experience with IL-6 inhibition is nowadays limited to a single patient. Anyway, introduction of new treatment options for patients requiring a lifelong therapy is desirable. We describe two TRAPS patients (son and father) successfully treated with canakinumab and tocilizumab, respectively. In particular, we highlight the clinical and laboratory efficacy as well as the good safety profile of tocilizumab during a 42-month follow-up period. PMID:26048626

  15. [Autoinflammatory syndrome].

    PubMed

    Ida, Hiroaki; Eguchi, Katsumi

    2009-03-01

    The autoinflammatory syndromes include a group of inherited diseases that are characterized by 1) seemingly unprovoked episodes of systemic inflammations, 2) absence of high titer of autoantibody or auto-reactive T cell, and 3) inborn error of innate immunity. In this article, we will focus on the clinical features, the pathogenesis related the genetic defects, and the therapeutic strategies in the representative disorders including familial Mediterranean fever (FMF), TNF receptor associated periodic syndrome (TRAPS), cryopyrin-associated periodic syndrome (CAPS), hyper-IgD with periodic fever syndrome (HIDS), syndrome of pyogenic arthritis with pyoderma gangrenosum and acne (PAPA), and Blau syndrome. Recent advances in genetics and molecular biology have proceeded our understanding of the pathogenesis of autoinflammatory syndromes. PMID:19280943

  16. Toxic Shock Syndrome

    MedlinePLUS

    ... Toxic Shock Syndrome KidsHealth > Teens > Sexual Health > For Girls > Toxic Shock Syndrome Print A A A Text ... Is Toxic Shock Syndrome? If you're a girl who's had her period, you may have heard ...

  17. Periodic health examination, 1996 update: 1. Prenatal screening for and diagnosis of Down syndrome. Canadian Task Force on the Periodic Health Examination.

    PubMed Central

    Dick, P T

    1996-01-01

    OBJECTIVE: To make recommendations to physicians providing prenatal care on (1) whether prenatal screening for and diagnosis of Down syndrome (DS) is advisable and (2) alternative screening and diagnosis manoeuvres. OPTIONS: "Triple-marker" screening of maternal serum levels of alpha-fetoprotein, human chorionic gonadotropin and unconjugated estriol; fetal ultrasonographic examination; amniocentesis; and chorionic villus sampling (CVS). OUTCOMES: Accuracy of detection of DS in fetuses, and risks to the mother, including psychologic distress, and to the fetus from the screening and diagnostic interventions. EVIDENCE: A MEDLINE search for relevant articles published from Jan. 1, 1966, to Mar. 31, 1994, with the use of MeSH terms "Down syndrome," "prenatal diagnosis," "screening," "prevention," "amniocentesis," "chorionic villus sampling," "ultrasonography," "anxiety," "depression" and "psychological stress" and a manual search of bibliographies, recent issues of key journals and Current Contents. VALUES: The evidence-based methods and values of the Canadian Task Force on the Periodic Health Examination were used. A high value was placed on providing pregnant women with the opportunity to determine whether they are carrying a fetus with DS and to make choices concerning the termination of the pregnancy. The economic issues involved are complex and were not considered. BENEFITS, HARMS AND COSTS: Triple-marker screening identifies an estimated 58% of fetuses with DS, but it has an estimated rate of true-positive results of 0.1% and of false-positive results of 3.7% (given a risk cut-off of one chance in 190 of DS). These rates vary with maternal age and the risk cut-off chosen. Women with a known risk of having a fetus with DS (e.g., those who have had a previous child with DS) may benefit from a reduction in anxiety after confirmation that their fetus does not have DS. Screening allows women at low risk of having a child with DS to detect fetuses with the syndrome, but may cause psychologic distress if there is a false-positive screening test result. Up to 20% of women with positive results of screening tests may decline to undergo a subsequent amniocentesis. Amniocentesis and CVS are very accurate in diagnosing DS in fetuses and have a very low rate of serious complications for the mother. Amniocentesis is associated with a 1.7% rate of fetal loss when it is performed after 16 weeks' gestation, whereas the rate among controls is 0.7% (for a difference of 1%, 95% confidence interval 0.3% to 1.5%). CVS entails a greater risk of fetal loss than amniocentesis (odds ratio 1.32, 95% confidence interval 1.11 to 1.57). There is little evidence from controlled trials of significant associations between amniocentesis or CVS and neonatal morbidity or malformations; however, samples have been too small to show differences in rare outcomes. Results from some case-control studies suggest that CVS increases the risk of transverse limb deficiency. Costs were not considered because they are beyond the scope of this review. RECOMMENDATIONS: There is fair evidence to offer triple-marker screening through a comprehensive program to pregnant women under 35 years of age (grade B recommendation). Women given detailed information about serum-marker screening show more satisfaction with the screening than those not given this information. There is fair evidence to offer amniocentesis or CVS to pregnant women 35 years of age and older and to women with a history of a fetus with DS or of a chromosome 21 anomaly (grade B recommendation). Information on the limitations and advantages of each procedure should be offered. Triple-marker screening may be offered as an alternative to CVS or amniocentesis to pregnant women over 35. VALIDATION: Recommendations concerning prenatal diagnosis are similar to those of the US Preventive Services Task Force, the Society of Obstetricians and Gynaecologists of Canada, the Canadian College of Medical Geneticists and the Cochrane Pregnancy and Childbirth Group. No previous specific recommendations concerning triple-make

  18. [Autoinflammatory syndromes].

    PubMed

    Lamprecht, P; Gross, W L

    2009-06-01

    In its strict sense, the term "autoinflammatory syndromes" comprises the hereditary periodic fever syndromes (HPF), which are caused by mutations of pattern-recognition receptors (PRR) and perturbations of the cytokine balance. These include the crypyrinopathies, familial Mediterranean fever, TNF-receptor associated periodic fever syndrome (TRAPS), hyper-IgD and periodic syndrome (HIDS), pyogenic sterile arthritis, pyoderma gangrenosum and acne (PAPA) syndrome, NALP12-HPF, and the Blau syndrome. The diseases are characterized by spontaneous activation of cells of the innate immunity in the absence of ligands. Autoantibodies are usually not found. HPF clinically present with recurrent fever episodes and inflammation, especially of serosal and synovial interfaces and the skin. Intriguingly, PRR-mediated autoinflammtory mechanisms also play a role in a number of chronic inflammatory and autoimmune diseases. PMID:19434382

  19. Transient compartment-like syndrome and normokalaemic periodic paralysis due to a Ca(v)1.1 mutation.

    PubMed

    Fan, Chunxiang; Lehmann-Horn, Frank; Weber, Marc-André; Bednarz, Marcin; Groome, James R; Jonsson, Malin K B; Jurkat-Rott, Karin

    2013-12-01

    We studied a two-generation family presenting with conditions that included progressive permanent weakness, myopathic myopathy, exercise-induced contracture before normokalaemic periodic paralysis or, if localized to the tibial anterior muscle group, transient compartment-like syndrome (painful acute oedema with neuronal compression and drop foot). 23Na and 1H magnetic resonance imaging displayed myoplasmic sodium overload, and oedema. We identified a novel familial Ca(v)1.1 calcium channel mutation, R1242G, localized to the third positive charge of the domain IV voltage sensor. Functional expression of R1242G in the muscular dysgenesis mouse cell line GLT revealed a 28% reduced central pore inward current and a -20 mV shift of the steady-state inactivation curve. Both changes may be at least partially explained by an outward omega (gating pore) current at positive potentials. Moreover, this outward omega current of 27.5 nS/nF may cause the reduction of the overshoot by 13 mV and slowing of the upstroke of action potentials by 36% that are associated with muscle hypoexcitability (permanent weakness and myopathic myopathy). In addition to the outward omega current, we identified an inward omega pore current of 95 nS/nF at negative membrane potentials after long depolarizing pulses that shifts the R1242G residue above the omega pore constriction. A simulation reveals that the inward current might depolarize the fibre sufficiently to trigger calcium release in the absence of an action potential and therefore cause an electrically silent depolarization-induced muscle contracture. Additionally, evidence of the inward current can be found in 23Na magnetic resonance imaging-detected sodium accumulation and 1H magnetic resonance imaging-detected oedema. We hypothesize that the episodes are normokalaemic because of depolarization-induced compensatory outward potassium flux through both delayed rectifiers and omega pore. We conclude that the position of the R1242G residue before elicitation of the omega current is decisive for its conductance: if the residue is located below the gating pore as in the resting state then outward currents are observed; if the residue is above the gating pore because of depolarization, as in the inactivated state, then inward currents are observed. This study shows for the first time that functional characterization of omega pore currents is possible using a cultured cell line expressing mutant Ca(v)1.1 channels. Likewise, it is the first calcium channel mutation for complicated normokalaemic periodic paralysis. PMID:24240197

  20. Transient compartment-like syndrome and normokalaemic periodic paralysis due to a Cav1.1 mutation

    PubMed Central

    Fan, Chunxiang; Lehmann-Horn, Frank; Weber, Marc-André; Bednarz, Marcin; Groome, James R.; Jonsson, Malin K. B.

    2013-01-01

    We studied a two-generation family presenting with conditions that included progressive permanent weakness, myopathic myopathy, exercise-induced contracture before normokalaemic periodic paralysis or, if localized to the tibial anterior muscle group, transient compartment-like syndrome (painful acute oedema with neuronal compression and drop foot). 23Na and 1H magnetic resonance imaging displayed myoplasmic sodium overload, and oedema. We identified a novel familial Cav1.1 calcium channel mutation, R1242G, localized to the third positive charge of the domain IV voltage sensor. Functional expression of R1242G in the muscular dysgenesis mouse cell line GLT revealed a 28% reduced central pore inward current and a ?20 mV shift of the steady-state inactivation curve. Both changes may be at least partially explained by an outward omega (gating pore) current at positive potentials. Moreover, this outward omega current of 27.5 nS/nF may cause the reduction of the overshoot by 13 mV and slowing of the upstroke of action potentials by 36% that are associated with muscle hypoexcitability (permanent weakness and myopathic myopathy). In addition to the outward omega current, we identified an inward omega pore current of 95 nS/nF at negative membrane potentials after long depolarizing pulses that shifts the R1242G residue above the omega pore constriction. A simulation reveals that the inward current might depolarize the fibre sufficiently to trigger calcium release in the absence of an action potential and therefore cause an electrically silent depolarization-induced muscle contracture. Additionally, evidence of the inward current can be found in 23Na magnetic resonance imaging-detected sodium accumulation and 1H magnetic resonance imaging-detected oedema. We hypothesize that the episodes are normokalaemic because of depolarization-induced compensatory outward potassium flux through both delayed rectifiers and omega pore. We conclude that the position of the R1242G residue before elicitation of the omega current is decisive for its conductance: if the residue is located below the gating pore as in the resting state then outward currents are observed; if the residue is above the gating pore because of depolarization, as in the inactivated state, then inward currents are observed. This study shows for the first time that functional characterization of omega pore currents is possible using a cultured cell line expressing mutant Cav1.1 channels. Likewise, it is the first calcium channel mutation for complicated normokalaemic periodic paralysis. PMID:24240197

  1. A pilot study to compare the cerebral hemodynamics between patients with obstructive sleep apnea syndrome (OSA) and periodic limb movement syndrome (PLMS) during nocturnal sleep with near-infrared spectroscopy (NIRS)

    NASA Astrophysics Data System (ADS)

    Zhang, Zhongxing; Schneider, Maja; Laures, Marco; Fritschi, Ursula; Hügli, Gordana; Lehner, Isabella; Qi, Ming; Khatami, Ramin

    2014-03-01

    Obstructive sleep apnea syndrome (OSA) and periodic limb movement in sleep syndrome (PLMS) are two common sleep disorders. Previous studies showed that OSA and PLMS share common features, such as increased cardio-vascular risk, both apnea events and limb movements occur periodically, they are usually associated with cortical arousals, and both of them can induce declines in peripheral oxygen saturation measured with pulse oximetry. However, the question whether apnea events and limb movements also show similar characteristics in cerebral hemodynamic and oxygenation has never been addressed. In this pilot study, we will first time compare the cerebral hemodynamic changes induced by apnea events and limb movements in patients with OSA (n=4) and PLMS (n=4) with NIRS. In patients with OSA, we found periodic oscillations in HbO2, HHb, and blood volume induced by apnea/hypopnea events, HbO2 and HHb showed reverse changing trends. By contrast, the periodic oscillations linked to limb movements were only found in HbO2 and blood volume in patients with PLMS. These findings of different cerebral hemodynamics patterns between apnea events and limb movements may indicate different regulations of nervous system between these two sleep disorders.

  2. Reiter's syndrome.

    PubMed

    Schneider, Joseph M; Matthews, Jeanette H; Graham, Bradley S

    2003-03-01

    Reiter's syndrome is a multisystem disease commonly triggered by a genitourinary infection or bacterial enteric infection. After a short latent period, ocular symptoms, oligoarthritis, and mucocutaneous involvement may occur. Classic cutaneous manifestations of Reiter's syndrome include keratoderma blennorrhagicum and balanitis circinata, both of which are microscopically similar to pustular psoriasis. PMID:12661746

  3. LONG CHAIN FATTY ACID (LCFA) ABNORMALITIES IN HYPER IgD SYNDROME (HIDS) AND FAMILIAL MEDITERRANEAN FEVER (FMF): NEW INSIGHT INTO HERITABLE PERIODIC FEVERSa

    PubMed Central

    Simon, Anna; Drenth, Joost PH; Matern, Dietrich; Goetzman, Eric S.; Hager, Elizabeth J.; Gibson, K Michael

    2013-01-01

    Objective To examine essential fatty acids (EFAs) in hyper-IgD syndrome (HIDS) and Familial Mediterranean Fever (FMF). Methods EFAs were determined in sera derived from an archival, cross-sectional group of HIDS/FMF patients, stratified for presence and absence of fever. Control populations included healthy afebrile adults, and individuals with non-periodic fever (septic shock). EFAs were quantified using isotope dilution gas chromatography-mass spectrometry and data analyzed employing a Kruskal-Wallis non-parametric ANOVA with Dunn's post-hoc test. Results Sera samples derived from HIDS patients showed significantly decreased C20, C26, phytanic and pristanic acids during febrile crises that normalized in the afebrile state, and a significantly increased afebrile C22_?46 level that normalized with fever. Samples derived from FMF patients revealed increased ?-oxidized LCFAs as compared to controls, and the trend was for these same species to be increased in comparison to febrile, but not afebrile, HIDS patients. Individuals with non-periodic fever demonstrated global decreases in C10–C24 fatty acids, both saturated and unsaturated, accompanied by an elevated triene/tetraene ratio. Conclusions Our results suggest that different mechanisms are active in hereditary periodic fever syndromes that appear unrelated to fever, including depletion of very long chain fatty acids (VLCFAs) in febrile HIDS patients and increased ?-oxidized LCFAs in patients with FMF. These findings underscore new roles for EFAs in the potential production of inflammatory species in patients with hereditary periodic fever. PMID:23375471

  4. Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome

    PubMed Central

    Gioia, Silvio Alessandro Di; Bedoni, Nicola; von Scheven-Gête, Annette; Vanoni, Federica; Superti-Furga, Andrea; Hofer, Michaël; Rivolta, Carlo

    2015-01-01

    PFAPA syndrome is the most common autoinflammatory syndrome in children from Western countries. In spite of its strong familial clustering, its genetic basis and inheritance pattern are still unknown. We performed a comprehensive genetic study on 68 individuals from 14 families. Linkage analysis suggested a susceptibility locus on chromosome 8, but direct molecular sequencing did not support this initial statistical finding. Exome sequencing revealed the absence of any gene that was mutated in all patients. Exhaustive screening of genes involved in other autoinflammatory syndromes or encoding components of the human inflammasome showed no DNA variants that could be linked to PFAPA molecular pathology. Among these, the previously-reported missense mutation V198M in the NLRP3 gene was clearly shown not to co-segregate with PFAPA. Our results on this relatively large cohort indicate that PFAPA syndrome is unlikely to be a monogenic condition. Moreover, none of the several genes known to be involved in inflammation or in autoinflammatory disorders seem to be relevant, alone, to its etiology, suggesting that PFAPA results from oligogenic or complex inheritance of variants in multiple disease genes and/or non-genetic factors. PMID:25988833

  5. Variable intrafamilial expressivity of the rare tumor necrosis factor-receptor associated periodic syndrome-associated mutation I170N that affects the TNFR1A cleavage site

    PubMed Central

    Salzberger, Bernd; Haerle, Peter; Aksentijevich, Ivona; Kastner, Daniel; Schoelmerich, Juergen; Rosenfeld, Stephanie; Mueller-Ladner, Ulf

    2010-01-01

    We report on a 33-year-old female patient with a relatively mild clinical case of TNF-receptor associated periodic syndrome (TRAPS) and her 58-year-old father in whom end-stage renal disease due to TRAPS-related AA-amyloidosis has already developed. TRAPS was caused by a I170N mutation that has previously not been associated with amyloidosis. It remains unclear if an only mildly affected patient such as ours would benefit from treatment considering her father’s severe course of disease. The relevant literature on this problem is reviewed. PMID:20169391

  6. Mevalonate kinase deficiency (hyper IgD syndrome with periodic fever)--different faces with separate treatments: two cases and review of the literature.

    PubMed

    Gençp?nar, P?nar; Makay, Balahan B; Gattorno, Marco; Caroli, Francesco; Ünsal, Erbil

    2012-01-01

    The hyperimmunoglobulinemia D syndrome (HIDS), so-called mevalonate kinase deficiency, is caused by recessive mutations in the gene encoding mevalonate kinase enzyme. HIDS is characterized by recurrent fever attacks of 3-7 days that begin in infancy and recur every 4-6 weeks. The febrile period is accompanied by lymphadenopathy, arthralgia, abdominal pain, diarrhea, aphthous ulcers, and varying degree of skin involvement. The course and severity of the disease may be quite different. There is no effective or proven therapy for HIDS. We report two cases with HIDS, which had separate clinical findings and treatment strategies. PMID:23692791

  7. The Pathogenesis of Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis Syndrome: A Review of Current Research

    PubMed Central

    Kraszewska-G?omba, Barbara; Matkowska-Kocjan, Agnieszka; Szenborn, Leszek

    2015-01-01

    Background. PFAPA syndrome is a chronic disease that is characterized by recurrent episodes of high fever, aphthous stomatitis, pharyngitis, and cervical adenitis. Knowledge regarding the etiology of PFAPA is limited. Objectives. To provide up-to-date information considering etiology of PFAPA syndrome, by summarizing what has been explored and established in this area so far. Materials and Methods. PubMed, Web of Science, and Scopus databases were searched for pertinent reports. Eventually 19 articles were selected. The results were classified into categories regarding three areas of interest: familial occurrence, genetic basis, and immunological mechanisms of PFAPA. Results. Recent findings suggest that there is a familial tendency to PFAPA but the level of evidence does not warrant definite conclusions. The absence of a clear monogenic trait indicates a heterogenous, polygenic, or complex inheritance of PFAPA syndrome. As two mutations with a possible functional effect on the inflammasomes (MEFV E148Q and NLRP3 Q703K) have been found in several PFAPA cohorts, the role of inflammasome-related genes in PFAPA pathogenesis cannot be excluded. Immunological mechanisms of PFAPA involve an abnormal, IL-1? dependent innate immune response to an environmental trigger, which leads to Th1-driven inflammation expressed by recruitment of T-cells to the periphery. PMID:26457006

  8. Basic Characteristics of Adults with Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenopathy Syndrome in Comparison with the Typical Pediatric Expression of Disease

    PubMed Central

    Cattalini, Marco; Soliani, Martina; Rigante, Donato; Lopalco, Giuseppe; Iannone, Florenzo; Galeazzi, Mauro; Cantarini, Luca

    2015-01-01

    Autoinflammatory diseases are caused by inflammasome dysregulation leading to overproduction of proinflammatory cytokines and a pathological delay in the inflammation switching off. The progress of cellular biology has partially clarified pathogenic mechanisms behind monogenic autoinflammatory diseases, whereas little is known about the polygenic ones. Although the genetic susceptibility of periodic fever, aphthous stomatitis, pharyngitis, and adenopathy (PFAPA) syndrome is still obscure, the presence of overlapping symptoms with monogenic periodic fevers, the recurrence in family members, the important role played by dysregulated interleukin- (IL-) 1? secretion during flares, the overexpression of inflammasome-associated genes during attacks, and, last but not least, the therapeutic efficacy of IL-1? blockade strongly indicate a potential genetic involvement in its pathogenesis, probably linked with environmental factors. PFAPA syndrome has a typical inception in the pediatric age, but a delayed onset during adulthood has been described as well. Treatments required as well as effectiveness of tonsillectomy remain controversial, even if the disease seems to have a self-limited course mostly in children. The purpose of this review is to provide an overview of this complex polygenic/multifactorial autoinflammatory disorder in which the innate immune system undoubtedly plays a basic role. PMID:26357457

  9. [Autoinflammatory syndromes/fever syndromes].

    PubMed

    Schedel, J; Bach, B; Kümmerle-Deschner, J B; Kötter, I

    2011-05-01

    Hereditary periodic (fever) syndromes, also called autoinflammatory syndromes, are characterized by relapsing fever and additional manifestations such as skin rashes, mucosal manifestations, or joint symptoms. Some of these disorders present with organ involvement and serological signs of inflammation without fever. There is a strong serological inflammatory response with an elevation of serum amyloid A (SAA), resulting in an increased risk of secondary amyloidosis. There are monogenic disorders (familial mediterranean fever (FMF), hyper-IgD-syndrome (HIDS), cryopyrin-associated periodic syndromes (CAPS), "pyogenic arthritis, acne, pyoderma gangrenosum" (PAPA), and "pediatric granulomatous arthritis (PGA) where mutations in genes have been described, which in part by influencing the function of the inflammasome, in part by other means, lead to the induction of the production of IL-1?. In "early-onset of enterocolitis (IBD)", a functional IL-10 receptor is lacking. Therapeutically, above all, the IL-1 receptor antagonist anakinra is used. In case of TRAPS and PGA, TNF-antagonists (etanercept) may also be used; in FMF colchicine is first choice. As additional possible autoinflammatory syndromes, PFAPA syndrome (periodic fever with aphthous stomatitis, pharyngitis and adenitis), Schnitzler syndrome, Still's disease of adult and pediatric onset, Behçet disease, gout, chronic recurrent multifocal osteomyelitis (CRMO) and Crohn's disease also are mentioned. PMID:21541834

  10. Incidence and clinical features of hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) and spectrum of mevalonate kinase (MVK) mutations in German children.

    PubMed

    Lainka, E; Neudorf, U; Lohse, P; Timmann, C; Bielak, M; Stojanov, S; Huss, K; von Kries, R; Niehues, T

    2012-10-01

    Autoinflammatory diseases (AIDs) are characterized by recurrent, self-limiting systemic inflammation. Disorders include hereditary recurrent fever (HRF) syndromes such as hyperimmunoglobulinemia D and periodic fever syndrome (HIDS). To determine the incidence of HIDS and report clinical and genetic characteristics together with the underlying MVK genotypes in German children, a prospective active surveillance was conducted in Germany during a period of 3 years. Monthly inquiries were sent to 370 children's hospitals by the German Paediatric Surveillance Unit (Clinic-ESPED, n1) and to two laboratories (Laboratory-ESPED, n2) performing genetic analyses. Inclusion criteria were a MVK mutation-positive patient ?16 years of age with more than three self-limiting episodes of fever >38.5°C associated with increased inflammation markers. Clinical, epidemiological, and genetic data were assessed via questionnaires. Eight out of 16 patients were identified in Clinic-ESPED (n1) and 15 of 16 in Laboratory-ESPED (n2). Clinical and laboratory surveys overlapped in 7 of 16 cases. Incidence of HIDS was estimated to be 0.39 (95% CI: 0.22, 0.64) per 10(6) person-years. HIDS symptoms generally started in infancy with recurrent fever episodes lasting 3-12 (median, 4.5) days and recurring every 1-12 weeks. Fever was accompanied by abdominal pain, vomiting, diarrhea, cervical lymphadenopathy, and sometimes by headache, skin and joint symptoms. The patients carried 11 different MVK mutations mostly in compound heterozygosity (75%, 12 out of 16). The most frequent mutation was p.Val377Ile (81%, 13 out of 16). In Germany, the incidence of HIDS is very low with 0.39 per 10(6) person-years. PMID:22038276

  11. Pharmacologically Induced/Exacerbated Restless Legs Syndrome, Periodic Limb Movements of Sleep, and REM Behavior Disorder/REM Sleep Without Atonia: Literature Review, Qualitative Scoring, and Comparative Analysis

    PubMed Central

    Hoque, Romy; Chesson, Andrew L.

    2010-01-01

    Background: Pharmacologically induced/exacerbated restless legs syndrome (RLS), periodic limb movements in sleep (PLMS), and REM behavior disorder/REM sleep without atonia (RSWA) are increasingly recognized in clinical sleep medicine. A scoring system to evaluate the literature was created and implemented. The aim was to identify the evidence with the least amount of confound, allowing for more reliable determinations of iatrogenic etiology. Methods: Points were provided for the following criteria: manuscript type (abstract, peer-reviewed paper); population size studied (large retrospective study, small case series, case report); explicitly stated dosage timing; identification of peak symptoms related to time of medication administration (i.e., medication was ingested in the evening or at bedtime); initiation of a treatment plan; symptoms subsided or ceased with decreased dosage or drug discontinuation (for RLS articles only); negative personal history for RLS prior to use of the medication; exclusion of tobacco/alcohol/excessive caffeine use; exclusion of sleep disordered breathing by polysomnography (PSG); and PSG documentation of presence or absence of PLMS. For RLS and PLMS articles were also given points for the following criteria: each 2003 National Institutes of Health (NIH) RLS criteria met; exclusion of low serum ferritin; and exclusion of peripheral neuropathy by neurological examination. Results: Thirty-two articles on drug-induced RLS, 6 articles on drug-induced PLMS, and 15 articles on drug-induced RBD/RSWA were analyzed. Conclusion: Based on scores ? 10 and trials of medication reduction/cessation, the strongest evidence available for drug induced RLS are for the following drugs: escitalopram; fluoxetine; L-dopa/carbidopa and pergolide; L-thyroxine; mianserin; mirtazapine; olanzapine; and tramadol. Since none of the PLMS articles assessed PLMI in trials of medication reduction/cessation, the strongest evidence based on scores ? 10 are for the following drugs: bupropion, citalopram, fluoxetine, paroxetine, sertraline, and venlafaxine. Based on scores ? 10 and/or trials of medication cessation, the strongest evidence for drug induced RBD/RSWA is for the following drugs: clomipramine, selegiline, and phenelzine. Citation: Hoque R; Chesson Jr AL. Pharmacologically induced/exacerbated restless legs syndrome, periodic limb movements of sleep, and rem behavior disorder/rem sleep without atonia: literature review, qualitative scoring, and comparative analysis. J Clin Sleep Med 2010;6(1):79-83. PMID:20191944

  12. Premenstrual Syndrome (PMS)

    MedlinePLUS

    ... your menstrual cycle Premenstrual syndrome (PMS) Problem periods Tracking your period Getting enough sleep Looking and feeling ... These include pain relievers that have ibuprofen (say: eye-byoo-PROH-fen) and naproxen (say: nuh-PROK- ...

  13. Genotype-phenotype correlation in L1 associated diseases.

    PubMed Central

    Fransen, E; Van Camp, G; D'Hooge, R; Vits, L; Willems, P J

    1998-01-01

    The neural cell adhesion molecule L1 (L1CAM) plays a key role during embryonic development of the nervous system and is involved in memory and learning. Mutations in the L1 gene are responsible for four X linked neurological conditions: X linked hydrocephalus (HSAS), MASA syndrome, complicated spastic paraplegia type 1 (SP-1), and X linked agenesis of the corpus callosum. As the clinical picture of these four L1 associated diseases shows considerable overlap and is characterised by Corpus callosum hypoplasia, mental Retardation, Adducted thumbs, Spastic paraplegia, and Hydrocephalus, these conditions have recently been lumped together into the CRASH syndrome. We investigate here whether a genotype-phenotype correlation exists in CRASH syndrome since its clinical spectrum is highly variable and numerous L1 mutations have been described. We found that (1) mutations in the extracellular part of L1 leading to truncation or absence of L1 cause a severe phenotype, (2) mutations in the cytoplasmic domain of L1 give rise to a milder phenotype than extracellular mutations, and (3) extracellular missense mutations affecting amino acids situated on the surface of a domain cause a milder phenotype than those affecting amino acids buried in the core of the domain. PMID:9610803

  14. Hyper-IgD and periodic fever syndrome: a new MVK mutation (p.R277G) associated with a severe phenotype.

    PubMed

    Santos, Joana A; Aróstegui, Juan I; Brito, Maria J; Neves, Conceição; Conde, Marta

    2014-06-01

    Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS; MIM# 260920) is a rare recessively-inherited autoinflammatory condition caused by mutations in the MVK gene, which encodes for mevalonate kinase, an essential enzyme in the isoprenoid pathway. HIDS is clinically characterized by recurrent episodes of fever and inflammation. Here we report on the case of a 2 year-old Portuguese boy with recurrent episodes of fever, malaise, massive cervical lymphadenopathy and hepatosplenomegaly since the age of 12 months. Rash, arthralgia, abdominal pain and diarrhea were also seen occasionally. During attacks a vigorous acute-phase response was detected, including elevated erythrocyte sedimentation rate, C-reactive protein, serum amyloid A and leukocytosis. Clinical and laboratory improvement was seen between attacks. Despite normal serum IgD level, HIDS was clinically suspected. Mutational MVK analysis revealed the homozygous genotype with the novel p.Arg277Gly (p.R277G) mutation, while the healthy non-consanguineous parents were heterozygous. Short nonsteroidal anti-inflammatory drugs and corticosteroid courses were given during attacks with poor benefits, whereas anakinra showed positive responses only at high doses. The p.R277G mutation here described is a novel missense MVK mutation, and it has been detected in this case with a severe HIDS phenotype. Further studies are needed to evaluate a co-relation genotype, enzyme activity and phenotype, and to define the best therapeutic strategies. PMID:24656624

  15. Wolff-Parkinson-White syndrome

    MedlinePLUS

    Wolff-Parkinson-White syndrome is a condition in which there is an extra electrical pathway of the heart. The ... to periods of rapid heart rate ( tachycardia ). Wolff-Parkinson-White syndrome is one of the most common ...

  16. Metabolic Syndrome

    MedlinePLUS

    ... Your Best Self Smart Snacking Losing Weight Safely Metabolic Syndrome KidsHealth > Teens > Diabetes Center > Treatment & Prevention > Metabolic Syndrome ... applies to a condition known as metabolic syndrome. Metabolic Syndrome Is an Early Warning Sign Metabolic syndrome isn' ...

  17. Compartment syndromes

    NASA Technical Reports Server (NTRS)

    Mubarak, S. J.; Pedowitz, R. A.; Hargens, A. R.

    1989-01-01

    The compartment syndrome is defined as a condition in which high pressure within a closed fascial space (muscle compartment) reduces capillary blood perfusion below the level necessary for tissue viability'. This condition occurs in acute and chronic (exertional) forms, and may be secondary to a variety of causes. The end-result of an extended period of elevated intramuscular pressure may be the development of irreversible tissue injury and Volkmann's contracture. The goal of treatment of the compartment syndrome is the reduction of intracompartmental pressure thus facilitating reperfusion of ischaemic tissue and this goal may be achieved by decompressive fasciotomy. Controversy exists regarding the critical pressure-time thresholds for surgical decompression and the optimal diagnostic methods of measuring intracompartmental pressures. This paper will update and review some current knowledge regarding the pathophysiology, aetiology, diagnosis, and treatment of the acute compartment syndrome.

  18. L-Dopa Improves Restless Legs Syndrome and Periodic Limb Movements in Sleep But Not Attention-Deficit-Hyperactivity Disorder in a Double-blind Trial in Children

    PubMed Central

    England, Sandra J.; Picchietti, Daniel L.; Couvadelli, Barbara Vera; Fisher, Barbara C.; Siddiqui, Fouzia; Wagner, Mary L.; Hening, Wayne A.; Lewin, Daniel; Winnie, Glenna; Cohen, Barry; Walters, Arthur S.

    2011-01-01

    Background In a previous open-label study, dopaminergic agents improved Restless Legs Syndrome (RLS) and Periodic Limb Movements in Sleep (PLMS), as well as Attention-Deficit-Hyperactivity Disorder (ADHD) in children with both disorders. We therefore conducted a double-blind placebo-controlled trial of L-DOPA in ADHD children with and without RLS/PLMS. Methods Two groups of patients (total n=29), those with ADHD only or those with ADHD and RLS/PLMS were randomized to L-DOPA or placebo therapy. At baseline and after therapy patients were assessed with Conners' Parent and Teacher Rating Scales; polysomnography; RLS rating scale; and neuropsychometric measures of memory, learning, attention, and vigilance. Results L-DOPA improved RLS/PLMS symptoms in all patients with those disorders compared with placebo (p = .007). When assessed by the Conners' Scales before therapy, ADHD was more severe in children without RLS/PLMS than in children with RLS/PLMS (p=0.006). L-DOPA had no effect on Conners' scales, sleep, or neuropsychometric tests when all patients treated with drug were compared to those on placebo or when patients with ADHD only were compared to those with ADHD and RLS/PLMS. Conclusions In this first double-blind study of a dopaminergic therapy in children with RLS/PLMS, L-Dopa significantly improved RLS/PLMS but not ADHD. These results, however, should be interpreted carefully since they may have been influenced by the relatively small sample size and the baseline differences in severity of ADHD symptoms. Further work needs to be done to elucidate the relationship between dopamine, ADHD and RLS/PLMS. PMID:21463967

  19. Long-term efficacy of a short period of taping followed by an exercise program in a cohort of patients with patellofemoral pain syndrome.

    PubMed

    Paoloni, Marco; Fratocchi, Giancarlo; Mangone, Massimiliano; Murgia, Massimiliano; Santilli, Valter; Cacchio, Angelo

    2012-03-01

    Patellofemoral pain syndrome (PFPS) is a common source of anterior knee pain. While treatment for PFPS may be successful in the short term, long-term results are less promising. The purpose of this study was to record long-term pain and functionality outcomes following rehabilitation in patients affected by PFPS. A prospective cohort study of 44 patients with a diagnosis of PFPS and an activation imbalance between the vastus medialis obliquus (VMO) and vastus lateralis (VL) muscles were enrolled. Patients underwent patellar taping (2 weeks) followed by a rehabilitation program lasting until the end of the third month. Primary outcome measures were pain and the functional level of the patellofemoral joint. Secondary outcome measures were surface electromyographic (sEMG) onset timing of the VMO/VL during seated knee extension and squat and isometric knee extensor muscle strength. Significant differences in all the outcome measures were observed between the affected and unaffected sides before treatment. The pain score significantly decreased both posttreatment (??=?-4.7; 95% CI?=?-5.4 to -3.9) and at the 12-month follow-up (??=?-5.5; 95% CI?=?-6.1 to -4.8), while the functional level significantly increased both posttreatment (??=?24; 95% CI?=?18.3 to 30.2) and at the 12-month follow-up (??=?26; 95% CI?=?21.4 to 30.6). Posttreatment, 35/44 patients (79.5%) and 31/44 patients (70.5%) achieved normal sEMG onset timing of the VMO and VL in the seated knee extension exercise and in the squat exercise, respectively. A short period of patellar taping followed by an exercise program results in long-lasting pain control in PFPS associated with muscular dysfunction. PMID:22048741

  20. Microarray-based gene expression profiling in patients with cryopyrin-associated periodic syndromes defines a disease-related signature and IL-1-responsive transcripts

    PubMed Central

    Balow, James E; Ryan, John G; Chae, Jae Jin; Booty, Matthew G; Bulua, Ariel; Stone, Deborah; Sun, Hong-Wei; Greene, James; Barham, Beverly; Goldbach-Mansky, Raphaela; Kastner, Daniel L; Aksentijevich, Ivona

    2014-01-01

    Objective To analyse gene expression patterns and to define a specific gene expression signature in patients with the severe end of the spectrum of cryopyrin-associated periodic syndromes (CAPS). The molecular consequences of interleukin 1 inhibition were examined by comparing gene expression patterns in 16 CAPS patients before and after treatment with anakinra. Methods We collected peripheral blood mononuclear cells from 22 CAPS patients with active disease and from 14 healthy children. Transcripts that passed stringent filtering criteria (p values ? false discovery rate 1%) were considered as differentially expressed genes (DEG). A set of DEG was validated by quantitative reverse transcription PCR and functional studies with primary cells from CAPS patients and healthy controls. We used 17 CAPS and 66 non-CAPS patient samples to create a set of gene expression models that differentiates CAPS patients from controls and from patients with other autoinflammatory conditions. Results Many DEG include transcripts related to the regulation of innate and adaptive immune responses, oxidative stress, cell death, cell adhesion and motility. A set of gene expression-based models comprising the CAPS-specific gene expression signature correctly classified all 17 samples from an independent dataset. This classifier also correctly identified 15 of 16 postanakinra CAPS samples despite the fact that these CAPS patients were in clinical remission. Conclusions We identified a gene expression signature that clearly distinguished CAPS patients from controls. A number of DEG were in common with other systemic inflammatory diseases such as systemic onset juvenile idiopathic arthritis. The CAPS-specific gene expression classifiers also suggest incomplete suppression of inflammation at low doses of anakinra. PMID:23223423

  1. Cushing's Syndrome in Children

    MedlinePLUS

    Cushing’s Syndrome in Children by Meg Keil, MS, CRNP How is Cushing’s syndrome (CS) in children different than in adults? · CS in children is rare. An estimated ... child or adolescent during this period. Editor’s Note: Meg Keil,MS, CRNP is a nurse practitioner at ...

  2. Second-Impact Syndrome

    ERIC Educational Resources Information Center

    Cobb, Sarah; Battin, Barbara

    2004-01-01

    Sports-related injuries are among the more common causes of injury in adolescents that can result in concussion and its sequelae, postconcussion syndrome and second-impact syndrome (SIS). Students who experience multiple brain injuries within a short period of time (hours, days, or weeks) may suffer catastrophic or fatal reactions related to SIS.…

  3. Metabolic Syndrome

    MedlinePLUS

    ... Th M e etabolic Syndrome What is the metabolic syndrome? The term metabolic syndrome describes a cluster of risk factors that increase ... high blood sugar). The exact cause of the metabolic syndrome is not known but genetic factors, too much ...

  4. Cushing's Syndrome

    MedlinePLUS

    MENU Return to Web version Cushing's Syndrome Overview What is Cushing's syndrome? Cushing's syndrome occurs when your body is exposed to high levels ... they can cause problems with your eyesight. Diagnosis & Tests How is Cushing's syndrome diagnosed? Your doctor may ...

  5. Anesthesia & Down Syndrome

    MedlinePLUS

    ... neck) and airway size. How Do Behavior and Communication Issues Affect Anesthesia? The better we are at ... pre-anesthetic periods of evaluation and preparation. Receptive communication skills of people with Down syndrome are often ...

  6. Kearns-Sayre Syndrome

    MedlinePLUS

    ... About NINDS NINDS Kearns-Sayre Syndrome Information Page Table of Contents (click to jump to sections) What ... the number of organs involved. Early diagnosis and periodic electrocardiogram (ECG) are important since heart block can ...

  7. Beckwith-Wiedemann syndrome

    MedlinePLUS

    ... associated with a defect in chromosome number 11. Infancy can be a critical period because of low ... Children with Beckwith-Wiedemann syndrome who survive infancy do ... appears to be normal to very slightly decreased. Swelling of ...

  8. Sotos syndrome

    PubMed Central

    Baujat, Geneviève; Cormier-Daire, Valérie

    2007-01-01

    Sotos syndrome is an overgrowth condition characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty, and associated with variable minor features. The exact prevalence remains unknown but hundreds of cases have been reported. The diagnosis is usually suspected after birth because of excessive height and occipitofrontal circumference (OFC), advanced bone age, neonatal complications including hypotonia and feeding difficulties, and facial gestalt. Other inconstant clinical abnormalities include scoliosis, cardiac and genitourinary anomalies, seizures and brisk deep tendon reflexes. Variable delays in cognitive and motor development are also observed. The syndrome may also be associated with an increased risk of tumors. Mutations and deletions of the NSD1 gene (located at chromosome 5q35 and coding for a histone methyltransferase implicated in transcriptional regulation) are responsible for more than 75% of cases. FISH analysis, MLPA or multiplex quantitative PCR allow the detection of total/partial NSD1 deletions, and direct sequencing allows detection of NSD1 mutations. The large majority of NSD1 abnormalities occur de novo and there are very few familial cases. Although most cases are sporadic, several reports of autosomal dominant inheritance have been described. Germline mosaicism has never been reported and the recurrence risk for normal parents is very low (<1%). The main differential diagnoses are Weaver syndrome, Beckwith-Wiedeman syndrome, Fragile X syndrome, Simpson-Golabi-Behmel syndrome and 22qter deletion syndrome. Management is multidisciplinary. During the neonatal period, therapies are mostly symptomatic, including phototherapy in case of jaundice, treatment of the feeding difficulties and gastroesophageal reflux, and detection and treatment of hypoglycemia. General pediatric follow-up is important during the first years of life to allow detection and management of clinical complications such as scoliosis and febrile seizures. An adequate psychological and educational program with speech therapy and motor stimulation plays an important role in the global development of the patients. Final body height is difficult to predict but growth tends to normalize after puberty. PMID:17825104

  9. Metabolic Syndrome

    MedlinePLUS

    ... page from the NHLBI on Twitter. What Is Metabolic Syndrome? Metabolic syndrome is the name for a group of risk ... three metabolic risk factors to be diagnosed with metabolic syndrome. A large waistline. This also is called abdominal ...

  10. Metabolic syndrome

    MedlinePLUS

    Metabolic syndrome is a name for a group of risk factors that occur together and increase the chance ... Metabolic syndrome is becoming very common in the United States. Doctors are not sure whether the syndrome is ...

  11. Gardner Syndrome

    MedlinePLUS

    ... Gardner syndrome? Gardner syndrome is a subtype of familial adenomatous polyposis (FAP or classic FAP) , which usually causes benign, ... is linked to Gardner syndrome; APC stands for adenomatous polyposis coli. A mutation, meaning an alteration in the APC ...

  12. Down Syndrome

    MedlinePLUS

    ... NICHD Research Information Clinical Trials Resources and Publications Down Syndrome: Condition Information Skip sharing on social media links Share this: Page Content What is Down syndrome? Down syndrome describes a set of cognitive and ...

  13. Down Syndrome

    MedlinePLUS

    ... Digestive System How the Body Works Main Page Down Syndrome KidsHealth > Kids > Health Problems > Birth Defects & Genetic Problems > ... skills. Continue Do a Lot of People Have Down Syndrome? Down syndrome is not contagious , so you can' ...

  14. Cushing's Syndrome

    MedlinePLUS

    ... being done? Clinical Trials Organizations What is Cushing's Syndrome? Cushing's syndrome, also called hypercortisolism , is a rare endocrine ... and cure the disorder. NIH Patient Recruitment for Cushing's Syndrome Clinical Trials At NIH Clinical Center Throughout the ...

  15. Brown Syndrome

    MedlinePLUS

    ... Does Brown syndrome cause eye problems besides abnormal eye movements? Some children with Brown syndrome have poor binocular ... In the congenital form of Brown syndrome, the eye movement problem is usually constant and unlikely to resolve ...

  16. Dravet Syndrome

    MedlinePLUS

    ... NINDS Dravet Syndrome Information Page Synonym(s): Severe Myoclonic Epilepsy of Infancy (SMEI) Table of Contents (click to ... Dravet Syndrome? Dravet syndrome, also called severe myoclonic epilepsy of infancy (SMEI), is a severe form of ...

  17. Canakinumab (ACZ885, a fully human IgG1 anti-IL-1? mAb) induces sustained remission in pediatric patients with cryopyrin-associated periodic syndrome (CAPS)

    PubMed Central

    2011-01-01

    Introduction Cryopyrin-associated periodic syndrome (CAPS) represents a spectrum of three auto-inflammatory syndromes, familial cold auto-inflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disease/chronic infantile neurological cutaneous and articular syndrome (NOMID/CINCA) with etiology linked to mutations in the NLRP3 gene resulting in elevated interleukin-1? (IL-1?) release. CAPS is a rare hereditary auto-inflammatory disease, which may start early in childhood and requires a life-long treatment. Canakinumab, a fully human anti-IL-1? antibody, produces sustained selective inhibition of IL-1?. This study was conducted to assess the efficacy, safety, and pharmacokinetics of canakinumab in the treatment of pediatric CAPS patients. Methods Seven pediatric patients (five children and two adolescents) with CAPS were enrolled in a phase II, open-label study of canakinumab in patients with CAPS. Canakinumab was administered at a dose of 2 mg/kg subcutaneously (s.c.) (for patients with body weight ? 40 kg) or 150 mg s.c. (for patients with body weight > 40 kg) with re-dosing upon each relapse. The primary efficacy variable was time to relapse following achievement of a complete response (defined as a global assessment of no or minimal disease activity and no or minimal rash and values for serum C-reactive protein (CRP) and/or serum amyloid A (SAA) within the normal range, < 10 mg/L). Results All patients achieved a complete response within seven days after the first dose of canakinumab and responses were reinduced on retreatment following relapse. Improvements in symptoms were evident within 24 hours after the first dose, according to physician assessments. The estimated median time to relapse was 49 days (95% CI 29 to 68) in children who received a dose of 2 mg/kg. Canakinumab was well tolerated. One serious adverse event, vertigo, was reported, but resolved during treatment. Conclusions Canakinumab, 2 mg/kg or 150 mg s.c., induced rapid and sustained clinical and biochemical responses in pediatric patients with CAPS. Trial registration number ClinicalTrials.gov: NCT00487708 PMID:21356079

  18. HIV-1-associated central nervous system dysfunction.

    PubMed

    Krebs, F C; Ross, H; McAllister, J; Wigdahl, B

    2000-01-01

    Despite more than 15 years of extensive investigative efforts, a complete understanding of the neurological consequences of HIV-1 CNS infection remains elusive. Although the resources of numerous investigators have been focused on studies of HIV-1-associated CNS disease, the complex nature of the disease processes that underlie the clinical, pathological, and cellular manifestations of HIV-1 CNS infection have required a larger volume of studies than was initially envisioned. Several major areas remain as the focus of current research efforts. One of the more pressing issues facing researchers and clinicians alike is the search for correlates to the development of HIV-1-associated CNS neuropathology and the onset of HIVD. Although numerous parameters have been studied, none have been shown to be absolute predictors or markers of HIV-1-related CNS dysfunction. The identification of solid correlates of HIVD is an important goal that would permit clinical identification of individuals at risk for developing potentially crippling, life-threatening CNS abnormalities and would facilitate early treatment of nascent neurological problems. A more complete comprehension of the cellular foundations of CNS dysfunction and HIVD is also a fundamental part of strategies designed to treat or prevent HIV-1-associated CNS disease. Future investigations will strive to expand the body of knowledge concerning the complex interactions between infected and uninfected neuroglial cells and the roles of numerous cytokines, chemokines, and other soluble agents that are deregulated during HIV-1 CNS infection. In particular, a thorough understanding of the mechanisms of neurotoxicity may facilitate the development of new therapies that alleviate or eliminate the clinical consequences of CNS infection. Finally, investigators will continue to study HIVD within the context of single and combination drug therapies used in the treatment of HIV-1 infection and AIDS. As newer and more effective systemic treatments for HIV-1 infection and AIDS are introduced, the effects of these treatments on the onset, incidence, and severity of HIVD will also require intensive study. The impact of drug therapies on the ability of the CNS to act as an HIV-1 reservoir will also need to be addressed. Introduction of each new drug or drug combination will necessitate studies of drug penetration into the CNS and efficacy against the development of CNS abnormalities. Furthermore, as more effective treatments prolong the lifespan of individuals infected with HIV-1, the impact of extended survival on the occurrence and severity of HIVD will also require further investigations. The quest for answers to these and other questions will be complicated by the diversity of experimental systems used to study different aspects of HIV-1 CNS infection and HIVD. Each system has its own unique strengths and weaknesses. Clinical observations provide a continuous spectrum of symptomatic findings but reveal little about the underlying mechanisms of disease. In vivo imaging techniques, such as CT and MRI, also provide a continuum of observations, but the images are limited in their resolution. Neuropathological examinations of postmortem HIV-1-infected brains offer gross, cellular, and molecular views (including phenotypic and genotypic analyses of CNS viral isolates) of the diseased brain, but only provide a snapshot of the end-stage neurologic dysfunction. Studies that rely on animal surrogates for HIV-1, including SIV, simian-HIV (SHIV), feline immunodeficiency virus (FIV), visna virus, and HIV-1 SCID-hu models, permit experimental protocols that cannot be carried out in humans, but are limited by the fidelity with which each virus and animal model emulates the conditions and events observed in the human host. Finally, in vitro techniques, which include the use of primary cells and cell lines, adult or fetal human cell cultures, and BBB barrier model systems, are also convenient means by which aspe PMID:11013768

  19. [Syndromes 12. Turner syndrome].

    PubMed

    Verdonck, A; van Erum, R

    1999-07-01

    Turner syndrome is one of the most common chromosomal disorders. The incidence is about 1 on 2,500 till 1 on 10,000 living female young births. Short stature is the most common finding in patients with Turner syndrome. Besides short stature and gonadal dysgenesis, typical craniofacial and dental features are also present. Disturbance of the enchondral ossification results in abnormal craniofacial morphology. Oestrogen medication, to induce their puberty, and recombinant human growth therapy, to improve final height of these patients, are the most common treatment possibilities. It is the intention of this short paper to inform the dentist/orthodontist about the general aspects of the Turner syndrome. This information can be used in their treatment plan. PMID:11930372

  20. [The clinical estimation of ketoprofen lysine salt effect on the intensitivity of acute pain syndrome in the oral cavity during surgical procedures and postoperative period].

    PubMed

    Durnovo, E A; Shashurina, S V; Bespalova, N A; Khomutinnikova, N E; Gliavina, I A; Marochkina, M S; Iartseva, A V

    2013-01-01

    Is studying and control of the clinical efficacy and safety of ketoprofen lysine salt (?LS) (the commercial name is "Oki" manufacturer by Dompe CPA, Italy) in the form of sachets and solutions for application in postoperative period after dental surgeries procedures. The comparison of the analgetic effect of systemic and local forms of the "Oki" drug, depending on the type and extent of surgery procedures. Was carried out surgical treatment and patients examination in the postoperative period. Surgical procedures included: vestibulolasty, vestibulolasty with apically-displaced flap, vestibulolasty with apically-displaced flap and a free palatal mucogingival graft, removal impacted and dystopic teeth, periodontal surgery. The research was conducted in the Surgical stomatology and Maxillofacial surgery Department (stomatological policlinic of the Nizhny Novgorod State Medical Academy). Was noted rapid advanced of anesthesia when using sachets and solutions of the ketoprofen lysine salt (the commercial name is "Oki" manufacturer by Dompe CPA, Italy) in postoperative period after dental surgical procedures. Was noted a more advanced of analgetic effect in the application therapy by DCI solution when open surgical wound presented. Analgetic effect was observed after 20-30 min and was maintained in the postoperative period to an average of 8 hours. Local application sachets and solution of the ketoprofen lysine salt (KLS ), in our opinion, is the most appropriate and is highly effective when open surgical wound presented. Ketoprofen lysine salt (KLS) has a neutral pH and does not irritate the gastrointestinal tract, that determines the safety of its used. PMID:23528405

  1. Thyroid Function in Down Syndrome.

    ERIC Educational Resources Information Center

    Pueschel, Siegfried M.; And Others

    1991-01-01

    This study investigated the thyroid function of 181 patients (mean age 14 years) with Down's syndrome and found more thyroid dysfunctions than in the general population. Periodic thyroid hormone function tests are recommended for Down's syndrome individuals, especially as they get older. (Author/DB)

  2. Craniofacial Syndrome Descriptions

    MedlinePLUS

    ... brought about by birth defect, disease or trauma. Apert syndrome Carpenter syndrome Carpenter Syndrome belongs to a group ... FAQs CCAkids Blog CCA Web Store Cher Syndromes • Apert syndrome • Carpenter syndrome • Cleft lip and/or palate • Craniosynostosis • ...

  3. Usher Syndrome

    MedlinePLUS

    Usher syndrome is an inherited disease that causes serious hearing loss and retinitis pigmentosa, an eye disorder ... hearing and vision. There are three types of Usher syndrome: People with type I are deaf from ...

  4. Hunter syndrome

    MedlinePLUS

    ... form: Mild to no mental deficiency Both forms: Carpal tunnel syndrome Coarse features of the face Deafness (gets worse ... Airway obstruction Carpal tunnel syndrome Hearing loss that gets worse ... to complete daily living activities Joint stiffness that ...

  5. Klinefelter Syndrome

    MedlinePLUS

    ... Information Clinical Trials Resources and Publications Klinefelter Syndrome (KS): Condition Information Skip sharing on social media links Share this: Page Content What is KS? The term "Klinefelter (pronounced KLAHYN-fel-ter ) syndrome," ...

  6. Rett syndrome

    MedlinePLUS

    Rett syndrome occurs almost always in girls. It may be diagnosed as autism or cerebral palsy. Most Rett syndrome cases are due to a problem in the gene called MECP2. This gene is on the X chromosome. Females ...

  7. Metabolic Syndrome

    MedlinePLUS

    Metabolic syndrome is a group of conditions that put you at risk for heart disease and diabetes. These ... doctors agree on the definition or cause of metabolic syndrome. The cause might be insulin resistance. Insulin is ...

  8. Marfan Syndrome

    MedlinePLUS

    ... syndrome is a condition in which your body's connective tissue is abnormal. Connective tissue helps support all parts of your body. It ... and develops. Marfan syndrome most often affects the connective tissue of the heart and blood vessels, eyes, bones, ...

  9. Cushing syndrome

    MedlinePLUS

    Cushing syndrome is a disorder that occurs when your body has a high level of the hormone cortisol. ... The most common cause of Cushing syndrome is taking too much ... of this type of medicine. Glucocorticoids mimic the action ...

  10. Cushing's Syndrome

    MedlinePLUS

    Cushing's syndrome is a hormonal disorder. The cause is long-term exposure to too much cortisol, a hormone ... cause your body to make too much cortisol. Cushing's syndrome is rare. Some symptoms are Upper body obesity ...

  11. Angelman Syndrome

    MedlinePLUS

    ... heads, jerky movements, protruding tongues, and bouts of laughter." Infants with Angelman syndrome appear normal at birth, ... Is there any treatment? There is no specific therapy for Angelman syndrome. Medical therapy for seizures is ...

  12. Aase syndrome

    MedlinePLUS

    Aase-Smith syndrome; Hypoplastic anemia/Triphalangeal thumb syndrome ... Jones KL, ed. Aase syndrome. In: Smith's Recognizable Patterns Of Human Malformation. 6th ed. Saunders. 2005. Clinton C, Gazda HT. Diamond-Blackfan Anemia. 2009 Jun 25 [Updated 2013 Jul ...

  13. Down syndrome

    MedlinePLUS

    Down syndrome is a genetic condition in which a person has 47 chromosomes instead of the usual 46. ... In most cases, Down syndrome occurs when there is an extra copy of chromosome 21. This form of Down syndrome is called Trisomy 21. ...

  14. Velocardiofacial Syndrome

    ERIC Educational Resources Information Center

    Gothelf, Doron; Frisch, Amos; Michaelovsky, Elena; Weizman, Abraham; Shprintzen, Robert J.

    2009-01-01

    Velocardiofacial syndrome (VCFS), also known as DiGeorge, conotruncal anomaly face, and Cayler syndromes, is caused by a microdeletion in the long arm of Chromosome 22. We review the history of the syndrome from the first clinical reports almost half a century ago to the current intriguing molecular findings associating genes from the…

  15. Neuroleptic Malignant Syndrome

    MedlinePLUS

    ... weeks of treatment with the drug; however, the disorder may develop any time during the therapy period. The syndrome can also occur in people ... Trials Organizations Column1 Column2 National Organization for Rare Disorders (NORD) ... Tel: 203-744-0100 Voice Mail 800-999-NORD (6673) Fax: 203-798- ...

  16. The Treatment of Restless Legs Syndrome and Periodic Limb Movement Disorder in Adults—An Update for 2012: Practice Parameters with an Evidence-Based Systematic Review and Meta-Analyses

    PubMed Central

    Aurora, R. Nisha; Kristo, David A.; Bista, Sabin R.; Rowley, James A.; Zak, Rochelle S.; Casey, Kenneth R.; Lamm, Carin I.; Tracy, Sharon L.; Rosenberg, Richard S.

    2012-01-01

    A systematic literature review and meta-analyses (where appropriate) were performed to update the previous AASM practice parameters on the treatments, both dopaminergic and other, of RLS and PLMD. A considerable amount of literature has been published since these previous reviews were performed, necessitating an update of the corresponding practice parameters. Therapies with a STANDARD level of recommendation include pramipexole and ropinirole. Therapies with a GUIDELINE level of recommendation include levodopa with dopa decarboxylase inhibitor, opioids, gabapentin enacarbil, and cabergoline (which has additional caveats for use). Therapies with an OPTION level of recommendation include carbamazepine, gabapentin, pregabalin, clonidine, and for patients with low ferritin levels, iron supplementation. The committee recommends a STANDARD AGAINST the use of pergolide because of the risks of heart valve damage. Therapies for RLS secondary to ESRD, neuropathy, and superficial venous insufficiency are discussed. Lastly, therapies for PLMD are reviewed. However, it should be mentioned that because PLMD therapy typically mimics RLS therapy, the primary focus of this review is therapy for idiopathic RLS. Citation: Aurora RN; Kristo DA; Bista SR; Rowley JA: Zak RS; Casey KR; Lamm CI; Tracy SL; Rosenberg RS. The treatment of restless legs syndrome and periodic limb movement disorder in adults—an update for 2012: practice parameters with an evidence-based systematic review and meta-analyses. SLEEP 2012;35(8):1039-1062. PMID:22851801

  17. Why Metabolic Syndrome Matters

    MedlinePLUS

    ... High Blood Pressure Tools & Resources Stroke More Why Metabolic Syndrome Matters Updated:Jul 24,2014 Metabolic syndrome may ... Diabetes High Blood Pressure My Life Check Heart360® Metabolic Syndrome • Home • About Metabolic Syndrome • Why Metabolic Syndrome Matters • ...

  18. Skin manifestations in autoinflammatory syndromes.

    PubMed

    Braun-Falco, Markus; Ruzicka, Thomas

    2011-03-01

    Autoinflammatory diseases encompass a group of inflammatory diseases that are non-infectious, non-allergic, non-autoimmune and non-immunodeficient. The term was initially coined for a small group of familial periodic fever syndromes of which familial Mediterranean fever (FMF) is the most common and best known. Genetic and molecular analyses demonstrated for the majority of these diseases an impairment of inflammasomes to cause an increased activity of an interleukin-1-dependent inflammatory response. Over the last years an increasing number of either rare hereditary syndromes or acquired common diseases could be summarized under the designation of autoinflammatory disease, thus creating an emerging new rubric of inflammatory diseases. Many of them display cutaneous manifestations as both concomitant or more rarely main symptoms. To name some of them like erysipelas-like erythema in FMF; urticaria-like rashes in tumor necrosis factor receptor 1- or cryopyrin-associated periodic syndromes (TRAPS, CAPS), hyperimmunoglobulin D syndrome (HIDS) or Schnitzler syndrome; pyoderma gangrenosum and acne in PAPA syndrome; or behçetoid aphthous ulcerations in HIDS and PFAPA syndrome. Based on the new insights into pathogenesis one increasingly realizes the good response of these diseases to IL-1 antagonist therapies. PMID:21176105

  19. Apert Syndrome.

    PubMed

    Datta, Saikat; Saha, Sandip; Kar, Arnab; Mondal, Souvonik; Basu, Syamantak

    2014-09-01

    Apert syndrome is one of the craniosynostosis syndromes which, due to its association with other skeletal anomalies, is also known as acrocephalosyndactyly. It is a rare congenital anomaly which stands out from other craniosynostosis due to its characteristic skeletal presentations. PMID:26259326

  20. Prenatal Diagnosis of WAGR Syndrome

    PubMed Central

    Tezcan, Berrin; Rich, Philip; Bhide, Amarnath

    2015-01-01

    Wilm's tumour, aniridia, genitourinary abnormalities, and mental retardation (WAGR) syndrome is a rare genetic disorder with an estimated prevalence of 1 in 500,000 to 1 million. It is a contiguous gene syndrome due to deletion at chromosome 11p13 in a region containing WT1 and PAX6 genes. Children with WAGR syndrome mostly present in the newborn/infancy period with sporadic aniridia. The genotypic defects in WAGR syndrome have been well established. However, antenatal ultrasonographic presentation of this syndrome has never been reported. Prenatal diagnosis of this condition is possible in some cases with careful ultrasound examination of classical and nonclassical manifestations of this syndrome. The key point for this rare diagnosis was the decision to perform chromosomal microarray analysis after antenatal diagnosis of absent corpus callosum and absent cavum septum pellucidum, as this finding mandates search for potentially associated genetic disorders. We report a case of WAGR syndrome diagnosed prenatally at 29-week gestation. The diagnosis of the anomaly was based on two- and three-dimensional ultrasound as well as fetal MRI scan and microarray analysis. The ultrasonographic findings included borderline ventriculomegaly, absent corpus callosum, and absent cavum septum pellucidum. Cytogenetic results from the amniotic fluid confirmed WAGR syndrome. Parental karyotype was normal, with no evidence of copy number change, deletion, or rearrangement of this region of chromosome 11. PMID:26605098

  1. Periodic Fever: A Review on Clinical, Management and Guideline for Iranian Patients - Part II.

    PubMed

    Ahmadinejad, Zahra; Mansouri, Sedigeh; Ziaee, Vahid; Aghighi, Yahya; Moradinejad, Mohammad-Hassan; Fereshteh-Mehregan, Fatemeh

    2014-06-01

    Periodic fever syndromes are a group of diseases characterized by episodes of fever with healthy intervals between febrile episodes. In the first part of this paper, we presented a guideline for approaching patients with periodic fever and reviewed two common disorders with periodic fever in Iranian patients including familial Mediterranean fever (FMF) and periodic fever syndromes except for periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA). In this part, we review other autoinflammatory disorders including hyper IgD, tumor necrosis factor receptor-associated periodic syndrome (TRAPS), cryopyrin associated periodic syndromes, autoinflammatory bone disorders and some other rare autoinflammatory disorders such as Sweet's and Blau syndromes. In cryopyrin associated periodic syndromes group, we discussed chronic infantile neurologic cutaneous and articular (CINCA) syndrome, Muckle-Wells syndrome and familial cold autoinflammatory syndrome. Autoinflammatory bone disorders are categorized to monogenic disorders such as pyogenic arthritis, pyoderma ;gangraenosum and acne (PAPA) syndrome, the deficiency of interleukine-1 receptor antagonist (DIRA) and Majeed syndrome and polygenic background or sporadic group such as chronic recurrent multifocal osteomyelitis (CRMO) or synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) syndrome are classified in sporadic group. Other autoinflammatory syndromes are rare causes of periodic fever in Iranian system registry. PMID:25562014

  2. Periodic Fever: A Review on Clinical, Management and Guideline for Iranian Patients - Part II

    PubMed Central

    Ahmadinejad, Zahra; Mansouri, Sedigeh; Ziaee, Vahid; Aghighi, Yahya; Moradinejad, Mohammad-Hassan; Fereshteh-Mehregan, Fatemeh

    2014-01-01

    Periodic fever syndromes are a group of diseases characterized by episodes of fever with healthy intervals between febrile episodes. In the first part of this paper, we presented a guideline for approaching patients with periodic fever and reviewed two common disorders with periodic fever in Iranian patients including familial Mediterranean fever (FMF) and periodic fever syndromes except for periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA). In this part, we review other autoinflammatory disorders including hyper IgD, tumor necrosis factor receptor–associated periodic syndrome (TRAPS), cryopyrin associated periodic syndromes, autoinflammatory bone disorders and some other rare autoinflammatory disorders such as Sweet’s and Blau syndromes. In cryopyrin associated periodic syndromes group, we discussed chronic infantile neurologic cutaneous and articular (CINCA) syndrome, Muckle-Wells syndrome and familial cold autoinflammatory syndrome. Autoinflammatory bone disorders are categorized to monogenic disorders such as pyogenic arthritis, pyoderma ;gangraenosum and acne (PAPA) syndrome, the deficiency of interleukine-1 receptor antagonist (DIRA) and Majeed syndrome and polygenic background or sporadic group such as chronic recurrent multifocal osteomyelitis (CRMO) or synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) syndrome are classified in sporadic group. Other autoinflammatory syndromes are rare causes of periodic fever in Iranian system registry. PMID:25562014

  3. Syndrome designations.

    PubMed Central

    Cohen, M M

    1976-01-01

    Because syndrome designations permit the collection of data, they are much more than just lables. As new syndromes become delineated, their names connote (1) their phenotypic spectra, (2) their natural histories, and (3) their modes of inheritance or risk of recurrence. Various methods for designating new syndromes are reviewed, including naming them after (1) the basic defect, (2) an eponym, (3) one or more striking features, (4) an acronym, (5) a numeral, (6) a geographic term, and (7) some combination of the above. None of these systems of nomenclature is without fault. The advantages and disadvantages of each are discussed. PMID:957375

  4. Velocardiofacial syndrome.

    PubMed Central

    Pike, A. C.; Super, M.

    1997-01-01

    Velocardiofacial syndrome is a syndrome of multiple anomalies that include cleft palate, cardiac defects, learning difficulties, speech disorder and characteristic facial features. It has an estimated incidence of 1 in 5000. The majority of cases have a microdeletion of chromosome 22q11.2. The phenotype of this condition shows considerable variation, not all the principal features are present in each case. Identification of the syndrome can be difficult as many of the anomalies are minor and present in the general population. Images Figure 1 Figure 2 Figure 3 Figure 4 Figure 5 Figure 6 PMID:9497944

  5. Down Syndrome Research and Practice 10(x), xx -xx 2006 The Down Syndrome Educational Trust. All Rights Reserved. ISSN: 0968-7912

    E-print Network

    MacDonald, Mark

    1 Down Syndrome Research and Practice 10(x), xx -xx © 2006 The Down Syndrome Educational Trust. All Rights Reserved. ISSN: 0968-7912 http://www.down-syndrome.info/library/periodicals/dsrp/10/xx with their mouths. Oral motor control is affected in a variety of developmental disorders, including Down Syndrome

  6. Amygdaloid nucleus syndrome and dehumanization syndrome.

    PubMed

    Miller de Paiva, L

    1979-01-01

    Through statistical tests 3 groups of impulsive-aggressive patients were studied: group 1, 100 individuals with temporal dysrhythmia; group 2, 18 individuals with temporal dysrhythmia submitted either to group analytical therapy or to psychoanalysis; group 3, 25 impulsive-aggressive individuals. Moreover the author differentiates between the amygdaloid nucleus and dehumanization syndromes, through psychoanalytical or psychiatric studies, and stresses the importance of the molding periods in relation to social factors (frustration-aggression-injustice). Amygdalotomy of the hippocampus was suggested in special cases. PMID:482533

  7. Irregular Periods

    MedlinePLUS

    ... Safely Irregular Periods KidsHealth > Teens > Sexual Health > For Girls > Irregular Periods Print A A A Text Size ... after the last one. The Menstrual Cycle Most girls get their first period between the ages of ...

  8. Aicardi syndrome

    MedlinePLUS

    ... 3 and 5 months. The condition causes jerking (infantile spasms), a type of childhood seizure. Aicardi syndrome may ... completely missing Female sex Seizures (typically beginning as infantile spasms) Sores on the retina (retinal lesions) or optic ...

  9. Tourette Syndrome

    MedlinePLUS

    ... Tourette (pronounced: tuh-RET) syndrome, named for the French doctor Georges Gilles de la Tourette, who first ... get the condition. Doctors and researchers are continually learning new information about TS and what might lead ...

  10. Postthrombotic Syndrome

    MedlinePLUS

    ... syndrome. Blood . 2009 ; 114 : 4624 –4631. Abstract / FREE Full Text ? Vazquez SR, Freeman A, VanWoerkom RC, Rondina MT. ... CIRCULATIONAHA.109.925651 Extract Free Figures Only Free » Full Text Free PDF Free PPT Slides of All Figures ...

  11. Reye syndrome

    MedlinePLUS

    ... Reye syndrome: Confusion Lethargy Loss of consciousness or coma Mental changes Nausea and vomiting Seizures Unusual placement ... breathing machine may be needed during a deep coma) Fluids by IV to provide electrolytes and glucose ...

  12. Duane Syndrome

    MedlinePLUS

    ... the eye muscles. In Duane syndrome, the sixth cranial nerve that controls the lateral rectus muscle (the muscle ... abnormal innervation of a branch from the third cranial nerve, which normally controls the medial rectus muscle (the ...

  13. Potter syndrome

    MedlinePLUS

    Potter phenotype ... In Potter syndrome, the primary problem is kidney failure. The kidneys fail to develop properly as the baby is ... kidneys normally produce the amniotic fluid (as urine). Potter phenotype refers to a typical facial appearance that ...

  14. Rett Syndrome

    MedlinePLUS

    ... Rett syndrome is a neurodevelopmenal disorder that affects girls almost exclusively. It is characterized by normal early ... occur, although breathing usually improves during sleep. Some girls also display autistic-like symptoms such as loss ...

  15. Alport syndrome

    MedlinePLUS

    ... Learning new skills such as lip reading or sign language and getting hearing aids may help. Young men with Alport syndrome should use hearing protection in noisy environments. Genetic counseling may be recommended because the disorder is inherited.

  16. Usher Syndrome

    MedlinePLUS

    ... called retinitis pigmentosa, or RP. RP causes night-blindness and a loss of peripheral vision (side vision) ... to progress rapidly until the person is completely blind. Type 2 Children with type 2 Usher syndrome ...

  17. Neurocutaneous Syndromes

    MedlinePLUS

    ... local hospital or university for seminars or informational classes about neurocutaneous syndromes. Education can help you be ... site. Note: All information on KidsHealth® is for educational purposes only. For specific medical advice, diagnoses, and ...

  18. Serotonin syndrome

    MedlinePLUS

    ... syndrome will be considered. Tests may include: Blood cultures (to check for infection) Complete blood count (CBC) CT scan of the brain Drug (toxicology) and alcohol screen Electrolyte levels Electrocardiogram (ECG) Kidney and liver ...

  19. Sjogren's Syndrome

    MedlinePLUS

    ... recurrent mouth infections, swollen parotid glands, hoarseness, and difficulty in swallowing and eating. Debilitating fatigue and joint pain can seriously impair quality of life. What research is being done? The goals of research on disorders such as Sjögren's syndrome ...

  20. Bartter syndrome

    MedlinePLUS

    ... syndrome include: High levels of potassium , calcium, and chloride in the urine High levels of the hormones renin and aldosterone in the blood Low blood chloride Metabolic alkalosis These same signs and symptoms can ...

  1. Marfan Syndrome

    MedlinePLUS

    ... de fácil lectura) Other Information Heritable Disorders of Connective Tissue, Q&A Order a NIAMS publication to be ... syndrome is a heritable condition that affects the connective tissue. The primary purpose of connective tissue is to ...

  2. Marfan Syndrome

    MedlinePLUS

    ... disorder in 1896. Marfan syndrome affects the body's connective tissue. Connective tissue is found everywhere in the body. Think of ... a special type of protein that's found in connective tissue. Weakened connective tissue can lead to problems in ...

  3. Marfan Syndrome

    MedlinePLUS

    Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, blood vessels, and other organs. One of these proteins is fibrillin. A problem with the ...

  4. Cushing Syndrome

    MedlinePLUS

    ... The syndrome is named after a brain surgeon, Harvey Cushing, who identified the condition in 1932. 2 ... Shlomo, M., Polonsky, K.S, Larsen, P.R., eds. Williams. Textbook of Endocrinology. 12th ed. Philadelphia, Pa: Saunders ...

  5. Behcet's Syndrome

    MedlinePLUS

    Behcet's syndrome is a disease that involves inflammation of the blood vessels. It causes problems in many parts of the body. The most common symptoms ... National Institute of Arthritis and Musculoskeletal and Skin Diseases

  6. Klinefelter Syndrome

    MedlinePLUS

    ... and guys' bodies begin to make sex hormones, boys with Klinefelter usually don't produce as much ... can affect things like penis and testicle growth. Boys with Klinefelter syndrome may also have problems with ...

  7. Metabolic Syndrome

    MedlinePLUS

    ... to Web version Metabolic Syndrome Overview What is insulin resistance? Your body changes most of the food you ... to insulin. Doctors refer to this condition as insulin resistance. If you have insulin resistance, your body will ...

  8. Marfan syndrome

    PubMed Central

    Jain, Eesha; Pandey, Ramesh Kumar

    2013-01-01

    Marfan syndrome is a rare autosomal dominant disorder of the connective tissue, with skeletal, ligamentous, orooculofacial, pulmonary, abdominal, neurological and the most fatal, cardiovascular manifestations. It has no cure but early diagnosis, regular monitoring and preventive lifestyle regimen ensure a good prognosis. However, the diagnosis can be difficult as it is essentially a clinical one, relying on family history, meticulous physical examination and investigation of involved organ systems. Patients of Marfan syndrome portray very typical physical and orofacial characteristics, suggesting obvious recognition, but due to variable phenotypic expression, cases often go unnoticed unless a full range of attributing features is apparent. Dental practitioners are very likely to encounter patients of Marfan syndrome at an early age as they frequently present for dental treatment. The present case report illustrates the preliminary screening of Marfan syndrome in a dental office followed by timely diagnosis and appropriate referrals. PMID:24336584

  9. Klinefelter syndrome

    MedlinePLUS

    ... arthritis , and Sjogren syndrome Breast cancer in men Depression Learning disabilities, including dyslexia, which affects reading A rare type of tumor called an extragonadal germ cell tumor Lung disease Osteoporosis Varicose veins

  10. Fanconi syndrome

    MedlinePLUS

    ... common cause of Fanconi syndrome in children. Other causes in children include: Exposure to heavy metals such as lead, mercury, or cadmium Lowe's disease, a rare genetic disorder of the eyes, brain, and kidneys Wilson's disease ...

  11. Down Syndrome

    MedlinePLUS

    ... or problems with their heart, stomach or eyes. Intelligence ranges from low normal to very retarded (slow ... a baby who has Down syndrome will be. Intelligence ranges from low normal to very retarded (slow ...

  12. Hyperimmunoglobulin E syndrome

    MedlinePLUS

    Job syndrome; Hyper IgE syndrome ... Hyperimmunoglobulin E syndrome is also called Job syndrome, after the biblical character Job whose faithfulness was tested by an affliction with draining skin sores and pustules . People with this ...

  13. Carpal Tunnel Syndrome

    MedlinePLUS

    ... Awards Enhancing Diversity Find People About NINDS NINDS Carpal Tunnel Syndrome Information Page Condensed from Carpal Tunnel Syndrome Fact ... en Español Additional resources from MedlinePlus What is Carpal Tunnel Syndrome? Carpal tunnel syndrome is a painful condition caused ...

  14. Post-Polio Syndrome

    MedlinePLUS

    ... Enhancing Diversity Find People About NINDS NINDS Post-Polio Syndrome Information Page Condensed from Post-Polio Syndrome ... Español Additional resources from MedlinePlus What is Post-Polio Syndrome? Post-polio syndrome (PPS) is a condition ...

  15. Shaken Baby Syndrome

    MedlinePLUS

    NINDS Shaken Baby Syndrome Information Page Table of Contents (click to jump to sections) What is Shaken Baby Syndrome? Is there ... Trials Organizations Publicaciones en Español What is Shaken Baby Syndrome? Shaken baby syndrome is a type of ...

  16. Androgen insensitivity syndrome

    MedlinePLUS

    ... at the tip Reifenstein syndrome (also known as Gilbert-Dreyfus syndrome or Lubs syndrome) Infertile male syndrome ... F, Leveno KJ, Bloom SL, et al., eds. Williams Obstetrics . 23rd ed. New York, NY: McGraw-Hill, ...

  17. Facts about Down Syndrome

    MedlinePLUS

    ... Us Information For... Media Policy Makers Facts about Down Syndrome Language: English Español (Spanish) Recommend on Facebook Tweet ... families affected by Down syndrome » What is Down Syndrome? Down syndrome is a condition in which a ...

  18. Miller Fisher Syndrome

    MedlinePLUS

    NINDS Miller Fisher Syndrome Information Page Synonym(s): Fisher Syndrome Table of Contents (click to jump to sections) What is Miller Fisher ... and Information Publicaciones en Español What is Miller Fisher Syndrome? Miller Fisher syndrome is a rare, acquired ...

  19. Learning about WAGR Syndrome

    MedlinePLUS

    ... children who have WAGR syndrome may have normal intelligence. Other symptoms of WAGR syndrome may also include: ... mild. Some individuals with WAGR syndrome have normal intelligence. Children with WAGR syndrome should be referred for ...

  20. Data Collection1 Associated with Fish Tagging/Marking Technologies

    E-print Network

    Data Collection1 Associated with Fish Tagging/Marking Technologies Tag/Mark & Release Juvenile fish application: automated Data collection: manual Data upload: manual Collection locations: mainstem, tributary Data collection: visual/manual Data upload: manual Data collection: visual/manual Data upload: manual

  1. [Papillary edema in Muckle-Wells syndrome].

    PubMed

    Wirths, G; Grenzebach, U; Eter, N

    2015-09-01

    Papillary edema may occur isolated without functional impairment or secondary related to various syndromes, increased intracerebral pressure or associated with medicinal treatment. The Muckle-Wells syndrome is a rare disease, which among many other symptoms can lead to optic disc swelling and recurrent increase in intracerebral pressure. Besides familial cold-induced autoinflammatory syndrome (FCAS) and neonatal onset multisystem inflammatory disease (NOMID), the Muckle-Wells syndrome also belongs to the cryopyrin-associated periodic syndromes (CAPS). In most cases of CAP syndromes there is an underlying genetic disorder that leads to overproduction of interleukin-1? (IL-1?); therefore, typical symptoms include inflammation reactions, such as repeated skin rash, fatigue, fever, joint pain and conjunctivitis. PMID:25614348

  2. Flammer syndrome

    PubMed Central

    2014-01-01

    The new term Flammer syndrome describes a phenotype characterized by the presence of primary vascular dysregulation together with a cluster of symptoms and signs that may occur in healthy people as well as people with disease. Typically, the blood vessels of the subjects with Flammer syndrome react differently to a number of stimuli, such as cold and physical or emotional stress. Nearly all organs, particularly the eye, can be involved. Although the syndrome has some advantages, such as protection against the development of atherosclerosis, Flammer syndrome also contributes to certain diseases, such as normal tension glaucoma. The syndrome occurs more often in women than in men, in slender people than in obese subjects, in people with indoor rather than outdoor jobs, and in academics than in blue collar workers. Affected subjects tend to have cold extremities, low blood pressure, prolonged sleep onset time, shifted circadian rhythm, reduced feeling of thirst, altered drug sensitivity, and increased general sensitivity, including pain sensitivity. The plasma level of endothelin-1 is slightly increased, and the gene expression in lymphocytes is changed. In the eye, the retinal vessels are stiffer and their spatial variability larger; the autoregulation of ocular blood flow is decreased. Glaucoma patients with Flammer syndrome have an increased frequency of the following: optic disc hemorrhages, activated retinal astrocytes, elevated retinal venous pressure, optic nerve compartmentalization, fluctuating diffuse visual field defects, and elevated oxidative stress. Further research should lead to a more concise definition, a precise diagnosis, and tools for recognizing people at risk. This may ultimately lead to more efficient and more personalized treatment. PMID:25075228

  3. Flammer syndrome.

    PubMed

    Konieczka, Katarzyna; Ritch, Robert; Traverso, Carlo Enrico; Kim, Dong Myung; Kook, Michael Scott; Gallino, Augusto; Golubnitschaja, Olga; Erb, Carl; Reitsamer, Herbert A; Kida, Teruyo; Kurysheva, Natalia; Yao, Ke

    2014-01-01

    The new term Flammer syndrome describes a phenotype characterized by the presence of primary vascular dysregulation together with a cluster of symptoms and signs that may occur in healthy people as well as people with disease. Typically, the blood vessels of the subjects with Flammer syndrome react differently to a number of stimuli, such as cold and physical or emotional stress. Nearly all organs, particularly the eye, can be involved. Although the syndrome has some advantages, such as protection against the development of atherosclerosis, Flammer syndrome also contributes to certain diseases, such as normal tension glaucoma. The syndrome occurs more often in women than in men, in slender people than in obese subjects, in people with indoor rather than outdoor jobs, and in academics than in blue collar workers. Affected subjects tend to have cold extremities, low blood pressure, prolonged sleep onset time, shifted circadian rhythm, reduced feeling of thirst, altered drug sensitivity, and increased general sensitivity, including pain sensitivity. The plasma level of endothelin-1 is slightly increased, and the gene expression in lymphocytes is changed. In the eye, the retinal vessels are stiffer and their spatial variability larger; the autoregulation of ocular blood flow is decreased. Glaucoma patients with Flammer syndrome have an increased frequency of the following: optic disc hemorrhages, activated retinal astrocytes, elevated retinal venous pressure, optic nerve compartmentalization, fluctuating diffuse visual field defects, and elevated oxidative stress. Further research should lead to a more concise definition, a precise diagnosis, and tools for recognizing people at risk. This may ultimately lead to more efficient and more personalized treatment. PMID:25075228

  4. IL-1 Blockade in Autoinflammatory Syndromes1

    PubMed Central

    Jesus, Adriana A.; Goldbach-Mansky, Raphaela

    2014-01-01

    Monogenic autoinflammatory syndromes present with excessive systemic inflammation including fever, rashes, arthritis, and organ-specific inflammation and are caused by defects in single genes encoding proteins that regulate innate inflammatory pathways. Pathogenic variants in two interleukin-1 (IL-1)–regulating genes, NLRP3 and IL1RN, cause two severe and early-onset autoinflammatory syndromes, CAPS (cryopyrin associated periodic syndromes) and DIRA (deficiency of IL-1 receptor antagonist). The discovery of the mutations that cause CAPS and DIRA led to clinical and basic research that uncovered the key role of IL-1 in an extended spectrum of immune dysregulatory conditions. NLRP3 encodes cryopyrin, an intracellular “molecular sensor” that forms a multimolecular platform, the NLRP3 inflammasome, which links “danger recognition” to the activation of the proinflammatory cytokine IL-1?. The success and safety profile of drugs targeting IL-1 in the treatment of CAPS and DIRA have encouraged their wider use in other autoinflammatory syndromes including the classic hereditary periodic fever syndromes (familial Mediterranean fever, TNF receptor–associated periodic syndrome, and hyperimmunoglobulinemia D with periodic fever syndrome) and additional immune dysregulatory conditions that are not genetically well defined, including Still’s, Behcet’s, and Schnitzler diseases. The fact that the accumulation of metabolic substrates such as monosodium urate, ceramide, cholesterol, and glucose can trigger the NLRP3 inflammasome connects metabolic stress to IL-1?-mediated inflammation and provides a rationale for therapeutically targeting IL-1 in prevalent diseases such as gout, diabetes mellitus, and coronary artery disease. PMID:24422572

  5. Prenatal Testing for Intellectual Disability: Misperceptions and Reality with Lessons from down Syndrome

    ERIC Educational Resources Information Center

    Acharya, Kruti

    2011-01-01

    Down syndrome is the most common cause of intellectual disability. In the United States, it is recommended that prenatal testing for Down syndrome be offered to all women. Because of this policy and consequent public perception, having Down syndrome has become a disadvantage in the prenatal period. However, in the postnatal period, there may be…

  6. Down's syndrome and early cataract

    PubMed Central

    Haargaard, B; Fledelius, H C

    2006-01-01

    Aims To estimate the occurrence of early cataract among patients with Down's syndrome and to evaluate the clinical characteristics of the cases. Methods Cases with Down's syndrome were ascertained from a cohort of all Danish children between 0 and 17?years of age, who were diagnosed with cataract during the period 1977–2001 (n?=?1027). Information on the patients was obtained from the medical records. Results Of the total of 1027 cases with non?traumatic, non?acquired cataract there were 29 cases (13 males, 16 females) with Down's syndrome (2.8%). This corresponds to an occurrence of early cataract among patients with Down's syndrome of 1.4%; 27 had bilateral cataract and two had unilateral cataract. Half of the patients (n?=?14) underwent cataract surgery, of whom two had bilateral primary lens implantation. 10 patients had bilateral cataract observed soon after birth, and five of these underwent cataract surgery within the first 6?months of life. Conclusion The frequency of early cataract among children with Down's syndrome is estimated to be 1.4%, with cataracts requiring surgery during childhood being even rarer. In one third of the 29 cases, bilateral cataract was detected in the neonatal period. PMID:16672328

  7. Rett Syndrome.

    ERIC Educational Resources Information Center

    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.…

  8. Levator Syndrome

    MedlinePLUS

    ... Normal (News) Small Hospitals Seeing More Drug-Resistant E. Coli Infections Additional Content Medical News Levator Syndrome By Parswa ... News HealthDay Small Hospitals Seeing More Drug-Resistant E. Coli Infections WEDNESDAY, Oct. 14, 2015 (HealthDay News) -- Drug-resistant ...

  9. Alport Syndrome

    MedlinePLUS

    ... older the risk of kidney failure increases. All boys and girls with the autosomal recessive type of Alport Syndrome ... with this disease have the X-linked type. Boys with this type are severely ... in their lives. Girls with this type usually have milder symptoms than ...

  10. Pendred Syndrome

    MedlinePLUS

    ... to gain communication skills, such as learning sign language or cued speech or learning to use a hearing aid . Most people with Pendred syndrome will have hearing loss significant enough to be considered ... speech, and language. Use the following keywords to help you find ...

  11. Carpal Tunnel Syndrome

    PubMed Central

    Hodgkins, Michael L.; Grady, Deborah

    1988-01-01

    Carpal tunnel syndrome is a common and potentially disabling condition. When suspected, the diagnosis can be readily made on clinical evidence without the the need for extensive ancillary tests. Primary physicians should be able to manage most patients with medical therapy. Patients for whom medical treatment fails or who present with weakness or thenar atrophy should be referred to a competent hand surgeon. Most patients can expect to have a good outcome if the diagnosis is made early, appropriate therapy is instituted, and a periodic reassessment is done to guide further clinical decisions. Images PMID:3348036

  12. The Source for Syndromes.

    ERIC Educational Resources Information Center

    Richard, Gail J.; Hoge, Debra Reichert

    Designed for practicing speech-language pathologists, this book discusses different syndrome disabilities, pertinent speech-language characteristics, and goals and strategies to begin intervention efforts at a preschool level. Chapters address: (1) Angelman syndrome; (2) Asperger syndrome; (3) Down syndrome; (4) fetal alcohol syndrome; (5) fetal…

  13. Fluency Disorders in Genetic Syndromes

    ERIC Educational Resources Information Center

    Van Borsel, John; Tetnowski, John A.

    2007-01-01

    The characteristics of various genetic syndromes have included "stuttering" as a primary symptom associated with that syndrome. Specifically, Down syndrome, fragile X syndrome, Prader-Willi syndrome, Tourette syndrome, Neurofibromatosis type I, and Turner syndrome all list "stuttering" as a characteristic of that syndrome. An extensive review of…

  14. Dumping Syndrome.

    PubMed

    Hasler, William L.

    2002-04-01

    The dumping syndrome consists of early postprandial abdominal and vasomotor symptoms, resulting from osmotic fluid shifts and release of vasoactive neurotransmitters, and late symptoms secondary to reactive hypoglycemia. Effective relief of symptoms of dumping syndrome can be achieved with dietary modifications to minimize ingestion of simple carbohydrates and to exclude fluid intake during ingestion of the solid portion of the meal. More severely affected individuals may respond to agents such as pectin and guar, which increase the viscosity of intraluminal contents, or to drugs such as the alpha-glucosidase inhibitor acarbose, which blunts the rapid absorption of glucose, and the somatostatin analog octreotide, which alters gut transit and impairs release of vasoactive mediators into the bloodstream. PMID:11879594

  15. Paraneoplastic syndromes

    SciTech Connect

    Weller, R.E.

    1994-03-01

    Paraneoplastic syndromes (PNS) comprise a diverse group of disorders that are associated with cancer but unrelated to the size, location, metastases, or physiologic activities of the mature tissue of origin. They are remote effects of tumors that may appear as signs, symptoms, or syndromes which can mimic other disease conditions encountered in veterinary medicine. Recognition of PNS is valuable for several reasons: the observed abnormalities may represent tumor cell markers and facilitate early diagnosis of the tumor; they may allow assessment of premalignant states; they may aid in the search metastases; they may help quantify and monitor response to therapy; and, they may provide insight into the study of malignant transformation and oncogene expression. This review will concentrate on the pathophysiology, diagnosis, and treatment of some of the common PNS encountered in veterinary medicine.

  16. Central Pain Syndrome

    MedlinePLUS

    ... Enhancing Diversity Find People About NINDS NINDS Central Pain Syndrome Information Page Table of Contents (click to ... being done? Clinical Trials Organizations What is Central Pain Syndrome? Central pain syndrome is a neurological condition ...

  17. Carpal tunnel syndrome

    MedlinePLUS

    ... pain, numbness, tingling, or weakness. This is called carpal tunnel syndrome. ... Some people who develop carpal tunnel syndrome were born with a small carpal tunnel. Carpal tunnel syndrome can also be caused by making the same hand and ...

  18. Carpal Tunnel Syndrome

    MedlinePLUS

    ... Career Awards Enhancing Diversity Find People About NINDS Carpal Tunnel Syndrome Fact Sheet See a list of all NINDS ... a key nerve in the wrist. What is carpal tunnel syndrome? Carpal tunnel syndrome occurs when the median nerve, ...

  19. Down Syndrome: Eye Problems

    MedlinePLUS

    ... eye problems. Do children with Down syndrome have eye problems? Individuals with Down syndrome are at increased ... When should children with Down syndrome receive an eye exam? The American Academy of Pediatrics recommends that ...

  20. Complex Regional Pain Syndrome

    MedlinePLUS

    ... NINDS Complex Regional Pain Syndrome Information Page Synonym(s): Reflex Sympathetic Dystrophy Syndrome, Causalgia Condensed from Complex Regional ... Tel: 813-907-2312 Fax: 813-830-7446 Reflex Sympathetic Dystrophy Syndrome Association (RSDSA) P.O. Box ...

  1. Reye syndrome - resources

    MedlinePLUS

    Resources - Reye syndrome ... The following organizations are good resources for information on Reye Syndrome : National Reye's Syndrome Foundation, Inc. - www.reyessyndrome.org National Institute of Neurologic Disorders and Stroke - www. ...

  2. Ramsay Hunt syndrome

    MedlinePLUS

    Hunt syndrome; Herpes oticus ... The varicella zoster virus that causes Ramsay Hunt syndrome is the same virus that causes chickenpox and shingles. In people with Ramsay Hunt syndrome, the virus is believed to infect the ...

  3. Heart and Down Syndrome

    MedlinePLUS

    ... Associated Conditions » The Heart & Down Syndrome The Heart & Down Syndrome Abnormalities of the cardiovascular system are common in ... the Most Common Heart Defects in Children With Down Syndrome? The most common defects are Atrioventricular Septal Defect ( ...

  4. Down Syndrome (For Parents)

    MedlinePLUS

    ... Kids Deal With Bullies Pregnant? What to Expect Down Syndrome KidsHealth > Parents > Diseases & Conditions > Genetic, Chromosomal & Metabolic Conditions > ... Screening and Diagnosis Resources That Can Help About Down Syndrome Down syndrome (DS), also called Trisomy 21, is ...

  5. National Down Syndrome Society

    MedlinePLUS

    donate Entire Site Down Syndrome Resources Ways to Give My Great Story Buddy Walk® Advocacy About NDSS The National Advocate for People with Down Syndrome Since 1979 National Down Syndrome Society 666 Broadway, ...

  6. What Causes Down Syndrome?

    MedlinePLUS

    ... Information Clinical Trials Resources and Publications What causes Down syndrome? Skip sharing on social media links Share this: ... Down Syndrome Registry? . Chromosomal Changes That Can Cause Down Syndrome Research shows that three types of chromosomal changes ...

  7. Ectopic Cushing syndrome

    MedlinePLUS

    ... in which a tumor outside the pituitary or adrenal glands produces a hormone called adrenocorticotropic hormone (ACTH). ... syndrome include: Cushing disease Cushing syndrome caused by adrenal tumor Exogenous Cushing syndrome

  8. Sexuality and Down Syndrome

    MedlinePLUS

    ... Down Syndrome Managing Behavior Sexuality Sexuality & Down Syndrome Social and Sexual Education Recreation & Friendship Education Education & Down Syndrome Schooling from Preschool to Age 21 Implementing Inclusion College & Postsecondary Options Looking for Postsecondary Education O' ...

  9. Sturge-Weber Syndrome

    MedlinePLUS

    ... Enhancing Diversity Find People About NINDS NINDS Sturge-Weber Syndrome Information Page Synonym(s): Encephalotrigeminal Angiomatosis Table of ... being done? Clinical Trials Organizations What is Sturge-Weber Syndrome? Sturge-Weber syndrome is a neurological disorder ...

  10. Tethered Spinal Cord Syndrome

    MedlinePLUS

    ... Enhancing Diversity Find People About NINDS NINDS Tethered Spinal Cord Syndrome Information Page Table of Contents (click to ... being done? Clinical Trials Organizations What is Tethered Spinal Cord Syndrome? Tethered spinal cord syndrome is a neurological ...

  11. Restless Legs Syndrome

    MedlinePLUS

    ... Legs Syndrome Overview What is restless legs syndrome (RLS)? Restless legs syndrome (also called RLS) is a condition in which your legs feel ... age and becomes a problem for older adults. RLS can make sleeping and traveling difficult and uncomfortable. ...

  12. Learning about Down Syndrome

    MedlinePLUS

    ... for the mothers of infants with Down syndrome. Intelligence in individuals with Down syndrome ranges from low ... is not possible to tell the level of intelligence a baby with Down syndrome will have. All ...

  13. Startle syndromes.

    PubMed

    Bhidayasiri, Roongroj; Truong, Daniel D

    2011-01-01

    Startle refers to a sudden involuntary movement of the body in response to a surprising and unexpected stimulus. It is a fast twitch of facial and body muscles evoked by a sudden and intense tactile, visual, or acoustic stimulus. While startle can be considered to be a protective function against injury, startle syndromes are abnormal responses to startling events, consisting of three heterogeneous groups of disorders. The first is hyperekplexia, characterized by brisk and generalized startle in response to trivial stimulation. The major form of hereditary hyperekplexia has a genetic basis, frequently due to mutations in the ?1 subunit of the glycine receptor (GLRA1) on chromosome 5q. In the second group, normal startle induces complex but stereotyped motor and/or behavioral abnormalities lasting several seconds, termed as startle epilepsy. It usually occurs in the setting of severe brain damage, particularly perinatal hypoxia. The third group is characterized by nonhabituating hyperstartling, provoked by loud noises, sudden commands, or gestures. The intensity of startle response tends to increase with frequency of stimulation, which often leads to injury. Interestingly, its occurrence is restricted to certain social or ethnic groups in different parts of the world, such as jumping Frenchmen of Maine among Franco-Canadian lumberjack communities, and Latah in Southeast Asia. So far, no neurological abnormalities have been reported in association with these neuropsychiatric startle syndromes. In this chapter, the authors discuss the clinical presentation, physiology, and the neuronal basis of the normal human startle as well as different groups of abnormal startle syndromes. The aim is to provide an overview of hyperstartling with some diagnostic hints and the distinguishing features among these syndromes. PMID:21496599

  14. [Nager syndrome].

    PubMed

    Opitz, C; Shetty, D K; Witkowski, R

    1998-05-01

    In this publication, Nager syndrome was analyzed in the literature and six patients from our clinic were evaluated in relation to symptoms, etiology and pathogenesis. The diseases to be considered when making a differential diagnosis are pointed out. Clarification of the etiology is still pending. Molecular genetic research in these patients is possibly the key for new findings. A case report illustrates the results of interdisciplinary treatment by the surgeon and orthodontist. Possibilities and problems in relation to therapy are demonstrated. PMID:9658800

  15. Brugada Syndrome

    PubMed Central

    ANTZELEVITCH, CHARLES

    2007-01-01

    First introduced as a new clinical entity in 1992, the Brugada syndrome is associated with a relatively high risk of sudden death in young adults, and occasionally in children and infants. Recent years have witnessed a striking proliferation of papers dealing with the clinical and basic aspects of the disease. Characterized by a coved-type ST-segment elevation in the right precordial leads of the electrocardiogram (ECG), the Brugada syndrome has a genetic basis that thus far has been linked only to mutations in SCN5A, the gene that encodes the ?-subunit of the sodium channel. The Brugada ECG is often concealed, but can be unmasked or modulated by a number of drugs and pathophysiological states including sodium channel blockers, a febrile state, vagotonic agents, tricyclic antidepressants, as well as cocaine and propranolol intoxication. Average age at the time of initial diagnosis or sudden death is 40 ± 22, with the youngest patient diagnosed at 2 days of age and the oldest at 84 years. This review provides an overview of the clinical, genetic, molecular, and cellular aspects of the Brugada syndrome, incorporating the results of two recent consensus conferences. Controversies with regard to risk stratification and newly proposed pharmacologic strategies are discussed. PMID:17038146

  16. Nutcracker syndrome

    PubMed Central

    Gulleroglu, Kaan; Gulleroglu, Basak; Baskin, Esra

    2014-01-01

    The nutcracker phenomenon [left renal vein (LRV) entrapment syndrome] refers to compression of the LRV most commonly between abdominal aorta and superior mesenteric artery. Term of nutcracker syndrome (NCS) is used for patients with clinical symptoms associated with nutcracker anatomy. LRV entrapment divided into 2 types: anterior and posterior. Posterior and right-sided NCSs are rare conditions. The symptoms vary from asymptomatic hematuria to severe pelvic congestion. Symptoms include hematuria, orthostatic proteinuria, flank pain, abdominal pain, varicocele, dyspareunia, dysmenorrhea, fatigue and orthostatic intolerance. Existence of the clinical features constitutes a basis for the diagnosis. Several imaging methods such as Doppler ultrasonography, computed tomography angiography, magnetic resonance angiography and retrograde venography are used to diagnose NCS. The management of NCS depends upon the clinical presentation and the severity of the LRV hypertension. The treatment options are ranged from surveillance to nephrectomy. Treatment decision should be based on the severity of symptoms and their expected reversibility with regard to patient’s age and the stage of the syndrome. PMID:25374822

  17. Gitelman syndrome.

    PubMed

    Cotovio, Patricia; Silva, Cristina; Oliveira, Nuno; Costa, Fátima

    2013-01-01

    Hypokalaemia is a common clinical disorder, the cause of which can usually be determined by the patient's clinical history. Gitelman syndrome is an inherited tubulopathy that must be considered in some settings of hypokalaemia. We present the case of a 60-year-old male patient referred to our nephrology department for persistent hypokalaemia. Clinical history was positive for symptoms of orthostatic hypotension and polyuria. There was no history of drugs consumption other than potassium supplements. Complementary evaluation revealed hypokalaemia (2.15 mmol/l), hypomagnesaemia (0.29 mmol/l), metabolic alkalosis (pH 7.535, bicarbonate 34.1 mmol/l), hypereninaemia (281.7 U/ml), increased chloride (160 mmol/l) and sodium (126 mmol/l) urinary excretion and reduced urinary calcium excretion (0.73 mmol/l). Renal function, remainder serum and urinary ionogram, and renal ultrasound were normal. A diagnosis of Gitelman syndrome was established. We reinforced oral supplementation with potassium chloride and magnesium sulfate. Serum potassium stabilised around 3 mmol/l. The aim of our article is to remind Gitelman syndrome in the differential diagnosis of persistent hypokalaemia. PMID:23585506

  18. Anserine syndrome.

    PubMed

    Helfenstein, Milton; Kuromoto, Jorge

    2010-01-01

    Knee pain is a common complaint in clinical practice, and pes anserinus tendino-bursitis syndrome (PATB) has been frequently diagnosed based only on clinical features that may cause equivocal interpretations. Patients complain of characteristic spontaneous medial knee pain with tenderness in the inferomedial aspect of the joint. Studies with different imaging modalities have been undertaken during the last years to identify whether these patients suffer from bursitis, tendinitis, or both. Nevertheless, little is known regarding the structural defect responsible for this disturbance. Due to these problems and some controversies, we suggest the term "anserine syndrome" for this condition. Diabetes Mellitus is a known predisposing factor for this syndrome. Overweight and osteoarthritis seem to represent additional risk factors; however, their role in the pathophysiology of the disease is not yet understood. Treatment includes non-steroidal anti-inflammatory drugs, physiotherapy, and injections of corticosteroid, with highly variable responses, from 10 days to 36 months to achieve recovery. The lack of knowledge about its epidemiological, etiological, and pathophysiological aspects requires future studies for this common and intriguing disorder. PMID:21125167

  19. Morvan Syndrome

    PubMed Central

    Maskery, Mark; Chhetri, Suresh K.; Dayanandan, Rejith; Gall, Claire

    2016-01-01

    A 74-year-old gentleman was admitted to the regional neurosciences center with encephalopathy, myokymia, and dysautonomia. Chest imaging had previously identified an incidental mass in the anterior mediastinum, consistent with a primary thymic tumor. Antivoltage-gated potassium channel (anti-VGKC) antibodies were positive (titer 1273 pmol/L) and he was hypokalemic. Electromyogram and nerve conduction studies were in keeping with peripheral nerve hyperexcitability syndrome, and an electroencephalogram was consistent with encephalopathy. A diagnosis of Morvan syndrome was made, for which he was initially treated with high-dose steroids, followed by a 5-day course of intravenous immunoglobulin (IVIG) therapy. He also underwent thymectomy, followed by a postexcision flare of his symptoms requiring intensive care management. Further steroids, plasmapheresis, and IVIG achieved stabilization of his clinical condition, enabling transfer for inpatient neurorehabilitation. He was commenced on azathioprine and a prolonged oral steroid taper. A subsequent presumed incipient relapse responded well to further IVIG treatment. This case report documents a thymoma-associated presentation of anti-VGKC-positive Morvan syndrome supplemented by patient and carer narrative and video, both of which provide valuable further insights into this rare disorder. There are a limited number of publications surrounding this rare condition available in the English literature. This, combined with the heterogenous presentation, association with underlying malignancy, response to treatment, and prognosis, provides a diagnostic challenge. However, the association with anti-VGKC antibody-associated complexes and 2 recent case series have provided some scope for both accurate diagnosis and management.

  20. Types of Myelodysplastic Syndromes

    MedlinePLUS

    ... Article Close Push escape to close saved articles window. My Saved Articles » My ACS » Myelodysplastic Syndromes + - Text Size Download Printable Version [PDF] » What Is Myelodysplastic Syndrome? TOPICS ...

  1. Radiation-induced moyamoya syndrome

    SciTech Connect

    Desai, Snehal S.; Paulino, Arnold C. . E-mail: apaulino@tmh.tmc.edu; Mai, Wei Y.; Teh, Bin S.

    2006-07-15

    Purpose: The moyamoya syndrome is an uncommon late complication after radiotherapy (RT). Methods and Materials: A PubMed search of English-language articles, with radiation, radiotherapy, and moyamoya syndrome used as search key words, yielded 33 articles from 1967 to 2002. Results: The series included 54 patients with a median age at initial RT of 3.8 years (range, 0.4 to 47). Age at RT was less than 5 years in 56.3%, 5 to 10 years in 22.9%, 11 to 20 years in 8.3%, 21 to 30 years in 6.3%, 31 to 40 years in 2.1%, and 41 to 50 years in 4.2%. Fourteen of 54 patients (25.9%) were diagnosed with neurofibromatosis type 1 (NF-1). The most common tumor treated with RT was low-grade glioma in 37 tumors (68.5%) of which 29 were optic-pathway glioma. The average RT dose was 46.5 Gy (range, 22-120 Gy). For NF-1-positive patients, the average RT dose was 46.5 Gy, and for NF-1-negative patients, it was 58.1 Gy. The median latent period for development of moyamoya syndrome was 40 months after RT (range, 4-240). Radiation-induced moyamoya syndrome occurred in 27.7% of patients by 2 years, 53.2% of patients by 4 years, 74.5% of patients by 6 years, and 95.7% of patients by 12 years after RT. Conclusions: Patients who received RT to the parasellar region at a young age (<5 years) are the most susceptible to moyamoya syndrome. The incidence for moyamoya syndrome continues to increase with time, with half of cases occurring within 4 years of RT and 95% of cases occurring within 12 years. Patients with NF-1 have a lower radiation-dose threshold for development of moyamoya syndrome.

  2. An infrared supershell surrounding the Cygnus OB1 association

    NASA Technical Reports Server (NTRS)

    Saken, Jon M.; Shull, J. M.; Garmany, Catharine D.; Nichols-Bohlin, Joy; Fesen, Robert A.

    1992-01-01

    New studies are reported of a large, 2 x 5 deg peanut-shaped cavity in the far-infrared emission seen using IRAS data for the Cygnus X region. A more complete and better defined infrared supershell than reported by Lozinskaya and Repin (1990) is found and connected to the Cyg OB1 association. It is shown that the cavity represents the early stages of a superbubble produced by the winds and possible SNe from 10 to 20 massive stars. The locations and properties of these stars are used to estimate the energy deposition rate and to understand the manner in which supershells form and propagate. In Cyg OB1, spatially distributed subclustering appears to have played an important role in determining the nonspherical morphology of the superbubble.

  3. [Hyperviscosity syndrome].

    PubMed

    Dumas, G; Merceron, S; Zafrani, L; Canet, E; Lemiale, V; Kouatchet, A; Azoulay, E

    2015-09-01

    Hyperviscosity syndrome is a life-threatening complication. Clinical manifestations include neurological impairment, visual disturbance and bleeding. Measurement of plasma or serum viscosity by a viscometer assesses the diagnosis. Funduscopic examination is a key exam because abnormalities are well-correlated with abnormal plasma viscosity. Etiologies are various but symptomatic hyperviscosity is more common in Waldenström's macroglobulinemia and multiple myeloma. Prompt treatment is needed: treatment of the underlying disease should be considered, but generally not sufficient. Symptomatic measures aim to not exacerbate blood viscosity while urgent plasmapheresis effectively reduces the paraprotein concentration and relieves symptoms. PMID:25778852

  4. Postmenopausal syndrome.

    PubMed

    Dalal, Pronob K; Agarwal, Manu

    2015-07-01

    Menopause is one of the most significant events in a woman's life and brings in a number of physiological changes that affect the life of a woman permanently. There have been a lot of speculations about the symptoms that appear before, during and after the onset of menopause. These symptoms constitute the postmenopausal syndrome; they are impairing to a great extent to the woman and management of these symptoms has become an important field of research lately. This chapter attempts to understand these symptoms, the underlying pathophysiology and the management options available. PMID:26330639

  5. Postmenopausal syndrome

    PubMed Central

    Dalal, Pronob K.; Agarwal, Manu

    2015-01-01

    Menopause is one of the most significant events in a woman's life and brings in a number of physiological changes that affect the life of a woman permanently. There have been a lot of speculations about the symptoms that appear before, during and after the onset of menopause. These symptoms constitute the postmenopausal syndrome; they are impairing to a great extent to the woman and management of these symptoms has become an important field of research lately. This chapter attempts to understand these symptoms, the underlying pathophysiology and the management options available. PMID:26330639

  6. Holmes-Adie Syndrome

    MedlinePLUS

    ... Adie syndrome Information Page Synonym(s): Adie's Syndrome, Adie's Pupil Table of Contents (click to jump to sections) What is Holmes-Adie syndrome ? Is there any treatment? What is the prognosis? What ... syndrome (HAS) is a neurological disorder affecting the pupil of the eye and the autonomic nervous system. ...

  7. Turner Syndrome

    PubMed Central

    Kesler, SR

    2007-01-01

    Turner syndrome (TS) is a neurogenetic disorder characterized by partial or complete monosomy-X. TS is associated with certain physical and medical features including estrogen deficiency, short stature and increased risk for several diseases with cardiac conditions being among the most serious. Girls with TS are typically treated with growth hormone and estrogen replacement therapies to address short stature and estrogen deficiency. The cognitive-behavioral phenotype associated with TS includes strengths in verbal domains with impairments in visual-spatial, executive function and emotion processing. Genetic analyses have identified the short stature homeobox (SHOX) gene as being a candidate gene for short stature and other skeletal abnormalities associated with TS but currently the gene or genes associated with cognitive impairments remain unknown. However, significant progress has been made in describing neurodevelopmental and neurobiologic factors underlying these impairments and potential interventions are on the horizon. Less is known regarding psychosocial and psychiatric functioning in TS but essential aspects of psychotherapeutic treatment plans are suggested in this report. Future investigations of TS should include continued genetic studies such as microarray analyses and determination of candidate genes for both physical and cognitive features. Multimodal, interdisciplinary studies will be essential for identifying optimal, syndrome-specific interventions for improving the lives of individuals with TS. PMID:17562588

  8. [Mirizzi's syndrome].

    PubMed

    Roullet-Audy, J C; Guivarc'h, M; Mosnier, H

    1989-04-15

    Six cases of Mirizzi syndrome are reported. The syndrome consists of a special anatomical variant of the cystic duct, which has a low opening but runs side-by-side with the common bile duct, associated with entrapment of a gallstone in the cystic duct or the neck of the gallbladder, partial or total obstruction of the hepatic duct by the stone and by inflammatory lesions, and recurrent cholangitis. Clinical signs are non-specific and suggest at first sight an obstructive jaundice. Pre-operative morphological examination seldom provide a diagnosis before surgery. In the most typical cases ultrasonography shows dilatation of the upper biliary tract with narrowing of the hepatic duct below the dilatation, due to a stone located outside the common bile duct. Opacification of the biliary tract by endoscopic retrograde catheterization of the papilla duodeni or by transparietohepatic puncture give suggestive images (non-opacification of the cystic duct, narrowing of the hepatic duct opposite the extrinsic compression, with overlying dilatation), but these images are not specific. The per-operative diagnosis is difficult owing to the inflammatory lesions, and a diagnosis of cholangiocarcinoma may be envisaged. Cholecystectomy with recanalization of the cystic duct suppresses the extrinsic compression and helps the inflammatory lesions to regress. However, opening and draining the common bile duct is often necessary. PMID:2524051

  9. Imaging manifestations of a dreaded obstetric complication in the immediate postpartum period

    PubMed Central

    Zarghouni, Mehrzad; Cannon, Walter

    2014-01-01

    HELLP (hemolysis, elevated liver enzymes, low platelet) syndrome is a dreaded complication that may develop during pregnancy or in the immediate postpartum period. Rarely this syndrome manifests itself with imaging findings. We report a case of HELLP syndrome in which the diagnosis was reaffirmed via imaging findings. PMID:24688204

  10. Metabolic Syndrome: Polycystic Ovary Syndrome.

    PubMed

    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. PMID:26280343

  11. Extrapyramidal syndrome

    PubMed Central

    Panda, Akhila Kumar; Bala, Kiran; Bhirud, Lomesh

    2014-01-01

    Organophosphate (OP) poisoning is a common occurrence in the rural areas of developing countries like India. Acute cholinergic crisis is one of the important causes of mortality related to OP poisoning. Delayed peripheral neuropathy, extrapyramidal syndromes and neuropsychiatric manifestations are the major consequences of secondary neuronal damage. This case illustrates a 14-year-old girl who ingested 50?mL of OP pesticide and developed extrapyramidal symptoms in the form of parkinsonism and hand dystonia in spite of immediate medical attention. MRI of the brain with T2, fluid attenuated inversion recovery and diffusion-weighted sequences revealed bilateral symmetrical basal ganglia hyperintensities. Further follow-up revealed a significant clinical improvement with marked resolutions of the brain lesions. The reversible extrapyramidal symptoms with disappearance of neuroimaging findings without neuropathy or neuropsychiatric manifestations are unusual in OP poisoning. PMID:24398867

  12. Nodding Syndrome

    PubMed Central

    Sejvar, James J.; Riek, Lul; Vandemaele, Katelijn A.H.; Lamunu, Margaret; Kuesel, Annette C.; Schmutzhard, Erich; Matuja, William; Bunga, Sudhir; Foltz, Jennifer; Nutman, Thomas B.; Winkler, Andrea S.; Mbonye, Anthony K.

    2013-01-01

    An epidemic illness characterized by head nodding associated with onchocerciasis has been described in eastern Africa since the early 1960s; we summarize published reports and recent studies. Onset of nodding occurs in previously healthy 5–15-year-old children and is often triggered by eating or cold temperatures and accompanied by cognitive impairment. Its incidence has increased in Uganda and South Sudan over the past 10 years. Four case–control studies identified modest and inconsistent associations. There were nonspecific lesions seen by magnetic resonance imaging, no cerebrospinal fluid inflammation, and markedly abnormal electroencephalography results. Nodding episodes are atonic seizures. Testing has failed to demonstrate associations with trypanosomiasis, cysticercosis, loiasis, lymphatic filariasis, cerebral malaria, measles, prion disease, or novel pathogens; or deficiencies of folate, cobalamin, pyridoxine, retinol, or zinc; or toxicity from mercury, copper, or homocysteine. There is a consistent enigmatic association with onchocerciasis detected by skin snip or serologic analysis. Nodding syndrome is an unexplained epidemic epilepsy. PMID:23965548

  13. Fraser Syndrome.

    PubMed

    Saleem, Adnan Aslam; Siddiqui, Sorath Noorani

    2015-10-01

    Fraser's Syndrome (FS) is a rare autosomal recessive disorder with a spectrum of malformations. The most consistent features are Cryptophthalmos (CO), syndactyly, genitourinary tract abnormalities, laryngeal and tracheal anomalies, craniofacial dysmorphism, malformations of the ear and nose, orofacial clefting and musculoskeletal defects. FS is genetically heterogeneous; so far mutations in FRAS1, FREM2and GRIP1genes have been linked to FS. FS can be diagnosed on clinical examination, pre-natal ultrasound or perinatal autopsy. We present a case of a 3 months old child born to consanguineous healthy parents with bilateral complete CO, unilateral microphthalmia, hypertelorism, syndactyly (hands and feet bilaterally), ambiguous genitalia with cryptorchidism and an umbilical hernia. We also present the criteria for diagnosing FS and the significant features on pre-natal ultrasonography. Around 200 case reports of patients with FS and CO have been published. To our knowledge, this is the first reported case of FS in Pakistan. PMID:26522198

  14. Fifteen-Year Follow-Up of Thyroid Status in Adults with Down Syndrome

    ERIC Educational Resources Information Center

    Prasher, V.; Ninan, S.; Haque, S.

    2011-01-01

    Background: The natural history of thyroid function in adults with Down syndrome is relatively unknown with limited long-term follow-up data. Method: This study investigated annual thyroid function tests in 200 adults with Down syndrome over a 15-year period. Results: For healthy adults with Down syndrome there is a gradual increase in thyroxine…

  15. Syndromes and constitutional chromosomal abnormalities associated with Wilms tumour

    PubMed Central

    Scott, R H; Stiller, C A; Walker, L; Rahman, N

    2006-01-01

    Wilms tumour has been reported in association with over 50 different clinical conditions and several abnormal constitutional karyotypes. Conclusive evidence of an increased risk of Wilms tumour exists for only a minority of these conditions, including WT1 associated syndromes, familial Wilms tumour, and certain overgrowth conditions such as Beckwith?Wiedemann syndrome. In many reported conditions the rare co?occurrence of Wilms tumour is probably due to chance. However, for several conditions the available evidence cannot either confirm or exclude an increased risk, usually because of the rarity of the syndrome. In addition, emerging evidence suggests that an increased risk of Wilms tumour occurs only in a subset of individuals for some syndromes. The complex clinical and molecular heterogeneity of disorders associated with Wilms tumour, together with the apparent absence of functional links between most of the known predisposition genes, suggests that abrogation of a variety of pathways can promote Wilms tumorigenesis. PMID:16690728

  16. Child neurology: Zellweger syndrome.

    PubMed

    Lee, Paul R; Raymond, Gerald V

    2013-05-14

    Zellweger syndrome (ZS) is a severe manifestation of disease within the spectrum of peroxisome biogenesis disorders that includes neonatal adrenoleukodystrophy, infantile Refsum disease, and rhizomelic chondroplasia punctata. Patients with ZS present in the neonatal period with a characteristic phenotype of distinctive facial stigmata, pronounced hypotonia, poor feeding, hepatic dysfunction, and often seizures and boney abnormalities. In patients with ZS, a mutation in one of the PEX genes coding for a peroxin (a peroxisome assembly protein) creates functionally incompetent organelles causing an accumulation of very long chain fatty acids (VLCFA), among other complications. Despite an absence of treatment options, prompt diagnosis of ZS is important for providing appropriate symptomatic care, definitive genetic testing, and counseling regarding family planning. PMID:23671347

  17. Genetics Home Reference: Horner syndrome

    MedlinePLUS

    ... 250 babies are born with Horner syndrome. The incidence of Horner syndrome that appears later is unknown, but it is considered an uncommon disorder. What genes are related to Horner syndrome? Although congenital Horner syndrome can ...

  18. The progressive outer retinal necrosis syndrome.

    PubMed

    Holland, G N

    1994-01-01

    The progressive outer retinal necrosis (PORN) syndrome is a recently described clinical variant of necrotizing herpetic retinopathy in patients with the acquired immunodeficiency syndrome (AIDS). It is caused by varicellazoster virus infection of the retina. Its course and clinical features distinguish it from the acute retinal necrosis syndrome and CMV retinopathy. Early disease is characterized by multifocal deep retinal opacification. Lesions rapidly coalesce and progress to total retinal necrosis over a short period of time. Despite aggressive therapy with intravenous antivirial drugs, prognosis is poor; disease progression and/or recurrence is common, and the majority of patients develop no light perception vision. Total retinal detachments are common. Prophylaxis against retinal detachment using laser retinopexy has not been useful in most cases. PORN syndrome is an uncommon, but devastating complication of AIDS. PMID:7852023

  19. Ophthalmic Disorders in Adults with Down Syndrome

    PubMed Central

    Krinsky-McHale, Sharon J.; Jenkins, Edmund C.; Zigman, Warren B.; Silverman, Wayne

    2012-01-01

    A myriad of ophthalmic disorders is associated with the phenotype of Down syndrome including strabismus, cataracts, and refractive errors potentially resulting in significant visual impairment. Ophthalmic sequelae have been extensively studied in children and adolescents with Down syndrome but less often in older adults. In-depth review of medical records of older adults with Down syndrome indicated that ophthalmic disorders were common. Cataracts were the most frequent ophthalmic disorder reported, followed by refractive errors, strabismus, and presbyopia. Severity of intellectual disability was unrelated to the presence of ophthalmic disorders. Also, ophthalmic disorders were associated with lower vision-dependent functional and cognitive abilities, although not to the extent that was expected. The high prevalence of ophthalmic disorders highlights the need for periodic evaluations and individualized treatment plans for adults with Down syndrome, in general, but especially when concerns are identified. PMID:22570648

  20. Ascher syndrome: Review of literature and case report

    PubMed Central

    Ramesh, B. A.

    2011-01-01

    A 13 year old girl presented with aesthetic deformity of upper lip since birth. She also presented with eyelid swelling on and off for 11 months. She was diagnosed to be a rare case of Ascher syndrome. Ascher syndrome commonly presents with double lip and blepharochalasis, sometimes associated with goitre. The deformity of her double upper lip was corrected by appropriate surgery. Because her blepharochalasis is in active stage now, she is under periodic follow up for appropriate intervention. This article describes the management of the patient and brief overview of the syndrome. Ascher syndrome is often missed or misdiagnosed commonly. PMID:21713204

  1. Refeeding syndrome in a vegan patient with stage IV gastric cancer: a novel case.

    PubMed

    Brown, Teresa V; Moss, Rebecca A

    2015-03-01

    The refeeding syndrome encompasses the complex physiologic state that occurs in malnourished patients who receive nutrition after a period of decreased oral intake. The hallmark of the syndrome is hypophosphatemia, though other electrolyte imbalances and severe fluid shifts are commonly involved. Patients with newly diagnosed malignancies and those undergoing treatment for malignancies are at increased risk for developing the refeeding syndrome, however there are few reported cases or other data in the oncology literature regarding this syndrome in cancer patients. PMID:25880674

  2. Angelman Syndrome.

    PubMed

    Margolis, Seth S; Sell, Gabrielle L; Zbinden, Mark A; Bird, Lynne M

    2015-07-01

    In this review we summarize the clinical and genetic aspects of Angelman syndrome (AS), its molecular and cellular underpinnings, and current treatment strategies. AS is a neurodevelopmental disorder characterized by severe cognitive disability, motor dysfunction, speech impairment, hyperactivity, and frequent seizures. AS is caused by disruption of the maternally expressed and paternally imprinted UBE3A, which encodes an E3 ubiquitin ligase. Four mechanisms that render the maternally inherited UBE3A nonfunctional are recognized, the most common of which is deletion of the maternal chromosomal region 15q11-q13. Remarkably, duplication of the same chromosomal region is one of the few characterized persistent genetic abnormalities associated with autistic spectrum disorder, occurring in >1-2% of all cases of autism spectrum disorder. While the overall morphology of the brain and connectivity of neural projections appear largely normal in AS mouse models, major functional defects are detected at the level of context-dependent learning, as well as impaired maturation of hippocampal and neocortical circuits. While these findings demonstrate a crucial role for ubiquitin protein ligase E3A in synaptic development, the mechanisms by which deficiency of ubiquitin protein ligase E3A leads to AS pathophysiology in humans remain poorly understood. However, recent efforts have shown promise in restoring functions disrupted in AS mice, renewing hope that an effective treatment strategy can be found. PMID:26040994

  3. Pisa Syndrome.

    PubMed

    Michel, Sáenz Farret; Oscar, Arias Carrión; Correa, Thalia Estefania Sánchez; Alejandro, Pellene Luis; Micheli, Federico

    2015-01-01

    Lateral trunk flexion is often seen in patients with Parkinson disease, sometimes coming on as a subacute phenomenon associated with medication adjustments, and in others with gradual onset that seems related to a neurodegenerative process related to the evolution of the disease.Either acute or subacute presentations seem to be pure abnormalities in the coronal plane and are usually reversible. However, a chronic form occurs often in a combined fashion with anteroposterior flexion (camptocormia), improves only partially, remains stable, or even worsens over time.The acute/subacute phenotype is the condition originally named as Pisa syndrome (PS).The pathophysiology of PS remains poorly understood, and a cholinergic-dopaminergic imbalance has been suggested as being involved in the cause of this disorder. The role of other neurotransmitters and how they become dysfunctional in PS remains to be elucidated.Specific treatments, other than discontinuing the medications responsible for the disorder, whenever possible, are undeveloped because of the unknown etiology. PMID:26166239

  4. Eagle's Syndrome.

    PubMed

    Elimairi, Imad; Baur, Dale A; Altay, Mehmet Ali; Quereshy, Faisal A; Minisandram, Amritha

    2015-12-01

    Eagle's Syndrome (ES) refers to a symptomatic anomaly due to elongation of the styloid process or mineralization of the styloid complex. If not diagnosed timely and treated properly, elongation of the styloid process or the hyper-mineralization of the stylohyoid ligament may eventually lead to complete ossification of the stylohyoid complex. Non-specific head and neck symptoms of the ES may pose diagnostic challenges to the clinician. Therefore it is crucial to include ES among differential diagnosis when evaluating patients with similar head and neck symptoms. Once the diagnosis is confirmed, treatment plan should be tailored in accordance with the individual requirements of the case and performed without delay. Both pharmacological and surgical methods have been described for the treatment of the patients with ES. However for those who suffer from persistent symptoms, surgical removal of the elongated styloid process is the treatment of choice and can be done with an intraoral or an extraoral approach. The aim of this work is to present unusual clinical symptoms and radiologic findings of ES due to complete ossification of the stylohyoid complex. The importance of a correct diagnosis and appropriate treatment are highlighted. PMID:25537830

  5. Living with Marfan Syndrome

    MedlinePLUS

    ... avoid strenuous activities, such as weightlifting, skiing, and football. You also may need to avoid sports that ... of your child's Marfan syndrome. Pregnancy Many pregnant women who have Marfan syndrome have safe and normal ...

  6. Tourette Syndrome (For Parents)

    MedlinePLUS

    ... Tourette Syndrome Tourette syndrome (TS) is named for French doctor Georges Gilles de la Tourette, who first ... hyperactivity disorder (ADHD) or obsessive-compulsive disorder (OCD) . Learning disabilities and sleeping problems are also common in ...

  7. Carpal Tunnel Syndrome

    MedlinePLUS

    ... arm. Just a passing cramp? It could be carpal tunnel syndrome. The carpal tunnel is a narrow passageway of ... Women are three times more likely to have carpal tunnel syndrome than men. Early diagnosis and treatment are important ...

  8. Dubin-Johnson syndrome

    MedlinePLUS

    Dubin-Johnson syndrome is a disorder passed down through families (inherited) in which a person has mild jaundice throughout ... Dubin-Johnson syndrome is a very rare genetic disorder. In order to inherit the condition, a child must get ...

  9. Anisocoria and Horner's Syndrome

    MedlinePLUS

    ... In children, Horner’s syndrome may be caused by neuroblastoma, a tumor arising in another part of the body. Although rare, the risk of neuroblastoma is significantly greater with acquired Horner’s syndrome than ...

  10. Schwartz–Jampel syndrome

    PubMed Central

    Chandra, Sadanandavalli Retnaswami; Issac, Thomas Gregor; Gayathri, N.; Shivaram, Sumanth

    2015-01-01

    Schwartz–Jampel syndrome is a very rare congenital myotonic syndrome with typical phenotypic and electrophysiological features. Diagnosis is made by awareness into the typical phenotypic characters. PMID:26167227

  11. Learning about Klinefelter Syndrome

    MedlinePLUS

    ... may have enough normally functioning cells in the testes to allow them to father children. Klinefelter syndrome ... syndrome may have the following symptoms: small, firm testes, a small penis, sparse pubic, armpit and facial ...

  12. Restless legs syndrome

    MedlinePLUS

    ... restless legs syndrome: a systematic review and meta-analysis. Eur J Neurol. 2013;20:605-615. Wilt ... restless legs syndrome: a systematic review and meta-analysis. JAMA Internal Med. 2013;173:496-505.

  13. What Is Marfan Syndrome?

    MedlinePLUS

    ... on Marfan Syndrome? For More Information What Is Connective Tissue? Connective tissue supports many parts of your body. You can ... races and ethnic backgrounds. What Causes Marfan Syndrome? Connective tissue is made of many kinds of protein. One ...

  14. What Causes Cushing's Syndrome?

    MedlinePLUS

    ... Information Clinical Trials Resources and Publications What causes Cushing’s syndrome? Skip sharing on social media links Share this: ... uhs ), thyroid, or thymus How Tumors Can Cause Cushing’s Syndrome Normally, the pituitary gland in the brain controls ...

  15. Riley-Day syndrome

    MedlinePLUS

    Riley-Day syndrome is an inherited disorder that affects nerves throughout the body. ... Riley-Day syndrome is passed down through families (inherited). A person must inherit a copy of the defective gene ...

  16. Obesity Hypoventilation Syndrome

    MedlinePLUS

    ... Twitter. What Is Obesity Hypoventilation Syndrome? Obesity hypoventilation (HI-po-ven-tih-LA-shun) syndrome (OHS) is ... e-DE-mah), pulmonary hypertension (PULL-mun-ary HI-per-TEN-shun), cor pulmonale (pul-meh-NAL- ...

  17. Neonatal abstinence syndrome

    MedlinePLUS

    ... baby besides NAS. These may include: Birth defects Low birth weight Premature birth Small head circumference Sudden infant death syndrome (SIDS) Problems with development and behavior Neonatal abstinence syndrome can last from ...

  18. Guillain-Barré Syndrome

    MedlinePLUS

    ... knows what causes GBS, scientists do have some theories about the syndrome and why it surfaces in ... ON THIS TOPIC Why Should I Care About Germs? Strep Throat Chronic Fatigue Syndrome What's It Like ...

  19. Fragile X Syndrome.

    ERIC Educational Resources Information Center

    de la Cruz, Felix F.

    1985-01-01

    Physical, psychological, and cytogenic characteristics of individuals with the Fragile X syndrome are reviewed. Prospects for therapy with folic acid, prenatal diagnosis, phenotype of heterozygote for the marker X, and unresolved issues about the syndrome are discussed. (CL)

  20. Lennox-Gastaut Syndrome

    MedlinePLUS

    ... Lennox-Gastaut syndrome is a severe form of epilepsy. Seizures usually begin before 4 years of age. ... broad program of basic and clinical research on epilepsy including Lennox-Gastaut syndrome. These studies are aimed ...

  1. Restless Legs Syndrome

    MedlinePLUS

    ... What Is Restless Legs Syndrome? Restless legs syndrome (RLS) is a disorder that causes a strong urge ... urge and the unpleasant feelings. People who have RLS describe the unpleasant feelings as creeping, crawling, pulling, ...

  2. Restless Legs Syndrome

    MedlinePLUS

    ... What is Restless Legs Syndrome? Restless legs syndrome (RLS) is a neurological disorder characterized by unpleasant sensations ... may suggest a variety of medications to treat RLS, including dopaminergics, benzodiazepines (central nervous system depressants), opioids, ...

  3. Angelman syndrome (AS, MIM 105830)

    PubMed Central

    Van Buggenhout, Griet; Fryns, Jean-Pierre

    2009-01-01

    Angelman syndrome (AS) is a distinct neurogenetic syndrome, first described in 1965. The phenotype is well known in infancy and adulthood, but the clinical features may change with age. The main clinical characteristics include severe mental retardation, epileptic seizures and EEG abnormalilties, neurological problems and distinct facial dysmorphic features. Behavioural problems such as hyperactivity and sleeping problems are reported, although these patients present mostly a happy personality with periods of inappropriate laughter. Different underlying genetic mechanisms may cause AS, with deletion of chromosome 15 as the most frequent cause. Other genetic mechanisms such as paternal uniparental disomy, imprinting defect and mutation in the UBE3A gene are present in smaller groups of patients with AS. As the recurrence risk can be up to 50%, the clinical diagnosis of AS should be confirmed by laboratory tesing, and genetic counselling should be provided. Treatment of seizures, physical therapy or other intervention strategies are helpful to ameliorate the symptoms. PMID:19455185

  4. CONSTIPATION IN RETT SYNDROME

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Gastrointestinal problems occur frequently in girls with Rett syndrome. Constipation is a common problem in girls with Rett syndrome because of their neurological abnormalities. Research studies to better understand the abnormalities of large bowel function in our girls with Rett syndrome have not b...

  5. The Axenfeld syndrome and the Rieger syndrome.

    PubMed Central

    Fitch, N; Kaback, M

    1978-01-01

    A family is reported in which both the syndrome of Axenfeld and the eye malformations of the syndrome of Rieger occur, indicating that both may be expressions of the same gene. We also review the associated anomalies already reported, emphasise their high incidence, suggest that these are not accidental associations, and propose some possible explanations for the high incidence. Images PMID:416212

  6. Marfan's syndrome: a refractive challenge for optometrists.

    PubMed

    Sah, Raman Prasad; Paudel, Nabin; Shrestha, Jyoti Baba

    2013-11-01

    We present an interesting case of a child with Marfan's syndrome with ectopia lentis, who was followed for five years. The changes in refractive and visual findings of this child during this period are discussed. The importance of careful oculo-visual examination and possible management options in such children are highlighted. PMID:23452223

  7. A Longitudinal Study of Narrative Development in Children and Adolescents with Down Syndrome

    ERIC Educational Resources Information Center

    Cleave, Patricia; Bird, Elizabeth Kay-Raining; Czutrin, Rachael; Smith, Lindsey

    2012-01-01

    The present study examined narrative development in children and adolescents with Down syndrome longitudinally. Narratives were collected from 32 children and adolescents with Down syndrome three times over a 1-year period. Both micro- and macrolevel analyses were conducted. Significant growth over the 1-year period was seen in semantic complexity…

  8. Using encounters versus episodes in syndromic surveillance

    PubMed Central

    Jung, I.; Kulldorff, M.; Kleinman, K. P.; Yih, W. K.; Platt, R.

    2009-01-01

    Background Automated electronic medical records may be useful for syndromic surveillance to quickly detect infectious disease outbreaks. Some syndromic surveillance systems include every encounter in the analysis, whereas others exclude individuals' repeat encounters within the same syndrome occurring within a short period of time, with the rationale that these represent follow-up visits rather than new episodes of illness. Methods We evaluate the effect of keeping all encounters as compared with removing repeat encounters. Using the prospective space–time permutation scan statistic, we performed daily analyses on all encounters versus on episodes defined as encounters new within 2, 6 or 12 weeks. Data were taken from a Massachusetts Health Maintenance Organization (HMO) for the calendar year 1999 for four different syndromes. Results We found extensive disagreement in the number of signals detected: 70, 68, 21 and 15 signals when using all encounters versus 15–20, 3, 4–5 and 0 signals when using only new episodes for lower respiratory, lower gastrointestinal, upper gastrointestinal and neurologic syndromes, respectively. Conclusion Using all encounters in syndromic surveillance may not only create too many signals but may also miss some signals by masking the anomalies generated by actual episodes. However, it is also possible to miss signals when using episodes. PMID:19443438

  9. [Tic syndrome].

    PubMed

    Czapli?ski, Adam; Steck, Andreas J; Fuhr, Peter

    2002-01-01

    A tic is an involuntary, sudden, rapid, recurrent, nonrrhythmic, stereotyped, motor movement or vocalization. This paper reviews clinical, pathophysiological, epidemiological and treatment issues of tic disorders. The clinical presentation of tic disorders with simple and complex motor or vocal tics is reviewed in detail. The most common psychiatric comorbid conditions, such as personality disorder (PD), Obsessive-Compulsive Disorder (OCD), Self-Destructive Behavior (SDB) and Attention Deficit Hyperactivity Disorder (ADHD) are presented too. All forms of tics may be exacerbated by anger or stress, but they are usually markedly diminished during sleep. Premonitory feelings or "sensory experiences", which are distinct from the actual motor or phonic tics and precede the tics, occur in over 80% of tic-patients and in 95% of patients with Gilles de la Tourette Syndrome (GTS). The American Psychiatric Association recognizes three types of tic disorders on the basis of clinical criteria: Transient Tic Disorder, Chronic Motor or Vocal Tic Disorder and GTS. The diagnostic criteria for these types are described. According to epidemiological data, up to 10% of children have at least somewhere a transient tic disorder. The onset of tics, whether simple or multiple, occurs at approximately 7 years of age. The accepted prevalence figure for GTS is 0.05-3%. Although tics can appear as the result of brain injury, Huntington chorea or encephalitis, they are most commonly idiopathic. Genetic factors appear to be present in many but not in all cases of tic disorders. Autosomal dominant, sex-linked models or semirecessive-semidominant-oligogenic models have been considered. Based on the review of the literature we believe that tic disorders are related to altered neurotransmitter function within the CNS, especially that the functional abnormality is somehow related to dopaminergic mechanism. Several authors have recently investigated the possible role of autoimmune response to streptococcal infection in the pathogenesis of tics. The differential diagnosis of tics is reviewed in detail. Above all tics represent a social disability. The ability to tolerate tics varies greatly from one individual to another, and the need for treatment is better defined by the patient than by the physician. Mild cases do not need be treated. Ideally, management should be multidisciplinary and can range from educative to supportive means or to intricate pharmacological interventions. The major form of treatment of the motor or vocal symptoms continues to be based on high-potency "typical" neuroleptics (tiaprid, pimozide, haloperidol), which induce a wide range of potentially serious side effects. In everyday practice we prefer to start with an "atypical" neuroleptic drug--for example, olanzapin (5-10 mg/day), risperidone or clozapine. Other drugs, such as clonidin or pergolid are widely used but their efficiency is still questionable. SSRIs (sertaline, citalopram, fluoxetin, fluvoxamine) or other antidepressants (clomipramine) have been used in treatment of psychiatric comorbid conditions, too. Botulinum toxin injections have proved useful in tics, targeting at the symptoms of blepharospasm, in neck and facial muscles. PMID:12185806

  10. Monogenic Autoinflammatory Syndromes: State of the Art on Genetic, Clinical, and Therapeutic Issues

    PubMed Central

    Costa, Luisa; Atteno, Mariangela; Compagnone, Adele; Caso, Paolo; Frediani, Bruno; Galeazzi, Mauro; Punzi, Leonardo

    2013-01-01

    Monogenic autoinflammatory syndromes (MAISs) are caused by innate immune system dysregulation leading to aberrant inflammasome activation and episodes of fever and involvement of skin, serous membranes, eyes, joints, gastrointestinal tract, and nervous system, predominantly with a childhood onset. To date, there are twelve known MAISs: familial Mediterranean fever, tumor necrosis factor receptor-associated periodic syndrome, familial cold urticaria syndrome, Muckle-Wells syndrome, CINCA syndrome, mevalonate kinase deficiency, NLRP12-associated autoinflammatory disorder, Blau syndrome, early-onset sarcoidosis, PAPA syndrome, Majeed syndrome, and deficiency of the interleukin-1 receptor antagonist. Each of these conditions may manifest itself with more or less severe inflammatory symptoms of variable duration and frequency, associated with findings of increased inflammatory parameters in laboratory investigation. The purpose of this paper is to describe the main genetic, clinical, and therapeutic aspects of MAISs and their most recent classification with the ultimate goal of increasing awareness of autoinflammation among various internal medicine specialists. PMID:24282415

  11. Type VI Aplasia Cutis Congenita: Bart's Syndrome

    PubMed Central

    Kulal?, Ferit; Bas, Ahmet Yagmur; Kale, Yusuf; Celik, Istemi Han; Demirel, Nihal; Apayd?n, Sema

    2015-01-01

    Bart's syndrome is characterized by aplasia cutis congenita and epidermolysis bullosa. We present the case of a newborn male who developed blisters on the mucous membranes and the skin following congenital localized absence of skin. Bart's syndrome (BS) is diagnosed clinically based on the disorder's unique signs and symptoms but histologic evaluation of the skin can help to confirm the final diagnosis. The patient was managed conservatively with topical antibacterial ointment and wet gauze dressing. Periodic follow-up examinations showed complete healing. We emphasized that it is important to use relatively simple methods for optimal healing without the need for complex surgical interventions. PMID:26609453

  12. [Glaucoma in lens capsule pseudoexfoliation syndrome].

    PubMed

    Urban, R; Kulawik, E; Lebied?, J

    1992-01-01

    The authors observed 27 patients (39 eyes) with glaucoma in the course of the pseudoexfoliation of the lens capsule syndrome treated in the period of 1979-1989. In all the patients the corneo-scleral angle was open with a considerable amount of pigment; 30 eyes exhibited opacification of the lens. The conservative anti-glaucomatous treatment was successful in only 2 patients. Control of the IOP was attained in 5 eyes after a laser trabeculoplasty and in 23 eyes after the Elliot-Fronimopoulos goniotrepanation. Discussed was the lesion of the visual function occurring in the presented syndrome. PMID:1640678

  13. Auto inflammatory syndromes: Diagnosis and treatment.

    PubMed

    Stankovic, Katia; Grateau, Gilles

    2007-12-01

    Hereditary recurrent fevers are rare genetic diseases characterized by apparently spontaneous attacks of inflammation. They include familial Mediterranean fever (FMF); tumor necrosis factor (TNF) receptor periodic syndrome (TRAPS); hyperimmunoglobulinemia D syndrome (HIDS); and hereditary periodic fevers related to mutations in the CIAS1 (cold induced autoinflammatory syndrome 1) gene, such as Muckle-Wells syndrome, familial cold urticaria, and CINCA/NOMID (chronic infantile neurological cutaneous and articular/neonatal-onset multisystemic inflammatory disease). Musculoskeletal manifestations are common. They may occur as features of the acute inflammatory attacks or persist for longer periods. Among them, the most common include arthritis of the large and medium-sized joints in FMF and CINCA, arthralgia in HIDS, and myalgia or pseudo-fasciitis in TRAPS. The outcome is usually favorable, although joint destruction may develop in CINCA or at the hip in FMF. The recurrent bouts of fever and accompanying clinical manifestations suggest the diagnosis, which can be confirmed by genetic testing. Among differential diagnoses, infection should be considered routinely. The treatment of the inflammatory attacks is nonspecific. New pathophysiological insights have led to the development of promising maintenance treatments designed to reduce the number and severity of the inflammatory attacks and to diminish the risk of secondary amyloidosis. PMID:17950649

  14. Hospitalizations of Infants and Young Children with Down Syndrome: Evidence from Inpatient Person-Records from a Statewide Administrative Database

    ERIC Educational Resources Information Center

    So, S. A.; Urbano, R. C.; Hodapp, R. M.

    2007-01-01

    Background: Although individuals with Down syndrome are increasingly living into the adult years, infants and young children with the syndrome continue to be at increased risk for health problems. Using linked, statewide administrative hospital discharge records of all infants with Down syndrome born over a 3-year period, this study "follows…

  15. Long QT syndrome with craniofacial, digital, and neurologic features: Is it useful to distinguish between timothy syndrome types 1 and 2?

    PubMed

    Diep, Vinson; Seaver, Laurie H

    2015-11-01

    Timothy syndrome (TS) is a rare genetic condition that associates long QT syndrome, structural heart defects, dysmorphic facial features, syndactyly, seizures, developmental delay, and autism. Timothy syndrome type 1 is caused by a recurrent de novo mutation (p.Gly406Arg) in exon 8A of the L-type calcium channel gene CACNA1C. Timothy syndrome type 2 was originally reported to be associated with a more severe cardiac phenotype but without syndactyly. Timothy syndrome type 2 is caused by mutation in an alternatively spliced exon 8 of the CACNA1C gene. Other mutations in CACNA1C are also reported with long QT syndrome with and without syndromic features overlapping that described in Timothy syndrome. The purpose of this report is to describe the presentation, physical features and natural history of a 4-year-old girl with Timothy syndrome type 2 due to the recurrent p.Gly406Arg mutation in exon 8 of CACNA1C. She has similar facial features to Timothy syndrome type 1 without syndactyly. She is developmentally delayed without autism. She recently had her first episode of torsade de pointes associated with febrile illness and hypoglycemia. The findings in this case provide further information about the phenotype and natural history of CACNA1C exon 8 mutation and together with previously reported cases of Timothy syndrome question whether the clinical and molecular distinction between Timothy syndromes types 1 and 2 remains clinically useful. © 2015 Wiley Periodicals, Inc. PMID:26227324

  16. Basal cell nevus syndrome or Gorlin syndrome.

    PubMed

    Thalakoti, Srikanth; Geller, Thomas

    2015-01-01

    Basal cell nevus syndrome (BCNS) or Gorlin syndrome is a rare neurocutaneous syndrome sometimes known as the fifth phacomatosis, inherited in autosomal dominant fashion with complete penetrance and variable expressivity. Gorlin syndrome is characterized by development of multiple basal cell carcinomas (BCCs), jaw cysts, palmar or plantar pits, calcification of falx cerebri, various developmental skeletal abnormalities such as bifid rib, hemi- or bifid vertebra and predisposition to the development of various tumors. BCNS is caused by a mutation in the PTCH1 gene localized to 9q22.3. Its estimated prevalence varies between 1/55600 and 1/256000 with an equal male to female ratio. The medulloblastoma variant seen in Gorlin syndrome patients is of the desmoplastic type, characteristically presenting during the first 3 years of life. Therefore, children with desmoplastic medulloblastoma should be carefully screened for other features of BCNS. Radiation therapy for desmoplastic medulloblastoma should be avoided in BCNS patients as it may induce development of invasive BCCs and other tumors in the skin area exposed to radiation. This syndrome is a multisystem disorder so involvement of multiple specialists with a multimodal approach to detect and treat various manifestations at early stages will reduce the long-term sequelae and severity of the condition. Life expectancy is not significantly altered but morbidity from complications and cosmetic scarring can be substantial. PMID:26564075

  17. Metabolic Syndrome and Migraine

    PubMed Central

    Sachdev, Amit; Marmura, Michael J.

    2012-01-01

    Migraine and metabolic syndrome are highly prevalent and costly conditions. The two conditions coexist, but it is unclear what relationship may exist between the two processes. Metabolic syndrome involves a number of findings, including insulin resistance, systemic hypertension, obesity, a proinflammatory state, and a prothrombotic state. Only one study addresses migraine in metabolic syndrome, finding significant differences in the presentation of metabolic syndrome in migraineurs. However, controversy exists regarding the contribution of each individual risk factor to migraine pathogenesis and prevalence. It is unclear what treatment implications, if any, exist as a result of the concomitant diagnosis of migraine and metabolic syndrome. The cornerstone of migraine and metabolic syndrome treatments is prevention, relying heavily on diet modification, sleep hygiene, medication use, and exercise. PMID:23181051

  18. Hamartomatous polyposis syndromes

    PubMed Central

    2013-01-01

    Hamartomas are tumour-like malformations, consisting of disorganized normal tissues, typical of the site of tumour manifestation. Familial manifestation of hamartomatous polyps can be noted in juvenile polyposis syndrome (JPS), Peutz-Jeghers’ syndrome (PJS), hereditary mixed polyposis syndrome (HMPS) and PTEN hamartoma tumour syndrome (PHTS). All the aforementioned syndromes are inherited in an autosomal dominant manner and form a rather heterogenous group both in respect to the number and localization of polyps and the risk of cancer development in the alimentary tract and other organs. Individual syndromes of hamartomatous polyposis frequently manifest similar symptoms, particularly during the early stage of the diseases when in several cases their clinical pictures do not allow for differential diagnosis. The correct diagnosis of the disease using molecular methods allows treatment to be implemented earlier and therefore more effectively since it is followed by a strict monitoring of organs that manifest a predisposition for neoplastic transformation. PMID:23724922

  19. SAPHO syndrome associated spondylitis

    PubMed Central

    Tanaka, Masato; Nakanishi, Kazuo; Misawa, Haruo; Sugimoto, Yoshihisa; Takahata, Tomohiro; Nakahara, Hiroyuki; Nakahara, Shinnosuke; Ozaki, Toshifumi

    2008-01-01

    The concept of synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome has been well clarified, after Chamot et al. suggested this peculiar disorder in 1987. The most commonly affected site in SAPHO syndrome is the anterior chest, followed by the spine. However, the clinical course and taxonomic concept of SAPHO spinal lesions are poorly understood. This study was performed to analyze: (1) the detailed clinical course of spinal lesions in SAPHO syndrome, and (2) the relationship between SAPHO syndrome with spinal lesions and seronegative spondyloarthropathy. Thirteen patients with spondylitis in SAPHO syndrome were analyzed. The features of spinal lesions were a chronic onset with a slight inflammatory reaction, and slowly progressing non-marginal syndesmophytes at multi spinal levels, besides the coexistence of specific skin lesions. SAPHO syndrome, especially spinal lesions related to palmoplantar pustulosis, can be recognized as a subtype of seronegative spondyloarthropathy. PMID:18642032

  20. Genetics Home Reference: Roberts syndrome

    MedlinePLUS

    ... PubMed Recent literature OMIM Genetic disorder catalog Conditions > Roberts syndrome On this page: Description Genetic changes Inheritance ... names Glossary definitions Reviewed January 2009 What is Roberts syndrome? Roberts syndrome is a genetic disorder characterized ...

  1. Genetics Home Reference: Pfeiffer syndrome

    MedlinePLUS

    ... syndrome On this page: Description Genetic changes Inheritance Diagnosis Additional information Other names Glossary definitions Reviewed February 2008 What is Pfeiffer syndrome? Pfeiffer syndrome is a genetic disorder characterized by the premature fusion of certain skull ...

  2. Genetics Home Reference: Silver syndrome

    MedlinePLUS

    ... ClinicalTrials.gov Research studies PubMed Recent literature Conditions > Silver syndrome On this page: Description Genetic changes Inheritance ... names Glossary definitions Reviewed February 2012 What is Silver syndrome? Silver syndrome belongs to a group of ...

  3. Genetics Home Reference: Cantú syndrome

    MedlinePLUS

    ... a rare condition characterized by excess hair growth (hypertrichosis), a distinctive facial appearance, heart defects, and several ... do people use for Cantú syndrome? Cantu syndrome hypertrichosis-osteochondrodysplasia-cardiomegaly syndrome hypertrichotic osteochondrodysplasia For more information ...

  4. First Trimester Down Syndrome Screen

    MedlinePLUS

    ... Home Visit Global Sites Search Help? First Trimester Down Syndrome Screen Share this page: Was this page helpful? ... is carrying has a chromosomal abnormality such as Down syndrome (trisomy 21) or Edwards syndrome (trisomy 18) . The ...

  5. Alzheimer's Disease and Down Syndrome

    MedlinePLUS

    ... Down Syndrome Managing Behavior Sexuality Sexuality & Down Syndrome Social and Sexual Education Recreation & Friendship Education Education & Down Syndrome Schooling from Preschool to Age 21 Implementing Inclusion College & Postsecondary Options Looking for Postsecondary Education O' ...

  6. Genetics Home Reference: Jacobsen syndrome

    MedlinePLUS

    ... 11, Jacobsen syndrome is also known as 11q terminal deletion disorder. The signs and symptoms of Jacobsen ... disorder 11q deletion syndrome 11q- deletion syndrome 11q terminal deletion disorder Jacobsen thrombocytopenia For more information about ...

  7. Klippel-Trenaunay Syndrome (KTS)

    MedlinePLUS

    ... as well as in the brain is Sturge-Weber syndrome. These individuals may experience seizures and mental ... features of the Klippel-Trenaunay syndrome and Sturge-Weber syndrome coincide. Another overlapping condition is the Parkes- ...

  8. Genetics Home Reference: Apert syndrome

    MedlinePLUS

    ... PubMed Recent literature OMIM Genetic disorder catalog Conditions > Apert syndrome On this page: Description Genetic changes Inheritance Diagnosis ... names Glossary definitions Reviewed February 2008 What is Apert syndrome? Apert syndrome is a genetic disorder characterized by ...

  9. Genetics Home Reference: Crouzon syndrome

    MedlinePLUS

    ... People with Crouzon syndrome are usually of normal intelligence. How common is Crouzon syndrome? Crouzon syndrome is ... Medicine , National Institutes of Health Department of Health & Human Services , USA.gov Freedom of Information Act Copyright ...

  10. Organic brain syndrome

    MedlinePLUS

    OBS; Organic mental disorder (OMS); Chronic organic brain syndrome ... Listed below are disorders associated with OBS. Brain injury caused by ... the brain ( subarachnoid hemorrhage ) Blood clot inside the ...

  11. Locked-in syndrome.

    PubMed

    Cardwell, Michael S

    2013-02-01

    Locked-in syndrome is a rare neuropsychological disorder. Its primary features are quadriplegia and paralysis of the cranial nerves except for those responsible for vertical eye movements. The differential diagnosis includes persistent vegetative state, brain death, minimally conscious states, C3 transection of the spinal cord, and conversion locked-in syndrome. Etiologies of locked-in syndrome include hemorrhagic and thrombotic events, tumors affecting the ventral pons, infectious agents, iatrogenic causes, trauma, metabolic abnormalities, and other miscellaneous causes. The clinical manifestations, differential diagnosis, neuropsychological assessment, rehabilitation, and prognosis of patients with locked-in syndrome are discussed. PMID:23378122

  12. Waterhouse-Friderichsen syndrome

    MedlinePLUS

    ... severe infection with meningococcus bacteria or other severe infection from bacteria, such as: Group B streptococcus Pseudomonas aeruginosa S. pneumoniae Staphylococcus aureus Rarely, Waterhouse-Friderichsen syndrome ...

  13. Palmaris brevis spasm syndrome.

    PubMed Central

    Serratrice, G; Azulay, J P; Serratrice, J; Pouget, J

    1995-01-01

    Palmaris brevis spasm syndrome is a rare and benign condition of localised muscular hyperactivity. In five men, the hypothenar eminence underwent spontaneous, irregular, tonic contractions of the palmaris brevis muscle. An EMG showed spontaneous high frequency discharges of normal motor units, without evidence of neuropathy or of nerve compression. This syndrome resembles other restricted muscle hyperactivity syndromes although there are some differences. Curiously, the palmaris brevis muscle is not under voluntary control. The mechanism of the syndrome could be an ephaptic transmission possibly secondary to the transient and repeated stretching of the ulnar nerve superficial branch. In one patient a root compression was the probable origin. Images PMID:7629536

  14. Sick-building syndrome.

    PubMed Central

    Stolwijk, J A

    1991-01-01

    The sick-building syndrome (SBS) is defined as the occurrence of an excessive number of subjective complaints by the occupants of a building. These complaints include headache, irritation of the eyes, nose, and throat, lethargy, inability to concentrate, objectionable odors, and less frequently, nausea, dizziness, chest tightness, etc. These complaints will always be reported by a fraction of the occupants of any building if a questionnaire is administered that asks the respondent to recall any subjective symptoms they remember having had in the last 2 weeks or or over some period of time. It is often considered that SBS symptom reports have a minimum prevalence of about 15 to 20% for a 2-week recall period. SBS symptoms reported by 30% or more of occupants are indicative of conditions in the building environment that warrant attention. It is not often that a clear, single cause is responsible for the excess symptom reports. The following factors, often in combinations, are seen to contribute to SBS: outdoor air supply that is inadequate, ventilation distribution or effectiveness that is inadequate, the presence of temporary or long-term sources of contaminants such as tobacco smoke, adhesives, composite materials such as chipboard, and the growth of microorganisms in the HVAC equipment or in carpets or other furnishings. Depending on which causes contribute, the condition may be intermittent or even temporary. Psychosocial factors such as labor-management relations and satisfaction or dissatisfaction with other factors in the work environment can have a profound influence on the level of response of the occupants to their environment. Although hard data are difficult to collect, it is likely that productivity in the office environment is sensitive to conditions causing SBS. PMID:1821387

  15. CANDLE SYNDROME: Orodfacial manifestations and dental implications.

    PubMed

    Roberts, T; Stephen, L; Scott, C; di Pasquale, T; Naser-Eldin, A; Chetty, M; Shaik, S; Lewandowski, L; Beighton, P

    2015-01-01

    A South African girl with CANDLE Syndrome is reported with emphasis on the orodental features and dental management. Clinical manifestations included short stature, wasting of the soft tissue of the arms and legs, erythematous skin eruptions and a prominent abdomen due to hepatosplenomegaly. Generalized microdontia, confirmed by tooth measurement and osteopenia of her jaws, confirmed by digitalized radiography, were previously undescribed syndromic components. Intellectual impairment posed problems during dental intervention. The carious dental lesions and poor oral hygiene were treated conservatively under local anaesthetic. Prophylactic antibiotics were administered an hour before all procedures.Due to the nature of her general condition, invasive dental procedures were minimal. Regular follow-ups were scheduled at six monthly intervals. During this period, her overall oral health status had improved markedly.The CANDLE syndrome is a rare condition with grave complications including immunosuppression and diabetes mellitus. As with many genetic disorders, the dental manifestations are often overshadowed by other more conspicuous and complex syndromic features. Recognition of both the clinical and oral changes that occur in the CANDLE syndrome facilitates accurate diagnosis and appropriate dental management of this potentially lethal condition. PMID:26711936

  16. Neuroimaging and clinical characterization of Sotos syndrome.

    PubMed

    Türkmen, S; ?ahin, S; Koçer, N; Peters, H; Mundlos, S; Tüysüz, B

    2015-01-01

    Sotos syndrome is a well-known overgrowth syndrome characterized by excessive growth during childhood, macrocephaly, distinctive facial appearance and learning disability. This disorder is caused by mutations or deletions in NSD1 gene. The aim of this study is to examine the relationship between the neuroimaging and clinical features of children with Sotos syndrome. Six Turkish children with Sotos syndrome were followed up about 3-7 years. The diagnosis was confirmed with molecular genetic analysis. We identified the pathogenic NSD1 mutation including three novel in all patients. All the patients had a characteristic facial gestalt of Sotos syndrome consisting of triangular face with prominent forehead, frontoparietal sparseness of hair and small nose. However, the degree of psychomotor and intellectual development was variable. Severe learning defect and speech delay were remarkable in two patients. The neuroimaging analysis showed abnormalities in four of six patients including bilateral large ventricles, thinning of the corpus callosum and persistent cavum septum pellucidum et vergae. Typical craniofacial appearance is the primary finding for the diagnosis of the disease even in the infantile period. However, the degree of psychomotor and intellectual development is very variable and does not correlate with the neuroimaging findings. PMID:26043501

  17. Irritable Bowel Syndrome.

    PubMed

    Wald

    1999-02-01

    I believe there are four essential elements in the management of patients with irritable bowel syndrome (IBS): to establish a good physician-patient relationship; to educate patients about their condition; to emphasize the excellent prognosis and benign nature of the illness; and to employ therapeutic interventions centering on dietary modifications, pharmacotherapy, and behavioral strategies tailored to the individual. Initially, I establish the diagnosis, exclude organic causes, educate patients about the disease, establish realistic expectations and consistent limits, and involve patients in disease management. I find it critical to determine why the patient is seeking assistance (eg, cancer phobia, disability, interpersonal distress, or exacerbation of symptoms). Most patients can be treated by their primary care physician. However, specialty consultations may be needed to reinforce management strategies, perform additional diagnostic tests, or institute specialized treatment. Psychological co-morbidities do not cause symptoms but do affect how patients respond to them and influence health care-seeking behavior. I find that these issues are best explored over a series of visits when the physician-patient relationship has been established. It can be helpful to have patients fill out a self-administered test to identify psychological co-morbidities. I often use these tests as a basis for extended inquiries into this area, resulting in the initiation of appropriate therapies. I encourage patients to keep a 2-week diary of food intake and gastrointestinal symptoms. In this way, patients become actively involved in management of their disease, and I may be able to obtain information from the diary that will be valuable in making treatment decisions. I do not believe that diagnostic studies for food intolerances are cost-effective or particularly helpful; however, exclusion diets may be beneficial. I introduce fiber supplements gradually and monitor them for tolerance and palatability. Synthetic fiber is often better-tolerated than natural fiber, but must be individualized. In my experience, excessive fiber supplementation often is counterproductive, as abdominal cramps and bloating may worsen. Antidiarrheal agents are very effective when used correctly, preferably in divided doses. I use them in patients in anticipation of diarrhea and especially in those who fear symptoms when engaged in activities outside the home. I encourage patients to make decisions as to when and how much to use. However, almost always, a morning dose before breakfast is used (loperamide, 2 to 6 mg) and, perhaps again later in the day when symptoms of diarrhea are prominent. I prefer antispasmodics to be used intermittently in response to periods of increased abdominal pain, cramps, and urgency. For patients with daily symptoms, especially after meals, agents such as dicyclomine before meals are useful. For patients with infrequent but severe episodes of unpredictable pain, sublingual hyoscyamine often produces rapid relief and instills confidence. In general, I recommend that oral antispasmodics be used for a limited period of time rather than indefinitely, and generally for periods of time when symptoms are prominent. For chronic visceral pain syndromes, I recommend small doses of tricyclic antidepressants. These agents are especially effective in diarrhea-predominant patients with disturbed sleep patterns but may be unacceptable to patients with constipation. I educate patients that side effects occur early and benefits may not be apparent for 3 to 4 weeks. I consider using SSRIs in low doses in patients with constipation-predominant IBS; cisapride, 10 to 20 mg three times per day, also may be beneficial. When taken with drugs that inhibit cytochrome P450, cisapride has been associated with serious cardiac arrhythmias caused by QT prolongation, including ventricular arrhythmias and torsades de pointes. These drugs include the azole fungicides; erythromycin, clarithromycin, and troleandomycin; some antidepressants; HIV protease inhibitors; and ot

  18. Fluctuating hyper-hypocortisolaemia: a variant of Cushing's syndrome.

    PubMed

    Liebowitz, G; White, A; Hadani, M; Gross, D J

    1997-06-01

    We present a patient with severe Cushing's syndrome secondary to an invasive pituitary tumour. Cortisol secretion fluctuated between severe hypercortisolaemia associated with features of Cushing's syndrome to recurrent symptomatic hypocortisolaemia. Normal ACTH precursors to ACTH ratio during the various stages of cortisol secretion indicated that periodic decreased prohormone processing did not contribute to the unique presentation in the patient. Thus, the the extreme fluctuations of plasma cortisol levels are most probably due to unexplained erratic changes of ACTH secretion. PMID:9274708

  19. [Endovascular treatment of haemorrhagic complication of HELLP syndrome].

    PubMed

    Garcarek, Jerzy; Kurcz, Jacek; Guzi?ski, Maciej; Orchowska-Jedrzejewska, Agnieszka; Janczak, Dariusz

    2012-01-01

    HELLP syndrome, which consists of haemolytic anaemia, elevated liver enzymes and thrombocytopenia, typically occurs in women in perinatal period. Rare life-threatening complications of this syndrome include haemorrhages, in particular these originating from hepatic artery branches for they usually result in subcapsular hematoma formation. The rupture of hepatic capsule secondary to hepatomegaly results in intraperitoneal haemorrhage. In case of suspicion of HELLP syndrome complicated by hepatic haemorrhage it is crucial to perform imaging modalities as emergency, first of all US and CT of abdomen and pelvis. Selective embolization of hepatic artery branches seems to be a valuable, alternative or complementary to surgery method of stopping the bleeding. PMID:23276043

  20. A Catalog of Genetic Syndromes in Childhood Cancer.

    PubMed

    Zimmerman, Rheanne; Schimmenti, Lisa; Spector, Logan

    2015-12-01

    Genetic syndromes and pediatric cancers are rare, so instances of co-occurrence raise the question of whether the two conditions may be etiologically linked. Clear examples of causal association can be found in the cancer predisposition syndromes. This report contains the results of a systematic literature search using Ovid Medline for co-occurrence of genetic syndromes with 23 types of pediatric cancer. The results reflect known associations as well as many reports of infrequently observed co-occurrences. This compilation may suggest previously overlooked patterns, and the information could be used to identify gene pathways critical in the development of childhood cancers. Pediatr Blood Cancer © 2015 Wiley Periodicals, Inc. PMID:26312571

  1. [Advances of studies on acupuncture and moxibustion for perimenopausal syndrome].

    PubMed

    Chen, Yin-ying; Ma, Liang-xiao; Zhu, Jiang

    2010-03-01

    The literatures are retrieved in the Chinese science and technology periodical database of VIP (1989-2009). The clinical application and its mechanism of perimenopausal syndrome treated with acupuncture and moxibustion are summarized. The summarized literatures indicate that body acupuncture, auricular acupuncture, acupoint catgut embedding and combined therapy are used in acupuncture and moxibustion for treatment of perimeno-pausal syndrome. The research of mechanism includes regulation of nerve-endocrine-immunity net, regulation of free radical metabolism, regulation of blood lipid and bone metabolism. The literatures suggest that acupuncture and moxibustion has definite therapeutic effect on perimenopausal syndrome with advantages of convenience, lower cost and safety. PMID:20496744

  2. Syndrome in question*

    PubMed Central

    Peruzzo, Juliano; Nazar, Fernanda Luca; Tubone, Mariana Quirino; Escobar, Gabriela Fortes; Cestari, Tania Ferreira

    2015-01-01

    Waardenburg syndrome is an inherited disease characterized by sensorineural hearing loss, pigmentation changes and minor facial malformations. It has four clinical variants. We report the case of a girl who, like her mother, was affected by this syndrome. The diagnosis was made after detection and treatment of deafness. PMID:26375234

  3. Acute Coronary Syndrome

    MedlinePLUS

    ... Take note of these common signs of an acute coronary syndrome: Chest pain or discomfort, which may involve pressure, tightness ... 9-1-1. They’re not being alarmist.” Chest pain caused by acute coronary syndromes can come on suddenly, as is the case ...

  4. Fetal alcohol syndrome

    MedlinePLUS

    Fetal alcohol syndrome is growth, mental, and physical problems that may occur in a baby when a mother drinks ... A baby with fetal alcohol syndrome may have the following symptoms: Poor growth while the baby is in the womb and after birth Decreased muscle ...

  5. Macrocytosis in Down Syndrome.

    ERIC Educational Resources Information Center

    Wachtel, Tom J.; Pueschel, Siegfried M.

    1991-01-01

    The study, with 61 Down Syndrome (trisomy 21) adult subjects, found that macrocytosis in the absence of anemia was virtually universal and erythrocyte survival half-time was shorter than normal. Findings suggest that erythrocytes have a younger mean age in persons with Down Syndrome, possibly indicating an accelerated aging process of red blood…

  6. Unmasking Diogenes Syndrome

    PubMed Central

    Nayak, Kashinath; Gopinath, Hima; Kini, Hema; Kumar, Pramod

    2015-01-01

    Diogenes syndrome is characterized by extreme self-neglect, social withdrawal, and poor personal and domestic hygiene. We report a case of Diogenes syndrome presenting with dermatitis passivata. An unusual “mask” of dirt resembling a carapace, onset of neglect after awareness of a breast lump and resumption of personal grooming and social activities after removal of the lump and counseling were seen. PMID:26120158

  7. Irritable bowel syndrome - aftercare

    MedlinePLUS

    Irritable bowel syndrome (IBS) may be a lifelong condition. You may be suffering from cramping and loose stools, ... Ferri FF. Irritable bowel syndrome. In: Ferri FF, ed. Ferri's Clinical Advisor 2015 . Philadelphia, PA: Elsevier Mosby; 2015:pages 669-70. What ...

  8. The sick building syndrome

    PubMed Central

    Joshi, Sumedha M.

    2008-01-01

    The sick building syndrome comprises of various nonspecific symptoms that occur in the occupants of a building. This feeling of ill health increases sickness absenteeism and causes a decrease in productivity of the workers. As this syndrome is increasingly becoming a major occupational hazard, the cause, management and prevention of this condition have been discussed in this article. PMID:20040980

  9. Peripheral nerve hyperexcitability syndromes.

    PubMed

    Küçükali, Cem Ismail; Kürtüncü, Murat; Akçay, Halil ?brahim; Tüzün, Erdem; Öge, Ali Emre

    2015-01-01

    Peripheral nerve hyperexcitability (PNH) syndromes can be subclassified as primary and secondary. The main primary PNH syndromes are neuromyotonia, cramp-fasciculation syndrome (CFS), and Morvan's syndrome, which cause widespread symptoms and signs without the association of an evident peripheral nerve disease. Their major symptoms are muscle twitching and stiffness, which differ only in severity between neuromyotonia and CFS. Cramps, pseudomyotonia, hyperhidrosis, and some other autonomic abnormalities, as well as mild positive sensory phenomena, can be seen in several patients. Symptoms reflecting the involvement of the central nervous system occur in Morvan's syndrome. Secondary PNH syndromes are generally seen in patients with focal or diffuse diseases affecting the peripheral nervous system. The PNH-related symptoms and signs are generally found incidentally during clinical or electrodiagnostic examinations. The electrophysiological findings that are very useful in the diagnosis of PNH are myokymic and neuromyotonic discharges in needle electromyography along with some additional indicators of increased nerve fiber excitability. Based on clinicopathological and etiological associations, PNH syndromes can also be classified as immune mediated, genetic, and those caused by other miscellaneous factors. There has been an increasing awareness on the role of voltage-gated potassium channel complex autoimmunity in primary PNH pathogenesis. Then again, a long list of toxic compounds and genetic factors has also been implicated in development of PNH. The management of primary PNH syndromes comprises symptomatic treatment with anticonvulsant drugs, immune modulation if necessary, and treatment of possible associated dysimmune and/or malignant conditions. PMID:25719304

  10. Epidemiology of Down Syndrome

    ERIC Educational Resources Information Center

    Sherman, Stephanie L.; Allen, Emily G.; Bean, Lora H.; Freeman, Sallie B.

    2007-01-01

    Down syndrome (DS) is the most commonly identified genetic form of mental retardation and the leading cause of specific birth defects and medical conditions. Traditional epidemiological studies to determine the prevalence, cause, and clinical significance of the syndrome have been conducted over the last 100 years. DS has been estimated to occur…

  11. Managing Sjogren's Syndrome.

    PubMed

    Grossman, Sheila; Tagliavini, Lynda B

    2015-10-01

    There are approximately 4 million Americans diagnosed with Sjogren's Syndrome. This article discusses the epidemiology, pathophysiology, diagnostics, and implications for home care clinicians who may encounter patients with this syndrome. Chronic pain is discussed as well as interventions to manage symptoms such fatigue, dry eyes mouth and skin. PMID:26418108

  12. Atraumatic painless compartment syndrome.

    PubMed

    Blanchard, Scott; Griffin, Gregory D; Simon, Erin L

    2013-12-01

    Acute compartment syndrome is a time-sensitive diagnosis and surgical emergency because it poses a threat to life and the limbs. It is defined by Matsen et al (Surg Gynecol Obstet. 1978;147(6):943–949) as "a condition in which increased pressure within a limited space compromises the circulation and function of the tissues within that space." The most common cause of compartment syndrome is traumatic injury. A variety of other conditions such as vascular injuries, bleeding disorders, thrombosis, fasciitis, gas gangrene, rhabdomyolysis, prolonged limb compression, cellulitis, and nephrotic syndrome may also cause compartment syndrome. Patients who are elderly, have preexisting nerve damage, or have psychopathology may have an atypical presentation. This case highlights the first report of a 75-year-old woman who developed painless bilateral compartment syndrome in the absence of traumatic injury. PMID:24041642

  13. Craniosynostosis in Alagille syndrome.

    PubMed

    Kamath, Binita M; Stolle, Catherine; Bason, Lynn; Colliton, Raymond P; Piccoli, David A; Spinner, Nancy B; Krantz, Ian D

    2002-10-01

    Alagille syndrome is a multisystem developmental disorder with primary involvement of the liver, heart, skeleton, eyes and facial structures, and demonstrates highly variable expressivity with respect to all of the involved systems. Alagille syndrome is caused by mutations in the Jagged1 gene. Jagged1 is a ligand in the Notch signaling pathway that has been shown to regulate early cell fate determination. Mutations in Jagged1 have been identified in approximately 80% of patients with Alagille syndrome. We have recently identified two patients with mutation proven Alagille syndrome who also had unilateral coronal craniosynostosis. Both individuals were screened for mutations in fibroblast growth factor receptor 1, 2, 3 and TWIST genes, all associated with various types of craniosynostosis and no mutations were identified. The finding of a conserved form of craniosynostosis in two unrelated patients with Alagille syndrome and mutations in Jagged1 may indicate that Jagged1 plays a role in cranial suture formation. PMID:12244552

  14. [Schizophrenia or Asperger syndrome?].

    PubMed

    Da Fonseca, David; Viellard, Marine; Fakra, Eric; Bastard-Rosset, Delphine; Deruelle, Christine; Poinso, François

    2008-09-01

    Patients with Asperger syndrome are often diagnosed late or are wrongly considered to have schizophrenia. Misdiagnosing Asperger syndrome creates serious problems by preventing effective therapy. Several clinical signs described in Asperger syndrome could also be considered as clinical signs of schizophrenia, including impaired social interactions, disabilities in communication, restricted interests, and delusions of persecution. A number of clinical features may facilitate the differential diagnosis: younger age at onset, family history of pervasive developmental disorder, recurring conversations on the same topic, pragmatic aspects of language use, oddities of intonation and pitch, lack of imagination, and incomprehension of social rules are more characteristic of Asperger syndrome. Accurate distinction between Asperger syndrome and schizophrenia would make it possible to offer more treatment appropriate to the patient's functioning. PMID:18417316

  15. Beckwith-Wiedemann syndrome with overlapping Perlman syndrome manifestation.

    PubMed

    Ferianec, Vladimír; Bartova, Michaela

    2014-10-01

    Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome known as exomphalos-macroglossia - gigantism syndrome. Prognosis is good, prenatal diagnosis is important for pregnancy management but might be difficult due to clinical overlap with other syndromes. Perlman syndrome is an overgrowth syndrome with high perinatal mortality, most frequent antenatal findings include polyhydramnios, macrosomia, visceromegaly, nephromegaly and foetal ascites. Authors present a case of prenatally diagnosed BWS with severe ascites as first antenatal finding and lethal course, signs more typical of Perlman syndrome. This combination of clinical signs has not been published yet and may contribute to specification of possible prenatal manifestation of BWS. PMID:24215131

  16. Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis Syndrome (PFAPA)

    MedlinePLUS

    ... Walk Test (SMWT) Arthritis Impact Measurement Scales (AIMS) Evidence Based Practice (EBP) Fibromyalgia Impact Questionnaire (FIQ) Fracture Risk ... Investigators Resources for Doctoral Students/Post-Doctoral Fellows Evidence-Based Practice for Academic Researchers Responsible Data Management in ...

  17. Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis Syndrome (PFAPA)

    MedlinePLUS

    ... by the American College of Rheumatology Communications and Marketing Committee. This information is provided for general education ... Lists Supporters About Us Leadership Careers at ACR Social Media Newsroom Annual Reports & Financial Statements Policies & Guidelines ...

  18. Periodic Limb Movement Disorder and Restless Legs Syndrome

    MedlinePLUS

    ... Version Medical Topics Blood Disorders Bone, Joint, and Muscle Disorders Brain, Spinal Cord, and Nerve Disorders Cancer Children's ... students Medical Topics Blood Disorders Bone, Joint, and Muscle Disorders Brain, Spinal Cord, and Nerve Disorders Cancer Children's ...

  19. The Source for Syndromes 2.

    ERIC Educational Resources Information Center

    Richard, Gail J.; Hoge, Debra Reichert

    Designed for practicing speech-language pathologists, this book discusses different lesser-known syndrome disabilities, pertinent speech-language characteristics, and goals and strategies to begin intervention efforts at a preschool level. Chapters address: (1) Apert syndrome; (2) Beckwith-Wiedemann syndrome; (3) CHARGE syndrome; (4) Cri-du-Chat…

  20. Thyroid Hormone Receptors Predict Prognosis in BRCA1 Associated Breast Cancer in Opposing Ways

    PubMed Central

    Heublein, Sabine; Mayr, Doris; Meindl, Alfons; Angele, Martin; Gallwas, Julia; Jeschke, Udo; Ditsch, Nina

    2015-01-01

    Since BRCA1 associated breast cancers are frequently classified as hormone receptor negative or even triple negative, the application of endocrine therapies is rather limited in these patients. Like hormone receptors that bind to estrogen or progesterone, thyroid hormone receptors (TRs) are members of the nuclear hormone receptor superfamily. TRs might be interesting biomarkers - especially in the absence of classical hormone receptors. The current study aimed to investigate whether TRs may be specifically expressed in BRCA1 associated cancer cases and whether they are of prognostic significance in these patients as compared to sporadic breast cancer cases. This study analyzed TR? and TR? immunopositivity in BRCA1 associated (n = 38) and sporadic breast cancer (n = 86). Further, TRs were studied in MCF7 (BRCA1 wildtype) and HCC3153 (BRCA1 mutated) cells. TR? positivity rate was significantly higher in BRCA1 associated as compared to sporadic breast cancers (p = 0.001). The latter observation remained to be significant when cases that had been matched for clinicopathological criteria were compared (p = 0.037). Regarding BRCA1 associated breast cancer cases TR? positivity turned out to be a positive prognostic factor for five-year (p = 0.007) and overall survival (p = 0.026) while TR? positivity predicted reduced five-year survival (p = 0.030). Activation of TR? resulted in down-modulation of CTNNB1 while TR? inhibition reduced cell viability in HCC3153. However, only BRCA1 wildtype MCF7 cells were capable of rapidly degrading TR?1 in response to T3 stimulation. Significantly, this study identified TR? to be up-regulated in BRCA1 associated breast cancer and revealed TRs to be associated with patients’ prognosis. TRs were also found to be expressed in triple negative BRCA1 associated breast cancer. Further studies need to be done in order to evaluate whether TRs may become interesting targets of endocrine therapeutic approaches, especially when tumors are triple-negative. PMID:26029931

  1. Aflibercept in Treating Patients With Myelodysplastic Syndromes

    ClinicalTrials.gov

    2015-01-07

    Atypical Chronic Myeloid Leukemia, BCR-ABL1 Negative; Chronic Myelomonocytic Leukemia; de Novo Myelodysplastic Syndromes; Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable; Previously Treated Myelodysplastic Syndromes; Secondary Myelodysplastic Syndromes

  2. [Painful shoulder syndrome].

    PubMed

    Jaji?, Zrinka

    2003-01-01

    Painful shoulder syndrome was described by S.E. Duplay 1872. showing the patient with pain and stiffness of the shoulder after trauma. Codman et. al. at the beginning of 20th century expanded the syndrome on several causes of shoulder pain. Syndrome is characterized by pain and limitation of joint movements. One of the most common nontraumatic causes of shoulder pain is periarticular disorder. The potential sources of local or referred pain may be muscle, tendon, bursa or neurovascular structures. Secondary referral pain to the shoulder may be due to coronary artery disease, hepatic or splenic disease. PMID:15098371

  3. Hypereosinophilic syndrome in children.

    PubMed

    van Grotel, M; de Hoog, M; de Krijger, R R; Beverloo, H B; van den Heuvel-Eibrink, M M

    2012-10-01

    Recently, according to the Hypereosinophilic Diseases Working Group of the International Eosinophil Society, six variants of hypereosinophilic syndrome have been proposed, i.e. (1) myeloproliferative, (2) lymphoproliferative, (3) idiopathic/undefined, (4) overlapping, (5) associated and (6) familial variant. Hypereosinophilic syndrome is a rare disorder in children and can occur at any age during childhood. Corticosteroids are the treatment of choice, whereas other treatment options are hydroxyurea, IFN?, imatinib, vincristine, mepolizumab. We present a fulminant fatal case of hypereosinophilic syndrome in a teenager with an initial presentation of an idiopathic thrombocytopenia (ITP) and present a narrative review of literature. PMID:22727506

  4. Carpal tunnel syndrome diagnosis.

    PubMed

    Sucher, Benjamin M; Schreiber, Adam L

    2014-05-01

    Carpal tunnel syndrome (CTS) is a common median nerve compression syndrome and the most common peripheral mononeuropathy. The clinical syndrome is diagnosed by history and physical examination. Electrodiagnostic testing is the objective method used to measure median nerve dysfunction at the wrist and confirm the clinical diagnosis of CTS. Neuromuscular ultrasound imaging of the carpal tunnel provides supportive diagnostic information by revealing pathologic nerve swelling in CTS, and other anatomic anomalies that compress the median nerve. These tests cannot be used to make the diagnosis in the absence of history that includes CTS symptom criteria and excludes other causes. PMID:24787330

  5. Evolution of periodicity in periodical cicadas

    PubMed Central

    Ito, Hiromu; Kakishima, Satoshi; Uehara, Takashi; Morita, Satoru; Koyama, Takuya; Sota, Teiji; Cooley, John R.; Yoshimura, Jin

    2015-01-01

    Periodical cicadas (Magicicada spp.) in the USA are famous for their unique prime-numbered life cycles of 13 and 17 years and their nearly perfectly synchronized mass emergences. Because almost all known species of cicada are non-periodical, periodicity is assumed to be a derived state. A leading hypothesis for the evolution of periodicity in Magicicada implicates the decline in average temperature during glacial periods. During the evolution of periodicity, the determinant of maturation in ancestral cicadas is hypothesized to have switched from size dependence to time (period) dependence. The selection for the prime-numbered cycles should have taken place only after the fixation of periodicity. Here, we build an individual-based model of cicadas under conditions of climatic cooling to explore the fixation of periodicity. In our model, under cold environments, extremely long juvenile stages lead to extremely low adult densities, limiting mating opportunities and favouring the evolution of synchronized emergence. Our results indicate that these changes, which were triggered by glacial cooling, could have led to the fixation of periodicity in the non-periodical ancestors. PMID:26365061

  6. Evolution of periodicity in periodical cicadas.

    PubMed

    Ito, Hiromu; Kakishima, Satoshi; Uehara, Takashi; Morita, Satoru; Koyama, Takuya; Sota, Teiji; Cooley, John R; Yoshimura, Jin

    2015-01-01

    Periodical cicadas (Magicicada spp.) in the USA are famous for their unique prime-numbered life cycles of 13 and 17 years and their nearly perfectly synchronized mass emergences. Because almost all known species of cicada are non-periodical, periodicity is assumed to be a derived state. A leading hypothesis for the evolution of periodicity in Magicicada implicates the decline in average temperature during glacial periods. During the evolution of periodicity, the determinant of maturation in ancestral cicadas is hypothesized to have switched from size dependence to time (period) dependence. The selection for the prime-numbered cycles should have taken place only after the fixation of periodicity. Here, we build an individual-based model of cicadas under conditions of climatic cooling to explore the fixation of periodicity. In our model, under cold environments, extremely long juvenile stages lead to extremely low adult densities, limiting mating opportunities and favouring the evolution of synchronized emergence. Our results indicate that these changes, which were triggered by glacial cooling, could have led to the fixation of periodicity in the non-periodical ancestors. PMID:26365061

  7. [Restless-legs syndrome].

    PubMed

    Karroum, E; Konofal, E; Arnulf, I

    2008-01-01

    Restless-legs syndrome (RLS) is a sensorimotor disorder, characterized by an irresistible urge to move the legs usually accompanied or caused by uncomfortable and unpleasant sensations. It begins or worsens during periods of rest or inactivity, is partially or totally relieved by movements and is exacerbated or occurs at night and in the evening. RLS sufferers represent 2 to 3% of the general population in Western countries. Supportive criteria include a family history, the presence of periodic-leg movements (PLM) when awake or asleep and a positive response to dopaminergic treatment. The RLS phenotypes include an early onset form, usually idiopathic with a familial history and a late onset form, usually secondary to peripheral neuropathy. Recently, an atypical RLS phenotype without PLM and l-DOPA resistant has been characterized. RLS can occur in childhood and should be distinguished from attention deficit/hyperactivity disorder, growing pains and sleep complaints in childhood. RLS should be included in the diagnosis of all patients consulting for sleep complaints or discomfort in the lower limbs. It should be differentiated from akathisia, that is, an urge to move the whole body without uncomfortable sensations. Polysomnographic studies and the suggested immobilization test can detect PLM. Furthermore, an l-DOPA challenge has recently been validated to support the diagnosis of RLS. RLS may cause severe-sleep disturbances, poor quality of life, depressive and anxious symptoms and may be a risk factor for cardiovascular disease. In most cases, RLS is idiopathic. It may also be secondary to iron deficiency, end-stage renal disease, pregnancy, peripheral neuropathy and drugs, such as antipsychotics and antidepressants. The small-fiber neuropathy can mimic RLS or even trigger it. RLS is associated with many neurological and sleep disorders including Parkinson's disease, but does not predispose to these diseases. The pathophysiology of RLS includes an altered brain-iron metabolism, a dopaminergic dysfunction, a probable role of pain control systems and a genetic susceptibility with nine loci and three polymorphisms in genes serving developmental functions. RLS treatment begins with the elimination of triggering factors and iron supplementation when deficient. Mild or intermittent RLS is usually treated with low doses of l-DOPA or codeine; the first-line treatment for moderate to severe RLS is dopaminergic agonists (pramipexole, ropinirole, rotigotine). In severe, refractory or neuropathy-associated RLS, antiepileptic (gabapentin, pregabalin) or opioid (oxycodone, tramadol) drugs can be used. PMID:18656214

  8. Salivary cortisol profiles in chronic fatigue syndrome.

    PubMed

    Wood, B; Wessely, S; Papadopoulos, A; Poon, L; Checkley, S

    1998-01-01

    Salivary cortisol profiles (hourly sampling over a 16-hour period) of 10 patients with chronic fatigue syndrome (CFS) but without concurrent depressive disorder were compared with those of 10 healthy volunteers matched for age, sex and menstrual cycle. The mean saliva cortisol concentration over the 16-hour period was slightly but significantly greater in the patients than the controls (p < 0.05). These findings are at variance with earlier reports that CFS is a hypocortisolaemic state and suggest that in CFS the symptom of fatigue is not caused by hypocortisolaemia. PMID:9438265

  9. Complex Regional Pain Syndrome

    MedlinePLUS

    Complex regional pain syndrome (CRPS) is a chronic pain condition. It causes intense pain, usually in the arms, hands, legs, or feet. ... in skin temperature, color, or texture Intense burning pain Extreme skin sensitivity Swelling and stiffness in affected ...

  10. Dental Issues & Down Syndrome

    MedlinePLUS

    ... gums clean and help to minimize the inflammation. Cavities Some research says that people with Down syndrome ... of cavities. What Can I Do to Prevent Cavities and Gum Disease? Brush teeth twice daily with ...

  11. Tarsal Tunnel Syndrome

    MedlinePLUS

    ... ACFAS | Información en Español Advanced Search Home » Foot & Ankle Conditions » Tarsal Tunnel Syndrome Text Size Print Bookmark ... space that lies on the inside of the ankle next to the ankle bones. The tunnel is ...

  12. Os Trigonum Syndrome

    MedlinePLUS

    ... ACFAS | Información en Español Advanced Search Home » Foot & Ankle Conditions » Os Trigonum Syndrome Text Size Print Bookmark ... extra (accessory) bone that sometimes develops behind the ankle bone (talus). It is connected to the talus ...

  13. Turner Syndrome (For Teens)

    MedlinePLUS

    ... that affects about 1 in every 2,500 girls. Although researchers don't know exactly what causes ... it's the result of a problem with a girl's chromosomes . Girls with Turner syndrome are usually short ...

  14. Carpal Tunnel Syndrome

    MedlinePLUS

    ... objects, such as a doorknob or the steering wheel of a car. Weakness in your thumb. How ... that may help prevent carpal tunnel syndrome Lose weight if you're overweight. Get treatment for any ...

  15. Blind loop syndrome

    MedlinePLUS

    Blind loop syndrome occurs when digested food slows or stops moving through part of the intestines. This ... The name of this condition refers to the "blind loop" formed by part of the intestine that ...

  16. Alport Syndrome Diagnosis

    MedlinePLUS

    ... the presence or absence of the type IV collagen alpha-3, alpha-4 and alpha-5 chains ( ... linked Alport Syndrome) is suspected. The type IV collagen alpha-5 chain (COL4A5) is normally present in ...

  17. Shaken Baby Syndrome.

    ERIC Educational Resources Information Center

    Alexander, Randell C.; Smith, Wilbur L.

    1998-01-01

    Discusses the history, epidemiology, biomechanics, diagnosis, treatment, outcomes, long-term management, and prevention of shaken baby syndrome. It presents medical-legal issues as well as a discussion of programs aimed at prevention of physical abuse. (Author/DB)

  18. Fetal Alcohol Syndrome

    MedlinePLUS

    ... drink other beverages instead, such as water, fruit juices or milk. Questions to Ask Your Doctor If your baby was born with fetal alcohol syndrome: What health problems does my baby have? Does my baby ...

  19. Ovarian hyperstimulation syndrome

    MedlinePLUS

    ... 3 to 6% of women who go through in vitro fertilization . Other risk factors for OHSS include: Being younger than age 35 Having a very high estrogen level during fertility treatments Having polycystic ovarian syndrome

  20. Obesity hypoventilation syndrome (OHS)

    MedlinePLUS

    Obesity hypoventilation syndrome (OHS) is a condition in some obese people in which poor breathing leads to ... Maintain a healthy weight and avoid obesity. Use your CPAP or BiPAP treatment as your health care provider prescribed.

  1. ADHD & Down Syndrome

    MedlinePLUS

    ... at an accredited sleep center. What Types of Communication Difficulties Can Look Like ADHD? People with Down syndrome may have many barriers to effective communication. The receptive language skills of children with Down ...

  2. Sudden Infant Death Syndrome

    MedlinePLUS

    Sudden infant death syndrome (SIDS) is the sudden, unexplained death of an infant younger than one year old. Some people call SIDS "crib death" because many babies who die of SIDS are found in their ...

  3. Loeys-Dietz Syndrome

    MedlinePLUS

    ... syndrome is a genetic disorder of the body’s connective tissue. It has some features in common with Marfan ... how to make proteins, including the proteins in connective tissue. These genes are called transforming growth factor beta- ...

  4. Meconium aspiration syndrome

    MedlinePLUS

    ... syndrome occurs when a newborn baby breathes a mixture of meconium and amniotic fluid into the lungs ... attached to a bag that delivers an oxygen mixture to inflate the baby's lungs. The infant may ...

  5. Blueberries and Metabolic Syndrome

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Metabolic Syndrome is a cluster of metabolic disorders that increase the risk of cardiovascular diseases. Type 2 diabetes, elevated blood pressure, and atherogenic dyslipidemia are among the metabolic alterations that predispose the individual to several adverse cardiovascular complications. The hea...

  6. Klippel-Trenaunay syndrome

    MedlinePLUS

    ... present at birth. The syndrome usually involves port wine stains , excess growth of bones and soft tissue, ... Many port wine stains or other blood vessel problems, including dark spots on the skin. Varicose veins (may be seen in ...

  7. Turner Syndrome: Other FAQs

    MedlinePLUS

    ... can cause certain learning challenges, including problems learning mathematics and with memory. 7 Most girls and women ... Stanford School of Medicine Center for Interdisciplinary Brain Sciences Research. (n.d.). Turner syndrome . Retrieved June 26, ...

  8. Crouzon Syndrome (Craniofacial Dysostosis)

    MedlinePLUS

    ... Crouzon syndrome may create problems in family and social relationships, school placement, and so on. The craniofacial center may have a psychologist or social worker, or can refer you to one for ...

  9. Polycystic ovary syndrome

    MedlinePLUS

    Polycystic ovary syndrome is a condition in which a woman has an imbalance of female sex hormones. This may ... PCOS is linked to changes in hormone levels that make it harder for the ovaries to release ...

  10. Cannabinoid hyperemesis syndrome.

    PubMed

    Heise, Lynn

    2015-01-01

    Legalization of marijuana use will increase the number of people who will become long-term users. A prior medical record review study in Australia, in 2004, identified 19 chronic marijuana users who entered the emergency department with recurrent vomiting associated with abdominal pain. Routine treatment of the nausea and vomiting, associated with the chronic marijuana abuse, with antiemetics is ineffective in patients with cannabinoid hyperemesis syndrome. Narcotics do not relieve the abdominal pain but may cause worsening rebound pain. The best treatment of cannabinoid hyperemesis syndrome was found to be abstinence from the recreational use of marijuana. It is important for advanced practice nurses to place cannabinoid hyperemesis syndrome in their differentials of patients presenting to the emergency department with recurrent nausea, vomiting, and abdominal pain. They need to be knowledgeable about cannabinoid hyperemesis syndrome to provide the proper management of care for this specific medical condition. PMID:25929220

  11. Congenital nephrotic syndrome

    MedlinePLUS

    ... may be high. There may be signs of malnutrition. A urinalysis reveals fat and large amounts of ... The disorder often leads to infection, malnutrition, and kidney failure. ... die within the first year. Congenital nephrotic syndrome ...

  12. Carpal Tunnel Syndrome

    MedlinePLUS

    ... tunnel syndrome may have trouble typing on the computer or playing a video game. In fact, repetitive ... times as many women as men have CTS. Computer operators, assembly-line workers, and hair stylists are ...

  13. Crigler-Najjar syndrome

    MedlinePLUS

    Seek genetic counseling if you are planning to have children and have a family history of Crigler-Najjar. Call your ... Genetic counseling is recommended for people with a family history of Crigler-Najjar syndrome who want to have ...

  14. Cri du chat syndrome

    MedlinePLUS

    ... of a child with this syndrome should have genetic counseling and testing to determine if one parent has ... child's health care providers after leaving the hospital. Genetic counseling and testing is recommended for all persons with ...

  15. Metabolic Syndrome and Cancer

    PubMed Central

    Pothiwala, Pooja; Jain, Sushil K.

    2009-01-01

    Abstract Since its first description by Reavan in 1988, accepted criteria for clinical identification of the components of metabolic syndrome have been promulgated by the National Cholesterol Education Program/Adult Treatment Panel III (NCEP/ATP III) and the World Health Organization (WHO) as well as the International Diabetes Federation (IDF), and the American Association of Clinical Endocrinologists (AACE). Insulin resistance is a common metabolic abnormality underlying type 2 diabetes mellitus and is also an independent risk factor for cardiovascular disease. Although ATP III identified cardiovascular disease (CVD) as the primary clinical outcome of the metabolic syndrome, we now have evidence that metabolic syndrome is associated with type 2 diabetes mellitus, polycystic ovarian disease, nonalcoholic fatty liver disease, and possibly some cancers. This review summarizes evidence in support of the relationship between metabolic syndrome and various cancers and possible underlying mechanisms and therapeutic interventions. PMID:19284314

  16. Prader-Willi syndrome

    MedlinePLUS

    ... to get food wherever possible. Exercise can increase lean body mass in children with Prader-Willi syndrome. ... Improve physical strength and agility Improve height Increase lean muscle mass and decrease body fat Improve weight ...

  17. Munchausen by Proxy Syndrome

    MedlinePLUS

    ... syndrome (MBPS) is a relatively rare form of child abuse that involves the exaggeration or fabrication of illnesses ... by a primary caretaker. Also known as "medical child abuse," MBPS was named after Baron von Munchausen, an ...

  18. Isaacs syndrome: A review.

    PubMed

    Ahmed, Aiesha; Simmons, Zachary

    2015-07-01

    Isaacs syndrome is a peripheral nerve hyperexcitability (PNH) syndrome that presents as continuous motor activity. Clinical findings include cramps, fasciculations, and myokymia. Electrodiagnosis plays a key role in diagnosis by demonstrating after-discharges on nerve conduction studies, and fasciculation potentials, myokymic discharges, neuromyotonic discharges, and other types of abnormal spontaneous activity on needle examination. Etiopathogenesis involves the interaction of genetic, autoimmune, and paraneoplastic factors, which requires a broad-ranging evaluation for underlying causes. Initial treatment is symptomatic, but immune therapy is often needed and can be effective. The purpose of this review is to describe the syndrome and its pathogenesis, assist the reader in evaluating patients with suspected Isaacs syndrome and distinguishing it from other disorders of PNH, and suggest an approach to management, including both symptomatic and immunomodulating therapy. PMID:25736532

  19. Dandy-Walker Syndrome

    MedlinePLUS

    ... The key features of this syndrome are an enlargement of the fourth ventricle (a small channel that ... early infancy, include slow motor development and progressive enlargement of the skull. In older children, symptoms of ...

  20. Acute Radiation Syndrome

    MedlinePLUS

    ... Planning Information on Specific Types of Emergencies Acute Radiation Syndrome (ARS): A Fact Sheet for the Public ... is called the radiation dose. People exposed to radiation will get ARS only if: The radiation dose ...

  1. Turner Syndrome (For Parents)

    MedlinePLUS

    ... bone development. Girls with TS usually have normal intelligence, but some may experience learning difficulties, particularly in ... Differences Most girls with Turner syndrome have normal intelligence. However, some have learning problems, and early consultation ...

  2. Stockholm syndrome manifestation of Munchausen: an eye-catching misnomer.

    PubMed

    Spuijbroek, Esther J; Blom, Nicole; Braam, Arjan W; Kahn, David A

    2012-07-01

    A young woman hospitalized herself for a picture resembling Stockholm syndrome (becoming a willing captive in a cult, sympathetic to the leader). After a short period of time, it became clear that she had used a false identity and had invented the story, leading to diagnoses of both Munchausen syndrome and dissociative identity disorder. Despite a long period of treatment, she eventually suicided. The authors examine the coexistence of these two unusual disorders and their possible shared etiologies in this complex case. PMID:22805905

  3. Hemiparkinsonism-hemiatrophy syndrome.

    PubMed

    Ayromlou, Hormoz; Najmi, Safa; Arami, Mohammad Ali

    2011-03-01

    The syndrome of hemiparkinsonism-hemiatrophy is an uncommon form of secondary Parkinsonism that presents with unilateral body Parkinsonism plus variable atrophy on the same side. Diagnosis of this syndrome needs a complete past medical history taking, as well as assessment of the familial history, clinical examination and complete paraclinical tests.The response to medical therapy has been variable in various researches. This case showed a good response to the addition of a dopamine agonist to levodopa therapy. PMID:21361726

  4. SYNDROME IN QUESTION*

    PubMed Central

    Chiacchio, Nilton Di; Jasso-Olivares, Julio Cesar; Chiacchio, Nilton Gioia Di; Jacinto, José Antonio; Restrepo, Maria Victoria Suárez

    2015-01-01

    The Iso-Kikuchi Syndrome is a rare condition characterized by nail dysplasia involving the index fingers, including micronychia, polyonychia, anonychia, irregular lunula, malalignment and hemionychogryphosis. On the antero-posterior image, radiologic examination reveals a narrowing of the distal phalanx. The lateral image shows a Y-shaped bifurcation of the distal phalanx. We report a case of a patient with typical clinical and radiologic signs of Iso-Kikuchi Syndrome. PMID:26131880

  5. Syndrome in Question.

    PubMed

    Di Chiacchio, Nilton; Jasso-Olivares, Julio Cesar; Di Chiacchio, Nilton Gioia; Jacinto, José Antonio; Restrepo, Maria Victoria Suárez

    2015-01-01

    The Iso-Kikuchi Syndrome is a rare condition characterized by nail dysplasia involving the index fingers, including micronychia, polyonychia, anonychia, irregular lunula, malalignment and hemionychogryphosis. On the antero-posterior image, radiologic examination reveals a narrowing of the distal phalanx. The lateral image shows a Y-shaped bifurcation of the distal phalanx. We report a case of a patient with typical clinical and radiologic signs of Iso-Kikuchi Syndrome. PMID:26131880

  6. Tourette's syndrome: a treatable tic.

    PubMed Central

    Murray, T. J.

    1978-01-01

    Tourette's syndrome, or Gilles de la Tourette's disease, is a disorder characterized by involuntary tic-like muscular movements, compulsive behaviour and involuntary vocalization of sounds, words or profanities. It begins in childhood and may persist for life, with a varied pattern and course. Recent studies indicate an organic basis for the disorder, and an abnormality of dopamine or purine metabolism has been suggested. The treatment of choice is haloperidol administration; most patients do well with low or moderate doses for long periods. Because these patients are often mistakenly regarded as anxious, psychoneurotic or hysterical, correct diagnosis is important if they are to be treated appropriately and regarded properly in the home, school and society. PMID:350368

  7. Familial Periodic Paralyses

    MedlinePLUS

    ... two most common types of periodic paralyses are: Hypokalemic periodic paralysis is characterized by a fall in potassium levels ... develop chronic muscle weakness later in life. Hyperkalemic periodic ... than the hypokalemic form. Muscle spasms are common. Is there any ...

  8. Hamartomatous polyposis syndromes: A review

    PubMed Central

    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 Gorlin Syndrome and multiple endocrine neoplasia syndrome 2B are sometimes referred to as HPS. HPS is characterized by the development of hamartomatous polyps in the gastrointestinal tract as well as several extra-intestinal findings such as dermatological and dysmorphic features or extra-intestinal cancer. The syndromes are rare and inherited in an autosomal dominant manner. The diagnosis of HPS has traditionally been based on clinical criteria, but can sometimes be difficult as the severity of symptoms range considerably from only a few symptoms to very severe cases - even within the same family. De novo cases are also frequent. However, because of the discovery of several associated germline-mutations as well as the rapid development in genetics it is now possible to use genetic testing more often in the diagnostic process. Management of the syndromes is different for each syndrome as extra-intestinal symptoms and types of cancers differs. Clinical awareness and early diagnosis of HPS is important, as affected patients and at-risk family members should be offered genetic counselling and surveillance. Surveillance in children with HPS might prevent or detect intestinal or extra-intestinal complications, whereas in adulthood surveillance is recommended due to an increased risk of cancer e.g. intestinal cancer or breast cancer. PMID:25022750

  9. Symptoms and Diagnosis of Metabolic Syndrome

    MedlinePLUS

    ... Tools & Resources Stroke More Symptoms and Diagnosis of Metabolic Syndrome Updated:Nov 20,2014 What are the symptoms ... content was last reviewed on 05/14/2014. Metabolic Syndrome • Home • About Metabolic Syndrome • Why Metabolic Syndrome Matters • ...

  10. Fragile X Syndrome (FXS): Associated Disorders

    MedlinePLUS

    ... associated tremor/ataxia syndrome Fragile X Syndrome (Full Mutation) Fragile X syndrome (FXS) is the most common ... Fragile X syndrome often results from a full mutation of the FMR1 gene. Learn more about FXS » ...

  11. Learning about Cri du Chat Syndrome

    MedlinePLUS

    ... chat syndrome - also known as 5p- syndrome and cat cry syndrome - is a rare genetic condition that ... du chat syndrome usually include a high-pitched cat-like cry, mental retardation, delayed development, distinctive facial ...

  12. Genetics Home Reference: Otopalatodigital syndrome type 1

    MedlinePLUS

    ... includes otopalatodigital syndrome type 2, frontometaphyseal dysplasia, and Melnick-Needles syndrome. In general, these disorders involve hearing ... characteristic facial features. Read more about frontometaphyseal dysplasia ; Melnick-Needles syndrome ; and otopalatodigital syndrome type 2 . How ...

  13. Genetics Home Reference: Otopalatodigital syndrome type 2

    MedlinePLUS

    ... includes otopalatodigital syndrome type 1, frontometaphyseal dysplasia, and Melnick-Needles syndrome. In general, these disorders involve hearing ... expansion for breathing. Read more about frontometaphyseal dysplasia ; Melnick-Needles syndrome ; and otopalatodigital syndrome type 1 . How ...

  14. Creutzfeldt-Jakob-Like Syndrome due to Hypercalcemic Encephalopathy.

    PubMed

    Rösche, Johannes; Sieveking, Catharina; Kampf, Christina; Benecke, Reiner

    2015-10-01

    Hypercalcemia can cause a subacute syndrome of progressive dementia and marked changes in the electroencephalogram (EEG). We report a case of iatrogenic hypercalcemia with a close correlation between the clinical course and the EEG changes. A 73-year-old woman presented with a subacute syndrome of progressive dementia and bursts of 1.5 to 2 Hz intermittent rhythmic delta activity superimposed on a low-voltage background activity in the EEG. Clinical and EEG abnormalities rapidly resolved after normalization of serum calcium levels. As part of the diagnostic workup of a subacute progressive dementia, a serum calcium level and an EEG should be obtained to detect a Creutzfeldt-Jakob like syndrome in hypercalcemia. Unlike in Creutzfeldt-Jakob disease, and Creutzfeldt-Jakob-like syndrome induced by lithium intoxication, there are rarely myoclonic jerks and periodic discharges in hypercalcemic encephalopathy. PMID:24973231

  15. Dhat syndrome: Evolution of concept, current understanding, and need of an integrated approach.

    PubMed

    Kar, Sujita Kumar; Sarkar, Siddharth

    2015-01-01

    Dhat syndrome has often been construed as a culture-bound sexual neurosis of the Indian subcontinent. Symptoms similar to that of Dhat syndrome has been described in other cultures across different time periods. The present paper looks at the evolution of the concept of Dhat syndrome in India. The review also takes an overview of the current understanding of this syndrome in terms of nosological status as a distinct entity and its "culture-bound" status. The narrative finally attempts to discuss the integrated approach for the treatment of this disorder. PMID:26538854

  16. Methylation is less abundant in BRCA1-associated compared with sporadic breast cancer

    PubMed Central

    Suijkerbuijk, K. P. M.; Fackler, M. J.; Sukumar, S.; van Gils, C. H.; van Laar, T.; van der Wall, E.; Vooijs, M.; van Diest, P. J.

    2008-01-01

    Background: Promoter methylation is a common epigenetic mechanism to silence tumor suppressor genes during breast cancer development. We investigated whether BRCA1-associated breast tumors show cancer-predictive methylation patterns similar to those found in sporadic tumors. Patients and methods: Quantitative multiplex methylation-specific PCR of 11 genes involved in breast carcinogenesis (RARB, RASSF1, TWIST1, CCND2, ESR1, SCGB3A1, BRCA1, BRCA2, CDKN2A, APC, CDH1) was carried out on 32 BRCA1-associated and 46 sporadic breast carcinomas and on normal breast tissue from seven BRCA1 mutation carriers and 13 non-carriers. Results: The extent of cumulative methylation increased with age (P < 0.001). The median cumulative methylation index (CMI) of all studied genes was significantly higher in tumors (89) than in normal tissue (13, P < 0.001). The median CMI was significantly lower in BRCA1-associated (59) than in sporadic breast tumors (122, P = 0.001), in estrogen receptor (ER)-negative tumors (73) than in ER-positive tumors (122, P = 0.005) and in lymph node-negative (77) compared with lymph node-positive tumors (137, P = 0.007). In subgroup analysis, the effect of a BRCA1 germline mutation on methylation proved to be independent of ER status, lymph node status and age. Conclusions: These data indicate that BRCA1-associated breast cancers show less promoter methylation compared with sporadic breast carcinomas indicating a difference in disease etiology. PMID:18647968

  17. Pre-Menstrual Syndrome in Women with Down Syndrome

    ERIC Educational Resources Information Center

    Mason, Linda; Cunningham, Cliff

    2009-01-01

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

  18. Cardiopulmonary Syndromes—Patient Version

    Cancer.gov

    Expert-reviewed information summary about common conditions that produce chest symptoms. The cardiopulmonary syndromes addressed in this summary are cancer-related dyspnea, malignant pleural effusion, pericardial effusion, and superior vena cava syndrome.

  19. Genetics Home Reference: Menkes syndrome

    MedlinePLUS

    ... syndrome? Menkes syndrome is a disorder that affects copper levels in the body. It is characterized by ... not live past age 3. Early treatment with copper may improve the prognosis in some affected individuals. ...

  20. Chronic Fatigue Syndrome (CFS): Diagnosis

    MedlinePLUS

    ... CDC.gov . Chronic Fatigue Syndrome (CFS) Share Compartir Diagnosis Diagnostic Challenges For doctors, diagnosing chronic fatigue syndrome ( ... severity. These factors have contributed to a low diagnosis rate. Of the one to four million Americans ...

  1. Genetics Home Reference: Usher syndrome

    MedlinePLUS

    ... and Families Resources for Health Professionals What glossary definitions help with understanding Usher syndrome? autosomal ; autosomal recessive ; cell ; cones ; gene ; hair cells ; inherited ; loss of hair ; peripheral ; population ; recessive ; retina ; rods ; sensory cells ; syndrome ; tissue You ...

  2. Middle East Respiratory Syndrome (MERS)

    MedlinePLUS

    ... Search The CDC Cancel Submit Search The CDC Middle East Respiratory Syndrome (MERS) Note: Javascript is disabled or ... CDC.gov . Recommend on Facebook Tweet Share Compartir Middle East Respiratory Syndrome (MERS) is a viral respiratory illness ...

  3. How Is Metabolic Syndrome Treated?

    MedlinePLUS

    ... page from the NHLBI on Twitter. How Is Metabolic Syndrome Treated? Heart-healthy lifestyle changes are the first line of treatment for metabolic syndrome. Lifestyle changes include heart-healthy eating , losing and ...

  4. Hemolytic Uremic Syndrome in Children

    MedlinePLUS

    ... of hemolytic uremic syndrome in children is an Escherichia coli (E. coli) infection of the digestive system. The ... of hemolytic uremic syndrome in children is an Escherichia coli ( E. coli ) infection of the digestive system. Normally, ...

  5. Syndromic disorders with short stature.

    PubMed

    ??klar, Zeynep; Berbero?lu, Merih

    2014-01-01

    Short stature is one of the major components of many dysmorphic syndromes. Growth failure may be due to a wide variety of mechanisms, either related to the growth hormone (GH)/insulin-like growth factor axis or to underlying unknown pathologies. In this review, the relatively more frequently seen syndromes with short stature (Noonan syndrome, Prader-Willi syndrome, Silver-Russell syndrome and Aarskog-Scott syndrome) were discussed. These disorders are associated with a number of endocrinopathies, as well as with developmental, systemic and behavioral issues. At present, GH therapy is used in most syndromic disorders, although long-term studies evaluating this treatment are insufficient and some controversies exist with regard to GH dose, optimal age to begin therapy and adverse effects. Before starting GH treatment, patients with syndromic disorders should be evaluated extensively. PMID:24637303

  6. Genetics Home Reference: Fraser syndrome

    MedlinePLUS

    ... FRAS1 gene mutations are the most common cause, accounting for about half of cases of Fraser syndrome. ... Where can I find information about diagnosis or management of Fraser syndrome? These resources address the diagnosis ...

  7. Down Syndrome and Alzheimer's Disease

    MedlinePLUS

    ... accelerate research and move closer to a cure. Down Syndrome and Alzheimer's Disease Tweet As they age, those ... disease. About Symptoms Diagnosis Causes & risks Treatments About Down Syndrome and Alzheimer's Higher prevalence of Alzheimer's in people ...

  8. Genetics Home Reference: Costello syndrome

    MedlinePLUS

    ... with Costello syndrome is a childhood cancer called rhabdomyosarcoma, which begins in muscle tissue. Neuroblastoma, a tumor ... hypertrophic ; hypotonia ; malformation ; muscle tone ; mutation ; prevalence ; protein ; rhabdomyosarcoma ; short stature ; stature ; syndrome ; tissue ; transitional cell carcinoma ; ...

  9. Genetics Home Reference: Emanuel syndrome

    MedlinePLUS

    ... this condition have been reported. What are the genetic changes related to Emanuel syndrome? Emanuel syndrome is ... Center . Where can I find general information about genetic conditions? The Handbook provides basic information about genetics ...

  10. Genetics Home Reference: Williams syndrome

    MedlinePLUS

    ... 500 to 10,000 people. What are the genetic changes related to Williams syndrome? Williams syndrome is ... Center . Where can I find general information about genetic conditions? The Handbook provides basic information about genetics ...

  11. Genetic Features of Turner Syndrome

    MedlinePLUS

    Genetic Features Quick Navigation Introduction X-monosomy X-mosaicism X-defects Hereditary Aspects Figure 1. Gametogenesis Figure ... Figure 3. X Chromosome Abnormalities Figure 4. Mosaicism Genetic Features of Turner Syndrome Turner syndrome is a ...

  12. Genetics Home Reference: Turner syndrome

    MedlinePLUS

    ... to term (miscarriages and stillbirths). What are the genetic changes related to Turner syndrome? Turner syndrome is ... Center . Where can I find general information about genetic conditions? The Handbook provides basic information about genetics ...

  13. Genetics Home Reference: Klinefelter syndrome

    MedlinePLUS

    ... with those of other conditions. What are the genetic changes related to Klinefelter syndrome? Klinefelter syndrome is ... Center . Where can I find general information about genetic conditions? The Handbook provides basic information about genetics ...

  14. Genetics Home Reference: Alström syndrome

    MedlinePLUS

    ... and Families Resources for Health Professionals What glossary definitions help with understanding Alström syndrome? acanthosis nigricans ; autosomal ; ... recessive ; short stature ; stature ; syndrome You may find definitions for these and many other terms in the ...

  15. Lees' syndrome: a case series.

    PubMed

    Becker, Nilson; Munhoz, Renato P; Teive, Hélio A G

    2011-10-01

    We report a case series of dopamine dysregulation syndrome, previously known as hedonistic homeostatic dysregulation in patients with Parkinson's disease on dopamine replacement therapies, now designated as Lees' syndrome. PMID:22042176

  16. Genetics Home Reference: Werner syndrome

    MedlinePLUS

    ... diabetes, diminished fertility, severe hardening of the arteries (atherosclerosis), thinning of the bones (osteoporosis), and some types ... most common causes of death are cancer and atherosclerosis. How common is Werner syndrome? Werner syndrome is ...

  17. Osler-Weber-Rendu syndrome

    MedlinePLUS

    Osler-Weber-Rendu syndrome is an inherited disorder of the blood vessels that can cause excessive bleeding. ... Osler-Weber-Rendu syndrome is a condition passed down through families. It results from a problem in one of ...

  18. Genetics Home Reference: Majeed syndrome

    MedlinePLUS

    ... play a role in the processing of fats (lipid metabolism). However, no lipid abnormalities have been found with Majeed syndrome. Lipin- ... division ; chronic ; congenital ; fever ; gene ; inflammation ; inherited ; joint ; lipid ; metabolism ; osteomyelitis ; oxygen ; protein ; psoriasis ; recessive ; Sweet syndrome ; ...

  19. Chronic Fatigue Syndrome (CFS): Symptoms

    MedlinePLUS

    ... message, please visit this page: About CDC.gov . Chronic Fatigue Syndrome (CFS) Share Compartir Symptoms On this Page Primary ... Other Symptoms What's the Clinical Course of CFS? Chronic fatigue syndrome can be misdiagnosed or overlooked because its symptoms ...

  20. The radiologically isolated syndrome.

    PubMed

    Lebrun, C

    2015-10-01

    Even prior to the introduction of criteria defining the radiologically isolated syndrome (RIS), longitudinal clinical data from individuals with incidentally identified T2 lesions suggestive of multiple sclerosis (MS) were described. Healthy individuals who do not exhibit signs of neurological dysfunction may have a brain MRI performed for a reason other than suspicion of MS that reveals unexpected anomalies highly suggestive of demyelinating plaques given their size, location, and morphology. These healthy subjects lack a history or symptomatology suggestive of MS and fulfill formal criteria for RIS, a recently described MS subtype that shares the phenotype of at-risk individuals for future demyelinating events. A formal description of RIS was first introduced in 2009 by Okuda et al., and defines a cohort of individuals who are at risk for future demyelinating events. European or North American observational studies have found that up to 30-45% of patients presenting with RIS will present with neurological symptoms, either acute or progressive. The median time to clinical conversion differs between studies. It was 2.3 years for a series of French patients and 5.4 years for an American cohort. Most patients who developed clinical symptoms had prior radiological progression. The presence of asymptomatic lesions in the cervical cord indicated an increased risk of progression, either to relapsing or to progressive MS. The consortium studying the epidemiology of RIS worldwide (RISC) presented their first retrospective cohort last year. Data were available for 451 RIS subjects (F: 354 [78.5%]). The mean age at RIS diagnosis was 37.2 years with a mean clinical follow-up time of 4.4 years. The observed 5-year conversion rate to the first clinical event was 34%. Of the converters within this time period, 9.6% fulfilled criteria for primary progressive MS. In the multivariate model, age, sex (male), and lesions within the cervical or thoracic spinal cord were identified as significant predictors for the development of a first clinical event. Cognitive impairment is observed in RIS patients, and two studies demonstrated a significant proportion of patients with cognitive decline compared with healthy controls. Despite progress into the characterization of RIS subjects and into our understanding of risk factors for initial symptom development, the natural course of such cases and risk-profiles for a seminal neurological event, from prospectively acquired data, remain unclear. A prospective study is mandatory to increase our knowledge about these asymptomatic patients and individual therapeutic initiatives cannot be undertaken until a prospective clinical study demonstrates the benefit of introducing a disease modifying treatment for this very early stage of a chronic demyelinating disease. PMID:26410363

  1. Management of Neuroacanthocytosis Syndromes

    PubMed Central

    Walker, Ruth H.

    2015-01-01

    Background The two core neuroacanthocytosis (NA) syndromes, chorea-acanthocytosis (ChAc) and McLeod syndrome, are progressive neurodegenerative disorders that primarily affect the basal ganglia. The characteristic phenotype comprises a variety of movement disorders including chorea, dystonia, and parkinsonism, as well as psychiatric and cognitive symptoms attributable to basal ganglia dysfunction. These disorders are symptomatically managed on a case-by-case basis, with very few practitioners seeing more than a single case in their careers. Methods A literature search was performed on PubMed utilizing the terms neuroacanthocytosis, chorea-acanthocytosis, and McLeod syndrome, and articles were reviewed for mentions of therapies, successful or otherwise. Results There have been no blinded, controlled trials and only one retrospective case series describing ChAc. The various therapies that have been used in patients with NA syndromes are summarized. Discussion Management remains at present purely symptomatic, which is similar in principle to other more common basal ganglia neurodegenerative disorders such as Huntington’s disease (HD) and Parkinson’s disease (PD). However, there are some specific issues particular to NA syndromes that merit attention. An integrated multidisciplinary approach is the ideal management strategy for these complex and multifaceted neurodegenerative disorders. PMID:26504667

  2. Sturge-Weber syndrome.

    PubMed

    Comi, Anne M

    2015-01-01

    Sturge-Weber syndrome is the third most common neurocutaneous disorder, after neurofibromatosis and tuberous sclerosis, and impacts approximately 1 in 20000 live births. Sturge-Weber syndrome is not inherited, but rather occurs exclusively sporadically, in both males and females and in all races and ethnic backgrounds. Sturge-Weber syndrome presents at birth with a capillary malformation on the face (port-wine birthmark) with later diagnosis of abnormal vasculature in the eye and the brain which result in a range of complications. The underlying somatic mosaic mutation causing both Sturge-Weber syndrome and isolated port-wine birthmarks was recently discovered and is an activating mutation in GNAQ. When a newborn presents with a facial port-wine birthmark on the upper face, that child has a 15-50% risk of developing Sturge-Weber syndrome brain and/or eye involvement, depending on the extent of the birthmark, and close monitoring and appropriate screening is essential for early diagnosis and optimal treatment. Treatment options include laser therapy for lightening of the birthmark, eye drops and surgery for glaucoma management, and aggressive anticonvulsant treatment, low dose aspirin, and neurosurgery where necessary. Future possible treatments based upon new knowledge of the somatic mutation and downstream pathways are currently being considered and studied. PMID:26564078

  3. Complex regional pain syndrome.

    PubMed

    Bruehl, Stephen

    2015-01-01

    Complex regional pain syndrome is a chronic pain condition characterized by autonomic and inflammatory features. It occurs acutely in about 7% of patients who have limb fractures, limb surgery, or other injuries. Many cases resolve within the first year, with a smaller subset progressing to the chronic form. This transition is often paralleled by a change from "warm complex regional pain syndrome," with inflammatory characteristics dominant, to "cold complex regional pain syndrome" in which autonomic features dominate. Multiple peripheral and central mechanisms seem to be involved, the relative contributions of which may differ between individuals and over time. Possible contributors include peripheral and central sensitization, autonomic changes and sympatho-afferent coupling, inflammatory and immune alterations, brain changes, and genetic and psychological factors. The syndrome is diagnosed purely on the basis of clinical signs and symptoms. Effective management of the chronic form of the syndrome is often challenging. Few high quality randomized controlled trials are available to support the efficacy of the most commonly used interventions. Reviews of available randomized trials suggest that physical and occupational therapy (including graded motor imagery and mirror therapy), bisphosphonates, calcitonin, subanesthetic intravenous ketamine, free radical scavengers, oral corticosteroids, and spinal cord stimulation may be effective treatments. Multidisciplinary clinical care, which centers around functionally focused therapies is recommended. Other interventions are used to facilitate engagement in functional therapies and to improve quality of life. PMID:26224572

  4. Genetics Home Reference: Ochoa syndrome

    MedlinePLUS

    ... help with understanding Ochoa syndrome? anus ; autosomal ; autosomal recessive ; cell ; constipation ; gene ; incontinence ; inflammation ; inherited ; inversion ; kidney ; palsy ; protein ; recessive ; ...

  5. Treatment Option Overview (Myelodysplastic Syndromes)

    MedlinePLUS

    ... Patient Myelo-proliferative Neoplasms Patient Myelodysplastic Syndromes Treatment Myeloproliferative Neoplasms Treatment Myelodysplastic/ Myeloproliferative Neoplasms Treatment Health Professional Myelodysplastic ...

  6. Treatment Options for Myelodysplastic Syndromes

    MedlinePLUS

    ... Patient Myelo-proliferative Neoplasms Patient Myelodysplastic Syndromes Treatment Myeloproliferative Neoplasms Treatment Myelodysplastic/ Myeloproliferative Neoplasms Treatment Health Professional Myelodysplastic ...

  7. General Information about Myelodysplastic Syndromes

    MedlinePLUS

    ... Patient Myelo-proliferative Neoplasms Patient Myelodysplastic Syndromes Treatment Myeloproliferative Neoplasms Treatment Myelodysplastic/ Myeloproliferative Neoplasms Treatment Health Professional Myelodysplastic ...

  8. Reversible cerebral vasoconstriction syndrome: a comprehensive update.

    PubMed

    Mehdi, Ali; Hajj-Ali, Rula A

    2014-09-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is a clinico-radiological syndrome characterized by recurrent thunderclap headache, with or without neurologic symptoms, and reversible vasoconstriction of cerebral arteries. RCVS affects patients in various racial and ethnic groups and in all age groups, although most commonly in the fourth decade of life. Many conditions and exposures have been linked to RCVS, including vasoactive drugs and the peripartum period. Disturbance of the cerebral vascular tone is thought to contribute to the disease's pathophysiology. RCVS generally follows a monophasic course. Associated strokes and cerebral hemorrhages are not uncommon. In this review we will attempt to provide a comprehensive overview of RCVS, with emphasis on the controversies in the field and the newest findings in the reported literature. PMID:25138149

  9. Recurrent Tolosa-Hunt syndrome: a report of ten new cases.

    PubMed

    Hannerz, J

    1999-12-01

    Ten patients (6F, 4M) with recurrent Tolosa-Hunt syndrome are reported. Besides ocular motor symptoms, one patient had trigeminal nerve involvement, one had ipsilateral ocular sympathicoplegia with miosis and ptosis, and one tinnitus during an episode of Tolosa-Hunt syndrome, ipsilateral to the pain side. One patient had Bell's palsy, one had a possible Raeder's syndrome, and one had a period of tinnitus between the Tolosa-Hunt syndrome episodes. Three of the 10 patients reported periods of periocular pain without ophthalmoplegia between the Tolosa-Hunt episodes, the pain located ipsilateral to the ophthalmoplegic side in the Tolosa-Hunt episodes. Systemic symptoms associated with Tolosa-Hunt syndrome, e.g., back pain, chronic fatigue, arthralgia, gut problems among others, occurred with the same frequency in these 10 patients as in an earlier report. Seventy per cent of the patients had signs of inflammation in serum during a period of Tolosa-Hunt syndrome. Orbital phlebograms showed pathologic signs in four of the five patients investigated during a Tolosa-Hunt period. One phlebogram was normal in a sixth patient when performed during a period of unilateral periocular pain without ophthalmolegia. Magnetic resonance imaging of the head (with contrast) was only performed in three patients during the Tolosa-Hunt period: one showed signs of inflammation in the middle fossa and two were normal. In one of the patients with normal magnetic resonance imaging, the orbital phlebogram was pathologic. Steroid treatment promptly relieved the pain in all patients. PMID:10668117

  10. Urinary Peptides in Rett Syndrome.

    ERIC Educational Resources Information Center

    Solaas, K. M.; Skjeldal, O.; Gardner, M. L. G.; Kase, B. F.; Reichelt, K. L.

    2002-01-01

    A study found a significantly higher level of peptides in the urine of 53 girls with Rett syndrome compared with controls. The elevation was similar to that in 35 girls with infantile autism. Levels of peptides were lower in girls with classic Rett syndrome than those with congenital Rett syndrome. (Contains references.) (Author/CR)

  11. Down Syndrome: A Cardiovascular Perspective

    ERIC Educational Resources Information Center

    Vis, J. C.; Duffels, M. G. J.; Winter, M. M.; Weijerman, M. E.; Cobben, J. M.; Huisman, S. A.; Mulder, B. J. M.

    2009-01-01

    This review focuses on the heart and vascular system in patients with Down syndrome. A clear knowledge on the wide spectrum of various abnormalities associated with this syndrome is essential for skillful management of cardiac problems in patients with Down syndrome. Epidemiology of congenital heart defects, cardiovascular aspects and…

  12. Severe acute respiratory syndrome (SARS)

    MedlinePLUS

    Severe acute respiratory syndrome (SARS) is a serious form of pneumonia . It is caused by a virus that was first identified ... chap 366. McIntosh K, Perlman S. Coronaviruses, including severe ... syndrome (SARS)and Middle East respiratory syndrome (MERS). In: ...

  13. An Overview of Down Syndrome.

    ERIC Educational Resources Information Center

    Pueschel, Siegfried M.

    This booklet presents information regarding the history, incidence, and effects of Down Syndrome. The first chapter, presenting an historical perspective of the condition, provides information on counseling parents of Down Syndrome children, and the chromosome structures seen in Down Syndrome patients. The next chapter discusses medical aspects in…

  14. Teaching discriminated social approaches to individuals with Angelman syndrome.

    PubMed

    Fichtner, Caitlin S; Tiger, Jeffrey H

    2015-12-01

    Angelman syndrome is a neurogenetic disorder characterized by intellectual and developmental disability. Common behavioral characteristics of this disorder include a heightened interest in social interactions and frequent bids to initiate interaction. These bids can be problematic, for instance, when a child attempts to hug strangers in public places. The current study evaluated a discrimination training program to teach 3 boys with Angelman syndrome to discriminate appropriate from inappropriate times to initiate interactions. During baseline, we alternated periods in which attention was delivered following social initiations on a continuous reinforcement schedule with periods in which initiations were placed on extinction. We then implemented discrimination training by presenting a salient discriminative stimulus, prompting the occurrence of initiations, and providing reinforcement during reinforcement periods and withdrawing the stimulus during extinction periods. This resulted in discriminated approaches for each of the 3 participants; these results were replicated across caregivers and extended to the participants' homes. PMID:26250932

  15. Double Crush Syndrome.

    PubMed

    Kane, Patrick M; Daniels, Alan H; Akelman, Edward

    2015-09-01

    Double crush syndrome is a distinct compression at two or more locations along the course of a peripheral nerve that can coexist and synergistically increase symptom intensity. In addition, dissatisfaction after treatment at one site may be the result of persistent pathology at another site along a peripheral nerve. Double crush syndrome is a controversial diagnosis; some scientists and surgeons believe it is an illness construction that may do more harm than good because it emphasizes an objective pathophysiologic explanation for unexplained symptoms, disability, and dissatisfaction that may be more psychosocially mediated. However, peripheral neuropathy may coexist with compressive neuropathy and contribute to suboptimal outcomes following nerve decompression. To better manage patients' expectations, treating practitioners should be aware of the possibility of concomitant cervical radiculopathy and carpal tunnel syndrome, as well as the presence of underlying systemic neuropathy. PMID:26306807

  16. Hemolytic uremic syndrome

    PubMed Central

    Canpolat, Nur

    2015-01-01

    Hemolytic uremic syndrome (HUS) is a clinical syndrome characterized by the triad of thrombotic microangiopathy, thrombocytopenia, and acute kidney injury. Hemolytic uremic syndrome represents a heterogeneous group of disorders with variable etiologies that result in differences in presentation, management and outcome. In recent years, better understanding of the HUS, especially those due to genetic mutations in the alternative complement pathway have provided an update on the terminology, classification, and treatment of the disease. This review will provide the updated classification of the disease and the current diagnostic and therapeutic approaches on the complement-mediated HUS in addition to STEC-HUS which is the most common cause of the HUS in childhood. PMID:26265890

  17. Lemierre's syndrome (necrobacillosis)

    PubMed Central

    Golpe, R.; Marin, B.; Alonso, M.

    1999-01-01

    Lemierre's syndrome or postanginal septicaemia (necrobacillosis) is caused by an acute oropharyngeal infection with secondary septic thrombophlebitis of the internal jugular vein and frequent metastatic infections. Fusobacterium necrophorum is the most common pathogen isolated from the patients. The interval between the oropharyngeal infection and the onset of the septicaemia is usually short. The most common sites of septic embolisms are the lungs and joints, and other locations can be affected. A high degree of clinical suspicion is needed to diagnose the syndrome. Computed tomography of the neck with contrast is the most useful study to detect internal jugular vein thrombosis. Treatment includes intravenous antibiotic therapy and drainage of septic foci. The role of anticoagulation is controversial. Ligation or excision of the internal jugular vein may be needed in some cases.???Keywords: Lemierre's syndrome; Fusobacterium necrophorum; necrobacillosis; septicaemia; oropharynx PMID:10448489

  18. The temporal crescent syndrome.

    PubMed

    Ali, Khalid

    2015-02-01

    Retro-chiasmal lesions almost always give rise to homonymous field defects with only one exception. The nasal visual field extends to 60% of the horizon, whereas the temporal field extends to a further 30°-40° beyond that; this part of the visual field is represented on the contralateral anterior parieto-occipital sulcus. A lesion in this area will give rise to monocular visual field defect affecting the contralateral eye. This is called the temporal crescent or the half moon syndrome. In this case report, a woman presented with seizures secondary to haemorrhagic infarction of the anterior part of the parieto-occipital sulcus. She later presented with right-sided visual disturbance; her examination confirmed temporal crescent syndrome. I explain the pathophysiology of this rare neurological syndrome in this report. PMID:25416654

  19. REVIEW paper: mare reproductive loss syndrome.

    PubMed

    Sebastian, M M; Bernard, W V; Riddle, T W; Latimer, C R; Fitzgerald, T D; Harrison, L R

    2008-09-01

    An epidemic of early fetal loss (EFL), late fetal loss (LFL), fibrinous pericarditis, and unilateral uveitis which occurred during the spring of 2001, are together now known as the mare reproductive loss syndrome (MRLS). A similar epidemic with less intensity was reported during the same period of time from southern Ohio, West Virginia, and Tennessee. The same syndrome with lesser intensity recurred in 2002. The estimated economic loss from the syndrome in 2001 and 2002 together was approximately $500 million. Both EFL and LFL were characterized by the absence of specific clinical signs in aborting mares. Nonhemolytic Streptococcus spp. and Actinobacillus spp. accounted for 65% of the organisms isolated from fetuses submitted for a postmortem during the MRLS period in 2001 and 2002. The pathologic findings in fetoplacental units of LFL included bronchopneumonia and funisitis, and there were no findings in EFL. Epidemiologic studies conducted in 2001 suggested an association between the presences of eastern tent caterpillars (ETC) in pastures with MRLS. Experimental studies in pregnant mares by exposure to ETC, or administration by stomach tube or with feed material, reproduced EFL and LFL. Similar experimental studies in mouse, rats, and goats with ETC were unsuccessful. Currently, 2 hypotheses are proposed for MRLS. One hypothesis proposes that an ETC-related toxin with secondary opportunistic bacterial invasion of the fetus leads to MRLS. The second hypothesis suggests that a breach of gastrointestinal mucosal integrity by hairs of ETC leads to a bacteremia and results in MRLS. In 2004, a similar equine abortion storm was reported from Australia and caterpillar exposure was identified as a risk factor for the abortion. In 2006, the syndrome was observed in Florida and New Jersey. PMID:18725479

  20. Postural Orthostatic Tachycardia Syndrome

    PubMed Central

    2014-01-01

    The postural orthostatic tachycardia syndrome is a disease characterized by excessively increased heart rate during orthostatic challenge associated with symptoms of orthostatic intolerance including dizziness, exercise intolerance, headache, fatigue, memory problems, nausea, blurred vision, pallor, and sweating, which improve with recumbence. Postural orthostatic tachycardia syndrome patients may present with a multitude of additional symptoms that are attributable to vascular vasoconstriction. Observed signs and symptoms in a patient with postural orthostatic tachycardia syndrome include tachycardia at rest, exaggerated heart rate increase with upright position and exercise, crushing chest pain, tremor, syncope, loss of vision, confusion, migraines, fatigue, heat intolerance, parasthesia, dysesthesia, allodynia, altered traditional senses, and thermoregulatory abnormalities. There are a number of possible dermatological manifestations of postural orthostatic tachycardia syndrome easily explained by its recently discovered pathophysiology. The author reports the case of a 22-year-old woman with moderate-to-severe postural orthostatic tachycardia syndrome with numerous dermatological manifestations attributable to the disease process. The cutaneous manifestations observed in this patient are diverse and most noticeable during postural orthostatic tachycardia syndrome flares. The most distinct are evanescent, hyperemic, sharply demarcated, irregular patches on the chest and neck area that resolve upon diascopy. This distinct “evanescent hyperemia” disappears spontaneously after seconds to minutes and reappears unexpectedly. Other observed dermatological manifestations of this systemic disease include Raynaud’s phenomenon, koilonychia, onychodystrophy, madarosis, dysesthesia, allodynia, telogen effluvium, increased capillary refill time, and livedo reticularis. The treatment of this disease poses a great challenge. The author reports the unprecedented use of an oral angiotensin II type 1 receptor antagonist resulting in remarkable improvement. PMID:25161760

  1. Using Discrete Trial Instruction to Teach Children with Angelman Syndrome

    ERIC Educational Resources Information Center

    Summers, Jane; Szatmari, Peter

    2009-01-01

    Discrete trial instruction (DTI) was used to teach functional skills to three children with Angelman syndrome, a neurogenetic disorder that overlaps with autism and is associated with severe cognitive, speech, and motor impairments. Children received individual DTI teaching sessions 2 to 3 times per week over a 12-month period and displayed…

  2. Brief Report: Systematic Review of Rett Syndrome in Males

    ERIC Educational Resources Information Center

    Reichow, Brian; George-Puskar, Annie; Lutz, Tara; Smith, Isaac C.; Volkmar, Fred R.

    2015-01-01

    Rett syndrome (RTT) is a neurogenetic disorder in which a period of typical development is followed by loss of previously acquired skills. Once thought to occur exclusively in females, increasing numbers of male cases of RTT have been reported. This systematic review included 36 articles describing 57 cases of RTT in males. Mutations of the MECP2…

  3. Changing the Perspective on Early Development of Rett Syndrome

    ERIC Educational Resources Information Center

    Marschik, Peter B.; Kaufmann, Walter E.; Sigafoos, Jeff; Wolin, Thomas; Zhang, Dajie; Bartl-Pokorny, Katrin D.; Pini, Giorgio; Zappella, Michele; Tager-Flusberg, Helen; Einspieler, Christa; Johnston, Michael V.

    2013-01-01

    We delineated the achievement of early speech-language milestones in 15 young children with Rett syndrome ("MECP2" positive) in the first two years of life using retrospective video analysis. By contrast to the commonly accepted concept that these children are normal in the pre-regression period, we found markedly atypical development of…

  4. [Neuroleptic induced deficit syndrome].

    PubMed

    Szafra?ski, T

    1995-01-01

    Increasing interest in subjective aspects of therapy and rehabilitation focused the attention of psychiatrists, psychologists and psychopharmacologists on the mental side effects of neuroleptics. For the drug-related impairment of affective, cognitive and social function the name of neuroleptic-induced deficit syndrome (NIDS) is proposed. Patients with NIDS appear to be indifferent to the environmental stimuli, retarded and apathetic. They complain of feeling drugged and drowsy, weird, they suffer from lack of motivation, feel like "zombies". The paper presents description of NIDS and its differentiation from negative and depressive symptoms in schizophrenia and subjective perceiving of extrapyramidal syndromes. PMID:7652089

  5. Understanding Thoracic Outlet Syndrome

    PubMed Central

    Freischlag, Julie

    2014-01-01

    The diagnosis of thoracic outlet syndrome was once debated in the world of vascular surgery. Today, it is more understood and surprisingly less infrequent than once thought. Thoracic outlet syndrome (TOS) is composed of three types: neurogenic, venous, and arterial. Each type is in distinction to the others when considering patient presentation and diagnosis. Remarkable advances have been made in surgical approach, physical therapy, and rehabilitation of these patients. Dedicated centers of excellence with multidisciplinary teams have been developed and continue to lead the way in future research. PMID:25140278

  6. [Sturge-Weber syndrome].

    PubMed

    Sugano, Hidenori; Nakanishi, Hajime; Nakajima, Madoka; Higo, Takuma; Iimura, Yasushi; Shimoji, Kazuaki; Arai, Hajime

    2010-07-01

    Sturge-Weber syndrome (SWS) is a rare neurocutaneous syndrome characterized by intracranial leptomeningeal angioma, facial port-wine nevi, and glaucoma. Diagnosis is relatively easy because of the facial angioma and MRI findings, but evaluating severity is difficult. Predictors of SWS's prognosis are epilepsy and brain dysfunction under the leptomeningeal angioma. Therefore, active research has been intensely conducted with electrophysiological, neuroimaging, and neuropsychological methods. Final goals of this research are to define the therapeutic strategy. In this review, we focus on recent advances in neuroimaging and EEG analysis to discover the epileptogenesis, the most adequate therapy, and prospective topics of investigation in SWS. PMID:20628187

  7. Ramsay Hunt syndrome.

    PubMed

    Sweeney, C J; Gilden, D H

    2001-08-01

    The strict definition of the Ramsay Hunt syndrome is peripheral facial nerve palsy accompanied by an erythematous vesicular rash on the ear (zoster oticus) or in the mouth. J Ramsay Hunt, who described various clinical presentations of facial paralysis and rash, also recognised other frequent symptoms and signs such as tinnitus, hearing loss, nausea, vomiting, vertigo, and nystagmus. He explained these eighth nerve features by the close proximity of the geniculate ganglion to the vestibulocochlear nerve within the bony facial canal. Hunt's analysis of clinical variations of the syndrome now bearing his name led to his recognition of the general somatic sensory function of the facial nerve and his defining of the geniculate zone of the ear. It is now known that varicella zoster virus (VZV) causes Ramsay Hunt syndrome. Compared with Bell's palsy (facial paralysis without rash), patients with Ramsay Hunt syndrome often have more severe paralysis at onset and are less likely to recover completely. Studies suggest that treatment with prednisone and acyclovir may improve outcome, although a prospective randomised treatment trial remains to be undertaken. In the only prospective study of patients with Ramsay Hunt syndrome, 14% developed vesicles after the onset of facial weakness. Thus, Ramsay Hunt syndrome may initially be indistinguishable from Bell's palsy. Further, Bell's palsy is significantly associated with herpes simplex virus (HSV) infection. In the light of the known safety and effectiveness of antiviral drugs against VZV or HSV, consideration should be given to early treatment of all patients with Ramsay Hunt syndrome or Bell's palsy with a 7-10 day course of famciclovir (500 mg, three times daily) or acyclovir (800 mg, five times daily), as well as oral prednisone (60 mg daily for 3-5 days). Finally, some patients develop peripheral facial paralysis without ear or mouth rash, associated with either a fourfold rise in antibody to VZV or the presence of VZV DNA in auricular skin, blood mononuclear cells, middle ear fluid, or saliva. This indicates that a proportion of patients with "Bell's palsy" have Ramsay Hunt syndrome zoster sine herpete. Treatment of these patients with acyclovir and prednisone within 7 days of onset has been shown to improve the outcome of recovery from facial palsy. PMID:11459884

  8. The Dubois syndrome.

    PubMed

    Caspari, Rachel; Wolpoff, Milford H

    2012-01-01

    The modem scientific method relies on falsification of large, overarching explanatory hypotheses, but refutation at any level is not easily accepted, nor should it necessarily be. Here we discuss the "Dubois syndrome," based on the history of Eugène Dubois, famous for the discovery and interpretation of Pithecanthropus erectus. Widely viewed as unbalanced for his changing understanding of these important fossils, we discuss how his apparent capriciousness was actually a rational conclusion based on his adherence to a broad evolutionary theory. Examples of the Dubois syndrome are common, perhaps especially so in paleoanthropology because the database, even many years later, is small. PMID:23272593

  9. Syndrome in question*

    PubMed Central

    Rebellato, Priscila Regina Orso; Rezende, Camila Makino; Battaglin, Eveline Roesler; de Lima, Brunno Zeni; Fillus Neto, Jose

    2015-01-01

    Morbihan Syndrome is a rare entity with unknown etiology. It is clinically characterized by chronic erythematous edema on the face - especially in the middle and upper third of the face - and creates abnormal facial contours that are initially intermitent but become permanent with the development of the syndrome. The histopathology is nonspecific and its therapy is a major challenge due to poor response to the various treatment options. We present the case of a male patient with a five-month-history of disease.

  10. Treacher Collins Syndrome

    PubMed Central

    Chang, Christopher C.; Steinbacher, Derek M.

    2012-01-01

    Treacher Collins syndrome is a genetic disorder resulting in congenital craniofacial malformation. Patients typically present with downslanting palpebral fissures, lower eyelid colobomas, microtia, and malar and mandibular hypoplasia. This autosomal dominant disorder has a variable degree of phenotypic expression, and patients have no associated developmental delay or neurologic disease. Care for these patients requires a multidisciplinary team from birth through adulthood. Proper planning, counseling and surgical techniques are essential for optimizing patient outcomes. Here the authors review the features, genetics, and treatment of Treacher Collins syndrome. PMID:23633935

  11. Syndrome in Question*

    PubMed Central

    Tonolli, Vanessa Mello; Stolf, Hamilton Ometto; Tonello, Cláudio Sampieri; Pires, Rafaelle Batistella; Abbade, Luciana Patricia Fernandes

    2014-01-01

    Hay-Wells syndrome or AEC (Ankyloblepharon, Ectodermal dysplasia and Cleft lip and palate syndrome) is a rare ectodermal disorder. The treatment is aimed to prevent clinical complications. We describe the case of a four-month old male patient with erosions on the scalp, trunk and arms, trachyonychia, deformity of the ears, micropenis, cleft palate, decreased eyebrow and eyelash hairs, in addition to antecedents of surgical correction of ankyloblepharon. The importance of the correct diagnosis is emphasized, besides the investigation of the associated diseases, treatment of complications and genetic counseling of the parents. PMID:24770526

  12. Stress in Families of Young Children with Down Syndrome, Williams Syndrome, and Smith-Magenis Syndrome.

    ERIC Educational Resources Information Center

    Fidler, Deborah J.; Hodapp, Robert M.; Dykens, Elizabeth M.

    2000-01-01

    Compared stress levels in families of children with Down syndrome (DS), Williams syndrome (WS), or Smith-Magenis syndrome (SMS). Found that DS families experienced less Pessimism than others and less Parent and Family Problems than SMS families. Strongest predictors of Parent and Family Problems were maladaptive behavior in SMS, younger age in DS,…

  13. Mental deficiency, alterations in performance, and CNS abnormalities in overgrowth syndromes.

    PubMed

    Cohen, M Michael

    2003-02-15

    Mental deficiency, alterations in performance, and central nervous system (CNS) abnormalities are discussed in the following overgrowth syndromes: Sotos syndrome, Weaver syndrome, Proteus syndrome, neurofibromatosis type 1, fragile X syndrome, syndromes with neonatal hypoglycemia, Simpson-Golabi-Behmel syndrome, hemihyperplasia, Sturge-Weber syndrome, Bannayan-Riley-Ruvalcaba/Cowden syndrome, macrocephaly-autism syndrome, PEHO syndrome, chromosomal syndromes, and other miscellaneous syndromes. PMID:12561058

  14. Periodic Fever: a review on clinical, management and guideline for Iranian patients - part I.

    PubMed

    Ahmadinejad, Zahra; Mansori, Sedigeh; Ziaee, Vahid; Alijani, Neda; Aghighi, Yahya; Parvaneh, Nima; Mordinejad, Mohammad-Hassan

    2014-02-01

    Periodic fever syndromes are a group of diseases characterized by episodes of fever with healthy intervals between febrile episodes. The first manifestation of these disorders are present in childhood and adolescence, but infrequently it may be presented in young and middle ages. Genetic base has been known for all types of periodic fever syndromes except periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA). Common periodic fever disorders are Familial Mediterranean fever (FMF) and PFAPA. In each patient with periodic fever, acquired infection with chronic and periodic nature should be ruled out. It depends on epidemiology of infectious diseases. Some of them such as Familial Mediterranean fever and PFAPA are common in Iran. In Iran and other Middle East countries, brucellosis, malaria and infectious mononucleosis should be considered in differential diagnosis of periodic fever disorders especially with fever and arthritis manifestation. In children, urinary tract infection may be presented as periodic disorder, urine analysis and culture is necessary in each child with periodic symptoms. Some malignancies such as leukemia and tumoral lesions should be excluded in patients with periodic syndrome and weight loss in any age. After excluding infection, malignancy and cyclic neutropenia, FMF and PFAPA are the most common periodic fever disorders. Similar to other countries, Hyper IgD, Chronic Infantile Neurologic Cutaneous and Articular, TRAPS and other auto-inflammatory syndromes are rare causes of periodic fever in Iranian system registry. In part 1 of this paper we reviewed the prevalence of FMF and PFAPA in Iran. In part 2, some uncommon auto-inflammatory disorders such as TRAPS, Hyper IgD sydrome and cryopyrin associated periodic syndromes will be reviewed. PMID:25793039

  15. Periodic Fever: A Review on Clinical, Management and Guideline for Iranian Patients - Part I

    PubMed Central

    Ahmadinejad, Zahra; Mansori, Sedigeh; Ziaee, Vahid; Alijani, Neda; Aghighi, Yahya; Parvaneh, Nima; Mordinejad, Mohammad-Hassan

    2014-01-01

    Periodic fever syndromes are a group of diseases characterized by episodes of fever with healthy intervals between febrile episodes. The first manifestation of these disorders are present in childhood and adolescence, but infrequently it may be presented in young and middle ages. Genetic base has been known for all types of periodic fever syndromes except periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA). Common periodic fever disorders are Familial Mediterranean fever (FMF) and PFAPA. In each patient with periodic fever, acquired infection with chronic and periodic nature should be ruled out. It depends on epidemiology of infectious diseases. Some of them such as Familial Mediterranean fever and PFAPA are common in Iran. In Iran and other Middle East countries, brucellosis, malaria and infectious mononucleosis should be considered in differential diagnosis of periodic fever disorders especially with fever and arthritis manifestation. In children, urinary tract infection may be presented as periodic disorder, urine analysis and culture is necessary in each child with periodic symptoms. Some malignancies such as leukemia and tumoral lesions should be excluded in patients with periodic syndrome and weight loss in any age. After excluding infection, malignancy and cyclic neutropenia, FMF and PFAPA are the most common periodic fever disorders. Similar to other countries, Hyper IgD, Chronic Infantile Neurologic Cutaneous and Articular, TRAPS and other auto-inflammatory syndromes are rare causes of periodic fever in Iranian system registry. In part 1 of this paper we reviewed the prevalence of FMF and PFAPA in Iran. In part 2, some uncommon auto-inflammatory disorders such as TRAPS, Hyper IgD sydrome and cryopyrin associated periodic syndromes will be reviewed. PMID:25793039

  16. De Clerambault Syndrome (Erotomania): A Review and Case Presentation

    PubMed Central

    Jordan, Harold W.; Howe, Gray

    1980-01-01

    A syndrome which was first described by G.G. De Clerambault in 1885 is reviewed and a case is presented. Popularly called erotomania, the syndrome is characterized by the delusional idea, usually in a young woman, that a man whom she considers to be of higher social and/or professional standing is in love with her. She develops an elaborate delusional process about this man, his love for her, his pursuit of her, and her inability to escape his “affectionate clutches.” This syndrome may persist for a period of a few weeks to a few months in the recurrent form and be replaced by a similar delusion about another man. In the fixed form, which is the example of the case being presented here, it may persist for several years. The patient presented here has experienced this syndrome for eight years; there are reports in the literature of persons maintaining the syndrome for longer than 25 years. Patients with this syndrome may be diagnosed as having paranoid vera or other forms of paranoid disorder, or as paranoid schizophrenic. In light of the overwhelming nature of the delusional process affecting this patient's total life experience with marked delusions of persecution, grandeur, jealously, and self-depreciation as well as ideas of reference (illusions), and agitated and sometimes bizarre behavior, it seems quite appropriate that her diagnosis may be termed schizophrenic reaction, paranoid type. The literature is surveyed in depth and the case is presented in sequential detail. PMID:6999163

  17. Rumination syndrome: a review of current concepts and treatments.

    PubMed

    Hejazi, Reza A; McCallum, Richard W

    2014-10-01

    Rumination is a normal and common phenomenon among ruminant animals; but in humans, it is always regarded as symptom indicative of abnormal function of the upper gastrointestinal tract, and understanding of the mechanisms explaining this event are still evolving. Learning-based theories, organic factors such as gastroesophageal reflux disease and psychological disturbances (eg, depression, anxiety) and the role of life stresses have been postulated as potential mechanisms of rumination. In this review, we take the approach that rumination syndrome is a distinct and discrete functional gastroduodenal disorder. We review current concepts of the pathophysiology of this entity and diagnostic approaches, then detail the treatment paradigms that have been pursued in rumination syndrome in adults. Patients with rumination syndrome have a very distinct set of symptoms. It was focused on the immediate postprandial period, but recently, there is an awareness of an expanding spectrum of the clinical presentation. This includes the concept of "conditioned vomiting" occurring in the setting of delayed gastric emptying (gastroparesis). Physicians' awareness of rumination syndrome is essential in the diagnosis and management of this disorder. Stress and psychological aspects in rumination syndrome are invariably in the background and have to be addressed. The crucial steps in the treatment strategy for rumination syndrome rely on reassurance, education and a physiologic explanation to the patient and family that this is not a "disease," followed by behavioral and relaxation programs and addressing stress factors. PMID:24642653

  18. Time-periodic universes

    E-print Network

    De-Xing Kong; Kefeng Liu; Ming Shen

    2008-08-30

    In this letter we construct a new time-periodic solution of the vacuum Einstein's field equations whose Riemann curvature norm takes the infinity at some points. We show that this solution is intrinsically time-periodic and describes a time-periodic universe with the "black hole". New physical phenomena are investigated and new singularities are analyzed for this universal model.

  19. The Periodic Pyramid

    ERIC Educational Resources Information Center

    Hennigan, Jennifer N.; Grubbs, W. Tandy

    2013-01-01

    The chemical elements present in the modern periodic table are arranged in terms of atomic numbers and chemical periodicity. Periodicity arises from quantum mechanical limitations on how many electrons can occupy various shells and subshells of an atom. The shell model of the atom predicts that a maximum of 2, 8, 18, and 32 electrons can occupy…

  20. Clinical signs of ICU syndrome/delirium: an observational study.

    PubMed

    Granberg-Axèll, A; Bergbom, I; Lundberg, D

    2001-04-01

    Some clinical signs of the intensive care unit (ICU) syndrome/delirium are probably known, but there may be additional signs that can be observed during the care of ICU patients. The aim of this study was to investigate and describe the clinical signs of the ICU syndrome in relation to patients' reactions and behaviour following the second day of their stay in an ICU. A total of 31 patients were observed during the weaning process and in the days following extubation. Informal dialogues between the patient and the observer, using parts of the questionnaire 'Organic Brain Syndrome Scale' were also carried out. The data was structured in a chronological order and consists of descriptions of patients' behaviour and reactions, together with events, occurrences and environmental circumstances. It was found that the patients showed a great variety of clinical signs that could be related to the ICU syndrome. Such signs were the quality, ability and divergence of speech; talking, movements, bodily position and facial expressions. Several patients also related unreal experiences only occasionally, while others experienced them during longer periods. The clinical signs did not seem to be separate phenomena but were inter-connected and part of a progression, and, therefore must be seen in the overall context and situation. Longer periods of observation and repeated interaction with patients are necessary in order to be aware of onset and clinical signs of the ICU syndrome. PMID:11817445

  1. Beckwith–Wiedemann syndrome

    PubMed Central

    Weksberg, Rosanna; Shuman, Cheryl; Beckwith, J Bruce

    2010-01-01

    Beckwith–Wiedemann syndrome (BWS) is a model disorder for the study of imprinting, growth dysregulation, and tumorigenesis. Unique observations in this disorder point to an important embryonic developmental window relevant to the observations of increased monozygotic twinning and an increased rate of epigenetic errors after subfertility/assisted reproduction. PMID:19550435

  2. Doege-Potter Syndrome.

    PubMed

    Ahluwalia, N; Attia, R; Green, A; Cane, P; Routledge, T

    2015-10-01

    Doege-Potter syndrome is a rare paraneoplastic syndrome presenting as a hypoinsulinaemic hypoglycaemia from the ectopic secretion of a prohormone of insulin-like growth factor II (IGF-II) from a solitary fibrous tumour. Surgical resection is curative in the majority of cases. If, however, the diagnosis is not suspected and treatment is delayed, it can lead to hypoxic cerebral injury or death. The underlying tumour can be a benign or malignant pleural tumour but may be present in extrapleural sites. For a diagnosis of Doege-Potter syndrome, symptoms attributable to hypoglycaemia and low blood glucose levels should be present along with the secretion of prohormone IGF-II. We report a case of severe hypoglycaemia in a 76-year-old inpatient admitted for resection of a recurrent left-sided pleural tumour. Investigation revealed true hypoglycaemia and Doege-Potter syndrome was diagnosed. The tumour was completely resected and the patient made a full recovery with no further hypoglycaemic episodes. PMID:26414372

  3. Tourette Syndrome: Classroom Implications

    ERIC Educational Resources Information Center

    Chaturvedi, Amrita; Gartin, Barbara C.; Murdick, Nikki L.

    2011-01-01

    Tourette Syndrome (TS) is a neurobiological disorder characterized by various involuntary motor movements and vocal tics. Symptoms of TS emerge between the ages of 3 to 8 years old, are most severe when an individual reaches puberty, and decrease by the time a person is 20 years old. Additionally, persons with TS may have secondary disabilities of…

  4. Sleep and epilepsy syndromes.

    PubMed

    Schmitt, Bernhard

    2015-06-01

    Sleep and epilepsy have a close relationship. About 20% of patients suffer seizures only during the night, approximately 40% only during the day and approximately 35% during the day and night. In certain epilepsy syndromes, the occurrence of seizures is strongly related to sleep or awakening. Infantile spasms appear predominately on awakening, and hypsarrhythmia is sometimes visible only in sleep. Children with Panayiotopoulos syndrome or benign epilepsy with centrotemporal spikes (BECTS) have seizures mostly when asleep, and in both syndromes interictal spike waves are markedly accentuated in slow wave sleep. Electrical status epilepticus during slow sleep/continuous spike wave discharges during sleep (ESES/CSWS), atypical benign partial epilepsy, and Landau-Kleffner syndrome are epileptic encephalopathies with substantial behavioral and cognitive deficits, various seizures, and continuous spike-wave activity during non-rapid eye movement (NREM) sleep. The hallmark of juvenile myoclonic epilepsy and grand mal seizures on awakening are seizure symptoms within 2 hours after awakening, often provoked by sleep deprivation. Nocturnal frontal lobe epilepsy is sometimes mistaken for parasomnia. Differentiation is possible when the clinical symptoms and the frequency of the paroxysmal events per night and month are carefully observed and nocturnal video electroencephalography (EEG) performed. Sleep EEG recordings may be helpful in patients with suspected epilepsy and nonconclusive awake EEG. Depending on the clinical question, sleep recordings should be performed during nap (natural sleep or drug induced), during the night, or after sleep deprivation. PMID:25965811

  5. Syndrome In Question*

    PubMed Central

    do Nascimento, Ana Cláudia Mendes; Gaspardo, Daniela Barros Cortez; Cortez, Tatiana Mimura; Miot, Hélio Amante

    2014-01-01

    The authors present a male 40-year-old patient with established diagnosis of Behçet's disease which had evolved to recurrent bilateral auricular polychondritis crises. MAGIC syndrome (mouth and genital ulcers with inflamed cartilage) is rare and groups together patients with this clinical picture without necessarily fulfilling the clinical criteria for Behçet's disease or relapsing polychondritis, demonstrating an independent disorder. PMID:24626673

  6. Tics and Tourette Syndrome

    MedlinePLUS

    ... the medicines used to treat Tourette syndrome may cause side effects. ... and around other kids? Is there a medicine that could help my child? Could my child also have attention-deficit hyperactivity disorder (ADHD)? Are there other therapies that could help ...

  7. Modelling Down Syndrome

    ERIC Educational Resources Information Center

    Buckley, Frank

    2008-01-01

    Animal models are extensively used in genetics, neuroscience and biomedical research. Recent studies illustrate the usefulness and the challenges of research utilising genetically engineered mice to explore the developmental biology of Down syndrome. These studies highlight many of the issues at the centre of what we understand about Down…

  8. Prader-Willi Syndrome

    ERIC Educational Resources Information Center

    Kundert, Deborah King

    2008-01-01

    Although known for its distinctive food-related behaviors, Prader-Willi syndrome is a multisystem disorder with genetic, developmental, and behavioral features. Two separate and distinct eating disorders are noted: initial feeding difficulties and failure to thrive, and later overeating. Additional outcomes observed with this disorder include…

  9. The Fetal Alcohol Syndrome.

    ERIC Educational Resources Information Center

    Umbreit, John; Ostrow, Lisa S.

    1980-01-01

    Fetal alcohol syndrome is a pattern of altered growth and morphogenesis found in about half the offspring of severely and chronically alcoholic women who continue drinking throughout their pregnancy. Of children studied, mild to moderate mental retardation was the most common disorder, occurring in 44 percent of the cases. (PHR)

  10. Sudden Infant Death Syndrome.

    ERIC Educational Resources Information Center

    Barnett, Henry L.; And Others

    There is a growing body of evidence that Sudden Infant Death Syndrome (SIDS) victims are not completely normal and healthy, as was once believed. A variety of new information from several disciplines strongly suggests that the infant who dies suddenly and unexpectedly may do so because of subtle developmental, neurologic, cardiorespiratory, and…

  11. Fetal Alcohol Syndrome.

    ERIC Educational Resources Information Center

    Zerrer, Peggy

    The paper reviews Fetal Alcohol Syndrome (FAS), a series of effects seen in children whose mothers drink alcohol to excess during pregnancy. The identification of FAS and its recognition as a major health problem in need of prevention are traced. Characteristics of children with FAS are described and resultant growth retardation, abnormal physical…

  12. Sheldon-Hall syndrome

    PubMed Central

    Toydemir, Reha M; Bamshad, Michael J

    2009-01-01

    Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate. Epidemiological data for the prevalence of SHS are not available, but less than 100 cases have been reported in the literature. Other common clinical features of SHS include prominent nasolabial folds, high arched palate, attached earlobes, mild cervical webbing, short stature, severe camptodactyly, ulnar deviation, and vertical talus and/or talipes equinovarus. Typically, the contractures are most severe at birth and non-progressive. SHS is inherited in an autosomal dominant pattern but about half the cases are sporadic. Mutations in either MYH3, TNNI2, or TNNT3 have been found in about 50% of cases. These genes encode proteins of the contractile apparatus of fast twitch skeletal muscle fibers. The diagnosis of SHS is based on clinical criteria. Mutation analysis is useful to distinguish SHS from arthrogryposis syndromes with similar features (e.g. distal arthrogryposis 1 and Freeman-Sheldon syndrome). Prenatal diagnosis by ultrasonography is feasible at 18–24 weeks of gestation. If the family history is positive and the mutation is known in the family, prenatal molecular genetic diagnosis is possible. There is no specific therapy for SHS. However, patients benefit from early intervention with occupational and physical therapy, serial casting, and/or surgery. Life expectancy and cognitive abilities are normal. PMID:19309503

  13. Fragile X Syndrome

    ERIC Educational Resources Information Center

    Schwarte, Andrea R.

    2008-01-01

    This article provides an overview of current research on Fragile X Syndrome, and how that knowledge can be used to guide successful intervention. The genetic etiology of Fragile X is reviewed and the physical, cognitive, adaptive, behavioral, and emotional phenotypes of children with the disorder are described, highlighting the differences in…

  14. IBMFS - Pearson Syndrome

    Cancer.gov

    Patients with Pearson Syndrome may have poor food absorption (malabsorption) and low white blood cell counts (neutropenia). Low red cell counts (anemia) can be a major problem, and low platelet counts (thrombocytopenia) can also occur. Symptoms are often present in infancy. Liver and kidney disease usually develop. Examination of the bone marrow under the microscope reveals characteristic holes ("vacuoles") in many cells.

  15. Milk-alkali syndrome

    MedlinePLUS

    Milk-alkali syndrome is a condition in which there is a high level of calcium in the body (hypercalcemia). This causes a shift in the body's acid/base balance toward alkaline (metabolic alkalosis). As a result, there can be a loss of kidney ...

  16. Facts about Tourette Syndrome

    MedlinePLUS

    ... families and hear about their experiences living with Attention-Deficit/Hyperactivity Disorder and Tourette Syndrome Watch the video » Tourette ... developmental condition. The two most common conditions are attention-deficit/hyperactivity disorder (ADHD) and obsessive-compulsive disorder (OCD). It is ...

  17. [Frailty and geriatric syndrome].

    PubMed

    Kozaki, Koichi

    2013-06-01

    Frailty comes from decline of functions in multi-organs, not a single organ dysfunction (disease). This accounts for comorbidity in the elderly, both in the acute and chronic ill conditions. In the Kyorin University Hospital, which have a role of emergency hospitals in the western area of Tokyo, more than seventy percent of the patients admitted to the geriatric ward are emergent cases. They have multi-diseases; the most frequent one is pneumonia(from aspiration). Often, their ADL is poor and have cognitive disorders, which is why they stay in the ward long. Geriatric syndrome indicates signs and symptoms frequently observed in the elderly. Because geriatric syndromes stem from multi-system dysfunction, they cannot be treated well enough. However, if geriatric syndromes are left untreated, the ADL declines in a steady state. Usually, geriatric syndromes cannot be treated by medication, but well-planned care can prevent progression. From this sense, not a medicine but multidisciplinary approach, such as cooperation with nurse, dietitian, PT, OT, pharmacist, social worker, care programmer and others, is the key to preventing elderly people from failing to the disabled state. PMID:23855198

  18. Postural orthostatic tachycardia syndrome.

    PubMed

    Agarwal, A K; Garg, R; Ritch, A; Sarkar, P

    2007-07-01

    Postural orthostatic tachycardia syndrome (POTS) is an autonomic disturbance which has become better understood in recent years. It is now thought to encompass a group of disorders that have similar clinical features, such as orthostatic intolerance, but individual distinguishing parameters--for example, blood pressure and pulse rate. The clinical picture, diagnosis, and management of POTS are discussed. PMID:17621618

  19. Munchausen syndrome and necrophilia.

    PubMed

    Faguet, R A

    1980-01-01

    Munchausen syndrome and necrophilia are uncommon disorders which do not appear to be related. It is suggested, however, that both of them center on "return to the womb" fantasies and may represent variants of each other. Specifically, the Munchausen patient's symptom triad (factitious illness, peregrination, pseudologia fantastica) is seen to reflect a wish for death and reunion with the maternal object. PMID:7466892

  20. What Causes Rett Syndrome?

    MedlinePLUS

    ... the early-onset seizure variant of Rett syndrome. Human Molecular Genetics , Jul 15;14(14), 1935–1946. Retrieved June ... report and review of literature. European Journal of Human Genetics , 17, 1577–1581. ... Clinical-Molecular Correlates. In G. Fisch (Ed.), Genetics and neurobehavioral ...

  1. Benign fasciculation syndrome.

    PubMed

    Walter, Thomas Robert

    2015-03-01

    Questions from patients about pain conditions, analgesic pharmacotherapy, and responses from authors are presented to help educate patients and make them more effective self-advocates. In reply to a question about benign fasciculation syndrome, the presentation, causes, treatment, and chances of developing amyotrophic lateral sclerosis will be discussed. PMID:25700216

  2. Recurrent hemolytic uremic syndrome

    PubMed Central

    Lakshminarayana, G.; Rajesh, R.; Jojo, A.; Kurian, G.; Unni, V. N.

    2008-01-01

    Hemolytic uremic syndrome (HUS) is an uncommon cause of acute renal failure. Diarrhea-associated (D+) HUS, usually seen in children, is a common variety of HUS. HUS that is not associated with diarrhea (D?) is caused by a heterogeneous group of disorders. We report here a case of recurrent HUS (D?) in an adult female with hypocomplementemia. PMID:20142920

  3. Amniotic band syndrome.

    PubMed

    Shetty, Prathvi; Menezes, Leo Theobald; Tauro, Leo Francis; Diddigi, Kumar Arun

    2013-10-01

    Amniotic band syndrome is an uncommon congenital disorder without any genetic or hereditary disposition. It involves fetal entrapment in strands of amniotic tissue and causes an array of deletions and deformations. Primary treatment is plastic and reconstructive surgery after birth with in utero fetal surgery also coming in vogue. PMID:24426485

  4. Venlafaxine withdrawal syndrome.

    PubMed

    Sablji?, Vladimir; Ruži?, Klementina; Rakun, Radmir

    2011-03-01

    Dual-action antidepressants serotonin-norepinephrine reuptake inhibitors (SRNIs) are widely used to treat depression. Owing to its efficiency and safety, venlafaxine holds a prominent place in this group of depressants. Abrupt venlafaxine discontinuation involves a high risk of withdrawal syndrome. Mechanism of its development is similar to that of selective serotonin reuptake inhibitors (SSRIs), but of higher intensity. Venlafaxine withdrawal symptoms may include several somatic symptoms as well as several psychiatric symptoms. In some cases, symptoms may look like a stroke. A treatment option is re-inclusion of venlafaxine or a SSRI antidepressant. The paper presents the case of a 70-year-old patient who discontinued of her own accord to take venlafaxine, which she had been taking regularly at a daily dose of 225 mg for more than a year. A few hours after taking the last dose, withdrawal syndrome occurred with severe symptoms resembling a stroke. The patient was examined by a neurologist and the CT and laboratory parameters showed no irregularities. Diagnosis was made after psychiatric observation. Venlafaxine, 150 mg per day, was prescribed, the symptoms disappeared relatively quickly, and the patient fully recovered. Withdrawal syndrome is a real risk for each venlafaxine treated patient. The possibility of its occurrence should be always kept in mind and patients should be timely informed about it. In this way, the risk of venlafaxine withdraw syndrome could be reduced, unnecessary stress to patients prevented and the costs of medical treatment lowered. PMID:21448114

  5. Dravet Syndrome History

    ERIC Educational Resources Information Center

    Dravet, Charlotte

    2011-01-01

    Severe myoclonic epilepsy of infancy (SMEI) is a complex form of epilepsy that was first described in France in 1978. Because the myoclonic component of this epilepsy is not always present and because some variability has been observed in the symptomatology, the name was changed to Dravet syndrome in 1989. The genetic aetiology of this epilepsy…

  6. Down Syndrome: Cognitive Phenotype

    ERIC Educational Resources Information Center

    Silverman, Wayne

    2007-01-01

    Down syndrome is the most prevalent cause of intellectual impairment associated with a genetic anomaly, in this case, trisomy of chromosome 21. It affects both physical and cognitive development and produces a characteristic phenotype, although affected individuals vary considerably with respect to severity of specific impairments. Studies…

  7. [Injury pattern and overuse stress syndrome in young sport climbers].

    PubMed

    Pfeifer, C; Messner, K; Scherer, R; Hochholzer, T

    2000-11-24

    The rapidly growing interest in sports climbing in recent years among young climbers raises the question about the risk of injuries and overstrain syndromes in this group. This paper investigates injuries and overstrain syndromes of 99 adolescent climbers aged between 8 and 19 years. The authors interviewed climbers from Austria, Germany and Switzerland. Besides the type and pattern of injuries and overstrain syndromes, the level and duration of climbing, intensity of training and gender were recorded as potential risk factors. 47 climbers were asked about setting up fingers on small holds, which is considered a main reason for epiphyseal injuries of fingers in the literature. Injuries and overstrain syndromes, as well as their frequency and pattern are reported and classified. Descriptive data analysis and statistical models are used to assess the influence of risk factors. Among the potential risk factors only the climbing level has a significant influence on the risk of injuries and overstrain syndromes (p = 0.0427). Furthermore the risk of injuries and overstrain syndromes in the area of the fingers is significantly higher for climbers who reported setting up fingers on small holds (OR = 8.24, p = 0.0022). Finally we found a higher frequency of injuries and overstrain syndromes in lower extremities (43% of all injury and overstrain occurrences) and a lower frequency of injuries and overstrain syndromes in general (43% of all the climbers under investigation) compared to other studies. As a result special guidelines for training and competition are given. In order to increase the accuracy of the reports and to investigate long-term effects we recommend a study with clinical assessment and a longer period of observation. PMID:11142134

  8. Metabolic syndrome in childhood.

    PubMed

    Crespo, Pablo Sanjurjo; Prieto Perera, Jose Angel; Lodeiro, Fernando Andrade; Azuara, Luis Aldámiz-Echevarría

    2007-10-01

    The so-called epidemic of childhood obesity has increased the interest in the metabolic syndrome (MS) due to the potential projection into adulthood. Prevalence of the MS in adolescents has been estimated to be 6.7% in young adults and 4.2% in adolescents. Figures rise up to 28.7% in overweight and obese adolescents. The most widely accepted hypothesis links the syndrome to obesity. In the Bogalusa study, the best predictors were obesity and being in the upper quartile of basal insulin levels. Ethnic and genetic factors play a role in order to explain the syndrome in the non-obese population and the differences of interobesity. The relationship between MS and type 2 diabetes and cardiovascular disease is well established in adults. This association can be suggested in children as well, although the syndrome in childhood urgently needs to be clearly defined. In this age group, it is also of great interest to identify diagnosis criteria of the so-called pre-MS. Detection of the syndrome focuses mainly on obese and overweight young people. Other population groups such as newborns with low or high birth weight, infants with accelerated growth, or children of obese or with gestational diabetes mothers are at a higher risk of developing peripheral insulin resistance. The measurement of abdominal circumference can be a useful screening tool. Physical exercise and restriction of saturated and trans fatty acids are basic for treatment. If reducing weight is necessary, a reduction of carbohydrate intake, especially for refined sugars, must be emphasised. Dietary fibre improves insulin sensitivity. PMID:17903319

  9. Occurrence of refeeding syndrome in adults started on artificial nutrition support: prospective cohort study

    PubMed Central

    Rio, Alan; Whelan, Kevin; Goff, Louise; Reidlinger, Dianne Patricia; Smeeton, Nigel

    2013-01-01

    Background Refeeding syndrome is a potentially life-threatening condition characterised by severe intracellular electrolyte shifts, acute circulatory fluid overload and organ failure. The initial symptoms are non-specific but early clinical features are severely low-serum electrolyte concentrations of potassium, phosphate or magnesium. Risk factors for the syndrome include starvation, chronic alcoholism, anorexia nervosa and surgical interventions that require lengthy periods of fasting. The causes of the refeeding syndrome are excess or unbalanced enteral, parenteral or oral nutritional intake. Prevention of the syndrome includes identification of individuals at risk, controlled hypocaloric nutritional intake and supplementary electrolyte replacement. Objective To determine the occurrence of refeeding syndrome in adults commenced on artificial nutrition support. Design Prospective cohort study. Setting Large, single site university teaching hospital. Recruitment period 2007–2009. Participants 243 adults started on artificial nutrition support for the first time during that admission recruited from wards and intensive care. Main outcome measures Primary outcome: occurrence of the refeeding syndrome. Secondary outcome: analysis of the risk factors which predict the refeeding syndrome. Tertiary outcome: mortality due to refeeding syndrome and all-cause mortality. Results 133 participants had one or more of the following risk factors: body mass index <16–18.5?(kg/m2), unintentional weight loss >15% in the preceding 3–6?months, very little or no nutritional intake >10?days, history of alcohol or drug abuse and low baseline levels of serum potassium, phosphate or magnesium prior to recruitment. Poor nutritional intake for more than 10?days, weight loss >15% prior to recruitment and low-serum magnesium level at baseline predicted the refeeding syndrome with a sensitivity of 66.7%: specificity was >80% apart from weight loss of >15% which was 59.1%. Baseline low-serum magnesium was an independent predictor of the refeeding syndrome (p=0.021). Three participants (2% 3/243) developed severe electrolyte shifts, acute circulatory fluid overload and disturbance to organ function following artificial nutrition support and were diagnosed with refeeding syndrome. There were no deaths attributable to the refeeding syndrome, but (5.3% 13/243) participants died during the feeding period and (28% 68/243) died during hospital admission. Death of these participants was due to cerebrovascular accident, traumatic injury, respiratory failure, organ failure or end-of-life causes. Conclusions Refeeding syndrome was a rare, survivable phenomenon that occurred during hypocaloric nutrition support in participants identified at risk. Independent predictors for refeeding syndrome were starvation and baseline low-serum magnesium concentration. Intravenous carbohydrate infusion prior to artificial nutrition support may have precipitated the onset of the syndrome. PMID:23315514

  10. [HYPP--hyperkalemic periodic paralysis in horses].

    PubMed

    Zeilmann, M

    1993-12-01

    A literature review of the clinical syndrome HYPP (Hyperkalemic periodic paralysis) affecting Quarter Horses is given. HYPP is characterized by sporadic attacks of muscle tremors, weakness and/or collapse, lasting for variable periods of time. Diagnosis is based on physical findings in association with hyperkalemia. In horses with HYPP, the regulation of ion transport through the sodium channels in the muscle cells occasionally fails, causing uncontrollable muscle twitching. Further investigations into molecular genetics reveals a mutation in the gene responsible for sodium and potassium regulation. The identification of this gene mutation is the basis for the blood test used to diagnose HYPP. HYPP is inherited as an autosomal dominant trait. Treatment of HYPP attacks by intravenous application of calcium gluconate, bicarbonate and glucose results in rapid recovery. Consequent dietary management and daily administration of acetazolamide effectively controls the disease. PMID:8122239

  11. Zollinger-Ellison syndrome: special considerations.

    PubMed Central

    Hardy, J D; Doolittle, P D

    1977-01-01

    Twelve patients with Zollinger-Ellison syndrome and one patient with WDHA syndrome are reviewed. Three of the Z-E patients exhibited MEA, two having hyperinsulinism and one hyperparathyroidism. Ages ranged from nine to 71 years. Diagnosis of Z-E syndrome was established from history, gastric acid secretion, radiologic studies, serum gastrin measurements and from actual tissue biopsy in 10 of the 12 patients. Total gastrectomy was performed in 8 of the 12 Z-E patients, with abolition of the ulcer diathesis in all. However, in none of our patients was there objective evidence of subsequent tumor regression. Three patients remain alive. Four died of tumor, one from post-total gastrectomy complications, one from post-subtotal gastrectomy in another hospital, two from ulcer hemorrhage, and one from electrolyte imbalance with autopsy diagnosis of Z-E tumor. A patient is recorded in detail who exhibited both hyperinsulinemia and hypergastrinemia from a malignant islet cell tumor, had the tumor "debulked" four times over a 14 year period and whose hepatic metastases were temporarily abolished by streptozotocin infusion. The question is raised regarding relationships between chronic organic hyperinsulinism and subsequent hypergastrinemia. PMID:140631

  12. Are numerical impairments syndrome specific? Evidence from Williams syndrome and Down's

    E-print Network

    Butterworth, Brian

    Are numerical impairments syndrome specific? Evidence from Williams syndrome and Down's syndrome disorders, Williams syndrome and Down's syndrome, which differ in their relative abilities in verbal versus. Rather, the development process itself must be taken into account. Keywords: Williams syndrome, Down

  13. Reye's syndrome in children under three years old.

    PubMed Central

    Bellman, M H; Ross, E M; Miller, D L

    1982-01-01

    The National Childhood Encephalopathy Study identified 37 cases of Reye's syndrome in children aged between 2 and 36 months in a 3-year period, giving an estimated incidence in Great Britain of 0.7/100 000 children a year. The diagnostic features were neither consistently positive in these cases, nor negative in 11 others later considered not to have Reye's syndrome. The prognosis was poor; the fatality rate was 46%, and 60% of the survivors were handicapped. A surveillance scheme to investigate pathological, clinical, and epidemiological factors in this rare condition is required. This has now been set up in the UK. PMID:7082037

  14. Pneumothorax as the initial manifestation of idiopathic hypereosinophilic syndrome.

    PubMed

    Wang, Yu-Bing; Han, Ya-Juan; Uchida, Kenzo; Zhao, Bing-Cheng; Chen, Ke-Bing; Ma, Wei-Ying; Xie, Feng-Jiao; Liu, Tie-Lian; Zhang, Li-Xi

    2014-11-01

    We report a case of hypereosinophilic syndrome in a 47-year-old man who had acute pneumothorax as the initial presentation. Peripheral blood eosinophil count increased continuously over a period of 1 month and was associated with pulmonary changes and appearance of skin lesions on the right chest wall. Idiopathic hypereosinophilic syndrome was confirmed by bone marrow aspiration biopsy and skin lesion biopsy after exclusion of all possible secondary etiologies. The clinical status and chest radiographs showed marked improvement after treatment with corticosteroids. PMID:25441802

  15. Neonatal Hepatitis as First Manifestation of Hyperimmunoglobulinemia D Syndrome

    PubMed Central

    Rosenfeldt, Vibeke

    2014-01-01

    Hyper IgD syndrome (HIDS) is a rare metabolic autoinflammatory syndrome characterised by recurrent febrile episodes, accompanied by various inflammatory symptoms. We present a case of severe HIDS in a young girl, whose symptoms started in the neonatal period with hepatomegaly, hepatitis, thrombocytopenia, and conjugated hyperbilirubinemia. From the age of five months, the child had recurrent febrile episodes, stomatitis, adenitis, and persistent hepatomegaly. The diagnosis of HIDS was established when she was three years and eight months old. This case report suggests that HIDS should be included in the differential diagnosis of neonatal hepatitis and conjugated hyperbilirubinemia. PMID:24716072

  16. Neonatal hepatitis as first manifestation of hyperimmunoglobulinemia d syndrome.

    PubMed

    von Linstow, Marie-Louise; Rosenfeldt, Vibeke

    2014-01-01

    Hyper IgD syndrome (HIDS) is a rare metabolic autoinflammatory syndrome characterised by recurrent febrile episodes, accompanied by various inflammatory symptoms. We present a case of severe HIDS in a young girl, whose symptoms started in the neonatal period with hepatomegaly, hepatitis, thrombocytopenia, and conjugated hyperbilirubinemia. From the age of five months, the child had recurrent febrile episodes, stomatitis, adenitis, and persistent hepatomegaly. The diagnosis of HIDS was established when she was three years and eight months old. This case report suggests that HIDS should be included in the differential diagnosis of neonatal hepatitis and conjugated hyperbilirubinemia. PMID:24716072

  17. Atypical hemolytic uremic syndrome

    PubMed Central

    2011-01-01

    Hemolytic uremic syndrome (HUS) is defined by the triad of mechanical hemolytic anemia, thrombocytopenia and renal impairment. Atypical HUS (aHUS) defines non Shiga-toxin-HUS and even if some authors include secondary aHUS due to Streptococcus pneumoniae or other causes, aHUS designates a primary disease due to a disorder in complement alternative pathway regulation. Atypical HUS represents 5 -10% of HUS in children, but the majority of HUS in adults. The incidence of complement-aHUS is not known precisely. However, more than 1000 aHUS patients investigated for complement abnormalities have been reported. Onset is from the neonatal period to the adult age. Most patients present with hemolytic anemia, thrombocytopenia and renal failure and 20% have extra renal manifestations. Two to 10% die and one third progress to end-stage renal failure at first episode. Half of patients have relapses. Mutations in the genes encoding complement regulatory proteins factor H, membrane cofactor protein (MCP), factor I or thrombomodulin have been demonstrated in 20-30%, 5-15%, 4-10% and 3-5% of patients respectively, and mutations in the genes of C3 convertase proteins, C3 and factor B, in 2-10% and 1-4%. In addition, 6-10% of patients have anti-factor H antibodies. Diagnosis of aHUS relies on 1) No associated disease 2) No criteria for Shigatoxin-HUS (stool culture and PCR for Shiga-toxins; serology for anti-lipopolysaccharides antibodies) 3) No criteria for thrombotic thrombocytopenic purpura (serum ADAMTS 13 activity > 10%). Investigation of the complement system is required (C3, C4, factor H and factor I plasma concentration, MCP expression on leukocytes and anti-factor H antibodies; genetic screening to identify risk factors). The disease is familial in approximately 20% of pedigrees, with an autosomal recessive or dominant mode of transmission. As penetrance of the disease is 50%, genetic counseling is difficult. Plasmatherapy has been first line treatment until presently, without unquestionable demonstration of efficiency. There is a high risk of post-transplant recurrence, except in MCP-HUS. Case reports and two phase II trials show an impressive efficacy of the complement C5 blocker eculizumab, suggesting it will be the next standard of care. Except for patients treated by intensive plasmatherapy or eculizumab, the worst prognosis is in factor H-HUS, as mortality can reach 20% and 50% of survivors do not recover renal function. Half of factor I-HUS progress to end-stage renal failure. Conversely, most patients with MCP-HUS have preserved renal function. Anti-factor H antibodies-HUS has favourable outcome if treated early. PMID:21902819

  18. [Kabuki syndrome, a congenital syndrome with multiple anomalies].

    PubMed

    den Biggelaar, A M; Kuijpers-Jagtman, A M; Bergé, S J; Katsaros, C

    2006-12-01

    The characteristics of a 5-years old girl, referred to a multidisciplinary team for cleft lip and palate because of speaking problems, were diagnosed as Kabuki syndrome. The Kabuki syndrome is a congenital syndrome of unknown aetiology, diagnosed based on a combination of clinical findings. It is characterised by distinctive facial features, skeletal anomalies, dermatoglyphic abnormalities, developmental delay and mild to moderate mental retardation. Children with the syndrome often have oral manifestations such as cleft palate, missing permanent teeth and conic crowns of upper incisors. The Kabuki syndrome was first described regarding the Japanese population but it is now known to occur in many other races as well. In a recent publication, 20 Dutch patients with Kabuki syndrome were described. PMID:17193989

  19. Stability and Change in Health, Functional Abilities, and Behavior Problems among Adults with and without Down Syndrome

    ERIC Educational Resources Information Center

    Esbensen, Anna J.; Seltzer, Marsha Mailick; Krauss, Marty Wyngaarden

    2008-01-01

    Changes in health, functional abilities, and behavior problems among 150 adults with Down syndrome and 240 adults with mental retardation due to other causes were examined with seven assessments over a 9-year period. Adults were primarily younger than 40, the age at which declines begin to be evident in individuals with Down syndrome. Adults with…

  20. Menstrual preconditioning for the prevention of major obstetrical syndromes in polycystic ovary syndrome.

    PubMed

    Brosens, Ivo; Benagiano, Giuseppe

    2015-10-01

    The presence of multiple ovarian cysts, anovulation, and endometrial progesterone resistance in the neonate seems remarkably similar to ovarian and endometrial features of the polycystic ovary syndrome (PCOS) of adolescent and adult women. In fact, in the absence of cyclic menstruations after menarche, the neonatal progesterone resistance is likely to persist and adversely affect young women with PCOS at the time of pregnancy after induction of ovulation, because any persisting defect in progesterone response can interfere with the process of decidualization and trophoblast invasion. The primigravid woman with PCOS therefore is likely to be at risk of defective deep placentation as manifested by the increased risk of major obstetric syndromes. A recent, large epidemiologic study has demonstrated that the risk of preeclampsia and preterm delivery is elevated in the 13- to 15-year old group, although it does not persist in the 16- to 17-year old group. It is proposed therefore that induction of ovulation in the infertile nulligravid woman with PCOS should be preceded by a period of progesterone withdrawal bleedings to achieve full endometrial progesterone response by the time of pregnancy. The cyclic administration of clomiphene citrate for a period to be determined by vascular response may be an appropriate tool to reduce the risk of major obstetric syndromes by menstrual preconditioning. PMID:26212182

  1. Ganser-like Syndrome After Loss of Psychic Self-activation Syndrome: Psychogenic or Organic?

    PubMed Central

    Kaphan, Elsa; Barbeau, Emmanuel; Royère, Marie L.; Guedj, Eric; Pelletier, Jean; Ali Chérif, André

    2014-01-01

    Very few data are available on the long-term changes in the cognitive abilities of patients with loss of psychic self-activation syndrome (LPSAS). Here, we present a 25-year follow-up study on a case of LPSAS resulting from bilateral pallidal lesions caused by carbon monoxide intoxication. Typical signs of LPSAS were observed, showing no changes in severity, but Ganser syndrome (GS) gradually developed and worsened during the follow-up period. GS is generally assumed to be a psychogenic syndrome, but an organic etiology has been suspected by the authors of several case reports. Here, atypical features of GS plead against the independence of GS and LPSAS. DaTSCAN and brain 18FDG-PET were performed. Since left hippocampal hypometabolism has been previously described in patients with functional amnesia, it is possible that long periods of mental inactivity may have psychological consequences, but the atypical features of GS also suggest that an organic mechanism may be involved. PMID:25280796

  2. Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome)

    PubMed Central

    Koul, Monika; Dwivedi, Rahul; Upadhyay, Vinod

    2014-01-01

    Ectrodactyly-ectodermal dysplasia- clefting syndrome (also k/a. split hand- split foot malformation /split hand-split foot ectodermal dysplasia- cleft syndrome/ectodermal dysplasia cleft lip/cleft palate syndrome) a rare form of ectodermal dysplasia, is an autosomal dominant disorder inherited as a genetic trait and characterized by a triad of (i) ectrodactyly, (ii) ectodermal dysplasia and, (iii) & facial clefts. PMID:25737931

  3. Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome).

    PubMed

    Koul, Monika; Dwivedi, Rahul; Upadhyay, Vinod

    2014-01-01

    Ectrodactyly-ectodermal dysplasia- clefting syndrome (also k/a. split hand- split foot malformation /split hand-split foot ectodermal dysplasia- cleft syndrome/ectodermal dysplasia cleft lip/cleft palate syndrome) a rare form of ectodermal dysplasia, is an autosomal dominant disorder inherited as a genetic trait and characterized by a triad of (i) ectrodactyly, (ii) ectodermal dysplasia and, (iii) & facial clefts. PMID:25737931

  4. Dangerous triplet: Polycystic ovary syndrome, oral contraceptives and Kounis syndrome

    PubMed Central

    Erol, Nurdan; Karaagac, Aysu Turkmen; Kounis, Nicholas G

    2014-01-01

    Polycystic ovary syndrome is characterized by ovulatory dysfunction, androgen excess and polycystic ovaries and is associated with hypertension, diabetes, metabolic syndrome and cardiovascular events. Oral contraceptives constitute ?rst-line treatment, particularly when symptomatic hyperandrogenism is present. However, these drugs are associated with cardiovascular events and hypersensitivity reactions that pose problem in differential diagnosis and therapy. We present a 14 year-old female with polycystic ovary syndrome taking oral contraceptive and suffering from recurrent coronary ischemic attacks with increased eosinophils, and troponin levels suggesting Kounis syndrome. PMID:25548619

  5. Polycystic ovary syndrome and metabolic syndrome: the worrisome twosome?

    PubMed

    Shah, D; Rasool, S

    2016-02-01

    By virtue of insulin resistance being the common etiology for polycystic ovary syndrome (PCOS) and metabolic syndrome, the cardiometabolic risks of these two syndromes are shared. The usual concerns of a PCOS patient are cosmetic or reproductive. However, there are more serious concerns past the reproductive age. Early treatment of insulin resistance, hypertension and hyperlipidemia reduces the long-term risk. This review highlights the unhealthy association of metabolic syndrome with PCOS and emphasizes the importance of early diagnosis, patient education and long-term follow-up beyond the reproductive age into menopause to prevent the long-term serious co-morbidities. PMID:26624567

  6. [Recovery of Cushing syndrome revealing McCune-Albright syndrome].

    PubMed

    Halioui-Louhaichi, S; Dridi, Y; Azzabi, O; Selmi, I; Fetni, I; Siala, N; Maherzi, A

    2016-01-01

    Cushing syndrome (CS) is a rare feature of McCune-Albright syndrome. Treatments consist of bilateral adrenalectomy followed by lifelong glucocorticoid and mineralocorticoid treatment. However, cases of spontaneous remission of CS have been reported in the literature. We report a case of McCune-Albright syndrome with CS treated with metyrapone for 30 months with prolonged remission after a 12-year follow-up. Adrenalectomy may be avoided in some cases of CS caused by McCune-Albright syndrome. Metyrapone could be a good alternative to surgical treatment. PMID:26552628

  7. Metabolic syndrome and polycystic ovary syndrome: an intriguing overlapping.

    PubMed

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

    2014-06-01

    Metabolic syndrome is an increasing pathology in adults and in children, due to a parallel rise of obesity. Sedentary lifestyle, food habits, cultural influences and also a genetic predisposition can cause dyslipidemia, hypertension, abdominal obesity and insulin resistance which are the two main features of metabolic syndrome. Polycystic ovary syndrome (PCOS) is a condition directly associated with obesity, insulin resistance (HOMA index) and metabolic syndrome, and it is very interesting for its relationship and overlap with the metabolic syndrome. The relationship between the two syndromes is mutual: PCOS women have a higher prevalence of metabolic syndrome and also women with metabolic syndrome commonly present the reproductive/endocrine trait of PCOS. Prevention and treatment of metabolic syndrome and PCOS are similar for various aspects. It is necessary to treat excess adiposity and insulin resistance, with the overall goals of preventing cardiovascular disease and type 2 diabetes and improving reproductive failure in young women with PCOS. First of all, lifestyle changes, then pharmacological therapy, bariatric surgery and laparoscopic ovarian surgery represent the pillars for PCOS treatment. PMID:24552422

  8. Paraneoplastic syndromes in olfactory neuroblastoma

    PubMed Central

    Gabrych, Anna; Czapiewski, Piotr; Sworczak, Krzysztof

    2015-01-01

    Olfactory neuroblastoma (ONB) is a rare malignant neoplasm of sinonasal tract, derived from olfactory epithelium. Unilateral nasal obstruction, epistaxis, sinusitis, and headaches are common symptoms. Olfactory neuroblastoma shows neuroendocrine differentiation and similarly to other neuroendocrine tumors can produce several types of peptic substances and hormones. Excess production of these substances can be responsible for different types of endocrinological paraneoplastic syndromes (PNS). Moreover, besides endocrinological, in ONB may also occur neurological PNS, caused by immune cross-reactivity between tumor and normal host tissues in the nervous system. Paraneoplastic syndromes in ONB include: syndrome of inappropriate ADH secretion (SIADH), ectopic ACTH syndrome (EAS), humoral hypercalcemia of malignancy (HHM), hypertension due to catecholamine secretion by tumor, opsoclonus-myoclonus-ataxia (OMA) and paraneoplastic cerebellar degeneration. Paraneoplastic syndromes in ONB tend to have atypical features, therefore diagnosis may be difficult. In this review, we described initial symptoms, patterns of presentation, treatment and outcome of paraneoplastic syndromes in ONB, reported in the literature. PMID:26199564

  9. Meningitis-Retention Syndrome

    PubMed Central

    Basoulis, Dimitrios; Mylona, Maria; Toskas, Pantelis; Tsilingiris, Dimitris; Fytili, Christina

    2015-01-01

    Meningitis-retention syndrome (MRS) is a clinical entity that has recently appeared in the literature. We present the case of a 22-year-old man with fever and headache who, in the course of his hospitalization with a diagnosis of aseptic meningitis, developed acute urinary retention. Fewer than 30 such cases have been described and in several of them, no clear associations with other disorders have been made. In some cases, direct association with viral infection has been proved, and in others, there are indications of an underlying demyelinating condition. To further complicate the issue, various conditions such as Elsberg syndrome and acute disseminated encephalomyelitis, which not only have some similarities but also have some distinct differences, have been placed under the umbrella definition of MRS. In our review, we attempt to address these conditions and better define MRS by establishing diagnostic criteria based on what has thus far been described in the literature.

  10. Postconcussion Syndrome: A Review.

    PubMed

    Barlow, Karen M

    2016-01-01

    Postconcussion syndrome is a symptom complex with a wide range of somatic, cognitive, sleep, and affective features, and is the most common consequence of traumatic brain injury. Between 14% and 29% of children with mild traumatic brain injury will continue to have postconcussion symptoms at 3 months, but the pathophysiological mechanisms driving this is poorly understood. The relative contribution of injury factors to postconcussion syndrome decreases over time and, instead, premorbid factors become important predictors of symptom persistence by 3 to 6 months postinjury. The differential diagnoses include headache disorder, cervical injury, anxiety, depression, somatization, vestibular dysfunction, and visual dysfunction. The long-term outcome for most children is good, although there is significant morbidity in the short term. Management strategies target problematic symptoms such as headaches, sleep and mood disturbances, and cognitive complaints. PMID:25330797

  11. Nijmegen breakage syndrome (NBS)

    PubMed Central

    2012-01-01

    Nijmegen breakage syndrome (NBS) is a rare autosomal recessive syndrome of chromosomal instability mainly characterized by microcephaly at birth, combined immunodeficiency and predisposition to malignancies. Due to a founder mutation in the underlying NBN gene (c.657_661del5) the disease is encountered most frequently among Slavic populations. The principal clinical manifestations of the syndrome are: microcephaly, present at birth and progressive with age, dysmorphic facial features, mild growth retardation, mild-to-moderate intellectual disability, and, in females, hypergonadotropic hypogonadism. Combined cellular and humoral immunodeficiency with recurrent sinopulmonary infections, a strong predisposition to develop malignancies (predominantly of lymphoid origin) and radiosensitivity are other integral manifestations of the syndrome. The NBN gene codes for nibrin which, as part of a DNA repair complex, plays a critical nuclear role wherever double-stranded DNA ends occur, either physiologically or as a result of mutagenic exposure. Laboratory findings include: (1) spontaneous chromosomal breakage in peripheral T lymphocytes with rearrangements preferentially involving chromosomes 7 and 14, (2) sensitivity to ionizing radiation or radiomimetics as demonstrated in vitro by cytogenetic methods or by colony survival assay, (3) radioresistant DNA synthesis, (4) biallelic hypomorphic mutations in the NBN gene, and (5) absence of full-length nibrin protein. Microcephaly and immunodeficiency are common to DNA ligase IV deficiency (LIG4 syndrome) and severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation due to NHEJ1 deficiency (NHEJ1 syndrome). In fact, NBS was most commonly confused with Fanconi anaemia and LIG4 syndrome. Genetic counselling should inform parents of an affected child of the 25% risk for further children to be affected. Prenatal molecular genetic diagnosis is possible if disease-causing mutations in both alleles of the NBN gene are known. No specific therapy is available for NBS, however, hematopoietic stem cell transplantation may be one option for some patients. Prognosis is generally poor due to the extremely high rate of malignancies. Zespó? Nijmegen (Nijmegen breakage syndrome; NBS) jest rzadkim schorzeniem z wrodzon? niestabilno?ci? chromosomow? dziedzicz?cym si? w sposób autosomalny recesywny, charakteryzuj?cym si? przede wszystkim wrodzonym ma?og?owiem, z?o?onymi niedoborami odporno?ci i predyspozycj? do rozwoju nowotworów. Choroba wyst?puje najcz??ciej w populacjach s?owia?skich, w których uwarunkowana jest mutacj? za?o?ycielsk? w genie NBN (c.657_661del5). Do najwa?niejszych objawów zespo?u zalicza si?: ma?og?owie obecne od urodzenia i post?puj?ce z wiekiem, charakterystyczne cechy dysmorfii twarzy, opó?nienie wzrastania, niepe?nosprawno?? intelektualn? w stopniu lekkim do umiarkowanego oraz hipogonadyzm hipogonadotropowy u dziewcz?t. Na obraz choroby sk?adaj? si? tak?e: niedobór odporno?ci komórkowej i humoralnej, który jest przyczyn? nawracaj?cych infekcji, znaczna predyspozycja do rozwoju nowotworów z?o?liwych (zw?aszcza uk?adu ch?onnego), a tak?e zwi?kszona wra?liwo?? na promieniowanie jonizuj?ce. Wyniki bada? laboratoryjnych wykazuj?: (1) spontaniczn? ?amliwo?? chromosomów w limfocytach T krwi obwodowej, z preferencj? do rearan?acji chromosomów 7 i 14, (2) nadwra?liwo?? na promieniowanie jonizuj?ce lub radiomimetyki, co mo?na wykaza? metodami in vitro, (3) radiooporno?? syntezy DNA, (4) hipomorficzne mutacje na obu allelach genu NBN, oraz (5) brak w komórkach

  12. Microdeletion and Microduplication Syndromes

    PubMed Central

    Mrasek, Kristin; Klein, Elisabeth; Mulatinho, Milene; Llerena, Juan C.; Hardekopf, David; Pekova, Sona; Bhatt, Samarth; Kosyakova, Nadezda; Liehr, Thomas

    2012-01-01

    The widespread use of whole genome analysis based on array comparative genomic hybridization in diagnostics and research has led to a continuously growing number of microdeletion and microduplication syndromes (MMSs) connected to certain phenotypes. These MMSs also include increasing instances in which the critical region can be reciprocally deleted or duplicated. This review catalogues the currently known MMSs and the corresponding critical regions including phenotypic consequences. Besides the pathogenic pathways leading to such rearrangements, the different detection methods and their limitations are discussed. Finally, the databases available for distinguishing between reported benign or pathogenic copy number alterations are highlighted. Overall, a review of MMSs that previously were also denoted “genomic disorders” or “contiguous gene syndromes” is given. PMID:22396478

  13. Prader-Willi syndrome.

    PubMed Central

    Cassidy, S B

    1997-01-01

    Prader-Willi syndrome is a complex disorder affecting multiple systems with many manifestations relating to hypothalamic insufficiency. Major findings include infantile hypotonia, developmental delay and mental retardation, behaviour disorder, characteristic facial appearance, obesity, hypogonadism, and short stature. Obesity and the behavioural problems are the major causes of morbidity and mortality. Prader-Willi syndrome is caused by abnormalities of the imprinted region of proximal 15q and results from absence of the normally active paternal genes in this region. Such absence results from paternal interstitial deletion, maternal uniparental disomy, or a mutation or other abnormality in the imprinting process. Diagnostic identification of all causes has become available in recent years, permitting early detection and institution of appropriate management. This testing has permitted recent identification of some phenotypic differences among affected subjects of different race and between those with deletions and uniparental disomy as a cause. Images PMID:9391886

  14. [Sturge-Weber syndrome].

    PubMed

    Reith, W; Yilmaz, U; Zimmer, A

    2013-12-01

    Sturge-Weber syndrome (SWS) is a rare congenital disease which affects the brain, the skin and the eyes. It is a sporadically occurring neurocutaneous syndrome affecting the intracerebral veins (venous angiomatosis). The frequency is estimated to be 1 in 50,000 births [1]. The main symptom is intracranial leptomeningeal angiomatosis which mostly affects the occipital and posterior parietal lobes and can occur unilaterally and also bilaterally. Facial cutaneous vascular alterations occur ipsilaterally in the form of port wine stains (nevus flammeus) which are normally found in the catchment area of the trigeminal branch VI. Other clinical symptoms associated with SWS are seizures, glaucoma, headaches, transient neurological stroke-like episodes and cognitive impairment. Neurological cortical symptoms often include hemiparesis, hemiatrophy and hemianopsia. PMID:24292369

  15. Is It Antiphospholipid Syndrome?

    PubMed Central

    Ditto, Maria Chiara; Antivalle, Marco; Badini, Matteo; Battellino, Michele; Cogliati, Chiara; Sarzi-Puttini, Piercarlo

    2010-01-01

    The diagnosis of bacterial endocarditis remains a challenge, as nearly half of cases develop in the absence of preexistent heart disease and known risk factors. Not infrequently, a blunted clinical course at onset can lead to erroneous diagnoses. We present the case of a 47-year-old previously healthy man in which a presumptive diagnosis of antiphospholipid syndrome was made based on the absence of echocardiographically detected heart involvement, a negative blood culture, normal C-reactive protein (CRP) levels, a positive lupus anticoagulant (LAC) test, and evidence of splenic infarcts. The patient eventually developed massive aortic endocarditic involvement, with blood cultures positive for Streptococcus bovis, and was referred for valvular replacement. This case not only reminds us of the diagnostic challenges of bacterial endocarditis, but also underlines the need for a critical application of antiphospholipid syndrome diagnostic criteria. PMID:21318137

  16. Genetics Home Reference: Osteoporosis-pseudoglioma syndrome

    MedlinePLUS

    ... PubMed Recent literature OMIM Genetic disorder catalog Conditions > Osteoporosis-pseudoglioma syndrome On this page: Description Genetic changes ... names Glossary definitions Reviewed January 2013 What is osteoporosis-pseudoglioma syndrome? Osteoporosis-pseudoglioma syndrome is a rare ...

  17. Genetics Home Reference: Acral peeling skin syndrome

    MedlinePLUS

    ... literature OMIM Genetic disorder catalog Conditions > Acral peeling skin syndrome On this page: Description Genetic changes Inheritance ... definitions Reviewed April 2014 What is acral peeling skin syndrome? Acral peeling skin syndrome is a skin ...

  18. Genetics Home Reference: Smith-Magenis syndrome

    MedlinePLUS

    ... PubMed Recent literature OMIM Genetic disorder catalog Conditions > Smith-Magenis syndrome On this page: Description Genetic changes ... names Glossary definitions Reviewed December 2013 What is Smith-Magenis syndrome? Smith-Magenis syndrome is a developmental ...

  19. Genetics Home Reference: Hyperferritinemia-cataract syndrome

    MedlinePLUS

    ... Recent literature OMIM Genetic disorder catalog Conditions > Hyperferritinemia-cataract syndrome On this page: Description Genetic changes Inheritance ... Glossary definitions Reviewed August 2012 What is hyperferritinemia-cataract syndrome? Hyperferritinemia-cataract syndrome is a disorder characterized ...

  20. Genetics Home Reference: Dubin-Johnson syndrome

    MedlinePLUS

    ... Recent literature OMIM Genetic disorder catalog Conditions > Dubin-Johnson syndrome On this page: Description Genetic changes Inheritance ... Glossary definitions Reviewed March 2009 What is Dubin-Johnson syndrome? Dubin-Johnson syndrome is a condition characterized ...

  1. Prader-Willi Syndrome: Other FAQs

    MedlinePLUS

    ... should be considered. 1 Inheritance of PWS and Angelman Syndrome PWS could affect the offspring of someone ... risk of being born with PWS or with Angelman syndrome . Angelman syndrome, like PWS, results from defects ...

  2. Genetics Home Reference: Pitt-Hopkins syndrome

    MedlinePLUS

    ... Males with Pitt-Hopkins syndrome may have undescended testes (cryptorchidism). How common is Pitt-Hopkins syndrome? Pitt- ... cells ; short stature ; spectrum ; sperm ; stature ; strabismus ; syndrome ; testes ; transcription ; transcription factor You may find definitions for ...

  3. Current status of familial gastrointestinal polyposis syndromes

    PubMed Central

    Jung, Ioan; Gurzu, Simona; Turdean, Gligore Sabin

    2015-01-01

    Because of the rarity of familial gastrointestinal cancer-predisposing syndromes, their exploration in literature is not extensive. In this review, an update of the clinicopathological and molecular criteria of gastrointestinal familial polyposis syndromes with potential malignant transformation is performed. In addition, a guide for screening and surveillance was synthesized and a distribution of gene mutations according to the specific syndromes and geographic distribution was included. The following inherited polyposes syndromes were analyzed: familial adenomatous polyposis, the hamartomatous familial polyposes (Juvenile polyposis, Peutz-Jeghers syndrome, Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, hereditary mixed polyposis syndrome, Gorlin syndrome, Birt-Hogg-Dube syndrome, neurofibromatosis type?I?and multiple endocrine neoplasia syndrome 2B), Li-Fraumeni syndrome, and MUTYH-associated adenomatous polyposis. For proper medical care, subspecialization of gastroenterologists, pathologists, and genticists in the field of familial diseases should be introduced in the medical curriculum. PMID:26600934

  4. Genetics Home Reference: Dopamine transporter deficiency syndrome

    MedlinePLUS

    ... PubMed Recent literature OMIM Genetic disorder catalog Conditions > Dopamine transporter deficiency syndrome On this page: Description Genetic ... names Glossary definitions Reviewed October 2015 What is dopamine transporter deficiency syndrome? Dopamine transporter deficiency syndrome is ...

  5. Current status of familial gastrointestinal polyposis syndromes.

    PubMed

    Jung, Ioan; Gurzu, Simona; Turdean, Gligore Sabin

    2015-11-15

    Because of the rarity of familial gastrointestinal cancer-predisposing syndromes, their exploration in literature is not extensive. In this review, an update of the clinicopathological and molecular criteria of gastrointestinal familial polyposis syndromes with potential malignant transformation is performed. In addition, a guide for screening and surveillance was synthesized and a distribution of gene mutations according to the specific syndromes and geographic distribution was included. The following inherited polyposes syndromes were analyzed: familial adenomatous polyposis, the hamartomatous familial polyposes (Juvenile polyposis, Peutz-Jeghers syndrome, Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, hereditary mixed polyposis syndrome, Gorlin syndrome, Birt-Hogg-Dube syndrome, neurofibromatosis type?I?and multiple endocrine neoplasia syndrome 2B), Li-Fraumeni syndrome, and MUTYH-associated adenomatous polyposis. For proper medical care, subspecialization of gastroenterologists, pathologists, and genticists in the field of familial diseases should be introduced in the medical curriculum. PMID:26600934

  6. Genetics Home Reference: Peters plus syndrome

    MedlinePLUS

    ... PubMed Recent literature OMIM Genetic disorder catalog Conditions > Peters plus syndrome On this page: Description Genetic changes ... names Glossary definitions Reviewed September 2013 What is Peters plus syndrome? Peters plus syndrome is an inherited ...

  7. Ear, Nose & Throat Issues & Down Syndrome

    MedlinePLUS

    ... Associated Conditions » Ear, Nose & Throat Issues & Down Syndrome Ear, Nose & Throat Issues & Down Syndrome Ear, nose, and ... Are Common in Children With Down Syndrome? External Ear Canal Stenosis Stenotic ear canals (narrow ear canals) ...

  8. Genetics Home Reference: Parkes Weber syndrome

    MedlinePLUS

    ... Recent literature OMIM Genetic disorder catalog Conditions > Parkes Weber syndrome On this page: Description Genetic changes Inheritance ... Glossary definitions Reviewed August 2011 What is Parkes Weber syndrome? Parkes Weber syndrome is a disorder of ...

  9. Genetics Home Reference: Melnick-Needles syndrome

    MedlinePLUS

    ... PubMed Recent literature OMIM Genetic disorder catalog Conditions > Melnick-Needles syndrome On this page: Description Genetic changes ... names Glossary definitions Reviewed November 2007 What is Melnick-Needles syndrome? Melnick-Needles syndrome is a disorder ...

  10. Genetics Home Reference: Li-Fraumeni syndrome

    MedlinePLUS

    ... Sarcoma, breast, leukemia, and adrenal gland (SBLA) syndrome Sarcoma family syndrome of Li and Fraumeni SBLA syndrome For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming ...

  11. Phantom breast syndrome.

    PubMed

    Ramesh; Shukla, Nootan K; Bhatnagar, Sushma

    2009-07-01

    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. PMID:20668586

  12. Blueberry muffin syndrome

    PubMed Central

    Benmiloud, Sarra; Elhaddou, Ghizlane; Belghiti, Zoubida Alaoui; Hida, Moustapha; Bouharrou, Abdelhak

    2012-01-01

    Le Blueberry Muffin Baby est un syndrome cutané rare observé en période néonatale. Il est caractérisé par des papulo-nodules disséminés inflammatoires traduisant des réactions d'hématopoïèse dermique. Plusieurs causes doivent être recherchées, notamment les infections congénitales, une hémolyse sévère et les pathologies tumorales. Nous rapportons l'observation d'un nouveau-né chez qui l'aspect d'un Blueberry muffin baby a conduit au diagnostic d'une leucémie aiguë myéloïde. PMID:23308328

  13. Burning Mouth Syndrome

    PubMed Central

    Mock, David; Chugh, Deepika

    2010-01-01

    Most clinicians dread seeing the patient presenting with a primary complaint of a burning pain on one or more oral mucosal surfaces. Unlike most other clinical conditions presenting in a dental office, burning mouth syndrome is poorly understood with few evidence based remedies. More recently, advances have been made towards clarifying the possible etiology of the disorder and testing the possible therapeutic modalities available. This article attempts to summarize the “state of the art” today. PMID:20690412

  14. Macrophage Activation Syndrome.

    PubMed

    Ravelli, Angelo; Davì, Sergio; Minoia, Francesca; Martini, Alberto; Cron, Randy Q

    2015-10-01

    Macrophage activation syndrome (MAS) is a potentially life-threatening complication of rheumatic disorders that occurs most commonly in systemic juvenile idiopathic arthritis. In recent years, there have been several advances in the understanding of the pathophysiology of MAS. Furthermore, new classification criteria have been developed. Although the place of cytokine blockers in the management of MAS is still unclear, interleukin-1 inhibitors represent a promising adjunctive therapy, particularly in refractory cases. PMID:26461152

  15. Tarsal tunnel syndrome.

    PubMed

    Gould, John S

    2011-06-01

    Tarsal tunnel syndrome, unlike its similar sounding counterpart in the hand, is a significantly misunderstood clinical entity. Confusion concerning the anatomy involved, the presenting symptomatology, the appropriateness and significance of various diagnostic tests, conservative and surgical management, and, finally, the variability of reported results of surgical intervention attests to the lack of consensus surrounding this condition. The terminology involved in various diagnoses for chronic heel pain is also a hodgepodge of poorly understood entities. PMID:21600447

  16. Psychosomatic syndromes and anorexia nervosa

    PubMed Central

    2013-01-01

    Background In spite of the role of some psychosomatic factors as alexithymia, mood intolerance, and somatization in both pathogenesis and maintenance of anorexia nervosa (AN), few studies have investigated the prevalence of psychosomatic syndromes in AN. The aim of this study was to use the Diagnostic Criteria for Psychosomatic Research (DCPR) to assess psychosomatic syndromes in AN and to evaluate if psychosomatic syndromes could identify subgroups of AN patients. Methods 108 AN inpatients (76 AN restricting subtype, AN-R, and 32 AN binge-purging subtype, AN-BP) were consecutively recruited and psychosomatic syndromes were diagnosed with the Structured Interview for DCPR. Participants were asked to complete psychometric tests: Body Shape Questionnaire, Beck Depression Inventory, Eating Disorder Inventory–2, and Temperament and Character Inventory. Data were submitted to cluster analysis. Results Illness denial (63%) and alexithymia (54.6%) resulted to be the most common syndromes in our sample. Cluster analysis identified three groups: moderate psychosomatic group (49%), somatization group (26%), and severe psychosomatic group (25%). The first group was mainly represented by AN-R patients reporting often only illness denial and alexithymia as DCPR syndromes. The second group showed more severe eating and depressive symptomatology and frequently DCPR syndromes of the somatization cluster. Thanatophobia DCPR syndrome was also represented in this group. The third group reported longer duration of illness and DCPR syndromes were highly represented; in particular, all patients were found to show the alexithymia DCPR syndrome. Conclusions These results highlight the need of a deep assessment of psychosomatic syndromes in AN. Psychosomatic syndromes correlated differently with both severity of eating symptomatology and duration of illness: therefore, DCPR could be effective to achieve tailored treatments. PMID:23302180

  17. Acute aortic syndromes: current status.

    PubMed

    Ridge, Carole A; Litmanovich, Diana E

    2015-05-01

    The term acute aortic syndrome comprises aortic dissection, intramural hematoma, and penetrating atherosclerotic ulcer. The most recent developments in acute aortic syndromes include (1) a change in the mindset that each entity is pathologically distinct, with a shift toward considering the acute aortic syndromes as points along a spectrum of aortic disease, (2) the optimization of aortic imaging quality and radiation dose, and (3) surgical or endovascular management. This review article focuses on how these developments pertain to thoracic radiologists. PMID:25851925

  18. [Polycystic ovary syndrome].

    PubMed

    Vrbíková, Jana

    2015-10-01

    For diagnosing of polycystic ovary syndrome (PCOS) it is currently recommended to follow the ESHRE criteria. For diagnosis according to them two of the following three symptoms are sufficient: 1. morphology of polycystic ovaria, 2. clinical manifestations of hyperandrogenism or laboratory proof of hyperandrogenemia, and 3. oligo-anovulation. PCOS is a complex disorder in whose pathogenesis genetic and environmental effects interact. It is not a gynecological disorder alone, the syndrome is accompanied by insulin resistance which leads to increased incidence of type 2 diabetes mellitus and impaired glucose tolerance (4 times and twice, independently of BMI). Also gestational DM occurs more frequently. Dyslipidemia, arterial hypertension, elevated CRP and homocysteine levels, endothelial dysfunction and greater intima-media thickness are also more frequent. It is not quite clear, however, whether women with PCOS suffer cardiovascular events more frequently as well. More often than is accidental PCOS is associated with depression, anxiety and eating disorders, further with nonalcoholic steatohepatitis and with the sleep apnoea syndrome - especially in obese women. Therapeutic measures include non-pharmacological methods - lifestyle adjustments focused on weight reduction in obese individuals, cosmetic measures for dermatologic manifestation of hyperandrogenism, in particular laser and pharmacotherapy (combined hormonal contraceptives and antiandrogens). Menstrual irregularities can be treated with contraceptives or cyclical administration of gestagens, also metformin can be used.Key words: antiandrogens - diabetes mellitus - hormonal contraception - insulin resistance - ischemic heart disease - metformin. PMID:26486483

  19. Alien hand syndrome.

    PubMed

    Biran, I; Chatterjee, A

    2004-02-01

    In Stanley Kubrick's movie Dr Strangelove, the main character is described as "erratic" and displays a bizarre movement disorder. His right hand seems to be driven by a will of its own, at times clutching his own throat and at other times raising into a Nazi salute. Dr Strangelove must try to restrain this wayward limb with his left hand. Bizarre as this fictional character is, a similar movement disorder can occur in neurologic disease. The complex phenomenon associated with this disorder falls under the rubric of alien hand syndrome. This syndrome is characterized by a limb that seems to perform meaningful acts without being guided by the intention of the patient. Patients find themselves unable to stop the alien limb from reaching and grabbing objects, and they may be unable to release these grasped objects without using their other hand to pry open their fingers. These patients frequently express astonishment and frustration at the errant limb. They experience it as being controlled by an external agent and often refer to it in the third person. This article outlines the origins of the terminology used in describing this syndrome, early observations, and studies regarding its functional neuroanatomy. PMID:14967782

  20. Vitreomacular traction syndrome.

    PubMed

    Bottós, Juliana; Elizalde, Javier; Arevalo, J Fernando; Rodrigues, Eduardo B; Maia, Maurício

    2012-04-01

    The advent of new technologies such as high definition optical coherence tomography (OCT) has not only provided unprecedented imaging capabilities, but also raised the need to define concepts not yet settled and often confusing such as the vitreomacular traction (VMT) syndrome. While technological advances drive us into the future by clarifying the pathophysiology of many diseases and enabling novel therapeutic options, it is at the same time necessary to review basic disease concepts in addition to definitions and classifications. VMT syndrome is implicated in the pathophysiology of a number of macular disorders, translating into a variety of anatomical and functional consequences underscoring the complexity of the condition. These macular changes are closely related to the VMT configuration and have led to proposing classification of this syndrome based on OCT findings. The size and severity of the remaining vitreomacular attachment may define the specific maculopathy. Focal VMT usually leads to macular hole formation, tractional cystoid macular edema and foveal retinal detachment, while broad VMT is associated with epiretinal membranes, diffuse retinal thickening and impaired foveal depression recovery. Despite similar postoperative visual acuity (VA) in focal and broad VMT subgroups, visual improvement is greater with focal VMT because preoperative VA is frequently lower. Surgical procedures are effective to relieve VMT and improve VA in most eyes; outcomes vary with VMT morphology and the duration of symptoms. PMID:23275824

  1. Metabolic cutis laxa syndromes.

    PubMed

    Mohamed, Miski; Kouwenberg, Dorus; Gardeitchik, Thatjana; Kornak, Uwe; Wevers, Ron A; Morava, Eva

    2011-08-01

    Cutis laxa is a rare skin disorder characterized by wrinkled, redundant, inelastic and sagging skin due to defective synthesis of elastic fibers and other proteins of the extracellular matrix. Wrinkled, inelastic skin occurs in many cases as an acquired condition. Syndromic forms of cutis laxa, however, are caused by diverse genetic defects, mostly coding for structural extracellular matrix proteins. Surprisingly a number of metabolic disorders have been also found to be associated with inherited cutis laxa. Menkes disease was the first metabolic disease reported with old-looking, wrinkled skin. Cutis laxa has recently been found in patients with abnormal glycosylation. The discovery of the COG7 defect in patients with wrinkled, inelastic skin was the first genetic link with the Congenital Disorders of Glycosylation (CDG). Since then several inborn errors of metabolism with cutis laxa have been described with variable severity. These include P5CS, ATP6V0A2-CDG and PYCR1 defects. In spite of the evolving number of cutis laxa-related diseases a large part of the cases remain genetically unsolved. In metabolic cutis laxa syndromes the clinical and laboratory features might partially overlap, however there are some distinct, discriminative features. In this review on metabolic diseases causing cutis laxa we offer a practical approach for the differential diagnosis of metabolic cutis laxa syndromes. PMID:21431621

  2. Oral allergy syndrome.

    PubMed

    Kondo, Yasuto; Urisu, Atsuo

    2009-12-01

    Oral allergy syndrome (OAS) is defined as the symptoms of IgE-mediated immediate allergy localized in the oral mucosa, and the characteristics depend on the lability of the antigen. Another term used for this syndrome is pollen-food allergy (PFS); the patient is sensitized with pollen via the airways and exhibits an allergic reaction to food antigen with a structural similarity to the pollen (class 2 food allergy). In addition to PFS, latex-fruit syndrome is also well-known as the disease exhibiting OAS. In treating the condition, it must be noted that most but not all symptoms of PFS are those of OAS. In many cases, antigens become edible by heating, but some are resistant to heating. Also, since the exacerbation of atopic dermatitis is occasionally observed after the intake of cooked antigens in asymptomatic individuals, careful inquiry of the history is important in designing the treatment. Immunotherapy against the cross-reacting pollen has also been attempted in PFS. PMID:19847095

  3. Broken Heart Syndrome

    PubMed Central

    Therkleson, Tessa; Stronach, Shona

    2015-01-01

    This case describes a combination external treatment for “Broken Heart Syndrome” that includes a lavender footbath, massage using moor extract, and oxalis ointment to the abdomen applied by an Anthroposophic nurse for a specific personality type. Lavender footbaths have been used since ancient times for relaxation and calming, while moor extract has been used medicinally in Europe since the middle ages for warmth and environmental protection. Rhythmical massage using moor extract and oxalis ointment poultice to the abdomen are part of the tradition of Anthroposophic nursing when managing stress induced by emotional and physical trauma. An elderly lady with specific characteristics diagnosed as Broken Heart Syndrome received one treatment a week for 4 weeks given by an Anthroposophic nurse at an integrative medical center. Between treatments, education was given to enable self-treatment in the home. The nursing treatments, each using lavender footbaths, moor extract massage, and oxalis ointment poultice to the abdomen, proved very effect, and no negative effects were reported. External applications need to be considered by nurses caring for specific personality types with Broken Heart Syndrome. PMID:25673580

  4. Acute compartment syndrome

    PubMed Central

    Via, Alessio Giai; Oliva, Francesco; Spoliti, Marco; Maffulli, Nicola

    2015-01-01

    Summary Background: acute compartment syndrome (ACS) is one of the few true emergencies in orthopedics and traumatology. It is a painful condition caused by the increase interstitial pressure (intracompart-mental pressure – ICP) within a closed osteofascial compartment which impair local circulation. It occurs most often in the legs, but it can affects also the arms, hands, feet, and buttocks. It usually develops after a severe injury such as fractures or crush injury, but it can also occurs after a relatively minor injury and it may be iatrogenic. Uncommon causes of ACS have been also described, that suggest surgeons to pay great attention to this serious complication. Diagnosing ACS is difficult in clinical practice, even among expert surgeons. Currently, the diagnosis is made on the basis of physical examination and repeated ICP measures. ICP higher than 30 mmHg of diastolic blood pressure is significant of compartment syndrome. Once diagnosis is made, fasciotomy to release the affected compartment should be performed as early as possible because delayed decompression would lead to irreversible ischemic damage to muscles and peripheral nerves. Conclusion: acute compartment syndrome is a surgical emergency. There is still little consensus among authors about diagnosis and treatment of these serious condition, in particular about the ICP at which fasciotomy is absolutely indicated and the timing of wound closure. New investigations are needed in order to improve diagnosis and treatment of ACS. PMID:25878982

  5. IGSF1 deficiency syndrome

    PubMed Central

    Joustra, Sjoerd D.; van Trotsenburg, A. S. Paul; Sun, Yu; Losekoot, Monique; Bernard, Daniel J.; Biermasz, Nienke R.; Oostdijk, Wilma; Wit, Jan M.

    2013-01-01

    A recently uncovered X-linked syndrome, caused by loss-of-function of IGSF1, is characterized by congenital central hypothyroidism and macroorchidism, variable prolactin deficiency, occasional growth hormone deficiency, delayed pubertal testosterone secretion and obesity. We propose to call this endocrinopathy “IGSF1 deficiency syndrome.” Based on an estimated incidence of isolated congenital central hypothyroidism of 1:65,000, we predict that the incidence of IGSF1 deficiency related hypothyroidism is approximately 1:100,000. IGSF1 encodes a plasma membrane immunoglobulin superfamily glycoprotein that is highly expressed in pituitary and testis, but is of unknown function. The variable profile of pituitary dysfunction suggests that IGSF1 may play a role in pituitary paracrine regulation. The clinical significance of the syndrome, particularly the clinical consequences of untreated hypothyroidism, justifies screening family members of patients with IGSF1 mutations for carriership and to study potential carriers of IGSF1 mutations, including patients with idiopathic central hypothyroidism, combined GH and TSH deficiency, macroorchidism or delayed puberty. PMID:25002994

  6. Tourette Syndrome: Update.

    PubMed

    Hallett, Mark

    2015-08-01

    Tourette Syndrome is a disorder characterized by tics. It typically begins in childhood and often improves in adult life. Tics are best described as voluntary movements made automatically so that volition is not ordinarily appreciated. There is frequently an urge, sometimes in the form of a specific sensory feeling (sensory tic), that precedes the tic. Patients say that they make the tic in order to reduce the urge, although shortly after the tic, the urge recurs. The sensory feeling may arise due to defective sensory habituation. Since tics relieve the urge, this can be considered rewarding, and repetition of this behavior may perpetuate the tic as a habit. Tourette Syndrome affects boys more than girls and is associated with attention deficit hyperactivity disorder and obsessive compulsive disorder. Although Tourette Syndrome often appears to be autosomal recessive in inheritance, it has been difficult to find any abnormal genes. There is a loss of inhibition in these patients and recent studies show abnormalities in brain GABA. Certainly there is also an abnormality in dopamine function and dopamine blocking agents are effective therapy. In severe drug-refractory patients, deep brain stimulation can be effective. PMID:25604739

  7. Transient amnesic syndromes.

    PubMed

    Bartsch, Thorsten; Butler, Christopher

    2013-02-01

    Transient amnesic syndromes are striking clinical phenomena that are commonly encountered by physicians in acute medical settings. Diagnosis of such syndromes can be challenging, and their causes have been debated for over 50 years. Critical clinical distinctions, such as between transient global amnesia (TGA) and transient epileptic amnesia (TEA), as well as important clues to the underlying pathophysiology, have recently been revealed. TGA is characterized by the sudden onset of a profound anterograde and retrograde amnesia that lasts for up to 24 h, with neuroimaging after an acute TGA event showing transient perturbation of specific hippocampal circuits that are involved in memory processing. Some cases of transient amnesia are attributable to focal seizure activity and are termed TEA, which has a clinical presentation similar to that of TGA, but can be distinguished from the latter by the brevity and frequency of amnesic attacks. Moreover, TEA carries a risk of persistent memory impairment that can be mistaken for dementia. Here, we summarize clinically relevant aspects of transient amnesic syndromes, giving practical recommendations for diagnosis and patient management. We describe results from imaging and epidemiological studies that have shed light on the functional anatomy and pathophysiological mechanisms underlying these conditions. PMID:23296343

  8. Animal models of the polycystic ovary syndrome phenotype

    PubMed Central

    Veiga-Lopez, Almudena

    2013-01-01

    The etiology of the polycystic ovary syndrome (PCOS) remains unclear, despite its high prevalence among infertility disorders in women of reproductive age. Although there is evidence for a genetic component of the disorder, other causes, such as prenatal insults are considered among the potential factors that may contribute to the development of the syndrome. Over the past few decades, several animal models have been developed in an attempt to understand the potential contribution of exposure to excess steroids on the development of this syndrome. The current review summarizes the phenotypes of current animal models exposed to excess steroid during the prenatal and early postnatal period and how they compare with the phenotype seen in women with PCOS. PMID:23701728

  9. Reversible Posterior Leukoencephalopathy Syndrome Due to Carboplatin and Paclitaxel Therapy

    PubMed Central

    Kandemir, Melek; Küçükkaya, Belgin; Tepe, Muzaffer Sava?; Yalç?ner, Zehra Betül; Salepçi, Nedret Taflan

    2015-01-01

    Background: Reversible posterior leukoencephalopathy syndrome (RPLS) is a clinicoradiologic syndrome characterized by headache, decreased alertness, seizures, visual abnormalities, and white matter changes indicative of cerebral edema. Although the pathogenesis remains poorly understood, several etiological causes have been described. RPLS is a common complication of chemotherapeutics because of its toxic effect on the central nervous system. This syndrome is frequently associated with seizures but rarely seen with status epilepticus and periodic lateralized epileptiform discharges (PLEDs). Case Report: We present a case with metastatic lung cancer that developed RPLS after carboplatin and paclitaxel therapy. Our case was admitted to the hospital with status epilepticus and her electroencephalography showed PLEDs. Conclusion: It is important to closely monitor blood pressure and electrolyte levels in patients who take chemotherapeutic agents, especially when there is no previous history of hypertension. It should be kept in mind that RPLS is a causative factor of status epilepticus and PLEDs.

  10. RAAS inhibition and cardiorenal syndrome.

    PubMed

    Onuigbo, Macaulay Amechi C

    2014-01-01

    The consensus conference on cardio-renal syndromes (2008) defined 'cardio-renal syndromes' as 'disorders of the heart and kidneys whereby acute or chronic dysfunction in one organ may induce acute or chronic dysfunction of the other' and identified five subtypes of the syndromes. Various pathophysiologic mechanisms underlie cardiorenal syndrome including hemodynamic derangements, reduced cardiac output leading to impaired renal perfusion, reduced stroke volume, raised atrial filling pressures, elevated atrial pressures, sodium and water retention, venous congestion, right ventricular dysfunction and venous hypertension causing increased renal venous pressure, intra-abdominal hypertension, various neurohormonal adaptations including activation of the renin-angiotensin-aldosterone system, adaptive activation of the sympathetic nervous system, cytokine release and oxidative stress. Although there are standardized clinical guidelines for the management of heart failure, and chronic kidney disease, respectively, there are no similar consensus clinical guidelines for the management of the cardiorenal syndromes. RAAS inhibition is advocated in treating systolic heart failure. There is evidence that RAAS inhibition is also useful in cardiorenal syndrome. However, RAAS inhibition, while potentially useful in the management of cardiorenal syndrome, is not the 'magic bullet', is sometimes limited by adverse renal events, is not applicable to all patients, and must be applied by physicians with due diligence and caution. Nevertheless, a more comprehensive multidisciplinary multipronged approach to managing patients with cardiorenal syndrome is even more pragmatic and commonsense given the multiple mechanisms and pathogenetic pathways implicated in the causation and perpetuation of cardiorenal syndrome. PMID:25549841

  11. Ocular associations of metabolic syndrome

    PubMed Central

    Chopra, Rupali; Chander, Ashish; Jacob, Jubbin J.

    2012-01-01

    Metabolic syndrome is a cluster of diseases including central obesity, dyslipidemia, hyperglycemia, and high blood pressure. People with metabolic syndrome have been shown to be at an increased risk of developing cardiovascular disease, beyond the risk associated with individual components of the syndrome. The association of diabetes and hypertension with retinopathy, cataract, and raised intraocular pressure is well known. This review highlights the association of metabolic syndrome, including all its components, with various ocular conditions such as retinopathy, central retinal artery occlusion, cataracts, and raised intraocular pressure. PMID:22701846

  12. Genetics Home Reference: Robinow syndrome

    MedlinePLUS

    ... fetus ; gene ; genitalia ; genitals ; gums ; inheritance ; kidney ; kyphoscoliosis ; mineral ; mutation ; pattern of inheritance ; protein ; recessive ; short stature ; stature ; syndrome You may find ...

  13. The Living Periodic Table

    ERIC Educational Resources Information Center

    Nahlik, Mary Schrodt

    2005-01-01

    To help make the abstract world of chemistry more concrete eighth-grade students, the author has them create a living periodic table that can be displayed in the classroom or hallway. This display includes information about the elements arranged in the traditional periodic table format, but also includes visual real-world representations of the…

  14. [Ophthalmologist and "computer vision syndrome"].

    PubMed

    Barar, A; Apatachioaie, Ioana Daniela; Apatachioaie, C; Marceanu-Brasov, L

    2007-01-01

    The authors had tried to collect the data available on the Internet about a subject that we consider as being totally ignored in the Romanian scientific literature and unexpectedly insufficiently treated in the specialized ophthalmologic literature. Known in the specialty literature under the generic name of "Computer vision syndrome", it is defined by the American Optometric Association as a complex of eye and vision problems related to the activities which stress the near vision and which are experienced in relation, or during, the use of the computer. During the consultations we hear frequent complaints of eye-strain - asthenopia, headaches, blurred distance and/or near vision, dry and irritated eyes, slow refocusing, neck and backache, photophobia, sensation of diplopia, light sensitivity, and double vision, but because of the lack of information, we overlooked them too easily, without going thoroughly into the real motives. In most of the developed countries, there are recommendations issued by renowned medical associations with regard to the definition, the diagnosis, and the methods for the prevention, treatment and periodical control of the symptoms found in computer users, in conjunction with an extremely detailed ergonomic legislation. We found out that these problems incite a much too low interest in our country. We would like to rouse the interest of our ophthalmologist colleagues in the understanding and the recognition of these symptoms and in their treatment, or at least their improvement, through specialized measures or through the cooperation with our specialist occupational medicine colleagues. PMID:18064965

  15. A Study of the Effect of Age of Onset of Treatment on the Observed Development of Down's Syndrome Babies.

    ERIC Educational Resources Information Center

    Sanz, M. T.; Menendez, J.

    1996-01-01

    Studied how early treatment affected the development of a sample of 30 Down syndrome babies incorporated into the study at different ages. Found that development quotients descended significantly at 18 months of age as the period in treatment shortened. (AJH)

  16. Linguistic biomarkers of Hubris syndrome.

    PubMed

    Garrard, Peter; Rentoumi, Vassiliki; Lambert, Christian; Owen, David

    2014-06-01

    Owen and Davidson coined the term 'Hubris Syndrome' (HS) for a characteristic pattern of exuberant self-confidence, recklessness, and contempt for others, shown by some individuals holding substantial power. Meaning, emotion and attitude are communicated intentionally through language, but psychological and cognitive changes can be reflected in more subtle ways, of which a speaker remains unaware. Of the fourteen symptoms of HS, four imply lexical choices: use of the third person/'royal we'; excessive confidence; exaggerated self-belief; and supposed accountability to God or History. One other feature (recklessness) could influence language complexity if impulsivity leads to unpredictability. These hypotheses were tested by examining transcribed spoken discourse samples produced by two British Prime Ministers (Margaret Thatcher and Tony Blair) who were said to meet criteria for HS, and one (John Major) who did not. We used Shannon entropy to reflect informational complexity, and temporal correlations (words or phrases whose relative frequency correlated negatively with time in office) and keyness values to identify lexical choices corresponding to periods during which HS was evident. Entropy fluctuated in all three subjects, but consistent (upward) trends in HS-positive subjects corresponded to periods of hubristic behaviour. The first person pronouns 'I' and 'me' and the word 'sure' were among the strongest positive temporal correlates in Blair's speeches. Words and phrases that correlated in the speeches of Thatcher and Blair but not in those of Major included the phrase 'we shall' and 'duties' (both negative). The keyness ratio of 'we' to 'I' was clearly higher throughout the terms of office of Thatcher and Blair that at any point in the premiership of Major, and this difference was particularly marked in the case of Blair. The findings are discussed in the context of historical evidence and ideas for enhancing the signal to noise ratio put forward. PMID:24074886

  17. Psychosocial factors that aggravate the symptoms of sick house syndrome in Japan.

    PubMed

    Imai, Nami; Imai, Yoshiharu; Kido, Yoshihiro

    2008-06-01

    Over the last 30 years in Japan, there has been a 10% increase in the number of people suffering from sick house syndrome due to toxic chemicals released from construction materials and wallpaper. This syndrome can develop into the more complex and disabling, chemical sensitivity syndrome, so preventing early exposure to toxins at home is critical in reducing the likelihood of health problems in the community. A qualitative study was undertaken using ethnographic methods to identify the psychosocial aggravating factors of sick house syndrome. As a result, the participants identified three aggravating factors that extended the period of exposure of the participant to toxic chemicals: a lack of knowledge about the disorder; the difficulty in establishing a diagnosis; and the difficulty of taking radical measures to improve the home environment. Public awareness of sick house syndrome and the dangers of toxicity from construction materials is vital to eliminate these aggravating factors and to prevent illness. PMID:18466382

  18. International Guidelines for the Management and Treatment of Morquio A Syndrome

    PubMed Central

    Hendriksz, Christian J; Berger, Kenneth I; Giugliani, Roberto; Harmatz, Paul; Kampmann, Christoph; Mackenzie, William G; Raiman, Julian; Villarreal, Martha Solano; Savarirayan, Ravi

    2015-01-01

    Morquio A syndrome (mucopolysaccharidosis IVA) is a lysosomal storage disorder associated with skeletal and joint abnormalities and significant non-skeletal manifestations including respiratory disease, spinal cord compression, cardiac disease, impaired vision, hearing loss, and dental problems. The clinical presentation, onset, severity and progression rate of clinical manifestations of Morquio A syndrome vary widely between patients. Because of the heterogeneous and progressive nature of the disease, the management of patients with Morquio A syndrome is challenging and requires a multidisciplinary approach, involving an array of specialists. The current paper presents international guidelines for the evaluation, treatment and symptom-based management of Morquio A syndrome. These guidelines were developed during two expert meetings by an international panel of specialists in pediatrics, genetics, orthopedics, pulmonology, cardiology, and anesthesia with extensive experience in managing Morquio A syndrome. © 2014 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals, Inc. PMID:25346323

  19. Myelodysplastic Syndromes, CSR 1975-2005

    Cancer.gov

    Myelodysplastic Syndromes (MDS), Chronic Myeloproliferative Disorders (CMD), and Chronic This section includes Myelodysplastic Syndromes (MDS), Chronic Myeloproliferative Disorders (CMD), and Chronic Myelomonocytic Leukemia (CMML).

  20. Myelodysplastic Syndromes, CSR 1975-2004

    Cancer.gov

    Myelodysplastic Syndromes (MDS), Chronic Myeloproliferative Disorders (CMD), and Chronic This section includes Myelodysplastic Syndromes (MDS), Chronic Myeloproliferative Disorders (CMD), and Chronic Myelomonocytic Leukemia (CMML).