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Sample records for adult onset cases

  1. Adult onset retinoblastoma

    PubMed Central

    Sengupta, Sabyasachi; Pan, Utsab; Khetan, Vikas

    2016-01-01

    Retinoblastoma (RB) is the most common primary malignant intraocular tumor of childhood presenting usually before 5 years of age. RB in adults older than 20 years is extremely rare. A literature search using PubMed/PubMed Central, Scopus, Google Scholar, EMBASE, and Cochrane databases revealed only 45 cases till date. Over the past decade, there has been a significant increase in the number of such reports, indicating heightened level of suspicion among ophthalmologists. Compared to its pediatric counterpart, adult onset RB poses unique challenges in diagnosis and treatment. This article summarizes available literature on adult onset RB and its clinical and pathologic profile, genetics, association with retinocytoma, diagnostics, treatment, and outcomes. PMID:27609158

  2. [Adult onset Still's disease as a diagnostics challenge in case of fever of unknown origin].

    PubMed

    Debski, Marcin; Stepniewski, Piotr; Wróbel, Michał

    2013-01-01

    Fever of unknown origin is often a diagnostic challenge. Here we present a case of 55-year-old woman with a history of a few months fever, progressing weakness and salmon-coloured, macular skin rash. The differential diagnosis included neoplasmatic conditions, infections and connective tissue disorders. Finally adult onset Still's disease was suspected. Glucocorticosteroid treatment was induced. During the therapy a central nervous system infection occurred, which was fatal for the patient. The presented clinical case shows that among many causes of fever of unknown origin, adult onset Still's disease should be taken into account.

  3. Familial Adult-onset Alexander Disease: Clinical and Neuroradiological Findings of Three Cases

    PubMed Central

    ELMALI, Ayşe Deniz; ÇETİNÇELİK, Ümran; IŞLAK, Civan; UZUN ADATEPE, Nurten; KARAALİ SAVRUN, Feray; YALÇINKAYA, Cengiz

    2016-01-01

    The adult-onset Alexander disease (AOAD) dramatically differs from the early onset AD with respect to clinical and neuroradiological findings. Herein we report the detailed clinical and neuroradiological findings of a Turkish family with AOAD. In all three cases, magnetic resonance imaging revealed marked atrophy of the mesencephalon, bulbus, and cervical spinal cord accompanied with signal abnormalities in the same regions along with supratentorial white matter. Basal ganglia were affected in two cases. Molecular genetic analysis revealed heterozygous mutation in the 8th exon of the glial fibrillary acidic protein gene M451I (c.1245G>A), leading to the diagnosis of AOAD in all cases. PMID:28360791

  4. Acute-onset unilateral psychogenic hearing loss in adults: report of six cases and diagnostic pitfalls.

    PubMed

    Oishi, Naoki; Kanzaki, Sho; Kataoka, Chinatsu; Tazoe, Mami; Takei, Yasuhiko; Nagai, Keiichi; Kohno, Naoyuki; Ogawa, Kaoru

    2009-01-01

    We encountered 6 rare cases of acute-onset unilateral psychogenic hearing loss in adults. All were women in their 20s and 30s. Three cases had severe hearing impairment characterized by hearing loss at every frequency; 2 cases had profound hearing impairment, and 1 case had low-frequency hearing impairment. Of the 6 cases, 3 had a history of hearing loss, and 1 had a history of psychogenic visual disturbance. All 6 cases were initially diagnosed as having idiopathic sudden sensorineural hearing loss; all subsequently received steroid therapy. Three cases were not diagnosed as being psychogenic in origin until otoacoustic emissions and auditory brain responses were performed. Although the presence of distinctive clinical features (age, gender, and past history) is important for suspecting psychogenic hearing loss, objective audiological tests such as otoacoustic emissions are essential for diagnosing some cases. Compared to the existing reports of similar cases, our cases had a poorer prognosis (only 2 cases were cured).

  5. Piriform sinus carcinoma with a paraneoplastic syndrome misdiagnosed as adult onset Still's disease: a case report.

    PubMed

    Yang, Liu; Li, Wen; Du, Jintao

    2015-01-01

    Paraneoplastic syndromes (PS) occur less commonly in association with otolaryngologic neoplasms than other carcinomas such as those of lung or breast. Piriform sinus carcinoma with PS is extremely rare. We here report a case of piriform sinus carcinoma accompanied by PS that was initially misdiagnosed as adult onset Still's disease and describe our diagnosis and treatment. One lesson we have drawn from the experience of this misdiagnosis is that PS symptoms may manifest before the primary tumor is evident and complicate the diagnostic process.

  6. Novel case of Trevor’s disease: Adult onset and later recurrence

    PubMed Central

    Khalsa, Amrit S; Kumar, Neil S; Chin, Matthew A; Lackman, Richard D

    2017-01-01

    Dysplasia epiphysealis hemimelica (DEH), or Trevor’s disease, is an osteocartilaginous epiphyseal overgrowth typically occurring in children. The literature reports 6 adult cases and none describe recurrence requiring additional procedures. We present a new-onset proximal tibial DEH in an adult recurring approximately 3 years after open excision. A 39-year-old female presented with a history of right knee pain, swelling, and instability. Physical examination revealed a firm proximal tibial mass. Computed tomography (CT) imaging showed an exophytic, lobulated, sclerotic mass involving the anterolateral margin of the lateral tibial plateau. Magnetic resonance imaging was suggestive of an osteochondroma. The patient underwent curettage of the lesion due to its periarticular location. Histology revealed benign and reactive bone and cartilage consistent with periosteal chondroma. Two and a half years later, the patient presented with a firm, palpable mass larger than the initial lesion. CT revealed a lateral tibial plateau sclerotic mass consistent with recurrent intra-articular DEH. A complete excision was performed and histology showed sclerotic bone with overlying cartilage consistent with exostosis. DEH is a rare epiphyseal osteocartilaginous outgrowth frequently occurring in the long bones of children less than 8 years old. DEH resembles an osteochondroma due to its pediatric presentation and similar histologic appearance. Adult-onset cases comprise less than 1% of reported cases. Recurrence rate after surgical intervention is unknown. Only 1 such case, occurring in a child, has been described. Clinicians contemplating operative treatment for DEH should note the potential for recurrence and consider complete excision. A follow-up period of several years may be warranted to identify recurrent lesions. PMID:28144583

  7. Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature.

    PubMed

    Pareyson, Davide; Fancellu, Roberto; Mariotti, Caterina; Romano, Silvia; Salmaggi, Andrea; Carella, Francesco; Girotti, Floriano; Gattellaro, Grazietta; Carriero, Maria Rita; Farina, Laura; Ceccherini, Isabella; Savoiardo, Mario

    2008-09-01

    Alexander disease (AD) in its typical form is an infantile lethal leucodystrophy, characterized pathologically by Rosenthal fibre accumulation. Following the identification of glial fibrillary acidic protein (GFAP) gene as the causative gene, cases of adult-onset AD (AOAD) are being described with increasing frequency. AOAD has a different clinical and neuroradiological presentation with respect to early-onset AD, as abnormalities are mainly concentrated in the brainstem-spinal cord junction. We report detailed clinical and genetic data of 11 cases of AOAD, observed over a 4-year period, and a review of the previously reported 25 cases of genetically confirmed AOAD. In our series, onset occurred as late as age 62, and up to 71 in an affected deceased relative. Most cases appeared sporadic, but family history may be misleading. The most frequent symptoms were related to bulbar dysfunction-with dysarthria, dysphagia, dysphonia (seven patients)-, pyramidal involvement (seven patients) and cerebellar ataxia (seven patients). Four patients had palatal myoclonus. Sleep disorders were also observed (four cases). Bulbar symptoms, however, were infrequent at onset and two symptomatic patients had an almost pure pyramidal involvement. Two subjects were asymptomatic. Misdiagnosis at presentation was frequent and MRI was instrumental in suggesting the correct diagnosis by showing, in all cases, mild to severe atrophy of the medulla oblongata extending caudally to the cervical spinal cord. In ten patients, molecular studies revealed six novel missense mutations and three previously reported changes in GFAP. The last typical patient carried no definitely pathogenic mutation, but a missense variant (p.D157N), supposedly a rare polymorphism. Revision of the literature and the present series indicate that the clinical picture is not specific, but AOAD must be considered in patients of any age with lower brainstem signs. When present, palatal myoclonus is strongly suggestive

  8. Adult-onset Atopic Dermatitis

    PubMed Central

    Kanwar, Amrinder Jit

    2016-01-01

    Adult-onset atopic dermatitis is still an under recognized condition as there are only few studies regarding this entity. As compared to childhood onset atopic dermatitis, clinical features of adult onset atopic dermatitis are still not categorized. Adult atopic dermatitis can present for the first time in adult age with atypical morphology or may progress from childhood onset. This article reviews the characteristic clinical features of adult atopic dermatitis, associated risk factors and management. PMID:27904186

  9. Case report: An adult-onset type II citrin deficiency patient in the emergency department

    PubMed Central

    TANG, LUJIA; CHEN, LIANG; WANG, HAIRONG; DAI, LIHUA; PAN, SHUMING

    2016-01-01

    Mutations in the solute carrier family 25 (SLC25A13) gene may result in neonatal intrahepatic cholestasis caused by citrin deficiency and/or adult-onset type II citrullinemia. These conditions are inherited in an autosomal recessive manner. The current case report describes a 43-year-old man who presented with sudden delirium and upper limb weakness. Upon admission, the patient was fully conscious and alert but later lost consciousness subsequent to a sudden convulsive seizure. Hyperammonemia was detected and analysis of the SLC25A13 gene identified an 851del4 mutation. Thus, the possibility of genetic disease should be considered as a potential cause of the symptoms of patients with altered states of consciousness, such as delirium and loss of consciousness, in cases where the cause of the disturbance is unknown. PMID:27347070

  10. [A case of adult-onset type II citrullinemia in an elderly patient].

    PubMed

    Kitaoka, Mayuko; Sakaeda, Hiroshi; Suzuki, Mika; Miki, Toshifumi; Saito, Junko; Chikamori, Masayasu; Tomita, Hideharu; Ichikawa, Hiromoto; Yoshimoto, Kaori; Takamatsu, Masahiro; Okada, Mitsuo; Aono, Rei; Enzan, Hideaki; Miyamoto, Takako

    2013-03-01

    A 72-year-old man presented with consciousness disturbance. The results of brain magnetic resonance imaging and cerebrospinal fluid examination were normal, but triphasic waves were noted on electroencephalography. His plasma ammonia level was elevated due to which encephalopathy secondary to hyperammonemia was suspected. However, his liver function was normal, and no evidence of cirrhosis or portal-systemic shunt was noted. The patient's medical history revealed that he had a tendency to excessively consume pulse products since childhood, and an amino acid analysis showed elevation of citrulline and arginine levels. Thus, we diagnosed the patient with an extremely rare case of adult-onset type II citrullinemia, which was triggered by cessation of the intake of pulse foods (soybeans and peanuts) due to dental problems.

  11. Adult-onset intradural spinal teratoma in the lumbar spine: A case report.

    PubMed

    Arai, Yasuhisa; Takahashi, Masaki; Takeda, Koutarou; Shitoto, Katsuo

    2000-12-01

    Intradural spinal teratoma is a very rare tumour that can be associated with dysraphic defects. We report a case of adult-onset intradural spinal teratoma in the lumbar spine. The patient was a 54-year-old female who had chief complaints of a gait disturbance. X-rays showed an enlargement of the interpedicular distance at L3/L4 and spina bifida distal to L4. MRI showed a spindle-shaped tumour between L2 and L5. We performed laminotomy using an ultrasonic surgical knife. Pathological diagnosis of the resected tumour was matured teratoma. The diagnosis of matured teratoma was made because the tumour had no epithelium and a layered structure including prostate tissue, matured fat, cartilage and sweat gland.

  12. Adult-onset NREM parasomnia with hypnopompic hallucinatory pain: a case report.

    PubMed

    Mantoan, Laura; Eriksson, Sofia H; Nisbet, Angus P; Walker, Matthew C

    2013-02-01

    We report the case of a 43-year-old woman presenting with nocturnal episodes of pain and screaming during sleep starting at age 30. There was no childhood or family history of parasomnia. The events had gradually become more frequent over the years, occurring in the first half of the night within 2 h of sleep onset. There were no triggers, and she had partial amnesia for the events. A diagnosis of adult-onset sleep terrors was made on clinical grounds and supported polysomnographically. Seizures and periodic limb movements were excluded as triggering factors. There was some mild sleep disordered breathing (predominantly non-desaturating hypopnea with a propensity for REM sleep of debatable significance). Imaging of the brain and spine and neurophysiological investigations ruled out lesions, entrapments, or neuropathies as possible causes of pain. Treatment (clonazepam, paroxetine, or gabapentin) was poorly tolerated and made no difference to the nocturnal episodes, while trazodone worsened them. This is the first report of hypnopompic psychic pain in association with a NREM parasomnia. We hypothesize that the pain may represent a sensory hallucination analogous to the more commonly recognized visual NREM parasomnia-associated hypnopompic visual hallucinations and that, as such, it may arise during arousal of the sensory neocortex as confabulatory response.

  13. Adult-onset mitochondrial myopathy.

    PubMed Central

    Fernandez-Sola, J.; Casademont, J.; Grau, J. M.; Graus, F.; Cardellach, F.; Pedrol, E.; Urbano-Marquez, A.

    1992-01-01

    Mitochondrial diseases are polymorphic entities which may affect many organs and systems. Skeletal muscle involvement is frequent in the context of systemic mitochondrial disease, but adult-onset pure mitochondrial myopathy appears to be rare. We report 3 patients with progressive skeletal mitochondrial myopathy starting in adult age. In all cases, the proximal myopathy was the only clinical feature. Mitochondrial pathology was confirmed by evidence of ragged-red fibres in muscle histochemistry, an abnormal mitochondrial morphology in electron microscopy and by exclusion of other underlying diseases. No deletions of mitochondrial DNA were found. We emphasize the need to look for a mitochondrial disorder in some non-specific myopathies starting in adult life. Images Figure 1 Figure 2 PMID:1589382

  14. Solitary, adult-onset, intraosseous myofibroma of the finger: report of a case and review of literature.

    PubMed

    Ma, Yihong; Siegal, Gene P; Wei, Shi

    2015-09-01

    Myofibroma is a rare benign neoplasm of myofibroblastic origin. It typically occurs in the skin and subcutaneous tissues of the head and neck in infants and young children as multicentric lesions known as infantile myofibromatosis. Intraosseous myofibromas are very rare and are typically destructive lesions that predominantly affect craniofacial bones in the setting of myofibromatosis. Solitary, intraosseous myofibromas in adults are exceedingly rare. Herein, we report a myofibroma involving the middle phalanx of the right index finger in a 58-year-old man who presented with a pathologic fracture. Twelve other cases of adult-onset, intraosseous myofibroma were compiled from the English language literature and integrated with this report.

  15. A Rare Case of Adult Onset Intussusception Complicated By Narcotic Dependence

    PubMed Central

    Khan, Saira J; Desmarais, Ashley M; Joseph, Bellal

    2017-01-01

    This report describes a rare case of adult intussusception in a patient with a history of a Roux-en-Y gastric bypass procedure; complicated by a history of narcotic abuse, methadone dependence, and methamphetamine abuse. Adult patients who have undergone a Roux-en-Y gastric bypass procedure may be at an increased risk of developing intussusception, and clinicians involved in their care should be aware of this potential complication. PMID:28191368

  16. Adult-onset cystic hygroma: A case report of rare entity

    PubMed Central

    Bahl, Sumit; Shah, Vandana; Anchlia, Sonal; Vyas, Siddharth

    2016-01-01

    Cystic hygroma is a benign congenital malformation of the lymphatic system that occurs in infant or children younger than 2 years of age. Although cystic hygroma is well recognized in pediatric practice, it seldom presents de novo in adulthood. These are commonly present in head and neck but can be present anywhere. Cystic hygroma is very rare in adults, but it should be considered in the differential diagnosis of adult neck swellings. Patients presenting with a painless, soft, fluctuant, and enlarging neck mass should have a careful history and physical examination along with radiological imaging to assist with diagnosis. Surgical intervention is the treatment of choice for this rare condition. Here, we are reporting a case of cystic hygroma in a 32-year-old male patient in the neck region. The objectives of this case report are to discuss the clinical presentation, diagnosis, histopathological findings and management of this malformation. PMID:27134456

  17. Adult-onset cystic hygroma: A case report of rare entity.

    PubMed

    Bahl, Sumit; Shah, Vandana; Anchlia, Sonal; Vyas, Siddharth

    2016-01-01

    Cystic hygroma is a benign congenital malformation of the lymphatic system that occurs in infant or children younger than 2 years of age. Although cystic hygroma is well recognized in pediatric practice, it seldom presents de novo in adulthood. These are commonly present in head and neck but can be present anywhere. Cystic hygroma is very rare in adults, but it should be considered in the differential diagnosis of adult neck swellings. Patients presenting with a painless, soft, fluctuant, and enlarging neck mass should have a careful history and physical examination along with radiological imaging to assist with diagnosis. Surgical intervention is the treatment of choice for this rare condition. Here, we are reporting a case of cystic hygroma in a 32-year-old male patient in the neck region. The objectives of this case report are to discuss the clinical presentation, diagnosis, histopathological findings and management of this malformation.

  18. Adult-onset food allergy.

    PubMed

    Kivity, Shmuel

    2012-01-01

    The prevalence of food allergy is increasing in both the pediatric and adult populations. While symptom onset occurs mostly during childhood, there are a considerable number of patients whose symptoms first begin to appear after the age of 18 years. The majority of patients with adult-onset food allergy suffer from the pollen-plant allergy syndromes. Many of them manifest their allergy after exercise and consuming food to which they are allergic. Eosinophilic esophagitis, an eosinophilic inflammation of the esophagus affecting individuals of all ages, recently emerged as another allergic manifestation, with both immediate and late response to the ingested food. This review provides a condensed update of the current data in the literature on adult-onset allergy.

  19. Adult-Onset Still’s Disease: Still a Serious Health Problem (a Case Report and Literature Review)

    PubMed Central

    Agha-Abbaslou, Mojgan; Bensaci, Ana Maria; Dike, Oluchi; Poznansky, Mark C.; Hyat, Arooj

    2017-01-01

    Patient: Female, 53 Final Diagnosis: Adult-onset Still’s Disease Symptoms: Abdominal pain • fever Medication: — Clinical Procedure: — Specialty: Rheumatology Objective: Rare disease Background: Adult-onset Still’s Disease (AOSD) is a rare systemic inflammatory disease accompanied by a triad of spiking fever, maculopapular exanthema, and arthralgia. To date, there is no definite laboratory or imaging test available for diagnosing AOSD, and the diagnosis is one of exclusion, which can be very challenging. Case Report: We report on the case of a 53-year-old female who presented with fever, arthralgia, and abdominal pain. Her initial laboratory tests showed elevated AST and ALT, and normal leukocytes with bandemia. During her hospitalization, we evaluated the patient for other potential differential diagnoses. After an extensive workup, the patient was diagnosed with AOSD based on Yamaguchi criteria. Her serum ferritin levels were measured and found to be markedly elevated, which is a non-specific finding in AOSD patients. Conclusions: This case highlights the important role of a detailed history and physical examination for timely diagnosis of AOSD to prevent complications and improve patient’s prognosis. PMID:28154368

  20. Adult-onset leukoencephalopathy with neuroaxonal spheroids and pigmented glia: report of five cases and a new mutation.

    PubMed

    Kleinfeld, Kirk; Mobley, Bret; Hedera, Peter; Wegner, Adam; Sriram, Subramaniam; Pawate, Siddharama

    2013-02-01

    The objective of this work is to report on a series of five patients with adult-onset leukoencephalopathy with neuroaxonal spheroids and pigmented glia (ALSP). ALSP is a rare adult-onset leukodystrophy, which encompasses hereditary diffuse leukoencephalopathy with axonal spheroids and pigmentary orthochromatic leukodystrophy. This was a retrospective chart review and literature review. Five previously healthy women presented with a rapidly progressive neurological disorder at ages 39, 37, 40, 30, and 47, respectively. All five individuals were initially diagnosed as suffering from multiple sclerosis. The clinical courses of the five patients were dominated by progressive spastic quadriparesis (patient 5, newly diagnosed, has paraparesis at this time) and dementia. Brain magnetic resonance imaging (MRI) showed diffuse cerebral atrophy, corpus callosal atrophy, and diffuse T2 hyperintensities in the subcortical and periventricular white matter with no gadolinium enhancing lesions. Three patients showed involvement of pyramidal tracts from motor cortex to the brainstem. Cerebrospinal fluid was normal in all cases. Diagnosis of ALSP was established by biopsy (two cases) and autopsy (two cases). Histopathology showed the presence of neuroaxonal spheroids in all four cases and pigmented glia in three. In the fifth case, diagnosis was established by genetic analysis alone that showed a disease-causing mutation in the colony-stimulating factor 1 receptor (CSF1R) gene. Genetic analysis was done in three patients with available DNA, and identified the disease-causing mutation in all three, including a novel mutation F828S. ALSP may be suspected in adults with rapid to subacute progression of neurological disease when (1) MRI shows corpus callosal atrophy on a background of generalized brain atrophy and diffuse white matter disease without postcontrast enhancement, (2) CSF studies are normal, and (3) studies for systemic inflammatory diseases and specific leukodystrophies are

  1. A Case of Adult-Onset Acute Rheumatic Fever With Long-Lasting Atrioventricular Block Requiring Permanent Pacemaker Implantation.

    PubMed

    Oba, Yusuke; Watanabe, Hiroaki; Nishimura, Yoshioki; Ueno, Shuichi; Nagashima, Takao; Imai, Yasushi; Shimpo, Masahisa; Kario, Kazuomi

    2015-01-01

    A 45-year-old hypertensive Japanese woman presented with epigastric pain on inspiration, fever, complete atrioventricular block and polyarthritis. Her antistreptolysin O levels were markedly elevated. A diagnosis of rheumatic fever was made according to the modified Jones criteria. She was prescribed loxoprofen sodium, which was partially effective for her extracardiac clinical symptoms. However, she had syncope due to complete atrioventricular block with asystole longer than 10 seconds. Consequently, we implanted a permanent pacemaker. Although we prescribed prednisolone, the efficacy of which was limited for the patient's conduction disturbance, the complete atrioventricular block persisted. In our systematic review of 12 similar cases, the duration of complete heart block was always transient and there was no case requiring a permanent pacemaker. We thus encountered a very rare case of adult-onset acute rheumatic fever with persistent complete atrioventricular block necessitating permanent pacemaker implantation.

  2. The ocular motor features of adult-onset alexander disease: a case and review of the literature.

    PubMed

    Pfeffer, Gerald; Abegg, Mathias; Vertinsky, A Talia; Ceccherini, Isabella; Caroli, Francesco; Barton, Jason J S

    2011-06-01

    A 51-year-old Chinese man presented with gaze-evoked nystagmus, impaired smooth pursuit and vestibular ocular reflex cancellation, and saccadic dysmetria, along with a family history suggestive of late-onset autosomal dominant parkinsonism. MRI revealed abnormalities of the medulla and cervical spinal cord typical of adult-onset Alexander disease, and genetic testing showed homozygosity for the p.D295N polymorphic allele in the gene encoding the glial fibrillary acidic protein. A review of the literature shows that ocular signs are frequent in adult-onset Alexander disease, most commonly gaze-evoked nystagmus, pendular nystagmus, and/or oculopalatal myoclonus, and less commonly ptosis, miosis, and saccadic dysmetria. These signs are consistent with the propensity of adult-onset Alexander disease to cause medullary abnormalities on neuroimaging.

  3. Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia linked CSF1R mutation: Report of four Korean cases.

    PubMed

    Kim, Eun-Joo; Shin, Jin-Hong; Lee, Jeong Hee; Kim, Jong Hun; Na, Duk L; Suh, Yeon-Lim; Hwang, Sun Jae; Lee, Jae-Hyeok; Lee, Young Min; Shin, Myung-Jun; Lee, Myung Jun; Kim, Seong-Jang; Yoon, Uicheul; Park, Do Youn; Jung, Dae Soo; Ahn, Jae Woo; Sung, Suk; Huh, Gi Yeong

    2015-02-15

    We describe detailed clinical, biochemical, neuroimaging and neuropathological features in adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), encompassing hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD), linked to colony-stimulating factor 1 receptor (CSF1R) mutations in four Korean cases. Clinical, biochemical, neuroimaging and neuropathological findings were obtained by direct evaluation and from previous medical records. The genetic analysis of the CSF1R gene was done in two autopsy-confirmed ALSP cases and two cases where ALSP was suspected based on the clinical and neuroimaging characteristics. We identified two known mutations: c.2342C>T (p.A781V) in one autopsy-proven HDLS and clinically ALSP-suspected case and c.2345G>A (p.R782H) in another autopsy-proven POLD case. We also found a novel mutation (c.2296A>G; p.M766V) in a patient presenting with hand tremor, stuttering and hesitant speech, and abnormal behavior whose father died from a possible diagnosis of spinocerebellar ataxia. To the best of our knowledge, this is the first documented ALSP-linked CSF1R mutation in Korea and supports the suggestion that HDLS and POLD, with pathological characteristics that are somewhat different but which are caused by CSF1R mutations, are the same spectrum of disease, ALSP.

  4. Two clinicopathological cases of a dominantly inherited, adult onset orthochromatic leucodystrophy

    PubMed Central

    Letournel, F; Etcharry-Bouyx, F; Verny, C; Barthelaix, A; Dubas, F

    2003-01-01

    The first patient, aged 58 years, had frontal dementia and epilepsy; the second, aged 38 years, had motor signs and dementia, but no epilepsy. The histopathological features of our two cases were leucodystrophy of orthochromatic subtype. However, the radiological features (MRI and mostly FLAIR sequences) of the first case did not suggest leucodystrophy. PMID:12700318

  5. Adult-onset Kaposiform hemangioendothelioma of the tongue: case report and review of the literature

    PubMed Central

    Vashi, P.; Abboud, E.; Bier-Laning, C.; Gupta, D.

    2016-01-01

    We present here a very rare clinical case of a 38-year-old man with Kaposiform hemangioendothelioma (khe) of the tongue who presented to our institution with a growth under the left side of the tongue with no pain or discomfort. There were no enlarged lymph nodes and no significant neurologic findings. Diagnostic histopathology confirmed the lesion to be khe. The tumour was removed surgically, and the surgical specimen confirmed the diagnosis. Follow-up at 3 months shows no clinical evidence of recurrence. PMID:27803613

  6. Rare complication of ventriculoperitoneal shunt. Early onset of distal catheter migration into scrotum in an adult male: Case report and literature review

    PubMed Central

    Lee, Bryan S.; Vadera, Sumeet; Gonzalez-Martinez, Jorge A.

    2014-01-01

    Introduction The role of shunt placement is to divert cerebrospinal fluid from within the ventricles to an alternative location in the setting of hydrocephalus. One of the rare shunt complications is distal catheter migration, and various body sites have been reported, including the scrotum. Although cases of scrotal migration of distal catheter have been reported in pediatric patients, cases in adult patients are rare due to obliterated processus vaginalis. Furthermore, there has not been a case reported for scrotal migration in an adult at an early onset. Presentation of case 65-year-old male underwent shunt placement for normal-pressure hydrocephalus-like symptoms. On post-operative day seven patient developed right testicular edema, for which ultrasound was performed, revealing hydrocele along with the presence of distal catheter in the scrotum. On post-operative day nine patient underwent distal catheter trimming via laparoscopic approach with general surgery, with post-operative imaging showing satisfactory location of distal catheter in the peritoneal cavity. Discussion/Conclusion Early onset of distal catheter migration into scrotum in an adult male is a unique case, as most cases are reported in pediatric patients, and it is the first case reported in the English literature to have occurrence at an early onset during the peri-operative period. As our case demonstrates, early occurrence and detection of scrotal migration of the distal catheter prevent shunt malfunction. Prompt surgical management of catheter repositioning is therefore recommended to avoid the risk of further complications. PMID:25553524

  7. [Recurrent effusive pericarditis in the course of adult-onset Still's disease--case reports of two patients].

    PubMed

    Bilska, Anna; Wilińska, Ewelina; Szturmowicz, Monika; Wawrzyńska, Liliana; Fijałkowska, Anna; Oniszh, Karina; Swiatowiec, Andrzej; Wsół, Agnieszka; Torbicki, Adam

    2011-01-01

    Pericardial effusion is caused by various pathological agents. In differential diagnosis infectious as well as non-infectious factors have to be considered. Adult-onset Still disease (AOSD)--relatively uncommon systemic inflammatory disorder of unknown etiology--is among possible diagnosis. The disease typically affects patients in the age between 16-35 years and is characterized by spiking fever, arthralgia, evanescent salmon rash with other abnormalities including pharingitis, serositis (especially pleuritis and pericarditis) and leucocytosis as well as increased serum levels of inflammatory indicators. We present two patients with recurrent pericardial effusion in the course of AOSD.

  8. Adult-onset opsoclonus-myoclonus syndrome.

    PubMed

    Klaas, James P; Ahlskog, J Eric; Pittock, Sean J; Matsumoto, Joseph Y; Aksamit, Allen J; Bartleson, J D; Kumar, Rajeev; McEvoy, Kathleen F; McKeon, Andrew

    2012-12-01

    BACKGROUND Little is known about adult-onset opsoclonus-myoclonus syndrome (OMS) outside of individual case reports. OBJECTIVE To describe adult-onset OMS. DESIGN Review of medical records (January 1, 1990, through December 31, 2011), prospective telephone surveillance, and literature review (January 1, 1967, through December 31, 2011). SETTING Department of Neurology, Mayo Clinic, Rochester, Minnesota. PATIENTS Twenty-one Mayo Clinic patients and 116 previously reported patients with adult-onset OMS. MAIN OUTCOME MEASURES Clinical course and longitudinal outcomes. RESULTS The median age at onset of the 21 OMS patients at the Mayo Clinic was 47 years (range, 27-78 years); 11 were women. Symptoms reported at the first visit included dizziness, 14 patients; balance difficulties, 14; nausea and/or vomiting, 10; vision abnormalities, 6; tremor/tremulousness, 4; and altered speech, 2. Myoclonus distribution was extremities, 15 patients; craniocervical, 8; and trunk, 4. Cancer was detected in 3 patients (breast adenocarcinoma, 2; and small cell lung carcinoma, 1); a parainfectious cause was assumed in the remainder of the patients. Follow-up of 1 month or more was available for 19 patients (median, 43 months; range, 1-187 months). Treatment (median, 6 weeks) consisted of immunotherapy and symptomatic therapy in 16 patients, immunotherapy alone for 2, and clonazepam alone for 1. Of these 19 patients, OMS remitted in 13 and improved in 3; 3 patients died (neurologic decline, 1; cancer, 1; and myocardial infarction, 1). The cause of death was of paraneoplastic origin in 60 of 116 literature review patients, with the most common carcinomas being lung (33 patients) and breast (7); the most common antibody was antineuronal nuclear antibody type 2 (anti-Ri, 15). Other causes were idiopathic in origin, 38 patients; parainfectious, 15 (human immunodeficiency virus, 7); toxic/metabolic, 2; and other autoimmune, 1. Both patients with N -methyl-D-aspartate receptor antibody had

  9. Adult Onset Still's Disease and Rocky Mountain Spotted Fever.

    PubMed

    Persad, Paul; Patel, Rajendrakumar; Patel, Niki

    2010-01-01

    Adult Still's Disease was first described in 1971 by Bywaters in fourteen adult female patients who presented with symptoms indistinguishable from that of classic childhood Still's Disease (Bywaters, 1971). George Still in 1896 first recognized this triad of quotidian (daily) fevers, evanescent rash, and arthritis in children with what later became known as juvenile inflammatory arthritis (Still, 1990). Adult Onset Still's Disease (AOSD) is an inflammatory condition of unknown etiology characterized by an evanescent rash, quotidian fevers, and arthralgias. Numerous infectious agents have been associated with its presentation. This case is to our knowledge the first presentation of AOSD in the setting of Rocky Mountain Spotted Fever. Although numerous infectious agents have been suggested, the etiology of this disorder remains elusive. Nevertheless, infection may in fact play a role in triggering the onset of symptoms in those with this disorder. Our case presentation is, to our knowledge, the first case of Adult Onset Still's Disease associated with Rocky Mountain spotted fever (RMSF).

  10. Refractory Coats’ Disease of Adult Onset

    PubMed Central

    Beselga, D.; Campos, A.; Mendes, S.; Carvalheira, F.; Castro, M.; Castanheira, D.

    2012-01-01

    Purpose We present the case of an 18-year-old Caucasian male with a unilateral macular star and retinal vascular anomalies compatible with adult onset Coats’ disease. Methods Diagnosis was based on fundoscopic, fluorescein angiography and optical coherence tomography findings. Results The patient presented to our emergency department with complaints of low vision in his left eye (LE) detected 10 days before. The best-corrected visual acuity in the LE was 20/50. Fundoscopy of the LE evidenced a complete macular star. Optical coherence tomography showed increased retinal thickness, infiltration of the retinal wall, and detachment of the neuroepithelium. Angiography revealed no appreciable diffusion in the macula. Above the superior temporal (ST) arcade, anomalies in the retinal vasculature were found, with interruption of the peripheral vessels and vessels which were ‘sausage’-like. After 1 month, the LE vision evolved to hand movements. Laser photocoagulation was performed in the ST quadrant. Intravitreal injection of bevacizumab 1.25 mg/0.05 ml and photodynamic therapy were performed without any significant changes, progression of ST serous detachment of the neuroepithelium, and finally progression to macular fibrosis. Discussion Coats’ disease is usually diagnosed in childhood, but rare cases may occur in adults. Those cases usually have a more indolent course which was not observed in our patient. When there is macular involvement, prognosis is more guarded, despite treatment. PMID:22548045

  11. [Adult-onset rare diseases].

    PubMed

    Pfliegler, György; Kovács, Erzsébet; Kovács, György; Urbán, Krisztián; Nagy, Valéria; Brúgós, Boglárka

    2014-03-02

    The present paper is focusing on rare diseases manifesting in late childhood or adulthood. A part of these syndromes are not of genetic origin, such as relatively or absolutely rare infections, autoimmune diseases, tumours, or diseases due to rare environmental toxic agents. In addition, even a large proportion of genetic disorders may develop in adulthood or may have adult forms as well, affecting are almost each medical specialization. Examples are storage disorders (e.g. adult form of Tay-Sachs disease, Gaucher-disease), enzyme deficiencies (e.g. ornithin-transcarbamylase deficiency of the urea cycle disorders), rare thrombophilias (e.g. homozygous factor V. Leiden mutation, antithrombin deficiency), or some rare monogenic disorders such as Huntington-chorea and many others. It is now generally accepted that at least half of the 6-8000 "rare diseases" belong either to the scope of adult-care (e.g. internal medicine, neurology), or to "age-neutral" specialities such as ophtalmology, dermatology etc.).

  12. Clinical Characteristics of Pediatric-Onset and Adult-Onset Multiple Sclerosis in Hispanic Americans.

    PubMed

    Langille, Megan M; Islam, Talat; Burnett, Margaret; Amezcua, Lilyana

    2016-07-01

    Multiple sclerosis can affect pediatric patients. Our aim was to compare characteristics between pediatric-onset multiple sclerosis and adult-onset multiple sclerosis in Hispanic Americans. This was a cross-sectional analysis of 363 Hispanic American multiple scleroses cases; demographic and clinical characteristics were analyzed. A total of 110 Hispanic patients presented with multiple sclerosis before age 18 and 253 as adult multiple sclerosis. The most common presenting symptoms for both was optic neuritis. Polyfocal symptoms, seizures, and cognitive symptoms at presentation were more prevalent in pediatric-onset multiple sclerosis (P ≤ .001). Transverse myelitis was more frequent in adult-onset multiple sclerosis (P ≤ .001). Using multivariable analysis, pediatric-onset multiple sclerosis (adjusted odds ratio, 0.3OR 95% confidence interval 0.16-0.71, P = .004) and being US born (adjusted odds ratio, 0.553, 95% confidence interval 0.3-1.03, P = .006) were less likely to have severe ambulatory disability. Results suggest that pediatric-onset multiple sclerosis and adult-onset multiple sclerosis in Hispanics have differences that could be important for treatment and prognosis.

  13. Adult-onset idiopathic chondrolysis of the hip.

    PubMed

    Yapp, Liam Z; McClymont, Liusaidh; Beggs, Ian; Gaston, Paul; Salter, Donald M

    2017-05-01

    We report the case of a 23-year-old man diagnosed with adult-onset idiopathic chondrolysis of the hip. Chondrolysis of the hip is a disorder most frequently seen in children who have suffered with slipped capital femoral epiphyses. Idiopathic chondrolysis of the hip is extremely rare and to our knowledge, its onset has never been documented in adults aged over 20. With reference to the available medical literature, we summarise the current clinical management of this unusual but important cause of young adult hip pain.

  14. A case of adult-onset reducing body myopathy presenting a novel clinical feature, asymmetrical involvement of the sternocleidomastoid and trapezius muscles.

    PubMed

    Fujii, Takayuki; Hayashi, Shintaro; Kawamura, Nobutoshi; Higuchi, Masa-Aki; Tsugawa, Jun; Ohyagi, Yasumasa; Hayashi, Yukiko K; Nishino, Ichizo; Kira, Jun-Ichi

    2014-08-15

    We herein report a 32-year-old woman with adult-onset reducing body myopathy (RBM) who had a mutation in the four-and-a-half LIM domain 1 gene (FHL1) and showed a marked asymmetrical involvement of sternocleidomastoid and trapezius muscles. At 30 years of age she noticed bilateral foot drop, and over the next two years developed difficulty raising her right arm. At 32 years of age she was admitted to our hospital for a diagnostic evaluation. Neurological examination showed moderate weakness and atrophy of her right sternocleidomastoid muscle, right trapezius muscle, and bilateral upper proximal muscles. There were severe weakness and atrophy of her bilateral tibialis anterior muscles. Her deep tendon reflexes were hypoactive in her upper extremities. Her serum creatine kinase level was mildly increased. Muscle biopsy specimens from the left tibialis anterior muscle revealed marked variation in fiber size, some necrotic or regenerating fibers, and reducing bodies. Gene analysis of FHL1 demonstrated a mutation: a heterozygous missense mutation of c.377G>A (p. C126T) in FHL1. Compared with previous adult-onset RBM cases harboring mutations in FHL1, our case was characterized by asymmetrical atrophy of the sternocleidomastoid and trapezius muscles.

  15. Clinicopathological features of adult-onset neuronal intranuclear inclusion disease

    PubMed Central

    Sone, Jun; Mori, Keiko; Inagaki, Tomonori; Katsumata, Ryu; Takagi, Shinnosuke; Yokoi, Satoshi; Araki, Kunihiko; Kato, Toshiyasu; Nakamura, Tomohiko; Koike, Haruki; Takashima, Hiroshi; Hashiguchi, Akihiro; Kohno, Yutaka; Kurashige, Takashi; Kuriyama, Masaru; Takiyama, Yoshihisa; Tsuchiya, Mai; Kitagawa, Naoyuki; Kawamoto, Michi; Yoshimura, Hajime; Suto, Yutaka; Nakayasu, Hiroyuki; Uehara, Naoko; Sugiyama, Hiroshi; Takahashi, Makoto; Kokubun, Norito; Konno, Takuya; Katsuno, Masahisa; Tanaka, Fumiaki; Iwasaki, Yasushi; Yoshida, Mari

    2016-01-01

    Neuronal intranuclear inclusion disease (NIID) is a slowly progressive neurodegenerative disease characterized by eosinophilic hyaline intranuclear inclusions in the central and peripheral nervous system, and also in the visceral organs. NIID has been considered to be a heterogeneous disease because of the highly variable clinical manifestations, and ante-mortem diagnosis has been difficult. However, since we reported the usefulness of skin biopsy for the diagnosis of NIID, the number of NIID diagnoses has increased, in particular adult-onset NIID. In this study, we studied 57 cases of adult-onset NIID and described their clinical and pathological features. We analysed both NIID cases diagnosed by post-mortem dissection and by ante-mortem skin biopsy based on the presence of characteristic eosinophilic, hyaline and ubiquitin-positive intanuclear inclusion: 38 sporadic cases and 19 familial cases, from six families. In the sporadic NIID cases with onset age from 51 to 76, dementia was the most prominent initial symptom (94.7%) as designated ‘dementia dominant group’, followed by miosis, ataxia and unconsciousness. Muscle weakness and sensory disturbance were also observed. It was observed that, in familial NIID cases with onset age less than 40 years, muscle weakness was seen most frequently (100%), as designated ‘limb weakness group’, followed by sensory disturbance, miosis, bladder dysfunction, and dementia. In familial cases with more than 40 years of onset age, dementia was most prominent (100%). Elevated cerebrospinal fluid protein and abnormal nerve conduction were frequently observed in both sporadic and familial NIID cases. Head magnetic resonance imaging showed high intensity signal in corticomedullary junction in diffusion-weighted image in both sporadic and familial NIID cases, a strong clue to the diagnosis. All of the dementia dominant cases presented with this type of leukoencephalopathy on head magnetic resonance imaging. Both sporadic and

  16. Co-existing spinal intradural ependymal cyst and sacral Tarlov cyst in adult-onset tethered cord syndrome with syringomyelia: Case report and literature review

    PubMed Central

    Rai, Hamid H.; Khan, Muhammad F.; Enam, Syed Ather; Hashmi, Imtiaz

    2016-01-01

    Background: Synchronous spinal intradural ependymal cysts and sacral Tarlov cysts in adult onset tethered cord syndrome are extremely rare. Case Description: A 23-year-old male presented with back pain radiating into both lower extremities, accompanied by acute onset of gait difficulty and sphincter dysfunction. Magnetic resonance imaging identified a low lying conus medullaris, syringomyelia with septations extending from T12 to S1, a tethered cord, and a thickened filum terminale with a sacral Tarlov cyst. The patient underwent a L3-4 laminectomy for decompression of syringomyelia and excision/biopsy of a space occupying lesion along with S1-2 laminectomy for cord untethering and Tarlov cyst fenestration. Postoperative histopathology confirmed that the lesion was an ependymal cyst. Clinically, patient showed marked improvement in the neurological status. Conclusion: Simultaneous decompressive laminectomy of L3-4 and S1-2 effectively decompressed the syringomyelia while allowing for excision/biopsy of a space occupying lesion at the former and untethering and Tarlov cyst fenestration at the latter levels. PMID:27843691

  17. Adult Onset Asthma and Periocular Xanthogranuloma (AAPOX), a Rare Entity With a Strong Link to IgG4-Related Disease: An Observational Case Report Study.

    PubMed

    London, Jonathan; Martin, Antoine; Soussan, Michael; Badelon, Isabelle; Gille, Thomas; Uzunhan, Yurdagul; Giroux-Leprieur, Bénédicte; Warzocha, Ursula; Régent, Alexis; Galatoire, Olivier; Dhote, Robin; Abad, Sébastien

    2015-10-01

    Adult onset asthma and periocular xanthogranuloma (AAPOX) is a rare non-Langerhans histiocytosis characterized histopathologically by a periocular infiltration of foamy histiocytes and Touton giant cells. Benign hyperplasia with plasma cell infiltration is classically described in eyelids or lymph nodes of AAPOX patients. It is also a characteristic feature of IgG4-related disease (IgG4-RD), a new entity defined by an IgG4-bearing plasma cell infiltration of organs.To determine if AAPOX syndrome shares clinical, biological, and histopathological characteristics with IgG4-RD, we used the comprehensive clinical diagnostic criteria for IgG4-RD in a retrospective case series of three consecutive patients with histologically-proven AAPOX. Patients who were diagnosed with AAPOX at a French academic referral center for orbital inflammation between November 1996 and March 2013 were enrolled. Biopsies from ocular adnexa or other organs were systematically reexamined. For each patient, clinical and serological data, radiologic findings, and treatment were retrospectively analyzed.Two AAPOX patients fulfilled all of the diagnostic criteria for a definite IgG4-RD. One patient who lacked the serological criteria fulfilled the criteria of a probable IgG4-RD.These 3 cases of AAPOX patients fulfilled the IgG4-RD comprehensive clinical diagnostic criteria. To our knowledge, this is the first observational case report study to clearly show a strong relationship between IgG4-RD and AAPOX syndrome.

  18. Season of Birth and Risk for Adult Onset Glioma

    PubMed Central

    Efird, Jimmy T.

    2010-01-01

    Adult onset glioma is a rare cancer which occurs more frequently in Caucasians than African Americans, and in men than women. The etiology of this disease is largely unknown. Exposure to ionizing radiation is the only well established environmental risk factor, and this factor explains only a small percentage of cases. Several recent studies have reported an association between season of birth and glioma risk. This paper reviews the plausibility of evidence focusing on the seasonal interrelation of farming, allergies, viruses, vitamin D, diet, birth weight, and handedness. To date, a convincing explanation for the occurrence of adult gliomas decades after a seasonal exposure at birth remains elusive. PMID:20623001

  19. Phenotypes, Risk Factors, and Mechanisms of Adult-Onset Asthma

    PubMed Central

    Ilmarinen, Pinja; Tuomisto, Leena E.; Kankaanranta, Hannu

    2015-01-01

    Asthma is a heterogeneous disease with many phenotypes, and age at disease onset is an important factor in separating the phenotypes. Genetic factors, atopy, and early respiratory tract infections are well-recognized factors predisposing to childhood-onset asthma. Adult-onset asthma is more often associated with obesity, smoking, depression, or other life-style or environmental factors, even though genetic factors and respiratory tract infections may also play a role in adult-onset disease. Adult-onset asthma is characterized by absence of atopy and is often severe requiring treatment with high dose of inhaled and/or oral steroids. Variety of risk factors and nonatopic nature of adult-onset disease suggest that variety of mechanisms is involved in the disease pathogenesis and that these mechanisms differ from the pathobiology of childhood-onset asthma with prevailing Th2 airway inflammation. Recognition of the mechanisms and mediators that drive the adult-onset disease helps to develop novel strategies for the treatment. The aim of this review was to summarize the current knowledge on the pathogenesis of adult-onset asthma and to concentrate on the mechanisms and mediators involved in establishing adult-onset asthma in response to specific risk factors. We also discuss the involvement of these mechanisms in the currently recognized phenotypes of adult-onset asthma. PMID:26538828

  20. Adult onset pigmentary orthochromatic leukodystrophy with ovarian dysgenesis.

    PubMed

    Verghese, J; Weidenheim, K; Malik, S; Rapin, I

    2002-11-01

    Pigmentary type of orthochromatic leukodystrophy (POLD) is an adult-onset leukodystrophy, characterized pathologically by the presence of glial and microglial cytoplasmic pigment inclusions. The complete phenotype, genotype and pathogenetic mechanisms in POLD have not been elucidated. We followed for 18 years a woman with autopsy-proven POLD, who presented with 'frontal' dementia and spasticity. Her further course was marked by progressive mutism, apraxia and seizures. Her sister had died of the same disease after a much more rapidly progressing course. These sisters had primary infertility with pathologic evidence of streak ovaries. Diagnosis was confirmed in both cases by post-mortem examination. POLD is a rare cause of adult-onset leukodystrophy presenting with dementia. Ovarian dysgenesis is extremely rare in the absence of demonstrable chromosomal abnormalities and extends the clinical spectrum of POLD.

  1. Update on differences between childhood-onset and adult-onset systemic lupus erythematosus

    PubMed Central

    2013-01-01

    Systemic lupus erythematosus (SLE) is a complex autoimmune disease and occurs worldwide in both children and adults. The estimated annual incidence among children is 2.22/100,000 and among adults is 23.2/100,000 in the United States. There is increasing understanding about differences in disease manifestations, medication use, and disease severity between those with childhood-onset SLE as compared with adult-onset SLE. Children have a more fulminant disease onset and course than adults with SLE, resulting in two to three times higher mortality. In future years, we anticipate more insight into the genetics between childhood-onset SLE and adult-onset SLE to help delineate the best therapies for both subsets of patients. PMID:23998441

  2. Childhood Onset Schizophrenia: Cortical Brain Abnormalities as Young Adults

    ERIC Educational Resources Information Center

    Greenstein, Deanna; Lerch, Jason; Shaw, Philip; Clasen, Liv; Giedd, Jay; Gochman, Peter; Rapoport, Judith; Gogtay, Nitin

    2006-01-01

    Background: Childhood onset schizophrenia (COS) is a rare but severe form of the adult onset disorder. While structural brain imaging studies show robust, widespread, and progressive gray matter loss in COS during adolescence, there have been no longitudinal studies of sufficient duration to examine comparability with the more common adult onset…

  3. Hepatitis A infection mimicking adult onset Still's disease.

    PubMed

    Sridharan, S; Mossad, S; Hoffman, G

    2000-07-01

    Fever, rash, and arthritis may be components of the prodrome of viral hepatitis. In the absence of jaundice and abnormal liver function tests, this form of polyarthritis is easily confused with primary autoimmune diseases. Whereas the association of systemic illness with musculoskeletal symptoms and numerous viral infections is well known, such an association with hepatitis A has only been rarely reported. We describe a case of hepatitis A infection mimicking adult onset Still's disease, and review the pathogenesis and differential diagnosis of Still's disease and the extraarticular manifestations of hepatitis.

  4. Adult-onset cerebello-brainstem dominant form of X-linked adrenoleukodystrophy presenting as multiple system atrophy: Case report and literature review

    PubMed Central

    Ogaki, Kotaro; Koga, Shunsuke; Aoki, Naoya; Lin, Wenlang; Suzuki, Kinuko; Ross, Owen A.; Dickson, Dennis W.

    2015-01-01

    X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder and is caused by ABCD1 mutations. A cerebello-brainstem dominant form that mainly involves the cerebellum and brainstem is summarized in a review of the literature, with autopsy confirmed cases exceedingly rare. We report a 69-year-old white man who was diagnosed with this rare disorder and describe neuropathologic, ultrastructural and genetic analyses. He did not have adrenal insufficiency or a family history of X-ALD or Addison’s disease. His initial symptom was temporary loss of eyesight at age 34 years. His major symptoms were chronic and progressive gait disorder, weakness in his lower extremities, and spasticity, as well as autonomic failure and cerebellar ataxia suggesting possible multiple system atrophy (MSA). He also had seizures, hearing loss, and sensory disturbances. His brain MRI showed no obvious atrophy or significant white matter pathology in cerebrum, brainstem or cerebellum. He died at age 69 years with a diagnosis of multiple system atrophy. Microscopic analysis showed mild, patchy myelin rarefaction with perivascular clusters of PAS-positive, CD68-positive macrophages in the white matter most prominent in the cerebellum and occipital lobe, but also affecting optic tract and internal capsule. Electron microscopy of cerebellar white matter showed cleft-like trilamellar cytoplasmic inclusions in macrophages typical of X-ALD, which prompted genetic analysis that revealed a novel ABCD1 mutation, p.R163G. Given the relatively mild pathological findings and long disease duration, it is likely that the observed pathology was the result of a slow and indolent disease process. We described a patient who had sporadic cerebello-brainstem dominant form of X-ALD with long clinical course, mild pathological findings, and an ABCD1 p.R163G substitution. We also review a total of 34 cases of adult-onset cerebello-brainstem dominant form of X-ALD. Although rare, X-ALD should be

  5. New onset of idiopathic bilateral ear tics in an adult.

    PubMed

    Agrawal, Amit; Shrestha, Rabin

    2009-04-01

    Tic disorders are commonly considered to be childhood syndromes. Newly presenting tic disorders during adulthood are uncommon and mostly described in relation to an acquired brain lesion or as incidental tics, particularly in context with other neurological or psychiatric diseases. Tic disorder involving the ears is extremely uncommon with only few studies in English literature. In the present case, we describe an adult patient with new-onset idiopathic tics disorder involving both ears, causing social embarrassment. In addition, our patient had recent onset of the tics without any childhood or family history of tic disorders. The single most important component of management is an accurate diagnosis. At the same time, tics should be differentiated from other movement disorders such as chorea, stereotypy, and dystonias.

  6. Interleukin 6 SNP rs1800797 associates with the risk of adult-onset asthma.

    PubMed

    Lajunen, T K; Jaakkola, J J K; Jaakkola, M S

    2016-04-01

    Interleukin 6 (IL6) is an inflammatory cytokine that has been suggested to have an important role in the pathogenesis of asthma. IL6 single-nucleotide polymorphisms (SNPs) have been associated with levels of IL6, and with childhood and prevalent adult asthma. A recent study also suggested that IL6 SNPs associate especially with atopic asthma. However, association of IL6 SNPs with adult-onset asthma has not been studied. In a population-based study of 467 incident adult-onset asthma cases and 613 disease-free controls from South Finland, we analyzed association of 6 tagging SNPs of the IL6 locus with the risk of adult-onset asthma and with atopy. Asthma was clinically diagnosed, and atopy was defined based on Phadiatop test. IL6 SNP rs1800797 associated with the risk of adult-onset asthma in a log additive model, with adjusted odds ratio (aOR) 1.31 (95% confidence interval 1.09-1.57), and especially with the risk of atopic adult-onset asthma when compared with non-atopic controls, aOR 1.46 (95% CI 1.12-1.90). This is the first study to show an association of IL6 with adult-onset asthma, and especially with atopic adult-onset asthma.

  7. Is Adolescent-Onset First-Episode Psychosis Different from Adult Onset?

    ERIC Educational Resources Information Center

    Ballageer, Trevor; Malla, Ashok; Manchanda, Rahul; Takhar, Jatinder; Haricharan, Raj

    2005-01-01

    Objective: To examine whether first-episode psychosis patients with onset during adolescence (ages 15-18) differ significantly from those with young-adult onset (ages 19-30). Method: Consecutive patients presenting with first-episode psychosis (N = 242) were assessed for demographic and illness characteristics such as duration of untreated…

  8. An autopsied case of adult-onset bulbospinalform Alexander disease with a novel S393R mutation in the GFAP gene.

    PubMed

    Iwasaki, Yasushi; Saito, Yufuko; Mori, Keiko; Ito, Masumi; Mimuro, Maya; Aiba, Ikuko; Saito, Kozo; Mizuta, Ikuko; Yoshida, Tomokatsu; Nakagawa, Masanori; Yoshida, Mari

    2015-01-01

    A 50-year-old Japanese man with no apparent family history noticed diplopia. He gradually showed gait disturbance and dysuria. Abducens disorder of eye movement with nystagmus, tongue atrophy with fasciculation, spastic tetraparesis, and sensory disturbance were also observed. MRI showed severe atrophy of the medulla oblongata to the cervical cord ("tadpole appearance"). Tracheotomy and gastrostomy were performed 7 years after onset due to the development of bulbar palsy. Death occurred following respiratory failure after 11 years total disease duration. The brain weighed 1,380 g. The cerebrum, cerebellum, midbrain, and upper pons were preserved from atrophy, but the medulla oblongata to the cervical cord showed severe atrophy. A few Rosenthal fibers were observed in the cerebral white matter, basal ganglia, and cerebellum, whereas numerous Rosenthal fibers were observed in the medulla oblongata to the cervical cord. Myelin loss with relatively preserved axons was extensively observed from the middle of the pons to the spinal cord. The clinicopathological diagnosis was adult-onset bulbospinal-form Alexander disease. Glial fibrillary acidic protein (GFAP) gene analysis revealed a novel mutation of S393R. Expression patterns of S393R mutant GFAP using adrenal carcinoma-derived cells (SW13 cells) showed a decreased number of filamentous structures and abnormal aggregates.

  9. [Kimura's disease: an unrecognized cause of adult-onset nephrotic syndrome with minimal change disease].

    PubMed

    Shehwaro, N; Langlois, A-L; Gueutin, V; Debchi, L; Charlotte, F; Rouvier, P; Rottembourg, J; Izzedine, H

    2014-02-01

    Kimura's disease (KD) is an angiolymphoid proliferative disorder of soft tissue with eosinophilia, with a predilection for head and neck regions in young Oriental men. Kidney disease is thought to be rare in KD. About a case of adult-onset nephrotic syndrome with minimal change disease, we comment Kimura's disease and its associated kidney damage. Kimura disease should be suspected and included in the diagnosis of adult-onset nephrotic syndrome with minimal change disease.

  10. Parenchymal lung involvement in adult-onset Still disease

    PubMed Central

    Gerfaud-Valentin, Mathieu; Cottin, Vincent; Jamilloux, Yvan; Hot, Arnaud; Gaillard-Coadon, Agathe; Durieu, Isabelle; Broussolle, Christiane; Iwaz, Jean; Sève, Pascal

    2016-01-01

    Abstract Parenchymal lung involvement (PLI) in adult-onset Still's disease (AOSD) has seldom, if ever, been studied. We examine here retrospective cohort AOSD cases and present a review of the literature (1971–2014) on AOSD-related PLI cases. Patients with PLI were identified in 57 AOSD cases. For inclusion, the patients had to fulfill Yamaguchi or Fautrel classification criteria, show respiratory symptoms, and have imaging evidence of pulmonary involvement, and data allowing exclusion of infectious, cardiogenic, toxic, or iatrogenic cause of PLI should be available. This AOSD + PLI group was compared with a control group (non–PLI-complicated AOSD cases from the same cohort). AOSD + PLI was found in 3 out of the 57 patients with AOSD (5.3%) and the literature mentioned 27 patients. Among these 30 AOSD + PLI cases, 12 presented an acute respiratory distress syndrome (ARDS) and the remaining 18 another PLI. In the latter, a nonspecific interstitial pneumonia computed tomography pattern prevailed in the lower lobes, pulmonary function tests showed a restrictive lung function, the alveolar differential cell count was neutrophilic in half of the cases, and the histological findings were consistent with bronchiolitis and nonspecific interstitial pneumonia. Corticosteroids were fully efficient in all but 3 patients. Ten out of 12 ARDS cases occurred during the first year of the disease course. All ARDS-complicated AOSD cases received corticosteroids with favorable outcomes in 10 (2 deceased). Most PLIs occurred during the systemic onset of AOSD. PLI may occur in 5% of AOSDs, of which ARDS is the most severe. Very often, corticosteroids are efficient in controlling this complication. PMID:27472698

  11. [Atypical onset cryoglobulinemia: case report].

    PubMed

    Consolo, M; Amoroso, A; D'Amico, G; La Rosa, L; Vinci, M

    2012-01-01

    Cryoglobulinemia is a disease mediated by antibodies with the property to precipitate at temperatures below 37°C. It can be distinguished into a primitive form (also referred to as 'essential mixed cryoglobulinemia'), and a secondary form. In the essential mixed variant a key role is played by HCV infection. The pathogenesis of mixed cryoglobulinemia is mediated by immune complexes that are the most important cause of the vasculitic phenomena, typical of the disease. However, the severity of the clinical manifestations is not always related to the serum levels of cryoglobulins and immune complexes. In our case report, a 46-year old man came to our observation with asymmetric diffuse and invalidating arthralgies, with both substitutive and additive behaviour, located at pelvic girdle, inferior limbs and elbows, associated to skin lesion vascultis-like. The remote pathological anamnesis was characterized by a previous surgically treated non-Hodgkin lymphoma, and HCV infection. Despite several attempts were done, it was not possible to reveal cryoglobulins, nor reumatoid factor in the serum. Cryoglobulins resulted positive only after the third day of hospitalization, along with a new fever attack and a worsening of the vasculitic manifestations. In conclusion, this case demonstrated that cryoglobulinemia can occur with a totally atypical sequence of clinical manifestations which can be present before and in absence of the typical laboratory proofs.

  12. Refractory Genital HPV Infection and Adult-Onset Still Disease

    PubMed Central

    Yu, Xin; Zheng, Heyi

    2016-01-01

    Abstract Adult-onset Still disease (AOSD) is a systemic autoimmune disease (AIID) that can develop after exposure to infectious agents. Genital human papillomavirus (HPV) infection has been reported to induce or exacerbate AIIDs, such as systemic lupus erythematosus (SLE). No guidelines are available for the management of genital warts in AOSD. Case report and literature review. We report a patient who was diagnosed AOSD in the setting of refractory and recurrent genital HPV infection, demonstrating a possible link between HPV infection and AOSD. In addition, we also discuss the management of genital warts in patients with AOSD. To the best of our knowledge, no previous cases of AOSD with genital HPV infection have been reported in literature. We then conclude that the patient AOSD may be triggered by primary HPV infection. Larger number of patient samples is needed to confirm whether HPV could trigger AOSD. PMID:27082556

  13. Maturity of judgement in decision making for predictive testing for nontreatable adult-onset neurogenetic conditions: a case against predictive testing of minors.

    PubMed

    Richards, F H

    2006-11-01

    International guidelines developed to minimize harm from predictive testing for adult-onset, nontreatable neurogenetic conditions such as Huntington disease (HD) state that such testing should not be available to minors. Some authors have proposed that predictive testing for these conditions should be available to minors at the request of parents and/or of younger adolescents themselves. They highlight the lack of empirical evidence that predictive testing of minors causes harm and suggest that refusing to test minors may be detrimental. The current study focuses on the context of predictive test requests by adolescents younger than 18 years, and presents arguments and evidence that the risk of potential harm from testing such young people is sufficiently high to justify continued caution in this area. A study based on a model of psychosocial maturity found that the 3 factors involved in maturity of judgement in decision making - responsibility, temperance and perspective - continue to develop into late adolescence. There is also evidence that the prefrontal areas of the brain, which are involved in executive functions such as decision making, are not fully developed until early adulthood. Combined with evidence of adverse long-term effects, from research with adults who have undergone predictive testing, these findings constitute grounds for retaining a minimum age of 18 years for predictive testing for nontreatable conditions. Further research on assessment of maturity will assist with reaching a consensus on this issue.

  14. Huntington Disease: A Case Study of Early Onset Presenting as Depression

    ERIC Educational Resources Information Center

    Duesterhus, Pia; Schimmelmann, Benno Graf; Wittkugel, Oliver; Schulte-Markwort, Michael

    2004-01-01

    Huntington disease is a dominantly inherited, neurodegenerative disease characterized by choreiform movement disturbances and dementia, usually with adult onset. The rare juvenile-onset Huntington disease differs from the adult phenotype. A case presenting twice, at age 10 with all the signs of a major depression and age 14 with mutism and…

  15. Young-onset parkinsonism in a Hong Kong Chinese man with adult-onset Hallervorden-Spatz syndrome.

    PubMed

    Mak, Chloe Miu; Sheng, Bun; Lee, Hencher Han-chih; Lau, Kwok-kwong; Chan, Wing-tak; Lam, Ching-wan; Chan, Yan-wo

    2011-04-01

    Neurodegeneration with brain iron accumulation (NBIA) is a heterogeneous group of disorders varied in genetic etiologies, clinical presentations, and radiological features. NBIA is an iron homeostasis disorder with progressive iron accumulation in the central nervous systems and is clinically characterized by extrapyramidal movement abnormalities, retinal pigmentary changes, and cognitive impairment. Panthothenate kinase-associated neurodegeneration (Hallervorden-Spatz disease) is the commonest disorder of NBIA with a prevalence of one-three per million. Clinically, it is classified into early-onset childhood, atypical late-onset, and adult-onset type. Adult-onset type is rarer. We report the first case of adult-onset panthothenate kinase-associated neurodegeneration in Hong Kong in a 28-year-old Chinese man who presented with pure young-onset parkinsonism. Magnetic resonance imaging (MRI) of the brain showed the presence of eye-of-the-tiger sign. Two compound heterozygous mutations PANK2 NM_153638.2: c.445G > T; NP_705902.2: p.E149X and PANK2 NM_153638.2: c.1133A > G; NP_705902.2: p.D378G were detected. Parkinsonism per se is a very heterogeneous phenotypic group. In view of the readily available genetic analysis of PANK2, panthothenate kinase-associated neurodegeneration should be considered in adult patients with young-onset parkinsonism with or without the eye-of-the-tiger sign. The exact diagnosis offers a different management approach and genetic counseling. NBIA is likely under- or misdiagnosed in Hong Kong Chinese.

  16. Efficacy of Anakinra in Refractory Adult-Onset Still's Disease

    PubMed Central

    Ortiz-Sanjuán, Francisco; Blanco, Ricardo; Riancho-Zarrabeitia, Leyre; Castañeda, Santos; Olivé, Alejandro; Riveros, Anne; Velloso-Feijoo, María.L.; Narváez, Javier; Jiménez-Moleón, Inmaculada; Maiz-Alonso, Olga; Ordóñez, Carmen; Bernal, José A.; Hernández, María V.; Sifuentes-Giraldo, Walter A.; Gómez-Arango, Catalina; Galíndez-Agirregoikoa, Eva; Blanco-Madrigal, Juan; Ortiz-Santamaria, Vera; del Blanco-Barnusell, Jordi; De Dios, Juan R.; Moreno, Mireia; Fiter, Jordi; Riscos, Marina de los; Carreira, Patricia; Rodriguez-Valls, María J.; González-Vela, M. Carmen; Calvo-Río, Vanesa; Loricera, Javier; Palmou-Fontana, Natalia; Pina, Trinitario; Llorca, Javier; González-Gay, Miguel A.

    2015-01-01

    Abstract Adult-onset Still's disease (AOSD) is often refractory to standard therapy. Anakinra (ANK), an interleukin-1 receptor antagonist, has demonstrated efficacy in single cases and small series of AOSD. We assessed the efficacy of ANK in a series of AOSD patients. Multicenter retrospective open-label study. ANK was used due to lack of efficacy to standard synthetic immunosuppressive drugs and in some cases also to at least 1 biologic agent. Forty-one patients (26 women/15 men) were recruited. They had a mean age of 34.4 ± 14 years and a median [interquartile range (IQR)] AOSD duration of 3.5 [2–6] years before ANK onset. At that time the most common clinical features were joint manifestations 87.8%, fever 78%, and cutaneous rash 58.5%. ANK yielded rapid and maintained clinical and laboratory improvement. After 1 year of therapy, the frequency of joint and cutaneous manifestations had decreased to 41.5% and to 7.3% respectively, fever from 78% to 14.6%, anemia from 56.1% to 9.8%, and lymphadenopathy from 26.8% to 4.9%. A dramatic improvement of laboratory parameters was also achieved. The median [IQR] prednisone dose was also reduced from 20 [11.3–47.5] mg/day at ANK onset to 5 [0–10] at 12 months. After a median [IQR] follow-up of 16 [5–50] months, the most important side effects were cutaneous manifestations (n = 8), mild leukopenia (n = 3), myopathy (n = 1), and infections (n = 5). ANK is associated with rapid and maintained clinical and laboratory improvement, even in nonresponders to other biologic agents. However, joint manifestations are more refractory than the systemic manifestations. PMID:26426623

  17. An atypical presentation of adult-onset Still’s disease complicated by pulmonary hypertension and macrophage activation syndrome treated with immunosuppression: a case-based review of the literature

    PubMed Central

    Manson, Daniel K.; Horn, Evelyn M.; Haythe, Jennifer

    2016-01-01

    Abstract Pulmonary arterial hypertension (PAH) is a known complication of rheumatologic diseases, but it is only rarely associated with adult-onset Still’s disease (AOSD). We describe the case of a 30-year-old woman who presented in a pulmonary hypertension crisis and was found to have underlying AOSD with PAH and nonspecific interstitial pneumonia (NSIP) with a course complicated by macrophage activation syndrome (MAS). She dramatically improved with steroids, cyclosporine A, and anakinra, with total resolution of the MAS and significant improvement of her pulmonary arterial pressures. While there are only select case reports of AOSD associated with PAH, this is the first reported case of (1) AOSD complicated by both PAH and MAS and (2) AOSD complicated by biopsy-proven NSIP. Clinically, this case highlights the efficacy of immunosuppressive agents in the treatment of PAH and MAS from underlying AOSD and supports their use in this setting. PMID:27162622

  18. Adult-onset acute rheumatic fever.

    PubMed

    Nakashima, Dainari; Ueda, Kohei; Tsukuda, Kyozo; Utsu, Noriaki; Kohki, Shimazu; Fushimi, Hiroaki; Miyakoshi, Kazuho

    2012-01-01

    A 62-year-old man was hospitalized for acute rheumatic fever. He had previously suffered from rheumatic fever at 15 years of age. The rheumatic fever was complicated by carditis, which caused valve disease that required surgical treatment. The incidence of rheumatic fever has decreased in most developed countries with improvements in sanitary conditions. The low incidence of this disease makes a timely and accurate diagnosis difficult. Due to the fact that both the first occurrence and recurrence of acute rheumatic fever can occur in the elderly and adults, this potential disease should not be overlooked when making a differential diagnosis.

  19. Adult-onset amenorrhea: a study of 262 patients.

    PubMed

    Reindollar, R H; Novak, M; Tho, S P; McDonough, P G

    1986-09-01

    A series of 262 patients with amenorrhea of adult onset are reported. Hypothalamic suppression followed by inappropriate positive feedback, and then hyperprolactinemia and ovarian failure are the most frequently encountered etiologies. Other etiologies are diverse and numerically less frequent. Amenorrhea after use of oral contraceptives, or postpill amenorrhea, occurred in 77 (29%) of all patients. The average age of presentation, prior menstrual history, associated morbidity, and subsequent reproductive potential of each diagnostic group are reported. Adult-onset amenorrhea has a less significant impact on future wellbeing than was reported for a similar-sized group of patients whose amenorrhea developed as a result of pubertal aberrancy.

  20. Etiopathogenesis and Therapeutic Approach to Adult Onset Acne

    PubMed Central

    Kaur, Sarabjit; Verma, Poonam; Sangwan, Ankita; Dayal, Surabhi; Jain, Vijay Kumar

    2016-01-01

    Acne vulgaris is usually considered as a skin disorder that primarily affects adolescents reaching a peak at the age of 14–17 years in females and 16–19 years in males. However, recent epidemiologic studies have shown that a significant number of female patients aged >25 years experience acne. As it is regarded as a disease of teenagers, adults are more apprehensive and experience social anxiety. Hence, adult onset acne has become a matter of concern. PMID:27512185

  1. Niemann-Pick type C: focus on the adolescent/adult onset form.

    PubMed

    Di Lazzaro, Vincenzo; Marano, Massimo; Florio, Lucia; De Santis, Stefano

    2016-11-01

    Niemann-Pick disease type C (NP-C) is an inherited sphingolipidosis characterized by progressive neurological deterioration and early mortality. The symptomatology and disease progression of NP-C are markedly affected by the age at onset of neurological manifestations, and categorization into early-infantile, late-infantile, juvenile, adolescent/adult neurological onset forms can aid evaluation of disease course and responses to therapy. Here, we review current information on the detection, diagnosis, monitoring and treatment of NP-C, with a focus on the adolescent/adult-onset form. A recent analysis indicated that the combined incidence of NP-C related to NPC1 gene mutations (NPC1) and NP-C related to NPC2 gene mutations (NPC2) is approximately 1 case in every 89 000 live births. In particular, late-onset phenotypes might well provide a greater contribution to the overall incidence than has previously been reported. Some neuropathological features in NP-C are held in common with other advanced age-onset diseases such as Alzheimer's disease. Visceral symptoms such as splenomegaly are frequently asymptomatic in patients with adolescent/adult-onset NP-C, and are only occasionally detected during routine ultrasound assessments. In contrast, most patients with adolescent/adult-onset exhibit some degree of slowly progressive, non-disease-specific movement disorders (e.g. cerebellar ataxia), and/or more pathognomonic neurological signs such as vertical supranuclear gaze palsy. An increasing number of adolescent/adult-onset cases have been reported following initial recognition of cognitive impairment and/or psychiatric signs. The recent development and implementation of new clinical screening tools (e.g. the NP-C suspicion index) and biomarkers (e.g. plasma oxysterols) should help identify patients who warrant further investigation and possible treatment.

  2. Clinical profile of patients with adult-onset eosinophilic asthma

    PubMed Central

    Storm, Huib; Amelink, Marijke; de Nijs, Selma B.; Eichhorn, Edwin; Reitsma, Bennie H.; Bel, Elisabeth H.D.; ten Brinke, Anneke

    2016-01-01

    Adult-onset eosinophilic asthma is increasingly recognised as a severe and difficult-to-treat subtype of asthma. In clinical practice, early recognition of patients with this asthma subtype is important because it may have treatment implications. Therefore, physicians need to know the distinct characteristics of this asthma phenotype. The objective of the present study was to determine the characteristic profile of patients with adult-onset eosinophilic asthma. 130 patients with adult-onset (>18 years of age) asthma and high blood eosinophil counts (≥0.3×109 L−1) were compared with 361 adult-onset asthma patients with low (<0.3×109 L−1) blood eosinophils. Measurements included a series of clinical, functional and imaging parameters. Patients with high blood eosinophils were more often male, had less well controlled asthma and higher exacerbation rates, despite the use of higher doses of inhaled corticosteroids. They had higher levels of total IgE without more sensitisation to common inhaled allergens. In addition, these patients had worse lung function, and more often showed fixed airflow limitation, air trapping, nasal polyposis and abnormalities on sinus computed tomography scanning. Chronic rhinosinusitis, air trapping and male sex were three independent factors associated with blood eosinophilia (adjusted OR 3.8 (95% CI 1.7–8.1), 3.0 (95% CI 1.1–8.1) and 2.4 (95% CI 1.3–4.4), respectively). Patients with adult-onset asthma with elevated blood eosinophils exhibit a distinct profile, which can readily be recognised in clinical practice. PMID:27730197

  3. Clinical profile of patients with adult-onset eosinophilic asthma.

    PubMed

    de Groot, Jantina C; Storm, Huib; Amelink, Marijke; de Nijs, Selma B; Eichhorn, Edwin; Reitsma, Bennie H; Bel, Elisabeth H D; Ten Brinke, Anneke

    2016-04-01

    Adult-onset eosinophilic asthma is increasingly recognised as a severe and difficult-to-treat subtype of asthma. In clinical practice, early recognition of patients with this asthma subtype is important because it may have treatment implications. Therefore, physicians need to know the distinct characteristics of this asthma phenotype. The objective of the present study was to determine the characteristic profile of patients with adult-onset eosinophilic asthma. 130 patients with adult-onset (>18 years of age) asthma and high blood eosinophil counts (≥0.3×10(9) L(-1)) were compared with 361 adult-onset asthma patients with low (<0.3×10(9) L(-1)) blood eosinophils. Measurements included a series of clinical, functional and imaging parameters. Patients with high blood eosinophils were more often male, had less well controlled asthma and higher exacerbation rates, despite the use of higher doses of inhaled corticosteroids. They had higher levels of total IgE without more sensitisation to common inhaled allergens. In addition, these patients had worse lung function, and more often showed fixed airflow limitation, air trapping, nasal polyposis and abnormalities on sinus computed tomography scanning. Chronic rhinosinusitis, air trapping and male sex were three independent factors associated with blood eosinophilia (adjusted OR 3.8 (95% CI 1.7-8.1), 3.0 (95% CI 1.1-8.1) and 2.4 (95% CI 1.3-4.4), respectively). Patients with adult-onset asthma with elevated blood eosinophils exhibit a distinct profile, which can readily be recognised in clinical practice.

  4. Epidemiology and outcome of articular complications in adult onset Still's disease.

    PubMed

    Mahfoudhi, Madiha; Shimi, Rafik; Turki, Sami; Kheder, Adel

    2015-01-01

    The adult onset Still's disease is a rare inflammatory pathology of unknown pathogeny. The clinical features are variable. The diagnosis is difficult since exclusion of infectious, systemic and tumoral pathologies should be done. The articular complications are frequent and can be revelatory of this pathology. The articular prognosis depends on the diagnosis delay and the treatment efficiency. Our study aims to analyze different aspects of articular manifestations complicating adult onset Still disease to define epidemiological, clinical and evolving characteristics of these complications. It was a cross-sectional study concerning 18 cases of adult onset Still disease diagnosed from 1990 to 2014 in the internal medicine A department of Charles Nicolle Hospital in Tunis, meeting Yamaguchi criteria. We identified clinical, radiological, evolving and therapeutic profile of the articular manifestations occurred in these patients. There were 11 women and 7 men. The average age was 27 years. The arthralgias were reported in all cases; while, the arthritis interested thirteen patients. A hand deformation was found in four patients. A wrist ankylosis was noted in one case and a flexion elbow in one patient. The Standard articular radiographs were normal in ten cases. The treatment associated essentially non-steroidal anti-inflammatory and/or corticosteroids and/or methotrexate. Concerning the evolving profile, the monocyclic form was present in 25% of the cases, the intermittent form in 40% and the chronic articular form in 35% of our patients. The adult onset Still's disease is rare and heterogeneous. The articular disturbances are frequent and have various outcomes.

  5. Childhood adversities and adult-onset asthma: a cohort study

    PubMed Central

    Korkeila, Jyrki; Lietzen, Raija; Sillanmäki, Lauri H; Rautava, Päivi; Korkeila, Katariina; Kivimäki, Mika; Koskenvuo, Markku; Vahtera, Jussi

    2012-01-01

    Objectives Childhood adversities may be important determinants of later illnesses and poor health behaviour. However, large-scale prospective studies on the associations between childhood adversities and the onset of asthma in adulthood are lacking. Design Prospective cohort study with 7-year follow-up. Setting Nationally representative study. Data were collected from the Health and Social Support (HeSSup) survey and national registers. Participants The participants represent the Finnish population from the following age groups: 20–24, 30–34, 40–44, and 50–54 years at baseline in 1998 (24 057 survey participants formed the final cohort of this study). The occurrence of childhood adversities was assessed at baseline with a six-item survey scale. The analyses were adjusted for sociodemographic characteristics, behavioural health risks and common mental disorders. Primary and secondary outcomes The survey data were linked to data from national health registers on incident asthma during a 7-year follow-up to define new-onset asthma cases with verified diagnoses. Results A total of 12 126 (59%) participants reported that they encountered a childhood adversity. Of them 3677 (18% of all) endured three to six adversities. During a follow-up of 7 years, 593 (2.9%) participants were diagnosed with incident asthma. Those who reported three or more childhood adversities had a 1.6-fold (95% CI 1.31 to 2.01) greater risk of asthma compared to those without childhood adversities. This hazard attenuated but remained statistically significant after adjustment for conventional risk factors (HR 1.33; 95% CI 1.06 to 1.67). Conclusions Adults who report having encountered adversities in childhood may have an increased risk of developing asthma. PMID:23069774

  6. Adult-onset Still's disease and cardiac tamponade: a rare association.

    PubMed

    Carrilho-Ferreira, Pedro; Silva, Doroteia; de Jesus Silva, Maria; André, Rui; Varela, Manuel Gato; Diogo, António Nunes

    2015-06-01

    Adult-onset Still's disease is a rare disorder with potentially severe clinical features, including cardiac involvement. This systemic inflammatory disease of unknown origin should be considered in the differential diagnosis of pericarditis, with or without pericardial effusion. Cardiac tamponade is a very rare sequela that requires an invasive approach, such as percutaneous or surgical pericardial drainage, in addition to the usual conservative therapy. The authors describe a case of adult-onset Still's disease rendered more difficult by pericarditis and cardiac tamponade, and they briefly review the literature on this entity.

  7. Adult-Onset Still's Disease and Cardiac Tamponade: A Rare Association

    PubMed Central

    Silva, Doroteia; de Jesus Silva, Maria; André, Rui; Varela, Manuel Gato; Diogo, António Nunes

    2015-01-01

    Adult-onset Still's disease is a rare disorder with potentially severe clinical features, including cardiac involvement. This systemic inflammatory disease of unknown origin should be considered in the differential diagnosis of pericarditis, with or without pericardial effusion. Cardiac tamponade is a very rare sequela that requires an invasive approach, such as percutaneous or surgical pericardial drainage, in addition to the usual conservative therapy. The authors describe a case of adult-onset Still's disease rendered more difficult by pericarditis and cardiac tamponade, and they briefly review the literature on this entity. PMID:26175648

  8. Periocular xanthogranulomas associated with severe adult-onset asthma.

    PubMed Central

    Jakobiec, F A; Mills, M D; Hidayat, A A; Dallow, R L; Townsend, D J; Brinker, E A; Charles, N C

    1993-01-01

    This article describes six patients who presented, usually bilaterally, with yellow-orange, elevated, indurated, and nonulcerated xanthomatous eyelid lesions, typically extending into the anterior orbital fat, and sometimes involving the extraocular muscles and the lacrimal gland. Because the eyelids remained intact and because the process did not reach the deep orbital and perioptic connective tissues, visual acuity was well preserved. There is cosmetic morbidity and occasionally motility restriction with advancing involvement of the extraocular muscles. All patients had variably severe adult-onset asthma that required treatment with systemic prednisone and inhalants. No evidence of Erdheim-Chester disease was found in any patient, but the appearance in one patient, after 25 years of follow-up, of a separate subcutaneous necrobiotic xanthogranulomatous lesion in the mandibular region with an associated paraproteinemia, suggests that at least some of our cases might be a mild form of necrobiotic xanthogranuloma. For this reason, we would suggest repeated periodic serum protein immunoelectrophoretic studies as well as evaluation for lymphoma. Therapy probably should consist of low doses of periorbital radiotherapy coupled with high doses of corticosteroids. Should this not be successful, then systemic administration of corticosteroids with chemotherapeutic agents might be efficacious, as in necrobiotic xanthogranuloma. Images FIGURE 1 FIGURE 2 FIGURE 3 FIGURE 4 FIGURE 5 FIGURE 6 FIGURE 7 FIGURE 8 FIGURE 9 FIGURE 10 FIGURE 11 FIGURE 12 FIGURE 13 FIGURE 14 FIGURE 15 FIGURE 16 FIGURE 17 FIGURE 18 FIGURE 19 PMID:8140711

  9. Adult onset Still’s disease with dermatopathic lymphadenopathy

    PubMed Central

    Qureshi, Ahmad Z.; AlSheef, Mohammad; Qureshi, Waqas T.; Amjad, Waseem

    2016-01-01

    Adult onset Still’s disease (AOSD) is a chronic inflammatory disorder involving multiple systems. The symptoms mimic those of lymphomas, therefore, the diagnosis of lymphoma needs to be excluded prior to establishing the diagnosis of AOSD. Another similar condition is dermatopathic lymphadenopathy (DL). In DL, the histopathological appearance of lymph node biopsy may also mimic AOSD. The DL is associated with several systemic pathologies, such as malignant lymphomas, and rarely AOSD. We present a case of a 43-year-old male presented with 3 months history of fatigue, fever, and lymphadenopathy. Initial work-up satisfactorily met the criteria for diagnosis of AOSD. But considering the well-known association of DL with hematological malignancies, detailed pathological studies were considered, including tumor markers to rule out the possibility of malignancy. The patient was started on steroids and showed remarkable recovery within 2 weeks. Evaluation of malignant lymphomas in a patient with DL is important, in order to diagnose AOSD and rule out hematological malignancy. PMID:27761568

  10. Adult-onset Still's disease with atypical cutaneous manifestations

    PubMed Central

    Narváez Garcia, Francisco Javier; Pascual, María; López de Recalde, Mercè; Juarez, Pablo; Morales-Ivorra, Isabel; Notario, Jaime; Jucglà, Anna; Nolla, Joan M.

    2017-01-01

    Abstract The diagnosis of adult-onset Still's disease (AOSD) can be very difficult. There are no specific tests available, and diagnosis is usually based on a symptom complex and the well-described typical evanescent rash seen in the majority of patients. However, in recent years, other atypical cutaneous manifestations of AOSD have been reported. These atypical skin eruptions often present in addition to the typical evanescent rash but may also be the only skin manifestation, resulting in delayed diagnosis because of under-recognition. In this study, we present 3 new cases of AOSD with atypical cutaneous manifestations diagnosed during a 30-year period in our department and review 78 additional cases previously reported (PubMed 1990–2016). These 81 patients form the basis of the present analysis. The overall prevalence of atypical cutaneous manifestations in our AOSD population was 14%. These manifestations may appear at any time over the course of the disease, and usually occur in patients who have persistent and severe disease, with a considerable frequency of clinical complications (23%), including serositis, myopericarditis, lung involvement, abdominal pain, neurologic involvement, and reactive hemophagocytic syndrome. The most representative and frequent lesion among the nonclassical skin rashes is the development of persistent pruritic papules and/or plaques. Interestingly, these lesions show a distinctive histological pattern. Other, less frequently observed lesions include urticaria and urticaria-like eruptions, generalized or widespread non-pruritic persistent erythema, vesiculopustular eruptions, a widespread peau d’orange appearance of the skin, and edema of the eyelids mimicking dermatomyositis without any accompanying skin lesion. The great majority of these patients required medium or high doses of glucocorticoids (including intravenous methylprednisolone pulse therapy in some cases) and, in nearly 40%, a more potent or maintenance immunotherapy

  11. [Adult-onset Still's disease with liver failure requiring liver transplantation].

    PubMed

    Terán, Alvaro; Casafont, Fernando; Fábrega, Emilio; Martínez-Taboada, Víctor Manuel; Rodríguez-Valverde, Vicente; Pons-Romero, Fernando

    2009-12-01

    We present the case of a 23-year-old man with fever of unknown origin, who developed acute liver failure 2 months after symptom onset, requiring an urgent liver transplantation. The diagnosis of adult-onset Still's disease was established after the reappearance of symptoms after transplantation, and high doses of corticosteroids were used to control disease activity. Subsequently, given the impossibility of tapering the steroid dose, interleukin-1 receptor blocking treatment was started with satisfactory outcome. We also review the published literature.

  12. Lifetime Increased Risk of Adult Onset Atopic Dermatitis in Adolescent and Adult Patients with Food Allergy

    PubMed Central

    Yu, Hsu-Sheng; Tu, Hung-Pin; Hong, Chien-Hui; Lee, Chih-Hung

    2016-01-01

    Food allergy can result in life-threatening anaphylaxis. Atopic dermatitis (AD) causes intense itching and impaired quality of life. Previous studies have shown that patients with classical early-onset AD tend to develop food allergy and that 10% of adults with food allergies have concomitant AD. However, it is not known whether late-onset food allergy leads to adult-onset AD, a recently recognized disease entity. Using an initial cohort of one-million subjects, this study retrospectively followed-up 2851 patients with food allergy (age > 12 years) for 14 years and compared them with 11,404 matched controls. While 2.8% (81) of the 2851 food allergy patients developed AD, only 2.0% (227) of the 11,404 controls developed AD. Multivariate regression analysis showed that food allergy patients were more likely to develop AD (adjusted hazard ratio = 2.49, p < 0.0001). Controls had a 1.99% risk of developing AD, while food allergy patients had a significantly higher risk (7.18% and 3.46% for patients with ≥3 and <3 food allergy claims, respectively) of developing adult-onset AD. This is the first study to describe the chronological and dose-dependent associations between food allergy in adolescence and the development of adult-onset AD. PMID:28035995

  13. Adult onset Hallervorden-Spatz disease with psychotic symptoms.

    PubMed

    del Valle-López, Pilar; Pérez-García, Rosa; Sanguino-Andrés, Rosa; González-Pablos, Emilio

    2011-01-01

    Hallervorden-Spatz disease is a rare neurological disorder characterized by pyramidal and extrapyramidal manifestations, dysarthria and dementia. Its onset is usually in childhood and most patients have a fatal outcome in few years. A high percentage of cases are hereditary with a recessive autosomal pattern. In the majority of the patients reported, a mutation of the gene that encodes the pantothenate kinase (PANK2) located in the 20p13-p12.3 chromosome that causes iron storage in the basal ganglia of the brain has been found. Its diagnosis is based on clinical symptoms as well as specific MRI imaging findings. The most common psychiatric features are cognitive impairment as well as depressive symptoms. There are few documented cases with psychotic disorders. We present the case of a patient with late onset Hallervorden-Spatz disease and psychotic symptoms that preceded the development of neurological manifestations. The pathophysiology and the treatment of psychotic symptomatology are presented and discussed. Key words: Psicosis, Hallervorden-Spatz, late onset, Basal ganglia.

  14. Adult-onset Still's disease revealed by perimyocarditis and a concomitant reactivation of an EBV infection

    PubMed Central

    Meckenstock, Roderich; Therby, Audrey; Gibault-Genty, Geraldine; Khau, David; Monnier, Sebastien; Greder-Belan, Alix

    2012-01-01

    We describe a 17-year-old patient presenting perimyocarditis as the initial manifestation of the adult-onset Still's disease. Corticotherapy was rapidly successful but induced major acute hepatitis in relation with Epstein-Barr virus reactivation. After 1 year, even if the global outcome is favourable, a slightly lowered ejection fraction still persists. Former case reports and differential diagnosis with reactive haemophagocytic syndrome would be discussed. PMID:23166163

  15. Guinea worm cause of adult onset asthmatic attack, a radiological diagnosis.

    PubMed

    Marchie, T T

    1999-01-01

    A case report of a fifty years old Hausa male from Sokoto town, Nigeria an endemic region of guinea worm infestation, who presented with sudden adult onset of asthmatic attack and was evaluated radiologically and the diagnosis of acute obstructive airway disease was confirmed. It was noted, that there were associated calcified chain of guinea worms in the lung parenchyma. A rare association of acute asthmatic attack. Patient responded there-after to an anti-asthmatic regime of management.

  16. Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis.

    PubMed

    Santín, Sheila; García-Maset, Rafael; Ruíz, Patricia; Giménez, Isabel; Zamora, Isabel; Peña, Antonia; Madrid, Alvaro; Camacho, Juan A; Fraga, Gloria; Sánchez-Moreno, Ana; Cobo, Maria Angeles; Bernis, Carmen; Ortiz, Alberto; de Pablos, Augusto Luque; Pintos, Guillem; Justa, Maria Luisa; Hidalgo-Barquero, Emilia; Fernández-Llama, Patricia; Ballarín, José; Ars, Elisabet; Torra, Roser

    2009-12-01

    Mutations in the NPHS1 gene cause congenital nephrotic syndrome of the Finnish type presenting before the first 3 months of life. Recently, NPHS1 mutations have also been identified in childhood-onset steroid-resistant nephrotic syndrome and milder courses of disease, but their role in adults with focal segmental glomerulosclerosis remains unknown. Here we developed an in silico scoring matrix to evaluate the pathogenicity of amino-acid substitutions using the biophysical and biochemical difference between wild-type and mutant amino acid, the evolutionary conservation of the amino-acid residue in orthologs, and defined domains, with the addition of contextual information. Mutation analysis was performed in 97 patients from 89 unrelated families, of which 52 presented with steroid-resistant nephrotic syndrome after 18 years of age. Compound heterozygous or homozygous NPHS1 mutations were identified in five familial and seven sporadic cases, including one patient 27 years old at onset of the disease. Substitutions were classified as 'severe' or 'mild' using this in silico approach. Our results suggest an earlier onset of the disease in patients with two 'severe' mutations compared to patients with at least one 'mild' mutation. The finding of mutations in a patient with adult-onset focal segmental glomerulosclerosis indicates that NPHS1 analysis could be considered in patients with later onset of the disease.

  17. Adult Onset Still's Disease: A Review on Diagnostic Workup and Treatment Options

    PubMed Central

    Gopalarathinam, Rajesh; Orlowsky, Eric; Kesavalu, Ramesh; Yelaminchili, Sreeteja

    2016-01-01

    Adult onset Still's disease (AOSD) is a rare systemic inflammatory disease of unknown etiology and pathogenesis that presents in 5 to 10% of patients as fever of unknown origin (FUO) accompanied by systemic manifestations. We report an interesting case of a 33-year-old African-American male who presented with one-month duration of FUO along with skin rash, sore throat, and arthralgia. After extensive workup, potential differential diagnoses were ruled out and the patient was diagnosed with AOSD based on the Yamaguchi criteria. The case history, incidence, pathogenesis, clinical manifestations, differential diagnoses, diagnostic workup, treatment modalities, and prognosis of AOSD are discussed in this case report. PMID:27042373

  18. Adult Onset Vitiligo: Multivariate Analysis Suggests the Need for a Thyroid Screening

    PubMed Central

    Lazzeri, L.; Cammi, A.; Dragoni, F.

    2016-01-01

    Background. There are limited epidemiological studies evaluating the effect of age at onset on disease features in vitiligo. Objectives. To identify factors associated with adult onset vitiligo in comparison with childhood onset vitiligo. Patients and Methods. We retrospectively collected medical records of 191 patients. Such records included clinical examination, personal and familial medical history, laboratory evaluations, concomitant vitiligo treatment and drug assumption. Results. 123 patients with a disease onset after the age of 40 (adult onset vitiligo) were compared with 68 patients who developed vitiligo before the age of 12 (childhood onset vitiligo). Multivariate analysis revealed that personal history of thyroid diseases (P = 0.04; OR 0.4), stress at onset (P = 0.002; OR = 0.34), personal history of autoimmune thyroid disease (ATD) (P = 0.003; OR = 0.23), and thyroid nodules (P = 0.001; OR 0.90) were independently associated with adult onset vitiligo, whereas family history of dermatological diseases (P = 0.003; OR = 2.87) and Koebner phenomenon (P < 0.001; OR = 4.73) with childhood onset vitiligo. Moreover, in the adult onset group, concomitant thyroid disease preceded vitiligo in a statistically significant number of patients (P = 0.014). Conclusions. Childhood onset and adult onset vitiligo have different clinical features. In particular, ATD and thyroid nodules were significantly associated with adult onset vitiligo, suggesting that a thyroid screening should be recommended in this group of patients. PMID:27747240

  19. Adult Onset Vitiligo: Multivariate Analysis Suggests the Need for a Thyroid Screening.

    PubMed

    Lazzeri, L; Colucci, R; Cammi, A; Dragoni, F; Moretti, S

    2016-01-01

    Background. There are limited epidemiological studies evaluating the effect of age at onset on disease features in vitiligo. Objectives. To identify factors associated with adult onset vitiligo in comparison with childhood onset vitiligo. Patients and Methods. We retrospectively collected medical records of 191 patients. Such records included clinical examination, personal and familial medical history, laboratory evaluations, concomitant vitiligo treatment and drug assumption. Results. 123 patients with a disease onset after the age of 40 (adult onset vitiligo) were compared with 68 patients who developed vitiligo before the age of 12 (childhood onset vitiligo). Multivariate analysis revealed that personal history of thyroid diseases (P = 0.04; OR 0.4), stress at onset (P = 0.002; OR = 0.34), personal history of autoimmune thyroid disease (ATD) (P = 0.003; OR = 0.23), and thyroid nodules (P = 0.001; OR 0.90) were independently associated with adult onset vitiligo, whereas family history of dermatological diseases (P = 0.003; OR = 2.87) and Koebner phenomenon (P < 0.001; OR = 4.73) with childhood onset vitiligo. Moreover, in the adult onset group, concomitant thyroid disease preceded vitiligo in a statistically significant number of patients (P = 0.014). Conclusions. Childhood onset and adult onset vitiligo have different clinical features. In particular, ATD and thyroid nodules were significantly associated with adult onset vitiligo, suggesting that a thyroid screening should be recommended in this group of patients.

  20. Adult-onset Still's disease as a mask of Hodgkin lymphoma

    PubMed Central

    Pawlak-Buś, Katarzyna; Leszczyński, Piotr

    2015-01-01

    Adult-onset Still's disease is a rare disorder, which creates difficulties in making a proper diagnosis. Ambiguous symptoms and results of auxiliary tests, lack of unequivocal diagnostic tests and the need to exclude other causes of the disease are major problems in clinical practice. A case of a 22-year-old woman with dominated recurrent fever, significantly elevated inflammation markers and arthritis is presented. Based on clinical signs after exclusion of infection, hematological and other reasons, the patient was diagnosed with adult-onset Still's disease. Standard treatment, with high doses of glucocorticoids and a disease-modifying drug, was applied, without the anticipated effects. The diagnostic tests were conducted again due to the lack of clinical improvement, increase of inflammatory markers and unusual response to treatment. A new symptom of significance, i.e. mediastinal lymphadenopathy, was found. After the histopathological examination of lymph nodes, Hodgkin's disease was diagnosed and targeted therapy for hematological malignancy was applied. PMID:27407236

  1. Adult-onset Still's disease as a mask of Hodgkin lymphoma.

    PubMed

    Dudziec, Ewa; Pawlak-Buś, Katarzyna; Leszczyński, Piotr

    2015-01-01

    Adult-onset Still's disease is a rare disorder, which creates difficulties in making a proper diagnosis. Ambiguous symptoms and results of auxiliary tests, lack of unequivocal diagnostic tests and the need to exclude other causes of the disease are major problems in clinical practice. A case of a 22-year-old woman with dominated recurrent fever, significantly elevated inflammation markers and arthritis is presented. Based on clinical signs after exclusion of infection, hematological and other reasons, the patient was diagnosed with adult-onset Still's disease. Standard treatment, with high doses of glucocorticoids and a disease-modifying drug, was applied, without the anticipated effects. The diagnostic tests were conducted again due to the lack of clinical improvement, increase of inflammatory markers and unusual response to treatment. A new symptom of significance, i.e. mediastinal lymphadenopathy, was found. After the histopathological examination of lymph nodes, Hodgkin's disease was diagnosed and targeted therapy for hematological malignancy was applied.

  2. Adult onset primary focal dystonia of the foot: an orthopaedic intervention.

    PubMed

    Logan, Loretta; Resseque, Barbara; Dontamsetti, Monica Sakshi

    2016-03-30

    A 54-year-old woman presented to a foot centre with a chief symptom of cramping in her toes, which, she believed, was of a secondary cause originating from a bunion. She was treated conservatively; however, she returned a month later as the symptoms had progressed to painful cramping of toes, toe-curling and instability while walking, due to involuntary movement of her toes. It was believed that the patient presented with a rare case of primary adult onset focal foot dystonia. This case report explains dystonia further in detail and delves into the different treatment and management options available today, including the unique orthopaedic intervention provided for this patient.

  3. Adult-Onset Esophageal Crohn’s Disease

    PubMed Central

    Kasarala, George; Durrett, Sam

    2016-01-01

    Crohn’s disease (CD) is an idiopathic inflammatory bowel disease that can involve any part of the gastrointestinal tract. Esophageal involvement is rarely seen in adults, especially at the initial diagnosis of CD. Esophageal symptoms as primary manifestations of the disease are extremely rare. We report a case of a CD with esophageal involvement at the time of her initial diagnosis of CD. PMID:27761477

  4. Warming up Improves Speech Production in Patients with Adult Onset Myotonic Dystrophy

    ERIC Educational Resources Information Center

    de Swart, B.J.M.; van Engelen, B.G.M.; Maassen, B.A.M.

    2007-01-01

    This investigation was conducted to study whether warming up decreases myotonia (muscle stiffness) during speech production or causes adverse effects due to fatigue or exhaustion caused by intensive speech activity in patients with adult onset myotonic dystrophy. Thirty patients with adult onset myotonic dystrophy (MD) and ten healthy controls…

  5. Is adult ADHD a childhood-onset neurodevelopmental disorder? Evidence from a 4-decade longitudinal cohort study

    PubMed Central

    Moffitt, Terrie E.; Houts, Renate; Asherson, Philip; Belsky, Daniel W; Corcoran, David L; Hammerle, Maggie; Harrington, Honalee; Hogan, Sean; Meier, Madeline; Polanczyk, Guilherme V.; Poulton, Richie; Ramrakha, Sandhya; Sugden, Karen; Williams, Benjamin; Rohde, Luis Augusto; Caspi, Avshalom

    2015-01-01

    Objective Despite a prevailing assumption that adult ADHD is a childhood-onset neurodevelopmental disorder, no prospective-longitudinal study has described the childhoods of the adult-ADHD population. We report follow-back analyses of ADHD cases diagnosed in adulthood, alongside follow-forward analyses of ADHD cases diagnosed in childhood, in one cohort. Method Participants belonged to a representative birth cohort of 1,037 individuals born in Dunedin, New Zealand in 1972-73 and followed to age 38, with 95% retention. Symptoms of ADHD, associated clinical features, comorbid disorders, neuropsychological deficits, GWAS-derived polygenic risk, and life impairment indicators were assessed. Data sources were participants, parents, teachers, informants, neuropsychological testing, and administrative records. Adult ADHD diagnoses used DSM5 criteria, apart from onset-age and cross-setting corroboration, which were study outcomes. Results As expected, the childhood-ADHD group showed 6% prevalence, male excess, childhood comorbid disorders, neurocognitive deficits, polygenic risk, and, despite having outgrown their ADHD diagnosis, residual adult life impairment. As expected, the adult-ADHD group showed 3% prevalence, gender balance, adult substance dependence, adult life impairment, and treatment contact. Unexpectedly, the childhood-ADHD and adult-ADHD groups comprised virtually non-overlapping sets; 90% of adult-ADHD cases lacked a history of childhood ADHD. Also unexpectedly, the adult-ADHD group did not show tested neuropsychological deficits in childhood or adulthood, nor did they show polygenic risk for childhood ADHD. Conclusion Findings raise the possibility that adults presenting with the ADHD symptom picture may not have a childhood-onset neurodevelopmental disorder. If this finding is replicated, then the disorder's place in the classification system must be reconsidered, and research must investigate the etiology of adult ADHD. PMID:25998281

  6. Adult-onset hypophosphatemic osteomalacia associated with Sjogren syndrome

    PubMed Central

    Shen, Guohua; Zhang, Yuwei; Hu, Shuang; Liu, Bin; Kuang, Anren

    2017-01-01

    Abstract Rationale: Hypophosphatemic osteomalacia (HO) is a metabolic bone disease, exhibiting different etiologies such as genetic mutation, tumor induction, dysimmunity, or renal disease. Sjogren's syndrome (SS) is a connective tissue disorder commonly involving exocrine glands; however kidney involvement is also encountered, leading to abnormal phosphorus metabolism, even HO. Patient concerns: A 47-year-old female patient presented progressively worsening pain in the chest wall, back and bilateral lower extremities as well as muscle weakness was referred to our department. Diagnoses, interventions and outcomes: Due to the laboratory test results, radiographic findings and pathologic results, she was diagnosed with adult-onset HO associated with SS. She was then treated with alkalinization, steroids, neutral phosphate, calcium supplements together with activated vitamin D. So far, she recovered uneventfully with relieved pain and increased serum phosphorus level. Lessons: HO may be secondary to renal tubular acidosis of SS patients, and it might be a diagnostic challenge when the kidney involvement in SS is latent and precede the typical sicca symptoms. PMID:28353596

  7. Adult-onset opsoclonus-myoclonus syndrome due to West Nile Virus treated with intravenous immunoglobulin.

    PubMed

    Hébert, Julien; Armstrong, David; Daneman, Nick; Jain, Jennifer Deborah; Perry, James

    2017-02-01

    A 63-year-old female with no significant past medical history was presented with a 5-day history of progressive opsoclonus-myoclonus, headaches, and fevers. Her workup was significant only for positive West-Nile Virus serum serologies. She received a 2-day course of intravenous immunoglobulin (IvIG). At an 8-week follow up, she had a complete neurological remission. Adult-onset opsoclonus-myoclonus syndrome is a rare condition for which paraneoplastic and infectious causes have been attributed. To our knowledge, this is the first case reported of opsoclonus-myoclonus secondary to West-Nile Virus treated with intravenous immunoglobulin monotherapy.

  8. Adult-onset Still disease with peculiar persistent plaques and papules.

    PubMed

    Yoshifuku, A; Kawai, K; Kanekura, T

    2014-06-01

    Adult-onset Still disease (AOSD) is a systemic inflammatory disorder characterized clinically by high spiking fever, polyarthralgia/arthritis, a salmon-pink evanescent rash, predominantly neutrophilic leucocytosis, lymphadenopathy, liver dysfunction, and splenomegaly. Recently, a nonclassic, nonevanescent skin rash has been reported. We report a 27-year-old woman with AOSD showing persistent pruritic papular lesions. Histologically, dyskeratotic keratinocytes were seen in the upper epidermis. We describe this case in detail and review the previous literature. Nonclassic pruritic eruptions with characteristic dyskeratotic keratinocytes might provide an important clue for the diagnosis of AOSD.

  9. Late-onset alopecia areata: descriptive analysis of 30 cases*

    PubMed Central

    Lazzarini, Rosana; Oliari, Camila Bilac; Erthal, Ana Luisa Nasser

    2016-01-01

    Alopecia areata is an autoimmune disease characterized by non-scaring hair loss. The onset in over 50-year-old patients is rare and has barely been studied. Cases of this disease have been retrospectively analyzed – according to clinical forms, extension, and associated diseases – to assess alopecia areata characteristics in a group of patients whose disease onset was after the age of 50. 30 patients were studied; a few of them presented with autoimmune-related diseases or family history. The disease onset after the age of 50 seems to have different characteristics from those found in young people. PMID:28099618

  10. Pediatric-Onset and Adult-Onset Separation Anxiety Disorder Across Countries in the World Mental Health Survey

    PubMed Central

    Silove, Derrick; Alonso, Jordi; Bromet, Evelyn; Gruber, Mike; Sampson, Nancy; Scott, Kate; Andrade, Laura; Benjet, Corina; de Almeida, Jose Miguel Caldas; De Girolamo, Giovanni; de Jonge, Peter; Demyttenaere, Koen; Fiestas, Fabian; Florescu, Silvia; Gureje, Oye; He, Yanling; Karam, Elie; Lepine, Jean-Pierre; Murphy, Sam; Villa-Posada, Jose; Zarkov, Zahari; Kessler, Ronald C.

    2016-01-01

    Objective The age-at-onset criterion for separation anxiety disorder was removed in DSM-5, making it timely to examine the epidemiology of separation anxiety disorder as a disorder with onsets spanning the life course, using cross-country data. Method The sample included 38,993 adults in 18 countries in the World Health Organization (WHO) World Mental Health Surveys. The WHO Composite International Diagnostic Interview was used to assess a range of DSM-IV disorders that included an expanded definition of separation anxiety disorder allowing onsets in adulthood. Analyses focused on prevalence, age at onset, comorbidity, predictors of onset and persistence, and separation anxiety-related role impairment. Results Lifetime separation anxiety disorder prevalence averaged 4.8% across countries (interquartile range [25th–75th percentiles]=1.4%–6.4%), with 43.1% of lifetime onsets occurring after age 18. Significant time-lagged associations were found between earlier separation anxiety disorder and subsequent onset of internalizing and externalizing DSM-IV disorders and conversely between these disorders and subsequent onset of separation anxiety disorder. Other consistently significant predictors of lifetime separation anxiety disorder included female gender, retrospectively reported childhood adversities, and lifetime traumatic events. These predictors were largely comparable for separation anxiety disorder onsets in childhood, adolescence, and adulthood and across country income groups. Twelve-month separation anxiety disorder prevalence was considerably lower than lifetime prevalence (1.0% of the total sample; interquartile range=0.2%–1.2%). Severe separation anxiety-related 12-month role impairment was significantly more common in the presence (42.4%) than absence (18.3%) of 12-month comorbidity. Conclusions Separation anxiety disorder is a common and highly comorbid disorder that can have onset across the lifespan. Childhood adversity and lifetime trauma are

  11. Clinical Value of NPHS2 Analysis in Early- and Adult-Onset Steroid-Resistant Nephrotic Syndrome

    PubMed Central

    Santín, Sheila; Tazón-Vega, Bárbara; Silva, Irene; Cobo, María Ángeles; Giménez, Isabel; Ruíz, Patricia; García-Maset, Rafael; Ballarín, José

    2011-01-01

    Summary Background and objectives To date, very few cases with adult-onset focal segmental glomerulosclerosis (FSGS) carrying NPHS2 variants have been described, all of them being compound heterozygous for the p.R229Q variant and one pathogenic mutation. Design, setting, participants, & measurements Mutation analysis was performed in 148 unrelated Spanish patients, of whom 50 presented with FSGS after 18 years of age. Pathogenicity of amino acid substitutions was evaluated through an in silico scoring system. Haplotype analysis was carried out using NPHS2 single nucleotide polymorphism and microsatellite markers. Results Compound heterozygous or homozygous NPHS2 pathogenic mutations were identified in seven childhood-onset steroid-resistant nephrotic syndrome (SRNS) cases. Six additional cases with late childhood- and adult-onset SRNS were compound heterozygotes for p.R229Q and one pathogenic mutation, mostly p.A284V. p.R229Q was more frequent among SRNS cases relative to controls (odds ratio = 2.65; P = 0.02). Significantly higher age at onset of the disease and slower progression to ESRD were found in patients with one pathogenic mutation plus the p.R229Q variant in respect to patients with two NPHS2 pathogenic mutations. Conclusions NPHS2 analysis has a clinical value in both childhood- and adult-onset SRNS patients. For adult-onset patients, the first step should be screening for p.R229Q and, if positive, for p.A284V. These alleles are present in conserved haplotypes, suggesting a common origin for these substitutions. Patients carrying this specific NPHS2 allele combination did not respond to corticoids or immunosuppressors and showed FSGS, average 8-year progression to ESRD, and low risk for recurrence of FSGS after kidney transplant. PMID:20947785

  12. Adult onset leukodystrophy with neuroaxonal spheroids and demyelinating plaque-like lesions.

    PubMed

    Martinez-Saez, Elena; Shah, Sachit; Costa, Carme; Fleminger, Simon; Connor, Stephen; Bodi, Istvan

    2012-06-01

    Adult onset leukodystrophy with neuroaxonal spheroids is an uncommon cause of dementia. Both hereditary (autosomal dominant) and sporadic cases have been described. A 41-year-old African woman presented with inappropriate behavior and personality change consistent with frontal lobe dysfunction. MRI demonstrated diffuse frontoparietal white matter signal abnormality and volume loss, as well as focal enhancing white matter lesions, while CT scan showed white matter calcifications. She had been gradually deteriorating over the last 5 years, diagnosed as having progressive demyelinating illness. She died of recurrent chest infections. There was no familial history. The brain showed prominent symmetrical white matter changes with greyish discolorization mainly affecting the frontal and parietal lobes, with less involvement of the temporal lobe and only mildly affecting the occipital white matter. Histology revealed deep white matter atrophy with many neuroaxonal spheroids labelled by neurofilament and β-amyloid precursor protein. In addition, scattered inactive demyelinating plaque-like lesions were found in the periventricular areas, brainstem and the cervical spinal cord. This case had typical features of an adult onset leukodystrophy with neuroaxonal spheroids. However, we also demonstrated demyelinating plaque-like lesions, which has not been previously described. The possibility of a demyelinating origin contributing to the changes may be considered in the pathogenesis of this condition.

  13. Genetics Home Reference: adult-onset leukoencephalopathy with axonal spheroids and pigmented glia

    MedlinePlus

    ... it causes a severe decline in thinking and reasoning abilities (dementia). Over time, motor skills are affected, ... Schmahmann JD. Adult onset leukodystrophy with neuroaxonal spheroids: clinical, neuroimaging and neuropathologic observations. Brain Pathol. 2009 Jan; ...

  14. Hereditary leukoencephalopathy with axonal spheroids: a spectrum of phenotypes from CNS vasculitis to parkinsonism in an adult onset leukodystrophy series

    PubMed Central

    Jaunmuktane, Zane; Sheerin, Una-Marie; Phadke, Rahul; Brandner, Sebastian; Milonas, Ionnis; Dean, Andrew; Bajaj, Nin; McNicholas, Nuala; Costello, Daniel; Cronin, Simon; McGuigan, Chris; Rossor, Martin; Fox, Nick; Murphy, Elaine; Chataway, Jeremy; Houlden, Henry

    2016-01-01

    Background Hereditary diffuse leukoencephalopathy with neuroaxonal spheroids (HDLS) is a hereditary, adult onset leukodystrophy which is characterised by the presence of axonal loss, axonal spheroids and variably present pigmented macrophages on pathological examination. It most frequently presents in adulthood with dementia and personality change. HDLS has recently been found to be caused by mutations in the colony stimulating factor-1 receptor (CSF1R) gene. Methods In this study, we sequenced the CSF1R gene in a cohort of 48 patients from the UK, Greece and Ireland with adult onset leukodystrophy of unknown cause. Results Five pathogenic mutations were found, including three novel mutations. The presentations ranged from suspected central nervous system (CNS) vasculitis to extrapyramidal to cognitive phenotypes. The case histories and imaging are presented here, in addition to neuropathological findings from two cases with novel mutations. Conclusion We estimate that CSF1R mutations account for 10% of idiopathic adult onset leukodystrophies and that genetic testing for CSF1R mutations is essential in adult patients presenting with undefined CNS vasculitis or a leukodystrophy with prominent neuropsychiatric signs or dementia. PMID:25935893

  15. Autoimmune lymphoproliferative syndrome (ALPS): a case with congenital onset.

    PubMed

    Kahwash, Samir B; Fung, Bonita; Savelli, Stephanie; Bleesing, Jack J; Qualman, Stephen J

    2007-01-01

    We describe a case of autoimmune lymphoproliferative syndrome (ALPS), which is very unusual with regard to a clinical onset soon after birth, and a clinical picture dominated by splenomegaly, jaundice, and consumptive peripheral blood cytopenias, with minimal lymphadenopathy. Our documented close follow up demonstrated initial involvement of the spleen, followed by involvement of the bone marrow and the peripheral blood. The patient underwent bone marrow transplant and is alive and well 20 months after diagnosis.

  16. Early onset marfan syndrome: Atypical clinical presentation of two cases

    PubMed Central

    Ozyurt, A; Baykan, A; Argun, M; Pamukcu, O; Halis, H; Korkut, S; Yuksel, Z; Gunes, T; Narin, N

    2015-01-01

    Early onset Marfan Syndrome (eoMFS) is a rare, severe form of Marfan Syndrome (MFS). The disease has a poor prognosis and most patients present with resistance to heart failure treatment during the newborn period. This report presents two cases of eoMFS with similar clinical features diagnosed in the newborn period and who died at an early age due to the complications related to the involvement of the cardiovascular system. PMID:26929908

  17. Sandhoff disease mimicking adult-onset bulbospinal neuronopathy.

    PubMed Central

    Thomas, P K; Young, E; King, R H

    1989-01-01

    A 32 year old male is described with an onset of upper limb postural tremor in adolescence followed by muscle cramps. Progressive proximal amyotrophy and weakness in the limbs developed late in the third decade. Examination disclosed, in addition, bilateral facial weakness and mild dysarthria. Enzyme studies revealed hexosaminidase A and B deficiency, indicating a diagnosis of Sandhoff disease. Intra-axonal membranocytoplasmic bodies were present in a rectal biopsy. The presentation, which resembled that of X-linked bulbospinal neuronopathy, widens the clinical spectrum for disorders related to G(M2) gangliosidosis. Images PMID:2795083

  18. [ADHD or childhood-onset schizophrenia? A case report].

    PubMed

    Lia, C; Cavaggioni, G

    2012-07-01

    In the last decades there was an increasing interest in early detection of prodromal symptoms in schizophrenia and, more specifically, in detecting subjects at high risk for psychosis. However, especially in case of childhood-onset schizophrenia (COS), sometimes it is possible to don't recognize its early symptoms and to ascribe the observed clinical picture to other diseases, with consequent delay in diagnosis and treatment of these patients. In this case report we want to underline the importance of an early detection of schizophrenia, with a focus on differential diagnosis between Attention Deficit/Hyperactivity Disorder and schizophrenia.

  19. Macrophage Activation Syndrome Associated with Adult-Onset Still's Disease Successfully Treated with Anakinra

    PubMed Central

    Kato, Hiroshi

    2016-01-01

    Macrophage activation syndrome (MAS) is a potentially fatal complication of Adult-Onset Still's disease (Still's disease). Whereas an increasing body of evidence supports interleukin-1 (IL-1) blockade as a promising treatment for Still's disease, whether it is therapeutic for MAS associated with Still's disease remains unclear. We report a 34-year-old Caucasian man with one-decade history of TNF-blockade-responsive seronegative arthritis who presented with abrupt onset of fever, serositis, bicytopenia, splenomegaly, hepatitis, and disseminated intravascular coagulation. Striking hyperferritinemia was noted without evidence of infection, malignancy, or hemophagocytosis on bone marrow biopsy. NK cells were undetectable in the peripheral blood, whereas soluble IL-2 receptor was elevated. His multiorgan disease resolved in association with methylprednisolone pulse therapy, Anakinra, and a tapering course of prednisone. This case reinforces the notion that Still's disease is inherently poised to manifest MAS as one of the clinical phenotypes by shedding light on the role of IL-1 underlying both Still's disease and related MAS. PMID:27818826

  20. Audiovisual Integration Delayed by Stimulus Onset Asynchrony Between Auditory and Visual Stimuli in Older Adults.

    PubMed

    Ren, Yanna; Yang, Weiping; Nakahashi, Kohei; Takahashi, Satoshi; Wu, Jinglong

    2017-02-01

    Although neuronal studies have shown that audiovisual integration is regulated by temporal factors, there is still little knowledge about the impact of temporal factors on audiovisual integration in older adults. To clarify how stimulus onset asynchrony (SOA) between auditory and visual stimuli modulates age-related audiovisual integration, 20 younger adults (21-24 years) and 20 older adults (61-80 years) were instructed to perform an auditory or visual stimuli discrimination experiment. The results showed that in younger adults, audiovisual integration was altered from an enhancement (AV, A ± 50 V) to a depression (A ± 150 V). In older adults, the alterative pattern was similar to that for younger adults with the expansion of SOA; however, older adults showed significantly delayed onset for the time-window-of-integration and peak latency in all conditions, which further demonstrated that audiovisual integration was delayed more severely with the expansion of SOA, especially in the peak latency for V-preceded-A conditions in older adults. Our study suggested that audiovisual facilitative integration occurs only within a certain SOA range (e.g., -50 to 50 ms) in both younger and older adults. Moreover, our results confirm that the response for older adults was slowed and provided empirical evidence that integration ability is much more sensitive to the temporal alignment of audiovisual stimuli in older adults.

  1. Mapping a gene for adult-onset primary open-angle glaucoma to chromosome 3q.

    PubMed Central

    Wirtz, M K; Samples, J R; Kramer, P L; Rust, K; Topinka, J R; Yount, J; Koler, R D; Acott, T S

    1997-01-01

    Glaucoma is the third-leading cause of blindness in the world, affecting >13.5 million people. Adult-onset primary open-angle glaucoma (POAG) is the most common form of glaucoma in the United States. We present a family in which adult-onset POAG is inherited as an autosomal dominant trait. Twelve affected family members were identified from 44 at-risk individuals. The disease-causing gene was mapped to chromosome 3q21-24, with analysis of recombinant haplotypes suggesting a total inclusion region of 11.1 cM between markers D3S3637 and D3S1744. This is the first report of mapping of an adult-onset POAG gene to chromosome 3q, gene symbol GLC1C. PMID:9012402

  2. A case-control study of dietary salt intake in pediatric-onset multiple sclerosis

    PubMed Central

    McDonald, Jamie; Graves, Jennifer; Waldman, Amy; Lotze, Timothy; Schreiner, Teri; Belman, Anita; Greenberg, Benjamin; Weinstock-Guttman, Bianca; Aaen, Gregory; Tillema, Jan-Mendelt; Hart, Janace; Lulu, Sabeen; Ness, Jayne; Harris, Yolanda; Rubin, Jennifer; Candee, Meghan; Krupp, Lauren B.; Gorman, Mark; Benson, Leslie; Rodriguez, Moses; Chitnis, Tanuja; Mar, Soe; Barcellos, Lisa F.; Laraia, Barbara; Rose, John; Roalstad, Shelly; Simmons, Timothy; Casper, T. Charles; Waubant, Emmanuelle

    2016-01-01

    Background High salt intake may be associated with pro-inflammatory changes in the immune response, and increased clinical and MRI activity in adults with relapsing-remitting multiple sclerosis. Objective We sought to determine if dietary salt intake is associated with pediatric-onset MS risk in a multicenter, case-control study. Methods Pediatric-onset CIS/MS cases within four years of onset and controls less than 22 years old recruited from 14 pediatric-MS centers were studied. Dietary sodium intake was assessed using the validated Block Kids Food Screener (NutritionQuest). Sodium intake, excess sodium, and sodium terciles were compared between cases and controls. Logistic regression models were adjusted for age, gender, ethnicity, body mass index, and socioeconomic status. Results Among 170 cases (mean age=15.2±3.5) and 331 controls (mean age=14.0±3.7), no significant difference in unadjusted mean sodium intake was found between cases (2044 mg/d) and controls (2030 mg/d, p=0.99). The proportion of subjects consuming excess sodium, based on the adequate intake for age and gender, was similar between cases and controls (65% versus 69%, p=0.34). There were no increased odds of higher sodium intake among cases as compared to controls (for each 100 mg/d increase in sodium, OR=1.00, 95% CI 0.98, 1.02; p=0.93, for excess sodium intake, OR=1.05, 95% CI 0.67, 1.64; p=0.84). Conclusions Our results show no strong association between dietary salt intake and pediatric-onset MS risk, suggesting that salt intake may not play a prominent role in susceptibility to MS in children. PMID:27063630

  3. The distinction between juvenile and adult-onset primary open-angle glaucoma

    SciTech Connect

    Wiggs, J.L.; Haines, J.L.; Damji, K.F.

    1996-01-01

    Because of the significant differences between the juvenile and adult forms of open-angle glaucoma, especially with regard to inheritance, prevalence, severity, and age of onset, we read with interest the recent publication by Morissette et al., describing a pedigree with a phenotype that overlaps the distinctive features of juvenile-onset open-angle glaucoma (JOAG) and adult-onset primary open-angle glaucoma (usually abbreviated as POAG or COAG). These authors conclude that a gene mapped to human chromosome 1q21-q31 (GLC1A) can be responsible for both juvenile and adult forms of open-angle glaucoma. The implications of such a result could be extremely important, in light of the high prevalence of the adult form of the disease. However, while the data presented in this report suggest that variable expressivity of the GLC1A gene may lead to a broader range of onset for this form of juvenile glaucoma, these data do not identify the GLC1A gene as an important cause of POAG. To prevent misleading interpretations of this and similar studies, we wish to clarify the distinction between the juvenile and adult forms of open-angle glaucoma. 8 refs.

  4. Adult Onset of Xanthelasmoid Mastocytosis: Report of a Rare Entity

    PubMed Central

    Nabavi, Nafiseh Sadat; Nejad, Masumeh Hosseini; Feli, Shahab; Bakhshoodeh, Behnoosh; Layegh, Pouran

    2016-01-01

    Xanthelasmoid or pseudoxanthomatous mastocytosis is an extremely rare variant of diffuse cutaneous mastocytosis. Herein, we describe an adult male with cutaneous mastocytosis showing multiple widespread yellowish ovoid papules like eruptive xanthoma. A 60-year-old male visited our outpatient clinic with a 1-year history of generalized yellowish, ovoid, and skin color papular eruption located on the trunk, groin, extremities, with the modest pruritus. Vital signs were stable, and Darier's sign was negative. No other subjective and objective signs were detected during the examination. No abnormality was detected in his diagnostic laboratory tests. Skin biopsy was taken, and histopathologic examination revealed proliferation of mast cells with ovoid and spindle nuclei with distinct cytoplasm borders around the capillaries, which was compatible with mastocytosis. Antihistamine was prescribed for pruritus control which was successful, but eruptions were persistent, and even 1-year phototherapy was not useful. PMID:27512209

  5. Management of adults with paediatric-onset chronic liver disease: strategic issues for transition care.

    PubMed

    Vajro, Pietro; Ferrante, Lorenza; Lenta, Selvaggia; Mandato, Claudia; Persico, Marcello

    2014-04-01

    Advances in the management of children with chronic liver disease have enabled many to survive into adulthood with or without their native livers, so that the most common of these conditions are becoming increasingly common in adult hepatology practice. Because the aetiologies of chronic liver disease in children may vary significantly from those in adulthood, adults with paediatric-onset chronic liver disease may often present with clinical manifestations unfamiliar to their adulthood physician. Transition of medical care to adult practice requires that the adulthood medical staff (primary physicians and subspecialists) have a comprehensive knowledge of childhood liver disease and their implications, and of the differences in caring for these patients. Pending still unavailable Scientific Society guidelines, this article examines causes, presentation modes, evaluation, management, and complications of the main paediatric-onset chronic liver diseases, and discusses key issues to aid in planning a program of transition from paediatric to adult patients.

  6. Giant Intradural Mucocele in a Patient with Adult Onset Seizures

    PubMed Central

    Kechagias, E.; Georgakoulias, N.; Ioakimidou, C.; Kyriazi, S.; Kontogeorgos, G.; Seretis, A.

    2009-01-01

    A rare case of mucopyocele in a patient who presented with epileptic seizures is reported. The computed tomography scan (CT) and the magnetic resonance (MR) imaging revealed an intradural extension of a giant fronto-ethmoidal mucopyocele, eroding the cribriform plate and compressing both frontal lobes. The lesion was removed by craniotomy with elimination of the mass effect and reconstruction of the anterior skull base. An intracranial-intradural mucopyocele is an extremely rare cause of generalized convulsion as a presenting symptom, with only 6 cases reported in the literature. The total removal of the lesion associated with anterior fossa reconstruction is the treatment of choice. PMID:20847833

  7. Childhood-onset (Juvenile) Huntington's disease: A rare case report

    PubMed Central

    Patra, Kailash Chandra; Shirolkar, Mukund Sudhir

    2015-01-01

    Huntington's disease (HD) is a rare dominantly inherited neurodegenerative disorder characterized clinically by a combination of abnormal involuntary (choreic) movements, neuropsychiatric manifestations, and dementia. It is caused by an unstable CAG repeat expansion in the gene IT15 which encodes a Huntingtin protein. We present a case of a 9 year old boy who had developmental regression starting from the age of 8 years of age along with resistant seizures and signs of cerebellar involvement with absence of chorea and is on anticonvulsants, baclofen, and tetrabenzine. As is expected in a case of childhood-onset HD, our patient is rapidly deteriorating and is currently in the terminal phase of his illness along with resistant convulsions. PMID:26557176

  8. Childhood-onset (Juvenile) Huntington's disease: A rare case report.

    PubMed

    Patra, Kailash Chandra; Shirolkar, Mukund Sudhir

    2015-01-01

    Huntington's disease (HD) is a rare dominantly inherited neurodegenerative disorder characterized clinically by a combination of abnormal involuntary (choreic) movements, neuropsychiatric manifestations, and dementia. It is caused by an unstable CAG repeat expansion in the gene IT15 which encodes a Huntingtin protein. We present a case of a 9 year old boy who had developmental regression starting from the age of 8 years of age along with resistant seizures and signs of cerebellar involvement with absence of chorea and is on anticonvulsants, baclofen, and tetrabenzine. As is expected in a case of childhood-onset HD, our patient is rapidly deteriorating and is currently in the terminal phase of his illness along with resistant convulsions.

  9. Early-Onset Psychoses: Comparison of Clinical Features and Adult Outcome in 3 Diagnostic Groups

    ERIC Educational Resources Information Center

    Ledda, Maria Giuseppina; Fratta, Anna Lisa; Pintor, Manuela; Zuddas, Alessandro; Cianchetti, Carlo

    2009-01-01

    A comparison of clinical features and adult outcome in adolescents with three types of psychotic disorders: schizophrenic (SPh), schizoaffective (SA) and bipolar with psychotic features (BPP). Subjects (n = 41) were finally diagnosed (DSM-IV criteria) with SPh (n = 17), SA (n = 11) or BPP (n = 13). Clinical evaluation took place at onset and at a…

  10. Physical Therapists' Perceptions of Providing Services to Adults with Childhood-Onset Neuromotor Disabilities

    ERIC Educational Resources Information Center

    Compton-Griffith, Kelsi N.; Cicirello, Nancy A.; Turner, Anne

    2011-01-01

    Adults with childhood-onset neuromotor disabilities face problems accessing health care services. There are often challenges finding primary care providers or specialized providers, such as physical therapists, who are knowledgeable about neuromotor disabilities. The purpose of this study was to determine the perceptions of physical therapists…

  11. Genetic architecture differences between pediatric and adult-onset inflammatory bowel diseases in the Polish population

    PubMed Central

    Ostrowski, Jerzy; Paziewska, Agnieszka; Lazowska, Izabella; Ambrozkiewicz, Filip; Goryca, Krzysztof; Kulecka, Maria; Rawa, Tomasz; Karczmarski, Jakub; Dabrowska, Michalina; Zeber-Lubecka, Natalia; Tomecki, Roman; Kluska, Anna; Balabas, Aneta; Piatkowska, Magdalena; Paczkowska, Katarzyna; Kierkus, Jaroslaw; Socha, Piotr; Lodyga, Michal; Rydzewska, Grazyna; Klopocka, Maria; Mierzwa, Grazyna; Iwanczak, Barbara; Krzesiek, Elzbieta; Bak-Drabik, Katarzyna; Walkowiak, Jaroslaw; Klincewicz, Beata; Radwan, Piotr; Grzybowska-Chlebowczyk, Urszula; Landowski, Piotr; Jankowska, Agnieszka; Korczowski, Bartosz; Starzynska, Teresa; Albrecht, Piotr; Mikula, Michal

    2016-01-01

    Most inflammatory bowel diseases (IBDs) are classic complex disorders represented by common alleles. Here we aimed to define the genetic architecture of pediatric and adult-onset IBDs for the Polish population. A total of 1495 patients were recruited, including 761 patients with Crohn’s disease (CD; 424 pediatric), 734 patients with ulcerative colitis (UC; 390 pediatric), and 934 healthy controls. Allelotyping employed a pooled-DNA genome-wide association study (GWAS) and was validated by individual genotyping. Whole exome sequencing (WES) was performed on 44 IBD patients diagnosed before 6 years of age, 45 patients diagnosed after 40 years of age, and 18 healthy controls. Altogether, out of 88 selected SNPs, 31 SNPs were replicated for association with IBD. A novel BRD2 (rs1049526) association reached significance of P = 5.2 × 10−11 and odds ratio (OR) = 2.43. Twenty SNPs were shared between pediatric and adult patients; 1 and 7 were unique to adult-onset and pediatric-onset IBD, respectively. WES identified numerous rare and potentially deleterious variants in IBD-associated or innate immunity-associated genes. Deleterious alleles in both groups were over-represented among rare variants in affected children. Our GWAS revealed differences in the polygenic architecture of pediatric- and adult-onset IBD. A significant accumulation of rare and deleterious variants in affected children suggests a contribution by yet unexplained genetic components. PMID:28008999

  12. Adult-Onset Antisocial Behavior Trajectories: Associations with Adolescent Family Processes and Emerging Adulthood Functioning

    ERIC Educational Resources Information Center

    Mata, Andrea D.; van Dulmen, Manfred H. M.

    2012-01-01

    Guided by conceptual and empirical work on emerging adulthood, this study investigated the role of closeness to mother and father and behavioral autonomy during adolescence on the development of adult-onset antisocial behavior. Using data from the National Longitudinal Study of Adolescent Health (Add Health), we identified four aggressive…

  13. Variation in genes related to cochlear biology is strongly associated with adult-onset deafness in border collies.

    PubMed

    Yokoyama, Jennifer S; Lam, Ernest T; Ruhe, Alison L; Erdman, Carolyn A; Robertson, Kathryn R; Webb, Aubrey A; Williams, D Colette; Chang, Melanie L; Hytönen, Marjo K; Lohi, Hannes; Hamilton, Steven P; Neff, Mark W

    2012-09-01

    Domestic dogs can suffer from hearing losses that can have profound impacts on working ability and quality of life. We have identified a type of adult-onset hearing loss in Border Collies that appears to have a genetic cause, with an earlier age of onset (3-5 years) than typically expected for aging dogs (8-10 years). Studying this complex trait within pure breeds of dog may greatly increase our ability to identify genomic regions associated with risk of hearing impairment in dogs and in humans. We performed a genome-wide association study (GWAS) to detect loci underlying adult-onset deafness in a sample of 20 affected and 28 control Border Collies. We identified a region on canine chromosome 6 that demonstrates extended support for association surrounding SNP Chr6.25819273 (p-value = 1.09 × 10(-13)). To further localize disease-associated variants, targeted next-generation sequencing (NGS) of one affected and two unaffected dogs was performed. Through additional validation based on targeted genotyping of additional cases (n = 23 total) and controls (n = 101 total) and an independent replication cohort of 16 cases and 265 controls, we identified variants in USP31 that were strongly associated with adult-onset deafness in Border Collies, suggesting the involvement of the NF-κB pathway. We found additional support for involvement of RBBP6, which is critical for cochlear development. These findings highlight the utility of GWAS-guided fine-mapping of genetic loci using targeted NGS to study hereditary disorders of the domestic dog that may be analogous to human disorders.

  14. Childhood-Onset Disease Predicts Mortality in an Adult Cohort of Patients with Systemic Lupus Erythematosus

    PubMed Central

    Hersh, Aimee O.; Trupin, Laura; Yazdany, Jinoos; Panopalis, Peter; Julian, Laura; Katz, Patricia; Criswell, Lindsey A.; Yelin, Edward

    2013-01-01

    Objective To examine childhood-onset disease as a predictor of mortality in a cohort of adult patients with systemic lupus erythematosus (SLE). Methods Data were derived from the University of California Lupus Outcomes Study, a longitudinal cohort of 957 adult subjects with SLE that includes 98 subjects with childhood-onset SLE. Baseline and follow-up data were obtained via telephone interviews conducted between 2002-2007. The number of deaths during 5 years of follow-up was determined and standardized mortality ratios (SMRs) for the cohort, and across age groups, were calculated. Kaplan-Meier life table analysis was used to compare mortality rates between childhood (defined as SLE diagnosis <18 years) and adult-onset SLE. Multivariate Cox proportional hazard models were used to determine predictors of mortality. Results During the median follow-up period of 48 months, 72 deaths (7.5% of subjects) occurred, including 9 (12.5%) among those with childhood-onset SLE. The overall SMR was 2.5 (CI 2.0-3.2). In Kaplan-Meier survival analysis, after adjusting for age, childhood-onset subjects were at increased risk for mortality throughout the follow-up period (p<0.0001). In a multivariate model adjusting for age, disease duration and other covariates, childhood-onset SLE was independently associated with an increased mortality risk (hazard ratio [HR]: 3.1; 95% confidence interval [CI]: 1.3-7.3), as was low socioeconomic status measured by education (HR: 1.9; 95% CI 1.1-3.2) and end stage renal disease (HR: 2.1; 95% CI 1.1-4.0). Conclusion Childhood-onset SLE was a strong predictor of mortality in this cohort. Interventions are needed to prevent early mortality in this population. PMID:20235215

  15. Childhood Onset Diagnoses in a Case Series of Teens at Clinical High Risk for Psychosis

    PubMed Central

    Mazzoni, Paola; Kimhy, David; Khan, Shamir; Posner, Kelly; Maayan, Lawrence; Eilenberg, Mara; Messinger, Julie; Kestenbaum, Clarice

    2009-01-01

    Abstract Reasons Schizophrenia is typically an adult neurodevelopmental disorder that has its antecedents in childhood and adolescence. Little is known about disorders “usually first diagnosed in infancy, childhood and adolescence” (e.g., childhood-onset disorders) in “prodromal” teens at heightened clinical risk for psychotic disorder. Main Findings Childhood-onset disorders were prevalent in putatively prodromal teens, including anxiety and disruptive disorders, attention-deficit/hyperactivity disorder (ADHD), and, surprisingly, elimination disorders. These may reflect developmental antecedents in psychotic disorders such as schizophrenia. Key Data and Statistics A case series of 9 teens (ages 13–17) identified as prodromal to psychosis were evaluated with the Kiddie Schedule for Affective Disorders and Schizophrenia–Present and Lifetime Version (K-SADS-PL). Childhood-onset diagnoses commonly endorsed (threshold or subthreshold) included ADHD (5/9), oppositional defiant disorder (5/9), enuresis or encopresis (4/9), conduct disorder (2/9), separation anxiety (3/9), and transient tic disorder (2/9). Enuresis was identified in 3 of the 4 older teens (ages 15–17). Major Conclusions An understanding of the childhood-onset disorders that occur in teens at risk for psychotic illnesses, such as schizophrenia, can shed light on the pathophysiology of schizophrenia and potentially inform early identification and intervention. PMID:20035596

  16. Mapping a gene for adult-onset primary open-angle glaucoma to chromosome 3q

    SciTech Connect

    Wirtz, M.K.; Samples, J.R.; Kramer, P.L.

    1997-02-01

    Glaucoma is the third-leading cause of blindness in the world, affecting >13.5 million people. Adult-on-set primary open-angle glaucoma (POAG) is the most common form of glaucoma in the United States. We present a family in which adult-onset POAG is inherited as an autosomal dominant trait. Twelve affected family members were identified from 44 at-risk individuals. The disease-causing gene was mapped to chromosome 3q21-24, with analysis of recombinant haplotypes suggesting a total inclusion region of 11.1 cM between markers D3S3637 and D3S1744. This is the first report of mapping of an adult-onset POAG gene to chromosome 3q, gene symbol GLC1C. 57 refs., 3 figs., 3 tabs.

  17. Epidemiology of adult-onset hydrocephalus: institutional experience with 2001 patients.

    PubMed

    Bir, Shyamal C; Patra, Devi Prasad; Maiti, Tanmoy K; Sun, Hai; Guthikonda, Bharat; Notarianni, Christina; Nanda, Anil

    2016-09-01

    OBJECTIVE Adult-onset hydrocephalus is not commonly discussed in the literature, especially regarding its demographic distribution. In contrast to pediatric hydrocephalus, which is related to a primary CSF pathway defect, its development in adults is often secondary to other pathologies. In this study, the authors investigated the epidemiology of adult-onset hydrocephalus as it pertains to different etiologies and in reference to age, sex, and race distributions. METHODS The authors retrospectively reviewed the clinical notes of 2001 patients with adult-onset hydrocephalus who presented to Louisiana State University Health Sciences Center within a 25-year span. Significant differences between the groups were analyzed by a chi-square test; p < 0.05 was considered significant. RESULTS The overall mean (± SEM) incidence of adult hydrocephalus in this population was 77 ± 30 per year, with a significant increase in incidence in the past decade (55 ± 3 [1990-2003] vs 102 ± 6 [2004-2015]; p < 0.0001). Hydrocephalus in a majority of the patients had a vascular etiology (45.5%) or was a result of a tumor (30.2%). The incidence of hydrocephalus in different age groups varied according to various pathologies. The incidence was significantly higher in males with normal-pressure hydrocephalus (p = 0.03) or head injury (p = 0.01) and higher in females with pseudotumor cerebri (p < 0.0001). In addition, the overall incidence of hydrocephalus was significantly higher in Caucasian patients (p = 0.0002) than in those of any other race. CONCLUSIONS Knowledge of the demographic variations in adult-onset hydrocephalus is helpful in achieving better risk stratification and better managing the disease in patients. For general applicability, these results should be validated in a large-scale meta-analysis based on a national population database.

  18. Neurobrucellosis Presented with a Hyperacute Onset: A Case Report

    PubMed Central

    KHADEMI, Arefeh; POURSADEGHFARD, Maryam; NIKANDISH NOUBAR, Reza

    2016-01-01

    Neurobrucellosis is uncommon; however, it is an important complication of brucellosis, which could be seen in any stage of the disease. It presents with different kinds of neurology manifestations and diagnosis is mainly made on history, physical examination and laboratory tests. The clinical course of the disease is relatively insidious and the most common pattern of presentation is subacute or chronic. It has a long-term treatment period and its response to treatment is slow. Here, we report a case of an apparent healthy 25 yr-old Afghani woman from Fars Province (south of Iran) that presented at first with hyperacute onset of headache and abnormal behavior and diagnosed neurobrucellosis in Nov 2015. In endemic areas, neurobrucellosis should be considered for each patient referred with unexplained neurological problems. PMID:28053932

  19. A nonsense mutation of human XRCC4 is associated with adult-onset progressive encephalocardiomyopathy

    PubMed Central

    Bee, Leonardo; Nasca, Alessia; Zanolini, Alice; Cendron, Filippo; d'Adamo, Pio; Costa, Rodolfo; Lamperti, Costanza; Celotti, Lucia; Ghezzi, Daniele; Zeviani, Massimo

    2015-01-01

    We studied two monozygotic twins, born to first cousins, affected by a multisystem disease. At birth, they both presented with bilateral cryptorchidism and malformations. Since early adulthood, they developed a slowly progressive neurological syndrome, with cerebellar and pyramidal signs, cognitive impairment, and depression. Dilating cardiomyopathy is also present in both. By whole-exome sequencing, we found a homozygous nucleotide change in XRCC4 (c.673C>T), predicted to introduce a premature stop codon (p.R225*). XRCC4 transcript levels were profoundly reduced, and the protein was undetectable in patients' skin fibroblasts. XRCC4 plays an important role in non-homologous end joining of DNA double-strand breaks (DSB), a system that is involved in repairing DNA damage from, for example, ionizing radiations. Gamma-irradiated mutant cells demonstrated reduction, but not abolition, of DSB repair. In contrast with embryonic lethality of the Xrcc4 KO mouse, nonsense mutations in human XRCC4 have recently been associated with primordial dwarfism and, in our cases, with adult-onset neurological impairment, suggesting an important role for DNA repair in the brain. Surprisingly, neither immunodeficiency nor predisposition to malignancy was reported in these patients. PMID:25872942

  20. A new structural approach to genomic discovery of disease: example of adult-onset diabetes.

    PubMed

    Sirovich, Lawrence

    2016-12-01

    This paper reports on an investigation of disease discovery from genomic data, by methods which depart substantially from customary practices found in the investigation of genome-wide association studies. Such data in general are composed of the genomic content from two contrasting phenotypes, e.g., disease versus control populations, and the analysis proceeds under the hypothesis that populational dissimilarities might reveal disease risk alleles. The proposed suite of new methods is in part based on information theory (Shannon in Bell Syst Tech J 27:379-423, 1948a; Bell Syst Tech J 27:623-656, 1948b; Jaynes in Phys Rev 106:620-630, 1957), and strong evidence will be given of the effectiveness of this new approach. The methodology extends naturally and successfully to predicting genomic disposition to disease arising from large collections of weakly contributing genomic loci. Evidence will be advanced that the example of adult-onset diabetes ("type 2 diabetes") is such a candidate disease, and in this case, probably for the first time, it can be demonstrated that disease prediction is possible. Another novel element of this study is the search and identification of potential beneficial genomic loci that may counter a disease. The generality of the methodology suggests that it might extend to other diseases.

  1. Clinical and histopathological features of cutaneous manifestations of adult-onset Still disease.

    PubMed

    Santa, Erin; McFalls, Jeanne M; Sahu, Joya; Lee, Jason B

    2017-03-25

    Adult-onset Still disease (AOSD) is a rare autoinflammatory syndrome characterized by recurring fevers, arthralgia, and consistent laboratory abnormalities that include leukocytosis and hyperferritinemia. Skin findings accompany the disease in nearly 90% of the cases. Early reports described evanescent, pruritic, salmon-pink or urticarial lesions, referred to as the typical eruption of AOSD. Histopathologic findings consist of superficial perivascular dermatitis with varying number of interstitial neutrophils. Later reports described a more persistent rash that tended to be photodistributed, hyperpigmented, often in a linear configuration, sometimes in a rippled pattern, referred to as the atypical eruption of AOSD. The presence of individual necrotic keratinocytes in the upper spinous layer has been the consistent histopathologic finding. The persistent rash may not represent an atypical presentation of AOSD as recent reports indicate a high prevalence of the rash. Emerging data also suggest that patients with persistent eruption have a worse prognosis. The recognition of the clinical and histopathological findings of skin eruptions of AOSD may facilitate an earlier diagnosis, potentially improving disease outcome. Herein, clinical and histopathological features of cutaneous manifestation of AOSD in two Asian women are highlighted accompanied by relevant review of the disease.

  2. Updates in adult-onset Still disease: Atypical cutaneous manifestations and associations with delayed malignancy.

    PubMed

    Sun, Natalie Z; Brezinski, Elizabeth A; Berliner, Jacqueline; Haemel, Anna; Connolly, M Kari; Gensler, Lianne; McCalmont, Timothy H; Shinkai, Kanade

    2015-08-01

    Adult-onset Still disease (AOSD) is a systemic inflammatory disorder that is clinically characterized by a heterogeneous constellation of symptoms and signs. Though an evanescent eruption is the classic cutaneous finding, recent literature has highlighted atypical rashes associated with Still disease. A second emerging concept in presentations of AOSD is its association with malignancy. This review focuses on these concepts: the clinical spectrum of atypical skin manifestations and AOSD as a paraneoplastic phenomenon. PubMed-MEDLINE was screened for peer-reviewed articles describing atypical presentations of AOSD and cases associated with malignancy. Erythematous, brown or violaceous, persistent papules and plaques were the most common cutaneous finding (28/30 [93%]). Linear configurations were also rarely described. Of these patients, 81% concurrently had the typical evanescent skin eruption. There were 31 patients with associated malignancies, most commonly breast cancer and lymphoma. The diagnosis of malignancy did not precede or immediately follow a clinical presentation otherwise consistent with AOSD in a considerable subset of patients (42%). Understanding the cutaneous spectrum of AOSD and heightened awareness for its delayed association with malignancy may lead to improved recognition of cutaneous variants and reinforce the need for diagnostic evaluation and long-term follow-up for malignancy in patients with this clinical presentation.

  3. [Adult-onset ataxia-telangiectasia. A clinical and therapeutic observation].

    PubMed

    Gazulla, J; Benavente, I; Sarasa Barrio, M

    2006-10-01

    A case of adult-onset ataxia-telangiectasia (AT) is presented, with debut at the age of 18 years and survival into the fourth decade. The clinical picture included cerebellar ataxia, distal weakness and hypopalesthesia in the lower limbs, oculomotor apraxia, dysarthria, and conjunctival telangiectasiae. Carcinoembrionic antigen was raised in plasma. MR imaging showed atrophy of the cerebellar vermis and thinning of the spinal cord. Deficiencies of gamma-aminobutyric acid and glutamate have been found in the cerebellar cortex in a case of AT. These were attributed to the loss of Purkinje cells and granule cells. In spite of some ataxias having improved with the gabaergic drugs gabapentin and tiagabine, the administration of gabapentin, acetazolamide and a placebo, did not benefit this patient. Pregabalin, 225 mg/day, ameliorated the ataxia unexpectedly, with further improvement after the addition of tiagabine. The authors suggest that the beneficial effect observed might have been due, either to the higher affinity of pregabalin towards alpha2-delta, a subtype of the alpha2-delta subunit which forms part of the voltage-gated calcium channel; either to the profusion of this subtype in the Purkinje cell layer, or to its larger capacity to let calcium into the neuron; or to the combination of these. These differences with gabapentin could explain the higher power of pregabalin in the stimulation of the cerebellar structures, thus justifying the improvement of ataxia in this case of AT. A synergistic effect with pregabalin is proposed as the cause of the improvement obtained with the addition of tiagabine.

  4. A novel mouse model that recapitulates adult-onset glycogenosis type 4

    PubMed Central

    Orhan Akman, H.; Emmanuele, Valentina; Kurt, Yasemin Gülcan; Kurt, Bülent; Sheiko, Tatiana; DiMauro, Salvatore; Craigen, William J.

    2015-01-01

    Glycogen storage disease type IV (GSD IV) is a rare autosomal recessive disorder caused by deficiency of the glycogen-branching enzyme (GBE). The diagnostic hallmark of the disease is the accumulation of a poorly branched form of glycogen known as polyglucosan (PG). The disease is clinically heterogeneous, with variable tissue involvement and age at onset. Complete loss of enzyme activity is lethal in utero or in infancy and affects primarily the muscle and the liver. However, residual enzyme activity as low as 5–20% leads to juvenile or adult onset of a disorder that primarily affects the central and peripheral nervous system and muscles and in the latter is termed adult polyglucosan body disease (APBD). Here, we describe a mouse model of GSD IV that reflects this spectrum of disease. Homologous recombination was used to knock in the most common GBE1 mutation p.Y329S c.986A > C found in APBD patients of Ashkenazi Jewish decent. Mice homozygous for this allele (Gbe1ys/ys) exhibit a phenotype similar to APBD, with widespread accumulation of PG. Adult mice exhibit progressive neuromuscular dysfunction and die prematurely. While the onset of symptoms is limited to adult mice, PG accumulates in tissues of newborn mice but is initially absent from the cerebral cortex and heart muscle. Thus, PG is well tolerated in most tissues, but the eventual accumulation in neurons and their axons causes neuropathy that leads to hind limb spasticity and premature death. This mouse model mimics the pathology and pathophysiologic features of human adult-onset branching enzyme deficiency. PMID:26385640

  5. Fever of unknown origin and leukemoid reaction as initial presentation of adult-onset Still's disease.

    PubMed

    Pardo-Cabello, Alfredo José; Manzano-Gamero, Victoria; Javier-Martínez, Rosario

    2014-01-01

    Adult Still's Disease has been reported as cause of Fever of Unknown Origin. Leukocytosis has been described as a common haematological abnormality in Adult Still's Disease. In some rare cases, leukemoid reaction has been reported associated to Still's Disease. We report the case of Adult Still's Disease presenting as Fever of Unknown Origin and leukemoid reaction in a patient with Down Syndrome. The patient needed high dosage of corticosteroids to control the disease and haematological findings.

  6. Effects of Age, Gender, Bolus Volume, Bolus Viscosity, and Gustation on Swallowing Apnea Onset Relative to Lingual Bolus Propulsion Onset in Normal Adults

    ERIC Educational Resources Information Center

    Hiss, Susan G.; Strauss, Monica; Treole, Kathleen; Stuart, Andrew; Boutilier, Susan

    2004-01-01

    The purpose of this study was to ascertain the normal relation of swallowing apnea (SA) onset relative to lingual bolus propulsion along with factors that may alter this relation. Forty adults, composed of 10 men and 10 women in each of 2 age groups (i.e., 20-30 and 63-79 years) participated. SA onset was assessed during 5- and 20-ml bolus volumes…

  7. [Pathophysiology, subtypes, and treatments of adult-onset Still's disease: An update].

    PubMed

    Gerfaud-Valentin, M; Sève, P; Hot, A; Broussolle, C; Jamilloux, Y

    2015-05-01

    Adult-onset Still's disease is a rare and difficult to diagnose multisystemic disorder considered as a multigenic autoinflammatory syndrome. Its immunopathogenesis seems to be at the crossroads between inflammasomopathies and hemophagocytic lymphohistiocytosis, the most severe manifestation of the disease. According to recent insights in the pathophysiology and thanks to cohort studies and therapeutic trials, two phenotypes of adult-onset Still's disease may be distinguished: a systemic pattern, initially highly symptomatic and with a higher risk to exhibit life-threatening complications such as reactive hemophagocytic lymphohistiocytosis, where interleukin-1 blockade seems to be very effective, a chronic articular pattern, more indolent with arthritis in the foreground and less severe systemic manifestations, which would threat functional outcome and where interleukin-6 blockade seems to be more effective. This review focuses on these data.

  8. Effects of diabetes mellitus on bone mass in juvenile and adult-onset diabetes.

    PubMed

    Levin, M E; Boisseau, V C; Avioli, L V

    1976-01-29

    To assess the influence of diabetes mellitus on bone metabolism, we measured skeletal mass in the forearms of 35 patients with juvenile diabetes on insulin and 101 stable patients with adult-onset diabetes, on diet alone, insulin, or oral hypoglycemic agents. There was a significant loss of bone mass in both juvenile and adult-onset diabetes (P less than 0.01) as compared to controls matched for age and sex. The decrease was already present in patients with diabetes of less than five years' duration. Bone loss and duration of the diabetes did not correlate; the greatest decrease in bone mass was observed in the patients receiving oral agents. These data are consistent with the hypothesis that the loss of skeletal tissue in diabetes reflects the underlying disease since it occurs early and is not related to severity as evidenced by the need for insulin, to duration, or to treatment with insulin or diet alone.

  9. Epigenetic transgenerational inheritance of vinclozolin induced mouse adult onset disease and associated sperm epigenome biomarkers.

    PubMed

    Guerrero-Bosagna, Carlos; Covert, Trevor R; Haque, Md M; Settles, Matthew; Nilsson, Eric E; Anway, Matthew D; Skinner, Michael K

    2012-12-01

    The endocrine disruptor vinclozolin has previously been shown to promote epigenetic transgenerational inheritance of adult onset disease in the rat. The current study was designed to investigate the transgenerational actions of vinclozolin on the mouse. Transient exposure of the F0 generation gestating female during gonadal sex determination promoted transgenerational adult onset disease in F3 generation male and female mice, including spermatogenic cell defects, testicular abnormalities, prostate abnormalities, kidney abnormalities and polycystic ovarian disease. Pathology analysis demonstrated 75% of the vinclozolin lineage animals developed disease with 34% having two or more different disease states. Interestingly, the vinclozolin induced transgenerational disease was observed in the outbred CD-1 strain, but not the inbred 129 mouse strain. Analysis of the F3 generation sperm epigenome identified differential DNA methylation regions that can potentially be utilized as epigenetic biomarkers for transgenerational exposure and disease.

  10. How does dementia onset in parents influence unmarried adult children's wealth.

    PubMed

    Arora, Kanika

    2016-03-01

    There is a growing concern that long-term care (LTC) needs of older adults lead to negative financial consequences for their family members. This paper examines whether the onset of dementia in parents influences wealth change among unmarried adult children regardless of their status as informal caregivers. Longitudinal data from seven waves (1998-2010) of the Health and Retirement Study (1540 person-wave observations) are used to analyze this question. Unconditional quantile regressions demonstrate that as a result of parental dementia diagnosis, unmarried adult children have lower wealth accumulation above the median of the wealth change distribution. These effects are more pronounced for unmarried adult children without siblings. Further, this response is observed to persist in the subsequent period as well. Both losses in labor income and nursing home expenditures may play a role in leading to wealth declines.

  11. Non-motor symptoms in patients with adult-onset focal dystonia: Sensory and psychiatric disturbances.

    PubMed

    Conte, Antonella; Berardelli, Isabella; Ferrazzano, Gina; Pasquini, Massimo; Berardelli, Alfredo; Fabbrini, Giovanni

    2016-01-01

    Dystonia is characterized by the presence of involuntary muscle contractions that cause abnormal movements and posture. Adult onset focal dystonia include cervical dystonia, blepharospasm, arm dystonia and laryngeal dystonia. Besides motor manifestations, patients with focal dystonia frequently also display non-motor signs and symptoms. In this paper, we review the evidence of sensory and psychiatric disturbances in adult patients with focal dystonia. Clinical studies and neurophysiological investigations consistently show that the sensory system is involved in dystonia. Several studies have also demonstrated that neuropsychiatric disorders, particularly depression and anxiety, are more frequent in patients with focal dystonia, whereas data on obsessive compulsive disorders are more contrasting.

  12. Dioxin (TCDD) induces epigenetic transgenerational inheritance of adult onset disease and sperm epimutations.

    PubMed

    Manikkam, Mohan; Tracey, Rebecca; Guerrero-Bosagna, Carlos; Skinner, Michael K

    2012-01-01

    Environmental compounds can promote epigenetic transgenerational inheritance of adult-onset disease in subsequent generations following ancestral exposure during fetal gonadal sex determination. The current study examined the ability of dioxin (2,3,7,8-tetrachlorodibenzo[p]dioxin, TCDD) to promote epigenetic transgenerational inheritance of disease and DNA methylation epimutations in sperm. Gestating F0 generation females were exposed to dioxin during fetal day 8 to 14 and adult-onset disease was evaluated in F1 and F3 generation rats. The incidences of total disease and multiple disease increased in F1 and F3 generations. Prostate disease, ovarian primordial follicle loss and polycystic ovary disease were increased in F1 generation dioxin lineage. Kidney disease in males, pubertal abnormalities in females, ovarian primordial follicle loss and polycystic ovary disease were increased in F3 generation dioxin lineage animals. Analysis of the F3 generation sperm epigenome identified 50 differentially DNA methylated regions (DMR) in gene promoters. These DMR provide potential epigenetic biomarkers for transgenerational disease and ancestral environmental exposures. Observations demonstrate dioxin exposure of a gestating female promotes epigenetic transgenerational inheritance of adult onset disease and sperm epimutations.

  13. Stroke prevention by direct revascularization for patients with adult-onset moyamoya disease presenting with ischemia.

    PubMed

    Kim, Tackeun; Oh, Chang Wan; Kwon, O-Ki; Hwang, Gyojun; Kim, Jeong Eun; Kang, Hyun-Seung; Cho, Won-Sang; Bang, Jae Seung

    2016-06-01

    OBJECT Moyamoya disease (MMD) is a progressive disease that can cause recurrent stroke. The authors undertook this retrospective case-control study with a large sample size in an attempt to assess the efficacy of direct or combined revascularization surgery for ischemia in adults with MMD. METHODS The authors investigated cases involving patients with moyamoya disease presenting with ischemia who visited Seoul National University Bundang Hospital and Seoul National University Hospital between 2000 and 2014. Among 441 eligible patients, 301 underwent revascularization surgery and 140 were treated conservatively. Variables evaluated included age at diagnosis, sex, surgical record, Suzuki stage, and occurrence of stroke. Patients were stratified into 2 groups based on whether or not they had undergone revascularization surgery. Actuarial 1-, 5-, and 10-year stroke rates were calculated using the life table method. Risk factor analysis for 5-year stroke occurrence was conducted with multivariate regression. RESULTS Of the 441 patients, 301 had been surgically treated (revascularization group) and 140 had not (control group). The mean follow-up durations were 45 and 77 months, respectively. The actuarial 10-year cumulative incidence rate for any kind of stroke was significantly lower in the revascularization group (9.4%) than in the control group (19.6%) (p = 0.041); the relative risk reduction (RRR) was also superior (52.0%) in the revascularization group, and the number needed to treat was 10. The 10-year rate of ischemic stroke was greater (13.3%) in the control group than in the revascularization group (3.9%) (p = 0.019). The RRR for ischemic stroke in the revascularization group was 70.7%, and the number needed to treat was 11. However, the actuarial 1- and 5-year rates of ischemic stroke did not significantly differently between the groups. Overall, revascularization surgery was shown to be an independent protective factor, as revealed by multivariate analysis

  14. Chinese new immigrant mothers' perception about adult-onset non-communicable diseases prevention during childhood.

    PubMed

    Wang, Linda Dong Ling; Lam, Wendy Wing Tak; Wu, Joseph Tsz Kei; Fielding, Richard

    2015-12-01

    Many non-communicable diseases (NCDs) are largely preventable via behaviour change and healthy lifestyle, which may be best established during childhood. This study sought insights into Chinese new immigrant mothers' perceptions about adult-onset NCDs prevention during childhood. Twenty-three semi-structured interviews were carried out with new immigrant mothers from mainland China who had at least one child aged 14 years or younger living in Hong Kong. Interviews were audio taped, transcribed and analysed using a Grounded Theory approach. The present study identified three major themes: perceived causes of adult NCDs, beliefs about NCDs prevention and everyday health information practices. Unhealthy lifestyle, contaminated food and environment pollution were perceived as the primary causes of adult NCDs. Less than half of the participants recognized that parents had responsibility for helping children establish healthy behaviours from an early age to prevent diseases in later life. Most participants expressed helplessness about chronic diseases prevention due to lack of knowledge of prevention, being perceived as beyond individual control. Many participants experienced barriers to seeking health information, the most common sources of health information being interpersonal conversation and television. Participants' everyday information practice was passive and generally lacked awareness regarding early prevention of adult-onset NCDs. Updated understanding of this issue has notable implications for future health promotion interventions.

  15. Distinguishing adult-onset asthma from COPD: a review and a new approach

    PubMed Central

    Abramson, Michael J; Perret, Jennifer L; Dharmage, Shyamali C; McDonald, Vanessa M; McDonald, Christine F

    2014-01-01

    Adult-onset asthma and chronic obstructive pulmonary disease (COPD) are major public health burdens. This review presents a comprehensive synopsis of their epidemiology, pathophysiology, and clinical presentations; describes how they can be distinguished; and considers both established and proposed new approaches to their management. Both adult-onset asthma and COPD are complex diseases arising from gene–environment interactions. Early life exposures such as childhood infections, smoke, obesity, and allergy influence adult-onset asthma. While the established environmental risk factors for COPD are adult tobacco and biomass smoke, there is emerging evidence that some childhood exposures such as maternal smoking and infections may cause COPD. Asthma has been characterized predominantly by Type 2 helper T cell (Th2) cytokine-mediated eosinophilic airway inflammation associated with airway hyperresponsiveness. In established COPD, the inflammatory cell infiltrate in small airways comprises predominantly neutrophils and cytotoxic T cells (CD8 positive lymphocytes). Parenchymal destruction (emphysema) in COPD is associated with loss of lung tissue elasticity, and small airways collapse during exhalation. The precise definition of chronic airflow limitation is affected by age; a fixed cut-off of forced expiratory volume in 1 second/forced vital capacity leads to overdiagnosis of COPD in the elderly. Traditional approaches to distinguishing between asthma and COPD have highlighted age of onset, variability of symptoms, reversibility of airflow limitation, and atopy. Each of these is associated with error due to overlap and convergence of clinical characteristics. The management of chronic stable asthma and COPD is similarly convergent. New approaches to the management of obstructive airway diseases in adults have been proposed based on inflammometry and also multidimensional assessment, which focuses on the four domains of the airways, comorbidity, self-management, and

  16. Parental smoking in pregnancy and the risks of adult-onset hypertension.

    PubMed

    de Jonge, Layla L; Harris, Holly R; Rich-Edwards, Janet W; Willett, Walter C; Forman, Michele R; Jaddoe, Vincent W V; Michels, Karin B

    2013-02-01

    Fetal exposure to parental smoking may lead to developmental adaptations and promote various diseases in later life. This study evaluated the associations of parental smoking during pregnancy with the risk of hypertension in the daughter in adulthood, and assessed whether these associations are explained by birth weight or body weight throughout life. We used data on 33086 participants of the Nurses' Health Study II and the Nurses' Mothers' Cohort. Cox proportional hazards models were used to examine the associations of maternal and paternal smoking during pregnancy with the nurse daughter, with self-reported physician-diagnosed hypertension from 1989 until 2007. Overall, 8575 (25.9%) mothers and 18874 (57.0%) fathers smoked during pregnancy. During follow-up, 7825 incident cases of adult-onset hypertension were reported. Both maternal and paternal smoking of ≥ 15 cigarettes/d during pregnancy were associated with increased risks of hypertension (rate ratio, 1.19; 95% CI, 1.09-1.29; and rate ratio, 1.18; 95% CI, 1.12-1.25, respectively) in the age-adjusted models. Further adjustment for birth weight did not affect the effect estimates appreciably, whereas additional adjustment for body shape and weight until age 18, or current body mass index, attenuated the associations with both maternal and paternal smoking (rate ratio, 1.07; 95% CI, 0.98-1.16; and rate ratio, 1.06; 95% CI, 1.01-1.12, respectively). The associations of parental smoking during pregnancy with the risk of hypertension in the offspring were largely explained by body weight throughout life, suggesting that these associations may not reflect direct intrauterine mechanisms.

  17. Pesticide methoxychlor promotes the epigenetic transgenerational inheritance of adult-onset disease through the female germline.

    PubMed

    Manikkam, Mohan; Haque, M Muksitul; Guerrero-Bosagna, Carlos; Nilsson, Eric E; Skinner, Michael K

    2014-01-01

    Environmental compounds including fungicides, plastics, pesticides, dioxin and hydrocarbons can promote the epigenetic transgenerational inheritance of adult-onset disease in future generation progeny following ancestral exposure during the critical period of fetal gonadal sex determination. This study examined the actions of the pesticide methoxychlor to promote the epigenetic transgenerational inheritance of adult-onset disease and associated differential DNA methylation regions (i.e. epimutations) in sperm. Gestating F0 generation female rats were transiently exposed to methoxychlor during fetal gonadal development (gestation days 8 to 14) and then adult-onset disease was evaluated in adult F1 and F3 (great-grand offspring) generation progeny for control (vehicle exposed) and methoxychlor lineage offspring. There were increases in the incidence of kidney disease, ovary disease, and obesity in the methoxychlor lineage animals. In females and males the incidence of disease increased in both the F1 and the F3 generations and the incidence of multiple disease increased in the F3 generation. There was increased disease incidence in F4 generation reverse outcross (female) offspring indicating disease transmission was primarily transmitted through the female germline. Analysis of the F3 generation sperm epigenome of the methoxychlor lineage males identified differentially DNA methylated regions (DMR) termed epimutations in a genome-wide gene promoters analysis. These epimutations were found to be methoxychlor exposure specific in comparison with other exposure specific sperm epimutation signatures. Observations indicate that the pesticide methoxychlor has the potential to promote the epigenetic transgenerational inheritance of disease and the sperm epimutations appear to provide exposure specific epigenetic biomarkers for transgenerational disease and ancestral environmental exposures.

  18. Predicting abscesses in adults with community-onset monomicrobial Enterobacteriaceae bacteremia: microorganisms matters.

    PubMed

    Lee, Chung-Hsun; Lee, Ching-Chi; Hsieh, Chih-Chia; Hong, Ming-Yuan; Chi, Chih-Hsien

    2016-01-01

    Enterobacteriaceae is a leading pathogen of community-onset bacteremia. This study aims to establish a predictive scoring algorithm to identify adults with community-onset Enterobacteriaceae bacteremia who are at risk for abscesses. Of the total 1262 adults, 152 (12.0%) with abscess occurrence were noted. The 6 risk factors significantly associated with abscess occurrence-liver cirrhosis, diabetes mellitus, thrombocytopenia and high C-reactive protein (>100 mg/L) at bacteremic onset, delayed defervescence, and bacteremia-causing Klebsiella pneumoniae-were each assigned +1 point to form the scoring algorithm. In contrast, the elderly, fatal comorbidity (McCabe classification), and bacteremia-causing Escherichia coli were each assigned -1 point, owing to their negative associations with abscess occurrence. Using the proposed scoring algorithm, a cut-off value of +1 yielded a high sensitivity (85.5%) and an acceptable specificity (60.4%). Although the proposed predictive model needs further validation, this simple scoring algorithm may be useful for the early identification of abscesses by clinicians.

  19. The Onset of Depression During the Great Recession: Foreclosure and Older Adult Mental Health

    PubMed Central

    Cagney, Kathleen A.; Browning, Christopher R.; Iveniuk, James; English, Ned

    2014-01-01

    Objectives. We examined neighborhood-level foreclosure rates and their association with onset of depressive symptoms in older adults. Methods. We linked data from the National Social Life, Health, and Aging Project (2005–2006 and 2010–2011 waves), a longitudinal, nationally representative survey, to data on zip code–level foreclosure rates, and predicted the onset of depressive symptoms using logit-linked regression. Results. Multiple stages of the foreclosure process predicted the onset of depressive symptoms, with adjustment for demographic characteristics and changes in household assets, neighborhood poverty, and visible neighborhood disorder. A large increase in the number of notices of default (odds ratio [OR] = 1.75; 95% confidence interval [CI] = 1.14, 2.67) and properties returning to ownership by the bank (OR = 1.62; 95% CI = 1.06, 2.47) were associated with depressive symptoms. A large increase in properties going to auction was suggestive of such an association (OR = 1.45; 95% CI = 0.96, 2.19). Age, fewer years of education, and functional limitations also were predictive. Conclusions. Increases in neighborhood-level foreclosure represent an important risk factor for depression in older adults. These results accord with previous studies suggesting that the effects of economic crises are typically first experienced through deficits in emotional well-being. PMID:24446830

  20. Juvenile versus adult-onset ankylosing spondylitis -- clinical, radiographic, and social outcomes. a systematic review.

    PubMed

    Jadon, Deepak R; Ramanan, Athimalaipet V; Sengupta, Raj

    2013-11-01

    Ankylosing spondylitis (AS) has 2 main modes of onset: juvenile-onset AS (JoAS) and adult-onset AS (AoAS). It is not known whether JoAS is a subtype of AS, or AS modulated by early age of onset and longer disease duration. We performed a systematic review of the literature, identifying 12 articles and 1 abstract directly comparing JoAS and AoAS cohorts, with observational study design. Patients with JoAS appear to have more peripheral joint involvement both clinically and radiographically (especially knees and ankles) and more root joint involvement (hips and shoulders); they are more likely to proceed to hip arthroplasty and often initially present with peripheral rather than axial symptoms. Patients with AoAS appear to have more axial symptoms and radiographic disease, particularly in the lumbar spine, and worse axial metrology. In terms of other characteristics, more evidence is needed to confidently state whether JoAS and AoAS are different.

  1. Acute pneumonitis in a patient with adult-onset disease after toclizumab treatment with good response to anakinra.

    PubMed

    Sangüesa Gómez, Clara; Flores Robles, Bryan Josué; Jara Chinarro, Beatriz; Espinosa Malpartida, María; Barbadillo Mateos, Carmen

    Pulmonary involvement in the form of acute pneumonitis in adult-onset Still's disease (AOSD) is an uncommon manifestation, with few cases reported in the literature. We report the case of a 61-year-old male with 3 years of AOSD evolution, treated with methotrexate (MTX) and half-dose corticosteroids, which debuted with symptoms of fever, dyspnea and dry cough after 3 weeks of receiving the first dose of tocilizumab (TCZ). In the follow-up study showed leukocytosis with left shift, elevated serum ferritin and C-reactive protein standard. The chest CT scan showed ground-glass pattern predominantly in central and upper lobes and the BAL shows an increase in the percentage of lymphocyte with normal subpopulations and negative cultures. MTX and TCM were suspended, prednisone was increased to 30mg/day and within a week Anakinra 100mg/day SC was iniciated, noting in a few days a progressive clinical, analytical and radiological improvement.

  2. Heterogeneity and frequency of movement disorders in juvenile and adult-onset Niemann-Pick C disease.

    PubMed

    Anheim, Mathieu; Lagha-Boukbiza, Ouhaïd; Fleury-Lesaunier, Marie-Céline; Valenti-Hirsch, Maria-Paola; Hirsch, Edouard; Gervais-Bernard, Hélène; Broussolle, Emmanuel; Thobois, Stéphane; Vanier, Marie T; Latour, Philippe; Tranchant, Christine

    2014-01-01

    Niemann-Pick type C disease (NPC) is a recessive neurolipidosis. We report five adolescent and adult NPC cases to underscore the frequency and heterogeneity of movement disorders in NPC. Clinical, morphologic, biochemical and genetic study was performed in the five patients. Disease onset was between 8 and 50 years. Movement disorders were present in all cases, were heterogeneous and often combined [cerebellar ataxia (5/5), myoclonus (3/5), dystonia (2/5), chorea (1/5) and tremor (1/5)] and were the first sign in 4/5. Two patients were reported to have no vertical supranuclear gaze palsy (VSGP) at the first examination. Two patients experienced acute neuropsychiatric signs leading to death in one case due to myoclonic storm. Filipin staining was always positive. Two NPC1 mutations were identified in three patients, only one in two siblings. NPC should be considered in case of unexplained movement disorders, even when VSGP or cataplexy are not reported. Filipin staining remains a strong support for the diagnosis. Treatment with miglustat should be considered which is currently the only approved disease-specific treatment of NPC in children and adults.

  3. Herpes Zoster Meningitis Complicating Combined Tocilizumab and Cyclosporine Therapy for Adult-Onset Still's Disease

    PubMed Central

    Tsurukawa, Shinichiro; Iwanaga, Nozomi; Izumi, Yasumori; Shirakawa, Atsunori; Kawahara, Chieko; Shukuwa, Tetsuo; Inamoto, Miwako; Kawakami, Atsushi; Migita, Kiyoshi

    2016-01-01

    A 56-year-old female with refractory adult-onset Still's disease presented with ocular herpes zoster infection during TCZ treatment. After three days of acyclovir treatment (5 mg/kg), she developed a severe headache and high fever. Viral DNA isolation and cerebral spinal fluid abnormalities led to a herpes zoster meningitis diagnosis. Her meningitis was cured by high doses of intravenous acyclovir (10 mg/kg for 14 days). To our knowledge, this is the first report of meningeal herpes zoster infection in rheumatic diseases under TCZ treatment. PMID:27092286

  4. Lifestyle Risk Factors and New-Onset Diabetes Mellitus in Older Adults

    PubMed Central

    Mozaffarian, Dariush; Kamineni, Aruna; Carnethon, Mercedes; Djoussé, Luc; Mukamal, Kenneth J.; Siscovick, David

    2010-01-01

    Background The combined impact of lifestyle factors on incidence of diabetes mellitus later in life is not well established. The objective of this study was to determine how lifestyle factors, assessed in combination, relate to new-onset diabetes in a broad and relatively unselected population of older adults. Methods We prospectively examined associations of lifestyle factors, measured using repeated assessments later in life, with incident diabetes mellitus during a 10-year period (1989–1998) among 4883 men and women 65 years or older (mean [SD] age at baseline, 73[6] years) enrolled in the Cardiovascular Health Study. Low-risk lifestyle groups were defined by physical activity level (leisure-time activity and walking pace) above the median; dietary score (higher fiber intake and polyunsaturated to saturated fat ratio, lower trans-fat intake and lower mean glycemic index) in the top 2 quintiles; never smoked or former smoker more than 20 years ago or for fewer than 5 pack-years; alcohol use (predominantly light or moderate); body mass index less than 25 (calculated as weight in kilograms divided by height in meters squared); and waist circumference of 88 cm for women or 92 cm for men. The main outcome measure was incident diabetes defined annually by new use of insulin or oral hypoglycemic medications. We also evaluated fasting and 2-hour postchallenge glucose levels. Results During 34 539 person-years, 337 new cases of drug-treated diabetes mellitus occurred (9.8 per 1000 person-years). After adjustment for age, sex, race, educational level, and annual income, each lifestyle factor was independently associated with incident diabetes. Overall, the rate of incident diabetes was 35% lower (relative risk, 0.65; 95% confidence interval, 0.59–0.71) for each 1 additional lifestyle factor in the low-risk group. Participants whose physical activity level and dietary, smoking, and alcohol habits were all in the low-risk group had an 82% lower incidence of diabetes

  5. Adult-onset Still's disease and chronic recurrent multifocal osteomyelitis: a hitherto undescribed manifestation of autoinflammation.

    PubMed

    Rech, J; Manger, B; Lang, B; Schett, G; Wilhelm, M; Birkmann, J

    2012-06-01

    Still's disease and chronic recurrent multifocal osteomyelitis (CRMO) are febrile rheumatic diseases of unknown etiology, which predominantly affect children but can also have their initial manifestation in adults. Both can present as intermittent, relapsing episodes and are considered potential candidates within the expanding spectrum of autoinflammatory disorders, although no genetic abnormalities have been described for either of them. Here, we describe a man with an initial manifestation of abacterial multifocal osteitis at the age of 41. During a relapsing-remitting course of his illness, he increasingly developed symptoms of adult-onset Still's disease (AOSD), and the diagnosis was established according to the Yamaguchi criteria. When treated with anakinra, not only the acute symptoms disappeared promptly, but also the osteitis went into complete remission. This is to our knowledge the first description of a simultaneous occurrence of these two manifestations of autoinflammation in adulthood.

  6. Compound heterozygote mutations in SPG7 in a family with adult-onset primary lateral sclerosis

    PubMed Central

    Yang, Yi; Lynch, David R.; Lukas, Thomas; Ahmeti, Kreshnik; Sleiman, Patrick M.A.; Ryan, Eanna; Schadt, Kimberly A.; Newman, Jordan H.; Deng, Han-Xiang; Siddique, Nailah

    2016-01-01

    Objective: To identify the genetic defect for adult-onset primary lateral sclerosis (PLS) in a family with 5 patients. Methods: Whole-exome sequencing was performed to identify the shared genetic variants in 3 affected members in a PLS family with 5 affected individuals. Sanger sequencing was used for validation of the variants and for cosegregation analysis. Mitochondrial activity for both patients and unaffected siblings was measured using a SeaHorse metabolic analyzer. Results: Whole-exome sequencing and subsequent cosegregation analysis demonstrated that compound heterozygous missense variants L695P and I743T in SPG7 were the only mutations cosegregating with the disease in an autosomal recessive fashion in this family. The parents and siblings are genetically heterozygous and clinically unaffected. Functional studies suggested that the PLS-associated SPG7 mutants affect mitochondrial function when glucose is reduced. Conclusions: Compound heterozygote mutations in SPG7 are associated with adult-onset PLS, extending the spectrum of SPG7-linked neurologic diseases. Patients with the PLS phenotype should have genetic testing for paraplegin, especially when the condition is familial. PMID:27123479

  7. Efficacy of Anakinra in Refractory Adult-Onset Still's Disease: Multicenter Study of 41 Patients and Literature Review.

    PubMed

    Ortiz-Sanjuán, Francisco; Blanco, Ricardo; Riancho-Zarrabeitia, Leyre; Castañeda, Santos; Olivé, Alejandro; Riveros, Anne; Velloso-Feijoo, María L; Narváez, Javier; Jiménez-Moleón, Inmaculada; Maiz-Alonso, Olga; Ordóñez, Carmen; Bernal, José A; Hernández, María V; Sifuentes-Giraldo, Walter A; Gómez-Arango, Catalina; Galíndez-Agirregoikoa, Eva; Blanco-Madrigal, Juan; Ortiz-Santamaria, Vera; del Blanco-Barnusell, Jordi; De Dios, Juan R; Moreno, Mireia; Fiter, Jordi; de los Riscos, Marina; Carreira, Patricia; Rodriguez-Valls, María J; González-Vela, M Carmen; Calvo-Río, Vanesa; Loricera, Javier; Palmou-Fontana, Natalia; Pina, Trinitario; Llorca, Javier; González-Gay, Miguel A

    2015-09-01

    Adult-onset Still's disease (AOSD) is often refractory to standard therapy. Anakinra (ANK), an interleukin-1 receptor antagonist, has demonstrated efficacy in single cases and small series of AOSD. We assessed the efficacy of ANK in a series of AOSD patients. Multicenter retrospective open-label study. ANK was used due to lack of efficacy to standard synthetic immunosuppressive drugs and in some cases also to at least 1 biologic agent. Forty-one patients (26 women/15 men) were recruited. They had a mean age of 34.4 ± 14 years and a median [interquartile range (IQR)] AOSD duration of 3.5 [2-6] years before ANK onset. At that time the most common clinical features were joint manifestations 87.8%, fever 78%, and cutaneous rash 58.5%. ANK yielded rapid and maintained clinical and laboratory improvement. After 1 year of therapy, the frequency of joint and cutaneous manifestations had decreased to 41.5% and to 7.3% respectively, fever from 78% to 14.6%, anemia from 56.1% to 9.8%, and lymphadenopathy from 26.8% to 4.9%. A dramatic improvement of laboratory parameters was also achieved. The median [IQR] prednisone dose was also reduced from 20 [11.3-47.5] mg/day at ANK onset to 5 [0-10] at 12 months. After a median [IQR] follow-up of 16 [5-50] months, the most important side effects were cutaneous manifestations (n = 8), mild leukopenia (n = 3), myopathy (n = 1), and infections (n = 5). ANK is associated with rapid and maintained clinical and laboratory improvement, even in nonresponders to other biologic agents. However, joint manifestations are more refractory than the systemic manifestations.

  8. Sensorimotor Oscillations Prior to Speech Onset Reflect Altered Motor Networks in Adults Who Stutter

    PubMed Central

    Mersov, Anna-Maria; Jobst, Cecilia; Cheyne, Douglas O.; De Nil, Luc

    2016-01-01

    Adults who stutter (AWS) have demonstrated atypical coordination of motor and sensory regions during speech production. Yet little is known of the speech-motor network in AWS in the brief time window preceding audible speech onset. The purpose of the current study was to characterize neural oscillations in the speech-motor network during preparation for and execution of overt speech production in AWS using magnetoencephalography (MEG). Twelve AWS and 12 age-matched controls were presented with 220 words, each word embedded in a carrier phrase. Controls were presented with the same word list as their matched AWS participant. Neural oscillatory activity was localized using minimum-variance beamforming during two time periods of interest: speech preparation (prior to speech onset) and speech execution (following speech onset). Compared to controls, AWS showed stronger beta (15–25 Hz) suppression in the speech preparation stage, followed by stronger beta synchronization in the bilateral mouth motor cortex. AWS also recruited the right mouth motor cortex significantly earlier in the speech preparation stage compared to controls. Exaggerated motor preparation is discussed in the context of reduced coordination in the speech-motor network of AWS. It is further proposed that exaggerated beta synchronization may reflect a more strongly inhibited motor system that requires a stronger beta suppression to disengage prior to speech initiation. These novel findings highlight critical differences in the speech-motor network of AWS that occur prior to speech onset and emphasize the need to investigate further the speech-motor assembly in the stuttering population. PMID:27642279

  9. Mutated CTSF in adult-onset neuronal ceroid lipofuscinosis and FTD

    PubMed Central

    van der Zee, Julie; Mariën, Peter; Crols, Roeland; Van Mossevelde, Sara; Dillen, Lubina; Perrone, Federica; Engelborghs, Sebastiaan; Verhoeven, Jo; D'aes, Tine; Ceuterick-De Groote, Chantal; Sieben, Anne; Versijpt, Jan; Cras, Patrick; Martin, Jean-Jacques

    2016-01-01

    Objective: To investigate the molecular basis of a Belgian family with autosomal recessive adult-onset neuronal ceroid lipofuscinosis (ANCL or Kufs disease [KD]) with pronounced frontal lobe involvement and to expand the findings to a cohort of unrelated Belgian patients with frontotemporal dementia (FTD). Methods: Genetic screening in the ANCL family and FTD cohort (n = 461) was performed using exome sequencing and targeted massive parallel resequencing. Results: We identified a homozygous mutation (p.Ile404Thr) in the Cathepsin F (CTSF) gene cosegregating in the ANCL family. No other mutations were found that could explain the disease in this family. All 4 affected sibs developed motor symptoms and early-onset dementia with prominent frontal features. Two of them evolved to akinetic mutism. Disease presentation showed marked phenotypic variation with the onset ranging from 26 to 50 years. Myoclonic epilepsy in one of the sibs was suggestive for KD type A, while epilepsy was not present in the other sibs who presented with clinical features of KD type B. In a Belgian cohort of unrelated patients with FTD, the same heterozygous p.Arg245His mutation was identified in 2 patients who shared a common haplotype. Conclusions: A homozygous CTSF mutation was identified in a recessive ANCL pedigree. In contrast to the previous associations of CTSF with KD type B, our findings suggest that CTSF genetic testing should also be considered in patients with KD type A as well as in early-onset dementia with prominent frontal lobe and motor symptoms. PMID:27668283

  10. Serum calprotectin--a promising diagnostic marker for adult-onset Still's disease.

    PubMed

    Guo, Qian; Zha, Xicao; Li, Chun; Jia, Yuan; Zhu, Lei; Guo, Jianping; Su, Yin

    2016-01-01

    Calprotectin is a calcium-binding cytosolic protein, mainly expressed in immune cells, such as neutrophils, monocytes, and macrophages. Our study aimed to evaluate the diagnostic value of calprotectin for adult-onset Still's disease (AOSD), by comparing serum calprotectin concentrations in patients with AOSD (n = 46), rheumatoid arthritis (RA, n = 34), primary Sjögren syndrome (pSS, n = 40), systemic lupus erythematosus (SLE, n = 39), osteoarthritis (OA, n = 20), and healthy controls (HCs, n = 49). Calprotectin concentrations were significantly higher in patients with AOSD (55.26 ± 18.00 ng/ml), compared to patients with RA (39.17 ± 18.90 ng/ml), pSS (35.31 ± 19.47 ng/ml), SLE (32.21 ± 25.01 ng/ml), OA (19.24 ± 10.67 ng/ml), and HCs (8.46 ± 5.17 ng/ml). All the differences were highly significant (p < 0.001). Using receiver-operating characteristic curve, the cut-off value of calprotectin was defined as 45.488 ng/ml, and its sensitivity and specificity for AOSD diagnosis were 63.0 and 80.1%, respectively. The positive rate of calprotectin was significantly higher in AOSD cases compared to patients with other diseases and healthy controls (p < 0.001). Serum calprotectin was positively correlated with ferritin (r = 0.294, p < 0.05), and concentration of hemoglobin was significantly lower in calprotectin-positive patients compared to negative patients in AOSD (103.49 ± 20.21 g/l vs 115.71 ± 15.59 g/l, t = -2.142, p = 0.038). These findings suggest that serum calprotectin may serve as a promising marker for the diagnosis of AOSD and monitor disease activity to a certain extent.

  11. Trans-Palmitoleic Acid, Metabolic Risk Factors, and New-Onset Diabetes in US Adults

    PubMed Central

    Mozaffarian, Dariush; Cao, Haiming; King, Irena B.; Lemaitre, Rozenn N.; Song, Xiaoling; Siscovick, David S.; Hotamisligil, Gökhan S.

    2011-01-01

    Background Palmitoleic acid (cis-16:1n-7), produced by endogenous fat synthesis, has been linked to both beneficial and deleterious metabolic effects, potentially confounded by diverse determinants and tissue sources of endogenous production. Trans-palmitoleate (trans-16:1n-7) represents a distinctly exogenous source of 16:1n-7, unconfounded by endogenous synthesis or its determinants, that may be uniquely informative. Objective We investigated whether circulating trans-palmitoleate was independently related to lower metabolic risk and incident type2 diabetes. Design Prospective cohort study (1992–2006). Setting Four US communities. Patients 3,736 adults in the Cardiovascular Health Study. Measurements Plasma phospholipid fatty acids, anthropometry, blood lipids, inflammatory markers, and glucose-insulin levels were measured at baseline in 1992; and diet, 3 years earlier. In multivariable-adjusted models, we investigated how demographic, clinical, and lifestyle factors independently related to trans-palmitoleate; how trans-palmitoleate related to major metabolic risk factors; and how trans-palmitoleate related to new-onset diabetes (304 incident cases). We validated findings for metabolic risk factors in an independent cohort of 327 women. Results In multivariable-analyses, whole-fat dairy consumption was most strongly associated with higher trans-palmitoleate. Higher trans-palmitoleate was associated with slightly lower adiposity and, independently, higher high-density-lipoprotein(HDL)-cholesterol (across quintiles: +1.9%, P=0.04), lower triglycerides (−19.0%, P<0.001), lower total:HDL-cholesterol (−4.7%, P<0.001), lower C-reactive protein (−13.8%, P=0.05), and lower insulin resistance (−16.7%, P<0.001). Trans-palmitoleate was associated with substantially lower incidence of diabetes, with multivariable-hazard-ratios=0.41 (95%CI=0.27–0.64) and 0.38 (95%CI=0.24–0.62) in quintile-4 and quintile-5, versus quintile-1 (P-trend<0.001). Findings were

  12. Occupational exposures and uncontrolled adult-onset asthma in the European Community Respiratory Health Survey II.

    PubMed

    Le Moual, Nicole; Carsin, Anne-Elie; Siroux, Valérie; Radon, Katja; Norback, Dan; Torén, Kjell; Olivieri, Mario; Urrutia, Isabel; Cazzoletti, Lucia; Jacquemin, Bénédicte; Benke, Geza; Kromhout, Hans; Mirabelli, Maria C; Mehta, Amar J; Schlünssen, Vivi; Sigsgaard, Torben; Blanc, Paul D; Kogevinas, Manolis; Antó, Josep M; Zock, Jan-Paul

    2014-02-01

    Occupational exposure is a well-recognised modifiable risk factor for asthma, but the relationship between occupational exposure and asthma control has not been studied. We aimed to study this association among working-age adults from the European Community Respiratory Health Survey (ECRHS). Data were available for 7077 participants (mean age 43 years, 45% never-smokers, 5867 without asthma and 1210 with current asthma). Associations between occupational exposure to specific asthmagens and asthma control status (33% with uncontrolled asthma, based on the Global Initiative for Asthma guidelines) were evaluated using logistic and multinomial regressions, adjusted for age, sex and smoking status, with study areas included as a random effect. Statistically significant positive associations were observed between uncontrolled adult-onset asthma and both past 12-month and 10-year exposure to any occupational asthmagens (OR (95% CI) 1.6 (1.0-2.40) and 1.7 (1.2-2.5), respectively); high (1.7 (1.0-2.8) and 1.9 (1.3-2.9), respectively) and low (1.6 (1.0-2.7) and 1.8 (1.2-2.7), respectively) molecular weight agents; and cleaning agents (2.0 (1.1-3.6) and 2.3 (1.4-3.6), respectively), with stronger associations for long-term exposures. These associations were mainly explained by the exacerbation domain of asthma control and no associations were observed between asthmagens and partly controlled asthma. These findings suggest that occupational exposure to asthmagens is associated with uncontrolled adult-onset asthma. Occupational risk factors should be quickly identified to prevent uncontrolled asthma.

  13. When uncommon and common coalesce: adult onset Still's disease associated with breast augmentation as part of autoimmune syndrome induced by adjuvants (ASIA).

    PubMed

    Dagan, A; Kogan, M; Shoenfeld, Y; Segal, G

    2016-06-01

    Adult onset Still's disease (AOSD) is an uncommon, multisystemic, auto-inflammatory disorder, while breast augmentation is a very common cosmetic procedure. We describe a case in which these two coalesce, AOSD, manifested with pleuritis and pericarditis, developed after breast mammoplasty. The pathogenetic, missing link, behind the development of AOSD following mammoplasty, is thought to be the autoimmune (auto-inflammatory) syndrome induced by adjuvants (ASIA). We reviewed other cases of AOSD associated with breast mammoplasty published to date and the literature regarding AOSD and ASIA syndrome. The review is followed by a short debate of whether silicone implants should be explanted in similar, future cases.

  14. Adult-onset presentation of a hyperornithinemia-hyperammonemia-homocitrullinuria patient without prior history of neurological complications.

    PubMed

    Tezcan, Kamer; Louie, Kristal T; Qu, Yong; Velasquez, Jorge; Zaldivar, Frank; Rioseco-Camacho, Natalia; Camacho, José Angel

    2012-01-01

    The Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome is a disorder of the urea cycle and ornithine degradation pathway caused by mutations in the mitochondrial ornithine transporter, ORNT1 (SLC25A15). In general, the majority of patients with HHH syndrome come to medical attention during infancy or early school years with symptoms such as learning disabilities, changes in cognitive development, spasticity, or liver dysfunction. In this report, we describe a 35-year-old male of Indian descent who was diagnosed with HHH syndrome after he presented to the emergency room with gastroenteritis, disorientation, and slurred speech. Molecular analysis revealed that this patient was heterozygous for two ORNT1 mutations, p.[Gly220Arg(+)Arg275X] (c.[658G>A(+)823C>T]) that had been previously reported in homozygous probands who presented during the first year of life. Cellular studies revealed that the ORNT1 p.Gly220Arg mutation was nonfunctional but targeted to the mitochondria. Given that this patient was a successful college graduate on a vegetarian diet without a prior history of learning or neurological impairment, additional factors such as gene redundancy, environmental, and epigenetic factors may have contributed to the delay in onset of presentation and lack of any previous symptoms. To the best of our knowledge, this is the first reported case of an adult-onset HHH syndrome presentation without a prior history of neurological or cognitive deficiency.

  15. Case Studies in Australian Adult Education.

    ERIC Educational Resources Information Center

    Clark, Ralph J., Ed.; Rooth, S. John, Ed.

    This publication contains the following 24 case studies of adult education in Australia: "NSW Department of Agriculture Home Study Programme" (O'Neill); "Self-Help Adult Education: The University of the Third Age at the Brisbane CAE" (Swindell); "Marriage Enrichment Programme" (D. Kerr, C. Kerr); "Carringbush…

  16. Risk Factors for Early-Onset and Very-Early-Onset Pancreatic Adenocarcinoma: A Pancreatic Cancer Case-Control Consortium (PanC4) Analysis

    PubMed Central

    McWilliams, Robert R; Maisonneuve, Patrick; Bamlet, William R; Petersen, Gloria M; Li, Donghui; Risch, Harvey; Yu, Herbert; Fontham, Elizabeth TH; Luckett, Brian; Bosetti, Cristina; Negri, Eva; La Vecchia, Carlo; Talamini, Renato; Bueno de Mesquita, H Bas; Bracci, Paige; Gallinger, Steven; Neale, Rachel E; Lowenfels, Albert B

    2015-01-01

    Objectives While pancreatic cancer (PC) most often affects older adults, to date, there has been no comprehensive assessment of risk factors among PC patients under age 60. Methods We defined early onset PC (EOPC) and very early onset PC (VEOPC) as diagnosis of PC under ages 60 and 45, respectively. We pooled data from eight case-control studies, including 1,954 patients with EOPC and 3,278 age- and sex-matched controls. Logistic regression analysis was performed to identify associations with EOPC and VEOPC. Results Family history of PC, diabetes mellitus, smoking, obesity, and pancreatitis were associated with EOPC. Alcohol use ≥26 g daily also was associated with increased risk for EOPC (OR 1.49, 95% CI 1.21-1.84), and there appeared to be a dose-and age-dependent effect of alcohol on risk. The point estimate for risk for VEOPC was OR 2.18, (95% CI 1.17-4.09). Conclusion The established risk factors for PC, including smoking, diabetes, family history of PC, and obesity also apply to EOPC. Alcohol intake appeared to have an age-dependent effect; the strongest association was with VEOPC. PMID:26646264

  17. Limited diagnostic value of procalcitonin in early diagnosis of adult onset Still’s disease

    PubMed Central

    Wysocki, Jacek

    2016-01-01

    A 17-year-old female patient was referred to the Infectious Diseases Ward because of fever lasting for 14 days. On admission to the hospital the patient was in a generally good state, without any abnormalities on physical examination. Laboratory investigation revealed elevated inflammatory markers. Diagnostic imaging comprising chest X-ray, abdominal ultrasonography, and echocardiography showed no abnormalities. During the hospitalization, there occurred episodes of fever with skin rash and musculoskeletal pain of the lower limbs. Procalcitonin concentrations continued to increase. C-reactive protein concentrations decreased during therapy, starting from 191 mg/l. On the 23rd day of the disease, edema of the feet, ankles, and knees appeared. On the basis of the clinical picture and after excluding other possible causes of fever, the patient was diagnosed with adult onset Still’s disease. The procalcitonin concentration was normalized after 5 days of steroid therapy. The patient was discharged under ambulatory rheumatologic supervision. PMID:27826176

  18. Limited diagnostic value of procalcitonin in early diagnosis of adult onset Still's disease.

    PubMed

    Gowin, Ewelina; Wysocki, Jacek

    2016-01-01

    A 17-year-old female patient was referred to the Infectious Diseases Ward because of fever lasting for 14 days. On admission to the hospital the patient was in a generally good state, without any abnormalities on physical examination. Laboratory investigation revealed elevated inflammatory markers. Diagnostic imaging comprising chest X-ray, abdominal ultrasonography, and echocardiography showed no abnormalities. During the hospitalization, there occurred episodes of fever with skin rash and musculoskeletal pain of the lower limbs. Procalcitonin concentrations continued to increase. C-reactive protein concentrations decreased during therapy, starting from 191 mg/l. On the 23(rd) day of the disease, edema of the feet, ankles, and knees appeared. On the basis of the clinical picture and after excluding other possible causes of fever, the patient was diagnosed with adult onset Still's disease. The procalcitonin concentration was normalized after 5 days of steroid therapy. The patient was discharged under ambulatory rheumatologic supervision.

  19. Adult-onset nemaline myopathy in a dog presenting with persistent atrial standstill and primary hypothyroidism.

    PubMed

    Nakamura, R K; Russell, N J; Shelton, G D

    2012-06-01

    A nine-year-old neutered female mixed breed dog presented for evaluation following a five-day history of lethargy, inappetence, weakness, abdominal distension and generalised muscle atrophy. Persistent vatrial standstill with a junctional rhythm was identified on electrocardiogram. Echocardiogram identified moderate dilation of all cardiac chambers and mild thickening of the mitral and tricuspid valves. Serology was negative for Neospora caninum and Toxoplasma gondii. Permanent pacemaker implantation was performed in addition to endomyocardial and skeletal muscle biopsies. Cryosections from the biceps femoris muscle showed numerous nemaline rod bodies while endomyocardial biopsies were possibly consistent with end-stage myocarditis. Rod bodies have rarely been reported in the veterinary literature. To the authors' knowledge, this is the first report of adult-onset nemaline rod myopathy and hypothyroidism with concurrent cardiac disease in a dog.

  20. Adult-onset Still’s disease: current challenges and future prospects

    PubMed Central

    Siddiqui, Mariam; Putman, Michael S; Dua, Anisha B

    2016-01-01

    Adult-onset Still’s disease (AOSD) – a multi-systemic inflammatory condition characterized by high fevers, polyarthritis, an evanescent rash, and pharyngitis – has been a challenging condition to diagnose expediently and treat effectively. Questions remain regarding the underlying pathophysiology and etiology of AOSD. Pathognomonic diagnostic tests and reliable biomarkers remain undiscovered. Over the past decade, important progress has been made. Diagnostic criteria employing glycosylated ferritin have improved specificity. More important, novel biologic therapies have offered important clues to AOSD’s underlying pathophysiology. Cytokine-specific biologic therapies have been instrumental in providing more effective treatment for disease refractory to conventional treatment. While IL-1 therapy has demonstrated efficacy in refractory disease, novel therapies targeting IL-6 and IL-18 show great promise and are currently under investigation. PMID:27843366

  1. Hidden in plain sight: macrophage activation syndrome complicating Adult Onset Still's Disease.

    PubMed

    Benitez, Lourdes; Vila, Salvador; Mellado, Robert Hunter

    2010-01-01

    Hemophagocytic Lymphystiocytosis is a rare and fatal complication of rheumatic diseases, particularly Adult Onset Still's Disease (AOSD). It may be precipitated with immunosuppressive drugs and with viral and bacterial infections. A diagnosis depends on a high index of suspicion associated to certain clinical manifestations (fever, rash, Splemomegaly, any cytology blood dyscrasia, hipertrigliceridemia, hiperfibrinogenemia, and others), as well as pathologic evidence of hemophagocitosis from bone marrow biopsy or tissue samples of affected organs. Therapy consists of high dose corticosteroids and immunosuppressive drugs. We present a 42 year old woman with AOSD in remission who developed HLH in spite of receiving therapy with high dose steroids and immunosuppressive drugs. She had 2 negative bone marrow aspirates. Evidence of Hemophagocytosis was detected in both bone marrow biopsies. Timely evaluation and recognition of the signs and symptoms of HLH is crucial for the prompt management and a decrease in the mortality associated with this disease.

  2. Predictive Medicine: Recombinant DNA Technology and Adult-Onset Genetic Disorders

    PubMed Central

    Hayden, Michael

    1988-01-01

    Genetic factors are of great importance in common adult-onset disorders such as atherosclerosis, cancer, and neuro-degenerative diseases. Advances in DNA technology now allow identification of persons at high-risk of developing some of these diseases. This advance is leading to predictive medicine. In some genetic disorders, such as those leading to atherosclerosis and cancer, identification of high-risk individuals allows intervention which alters the natural history of the disorder. In other diseases, for which there is no treatment, such as Huntington's disease, the application of this technology provides information that relieves uncertainty and may affect quality of life, but does not alter the course of the illness. General implementation of predictive testing programs awaits the results of pilot projects, which will demonstrate the needs, appropriate levels of support, and guidelines for delivery of such testing. PMID:21253100

  3. Occasional detection of thymic epithelial tumor 4 years after diagnosis of adult onset Still disease

    PubMed Central

    Lococo, Filippo; Bajocchi, Gianluigi; Caruso, Andrea; Valli, Riccardo; Ricchetti, Tommaso; Sgarbi, Giorgio; Salvarani, Carlo

    2016-01-01

    Abstract Background: Thymoma is a T cell neoplasm arising from the thymic epithelium that due to its immunological role, frequently undercover derangements of immunity such a tumors and autoimmune diseases. Methods: Herein, we report, to the best of our knowledge, the first description of an association between thymoma and adult onset Still disease (AOSD) in a 47-year-old man. The first one was occasionally detected 4 years later the diagnosis of AOSD, and surgically removed via right lateral thoracotomy. Histology confirmed an encapsulated thymic tumor (type AB sec. WHO-classification). Results: The AOSD was particularly resistant to the therapy, requiring a combination of immunosuppressant followed by anti-IL1R, that was the only steroids-sparing treatment capable to induce and maintain the remission. The differential diagnosis was particularly challenging because of the severe myasthenic-like symptoms that, with normal laboratory tests, were initially misinterpreted as fibromyalgia. The pathogenic link of this association could be a thymus escape of autoreactive T lymphocytes causing autoimmunity. Conclusion: Clinicians should be always include the possibility of a thymoma in the differential diagnosis of an unusual new onset of weakness and normal laboratories data, in particular once autoimmune disease is present in the medical history. PMID:27603335

  4. Childhood attachment, childhood sexual abuse, and onset of masturbation among adult sexual offenders.

    PubMed

    Smallbone, Stephen W; McCabe, Billee-Anne

    2003-01-01

    Written autobiographies of 48 incarcerated adult male sexual offenders (22 rapists, 13 intrafamilial child molesters, and 13 extrafamilial child molesters) were used to generate retrospective self-report measures of their childhood maternal and paternal attachment, childhood sexual abuse experiences, and onset of masturbation. Contrary to expectation, the offenders as a combined group more often reported secure than they did insecure childhood maternal and paternal attachment. There were no differences between the three offender subgroups with respect to maternal attachment; however the rapists and the intrafamilial child molesters were more likely to report insecure paternal attachment than were the extrafamilial child molesters. There were no differences between these offender subgroups in the frequency with which childhood sexual abuse was reported. However, offenders with insecure paternal attachment were more likely to report having been sexually abused than were those with secure paternal attachment. Sexually abused offenders in turn reported earlier onset of masturbation than did those who were not sexually abused. These results are consistent with contemporary attachment models linking insecure childhood attachment to childhood sexual abuse, and with traditional conditioning models linking childhood sexual abuse, early masturbation, and sexual offending.

  5. Delayed Onset Muscle Soreness After Inspiratory Threshold Loading in Healthy Adults

    PubMed Central

    Mathur, Sunita; Sheel, A. William; Road, Jeremy D.; Reid, W. Darlene

    2010-01-01

    Purpose: Skeletal muscle damage occurs following high-intensity or unaccustomed exercise; however, it is difficult to monitor damage to the respiratory muscles, particularly in humans. The aim of this study was to use clinical measures to investigate the presence of skeletal muscle damage in the inspiratory muscles. Methods: Ten healthy subjects underwent 60 minutes of voluntary inspiratory threshold loading (ITL) at 70% of maximal inspiratory pressure. Maximal inspiratory and expiratory mouth pressures, delayed onset muscle soreness on a visual analogue scale and plasma creatine kinase were measured prior to ITL, and at repeated time points after ITL (4, 24 and 48 hours post-ITL). Results: Delayed onset muscle soreness was present in all subjects 24 hours following ITL (intensity = 22 ± 6 mm; significantly higher than baseline p = 0.02). Muscle soreness was reported primarily in the anterior neck region, and was correlated to the amount of work done by the inspiratory muscles during ITL (r = 0.72, p = 0.02). However, no significant change was observed in maximal inspiratory or expiratory pressures or creatine kinase. Conclusions: These findings suggest that an intense bout of ITL results in muscle soreness primarily in the accessory muscles of inspiration, however, may be insufficient to cause significant muscle damage in healthy adults. PMID:20467514

  6. Clinically Relevant Cognitive Impairment in Middle-Aged Adults With Childhood-Onset Type 1 Diabetes

    PubMed Central

    Nunley, Karen A.; Ryan, Christopher M.; Jennings, J. Richard; Aizenstein, Howard J.; Zgibor, Janice C.; Costacou, Tina; Boudreau, Robert M.; Miller, Rachel; Orchard, Trevor J.; Saxton, Judith A.

    2015-01-01

    OBJECTIVE The aim of this study was to investigate the presence and correlates of clinically relevant cognitive impairment in middle-aged adults with childhood-onset type 1 diabetes (T1D). RESEARCH DESIGN AND METHODS During 2010–2013, 97 adults diagnosed with T1D and aged <18 years (age and duration 49 ± 7 and 41 ± 6 years, respectively; 51% female) and 138 similarly aged adults without T1D (age 49 ± 7 years; 55% female) completed extensive neuropsychological testing. Biomedical data on participants with T1D were collected periodically since 1986–1988. Cognitive impairment status was based on the number of test scores ≥1.5 SD worse than demographically appropriate published norms: none, mild (only one test), or clinically relevant (two or more tests). RESULTS The prevalence of clinically relevant cognitive impairment was five times higher among participants with than without T1D (28% vs. 5%; P < 0.0001), independent of education, age, or blood pressure. Effect sizes were large (Cohen d 0.6–0.9; P < 0.0001) for psychomotor speed and visuoconstruction tasks and were modest (d 0.3–0.6; P < 0.05) for measures of executive function. Among participants with T1D, prevalent cognitive impairment was related to 14-year average A1c >7.5% (58 mmol/mol) (odds ratio [OR] 3.0; P = 0.009), proliferative retinopathy (OR 2.8; P = 0.01), and distal symmetric polyneuropathy (OR 2.6; P = 0.03) measured 5 years earlier; higher BMI (OR 1.1; P = 0.03); and ankle-brachial index ≥1.3 (OR 4.2; P = 0.01) measured 20 years earlier, independent of education. CONCLUSIONS Clinically relevant cognitive impairment is highly prevalent among these middle-aged adults with childhood-onset T1D. In this aging cohort, chronic hyperglycemia and prevalent microvascular disease were associated with cognitive impairment, relationships shown previously in younger populations with T1D. Two additional potentially modifiable risk factors for T1D-related cognitive impairment, vascular health and BMI

  7. B-cell populations discriminate between pediatric- and adult-onset multiple sclerosis

    PubMed Central

    Schwarz, Alexander; Balint, Bettina; Korporal-Kuhnke, Mirjam; Jarius, Sven; von Engelhardt, Kathrin; Fürwentsches, Alexandra; Bussmann, Cornelia; Ebinger, Friedrich; Haas, Jürgen

    2016-01-01

    Objective: To comparatively assess the B-cell composition in blood and CSF of patients with pediatric-onset multiple sclerosis (pedMS) and adult-onset multiple sclerosis (adMS). Methods: In this cross-sectional study, we obtained blood and CSF samples from 25 patients with pedMS (8–18 years) and 40 patients with adMS (23–65 years) and blood specimens from 66 controls (1–55 years). By using multicolor flow cytometry, we identified naive, transitional, isotype class-switched memory, nonswitched memory, and double-negative memory B-cell subsets as well as plasmablasts (PB) and terminally differentiated plasma cells (PC). Flow cytometric data were compared to concentrations of B-cell-specific cytokines in serum and CSF as determined by ELISA. Results: Frequencies of circulating naive B-cells decreased with higher age in controls but not in patients with multiple sclerosis (MS). B-cell patterns in CSF differed between pedMS and adMS with an acute relapse: in pedMS-derived CSF samples, high frequencies of nonswitched memory B cells and PB were present, whereas class-switched memory B cells and PC dominated in the CSF of patients with adMS. In pedMS, PB were also elevated in the periphery. Accumulation of PB in the CSF correlated with high intrathecal CXCL-13 levels and augmented intrathecal synthesis of immunoglobulin G and immunoglobulin M. Conclusions: We demonstrate distinct changes in intrathecal B-cell homeostasis in patients with pedMS during active disease, which differ from those in adults by an expansion of plasmablasts in blood and CSF and similarly occur in prototypic autoantibody-driven autoimmune disorders. This emphasizes the particular importance of activated B-lymphocyte subsets for disease progression in the earliest clinical stages of MS. PMID:28053999

  8. Early-onset psychoses: comparison of clinical features and adult outcome in 3 diagnostic groups.

    PubMed

    Ledda, Maria Giuseppina; Fratta, Anna Lisa; Pintor, Manuela; Zuddas, Alessandro; Cianchetti, Carlo

    2009-09-01

    A comparison of clinical features and adult outcome in adolescents with three types of psychotic disorders: schizophrenic (SPh), schizoaffective (SA) and bipolar with psychotic features (BPP). Subjects (n = 41) were finally diagnosed (DSM-IV criteria) with SPh (n = 17), SA (n = 11) or BPP (n = 13). Clinical evaluation took place at onset and at a 3-year follow-up in all 41, and at least after 5 years in 36 patients. Symptoms were rated on the basis of the Positive and Negative Syndrome Scale (PANSS), integrating items from the Brief Psychiatric Rating Scale (BPRS) and the Kiddie Schedule for Affective Disorders and Schizophrenia for School-Age Children-Present and Lifetime Version (K-SADS-PL). The Children Global Assessment Scale (C-GAS) and the Global Assessment Scale (GAF) were used to evaluate global functioning. Significant differences in clinical features were found in the three diagnostic groups as regards several parameters, some present on one and not on other rating scales, underscoring the insufficiency of a single scale for accurate analysis of the features of a psychotic disorder. At onset, a comparison using the simple presence/absence of symptoms showed scant differences among groups, while differences emerged if symptom severity was included in the comparison. Functioning at 3- and 5-year follow-ups showed a significantly better outcome in the BPP group and more substantial deterioration, with similar evolution, in the SPh and SA groups. The integration of several rating scales differentiated between diagnostic groups more effectively. The similar adult functioning outcome in the SPh and SA groups showed how difficult it is to clearly separate these two disorders.

  9. Increased Insomnia Symptoms Predict the Onset of Back Pain among Employed Adults

    PubMed Central

    2014-01-01

    Background Back pain is among the most prevalent pain disorders causing chronic disability among adults, and insomnia is a common co-morbidity. However, whether insomnia precedes back pain or vice versa remains unclear. The current study tested the temporal association between insomnia and back pain. Methods A longitudinal design was used to investigate whether changes in insomnia over time predict the onset of back pain and vice versa. The study was conducted on a cohort of active healthy working adults (N = 2,131, 34% women) at three time points (T1, T2, and T3) over a period of 3.7 years (range = 2.2–5.12) years. Logistic regression analysis was used to test whether increased insomnia symptoms from T1 to T2 predicted the onset of new back pain. Ordinary least squares regression was used to test whether the existence of back pain at T2 predicted an increase in insomnia from T2 to T3. Results The results indicated that after controlling for socioeconomic variables, self-reported health, lifestyle behaviors, and anthropometrics, a T1–T2 increase in insomnia symptoms was associated with a 1.40-fold increased risk of back pain at T3 (OR = 1.40; 95% CI = 1.10–1.71). No support was found for reverse causation; i.e., that back pain predicts subsequent increase in insomnia. Conclusions Insomnia appears to be a risk factor in the development of back pain in healthy individuals. However, no evidence of reverse causation was found. PMID:25084165

  10. Adult onset asthma and interaction between genes and active tobacco smoking: The GABRIEL consortium

    PubMed Central

    Postma, D. S.; Moffatt, M. F.; Jarvis, D.; Ramasamy, A.; Wjst, M.; Omenaas, E. R.; Bouzigon, E.; Demenais, F.; Nadif, R.; Siroux, V.; Polonikov, A. V.; Solodilova, M.; Ivanov, V. P.; Curjuric, I.; Imboden, M.; Kumar, A.; Probst-Hensch, N.; Ogorodova, L. M.; Puzyrev, V. P.; Bragina, E. Yu; Freidin, M. B.; Nolte, I. M.; Farrall, A. M.; Cookson, W. O. C. M.; Strachan, D. P.; Koppelman, G. H.; Boezen, H. M.

    2017-01-01

    Background Genome-wide association studies have identified novel genetic associations for asthma, but without taking into account the role of active tobacco smoking. This study aimed to identify novel genes that interact with ever active tobacco smoking in adult onset asthma. Methods We performed a genome-wide interaction analysis in six studies participating in the GABRIEL consortium following two meta-analyses approaches based on 1) the overall interaction effect and 2) the genetic effect in subjects with and without smoking exposure. We performed a discovery meta-analysis including 4,057 subjects of European descent and replicated our findings in an independent cohort (LifeLines Cohort Study), including 12,475 subjects. Results First approach: 50 SNPs were selected based on an overall interaction effect at p<10−4. The most pronounced interaction effect was observed for rs9969775 on chromosome 9 (discovery meta-analysis: ORint = 0.50, p = 7.63*10−5, replication: ORint = 0.65, p = 0.02). Second approach: 35 SNPs were selected based on the overall genetic effect in exposed subjects (p <10−4). The most pronounced genetic effect was observed for rs5011804 on chromosome 12 (discovery meta-analysis ORint = 1.50, p = 1.21*10−4; replication: ORint = 1.40, p = 0.03). Conclusions Using two genome-wide interaction approaches, we identified novel polymorphisms in non-annotated intergenic regions on chromosomes 9 and 12, that showed suggestive evidence for interaction with active tobacco smoking in the onset of adult asthma. PMID:28253294

  11. A case of late-onset segmental neurofibromatosis.

    PubMed

    McLimore, Heather; McCaughey, Cort; Vanness, Erin

    2014-04-01

    Segmental neurofibromatosis (NF5) is a rare variant of neurofibromatosis. To our knowledge, there have been few reports of cases presenting later in life. The recognition of NF5 is important, as there have been reports of paraneoplastic manifestations and transmission to offspring. Here we present the case of a patient who presented with NF5 first appearing in her mid-50s. This case illustrates the subtle nature of NF5, which often leads to misdiagnosis.

  12. A series of 22 patients with adult-onset Still's disease presenting with fever of unknown origin. A difficult diagnosis?

    PubMed

    Baxevanos, Gerasimos; Tzimas, Thomas; Pappas, Georgios; Akritidis, Nikolaos

    2012-01-01

    Adult-onset Still's disease (AOSD) remains a perplexing, difficult to diagnose clinical entity, with clinical characteristics that are often broad and encountered in numerous other clinical entities. This vague clinical presentation is depicted in the commonly used diagnostic criteria, as the ones by Yamaguchi and Fautrel. The authors sought to investigate how diagnostic criteria apply in a series of 22 new cases of AOSD patients presenting with fever of unknown origin (FUO) and diagnosed at the Internal Medicine Department of Hatzikosta General Hospital of Ioannina, Greece. The aims of the study were: (1) to study the incidence of AOSD and (2) to retrospectively apply different classifications to the data of these patients in search of a more efficient way of diagnosing these patients in the future. The annual incidence of AOSD was estimated at two new cases per 10(5). The clinical manifestations of the patients are discussed, with an emphasis on specific manifestations being considered as criteria by Yamaguchi and Fautrel classifications. Four patients exhibited markedly increased serum D: -dimers, a finding of which the potential pathophysiologic implications are discussed. Serum ferritin levels have additive values, both for diagnostic and cost-reduction purposes in cases presenting as FUO; serum ferritin values are not included in any diagnostic set of criteria at present. The finding of high levels of D-dimers in AOSD needs further studies.

  13. Conceptual influences on induction: A case for a late onset.

    PubMed

    Sloutsky, Vladimir M; Sophia Deng, Wei; Fisher, Anna V; Kloos, Heidi

    2015-11-01

    This research examines the mechanism of early induction, the development of induction, and the ways attentional and conceptual factors contribute to induction across development. Different theoretical views offer different answers to these questions. Six experiments with 4- and 5-year-olds, 7-year-olds and adults (N=208) test these competing theories by teaching categories for which category membership and perceptual similarity are in conflict, and varying orthogonally conceptual and attentional factors that may potentially affect inductive inference. The results suggest that early induction is similarity-based; conceptual information plays a negligible role in early induction, but its role increases gradually, with the 7-year-olds being a transitional group. And finally, there is substantial contribution of attention to the development of induction: only adults, but not children, could perform category-based induction without attentional support. Therefore, category-based induction exhibits protracted development, with attentional factors contributing early in development and conceptual factors contributing later in development. These results are discussed in relation to existing theories of development of inductive inference and broader theoretical views on cognitive development.

  14. Genes and Pathways Involved in Adult Onset Disorders Featuring Muscle Mitochondrial DNA Instability

    PubMed Central

    Ahmed, Naghia; Ronchi, Dario; Comi, Giacomo Pietro

    2015-01-01

    Replication and maintenance of mtDNA entirely relies on a set of proteins encoded by the nuclear genome, which include members of the core replicative machinery, proteins involved in the homeostasis of mitochondrial dNTPs pools or deputed to the control of mitochondrial dynamics and morphology. Mutations in their coding genes have been observed in familial and sporadic forms of pediatric and adult-onset clinical phenotypes featuring mtDNA instability. The list of defects involved in these disorders has recently expanded, including mutations in the exo-/endo-nuclease flap-processing proteins MGME1 and DNA2, supporting the notion that an enzymatic DNA repair system actively takes place in mitochondria. The results obtained in the last few years acknowledge the contribution of next-generation sequencing methods in the identification of new disease loci in small groups of patients and even single probands. Although heterogeneous, these genes can be conveniently classified according to the pathway to which they belong. The definition of the molecular and biochemical features of these pathways might be helpful for fundamental knowledge of these disorders, to accelerate genetic diagnosis of patients and the development of rational therapies. In this review, we discuss the molecular findings disclosed in adult patients with muscle pathology hallmarked by mtDNA instability. PMID:26251896

  15. Effects of Aging and Adult-Onset Hearing Loss on Cortical Auditory Regions

    PubMed Central

    Cardin, Velia

    2016-01-01

    Hearing loss is a common feature in human aging. It has been argued that dysfunctions in central processing are important contributing factors to hearing loss during older age. Aging also has well documented consequences for neural structure and function, but it is not clear how these effects interact with those that arise as a consequence of hearing loss. This paper reviews the effects of aging and adult-onset hearing loss in the structure and function of cortical auditory regions. The evidence reviewed suggests that aging and hearing loss result in atrophy of cortical auditory regions and stronger engagement of networks involved in the detection of salient events, adaptive control and re-allocation of attention. These cortical mechanisms are engaged during listening in effortful conditions in normal hearing individuals. Therefore, as a consequence of aging and hearing loss, all listening becomes effortful and cognitive load is constantly high, reducing the amount of available cognitive resources. This constant effortful listening and reduced cognitive spare capacity could be what accelerates cognitive decline in older adults with hearing loss. PMID:27242405

  16. Genes and Pathways Involved in Adult Onset Disorders Featuring Muscle Mitochondrial DNA Instability.

    PubMed

    Ahmed, Naghia; Ronchi, Dario; Comi, Giacomo Pietro

    2015-08-05

    Replication and maintenance of mtDNA entirely relies on a set of proteins encoded by the nuclear genome, which include members of the core replicative machinery, proteins involved in the homeostasis of mitochondrial dNTPs pools or deputed to the control of mitochondrial dynamics and morphology. Mutations in their coding genes have been observed in familial and sporadic forms of pediatric and adult-onset clinical phenotypes featuring mtDNA instability. The list of defects involved in these disorders has recently expanded, including mutations in the exo-/endo-nuclease flap-processing proteins MGME1 and DNA2, supporting the notion that an enzymatic DNA repair system actively takes place in mitochondria. The results obtained in the last few years acknowledge the contribution of next-generation sequencing methods in the identification of new disease loci in small groups of patients and even single probands. Although heterogeneous, these genes can be conveniently classified according to the pathway to which they belong. The definition of the molecular and biochemical features of these pathways might be helpful for fundamental knowledge of these disorders, to accelerate genetic diagnosis of patients and the development of rational therapies. In this review, we discuss the molecular findings disclosed in adult patients with muscle pathology hallmarked by mtDNA instability.

  17. No Association Between Time of Onset of Hearing Loss (Childhood Versus Adulthood) and Self-Reported Hearing Handicap in Adults

    PubMed Central

    Tambs, Kristian; Engdahl, Bo

    2015-01-01

    Purpose This study examined the association between time of onset of hearing loss (childhood vs. adulthood) and self-reported hearing handicap in adults. Methods This is a population-based cohort study of 2,024 adults (mean = 48 years) with hearing loss (binaural pure-tone average 0.5–4 kHz ≥ 20 dB HL) who completed a hearing handicap questionnaire. In childhood, the same persons (N = 2,024) underwent audiometry in a school investigation (at ages 7, 10, and 13 years), in which 129 were diagnosed with sensorineural hearing loss (binaural pure-tone average 0.5–4 kHz ≥ 20 dB HL), whereas 1,895 had normal hearing thresholds. Results Hearing handicap was measured in adulthood as the sum-score of various speech perception and social impairment items (15 items). The sum-score increased with adult hearing threshold level (p < .001). After adjustment for adult hearing threshold level, hearing aid use, adult age, sex, and socioeconomic status, there was no significant difference in hearing handicap sum-score between the group with childhood-onset hearing loss (n = 129) and the group with adult-onset hearing loss (n = 1,895; p = .882). Conclusion Self-reported hearing handicap in adults increased with hearing threshold level. After adjustment for adult hearing threshold level, this cohort study revealed no significant association between time of onset of hearing loss (childhood vs. adulthood) and self-reported hearing handicap. PMID:26649831

  18. Late-onset Pompe disease with complicated intracranial aneurysm: a Chinese case report

    PubMed Central

    Zhang, Bin; Zhao, Yuying; Liu, Junling; Li, Ling; Shan, Jingli; Zhao, Dandan; Yan, Chuanzhu

    2016-01-01

    Pompe disease is a rare autosomal recessive hereditary disease caused by genetic defects of acid maltase. This disease could be divided into two forms: infantile and late-onset, which mainly affect cardiac, respiratory, and skeletal muscle systems. Late-onset patients mainly show symptoms of skeletal muscle involvement, but recent reports have found that the central nervous system was also affected in some patients. Herein, we report a case of a female, adolescent-onset Pompe patient, who was diagnosed with complicated intracranial aneurysm in adulthood. PMID:27099502

  19. Rearranged Anaplastic Lymphoma Kinase (ALK) Gene in Adult-Onset Papillary Thyroid Cancer Amongst Atomic Bomb Survivors

    PubMed Central

    Mukai, Mayumi; Takahashi, Keiko; Hayashi, Yuzo; Nakachi, Kei; Kusunoki, Yoichiro

    2012-01-01

    rearrangements, being observed in 6 of 10 PTC cases with ALK rearrangements versus 2 of 15 cases with no ALK rearrangements. The six radiation-exposed cases of PTC harboring both ALK rearrangements and solid/trabecular-like architecture were associated with higher radiation doses and younger ages at the time of the A-bombing and at diagnosis compared to the other 19 PTC with no detectable gene alterations. Conclusion Our findings suggest that ALK rearrangements are involved in the development of radiation-induced adult-onset PTC. PMID:23050789

  20. Evolution of disease phenotype in adult and pediatric onset Crohn’s disease in a population-based cohort

    PubMed Central

    Lovasz, Barbara Dorottya; Lakatos, Laszlo; Horvath, Agnes; Szita, Istvan; Pandur, Tunde; Mandel, Michael; Vegh, Zsuzsanna; Golovics, Petra Anna; Mester, Gabor; Balogh, Mihaly; Molnar, Csaba; Komaromi, Erzsebet; Kiss, Lajos Sandor; Lakatos, Peter Laszlo

    2013-01-01

    AIM: To investigate the evolution of disease phenotype in adult and pediatric onset Crohn’s disease (CD) populations, diagnosed between 1977 and 2008. METHODS: Data of 506 incident CD patients were analyzed (age at diagnosis: 28.5 years, interquartile range: 22-38 years). Both in- and outpatient records were collected prospectively with a complete clinical follow-up and comprehensively reviewed in the population-based Veszprem province database, which included incident patients diagnosed between January 1, 1977 and December 31, 2008 in adult and pediatric onset CD populations. Disease phenotype according to the Montreal classification and long-term disease course was analysed according to the age at onset in time-dependent univariate and multivariate analysis. RESULTS: Among this population-based cohort, seventy-four (12.8%) pediatric-onset CD patients were identified (diagnosed ≤ 17 years of age). There was no significant difference in the distribution of disease behavior between pediatric (B1: 62%, B2: 15%, B3: 23%) and adult-onset CD patients (B1: 56%, B2: 21%, B3: 23%) at diagnosis, or during follow-up. Overall, the probability of developing complicated disease behaviour was 49.7% and 61.3% in the pediatric and 55.1% and 62.4% in the adult onset patients after 5- and 10-years of follow-up. Similarly, time to change in disease behaviour from non stricturing, non penetrating (B1) to complicated, stricturing or penetrating (B2/B3) disease was not significantly different between pediatric and adult onset CD in a Kaplan-Meier analysis. Calendar year of diagnosis (P = 0.04), ileal location (P < 0.001), perianal disease (P < 0.001), smoking (P = 0.038) and need for steroids (P < 0.001) were associated with presence of, or progression to, complicated disease behavior at diagnosis and during follow-up. A change in disease location was observed in 8.9% of patients and it was associated with smoking status (P = 0.01), but not with age at diagnosis. CONCLUSION: Long

  1. Adult-onset Still's disease presenting as fever of unknown origin in a patient with HIV infection.

    PubMed

    DelVecchio, Sally; Skidmore, Peter

    2008-02-15

    A 43-year-old African American man with known human immunodeficiency virus (HIV) infection was found to have adult-onset Still's disease manifesting as fever of unknown origin. In the era of highly active antiretroviral therapy, HIV-infected patients are preserving their immune status and, thus, must be evaluated in a manner similar to that for the general population.

  2. Cerebral Cell Renewal in Adult Mice Controls the Onset of Obesity

    PubMed Central

    Gouazé, Alexandra; Brenachot, Xavier; Rigault, Caroline; Krezymon, Alice; Rauch, Camille; Nédélec, Emmanuelle; Lemoine, Aleth; Gascuel, Jean; Bauer, Sylvian; Pénicaud, Luc; Benani, Alexandre

    2013-01-01

    The hypothalamus plays a crucial role in the control of the energy balance and also retains neurogenic potential into adulthood. Recent studies have reported the severe alteration of the cell turn-over in the hypothalamus of obese animals and it has been proposed that a neurogenic deficiency in the hypothalamus could be involved in the development of obesity. To explore this possibility, we examined hypothalamic cell renewal during the homeostatic response to dietary fat in mice, i.e., at the onset of diet-induced obesity. We found that switching to high-fat diet (HFD) accelerated cell renewal in the hypothalamus through a local, rapid and transient increase in cell proliferation, peaking three days after introducing the HFD. Blocking HFD-induced cell proliferation by central delivery of an antimitotic drug prevented the food intake normalization observed after HFD introduction and accelerated the onset of obesity. This result showed that HFD-induced dividing brain cells supported an adaptive anorectic function. In addition, we found that the percentage of newly generated neurons adopting a POMC-phenotype in the arcuate nucleus was increased by HFD. This observation suggested that the maturation of neurons in feeding circuits was nutritionally regulated to adjust future energy intake. Taken together, these results showed that adult cerebral cell renewal was remarkably responsive to nutritional conditions. This constituted a physiological trait required to prevent severe weight gain under HFD. Hence this report highlighted the amazing plasticity of feeding circuits and brought new insights into our understanding of the nutritional regulation of the energy balance. PMID:23967273

  3. Early onset autosomal dominant spinocerebellar ataxia with miosis: four cases.

    PubMed

    Timby, Niklas; Stattin, Eva-Lena; Kristiansen, Ingela; Eriksson, Urban; Erikson, Anders

    2008-01-01

    Previously, at least 29 different forms of autosomal dominant spinocerebellar ataxias (SCAs) have been described. We describe a family with four members through three generations with autosomal dominant ataxia in combination with miosis and hyperreflexia. This family's ataxia does not match any of the previously described SCAs and is probably a novel form of SCA. To continue with the search for the genetic background of this disease, more cases are needed.

  4. Case of lupus vulgaris diagnosed 50 years after onset.

    PubMed

    Uttawichai, Pattanawadee; Igarashi, Tsukasa; Kawana, Seiji

    2009-02-01

    Cutaneous tuberculosis is an infrequent form of extrapulmonary tuberculosis, but is a symptom that can lead to diagnosis of tuberculosis. We describe a case of lupus vulgaris in a 79-year-old woman who had a 50-year history of a slowly growing plaque on her right cheek. She visited many hospitals without resolution and the plaque gradually enlarged. Recently, she was misdiagnosed with eczema and prescribed topical steroids that had no effect, and she subsequently visited our outpatient clinic. A diagnosis of lupus vulgaris was made based on histopathology, culture and polymerase chain reaction, and isoniazid, rifampicin and ethambutol were administered as antituberculosis treatment. Although the incidence of cutaneous tuberculosis has decreased significantly in developed countries, knowledge and awareness of the disease are still of importance for proper diagnosis and treatment.

  5. Adult-onset hypogonadism: evaluation and role of testosterone replacement therapy

    PubMed Central

    Davidiuk, Andrew J.

    2016-01-01

    Testosterone deficiency (TD) has become a growing concern in the field of men’s sexual health, with an increasing number of men presenting for evaluation of this condition. Given the increasing demand for testosterone replacement therapy (TRT), a panel of experts met in August of 2015 to discuss the treatment of men who present for evaluation in the setting of low or normal gonadotropin levels and the associated signs and symptoms of hypogonadism. This constellation of factors can be associated with elements of both primary and secondary hypogonadism. Because this syndrome commonly occurs in men who are middle-aged and older, it was termed adult-onset hypogonadism (AOH). AOH can be defined by the following elements: low levels of testosterone, associated signs and symptoms of hypogonadism, and low or normal gonadotropin levels. Although there are significant benefits of TRT for patients with AOH, candidates also need to understand the potential risks. Patients undergoing TRT will need to be monitored regularly because there are potential complications that can develop with long-term use. This review is aimed at providing a deeper understanding of AOH, discussing the benefits and risks of TRT, and outlining each modality of TRT in use for AOH. PMID:28078213

  6. Patient fibroblasts-derived induced neurons demonstrate autonomous neuronal defects in adult-onset Krabbe disease

    PubMed Central

    Choi, Won Jun; Oh, Ki-Wook; Nahm, Minyeop; Xue, Yuanchao; Choi, Jae Hyeok; Choi, Ji Young; Kim, Young-Eun; Chung, Ki Wha; Fu, Xiang-Dong; Ki, Chang-Seok; Kim, Seung Hyun

    2016-01-01

    Krabbe disease (KD) is an autosomal recessive neurodegenerative disorder caused by defective β-galactosylceramidase (GALC), a lysosomal enzyme responsible for cleavage of several key substrates including psychosine. Accumulation of psychosine to the cytotoxic levels in KD patients is thought to cause dysfunctions in myelinating glial cells based on a comprehensive study of demyelination in KD. However, recent evidence suggests myelin-independent neuronal death in the murine model of KD, thus indicating defective GALC in neurons as an autonomous mechanism for neuronal cell death in KD. These observations prompted us to generate induced neurons (iNeurons) from two adult-onset KD patients carrying compound heterozygous mutations (p.[K563*];[L634S]) and (p.[N228_S232delinsTP];[G286D]) to determine the direct contribution of autonomous neuronal toxicity to KD. Here we report that directly converted KD iNeurons showed not only diminished GALC activity and increased psychosine levels, as expected, but also neurite fragmentation and abnormal neuritic branching. The lysosomal-associated membrane proteins 1 (LAMP1) was expressed at higher levels than controls, LAMP1-positive vesicles were significantly enlarged and fragmented, and mitochondrial morphology and its function were altered in KD iNeurons. Strikingly, we demonstrated that psychosine was sufficient to induce neurite defects, mitochondrial fragmentation, and lysosomal alterations in iNeurons derived in healthy individuals, thus establishing the causal effect of the cytotoxic GALC substrate in KD and the autonomous neuronal toxicity in KD pathology. PMID:27780934

  7. A search for the primary abnormality in adult-onset type II citrullinemia

    SciTech Connect

    Kobayashi, Keiko; Shaheen, Nazma; Saheki, Takeyori ); Kumashiro, Ryukichi; Tanikawa, Kyuichi ); O'Brien, W.E.; Beaudet, A.L. )

    1993-11-01

    Deficiency of argininosuccinate synthetase (ASS) causes citrullinemia in human beings. Type II citrullinemia is found in most patients with adult-onset citrullinemia in Japan, and ASS deficiency is found specifically in the liver. Previous studies have shown that the decrease of hepatic ASS activity is caused by a decrease in enzyme protein with normal kinetic properties and that there were no apparent abnormalities in the amount, translational activity, and gross structure of hepatic ASS mRNA. In the present work, the authors show by sequencing analysis that there was no mutation in the ASS mRNA from two patients with type II citrullinemia. The authors also report RFLP analysis of a consanguineous family with type II citrullinemia, by using three DNA polymorphisms located within the ASS gene locus. In spite of having consanguineous parents, the patient was not a homozygous haplotype for the ASS gene. The RFLP analysis of 16 affected patients from consanguineous parents showed that 5 of 16 patients had the heterozygous pattern for one of the three DNA probes and that the frequency of the heterozygous haplotype was not different from the control frequency. These results suggest that the primary defect of type II citrullinemia is not within the ASS gene locus. 29 refs., 1 fig., 3 tabs.

  8. Unique histopathologic findings in a patient with adult-onset Still disease.

    PubMed

    Wolgamot, Greg; Yoo, Jane; Hurst, Stan; Gardner, Greg; Olerud, John; Argenyi, Zsolt

    2007-04-01

    Adult-onset Still disease (AOSD) is an uncommon disorder characterized by fever, polyarthralgia, elevated white blood cell count, and a maculopapular rash, the histologic features of which have not been well-known. A 55-year-old Asian woman presented initially with a "burning" and severely pruritic eruption on her face, hands, and arms, thought clinically to be urticaria. Within 1 month, she began spiking high fevers, developed diffuse joint pain, and had marked elevations of ferritin, C-reactive protein, and erythrocyte sedimentation rate, characteristic of AOSD. The cutaneous eruption became more widespread, involving the trunk, scalp, and remainder of the extremities, with diffuse thickening of the skin with papular and linear hyperpigmentation and accentuation. Biopsies from several locations showed focal hyperkeratosis associated with dyskeratotic keratinocytes with a peculiar, distinctive distribution in the upper epidermis and cornified layers. In addition, increased dermal mucin was present, with minimal fibroblast proliferation and inflammation. This unusual combination of diffuse dermal mucinosis and a unique pattern of dyskeratosis can present a challenge in generating an accurate differential diagnosis, and may represent an unusual response to chronic scratching or be a distinctive histologic manifestation of AOSD.

  9. Clinical onset of celiac disease after duodenal switch: a case report.

    PubMed

    Pané, A; Orois, A; Careaga, M; Saco, A; Ortega, E; Vidal, J; Leyes, P; Amor, A J

    2016-09-01

    To our knowledge, this is the first reported case of clinical onset of celiac disease (CD) following duodenal switch surgery. A 61-year-old obese woman developed severe diarrhea soon after bariatric surgery (BS), which was unresponsive to standard medical treatment. After the most common diarrhea etiologies in the immediate postoperative period have been excluded, serological tests were performed. Final diagnosis was determined by anti-tissue transglutaminase antibody positivity. In light of this case report, we propose that CD should be ruled out in any patient presenting with typical or atypical symptoms after BS, regardless of the latency of onset.

  10. The clinical implications of adult-onset henoch-schonelin purpura

    PubMed Central

    2011-01-01

    Henoch-Schonlein Purpura (HSP) is a small vessel vasculitis mediated by IgA-immune complex deposition. It is characterized by the clinical tetrad of non-thrombocytopenic palpable purpura, abdominal pain, arthritis and renal involvement. Pathologically, it can be considered a form of immune complex-mediated leukocytoclastic vasculitis (LCV) involving the skin and other organs. Though it primarily affects children (over 90% of cases), the occurrence in adults has been rarely reported. Management often involves the use of immunomodulatory or immune-suppressive regimens. PMID:21619657

  11. Correlates of Age Onset of Type 2 Diabetes Among Relatively Young Black and White Adults in a Community

    PubMed Central

    Nguyen, Quoc Manh; Xu, Ji-Hua; Chen, Wei; Srinivasan, Sathanur R.; Berenson, Gerald S.

    2012-01-01

    OBJECTIVE The risk factors for middle-age onset of type 2 diabetes are well known. However, information is scant regarding the age onset of type 2 diabetes and its correlates in community-based black and white relatively young adults. RESEARCH DESIGN AND METHODS This prospective cohort study consisted of normoglycemic (n = 2,459) and type 2 diabetic (n = 144) adults aged 18–50 years who were followed for an average of 16 years. RESULTS The incidence rate of the onset of type 2 diabetes was 1.6, 4.3, 3.9, and 3.4 per 1,000 person-years for age-groups 18–29, 30–39, and 40–50 and total sample, respectively. Incidences of diabetes increased with age by race and sex groups (P for trend ≤0.01); higher in black females versus white females and blacks versus whites in total sample (P < 0.05). In a multivariable Cox model, baseline parental diabetes (hazard ratio [HR] 5.24) and plasma insulin were significantly associated with diabetes incidence at the youngest age (18–29 years); black race, BMI, and glucose at age 30–39 years; female sex, parental diabetes (HR 2.44), BMI, ratio of triglycerides and HDL cholesterol (TG/HDL-C ratio), and glucose at age 40–50 years; and black race, parental diabetes (HR 2.44), BMI, TG/HDL-C ratio, and glucose in whole cohort. Further, patients with diabetes, regardless of age onset, displayed a significantly higher prevalence of maternal history of diabetes at baseline (P < 0.01). CONCLUSIONS In relatively young adults, predictability of baseline cardiometabolic risk factors along with race, sex, and parental history of diabetes for the onset of type 2 diabetes varied by age-group. These findings have implications for early prevention and intervention in relatively young adults. PMID:22399694

  12. Combination Immunosuppressive Therapy Including Rituximab for Epstein-Barr Virus-Associated Hemophagocytic Lymphohistiocytosis in Adult-Onset Still's Disease

    PubMed Central

    Schäfer, Eva Johanna; Jung, Wolfram

    2016-01-01

    Hemophagocytic lymphopcytosis (HLH) is a life-threatening condition. It can occur either as primary form with genetic defects or secondary to other conditions, such as hematological or autoimmune diseases. Certain triggering factors can predispose individuals to the development of HLH. We report the case of a 25-year-old male patient who was diagnosed with HLH in the context of adult-onset Still's disease (AOSD) during a primary infection with Epstein-Barr virus (EBV). During therapy with anakinra and dexamethasone, he was still symptomatic with high-spiking fevers, arthralgia, and sore throat. His laboratory values showed high levels of ferritin and C-reactive protein. His condition improved after the addition of rituximab and cyclosporine to his immunosuppressive regimen with prednisolone and anakinra. This combination therapy led to a sustained clinical and serological remission of his condition. While rituximab has been used successfully for HLH in the context of EBV-associated lymphoma, its use in autoimmune diseases is uncommon. We hypothesize that the development of HLH was triggered by a primary EBV infection and that rituximab led to elimination of EBV-infected B-cells, while cyclosporine ameliorated the cytokine excess. We therefore propose that this combination immunosuppressive therapy might be successfully used in HLH occurring in the context of autoimmune diseases. PMID:28018698

  13. Rituximab Treatment for PR3-ANCA-Positive Membranoproliferative Glomerulonephritis Associated with Adult-Onset Periodic Fever Syndrome

    PubMed Central

    Hamano, Yoshitomo; Yoshizawa, Hiromichi; Sugase, Taro; Miki, Takuya; Ohtani, Naoko; Hanawa, Shiho; Takeshima, Eri; Morishita, Yoshiyuki; Saito, Osamu; Takemoto, Fumi; Muto, Shigeaki; Yumura, Wako; Kusano, Eiji

    2012-01-01

    We report the case of a 36-year-old Japanese woman with nephrotic syndrome due to membranoproliferative glomerulonephritis (MPGN) Type I diagnosed after a 5-year history of periodic fever syndrome (PFS). Hypocomplementemia and elevation of anti-proteinase 3 anti-neutrophil cytoplasmic autoantibody (PR3-ANCA) were observed. HIV, and hepatitis B and C serology were negative. Nephrotic syndrome and periodic fever did not respond to oral steroid and intravenous steroid pulse therapies combined with cyclosporine, dipyridamole, warfarin and losartan. We tried immunotherapy using rituximab, a human-mouse chimeric monoclonal antibody directed against the CD20 antigen on mature B cells. This therapeutic approach led to improvement of renal function and remission of nephrotic syndrome and hypocomplementemia. However, it did not have a beneficial effect on periodic fever. Suspecting adult-onset hereditary PFS, we analyzed her genetic alteration of MEFV and TNFRSF1A genes. A rare genotype in intron 6 of TNFRSF1A was revealed. The etiological relationship between periodic fever and MPGN is discussed. Rituximab is a hopeful choice of induction therapy for refractory MPGN. PMID:23197963

  14. Clinical characteristics and follow-up analysis of adult-onset Still's disease complicated by hemophagocytic lymphohistiocytosis.

    PubMed

    Zhang, Yun; Yang, Yingyun; Bai, Yujia; Yang, Dan; Xiong, Yangyang; Zeng, Xuejun

    2016-05-01

    We evaluated clinical characteristics and prognosis for adult-onset Still's disease (AOSD) complicated by hemophagocytic lymphohistiocytosis (HLH). We retrospectively identified cases of AOSD with (n = 10) and without (n = 305) HLH complications. We reviewed their medical records, completed follow-up through outpatient clinic and telephone interviews, and analyzed their clinical symptoms, signs, laboratory test results, treatments, and prognosis. More AOSD patients with HLH developed hepatomegaly, bleeding, serositis, and neurologic symptoms than those without HLH, and they more commonly presented with leukopenia, thrombocytopenia, severe anemia, severe liver function abnormalities, decreased fibrinogen, elevated immunoglobulin, and bone marrow hemophagocytosis. The ten patients with AOSD complicated by HLH were treated with high-dose steroids or pulse steroid therapy, and eight of them also received cytotoxic drugs, while biological agents showed poor response. Follow-up results indicated that AOSD patients overall had good prognosis, while those with HLH showed worse prognosis, including higher relapse and readmission rates and increased mortality. In patients with AOSD, unexplained decreased blood cells, severe liver dysfunction, and/or hemophagocytosis in the bone marrow should be considered as signs of HLH complication. Patients with AOSD complicated by HLH have worse prognosis and higher relapse rates compared to AOSD patients without HLH complications. Thus, these patients should undergo frequent and careful follow-up.

  15. Adult onset leukodystrophy with neuroaxonal spheroids and pigmented glia: report of a family, historical perspective, and review of the literature.

    PubMed

    Marotti, Jonathan D; Tobias, Sharon; Fratkin, Jonathan D; Powers, James M; Rhodes, C Harker

    2004-06-01

    We present a two-generation family consisting of a father and two daughters, who had an adult-onset leukodystrophy characterized by widespread destruction of cerebral white matter with neuroaxonal spheroids. The mode of inheritance appears to be autosomal dominant. All three patients presented with a variety of motor and cognitive symptoms, including frontal lobe signs, 4-7 years before death. Each followed a chronic course until death at ages 39, 46, and 51. At autopsy, the white matter loss was widespread but most prominent in the cerebrum with descending corticospinal tract degeneration and relative sparing of subcortical U-fibers. Pigmented glial cells were present, most of which appear to be macrophages, but inconstantly Prussian blue-positive. This disease is consistent with published reports of hereditary diffuse leukoencephalopathy with spheroids (HDLS). However, a review of the literature and a personal review of the neuropathology of the original case of the pigmentary type of orthochromatic leukodystrophy (POLD) reveal overlapping clinical and neuropathologic features between these two previously distinct entities, suggesting a common pathogenetic and perhaps etiological relationship between the two.

  16. Retrospective study of 61 patients with adult-onset Still's disease admitted with fever of unknown origin in China.

    PubMed

    Chen, Pei-Dong; Yu, Sheng-Lei; Chen, Shu; Weng, Xin-Hua

    2012-01-01

    Adult-onset Still's disease (AOSD), as a category of connective tissue diseases, has about 5∼9% of fever of unknown origin (FUO) cases. Diagnosis of AOSD was challenging because of its nonspecific characteristics. The present study analyzed clinical manifestations and laboratory findings in a series of patients with AOSD from eastern China. Medical records of 61 patients admitted with FUO and with a discharge diagnosis of AOSD were retrospectively evaluated and analyzed with special focus on clinical manifestations and laboratory findings. Compared with previous reports, most features of our patients had a similar incidence rate. Rash (79%), arthralgia (80%), and sore throat (84%) were the most frequent clinical manifestations in our series. Leukocytosis (80%), elevated ESR (98%) and CRP (100%), negative ANA (90%) and RF (93%), and high ferritin level (94%) were the most sensitive laboratory findings in our patients. AOSD was not a rare reason of FUO in eastern China. Fever, arthralgia, rash, sore throat, leukocytosis, neutrophilia, elevated ESR and CRP, negative ANA and RF, and high ferritin level were the most common clinical features in our series. The lack of highly specific characteristic makes the diagnosis of AOSD difficult compared with other diseases in FUO.

  17. Longitudinal changes in medical complications in adults with pediatric-onset spinal cord injury

    PubMed Central

    Hwang, Miriam; Zebracki, Kathy; Chlan, Kathleen M.; Vogel, Lawrence C.

    2014-01-01

    Objectives To determine longitudinal changes in the occurrence of medical complications in adults with pediatric-onset spinal cord injury (SCI). Design Longitudinal study of long-term outcomes. Setting Community. Participants Individuals who had sustained an SCI before age 19, were 23 years of age or older at initial interview, and followed annually between 1996 and 2011. They were classified into four American Spinal Injury Association (ASIA) Impairment Scale (AIS) severity groups: C1–4 AIS ABC, C5–8 AIS ABC, T1–S5 AIS ABC, AIS D. Outcome measures Generalized estimating equation (GEE) models were formulated to obtain the odds ratio (OR) of having a medical complication over time. Results A total of 1793 interviews were conducted among 226 men and 125 women (86% Caucasian; age at baseline, 26.7 ± 3.6 years; time since injury at baseline, 12.9 ± 5.2 years). Odds of complication occurrence over time varied among severity groups, with increased ORs of severe urinary tract infection (1.05, confidence interval (CI) 1.02–1.09), autonomic dysreflexia (AD) (1.09, CI 1.05–1.14), spasticity (1.06, CI 1.01–1.11), pneumonia/respiratory failure (1.09, CI 1.03–1.16), and hypertension/cardiac disease (1.07, CI 1.01–1.15) in the C1-4 ABC group; AD (1.08, CI 1.04–1.13) and pneumonia/respiratory failure (1.09, CI 1.02–1.16) in the C5–8 ABC group; and hypertension/cardiac disease (1.08, CI 1.02–1.14) in the T1–S5 ABC group. Upper extremity joint pain had increased odds of occurrence in all injury severity groups. Conclusion The significantly increased odds of having medical complications over time warrants awareness of risk factors and implementation of preventive measures to avoid adverse consequences of complications and to maintain independence in individuals with pediatric-onset SCI. PMID:24090490

  18. Prevalence of Mental Health Illness Among Patients with Adult-onset Strabismus

    PubMed Central

    Hassan, Mohamed Basil; Hodge, David O.

    2016-01-01

    Background Children diagnosed with some forms of strabismus were recently found to have an increased risk of developing mental illness by early adulthood. The purpose of this case-controlled study was to determine if adults with non-paralytic forms of strabismus are similarly at an elevated risk for developing mental illness. Methods The medical records of all patients diagnosed as adults (≥ 19 years of age) with convergence insufficiency (CI, n=118), divergence insufficiency (DI, n=80), and small angle hypertropia (HT, n=99) from January 1, 1985, through December 31, 2004, were retrospectively reviewed. Each case was compared with a sex- and birthdate-matched non-strabismic control. The medical records were reviewed for mental health diagnoses, including inpatient and outpatient encounters, psychiatric ER visits, and medication use. Results Mental health disorders were diagnosed in 65 (55.1%) patients with CI compared to 54 (45.8%) controls (p=0.15), in 51 (63.8%) patients with DI compared to 42 (52.5%) controls (p=0.15), and in 63 (63.6%) patients with HT compared to 57 (57.6%) controls (p=0.38). CI patients were not more likely to have mental health disorders than their controls (p=0.15). Mental health hospitalizations (p=0.02), psychiatric medication use (p=0.04), and unspecified anxiety disorders (p=0.03) were higher in DI patients compared to controls. HT patients were found to have more generalized anxiety disorders (p=0.003) than controls. Conclusions Adults with some forms of strabismus (DI and HT) appear to have an increased risk of mental illness and its comorbidities, compared to age- and gender-matched non-strabismic controls. PMID:26559866

  19. Mental health among young adults in prison: the importance of childhood-onset conduct disorder

    PubMed Central

    Anckarsäter, Henrik; Wallinius, Märta; Billstedt, Eva

    2017-01-01

    Background The psychiatric health burden of prisoners is substantial. However, there is a lack of high-quality studies of psychiatric disorders among young adults with a high risk of reoffending. Aims To investigate the lifetime prevalence of psychiatric disorders and use of mental health services among young male violent offenders and the impact of childhood-onset conduct disorder (COCD). Method A nationally representative cohort (n = 270, age 18–25) of male offenders was followed back in medical records and clinically assessed by gold standard methods. Lifetime prevalences are presented together with odds ratios (ORs) as risk estimates in relation to COCD. Results Previous use of psychiatric services among the participants was high but their lifetime psychiatric morbidity was even higher, with 93% meeting criteria for at least one Axis I disorder. The COCD group was overrepresented in most clinical categories and carried five times higher odds (OR = 5.1, 95% CI 2.0–12.8) of a psychotic disorder, three times higher odds (OR = 3.2, 95% CI 1.2–8.5) of a substance use disorder and two times higher odds of a mood disorder (OR = 2.3, 95% CI 1.3–4.0) or anxiety disorder (OR = 2.0, 95% CI 1.1–3.5). Conclusions The mental health burden is substantial among young violent offenders, and COCD is an important indicator of future mental health problems which must be a priority for public health efforts. Declaration of interest None. Copyright and usage © The Royal College of Psychiatrists 2017. This is an open access article distributed under the terms of the Creative Commons Non-Commercial, No Derivatives (CC BY-NC-ND) license. PMID:28357134

  20. Muscle MRI Findings in Childhood/Adult Onset Pompe Disease Correlate with Muscle Function

    PubMed Central

    Figueroa-Bonaparte, Sebastián; Segovia, Sonia; Llauger, Jaume; Belmonte, Izaskun; Pedrosa, Irene; Alejaldre, Aída; Mayos, Mercè; Suárez-Cuartín, Guillermo; Gallardo, Eduard; Illa, Isabel; Díaz-Manera, Jordi

    2016-01-01

    Objectives Enzyme replacement therapy has shown to be effective for childhood/adult onset Pompe disease (AOPD). The discovery of biomarkers useful for monitoring disease progression is one of the priority research topics in Pompe disease. Muscle MRI could be one possible test but the correlation between muscle MRI and muscle strength and function has been only partially addressed so far. Methods We studied 34 AOPD patients using functional scales (Manual Research Council scale, hand held myometry, 6 minutes walking test, timed to up and go test, time to climb up and down 4 steps, time to walk 10 meters and Motor Function Measure 20 Scale), respiratory tests (Forced Vital Capacity seated and lying, Maximun Inspiratory Pressure and Maximum Expiratory Pressure), daily live activities scales (Activlim) and quality of life scales (Short Form-36 and Individualized Neuromuscular Quality of Life questionnaire). We performed a whole body muscle MRI using T1w and 3-point Dixon imaging centered on thighs and lower trunk region. Results T1w whole body muscle MRI showed a homogeneous pattern of muscle involvement that could also be found in pre-symptomatic individuals. We found a strong correlation between muscle strength, muscle functional scales and the degree of muscle fatty replacement in muscle MRI analyzed using T1w and 3-point Dixon imaging studies. Moreover, muscle MRI detected mild degree of fatty replacement in paraspinal muscles in pre-symptomatic patients. Conclusion Based on our findings, we consider that muscle MRI correlates with muscle function in patients with AOPD and could be useful for diagnosis and follow-up in pre-symptomatic and symptomatic patients under treatment. Take home message Muscle MRI correlates with muscle function in patients with AOPD and could be useful to follow-up patients in daily clinic. PMID:27711114

  1. Gelastic epilepsy and dysprosodia in a case of late-onset right frontal seizures.

    PubMed

    Cercy, Steven P; Kuluva, Joshua E

    2009-10-01

    Gelastic epilepsy (GE) is an uncommon type of seizure disorder characterized by stereotyped, unprovoked, inappropriate ictal laughter. GE is most frequently associated with hypothalamic hamartoma, with onset almost invariably occurring during childhood. GE also occurs occasionally with temporal and frontal cortical seizure foci. We describe an unusual case of senescent-onset GE with a right frontal seizure focus. In addition to laughter, dysprosodia was a clinical feature. Clinical and electroencephalographic evidence of seizure activity ceased on levetiracetam, and the patient showed concurrent improvement in cognitive function. We review the evidence for the cerebral representation of laughter and prosody, and discuss issues bearing on the differential diagnosis and management of GE.

  2. Myasthenia gravis mimicking stroke: a case series with sudden onset dysarthria.

    PubMed

    Tremolizzo, Lucio; Giopato, Federico; Piatti, Maria Luisa; Rigamonti, Andrea; Ferrarese, Carlo; Appollonio, Ildebrando

    2015-06-01

    Myasthenia gravis (MG) is an immune-mediated disorder characterized by fluctuating fatigue of skeletal muscles, often involving extrinsic ocular or bulbar districts. Myasthenia gravis in the elderly is an under-recognized condition, sometimes confused with cerebrovascular disease. Here we present a case series of myasthenia patients which onset was characterized by sudden dysarthria, clearly raising this diagnostic dilemma. In the workout of sudden onset isolated dysarthria, MG should be always considered. In fact, even if myasthenia is a rare condition, lacunar stroke only with this clinical presentation is also unusual, and significant risks may arise (e.g., unexpected myasthenic crisis).

  3. Fahr's Disease Presenting with Dementia at Onset: A Case Report and Literature Review

    PubMed Central

    Calabrò, Rocco Salvatore; Spadaro, Letteria; Marra, Angela; Bramanti, Placido

    2014-01-01

    Fahr's disease (FD) is characterized by sporadic or familiar idiopathic calcification of the basal ganglia, dentate nuclei of the cerebellum, and centrum semiovale, mainly presenting with movement disorder, dementia, and behavioral abnormalities. We described a rare case of Fahr's disease presenting at onset only with behavioral and neuropsychological alterations, whose diagnosis was supposed only after a brain CT, which showed extensive bilateral calcifications in the dentate nuclei of the cerebellum and basal ganglia. Since the onset of Fahr's disease may be a dysexecutive syndrome with behavioral abnormalities, the clinical and radiological features are really important to do the appropriate diagnosis. PMID:24803731

  4. Heterogeneous Depression Responses to Chronic Pain Onset among Middle-Aged Adults: A Prospective Study

    PubMed Central

    Zhu, Zhuoying; Galatzer-Levy, Isaac R.; Bonanno, George A.

    2014-01-01

    Studies on depression response to chronic pain are limited by lack of clarification of different forms of response patterns and cross-sectional measures. The current study examined heterogeneous long-term patterns of depression response to chronic pain onset using the mixture modeling technique. Depression symptoms prior to and following pain onset over a course of six years were charted in a nationally representative middle-aged sample. Four distinct depression symptom trajectories emerged. The resilience (72.0%) trajectory describes a pattern of no/minimal depression symptoms prior to and following pain onset. The post-pain depression trajectory (11.4%) describes a pattern of low depression at baseline and increasing symptoms following pain onset. The chronic depression (6.8%) trajectory is characterized by persistently high depression symptoms irrespective of pain onset. The prior depression improved (9.8%) trajectory describes a pattern of high depression at baseline and gradually declining symptoms following pain onset. Self-rated health at both baseline and following pain onset predicted the resilience trajectory. Baseline self-rated health distinguished the post-pain depression and chronic depression trajectories. Individuals in the prior depression improved trajectory were older and had more chronic illnesses at baseline but fewer illnesses following pain onset, compared to those in the resilience or post-pain depression trajectory. PMID:24679514

  5. Mutation screen and association studies for the fatty acid amide hydrolase (FAAH) gene and early onset and adult obesity

    PubMed Central

    2010-01-01

    Background The orexigenic effects of cannabinoids are limited by activation of the endocannabinoid degrading enzyme fatty acid amide hydrolase (FAAH). The aim of this study was to analyse whether FAAH alleles are associated with early and late onset obesity. Methods We initially assessed association of five single nucleotide polymorphisms (SNPs) in FAAH with early onset extreme obesity in up to 521 German obese children and both parents. SNPs with nominal p-values ≤ 0.1 were subsequently analysed in 235 independent German obesity families. SNPs associated with childhood obesity (p-values ≤ 0.05) were further analysed in 8,491 adult individuals of a population-based cohort (KORA) for association with adult obesity. One SNP was further analysed in 985 German obese adults and 588 normal and underweight controls. In parallel, we screened the FAAH coding region for novel sequence variants in 92 extremely obese children using single-stranded-conformation-polymorphism-analysis and denaturing HPLC and assessed the implication of the identified new variants for childhood obesity. Results The trio analysis revealed some evidence for an association of three SNPs in FAAH (rs324420 rs324419 and rs873978) with childhood obesity (two-sided p-values between 0.06 and 0.10). Although analyses of these variants in 235 independent obesity families did not result in statistically significant effects (two-sided p-values between 0.14 and 0.75), the combined analysis of all 603 obesity families supported the idea of an association of two SNPs in FAAH (rs324420 and rs2295632) with early onset extreme obesity (p-values between 0.02 and 0.03). No association was, however, found between these variants and adult obesity. The mutation screen revealed four novel variants, which were not associated with early onset obesity (p > 0.05). Conclusions As we observed some evidence for an association of the FAAH variants rs2295632 rs324420 with early onset but not adult obesity, we conclude that the

  6. Late onset fulminant Wilson's disease: a case report and review of the literature.

    PubMed

    Weitzman, Ella; Pappo, Orit; Weiss, Peretz; Frydman, Moshe; Haviv-Yadid, Yael; Ben Ari, Ziv

    2014-12-14

    Wilson's disease (WD) is an autosomal recessive inherited disorder of hepatic copper metabolism. WD can be present in different clinical conditions, with the most common ones being liver disease and neuropsychiatric disturbances. Most cases present symptoms at < 40 years of age. However, few reports exist in the literature on patients in whom the disease presented beyond this age. In this report, we present a case of late onset fulminant WD in a 58-year-old patient in whom the diagnosis was established clinically, by genetic analysis of the ATP7B gene disclosing rare mutations (G1099S and c.1707+3insT) as well as by high hepatic copper content. We also reviewed the relevant literature. The diagnosis of WD with late onset presentation is easily overlooked. The diagnostic features and the genetic background in patients with late onset WD are not different from those in patients with early onset WD, except for the age. Effective treatments for this disorder that can be fatal are available and will prevent or reverse many manifestations if the disease is discovered early.

  7. Late onset fulminant Wilson’s disease: A case report and review of the literature

    PubMed Central

    Weitzman, Ella; Pappo, Orit; Weiss, Peretz; Frydman, Moshe; Haviv-Yadid, Yael; Ben Ari, Ziv

    2014-01-01

    Wilson’s disease (WD) is an autosomal recessive inherited disorder of hepatic copper metabolism. WD can be present in different clinical conditions, with the most common ones being liver disease and neuropsychiatric disturbances. Most cases present symptoms at < 40 years of age. However, few reports exist in the literature on patients in whom the disease presented beyond this age. In this report, we present a case of late onset fulminant WD in a 58-year-old patient in whom the diagnosis was established clinically, by genetic analysis of the ATP7B gene disclosing rare mutations (G1099S and c.1707+3insT) as well as by high hepatic copper content. We also reviewed the relevant literature. The diagnosis of WD with late onset presentation is easily overlooked. The diagnostic features and the genetic background in patients with late onset WD are not different from those in patients with early onset WD, except for the age. Effective treatments for this disorder that can be fatal are available and will prevent or reverse many manifestations if the disease is discovered early. PMID:25516681

  8. Adult-onset type 1 diabetes patients display decreased IGRP-specific Tr1 cells in blood.

    PubMed

    Chujo, Daisuke; Nguyen, Thien-Son; Foucat, Emile; Blankenship, Derek; Banchereau, Jacques; Nepom, Gerald T; Chaussabel, Damien; Ueno, Hideki

    2015-12-01

    The breakdown of immune tolerance against islet antigens causes type 1 diabetes (T1D). The antigens associated with adult-onset T1D (AT1D) remain largely undefined. It is possible that AT1D patients display a unique type of CD4(+) T cells specific for a certain islet antigen. Here we analyzed the cytokine production profiles of CD4(+) helper T (Th) cells that are specific for three islet antigens; GAD65, preproinsulin, and IGRP in patients with AT1D, juvenile-onset T1D (JT1D), and age-, gender- and human leukocyte antigen (HLA)-matched control adults. While IGRP-specific Th cells in AT1D patients were dominantly Th1 cells, IGRP-specific Th cells in control adults and JT1D patients were dominantly Th2 and T regulatory type 1 (Tr1) cells. Notably, the frequency of IGRP-specific Tr1 cells was significantly lower in AT1D patients than in control adults and JT1D patients. In conclusion, our study suggests that IGRP-specific Th cells play a unique pathogenic role in AT1D.

  9. Early Pathogenesis in the Adult-Onset Neurodegenerative Disease Amyotrophic Lateral Sclerosis

    PubMed Central

    van Zundert, Brigitte; Izaurieta, Pamela; Fritz, Elsa; Alvarez, Francisco J.

    2013-01-01

    Amyotrophic lateral sclerosis (ALS) is a devastating paralytic disorder caused by dysfunction and degeneration of motor neurons starting in adulthood. Most of our knowledge about the pathophysiological mechanisms of ALS comes from transgenic mice models that emulate a subgroup of familial ALS cases (FALS), with mutations in the gene encoding superoxide dismutase (SOD1). In the more than 15 years since these mice were generated, a large number of abnormal cellular mechanisms underlying motor neuron degeneration have been identified, but to date this effort has led to few improvements in therapy, and no cure. Here, we consider that this surfeit of mechanisms is best interpreted by current insights that suggest a very early initiation of pathology in motor neurons, followed by a diversity of secondary cascades and compensatory mechanisms that mask symptoms for decades, until trauma and/or aging overloads their protective function. This view thus posits that adultonset ALS is the consequence of processes initiated during early development. In fact, motor neurons in neonatal mutant SOD mice display important alterations in their intrinsic electrical properties, synaptic inputs and morphology that are accompanied by subtle behavioral abnormalities. We consider evidence that human mutant SOD1 protein in neonatal hSOD1G93A mice instigates motor neuron degeneration by increasing persistent sodium currents and excitability, in turn altering synaptic circuits that control excessive motor neuron firing and leads to excitotoxicity. We also discuss how therapies that are aimed at suppressing abnormal neuronal activity might effectively mitigate or prevent the onset of irreversible neuronal damage in adulthood. PMID:22740507

  10. Striatal Volume Contributes to the Prediction of Onset of Huntington Disease in Incident Cases

    PubMed Central

    Aylward, Elizabeth H.; Liu, Dawei; Nopoulos, Peggy C.; Ross, Christopher A.; Pierson, Ronald K.; Mills, James A.; Long, Jeffrey D.; Paulsen, Jane S.

    2011-01-01

    Background Previous neuroimaging research indicates that brain atrophy in Huntington disease (HD) begins many years before movement abnormalities become severe enough to warrant diagnosis. Most clinical trials being planned for individuals in the prediagnostic stage of HD propose to use delay of disease onset as the primary outcome measure. Although formulae have been developed, based on age and CAG repeat length, to predict when HD motor onset will occur, it would be useful to have additional measures that can improve the accuracy of prediction of disease onset. Methods The current study examined MRI measures of striatum and white matter volume in 85 individuals prospectively followed from pre-HD stage through diagnosable motor onset (“incident cases”) and 85 individuals individually-matched with incident cases on CAG repeat length, sex, and age, who were not diagnosed with HD during the course of the study. Results Volumes of striatum and white matter were significantly smaller in individuals who would be diagnosed 1 to 4 years following the initial MRI scan, compared to those who would remain in the pre-HD stage. Putamen volume was the measure that best distinguished between the two groups. Conclusions Results suggest that MRI volumetric measures may be helpful in selecting individuals for future clinical trials in pre-HD where HD motor onset is the primary outcome measure. In planning for multisite clinical trials in pre-HD, investigators may also want to consider using more objective measures, such as MRI volumes, in addition to onset of diagnosable movement disorder, as major outcome measures. PMID:21907324

  11. Intrathecal antibody production against Epstein-Barr and other neurotropic viruses in pediatric and adult onset multiple sclerosis.

    PubMed

    Pohl, Daniela; Rostasy, Kevin; Jacobi, Christian; Lange, Peter; Nau, Roland; Krone, Bernd; Hanefeld, Folker

    2010-02-01

    Epstein-Barr virus (EBV) has been implicated in the pathogenesis of multiple sclerosis (MS). Recent reports proposed an increased EBV-targeted humoral immune response in MS, which appears to be more pronounced in pediatric patients. However, little is known about the CNS-derived antibody production against EBV in patients with MS. The objective of this study was to assess the frequency and intensity of intrathecal antibody production against EBV as compared to other neurotropic viruses in pediatric and adult onset MS. In cohorts of 43 childhood, 50 adult onset MS patients, 20 children and 12 adults with other CNS disorders, paired CSF and serum samples were studied. Frequency and intensity of intrathecal antibody production against EBV as compared to measles, rubella, varicella zoster (VZV) and herpes simplex virus (HSV) were analyzed by determination of virus-specific CSF-to-serum Antibody Indices (AI). Intrathecally synthesized EBV antibodies were detectable in 26% pediatric and 10% adult onset MS patients, compared to frequencies ranging in both groups from 10 to 60% for the other viruses. Median AIs for EBV were lower than those for all other viruses, with more than twofold higher median AI for measles, rubella and VZV. The EBV-targeted humoral immune response in the CNS is only part of the intrathecal polyspecific antibody production in MS, directed against various neurotropic viruses. Our results do not rule out the possibility that EBV is involved in the pathogenesis of MS by triggering diverse cellular immune mechanisms, but they argue against a direct pathogenic role of EBV-targeted humoral immune response within the CNS.

  12. Obesity-related abnormalities couple environmental triggers with genetic susceptibility in adult-onset T1D.

    PubMed

    Nguyen, K Hoa; Ande, Sudharsana R; Mishra, Suresh

    2016-01-29

    The incidence of adult-onset T1D in low-risk non-HLA type has increased several folds, whereas the contemporaneous incidence in high-risk HLA-type remains stable. Various factors behind this selective increase in T1D in young adults remain unclear. Obesity and its associated abnormalities appear to be an important determinant; however, the underlying mechanism involved is not understood. Recently, we have developed two novel transgenic obese mice models, Mito-Ob and m-Mito-Ob, by expressing a pleiotropic protein prohibitin (PHB) and a phospho mutant form of PHB (Y114F-PHB or m-PHB) from the aP2 gene promoter, respectively. Both mice models develop obesity in a sex-neutral manner, independent of diet; but obesity associated chronic low-grade inflammation and insulin resistance in a male sex-specific manner. Interestingly, on a high fat diet (HFD) only male m-Mito-Ob mice displayed marked mononuclear cell infiltration in pancreas and developed insulitis that mimic adult-onset T1D. Male Mito-Ob mice that share the metabolic phenotype of male m-Mito-Ob mice, and female m-Mito-Ob that harbor m-PHB similar to male m-Mito-Ob mice, did not develop insulitis. Thus, insulitis development in male m-Mito-Ob in response to HFD requires both, obesity-related abnormalities and m-PHB. Collectively, this data provides a proof-of-concept that obesity-associated abnormalities couple environmental triggers with genetic susceptibility in adult-onset T1D and reveals PHB as a potential susceptibility gene for T1D.

  13. Case of early childhood-onset narcolepsy with cataplexy: comparison with a monozygotic co-twin.

    PubMed

    Ito, Hiromichi; Mori, Kenji; Mori, Tatsuo; Goji, Aya; Kagami, Shoji

    2014-10-01

    We describe here a rare case of early childhood-onset (5 years of age) narcolepsy. This case was interesting because of the ability to compare the patient's symptoms to the condition of her healthy monozygotic co-twin sister. The only environmental difference between the co-twins was head injury, which may be associated with the presence of narcolepsy. The co-twin was extroverted, sociable, reliable, and dexterous. In contrast, the patient could be described as introverted, gentle, honest and persevering, but was weak at conversation, assessment of a situation, memory, planning, activity (she was inactive), a sense of time, understanding of an analog clock, operating efficiency, and physical education (due to obesity). The sisters showed the same degree of appetite and dexterity with their fingers. Narcolepsy is often under-recognized or underdiagnosed, especially when the onset occurs in childhood. When we observe preschoolers with excessive daytime sleepiness, we should consider the possibility of narcolepsy with cataplexy.

  14. Late-onset distal polyneuropathy due to acute organophosphate intoxication case report.

    PubMed

    Genel, Ferah; Arslanoğlu, Sertaç; Uran, Nedret; Doğan, Mustafa; Atlihan, Füsun

    2003-01-01

    Intoxications due to organophosphate insecticides are common in our country, since agriculture has an important place. Besides the well known acute cholinergic toxicity, these compounds may cause late-onset distal polyneuropathy occurring two to three weeks after the acute exposure. An eight-year-old boy and a 13-year-old girl admitted to the hospital with gait disturbances. Beginning 15 and 20 days, respectively, after organophosphate ingestion. Neurologic examination revealed bilateral dropped foot, absent Achilles tendon reflexes and peripheral sensory loss. Electromyography demonstrated motor weighed sensory-motor polyneuropathy with axonal degeneration significant in the distal parts of bilateral lower extremities. Biochemical, radiological findings and magnetic resonance imagings were normal. The two cases were taken under a physiotherapy program. The two cases are presented here since organophosphate poisonings are common in our country, and since late-onset polyneuropathy is not a well known clinical presentation as acute toxicity.

  15. Supplementation with D-serine prevents the onset of cognitive deficits in adult offspring after maternal immune activation

    PubMed Central

    Fujita, Yuko; Ishima, Tamaki; Hashimoto, Kenji

    2016-01-01

    Prenatal maternal infection contributes to the etiology of schizophrenia, with D-serine, an endogenous co-agonist of the N-methyl-D-aspartate (NMDA) receptor, playing a role in the pathophysiology of this disease. We examined whether supplementation with D-serine during juvenile and adolescent stages could prevent the onset of cognitive deficits, prodromal and the core symptoms of schizophrenia in adult offspring after maternal immune activation (MIA). Juvenile offspring exposed prenatally to poly(I:C) showed reduced expression of NMDA receptor subunits in the hippocampus. Supplementing drinking water with D-serine (600 mg/L from P28 to P56) prevented the onset of cognitive deficits in adult offspring after MIA, in a significant manner. This study shows that supplementing offspring with D-serine during juvenile and adolescent stages could prevent the onset of psychosis in adulthood, after MIA. Therefore, early intervention with D-serine may prevent the occurrence of psychosis in high-risk subjects. PMID:27853241

  16. The midlife cognitive profiles of adults at high risk of late-onset Alzheimer's disease: The PREVENT study.

    PubMed

    Ritchie, Karen; Carrière, Isabelle; Su, Li; O'Brien, John T; Lovestone, Simon; Wells, Katie; Ritchie, C W

    2017-03-29

    Although biomarker studies of late-onset Alzheimer's disease suggest pathology to be present decades before diagnosis, little is known about cognitive performance at this stage. A sample of 210 adults (aged 40-59) of whom 103 have a parent diagnosed with dementia (family history subgroup) underwent computerized cognitive testing. ApoE status was determined, and 193 subjects had magnetic resonance imaging. Distance from dementia onset was estimated in relation to age of parental diagnosis, and Cardiovascular Risk Factors, Aging, and Incidence of Dementia Risk Scores were calculated. Lower hippocampal volumes (P = .04) were associated with poorer spatial location recall and higher Dementia Risk Scores with poorer visual recognition (P = .0005), and lower brain and hippocampal volume (P < .0001, P = .04, respectively). Family history subgroup participants closer to dementia onset had lower scores on visual working memory (P = .05), whereas those with an ApoE ε4 allele performed better on form perception (P = .005). Middle-aged adults at risk of dementia show evidence of poorer cognitive performance, principally in visuospatial functions.

  17. Improvement with ongoing Enzyme Replacement Therapy in advanced late-onset Pompe disease: a case study.

    PubMed

    Case, Laura E; Koeberl, Dwight D; Young, Sarah P; Bali, Deeksha; DeArmey, Stephanie M; Mackey, Joanne; Kishnani, Priya S

    2008-12-01

    Benefits of enzyme replacement therapy with Myozyme (alglucosidase alfa), anecdotally reported in late-onset Pompe disease, range from motor and pulmonary improvement in less severely affected patients, to stabilization with minimal improvement in those with advanced disease. We report a case of a 63-year-old patient with significant morbidity who made notable motor and pulmonary function gains after two years on therapy. Thus, improvements in those with advanced disease may be possible after long-term treatment.

  18. A case report of Sheehan's syndrome with acute onset, hyponatremia and severe anemia.

    PubMed

    Anfuso, Salvatore; Patrelli, Tito Silvio; Soncini, Emanuele; Chiodera, Paolo; Fadda, Giovanni Maria; Nardelli, Giovanni Battista

    2009-04-01

    Sheehan's syndrome is a well-known cause of panhypopituitarism secondary to pituitary apoplexy, that generally occurs after an intra- or postpartum bleeding episode characterized by severe hypertension or hemorrhagic shock. The diagnosis can be difficult and is often formulated after some years from the syndrome occurrence. We report the case of a woman with an early diagnosis of early-onset Sheehan's syndrome associated with severe hyponatremia following dystocic childbirth complicated by postpartum hemorrhage.

  19. Alcohol and new onset atrial fibrillation: a case-control study of a current series.

    PubMed Central

    Koskinen, P; Kupari, M; Leinonen, H; Luomanmäki, K

    1987-01-01

    The aetiological role of alcohol in new onset atrial fibrillation was evaluated in a case-control study of 100 consecutive patients aged 21-64 years. Clinical examination, routine diagnostic tests, and echocardiography revealed an underlying disease or other identifiable factor for atrial fibrillation in 65 patients (group 1); 35 patients had idiopathic atrial fibrillation (group 2). The most common diseases associated with atrial fibrillation were ischaemic heart disease (21%), hypertension (13%), and cardiomyopathy (8%). Data on alcohol consumption were obtained by interviewing the patients and their age and sex matched controls on admission. The mean daily alcohol intake of group 2 patients during the week preceding atrial fibrillation was significantly larger than that of either controls or group 1 patients. Compared with controls significantly more patients in both groups with atrial fibrillation had consumed alcohol within two days of the onset of the arrhythmia. Significantly more patients had onset of arrhythmia on Wednesday, Thursday, or Friday than on any other weekday, including patients with high alcohol intake. This study establishes alcohol as an important precipitating factor for new onset atrial fibrillation. PMID:3593617

  20. Limbic encephalitis associated with anti-voltage-gated potassium channel complex antibodies as a cause of adult-onset mesial temporal lobe epilepsy.

    PubMed

    Toyota, Tomoko; Akamatsu, Naoki; Tsuji, Sadatoshi; Nishizawa, Shigeru

    2014-06-01

    Recently, some reports have indicated that limbic encephalitis associated with anti-voltage-gated potassium channel complex antibodies (VGKC-Ab) is a cause of adult-onset mesial temporal lobe epilepsy (MTLE). We report a 53-year-old woman who had her first epileptic seizure at the age of 50 years old. Examination by 3-Tesla brain MRI revealed left hippocampal high signal intensity and swelling on fluid-attenuated inversion recovery (FLAIR) and T2-weighted imaging at 2 months after her first seizure. The patient received intravenous methylprednisolone and carbamazepine 300 mg/day. One month later, MRI revealed improvement of her left hippocampal abnormalities. Thereafter, she had no seizures, however, three years after her first seizure, EEG revealed a seizure pattern in the left temporal region. Brain MRI revealed left hippocampal high signal intensity and brain fluorodeoxyglucose positron emission tomography revealed hypermetabolism. Her serum VGKC-Ab levels were 118 pM(normal < 100 pM). Intravenous methylprednisolone therapy was reinitiated. Two months later, her hippocampal abnormalities had improved and 3 months later her VGKC-Ab levels decreased to 4.4 pM. Remission of the epileptic seizures was also observed. This MTLE in the middle age was considered as limbic encephalitis associated with anti- VGKC-Ab. In cases of unexplained adult-onset MTLE, limbic encephalitis associated with anti-VGKC-Ab, which responds well to immunotherapy, should be considered in the differential diagnosis.

  1. The nightmare of returning home: a case of acute onset nightmare disorder treated by lucid dreaming.

    PubMed

    Abramovitch, H

    1995-01-01

    Nightmare disorder with acute onset involves the sudden appearance of frightening and disruptive dreams. In severe cases it may involve high levels of anxiety, fear of falling asleep, cognitive deficits secondary to sleep deprivation and so may pose a psychiatric emergency. Standard techniques of dream interpretation appear limited in dealing with such a crisis. Lucid dreaming, the experience of dreaming and simultaneously being aware that one is dreaming is an easily learned technique that may provide effective and dramatic relief. The usefulness of lucid dreaming is illustrated by a case history.

  2. Validation of DSM-5 age-of-onset criterion of attention deficit/hyperactivity disorder (ADHD) in adults: Comparison of life quality, functional impairment, and family function.

    PubMed

    Lin, Yu-Ju; Lo, Kuan-Wu; Yang, Li-Kuang; Gau, Susan Shur-Fen

    2015-12-01

    The newly published Diagnostic and Statistical Manual of Mental Disorders, 5th Edition (DSM-5) elevates the threshold of the ADHD age-of-onset criterion from 7 to 12 years. This study evaluated the quality of life and functional impairment of adults with ADHD who had symptoms onset by or after 7 years and examined the mediation effect of family function and anxiety/depression symptoms between ADHD diagnosis and quality of life and functional impairment. We assessed 189 adults with ADHD and 153 non-ADHD controls by psychiatric interview and self-administered reports on the Adult ADHD Quality of Life Scale, Weiss Functional Impairment Rating Scale, Family APGAR, and Adult Self Report Inventory-4. The ADHD group was divided into early-onset ADHD (onset <7 years, n=147) and late-onset ADHD (onset between 7 and 12 years, n=42). The mediation analysis was conducted to verify the mediating factors from ADHD to functional impairment and quality of life. The late-onset ADHD had more severe functional impairment at work and poorer family support than early-onset ADHD while they had comparable impairment at other domains. Less perceived family support and current anxiety/depressive symptoms partially mediated the link between ADHD diagnosis and quality of life/functional impairment both in early- and late-onset ADHD. Our data support decreased quality of life and increased functional impairment in adult ADHD, regardless of age of onset, and these adverse outcomes may be mediated by family support and anxiety/depression at adulthood. Our findings also imply that the new DSM-5 ADHD criteria do not over-include individuals without impairment.

  3. Adult-onset focal expression of mutated human tau in the hippocampus impairs spatial working memory of rats.

    PubMed

    Mustroph, Martina L; King, Michael A; Klein, Ronald L; Ramirez, Julio J

    2012-07-15

    Tauopathy in the hippocampus is one of the earliest cardinal features of Alzheimer's disease (AD), a condition characterized by progressive memory impairments. In fact, density of tau neurofibrillary tangles (NFTs) in the hippocampus strongly correlates with severity of cognitive impairments in AD. In the present study, we employed a somatic cell gene transfer technique to create a rodent model of tauopathy by injecting a recombinant adeno-associated viral vector with a mutated human tau gene (P301L) into the hippocampus of adult rats. The P301L mutation is causal for frontotemporal dementia with parkinsonism-17 (FTDP-17), but it has been used for studying memory effects characteristic of AD in transgenic mice. To ascertain if P301L-induced mnemonic deficits are persistent, animals were tested for 6 months. It was hypothesized that adult-onset, spatially restricted tau expression in the hippocampus would produce progressive spatial working memory deficits on a learned alternation task. Rats injected with the tau vector exhibited persistent impairments on the hippocampal-dependent task beginning at about 6 weeks post-transduction compared to rats injected with a green fluorescent protein vector. Histological analysis of brains for expression of human tau revealed hyperphosphorylated human tau and NFTs in the hippocampus in experimental animals only. Thus, adult-onset, vector-induced tauopathy spatially restricted to the hippocampus progressively impaired spatial working memory in rats. We conclude that the model faithfully reproduces histological and behavioral findings characteristic of dementing tauopathies. The rapid onset of sustained memory impairment establishes a preclinical model particularly suited to the development of potential tauopathy therapeutics.

  4. Protective Connections and Educational Attainment among Young Adults with Childhood-Onset Chronic Illness

    ERIC Educational Resources Information Center

    Maslow, Gary; Haydon, Abigail A.; McRee, Annie-Laurie; Halpern, Carolyn T.

    2012-01-01

    Background: Youth with childhood-onset chronic illness (COCI) are at risk of poor educational attainment. Specific protective factors that promote college graduation in this population have not been studied previously. In this study, we examine the role protective factors during adolescence play in promoting college graduation among young adults…

  5. The History and Timing of Depression Onset as Predictors of Young Adult Self-Esteem

    ERIC Educational Resources Information Center

    Gayman, Mathew D.; Lloyd, Donald A.; Ueno, Koji

    2011-01-01

    Depression often emerges early in the lifecourse and is consistently shown to be associated with poor self-esteem. The 3 main objectives of the current study are to (1) evaluate the association between a history major depression and self-esteem in young adulthood, (2) assess the relationship between timing of depression onset and young adult…

  6. Adult-onset nemaline rods in a patient treated for suspected dermatomyositis: study with two-dimensional electrophoresis

    SciTech Connect

    Danon, M.J.; Giometti, C.S.; Manaligod, J.R.; Perurena, O.H.; Skosey, J.L.

    1981-12-01

    A 65-year-old woman with progressive muscle weakness and a diffuse rash of three years' duration was examined. Muscle tissue was studied with histochemical techniques, phase-contrast microscopy, electron microscopy, and two-dimensional electrophoresis. Histochemical studies showed numerous nemaline rods, with a normal ratio of types I and II fibers. Two-dimensional electrophoresis revealed abnormalities in the myosin light chain and tropomyosin protein patterns when compared with normal and diseased muscle biopsy samples, including those from two patients with adult-onset dermatomyositis.

  7. Ethical and legal dilemmas arising during predictive testing for adult-onset disease: the experience of Huntington disease.

    PubMed Central

    Huggins, M; Bloch, M; Kanani, S; Quarrell, O W; Theilman, J; Hedrick, A; Dickens, B; Lynch, A; Hayden, M

    1990-01-01

    The goal of predictive testing is to modify the risk for currently healthy individuals to develop a genetic disease in the future. Such testing using polymorphic DNA markers has had major application in Huntington disease. The Canadian Collaborative Study of Predictive Testing for Huntington Disease has been guided by major principles of medical ethics, including autonomy, beneficence, confidentiality, and justice. Numerous ethical and legal dilemmas have arisen in this program, challenging these principles and occasionally casting them into conflict. The present report describes these dilemmas and offers our approach to resolving them. These issues will have relevance to predictive-testing programs for other adult-onset disorders. PMID:1971997

  8. [Endogenous persistent hypoglicemia of adult: case report].

    PubMed

    Costa, Raquel R; Maia, Frederico F R; Araújo, Levimar R

    2007-02-01

    Persistent Hyperinsulinemic Endogenous hypoglycemia in adults is, in most cases, due to Insulinoma. Nesidioblastosis, a peculiar functional hyperinsulinemia from hypertrophic beta cells, has been described mainly in newborns. This article describes a 34-year-old patient who presented hyperinsulinemic endogenous hypoglycemia clinical and laboratorial situation (Fasting glycemia: 54 mg/dl / Reference Interval (RI): 60-99 mg/dl; Serum insulin: 70.9 mcU/ml / RI: < 29.1 mcU/ml; e C peptide: 7.1 ng/ml / RI: 1.1-5.0 ng/ml). It was suspected Insulinoma. Because of the lack of typical images in radiologic exams (ultrasonography and computerized tomography) it had been decided to do laparotomy, but it was not found any macroscopic pancreatic tumor. Histological and histochemistry examination of a distal pancreatic segment showed alteration suitable to nesidioblastosis. The patient presented clinical stability during the next two months, however, after that, there was a recurrence of a hypoglycemia crisis, refractory to Octreotide administration. It was done "octreoscan", which showed expanded nesidioblastosis, being done extensive partial pancreatectomy. Octreotide was used again, with a good control of the hypoglycemia crisis. As it is an uncommon diagnosis in an adult, the objective of this article is to describe the diagnostic and therapeutic aspects in cases of hyperinsulinemic endogenous hypoglicemia.

  9. Adult case of partial trisomy 9q

    PubMed Central

    2010-01-01

    Background Complete and partial trisomy 9 is the fourth most common chromosomal disorder. It is also associated with various congenital characteristics affecting the cranio-facial, skeletal, central nervous, gastrointestinal, cardiac and renal systems. Very few cases have been reported in adults. Partial trisomy 9q is also associated with short stature, poor growth and growth hormone deficiency. This is the first reported case of an extensive endocrinology investigation of short stature in trisomy 9q and the outcome of growth hormone treatment. Case Presentation The case involves a 23-year-old female of pure partial trisomy 9q. The case involves a 23-year old female with pure partial trisomy 9q involving a duplication of 9q22.1 to q32, de novo, confirmed by genetic studies using fluorescene in situ hybridization (FISH) method. The diagnosis was at 6 years of age. She did not demonstrate all the congenital morphologies identified with trisomy 9q disorders especially in relation to multi-organ morphologies. There is also a degree of associated intellectual impairment. At prepuberty, she was referred for poor growth and was diagnosed with partial growth hormone deficiency. She responded very well to treatment with growth hormone and is currently living an independent life with some support. Conclusions Trisomy 9q is associated with short stature and failure to thrive. Growth hormone deficiency should be identified in cases of trisomy 9q and treatment offered. This is the first reported case of response to growth hormone replacement in partial trisomy 9. PMID:20158889

  10. The Role of Imported Cases and Favorable Meteorological Conditions in the Onset of Dengue Epidemics

    PubMed Central

    Shang, Chuin-Shee; Wen, Tzai-Hung; Tsai, Kun-Hsien

    2010-01-01

    Background Travelers who acquire dengue infection are often routes for virus transmission to other regions. Nevertheless, the interplay between infected travelers, climate, vectors, and indigenous dengue incidence remains unclear. The role of foreign-origin cases on local dengue epidemics thus has been largely neglected by research. This study investigated the effect of both imported dengue and local meteorological factors on the occurrence of indigenous dengue in Taiwan. Methods and Principal Findings Using logistic and Poisson regression models, we analyzed bi-weekly, laboratory-confirmed dengue cases at their onset dates of illness from 1998 to 2007 to identify correlations between indigenous dengue and imported dengue cases (in the context of local meteorological factors) across different time lags. Our results revealed that the occurrence of indigenous dengue was significantly correlated with temporally-lagged cases of imported dengue (2–14 weeks), higher temperatures (6–14 weeks), and lower relative humidity (6–20 weeks). In addition, imported and indigenous dengue cases had a significant quantitative relationship in the onset of local epidemics. However, this relationship became less significant once indigenous epidemics progressed past the initial stage. Conclusions These findings imply that imported dengue cases are able to initiate indigenous epidemics when appropriate weather conditions are present. Early detection and case management of imported cases through rapid diagnosis may avert large-scale epidemics of dengue/dengue hemorrhagic fever. The deployment of an early-warning surveillance system, with the capacity to integrate meteorological data, will be an invaluable tool for successful prevention and control of dengue, particularly in non-endemic countries. PMID:20689820

  11. Timing of onset of evening activity of adult chinese rose beetles (Coleoptera: Scarabaeidae)

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Adult Chinese rose beetles, Adoretus sinicus (Burmeister) (Coleoptera: Scarabaeidae: Adoretini), present in China, Taiwan, Indonesia, Cambodia, Laos, Singapore, Thailand, Vietnam, the Marianas Islands, the Caroline Islands, and the Hawaiian Islands, are nighttime defoliators that feed on a wide vari...

  12. Inadvertent Skipping of Steroids in Septic Shock Leads to a Diagnosis of Adult Onset Still’s Disease

    PubMed Central

    Sethuraman, Vinoth K; Balasubramanian, Kavitha; Aghoram, Rajeswari

    2017-01-01

    Adult onset Still’s disease is uncommon in middle-aged and elderly individuals and can rarely present with shock; shock is usually associated with disseminated intravascular coagulation, multiorgan dysfunction syndrome or acute respiratory distress syndrome. We report a post-menopausal woman with arthritis, fever, pneumonitis and hypotension which was managed as septic shock. Steroids were inadvertently missed during the second day of hospitalization in the intensive care unit. Persistence of hypotension on inotropes, with normal renal, hepatic and neurological function and recurrence of fever when steroids were skipped, led to suspicion of an inflammatory disorder. A diagnosis of Still’s disease may be entertained in postmenopausal women with polyarthritis, rash, and fever with leukocytosis. Sepsis is mimicked, and multiple antibiotics use is common before the diagnosis of such an entity is made. Shock is rare in adult onset Still’s disease and is not necessarily associated with disseminated intravascular coagulation, acute respiratory distress syndrome, or multiorgan dysfunction. PMID:28191382

  13. GC-MS metabolomic analysis reveals significant alterations in cerebellar metabolic physiology in a mouse model of adult onset hypothyroidism.

    PubMed

    Constantinou, Caterina; Chrysanthopoulos, Panagiotis K; Margarity, Marigoula; Klapa, Maria I

    2011-02-04

    Although adult-onset hypothyroidism (AOH) has been connected to neural activity alterations, including movement, behavioral, and mental dysfunctions, the underlying changes in brain metabolic physiology have not been investigated in a systemic and systematic way. The current knowledge remains fragmented, referring to different experimental setups and recovered from various brain regions. In this study, we developed and applied a gas chromatography-mass spectrometry (GC-MS) metabolomics protocol to obtain a holistic view of the cerebellar metabolic physiology in a Balb/cJ mouse model of prolonged adult-onset hypothyroidism induced by a 64-day treatment with 1% potassium perchlorate in the drinking water of the animals. The high-throughput analysis enabled the correlation between multiple parallel-occurring metabolic phenomena; some have been previously related to AOH, while others implicated new pathways, designating new directions for further research. Specifically, an overall decline in the metabolic activity of the hypothyroid compared to the euthyroid cerebellum was observed, characteristically manifested in energy metabolism, glutamate/glutamine metabolism, osmolytic/antioxidant capacity, and protein/lipid synthesis. These alterations provide strong evidence that the mammalian cerebellum is metabolically responsive to AOH. In light of the cerebellum core functions and its increasingly recognized role in neurocognition, these findings further support the known phenotypic manifestations of AOH into movement and cognitive dysfunctions.

  14. Inframammary Dermatitis: A Case of Localized Late-Onset Darier's Disease

    PubMed Central

    Linder, Dennis; Marinello, Elena; Donisi, Pietro Maria; Salmaso, Roberto; Zattra, Edoardo; Zampetti, Anna

    2016-01-01

    Darier's disease (DD) is an autosomal dominant inherited genodermatosis which is often under- or misdiagnosed. In the majority of cases, the disease manifests in adolescents or young adults with small brownish-yellow, warty, hyperkeratotic papules in multiple seborrheic areas of the body. Localized DD (LDD) is a clinical variant, first described by Kreibich in 1906; only a few cases are reported in the literature. We described the case of an aged woman presenting with LDD, and we review the literature on this subject. PMID:27504089

  15. Internet-Delivered, Family-Based Treatment for Early-Onset OCD: A Preliminary Case Series

    PubMed Central

    Comer, Jonathan S.; Furr, Jami M.; Cooper-Vince, Christine E.; Kerns, Caroline E.; Chan, Priscilla T.; Edson, Aubrey L.; Khanna, Muniya; Franklin, Martin E.; Garcia, Abbe M.; Freeman, Jennifer B.

    2014-01-01

    Given the burdens of early-onset obsessive-compulsive disorder (OCD), limitations in the broad availability and accessibility of evidence-based care for affected youth present serious public health concerns. The growing potential for technological innovations to transform care for the most traditionally remote and underserved families holds enormous promise. This article presents the rationale, key considerations, and a preliminary case series for a promising behavioral telehealth innovation in the evidence-based treatment of early-onset OCD. We developed an Internet-based format for the delivery of family-based treatment for early-onset OCD directly to families in their homes, regardless of their geographic proximity to a mental health facility. Videoteleconferencing (VTC) methods were used to deliver real-time cognitive-behavioral therapy centering on exposure and response prevention to affected families. Participants in the preliminary case series included 5 children between the ages of 4 and 8 (MAge = 6.5) who received the Internet-delivered treatment format. All youth completed a full treatment course, all showed OCD symptom improvements and global severity improvements from pre- to posttreatment, all showed at least partial diagnostic response, and 60% no longer met diagnostic criteria for OCD at posttreatment. No participants got worse, and all mothers characterized the quality of services received as “excellent.” The present work adds to a growing literature supporting the potential of VTC and related computer technology for meaningfully expanding the reach of supported treatments for OCD and lays the foundation for subsequent controlled evaluations to evaluate matters of efficacy and engagement relative to standard in-office evidence-based care. PMID:24295036

  16. Childhood onset vulvar lichen sclerosus does not resolve at puberty: a prospective case series.

    PubMed

    Smith, Saxon D; Fischer, Gayle

    2009-01-01

    When vulvar lichen sclerosus occurs in prepubertal children it is widely believed that it is likely to remit at puberty. However when it occurs in adult women it is accepted that remission is unlikely and that in addition untreated or inadequately treated disease may be complicated by significant disturbance of vulvar architecture and less commonly squamous cell carcinoma. Our database reveals 18 girls who developed lichen sclerosus prior to puberty who are now adolescents or young adults. Twelve have remained under surveillance and the other six patients have been lost to follow-up. We report a prospective series of these 12 patients. Three patients have achieved complete remission sustained for three or more years, all prior to menarche. Nine patients, or 75% of the cohort, who still had active lichen sclerosus at puberty continue to require maintenance therapy after menarche. Of the 12, six have had significant disturbance of vulvar architecture. The concept that prepubertal lichen sclerosus resolves at puberty would appear not to be true in the majority of patients. Even when diagnosed early and treated effectively, childhood onset lichen sclerosus may be complicated by distortion of vulvar architecture.

  17. Does Inflammation Mediate Relationships Between Racial Identity and Onset of Menopause Among US Adults?

    PubMed

    Nowakowski, Alexandra C H; Graves, Katelyn Y

    2016-12-06

    We assess how well differences in ethnoracial background may predict timing of menopause among females in the USA and whether or not inflammatory biomarker levels appear to mediate these overall associations. We use data from the National Social Life, Health, and Aging Project (NSHAP) to model apparent net effects from race on menopausal onset, as well as possible mediating influences from the inflammatory biomarker C-reactive protein (CRP). Using continuous time event history analysis, we assess and frame overall relationships between race and menopausal age. We use structural equation modeling to assess potential mediating effects from CRP and to estimate direct and indirect components of these apparent effects. Our findings suggest that on average, black females experience menopause earlier than their peers of other racial backgrounds, and have higher inflammatory biomarker levels. Both black race and higher CRP have negative and significant direct associations with menopausal age. CRP appears to partially mediate the overall association between black race and earlier menopause. This apparent mediation persists with statistical controls for income, education, and body mass index. Our study concludes with recommendations for future research on racial identity, inflammation, and menopausal onset. We focus our recommendations on intersectional forms of inequality that may affect black females in later life.

  18. Urine metabolomics in neonates with late-onset sepsis in a case-control study

    PubMed Central

    Sarafidis, Kosmas; Chatziioannou, Anastasia Chrysovalantou; Thomaidou, Agathi; Gika, Helen; Mikros, Emmanouel; Benaki, Dimitra; Diamanti, Elisavet; Agakidis, Charalampos; Raikos, Nikolaos; Drossou, Vasiliki; Theodoridis, Georgios

    2017-01-01

    Although late-onset sepsis (LOS) is a major cause of neonatal morbidity and mortality, biomarkers evaluated in LOS lack high diagnostic accuracy. In this prospective, case-control, pilot study, we aimed to determine the metabolic profile of neonates with LOS. Urine samples were collected at the day of initial LOS evaluation, the 3rd and 10th day, thereafter, from 16 septic neonates (9 confirmed and 7 possible LOS cases) and 16 non-septic ones (controls) at respective time points. Urine metabolic profiles were assessed using non-targeted nuclear magnetic resonance spectroscopy and targeted liquid chromatography-tandem mass spectrometry analysis. Multivariate statistical models with data from either analytical approach showed clear separation between the metabolic profiles of septic neonates (both possible and confirmed) and the controls. Metabolic changes appeared to be related to disease progression. Overall, neonates with confirmed or possible LOS exhibited comparable metabolic profiles indicating similar metabolic alternations upon the onset of clinical manifestations. This methodology therefore enabled the discrimination of neonates with LOS from non-septic individuals, providing potential for further research toward the discovery of LOS-related biomarkers. PMID:28374757

  19. Late-onset Sheehan’s syndrome presenting with rhabdomyolysis and hyponatremia: a case report

    PubMed Central

    2013-01-01

    Introduction Hyponatremia associated with rhabdomyolysis is a rare event and a correct diagnostic approach is required to rule out this or other diseases as a primary cause and to avoid other complications resulting from a lack of appropriate treatment. Case presentation A 64-year-old Caucasian woman presented to our facility with worsening fatigue, slurred speech, nausea and vomiting, and high serum levels of creatine kinase and myoglobin together with hyponatremia. Normal arterial blood gas analysis results, normal serum potassium levels, increased urine sodium levels, urine specific gravity of >1003N/m3 and low urine volume suggested an endocrine etiology. Her low cortisol and thyroid hormone serum levels suggested a pituitary disorder. A magnetic resonance imaging study showed atrophy of her pituitary gland. A more detailed study of our patient’s obstetric history revealed a post-partum hemorrhage 30 years earlier. She was diagnosed as having late-onset Sheehan’s syndrome and treated with hormone replacement therapy, which normalized her clinical picture. Conclusions This case report shows that, in hyponatremia-associated rhabdomyolysis, an endocrinological origin should always be considered. This should include Sheehan’s syndrome as it can occur with late onset. PMID:24083446

  20. Effects of early-onset voluntary exercise on adult physical activity and associated phenotypes in mice.

    PubMed

    Acosta, Wendy; Meek, Thomas H; Schutz, Heidi; Dlugosz, Elizabeth M; Vu, Kim T; Garland, Theodore

    2015-10-01

    The purpose of this study was to evaluate the effects of early-life exercise on adult physical activity (wheel running, home-cage activity), body mass, food consumption, and circulating leptin levels in males from four replicate lines of mice selectively bred for high voluntary wheel running (High Runner or HR) and their four non-selected control (C) lines. Half of the mice were given wheel access shortly after weaning for three consecutive weeks. Wheel access was then removed for 52 days, followed by two weeks of adult wheel access for all mice. A blood sample taken prior to adult wheel testing was analyzed for circulating leptin concentration. Early-life wheel access significantly increased adult voluntary exercise on wheels during the first week of the second period of wheel access, for both HR and C mice, and HR ran more than C mice. During this same time period, activity in the home cages was not affected by early-age wheel access, and did not differ statistically between HR and C mice. Throughout the study, all mice with early wheel access had lower body masses than their sedentary counterparts, and HR mice had lower body masses than C mice. With wheel access, HR mice also ate significantly more than C mice. Early-life wheel access increased plasma leptin levels (adjusted statistically for fat-pad mass as a covariate) in C mice, but decreased them in HR mice. At sacrifice, early-life exercise had no statistically significant effects on visceral fat pad, heart (ventricle), liver or spleen masses (all adjusted statistically for variation in body mass). Results support the hypothesis that early-age exercise in mice can have at least transitory positive effects on adult levels of voluntary exercise, in addition to reducing body mass, and may be relevant for the public policy debates concerning the importance of physical education for children.

  1. World Perspective Case Descriptions on Educational Programs for Adults: Norway.

    ERIC Educational Resources Information Center

    Aksjoberg, Tore

    The case description of an adult education program in Norway contained in this document is part of a set that reflects a cooperative effort by adult educators to increase international understanding of various educational programs for adults in their societal context. A face sheet provides this information: name, organization, and address of the…

  2. Sexual Abuse of Older Adults: Aps Cases and Outcomes

    ERIC Educational Resources Information Center

    Teaster, Pamela B.; Roberto, Karen A.

    2004-01-01

    Purpose: The purpose of this study was to develop a profile of sexual abuse cases among adults aged 60 and older receiving attention from Adult Protective Services units in Virginia over a 5-year period. Design and Methods: We used bivariate analysis to characterize older adults (n = 82) experiencing sexual abuse and the circumstances of the…

  3. World Perspective Case Descriptions on Educational Programs for Adults: Portugal.

    ERIC Educational Resources Information Center

    Soares de Melo, Alvaro; Cristovao, Artur F. A. C.

    The case descriptions of two adult education programs in Portual contained in this document are part of a set that reflects a cooperative effort by adult educators to increase international understanding of various educational programs for adults in their societal context. A face sheet for each program provides this information: name,…

  4. World Perspective Case Descriptions on Educational Programs for Adults: Yugoslavia.

    ERIC Educational Resources Information Center

    Rebesko, Branco; And Others

    These eight case descriptions of adult education programs in Yugoslavia are part of a set that reflects a cooperative effort by adult educators to increase international understanding of various educational programs for adults in their societal context. A face sheet for each program provides this information: name, organization, and address of the…

  5. Case Studies in Environmental Adult and Popular Education.

    ERIC Educational Resources Information Center

    Clover, Darlene E., Ed.; Follen, Shirley, Ed.

    Following an introduction by Darlene E. Clover and Rene Karottki, this booklet provides 16 case studies about nonformal environmental adult education: "Environment and Development in Argentina: Innovative Experiences in Adult Learning" (Raul A. Montenegro); "Learning for Environmental Action: Environmental Adult and Popular Education in Canada"…

  6. Biventricular noncompaction cardiomyopathy in a patient presenting with new onset seizure: case report.

    PubMed

    Odiete, Oghenerukevwe; Nagendra, Ramanna; Lawson, Mark A; Okafor, Henry

    2012-01-01

    Ventricular noncompaction (VNC) of the myocardium is a rare genetic cardiomyopathy caused by a disorder during endocardial morphogenesis and could be accompanied by life-threatening complications. The major clinical manifestations of VNC are heart failure, arrhythmias, and embolic events. The left ventricle is the most commonly reported affected site, but a few cases of right ventricular involvement have also been reported. We report a case of biventricular noncompaction cardiomyopathy in a 31-year-old woman presenting with a new onset seizure. On the second day of her telemetry-monitored hospitalization, she suffered a witnessed ventricular fibrillation arrest requiring emergency direct-current cardioversion and induced hypothermia. Transthoracic echocardiography (TTE) showed isolated left ventricular (LV) noncompaction and depressed LV systolic function. Subsequent cardiac magnetic resonance imaging (MRI) revealed both left and right ventricular noncompaction. This unusual presentation highlights the importance of a complete and thorough evaluation of patients even when presenting with apparently noncardiac symptom(s).

  7. ATP1A3 Mutation in Adult Rapid-Onset Ataxia

    PubMed Central

    Sweadner, Kathleen J.; Toro, Camilo; Whitlow, Christopher T.; Snively, Beverly M.; Cook, Jared F.; Ozelius, Laurie J.; Markello, Thomas C.; Brashear, Allison

    2016-01-01

    A 21-year old male presented with ataxia and dysarthria that had appeared over a period of months. Exome sequencing identified a de novo missense variant in ATP1A3, the gene encoding the α3 subunit of Na,K-ATPase. Several lines of evidence suggest that the variant is causative. ATP1A3 mutations can cause rapid-onset dystonia-parkinsonism (RDP) with a similar age and speed of onset, as well as severe diseases of infancy. The patient’s ATP1A3 p.Gly316Ser mutation was validated in the laboratory by the impaired ability of the expressed protein to support the growth of cultured cells. In a crystal structure of Na,K-ATPase, the mutated amino acid was directly apposed to a different amino acid mutated in RDP. Clinical evaluation showed that the patient had many characteristics of RDP, however he had minimal fixed dystonia, a defining symptom of RDP. Successive magnetic resonance imaging (MRI) revealed progressive cerebellar atrophy, explaining the ataxia. The absence of dystonia in the presence of other RDP symptoms corroborates other evidence that the cerebellum contributes importantly to dystonia pathophysiology. We discuss the possibility that a second de novo variant, in ubiquilin 4 (UBQLN4), a ubiquitin pathway component, contributed to the cerebellar neurodegenerative phenotype and differentiated the disease from other manifestations of ATP1A3 mutations. We also show that a homozygous variant in GPRIN1 (G protein-regulated inducer of neurite outgrowth 1) deletes a motif with multiple copies and is unlikely to be causative. PMID:26990090

  8. ATP1A3 Mutation in Adult Rapid-Onset Ataxia.

    PubMed

    Sweadner, Kathleen J; Toro, Camilo; Whitlow, Christopher T; Snively, Beverly M; Cook, Jared F; Ozelius, Laurie J; Markello, Thomas C; Brashear, Allison

    2016-01-01

    A 21-year old male presented with ataxia and dysarthria that had appeared over a period of months. Exome sequencing identified a de novo missense variant in ATP1A3, the gene encoding the α3 subunit of Na,K-ATPase. Several lines of evidence suggest that the variant is causative. ATP1A3 mutations can cause rapid-onset dystonia-parkinsonism (RDP) with a similar age and speed of onset, as well as severe diseases of infancy. The patient's ATP1A3 p.Gly316Ser mutation was validated in the laboratory by the impaired ability of the expressed protein to support the growth of cultured cells. In a crystal structure of Na,K-ATPase, the mutated amino acid was directly apposed to a different amino acid mutated in RDP. Clinical evaluation showed that the patient had many characteristics of RDP, however he had minimal fixed dystonia, a defining symptom of RDP. Successive magnetic resonance imaging (MRI) revealed progressive cerebellar atrophy, explaining the ataxia. The absence of dystonia in the presence of other RDP symptoms corroborates other evidence that the cerebellum contributes importantly to dystonia pathophysiology. We discuss the possibility that a second de novo variant, in ubiquilin 4 (UBQLN4), a ubiquitin pathway component, contributed to the cerebellar neurodegenerative phenotype and differentiated the disease from other manifestations of ATP1A3 mutations. We also show that a homozygous variant in GPRIN1 (G protein-regulated inducer of neurite outgrowth 1) deletes a motif with multiple copies and is unlikely to be causative.

  9. A course on the transition to adult care of patients with childhood-onset chronic illnesses.

    PubMed

    Hagood, James S; Lenker, Claire V; Thrasher, Staci

    2005-04-01

    Children with special health care needs born today have a 90% chance of surviving into adulthood, making their transition to adult systems of care an issue that will affect almost all physicians. However, many adult generalists and specialists are not familiar with the management of chronic diseases that begin in childhood. While the public health system has made transition to appropriate adult care a priority, and many specialty organizations have endorsed this concept, there are no published studies addressing how the concept of transition can be taught to medical students or residents. The authors describe a one-week course for medical students, begun in 2001 at their institution, that addresses the transition for youth with special health care needs, emphasizing patient and family-centered care, cultural competence, and decision making in end-of-life issues. Cystic fibrosis, a common genetic disease with increasing life expectancy, is used as the model for the course. Involvement of interdisciplinary faculty, interviews with youth with special health care needs and family caregivers, readings from academic and nonacademic literature, and group discussions are presented as teaching methods. Key insights based on experience with the course are the need to include the voices of patients and families, the use of faculty from various professions and specialties to model interdisciplinary care, and the insight that problems specific to transition offer into contemporary health care financing. Future studies should measure the impact of such courses on students' knowledge of transition issues, and determine essential information required for physicians in practice.

  10. Invisible Victims: Delayed Onset Depression among Adults with Same-Sex Parents

    PubMed Central

    Sullins, D. Paul

    2016-01-01

    The relationship of elevated depression risk recently discovered among adult persons raised by same-sex parents with possible precipitating conditions in childhood has not previously been acknowledged. This study tests whether such inattention is supportable. Logistic regression based risk ratios were estimated from longitudinal measures of mental health outcomes observed in three waves (at ages 15, 22, and 28) of the US National Survey of Adolescent to Adult Health (n = 15,701). At age 28, the adults raised by same-sex parents were at over twice the risk of depression (CES-D: risk ratio 2.6, 95% CI 1.4–4.6) as persons raised by man-woman parents. These findings should be interpreted with caution. Elevated risk was associated with imbalanced parental closeness and parental child abuse in family of origin; depression, suicidality, and anxiety at age 15; and stigma and obesity. More research and policy attention to potentially problematic conditions for children with same-sex parents appears warranted. PMID:27313882

  11. Congenital and prolonged adult-onset deafness cause distinct degradations in neural ITD coding with bilateral cochlear implants.

    PubMed

    Hancock, Kenneth E; Chung, Yoojin; Delgutte, Bertrand

    2013-06-01

    Bilateral cochlear implant (CI) users perform poorly on tasks involving interaural time differences (ITD), which are critical for sound localization and speech reception in noise by normal-hearing listeners. ITD perception with bilateral CI is influenced by age at onset of deafness and duration of deafness. We previously showed that ITD coding in the auditory midbrain is degraded in congenitally deaf white cats (DWC) compared to acutely deafened cats (ADC) with normal auditory development (Hancock et al., J. Neurosci, 30:14068). To determine the relative importance of early onset of deafness and prolonged duration of deafness for abnormal ITD coding in DWC, we recorded from single units in the inferior colliculus of cats deafened as adults 6 months prior to experimentation (long-term deafened cats, LTDC) and compared neural ITD coding between the three deafness models. The incidence of ITD-sensitive neurons was similar in both groups with normal auditory development (LTDC and ADC), but significantly diminished in DWC. In contrast, both groups that experienced prolonged deafness (LTDC and DWC) had broad distributions of best ITDs around the midline, unlike the more focused distributions biased toward contralateral-leading ITDs present in both ADC and normal-hearing animals. The lack of contralateral bias in LTDC and DWC results in reduced sensitivity to changes in ITD within the natural range. The finding that early onset of deafness more severely degrades neural ITD coding than prolonged duration of deafness argues for the importance of fitting deaf children with sound processors that provide reliable ITD cues at an early age.

  12. Differential onset of infantile deprivation produces distinctive long-term effects in adult ex-laboratory chimpanzees (Pan troglodytes).

    PubMed

    Kalcher, Elfriede; Franz, Cornelia; Crailsheim, Karl; Preuschoft, Signe

    2008-12-01

    Maternal or social deprivation during early infancy inevitably produces social deficiencies in juvenile chimpanzees. Hypothesizing such deficiencies to persist into adulthood (a), and, as in humans, a sensitive period in early infancy for attachment formation (b), we predicted and found behavioral differences in resocialized adult ex-laboratory chimpanzees after about 20 years of solitary confinement depending on their age at onset of deprivation: early deprived (ED; mean: 1.2 years) chimpanzees engaged significantly less in social interactions, spent less time associated, and showed more nonsocial idiosyncrasies than did late deprived (LD; mean: 3.6 years) chimpanzees. In addition to these individual attributes relational qualities, specifically the combination of ED and LD chimpanzees within social groups, have an impact on social recovery. LDs can best exploit their social potential in the company of other LDs and EDs tend to stagnate in their recovery when socialized with other EDs.

  13. Serum Hepcidin Levels in Childhood-Onset Ischemic Stroke: A Case-Control Study.

    PubMed

    Azab, Seham F; Akeel, Nagwa E; Abdalhady, Mohamed A; Elhewala, Ahmed A; Ali, Al Shymaa A; Amin, Ezzat K; Sarhan, Dina T; Almalky, Mohamed A A; Elhindawy, Eman M; Salam, Mohamed M A; Soliman, Attia A; Abdellatif, Sawsan H; Ismail, Sanaa M; Elsamad, Nahla A; Hashem, Mustafa I A; Aziz, Khalid A; Elazouni, Osama M A; Arafat, Manal S

    2016-03-01

    Recently, hepcidin, an antimicrobial-like peptide hormone, has evolved as the master regulator of iron homeostasis. Despite the growing evidence of iron imbalance in childhood-onset ischemic stroke, serum hepcidin level in those patients has not yet been researched. In this study, we aimed to estimate serum (hepcidin) level in acute ischemic stroke (AIS) patients and to investigate whether subcutaneous enoxaparin sodium, which is a low-molecular-weight heparin (LMWH) derivative, could modulate serum hepcidin level in those patients. This was a case-control study included 60 (AIS) cases, and 100 healthy children with comparable age and gender as control group. For all subjects' serum hepcidin, interleukin-6 (IL-6), and soluble transferrin receptor [sTfR]) levels were assessed by (enzyme-linked immunosorbent assay [ELISA] method). Iron parameters including (serum iron, ferritin, transferrin, and total iron binding capacity [TIBC]) were also measured. The patients were subdivided according to treatment with an LMWH derivative into 2 groups and serum hepcidin levels were assessed initially and 1 week after stroke onset for all cases. We found that AIS cases had higher serum iron, ferritin, and IL6 levels compared to the control group (all P < 0.01). Serum hepcidin was significantly higher in AIS cases (median, 36[15-73]ng/mL) compared to the control group (median, 24[10-41]ng/mL; P < 0.01). On the 1st day of AIS diagnosis, serum hepcidin levels were similar in both stroke subgroups (P > 0.05). However, on the 7th day of diagnosis serum hepcidin level decreased significantly in AIS cases treated with LMWH (group 1) (median, 36 vs 21 ng/mL; P < 0.01, respectively). Meanwhile, no significant change was observed in serum hepcidin level in AIS cases not treated with LMWH (group 2) (P > 0.05). Serum hepcidin showed significant positive correlations with serum iron, transferrin saturation, ferritin, and IL6 (r = 0.375, P < 0.05; r = 0.453, P

  14. Mental Health and Risk of Secondary Medical Complications in Adults With Pediatric-Onset Spinal Cord Injury

    PubMed Central

    Zebracki, Kathy

    2014-01-01

    Objective: To investigate mental health problems in adults with pediatric-onset spinal cord injury (SCI) and explore how these problems relate to the risk of negative outcomes over time. Method: The study included 466 adults who sustained an SCI prior to age 19 years and had been injured for at least 1 year. Participants were interviewed on an approximately annual basis using a study-specific questionnaire and standardized measures of depression, anxiety, substance use, and community involvement. Generalized estimating equations were used to assess the risk of negative outcomes across time as a function of depression, anxiety, and substance misuse. Results: Of the participants who reported on each domain of mental health, 26% reported misuse of alcohol or drugs (122/466), 21% reported problems with depression (78/360), and 29% reported problems with anxiety (49/168). Depression was associated with increased odds of pressure ulcers, urinary tract infections, hospitalizations, pain, and smoking and lower levels of economic independence and mobility. Anxiety was associated with increased odds of hospitalization, pain, and smoking. Substance misuse predicted an increased risk of pressure ulcers, pain, and smoking and decreased odds of occupational involvement. When examining the effect of mental health with time, results showed that depression accelerated the risk of urinary tract infections, respiratory complications, and hospitalizations and anxiety and depression accelerated risk for lower occupational independence. Conclusions: The added burden that mental health difficulties pose for medical and psychosocial outcomes highlight the importance of monitoring and treating mental health symptoms in pediatric-onset SCI. PMID:24574817

  15. Promotion of the Transition of Adult Patients with Childhood-Onset Chronic Diseases among Pediatricians in Japan.

    PubMed

    Ishizaki, Yuko; Higashino, Hirohiko; Kaneko, Kazunari

    2016-01-01

    The transition of adult patients with childhood-onset chronic diseases (APCCD) from pediatric to adult health-care systems has recently received worldwide attention. However, Japan is lagging behind European countries and North America as this concept of health-care transition was introduced only 10 years ago. In Japan, before the introduction of this concept, APCCD were referred to as "carryover patients," who were often considered a burden in pediatric practice. In the late 1990s, groups composed of pediatric nephrologists, developmental and behavioral pediatricians, pediatric nurses, and special education teachers researching the quality of life of adult patients with chronic kidney disease began to discuss the physical and psychosocial problems of APCCD. In 2006, a group of pediatricians first introduced the term "transition" in a Japanese journal. By 2010, a group of adolescent nurses had begun a specialized training program aimed at supporting patients during the transitional period. In 2013, the Ministry of Health, Labour and Welfare in Japan convened a research committee, focusing on issues related to social, educational, and medical support for APCCD, and the Japan Pediatric Society established a committee for the health-care transition of APCCD and summarized their statements. Moreover, in 2013, the Tokyo Metropolitan Children's Medical Center initiated ambulatory services for APCCD managed by specialized nurses. The concept of health-care transition has rapidly spread over these past 10 years. The purpose of this article is to describe how this concept of health-care transition has advanced in Japan, such that APCCD now experience a positive pediatric to adult health-care transition.

  16. Promotion of the Transition of Adult Patients with Childhood-Onset Chronic Diseases among Pediatricians in Japan

    PubMed Central

    Ishizaki, Yuko; Higashino, Hirohiko; Kaneko, Kazunari

    2016-01-01

    The transition of adult patients with childhood-onset chronic diseases (APCCD) from pediatric to adult health-care systems has recently received worldwide attention. However, Japan is lagging behind European countries and North America as this concept of health-care transition was introduced only 10 years ago. In Japan, before the introduction of this concept, APCCD were referred to as “carryover patients,” who were often considered a burden in pediatric practice. In the late 1990s, groups composed of pediatric nephrologists, developmental and behavioral pediatricians, pediatric nurses, and special education teachers researching the quality of life of adult patients with chronic kidney disease began to discuss the physical and psychosocial problems of APCCD. In 2006, a group of pediatricians first introduced the term “transition” in a Japanese journal. By 2010, a group of adolescent nurses had begun a specialized training program aimed at supporting patients during the transitional period. In 2013, the Ministry of Health, Labour and Welfare in Japan convened a research committee, focusing on issues related to social, educational, and medical support for APCCD, and the Japan Pediatric Society established a committee for the health-care transition of APCCD and summarized their statements. Moreover, in 2013, the Tokyo Metropolitan Children’s Medical Center initiated ambulatory services for APCCD managed by specialized nurses. The concept of health-care transition has rapidly spread over these past 10 years. The purpose of this article is to describe how this concept of health-care transition has advanced in Japan, such that APCCD now experience a positive pediatric to adult health-care transition. PMID:27803894

  17. A multicentre comparative trial of sodium valproate and carbamazepine in adult onset epilepsy. Adult EPITEG Collaborative Group.

    PubMed Central

    Richens, A; Davidson, D L; Cartlidge, N E; Easter, D J

    1994-01-01

    The long-term efficacy and safety of sodium valproate and carbamazepine in adult outpatients with newly diagnosed primary generalised or partial and secondarily generalised seizures were compared in a randomised, open, multicentre study at 22 neurology outpatient clinics. Patients were randomised to oral sodium valproate (Epilim EC enteric coated 200 mg tablets twice daily, n = 149) or oral carbamazepine (100 mg twice daily increasing to 200 mg twice daily in week 2, n = 151) and followed up for three years. If clinically necessary, dosages were regularly increased until seizures were controlled or toxicity developed. Sodium valproate and carbamazepine controlled both primary generalised and partial seizures equally effectively overall. Significantly more patients on sodium valproate than carbamazepine (126/140 (90%) v 105/141 (75%), p = 0.001) remained on randomised treatment for at least six months. Skin rashes occurred significantly more often in carbamazepine recipients than in sodium valproate recipients (11.2% v 1.7%, p < 0.05) and carbamazepine was associated with a higher withdrawal rate because of adverse events (15% v 5% on sodium valproate) in the first six months of treatment. There was no difference between the drugs in the rate of withdrawal because of poor seizure control at any stage, regardless of seizure type. At the end of the three year trial period, over 70% of the available patients were still on randomised treatment or had recently stopped treatment after achieving full seizure control. Sodium valproate and carbamazepine were both associated with a high degree of overall seizure control regardless of seizure type and both have good long-term tolerability in adult patients with newly diagnosed epilepsy. Recommendations are made for a higher initial dosage regime for sodium valproate in partial seizures. PMID:8006647

  18. Infantile onset spinocerebellar ataxia 2 (SCA2): a clinical report with review of previous cases.

    PubMed

    Singh, Ankur; Faruq, Mohammed; Mukerji, Mitali; Dwivedi, Manish Kumar; Pruthi, Sumit; Kapoor, Seema

    2014-01-01

    Autosomal dominant cerebellar ataxia type I is a heterogeneous group of spinocerebellar ataxias with variable neurologic presentations, with age of onset varying from infancy to adulthood. Autosomal dominant cerebellar ataxia type I is composed mainly of 3 prevalent spinocerebellar ataxia types with different pathogenic loci, specifically spinocerebellar ataxia 1 (6p24-p23), spinocerebellar ataxia 2 (12q24.1), and spinocerebellar ataxia 3 (14q32.1). The shared pathogenic mutational event is the expansion of the CAG repeat that results in polyglutamine extended stretches in the encoded proteins. CAG repeat disorders generally show the phenomenon of anticipation, which is more often associated with paternal transmission. In this report, we describe a patient with infantile-onset spinocerebellar ataxia type 2 (~320 CAG repeat) who inherited the disease from his father (47 CAG repeats). We have summarized the clinical, neuroimaging, electroencephalographic (EEG), and molecular data of previous cases and attempt to highlight the most consistent findings. Our intent is to help treating clinicians to suspect this disorder and to offer timely genetic counseling for a currently potentially untreatable disorder.

  19. Case-control study of severe pre-eclampsia of early onset.

    PubMed

    Moore, M P; Redman, C W

    1983-08-27

    Twenty four women with severe pre-eclampsia diagnosed before 34 weeks' gestation were compared with 48 randomly selected controls matched for age and parity. Subjects were studied in the puerperium using a questionnaire, clinical examination, and review of case records. A history of infertility, headaches (particularly migraine), pre-eclampsia in a previous pregnancy, or a raised serum alpha-fetoprotein concentration at the time of screening for neural tube defect in the index pregnancy were all identified as significant risk factors in the pre-eclamptic women. Maternal age, a history of chronic hypertension or renal disease, or excessive maternal weight were not significantly associated with pre-eclampsia. Almost all the infants of pre-eclamptic women showed retarded growth: 18 were below the 10th centile and only one weighed more than the 25th centile. Four babies died. These observations indicate that pre-eclampsia of early onset may differ from the late onset disease not only in its very high perinatal morbidity and mortality but in its distinctive maternal risk factors.

  20. Late-life Onset Mania After Varenicline Use: A Case Report

    PubMed Central

    AKPINAR, Abdullah; ÖZDAMAR ÜNAL, Gülin; ATAY, İnci Meltem; GÜNDOĞAR, Duru; ÖZÇANKAYA, Ramazan

    2013-01-01

    Late-life onset manic attacks generally occur secondary to general medical conditions or drug use. Varenicline is an α4β2 nicotinic acetylcholine receptor partial agonist, used for the cessation of smoking. In this case report, we present a 67-year-old male patient with a new-onset manic episode following varenicline treatment. The patient’s manic symptoms started on the seventh day of varenicline treatment. His symptoms started on the 7th day of treatment. He was admitted to the psychiatric outpatient clinic since his symptoms did not improve despite discontinuing varenicline treatment. In the initial mental status examination, he scored 35/60 on the Young Mania Rating Scale (YMRS). On the twenty-fifth day of the hospitalization, the patient was discharged since his YMRS score improved (5/60). Varenicline may cause manic episodes in patients with bipolar disorder and in healthy individuals. An increasing number of serious psychiatric disorders are being reported due to varenicline treatment. Mental state examination before and during varenicline treatment seems necessary.

  1. Inflammatory cues acting on the adult intestinal stem cells and the early onset of cancer (Review)

    PubMed Central

    DE LERMA BARBARO, A.; PERLETTI, G.; BONAPACE, I.M.; MONTI, E.

    2014-01-01

    The observation that cancer often arises at sites of chronic inflammation has prompted the idea that carcinogenesis and inflammation are deeply interwoven. In fact, the current literature highlights a role for chronic inflammation in virtually all the steps of carcinogenesis, including tumor initiation, promotion and progression. The aim of the present article is to review the current literature on the involvement of chronic inflammation in the initiation step and in the very early phases of tumorigenesis, in a type of cancer where adult stem cells are assumed to be the cells of origin of neoplasia. Since the gastrointestinal tract is regarded as the best-established model system to address the liaison between chronic inflammation and neoplasia, the focus of this article will be on intestinal cancer. In fact, the anatomy of the intestinal epithelial lining is uniquely suited to study adult stem cells in their niche, and the bowel crypt is an ideal developmental biology system, as proliferation, differentiation and cell migration are all distributed linearly along the long axis of the crypt. Moreover, crypt stem cells are regarded today as the most likely targets of neoplastic transformation in bowel cancer. More specifically, the present review addresses the molecular mechanisms whereby a state of chronic inflammation could trigger the neoplastic process in the intestine, focusing on the generation of inflammatory cues evoking enhanced proliferation in cells not initiated but at risk of neoplastic transformation because of their stemness. Novel experimental approaches, based on triggering an inflammatory stimulus in the neighbourhood of adult intestinal stem cells, are warranted to address some as yet unanswered questions. A possible approach, the targeted transgenesis of Paneth cells, may be aimed at ‘hijacking’ the crypt stem cell niche from a status characterized by the maintenance of homeostasis to local chronic inflammation, with the prospect of initiating

  2. Clinical and immunological aspects and outcome of a Brazilian cohort of 414 patients with systemic lupus erythematosus (SLE): comparison between childhood-onset, adult-onset, and late-onset SLE.

    PubMed

    das Chagas Medeiros, M M; Bezerra, M Campos; Braga, F N Holanda Ferreira; da Justa Feijão, M R Melo; Gois, A C Rodrigues; Rebouças, V C do Rosário; de Carvalho, T M Amorim Zaranza; Carvalho, L N Solon; Ribeiro, Át Mendes

    2016-04-01

    The clinical expression of systemic lupus erythematosus (SLE) is influenced by genetic and environmental factors and therefore varies between ethnicities. Information on the epidemiology of SLE in Brazil is scarce and practically limited to studies conducted in socioeconomically developed regions (South and Southeast). The objective of this study was to describe the clinical and immunological aspects and outcome of a cohort of patients with SLE treated at a university hospital in northeastern Brazil and compare patterns related to age at onset: childhood (cSLE), adult (aSLE), and late (lSLE). A random sample of 414 records (women: 93.5%) were reviewed. The mean age at SLE onset and the mean disease duration were 28.9 ± 10.9 years and 10.2 ± 6.6 years, respectively. Most patients had aSLE (n = 338; 81.6%), followed by cSLE (n = 60; 14.5%) and lSLE (n = 16; 3.9%). The female/male ratio was 6.5:1 in cSLE and 16.8:1 in aSLE; in lSLE, all patients were female (p = 0.05). During follow-up, the cSLE group presented higher rates of nephritis (70% vs. 52.9% vs. 12.5%; p = 0.0001) and leuko/lymphopenia (61.7% vs. 43.8% vs. 56.2%; p = 0.02). No significant differences were found for anti-dsDNA, anti-Sm, and antiphospholipid antibodies. Treatment with immunosuppressants was significantly more common, and higher doses of prednisone were used, in cSLE. The prevalence of cardiovascular diseases were more frequent in lSLE (p = 0.03). No significant differences were found between the three groups with regard to mean damage accrual (SDI), remission, and mortality. Although cSLE presented higher rates of nephritis and leuko/lymphopenia, more frequent use of immunosuppressants and higher prednisone doses than aSLE and lSLE, the three groups did not differ significantly with regard to damage accrual, remission, and mortality.

  3. Distinct Muscle Biopsy Findings in Genetically Defined Adult-Onset Motor Neuron Disorders.

    PubMed

    Jokela, Manu; Huovinen, Sanna; Raheem, Olayinka; Lindfors, Mikaela; Palmio, Johanna; Penttilä, Sini; Udd, Bjarne

    2016-01-01

    The objective of this study was to characterize and compare muscle histopathological findings in 3 different genetic motor neuron disorders. We retrospectively re-assessed muscle biopsy findings in 23 patients with autosomal dominant lower motor neuron disease caused by p.G66V mutation in CHCHD10 (SMAJ), 10 X-linked spinal and bulbar muscular atrophy (SBMA) and 11 autosomal dominant c9orf72-mutated amyotrophic lateral sclerosis (c9ALS) patients. Distinct large fiber type grouping consisting of non-atrophic type IIA muscle fibers were 100% specific for the late-onset spinal muscular atrophies (SMAJ and SBMA) and were never observed in c9ALS. Common, but less specific findings included small groups of highly atrophic rounded type IIA fibers in SMAJ/SBMA, whereas in c9ALS, small group atrophies consisting of small-caliber angular fibers involving both fiber types were more characteristic. We also show that in the 2 slowly progressive motor neuron disorders (SMAJ and SBMA) the initial neurogenic features are often confused with considerable secondary "myopathic" changes at later disease stages, such as rimmed vacuoles, myofibrillar aggregates and numerous fibers reactive for fetal myosin heavy chain (dMyHC) antibodies. Based on our findings, muscle biopsy may be valuable in the diagnostic work-up of suspected motor neuron disorders in order to avoid a false ALS diagnosis in patients without clear findings of upper motor neuron lesions.

  4. Fractures associated with neuropathic arthropathy in adults who have juvenile-onset diabetes.

    PubMed

    Clohisy, D R; Thompson, R C

    1988-09-01

    Eighteen patients, twenty-five to fifty-two years old, who had juvenile-onset diabetes, had neuropathic arthropathy and fractures at the ankle or tarsus, most of which were bilateral. After a minimum follow-up of one year, four patients could not walk and fourteen were dependent on orthoses. In nine patients, the lesions produced fixed skeletal deformities that caused severe malum perforans, which in three patients was so severe that a below-the-knee amputation had to be done. In patients who had bilateral lesions, when the extremity that was initially involved was prevented from bearing weight, involvement of the contralateral limb became evident after an average of 4.5 months, compared with an average of twelve months in the patients who were allowed weight-bearing on the extremity that was initially involved. Our current treatment protocol is non-weight-bearing immobilization of the involved extremity, and we recommend prophylactic immobilization of the contralateral extremity with a protective cast or orthosis. All of the patients who had this treatment regimen could walk; in contrast, of the eleven patients who were not so treated, four could not walk.

  5. Distinct Muscle Biopsy Findings in Genetically Defined Adult-Onset Motor Neuron Disorders

    PubMed Central

    Jokela, Manu; Huovinen, Sanna; Raheem, Olayinka; Lindfors, Mikaela; Palmio, Johanna; Penttilä, Sini; Udd, Bjarne

    2016-01-01

    The objective of this study was to characterize and compare muscle histopathological findings in 3 different genetic motor neuron disorders. We retrospectively re-assessed muscle biopsy findings in 23 patients with autosomal dominant lower motor neuron disease caused by p.G66V mutation in CHCHD10 (SMAJ), 10 X-linked spinal and bulbar muscular atrophy (SBMA) and 11 autosomal dominant c9orf72-mutated amyotrophic lateral sclerosis (c9ALS) patients. Distinct large fiber type grouping consisting of non-atrophic type IIA muscle fibers were 100% specific for the late-onset spinal muscular atrophies (SMAJ and SBMA) and were never observed in c9ALS. Common, but less specific findings included small groups of highly atrophic rounded type IIA fibers in SMAJ/SBMA, whereas in c9ALS, small group atrophies consisting of small-caliber angular fibers involving both fiber types were more characteristic. We also show that in the 2 slowly progressive motor neuron disorders (SMAJ and SBMA) the initial neurogenic features are often confused with considerable secondary “myopathic” changes at later disease stages, such as rimmed vacuoles, myofibrillar aggregates and numerous fibers reactive for fetal myosin heavy chain (dMyHC) antibodies. Based on our findings, muscle biopsy may be valuable in the diagnostic work-up of suspected motor neuron disorders in order to avoid a false ALS diagnosis in patients without clear findings of upper motor neuron lesions. PMID:26999347

  6. Fatal adult-onset antibody deficiency syndrome in a patient with cartilage hair hypoplasia.

    PubMed

    Horn, Julia; Schlesier, Michael; Warnatz, Klaus; Prasse, Antje; Superti-Furga, Andrea; Peter, Hans-Hartmut; Salzer, Ulrich

    2010-09-01

    Cartilage hair hypoplasia (CHH) is an autosomal recessive disorder caused by mutations in the ribonuclease mitochondrial RNA-processing (RMRP) gene. Although its most constant feature is metaphyseal dysplasia with short stature, CHH is associated with extraskeletal defects such as thin hair, anemia, immunodeficiency, and increased incidence of lymphomas. The spectrum of immunologic phenotypes in CHH translates into clinical severity. Whereas T-cell deficiency may remain subclinical or may result in severe combined immunodeficiency or Omenn syndrome, humoral immunodeficiency has only rarely been noted in these patients. Here we report the diagnosis of CHH in a woman who presented with severe short stature and a full-blown antibody deficiency, clinically resembling common variable immunodeficiency. Sequencing of the RMRP gene revealed compound heterozygosity for two novel mutations (g.68_69delinsTT and g.76C>T). Despite the late onset of immunodeficiency in the patient, its clinical course was severe, and the patient died 3 years after the first diagnosis.

  7. New-onset diabetic ketoacidosis in a 13-months old african toddler: a case report

    PubMed Central

    Katte, Jean-Claude; Djoumessi, Romance; Njindam, Gisele; Fetse, Gerard Tama; Dehayem, Mesmin; Kengne, Andre-Pascal

    2015-01-01

    Type 1 diabetes mellitus is very rare in infants and toddlers and is usually associated with high mortality when complicated with diabetic ketoacidosis (DKA). Toddlers in DKA are often missed in our typical African setting where there is low index of suspicion. Usually, the classical symptoms are not usually at the forefront and many infants and toddlers who develop DKA are mistreated for infections. The case of a 13-months old toddler with new-onset type 1 diabetes mellitus, complicated with DKA at diagnosis is reported in view of its rarity and elevated mortality even when diagnosed in our African setting. She was subsequently treated with intravenous insulin and was passed over to subcutaneous insulin after the eradication of ketones in urine. She continues follow-up at the out-patient children diabetes clinic at the Bafoussam Regional Hospital. PMID:26966489

  8. Benign-onset acute disseminated encephalomyelitis: a report on two cases.

    PubMed

    Degirmenci, Eylem; Erdogan, Cagdas; Oguzhanoglu, Attila; Bir, Levent Sinan

    2013-05-30

    The signs and symptoms of acute disseminated encephalomyelitis are heterogeneous and dependent on the location and severity of the inflammatory process. The meningoencephalitic presentation may include meningism, impaired consciousness (occasionally leading to coma), seizures and confusion, or behavioral disturbances. Multifocal neurological features include a combination of optic neuritis, visual field defects, cranial neuropathy, sensorimotor impairment, ataxia, aphasia, and involuntary movements. One definition of acute disseminated encephalomyelitis is "an initial clinical event with a presumed inflammatory and demyelinating cause, with acute or sub-acute onset affecting multifocal areas of the central nervous system". Patients with acute disseminated encephalomyelitis frequently suffer from seizures, disturbances of consciousness, fever, and headaches, and occasionally there are focal signs and symptoms. Here, we report on two cases who presented with different symptoms, but the clinical findings that the patients showed were benign.

  9. Parental psychopathology and reports of the childhood home environment in adults with early-onset dysthymic disorder.

    PubMed

    Lizardi, H; Klein, D N

    2000-02-01

    In previous studies, patients with dysthymic disorder (DD) have reported significantly more adverse early home environments than patients with episodic major depressive disorder (MDD) and normal controls. However, DD is also associated with increased rates of mood and personality disorders in first-degree relatives, raising the possibility that the DD-early adversity relationship may be due to the confounding effects of parental psychopathology. The present study addressed this issue using a sample of 97 adult outpatients with early-onset DD, 45 adult outpatients with episodic MDD, and 45 normal controls, and their first-degree relatives. The early home environment was assessed with semi-structured interviews and self-report inventories. Parental psychopathology was assessed using semi-structured direct and family history interviews, and diagnoses were assigned using the best-estimate procedure. Results indicated that parental mood and personality disorders were strongly associated with probands' reports of early adversity. However, patients with DD continued to differ significantly from patients with episodic MDD and normal controls after controlling for parental psychopathology.

  10. RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy

    PubMed Central

    Reyes, Aurelio; Melchionda, Laura; Nasca, Alessia; Carrara, Franco; Lamantea, Eleonora; Zanolini, Alice; Lamperti, Costanza; Fang, Mingyan; Zhang, Jianguo; Ronchi, Dario; Bonato, Sara; Fagiolari, Gigliola; Moggio, Maurizio; Ghezzi, Daniele; Zeviani, Massimo

    2015-01-01

    Chronic progressive external ophthalmoplegia (CPEO) is common in mitochondrial disorders and is frequently associated with multiple mtDNA deletions. The onset is typically in adulthood, and affected subjects can also present with general muscle weakness. The underlying genetic defects comprise autosomal-dominant or recessive mutations in several nuclear genes, most of which play a role in mtDNA replication. Next-generation sequencing led to the identification of compound-heterozygous RNASEH1 mutations in two singleton subjects and a homozygous mutation in four siblings. RNASEH1, encoding ribonuclease H1 (RNase H1), is an endonuclease that is present in both the nucleus and mitochondria and digests the RNA component of RNA-DNA hybrids. Unlike mitochondria, the nucleus harbors a second ribonuclease (RNase H2). All affected individuals first presented with CPEO and exercise intolerance in their twenties, and these were followed by muscle weakness, dysphagia, and spino-cerebellar signs with impaired gait coordination, dysmetria, and dysarthria. Ragged-red and cytochrome c oxidase (COX)-negative fibers, together with impaired activity of various mitochondrial respiratory chain complexes, were observed in muscle biopsies of affected subjects. Western blot analysis showed the virtual absence of RNase H1 in total lysate from mutant fibroblasts. By an in vitro assay, we demonstrated that altered RNase H1 has a reduced capability to remove the RNA from RNA-DNA hybrids, confirming their pathogenic role. Given that an increasing amount of evidence indicates the presence of RNA primers during mtDNA replication, this result might also explain the accumulation of mtDNA deletions and underscores the importance of RNase H1 for mtDNA maintenance. PMID:26094573

  11. Sex-specific associations of low birth weight with adult-onset diabetes and measures of glucose homeostasis: Brazilian Longitudinal Study of Adult Health

    PubMed Central

    Yarmolinsky, James; Mueller, Noel T; Duncan, Bruce B; Chor, Dóra; Bensenor, Isabela M; Griep, Rosane H; Appel, Lawrence J; Barreto, Sandhi M; Schmidt, Maria Inês

    2016-01-01

    Emerging evidence suggests sex differences in the early origins of adult metabolic disease, but this has been little investigated in developing countries. We investigated sex-specific associations between low birth weight (LBW; <2.5 kg) and adult-onset diabetes in 12,525 participants from the Brazilian Longitudinal Study of Adult Health (ELSA-Brasil). Diabetes was defined by self-reported information and laboratory measurements. In confounder-adjusted analyses, LBW (vs. 2.5–4 kg) was associated with higher prevalence of diabetes in women (Prevalence Ratio (PR) 1.54, 95% CI: 1.32–1.79), not in men (PR 1.06, 95% CI: 0.91–1.25; Pheterogeneity = 0.003). The association was stronger among participants with maternal diabetes (PR 1.60, 95% CI: 1.35–1.91), than those without (PR 1.15, 95% CI: 0.99–1.32; Pheterogeneity = 0.03). When jointly stratified by sex and maternal diabetes, the association was observed for women with (PR 1.77, 95% CI: 1.37–2.29) and without (PR 1.45, 95% CI: 1.20–1.75) maternal diabetes. In contrast, in men, LBW was associated with diabetes in participants with maternal diabetes (PR 1.45, 95% CI: 1.15–1.83), but not in those without (PR 0.92, 95% CI: 0.74–1.14). These sex-specific findings extended to continuous measures of glucose homeostasis. LBW was associated with higher diabetes prevalence in Brazilian women, and in men with maternal diabetes, suggesting sex-specific intrauterine effects on adult metabolic health. PMID:27845438

  12. First Case Report of a Late Onset Knee Periprosthetic Joint Infection Caused by Lactococcus garvieae

    PubMed Central

    2016-01-01

    Lactococcus garvieae is known as a Gram-positive, catalase-negative, and facultatively anaerobic fish pathogen. The association between Lactococcus spp. and human infectious diseases is described as being mainly associated with lumbar osteomyelitis, hepatic abscess, and infective endocarditis. In the literature of orthopedic post-prosthetic infections, L. garvieae was associated with a case of hip prosthetic infection in a fishmonger woman. We present the case of a 79-year-old male patient with multiple comorbidities, who is admitted to our center with a 5-day history of pain, swelling, and motility disorder of the right knee by the presence of a bicondylar knee replacement surgery, which was performed due to gonarthrosis 17 years ago. The radiographies of the right knee revealed no signs of displacement or loosening of the prothesis. After multiple radical debridements including VAC therapy and targeted antibiotic therapy we have managed to defeat the infection without exchange arthroplasty. Although we could not demonstrate the source of infection, we can only presume that in our case the source of infection was represented by the ingestion of possibly contaminated food. The patient had a habit of eating Nile perch fish (Lates niloticus) every 4 weeks. We illustrated once more the possibility of a late onset L. garvieae related orthopedic periprosthetic joint infection by multiple comorbidities. PMID:27833769

  13. Adult Wilms' Tumour: Case Report and Review of Literature.

    PubMed

    Modi, Sunny; Tiang, Kor Woi; Inglis, Po; Collins, Stuart

    2016-01-01

    Wilms' tumour (nephroblastoma) is the most common renal tumour in children. Wilms' tumour in adults is extremely rare and has a poorer prognosis than paediatric Wilms' tumour. It is difficult to differentiate adult Wilms' tumour from renal cell carcinoma based on radiological findings alone. The diagnosis in adults is often serendipitous following nephrectomy for presumed renal cell carcinoma. Because of the paucity of literature, there are no standard protocols for the management of adult Wilms' tumour, and therefore, it is managed as per paediatric Wilms' tumour. Herein, we report the case of adult Wilms' tumour in a 43-year-old man, which was diagnosed unexpectedly following nephrectomy for presumed renal cell carcinoma.

  14. Autosomal recessive cerebellar ataxia of adult onset due to STUB1 mutations.

    PubMed

    Depondt, Chantal; Donatello, Simona; Simonis, Nicolas; Rai, Myriam; van Heurck, Roxane; Abramowicz, Marc; D'Hooghe, Marc; Pandolfo, Massimo

    2014-05-13

    Autosomal recessive ataxias affect about 1 person in 20,000. Friedreich ataxia accounts for one-third of the cases in Caucasians; the others are due to a growing list of very rare molecular defects, including mild forms of metabolic diseases. In nearly 50%, the genetic cause remains undetermined.

  15. Inhibition of GSK-3 Ameliorates Aβ Pathology in an Adult-Onset Drosophila Model of Alzheimer's Disease

    PubMed Central

    Killick, Richard; Augustin, Hrvoje; Gandy, Carina; Allen, Marcus J.; Hardy, John; Lovestone, Simon; Partridge, Linda

    2010-01-01

    Aβ peptide accumulation is thought to be the primary event in the pathogenesis of Alzheimer's disease (AD), with downstream neurotoxic effects including the hyperphosphorylation of tau protein. Glycogen synthase kinase-3 (GSK-3) is increasingly implicated as playing a pivotal role in this amyloid cascade. We have developed an adult-onset Drosophila model of AD, using an inducible gene expression system to express Arctic mutant Aβ42 specifically in adult neurons, to avoid developmental effects. Aβ42 accumulated with age in these flies and they displayed increased mortality together with progressive neuronal dysfunction, but in the apparent absence of neuronal loss. This fly model can thus be used to examine the role of events during adulthood and early AD aetiology. Expression of Aβ42 in adult neurons increased GSK-3 activity, and inhibition of GSK-3 (either genetically or pharmacologically by lithium treatment) rescued Aβ42 toxicity. Aβ42 pathogenesis was also reduced by removal of endogenous fly tau; but, within the limits of detection of available methods, tau phosphorylation did not appear to be altered in flies expressing Aβ42. The GSK-3–mediated effects on Aβ42 toxicity appear to be at least in part mediated by tau-independent mechanisms, because the protective effect of lithium alone was greater than that of the removal of tau alone. Finally, Aβ42 levels were reduced upon GSK-3 inhibition, pointing to a direct role of GSK-3 in the regulation of Aβ42 peptide level, in the absence of APP processing. Our study points to the need both to identify the mechanisms by which GSK-3 modulates Aβ42 levels in the fly and to determine if similar mechanisms are present in mammals, and it supports the potential therapeutic use of GSK-3 inhibitors in AD. PMID:20824130

  16. Pesticide Use: A Case for Adult Education.

    ERIC Educational Resources Information Center

    Wolfgang, Mary

    1983-01-01

    Indicates that there are no adequate educational programs about pesticide use, abuse, and safety. Enumerates educational needs and suggests that adult education assume a vital role in meeting those needs. (JOW)

  17. Identifying Early Onset of Hearing Loss in Young Adults With Diabetes Mellitus Type 2 Using High Frequency Audiometry.

    PubMed

    Vignesh, S S; Jaya, V; Moses, Anand; Muraleedharan, A

    2015-09-01

    Diabetes mellitus (DM) is a metabolic disorder caused by hyperglycemia which leads to dysfunction of various organs. Hearing acuity is equally hindered by this disorder. Among individuals with DM audiological characteristics of DM type 1 are of great concern in the literature. This study aims at establishing high frequency audiometry (HFA) as a useful tool in identifying early onset of hearing loss in individuals with DM type 2. 20 non-diabetic participants and 20 individuals with DM type 2 in the age range of 20-40 years were considered for the study. Subjects in both groups underwent otoscopic examination, PTA at 0.25, 0.5, 1, 2, 4 and 8 kHz and HFA at 9, 10, 11.2, 12.5, 14 and 16 kHz. Results revealed statistically significant difference in thresholds of both PTA and HFA at all frequencies across the group, but the mean threshold difference between the diabetic and non-diabetic group was marked in HFA than in PTA. In the diabetic subjects the thresholds of PTA was within 25 dBHL at all frequencies when compared to the thresholds of HFA. Individuals with DM type 2 showed bilateral symmetrical mild hearing loss in HFA and the hearing loss increased with ascending test frequencies from 9,000 to 16,000 Hz. Mild hearing loss in HFA is an indicator for early onset of hearing loss in DM type 2. Hence this present study emphasis the clinical utility of HFA in young adults with DM type 2.

  18. A common gene for juvenile and adult-onset primary open-angle glaucomas confined on chromosome 1q

    SciTech Connect

    Morissette, J.; Plante, M.; Raymond, V.

    1995-06-01

    Primary open-angle glaucoma (POAG), which causes progressive loss of the visual fields, was subdivided into two groups according to age at onset: (1) chronic open-angle glaucoma (COAG) diagnosed after 40 years and (2) juvenile open-angle glaucoma (JOAG) diagnosed between 3 years of age and early adulthood. A JOAG gene (GLC1A) was recently mapped to chromosome 1q. We studied 142 members of a huge multigenerational French Canadian family affected with autosomal dominant POAG. Either JOAG or COAG was diagnosed with ocular hypertension (OHT), which may lead to POAG. To localize a common disease gene that might be responsible for both glaucoma subsets, we performed linkage analysis considering JOAG and COAG under the same phenotypic category. JOAG/COAG was tightly linked to seven microsatellite markers on chromosome 1q23-q25; a maximum lod score of 6.62 was obtained with AF-M278ye5. To refine the disease locus, we exploited a recombination mapping strategy based on a unique founder effect. The same characteristic haplotype, composed of 14 markers spanning 12 cM between loci D1S196 and D1S212, was recognized in all persons affected by JOAG, COAG, or OHT, but it did not occur in unaffected spouses and in normal family members >35 years of age, except for three obligatory carriers. Key combination events confined the disease region within a 9-cM interval between loci D1S445 and D1S416/D1S480. These observations demonstrate that the GLC1A gene is responsible for both adult-onset and juvenile glaucomas and suggest that the JOAG and COAG categories within this family may be part of a clinical continuum artificially divided at age 40 years. 49 refs., 4 figs., 2 tabs.

  19. Is Chronic Stress During Childhood Associated with Adult-Onset Vulvodynia?

    PubMed Central

    Khandker, Maheruh; Brady, Sonya S.; Stewart, Elizabeth G.

    2014-01-01

    Abstract Background: Vulvodynia is an unexplained chronic vulvar pain condition. Case-control studies provide opportunities to examine potential mechanisms by which vulvodynia may develop. Findings inform etiological models that can be tested in subsequent prospective studies. Methods: A survey of interpersonal relationships and the Structured Clinical Interview for DSM-IV Axis I Disorders was administered to 215 case-control pairs of women with and without vulvodynia. Conditional logistic regression was used to examine associations between affect-based chronic stressors (i.e., living in fear of abuse, perceived abuse, and antecedent mood disorders) with vulvodynia. These associations were then examined among women with and without a history of childhood abuse. Results: Among women with a history of severe childhood abuse, those with vulvodynia had three times the odds of living in fear of any abuse compared to women without vulvodynia (95% confidence interval: 1.0, 11.0), after adjustment for childhood poverty. Among women with no history of childhood abuse, those with vulvodynia had over six times the odds of antecedent mood disorder compared to women without vulvodynia (95% confidence interval: 1.9,19.6). Conclusion: Our findings suggest that affect-based chronic stressors may be important to the psychobiological mechanisms of vulvodynia. Prospective studies are recommended to test biopsychosocial models of the etiology of vulvodynia. PMID:25046165

  20. Adult onset motor neuron disease: worldwide mortality, incidence and distribution since 1950.

    PubMed Central

    Chancellor, A M; Warlow, C P

    1992-01-01

    This review examines the commonly held premise that, apart from the Western Pacific forms, motor neuron disease (MND), has a uniform worldwide distribution in space and time; the methodological problems in studies of MND incidence; and directions for future epidemiological research. MND is more common in men at all ages. Age-specific incidence rises steeply into the seventh decade but the incidence in the very elderly is uncertain. A rise in mortality from MND over recent decades has been demonstrated wherever this has been examined and may be real rather than due to improved case ascertainment. Comparison of incidence studies in different places is complicated by non-standardised methods of case ascertainment and diagnosis but there appear to be differences between well studied populations. In developed countries in the northern hemisphere there is a weak positive correlation between standardised, age-specific incidence and distance from the equator. There is now strong evidence for an environmental factor as the cause of the Western Pacific forms of MND. A number of clusters of sporadic MND have been reported from developed countries, but no single agent identified as responsible. Images PMID:1479386

  1. Dominant-Negative Effects of Adult-Onset Huntingtin Mutations Alter the Division of Human Embryonic Stem Cells-Derived Neural Cells

    PubMed Central

    Lopes, Carla; Aubert, Sophie; Bourgois-Rocha, Fany; Barnat, Monia; Rego, Ana Cristina; Déglon, Nicole

    2016-01-01

    Mutations of the huntingtin protein (HTT) gene underlie both adult-onset and juvenile forms of Huntington’s disease (HD). HTT modulates mitotic spindle orientation and cell fate in mouse cortical progenitors from the ventricular zone. Using human embryonic stem cells (hESC) characterized as carrying mutations associated with adult-onset disease during pre-implantation genetic diagnosis, we investigated the influence of human HTT and of an adult-onset HD mutation on mitotic spindle orientation in human neural stem cells (NSCs) derived from hESCs. The RNAi-mediated silencing of both HTT alleles in neural stem cells derived from hESCs disrupted spindle orientation and led to the mislocalization of dynein, the p150Glued subunit of dynactin and the large nuclear mitotic apparatus (NuMA) protein. We also investigated the effect of the adult-onset HD mutation on the role of HTT during spindle orientation in NSCs derived from HD-hESCs. By combining SNP-targeting allele-specific silencing and gain-of-function approaches, we showed that a 46-glutamine expansion in human HTT was sufficient for a dominant-negative effect on spindle orientation and changes in the distribution within the spindle pole and the cell cortex of dynein, p150Glued and NuMA in neural cells. Thus, neural derivatives of disease-specific human pluripotent stem cells constitute a relevant biological resource for exploring the impact of adult-onset HD mutations of the HTT gene on the division of neural progenitors, with potential applications in HD drug discovery targeting HTT-dynein-p150Glued complex interactions. PMID:26863614

  2. World Perspective Case Descriptions on Educational Programs for Adults: Netherlands.

    ERIC Educational Resources Information Center

    Balde, Maatje; And Others

    Twenty adult education programs being conducted in the Netherlands are described in the case studies in this packet. The courses range from adult basic education to continuing education courses in languages, from basic nursing courses to advanced neurology. The following programs are profiled: (1) open school (Balde); (2) study house for adults…

  3. World Perspective Case Descriptions on Educational Programs for Adults: Ireland.

    ERIC Educational Resources Information Center

    Hassett, Michael; And Others

    Fifteen adult education programs being conducted in Ireland are described in the case studies in this packet. The courses range from adult basic education to university degree courses in management and industrial relations, from marriage preparation to inservice teacher education. The following programs are profiled: (1) certificate in farming…

  4. World Perspective Case Descriptions on Educational Programs for Adults: Italy.

    ERIC Educational Resources Information Center

    Federighi, Paolo; And Others

    Nine adult education programs being conducted in Italy are described in the case studies in this packet. The courses range from adult basic education to continuing education courses in languages and management. Most are described in connection with the area of the country in which they are offered. The following programs are profiled: (1) public…

  5. World Perspective Case Descriptions on Educational Programs for Adults: Chile.

    ERIC Educational Resources Information Center

    Donoso, Patricio; Gajardo, Marcela

    This document contains two case studies of adult education programs in Chile. Both case studies begin with a "face sheet" on which is recorded basic information about the program and the description. The first case study, prepared by Patricio Donoso, reports on Centro El Canelo de Nos, an inservice center for educators who work with…

  6. Latent Autoimmune Diabetes in Adults: a case report.

    PubMed

    Bermúdez, Valmore; Aparicio, Daniel; Colmenares, Carlos; Peñaranda, Lianny; Luti, Yettana; Gotera, Daniela; Rojas, Joselyn; Cabrera, Mayela; Reyna, Nadia; Velasco, Manuel; Israili, Zafar H

    2010-01-01

    Latent Autoimmune Diabetes in Adults (LADA) is an autoimmune endocrine disorder in which despite the presence of antipancreatic islets antibodies in the moment of diagnostics, the progression to beta-cell secretory insufficiency is slow. It is often confused with others types of diabetes and therefore the management is frequently inadequate. We report a clinical case of a 23-year-old man with diagnosis of type 2 diabetes since 6 months ago, poorly controlled with a sulfonylurea, who initially presented 2 months ago from polyuria, polydipsia, and asthenia and 6 kg weight loss. History of past illness was negative, however, his mother relates exclusive breastfeeding during the first 15 days of life and later (until the 6 months) he was fed with infant formula (S-26). Family history revealed a first-degree relative (father) with diabetes mellitus secondary to steroid administration due to diagnosis of bone marrow hypoplasia. Also presents second-degree family history (uncle and grandfather) of type 2 diabetes mellitus. There were no pathologic findings at the physical examination. Anthropometry and laboratory tests were as follows: body mass index (BMI) = 19.66 kg/m, basal and postprandial glycemia = 108, and 276 mg/dL respectively, glycated haemoglobin = 8.9%, basal and postprandial C-peptide (2 hours) = 1.9, and 3.2 ng/mL, homeostasis model assessment of beta cell function: 87.5%, homeostasis model assessment of insulin resistance: 1.6. LADA presumptive diagnosis was confirmed with presence of autoantibodies anti-tyrosin-phosphatase and GAD65. At the time of diagnosis, individuals with LADA present an onset age <50, BMI <25 kg/m2, low magnitude postprandial and basal hyperglycemia, normal or close to normal C-peptide values, and thus not occur with acute hyperglycemic crises. Insulin therapy preserves pancreatic b-cell function, at the point that eventually prescribed insulin doses need to be reduced.

  7. Epidural Brain Metastases in a Patient with Early Onset Pancreatic Cancer: A Case Report and Literature Review

    PubMed Central

    Mirrakhimov, Aibek E.; Khan, Farah N.

    2012-01-01

    We present a case of early onset pancreatic cancer related extra-axial brain metastases. A 46-year-old Caucasian non-Jewish nonobese male with a history of PC diagnosed 3 months ago with metastases to the liver, omentum, malignant ascites, and a history of a pulmonary embolism was admitted to the hospital because of a new onset headache, nausea, and vomiting which started 2 days prior to the encounter. Brain MRI was ordered, which showed acute bihemispheric subdural hematomas and left hemispheric extra-axial heterogeneously enhancing lesions consisting with metastatic disease. The patient was started on ondansentron, metoclopramide, and dexamethasone. The cranial irradiation was started, and the patient's headache and nausea significantly improved. There are only 9 published reports of extra-axial brain metastases related to the pancreatic cancer, whereas our paper is the first such case reported on a patient with epidural metastases and early onset pancreatic cancer. PMID:23119207

  8. Cytokine polymorphisms and plasma levels are associated with sleep onset insomnia in adults living with HIV/AIDS.

    PubMed

    Gay, Caryl L; Zak, Rochelle S; Lerdal, Anners; Pullinger, Clive R; Aouizerat, Bradley E; Lee, Kathryn A

    2015-07-01

    Sleep disturbance has been associated with inflammation and cytokine activity, and we previously described genetic associations between cytokine polymorphisms and sleep maintenance and duration among adults with HIV/AIDS. Although sleep onset insomnia (SOI) is also a commonly reported sleep problem, associations between cytokine biomarkers and SOI have not been adequately studied. The purpose of this study was to describe SOI in relation to cytokine plasma concentrations and gene polymorphisms in a convenience sample of 307 adults (212 men, 72 women, and 23 transgender) living with HIV/AIDS. Based on the Pittsburgh Sleep Quality Index item that asks the time it usually took to fall asleep in the past month, participants were categorized as either >30min to fall asleep (n=70, 23%) or 30min or less to fall asleep (n=237). Plasma cytokines were analyzed, and genotyping was conducted for 15 candidate genes involved in cytokine signaling: interferon-gamma (IFNG), IFNG receptor 1 (IFNGR1), interleukins (IL1R2, IL2, IL4, IL6, IL8, IL10, IL13, IL17A), nuclear factor of kappa light polypeptide gene enhancer in B cells (NFKB1 and NFKB2), and tumor necrosis factor alpha (TNFA). Demographic and clinical variables were evaluated as potential covariates. After adjusting for genomic estimates of ancestry, self-reported race/ethnicity and viral load, SOI was associated with higher IL-13 plasma levels and with six single nucleotide polymorphisms (SNPs): IL1B rs1143642 and rs1143623, IL6 rs4719714, IL13 rs1295686, NFKB1 rs4648110, and TNFA rs2857602. In addition, the IL1B rs1143642 polymorphism was associated with plasma levels of IL-1β in adjusted analyses. This study strengthens the evidence for an association between inflammation and sleep disturbance, particularly self-report of habitual SOI. In this chronic illness population, the cytokine polymorphisms associated with SOI provide direction for future personalized medicine intervention research.

  9. Relationship Between Longitudinal Measures of Renal Function and Onset of Dementia Among a Community Cohort of Older Adults

    PubMed Central

    O’Hare, Ann M.; Walker, Rod; Haneuse, Sebastian; Crane, Paul K.; McCormick, Wayne C.; Bowen, James D.; Larson, Eric B.

    2012-01-01

    Background Prior studies have described a higher incidence of dementia or worsening cognitive function in patients with lower levels of kidney function at a single point in time. Objectives To evaluate the association between dynamic measures of renal function ascertained over time with onset of dementia. Design prospective community cohort study. Setting and Participants 2,968 adults aged 65 and older followed for the development of dementia over a median of 6.0 years (interquartile range 3.1–10.1 years). Measurements Time varying measures of renal function were constructed based on a total of 49,340 serum creatinine measurements and included: the average level of estimated glomerular filtration rate (eGFR), eGFR trajectory and variability in eGFR around this trajectory over 5-year exposure windows. The association between these three eGFR exposure measures and risk of dementia was estimated using a Cox regression model adjusted for other patient characteristics. In sensitivity analyses, we also adjusted for time-varying measures of urine protein by dipstick. Results Patients with lower levels of eGFR had a higher incidence of dementia but this did not reach statistical significance in adjusted analyses (omnibus p value=0.14). There were trends toward a higher adjusted incidence of dementia in patients with positive eGFR trajectories (omnibus p value=0.07) and greater variability in eGFR (omnibus p value=0.04) over time. The results of sensitivity analyses, including those in which we included time-varying measures of proteinuria, were consistent with those of the primary analysis. Conclusion Among a community cohort of older adults followed for a median of 6 years, we did not find strong associations between measures of kidney disease severity and progression and incident dementia. PMID:23231548

  10. Metabolic programming effects initiated in the suckling period predisposing for adult-onset obesity cannot be reversed by calorie restriction

    PubMed Central

    Srinivasan, Malathi; Mahmood, Saleh

    2013-01-01

    Neonatal rats reared on high-carbohydrate (HC) milk formula developed chronic hyperinsulinemia and adult-onset obesity due to programming of islets and the hypothalamic energy circuitry. In this study, calorie restriction by pair-feeding was imposed on HC male rats (HC/PF) to normalize food intake similar to that of mother-fed (MF) rats from weaning until postnatal day 140. A group of HC/PF rats was switched over to ad libitum feeding (HC/PF/AL) from days 90 to 140. Pair-feeding reduced body weight gains and serum insulin and leptin levels in HC/PF rats compared with HC rats, but these parameters were restored to HC levels in the HC/PF/AL rats after ad libitum feeding. Interestingly, the heightened insulin secretory response of isolated islets from adult HC/PF and HC/PF/ AL rats to glucose, acetylcholine, and oxymetazoline were not significantly different from the responses of islets from HC rats. Similarly, the expression of neuropeptide Y and proopiomelanocortin in the hypothalamus was not significantly different among HC, HC/PF, and HC/PF/AL rats. Expression of the leptin receptor in the hypothalami from the HC, HC/PF, and HC/PF/AL rats mirrored that of serum leptin, whereas suppressor of cytokine signaling 3 (Socs3) expression remained high in these three groups. The results indicate that, although calorie restriction resulted in reduction in body weight gain and normalized the serum hormonal pattern, the programed predisposition for the hypersecretory capacity of islets and the hypothalamic hyperphagic response in the HC rats could not be permanently overcome by the pair-feeding imposed on HC rats. PMID:23249696

  11. [Visceral leishmaniasis in adults: about twelve cases].

    PubMed

    Benbella, Imane; Aich, Fatima; Elkhiyat, Majdouline; Khalki, Hanane; Khermach, Assya; Bergui, Imane; Tlemçani, Imane; Hassani, Moncef Amrani

    2016-01-01

    Visceral leishmaniasis is a vector-borne disease essentially associated with Leishmania infantum infection in the Mediterranean basin. Although rare in adults, its prevalence has recently increased even among immunocompetent individuals. The aim of our study is to reveal the epidemiological features of visceral leishmaniasis in adults and the importance of biological diagnostic in the identification of this disease. Our study spanned six years from January 2009 to January 2014 and data were collected from twelve patients hospitalized at University Hospital Hassan II, Fez. Alteration of general state and splenomegaly dominated the clinical picture. Biologically, anemia was almost constant. Diagnosis was confirmed by parasite identification at the level of bone marrow. The response to treatment was favorable for all our patients. Thus, visceral leishmaniasis recrudescence in adults and its nonspecific clinical picture must lead the clinicians to suspect it when fever accompanying splenomegaly occurs, thus enabling early diagnosis and therapeutic management.

  12. Rare Elizabethkingia meningosepticum meningitis case in an immunocompetent adult

    PubMed Central

    Hayek, Salim S; Abd, Thura T; Cribbs, Sushma K; Anderson, Albert M; Melendez, Andre; Kobayashi, Miwako; Polito, Carmen; (Wayne) Wang, Yun F

    2013-01-01

    Though Elizabethkingia meningosepticum typically causes meningitis in neonates, its occurrence in adult is rare, with sixteen cases described worldwide. We report a case of E. meningosepticum meningitis in an immunocompetent adult. Bacterial identification was made a day earlier than conventional method by using matrix assisted laser desorption ionization time-of-flight (MALDI-TOF) Vitek mass spectrometry RUO (VMS), which resulted in successful treatment with rifampin, trimethoprim-sulfamethoxazole, levofloxacin and minocycline. PMID:26038458

  13. The Phospholipase D2 Knock Out Mouse Has Ectopic Purkinje Cells and Suffers from Early Adult-Onset Anosmia

    PubMed Central

    Zhang, Qifeng; Smethurst, Elizabeth; Segonds-Pichon, Anne; Schrewe, Heinrich; Wakelam, Michael J. O.

    2016-01-01

    Phospholipase D2 (PLD2) is an enzyme that produces phosphatidic acid (PA), a lipid messenger molecule involved in a number of cellular events including, through its membrane curvature properties, endocytosis. The PLD2 knock out (PLD2KO) mouse has been previously reported to be protected from insult in a model of Alzheimer's disease. We have further analysed a PLD2KO mouse using mass spectrophotometry of its lipids and found significant differences in PA species throughout its brain. We have examined the expression pattern of PLD2 which allowed us to define which region of the brain to analyse for defect, notably PLD2 was not detected in glial-rich regions. The expression pattern lead us to specifically examine the mitral cells of olfactory bulbs, the Cornus Amonis (CA) regions of the hippocampus and the Purkinje cells of the cerebellum. We find that the change to longer PA species correlates with subtle architectural defect in the cerebellum, exemplified by ectopic Purkinje cells and an adult-onset deficit of olfaction. These observations draw parallels to defects in the reelin heterozygote as well as the effect of high fat diet on olfaction. PMID:27658289

  14. Male predominance among Japanese adult patients with late-onset hemorrhagic cystitis after hematopoietic stem cell transplantation.

    PubMed

    Asano, Y; Kanda, Y; Ogawa, N; Sakata-Yanagimoto, M; Nakagawa, M; Kawazu, M; Goyama, S; Kandabashi, K; Izutsu, K; Imai, Y; Hangaishi, A; Kurokawa, M; Tsujino, S; Ogawa, S; Aoki, K; Chiba, S; Motokura, T; Hirai, H

    2003-12-01

    Late-onset hemorrhagic cystitis (LHC) after hematopoietic stem cell transplantation (HSCT) is mainly caused by viral infections. We retrospectively analyzed the records of 141 Japanese adult patients who underwent a first allogeneic HSCT from 1995 to 2002. In all, 19 patients developed LHC a median of 51 days after HSCT. Adenovirus (AdV) was detected in the urine of 10 LHC patients, of whom eight had AdV type 11. Five of the six available serum samples from these patients were also positive for AdV type 11, but the detection of AdV in serum was not associated with a worse outcome. Male sex and the development of grade II-IV acute graft-versus-host disease were identified as independent significant risk factors for LHC. Male predominance was detected in LHC after HSCT, as has been previously shown in children with AdV-induced acute HC. The detection of AdV DNA in serum did not predict a poor outcome.

  15. The Northern Ireland Early Onset Psychosis Study: Phenomenology and Co-Morbidity in the First 25 Cases

    ERIC Educational Resources Information Center

    Fulton, Karen; Short, Mary; Harvey-Smith, Diane; Rushe, Teresa M.; Mulholland, Ciaran

    2008-01-01

    Diagnosing psychotic disorders in young people is difficult. High rates of co-morbidity may be one reason for this difficulty, but it may also be the case that current diagnostic categories are not the most useful when approaching the care of young people with psychotic symptoms. The Northern Ireland Early Onset Psychosis Study is the first study…

  16. Helicobacter pylori infection and early onset myocardial infarction: case-control and sibling pairs study

    PubMed Central

    Danesh, John; Youngman, Linda; Clark, Sarah; Parish, Sarah; Peto, Richard; Collins, Rory

    1999-01-01

    Objectives To examine the association between coronary heart disease and chronic Helicobacter pylori infection. Design Case-control study of myocardial infarction at young ages and study of sibling pairs with one member affected and the other not. Setting United Kingdom. Participants 1122 survivors of suspected acute myocardial infarction at ages 30-49 (mean age 44 years) and 1122 age and sex matched controls with no history of coronary heart disease; 510 age and sex matched pairs of siblings (mean age 59 years) in which one sibling had survived myocardial infarction and one had no history of coronary heart disease. Main outcome measures Serological evidence of chronic infection with H pylori. Results 472 (42%) of the 1122 cases with early onset myocardial infarction were seropositive for H pylori antibodies compared with 272 (24%) of the 1122 age and sex matched controls, giving an odds ratio of 2.28 (99% confidence interval 1.80 to 2.90). This odds ratio fell to 1.87 (1.42 to 2.47; P<0.0001) after smoking and indicators of socioeconomic status were adjusted for and to 1.75 (1.29 to 2.36) after additional adjustment for blood lipid concentrations and obesity. Only 158 of the 510 pairs of siblings were discordant for H pylori status; among these, 91 cases and 67 controls were seropositive (odds ratio 1.33 (0.86 to 2.05)). No strong correlations were observed between H pylori seropositivity and measurements of other risk factors for coronary heart disease (plasma lipids, fibrinogen, C reactive protein, albumin, etc). Conclusion In the context of results from other relevant studies, these two studies suggest a moderate association between coronary heart disease and H pylori seropositivity that cannot be fully accounted for by other risk factors. But even if this association is causal and largely reversible by eradication of chronic infection, very large randomised trials would be needed to show this. Key messagesMost previous studies of associations between chronic H

  17. Adult-onset deficiency in growth hormone and insulin-like growth factor-I alters oligodendrocyte turnover in the corpus callosum.

    PubMed

    Hua, Kun; Forbes, M Elizabeth; Lichtenwalner, Robin J; Sonntag, William E; Riddle, David R

    2009-08-01

    Growth hormone (GH) and insulin-like growth factor-I (IGF-I) provide trophic support during development and also appear to influence cell structure, function and replacement in the adult brain. Recent studies demonstrated effects of the GH/IGF-I axis on adult neurogenesis, but it is unclear whether the GH/IGF-I axis influences glial turnover in the normal adult brain. In the current study, we used a selective model of adult-onset GH and IGF-I deficiency to evaluate the role of GH and IGF-I in regulating glial proliferation and survival in the adult corpus callosum. GH/IGF-I-deficient dwarf rats of the Lewis strain were made GH/IGF-I replete via twice daily injections of GH starting at postnatal day 28 (P28), approximately the age at which GH pulse amplitude increases in developing rodents. GH/IGF-I deficiency was initiated in adulthood by removing animals from GH treatment. Quantitative analyses revealed that adult-onset GH/IGF-I deficiency decreased cell proliferation in the white matter and decreased the survival of newborn oligodendrocytes. These findings are consistent with the hypothesis that aging-related changes in the GH/IGF-I axis produce deficits in ongoing turnover of oligodendrocytes, which may contribute to aging-related cognitive changes and deficits in remyelination after injury.

  18. Genetic and clinical analysis of nonsyndromic hearing impairment in pediatric and adult cases

    PubMed Central

    Xing, J; Tian, Y; Tan, J; Zhao, H

    2016-01-01

    Abstract Previous studies have linked GJB2 gene and mitochondrial DNA (mtDNA) mutations to nonsyndromic hearing impairment (NSHI), but no study in China has yet investigated these mutations across all age groups. To fill the gap, this study ascertained 263 patients with NSHI between ages 2 months and 60 years and analyzed the presence of GJB2 gene and mtDNA A1555G/C1494T mutations by polymerase chain reaction (PCR) and DNA sequencing. A total of 20 types of mutations were detected for the GJB2 gene. The GJB2 gene and mtDNA A1555G/C1494T mutations were detected in 18.63 and 11.41% cases, respectively. At the first hospital visit, GJB2 gene mutations were detected in 5.97% of adult patients (>18 years) and 22.96% pediatric patients (<18 years) (χ2 =9.506, p = 0.002), and mtDNA A1555G/C1494T mutations were detected in 31.34% of adult patients and 4.59% of pediatric patients (χ2 = 35.359, p <0.001). When patients were classified by age at onset of deafness, significantly more (20.68%) pediatric patients had GJB2 gene mutations than did adult patients (0.0%) (χ2 = 4.685; p = 0.006). Mitochondrial DNA A1555G/C1494T mutations were detected in 15.38% of adult-onset and 8.86% pediatric-onset patients, respectively. Interestingly, most GJB2 gene mutation carriers experienced NSHI onset within the first year of life (65.31%), while mtDNA A1555G/C1494T mutation carriers experienced onset at any age. Therefore, GJB2 gene mutations appear to contribute to congenital deafness, while mtDNAA1555G/C1494T mutations contribute mainly to acquired deafness in Chinese individuals. Both newborn hearing screening and genetic testing are important to diagnose and treat deafness. PMID:27785406

  19. Gland New Psychosis: New Onset Adult Psychosis with Suicidal Ideation and Attempt in the Setting of Thyroid Storm

    PubMed Central

    2017-01-01

    We present a case of new onset psychosis in the setting of thyroid storm in a woman with no previous psychiatric history. The patient presented with ongoing suicidal ideation, a suicide attempt that was interrupted by her husband, and audio and visual hallucinations. The patient was placed on a psychiatric hold and treated for thyrotoxicosis as well as psychosis. Treatment of the thyroid hormone overload resulted in a rapid resolution of her symptoms; she was discharged in excellent condition, and she has had no repeat hallucinations or self-injury ideation or attempts since. Although rare, thyrotoxicosis is a potentially life-threatening cause of psychiatric illness and should always be kept on the differential diagnosis for a patient with a first episode of psychosis. This case highlights how thyroid storm physiology, beyond its well-studied hemodynamic and metabolic instability, can be potentially fatal due to psychiatric sequelae. It also highlights the crucial role of a thorough history and physical exam in all patients. PMID:28367346

  20. World Perspective Case Descriptions on Educational Programs for Adults: Hungary.

    ERIC Educational Resources Information Center

    Sari, Mihaly; Durko, Matyas

    This document contains two case studies which provide an idea of the types of adult education programs available in Hungary. The first case study, prepared by Mihaly Sari, describes "The Month of Protecting Our Environment," a program developed in the small town of Puspokladany by a club of amateur anglers, a society for propagating…

  1. Laboratory findings in four cases of adult botulism suggest colonization of the intestinal tract.

    PubMed Central

    McCroskey, L M; Hatheway, C L

    1988-01-01

    There was laboratory evidence of intestinal colonization in four cases of adult botulism confirmed by the Centers for Disease Control. No performed toxin was detected in available foods, but Clostridium botulinum was isolated from foods in two instances. Botulinal toxin was detected in the sera of all four patients, in one case at 47 days after ingestion of suspected food. C. botulinum was demonstrated in the stool of all four patients and persisted for 119 days after the onset of illness in one patient. Two patients had surgical alterations of the gastrointestinal tract, which may have promoted the colonization. The apparent lack of ingestion of performed toxin in these cases and the persistence of botulinal toxin or C. botulinum, or both, for long periods in three of the patients suggest that colonization of the intestinal tract occurred. PMID:3290234

  2. [Final height in symptomatic boys with late-onset adrenal hyperplasia (LOCAH), treated with glucocorticoids. Clinical cases].

    PubMed

    Pasqualini, Titania; Alonso, Guillermo; Fernández, Cecilia; Buzzalino, Noemí; Dain, Liliana

    2013-04-01

    Although corticoid replacement is recommended for those late-onset adrenal hyperplasia with clinical manifestations, asymptomatic patients do not need treatment. We describe clinical features at diagnosis, treatment, and growth till adult- height, in 4 boys. At diagnosis, age ranged from 9.2-11.6 years. The initial symptoms/signs were: precocious pubarche (n = 2), accelerated bone age (n = 1) and precocious puberty (n = 1). All of them presented elevated 17 hydroxyprogesterone levels and were compound heterozygotes carrying p.V281L mutation. Since, at diagnosis, bone age was significantly advanced for chronological age (13.1 ± 0.5 vs. 10.2 ± 1.1 p = 0.008), hydrocortisone therapy was initiated. During follow-up, mean height Z score decreased 1.4 ± 0.4 SDS (p = 0.007), though adult mean height was not different from target height (-0.39 ± 0.7 vs. -0.04 ± 0.5 SDS, p = 0.054). In conclusion, in 4 symptomatic patients, accurate treatment of late-onset adrenal hyperplasia led to an adult mean height not different from target height. Advanced bone age at diagnosis and the loss of height during pubertal development suggest the need of therapy.

  3. New-onset lupus nephritis in a kidney transplant recipient with cystinosis-differential diagnosis with cysteamine-induced lupus: case report.

    PubMed

    Rocha, S; Martins, L S; Vizcaíno, R; Dias, L; Almeida, M; Pedroso, S; Vidinha, J; Rocha, M; Rocha, G; Mota, C; Henriques, A; Cabrita, A

    2011-01-01

    A case of lupus nephritis in an adult female kidney transplant recipient with cystinosis under cysteamine therapy is reported. Previous reports of new-onset lupus in cystinotic patients have focused in a possible relationship of lupus with cysteamine therapy, but no obvious pathophysiological association has been disclosed. The authors present a case of a 19-year-old female kidney transplant recipient with cystinosis admitted for acute allograft dysfunction, with clinical and immunologic manifestations of lupus nephritis. Cysteamine was considered as a potential cause of drug-induced lupus, and we temporarily interrupted this drug. The clinical picture, the negativity of antihistone antibodies, the nondisappearance of antinuclear antibodies after discontinuation of the drug, and the clinical stability after resuming cysteamine therapy suggested that the underlying mechanism of lupus was unrelated to the drug. This may be the first report of new-onset lupus in a kidney transplant recipient with cystinosis. Clinicians should be aware of the association of autoimmune abnormalities in patients with cystinosis.

  4. A fully nonparametric estimator of the marginal survival function based on case-control clustered age-at-onset data.

    PubMed

    Gorfine, Malka; Bordo, Nadia; Hsu, Li

    2017-01-01

    SummaryConsider a popular case-control family study where individuals with a disease under study (case probands) and individuals who do not have the disease (control probands) are randomly sampled from a well-defined population. Possibly right-censored age at onset and disease status are observed for both probands and their relatives. For example, case probands are men diagnosed with prostate cancer, control probands are men free of prostate cancer, and the prostate cancer history of the fathers of the probands is also collected. Inherited genetic susceptibility, shared environment, and common behavior lead to correlation among the outcomes within a family. In this article, a novel nonparametric estimator of the marginal survival function is provided. The estimator is defined in the presence of intra-cluster dependence, and is based on consistent smoothed kernel estimators of conditional survival functions. By simulation, it is shown that the proposed estimator performs very well in terms of bias. The utility of the estimator is illustrated by the analysis of case-control family data of early onset prostate cancer. To our knowledge, this is the first article that provides a fully nonparametric marginal survival estimator based on case-control clustered age-at-onset data.

  5. Onset of Ulcerative Colitis after Helicobacter pylori Eradication Therapy: A Case Report

    PubMed Central

    Chiba, Mitsuro; Tsuji, Tsuyotoshi; Takahashi, Kenichi; Komatsu, Masafumi; Sugawara, Takeshi; Ono, Iwao

    2016-01-01

    In Japan, Helicobacter pylori eradication has been approved since 2013 for treatment of H pylori-induced chronic gastritis, in an attempt to reduce the prevalence of gastric cancer, a leading cancer in Japan. H pylori infection affects more than 50% of the world’s population. H pylori eradication therapy is generally safe. To our knowledge, no case of newly diagnosed ulcerative colitis occurring immediately after H pylori eradication therapy has previously been reported. A 63-year-old man received a diagnosis of chronic gastritis and H pylori infection. In early March 2014, primary H pylori eradication therapy was initiated; lansoprazole, amoxicillin, and clarithromycin were administered for 1 week. Beginning on the fourth day, he had watery diarrhea twice a day. From the 11th day, bloody stools and watery diarrhea increased to 6 times a day. Colonoscopy, performed on the 40th day after termination of drug therapy, revealed diffuse inflammation in the distal aspect of the colon, with histologic findings consistent with ulcerative colitis. He was admitted to the hospital and was provided with a semivegetarian diet and metronidazole. He noticed a gradual decrease in the amount of blood in his feces then a disappearance of the blood. A fecal occult blood test on the 11th hospital day recorded 337 ng/mL. Fecal occult blood test is not indicated during macroscopic bloody stool but is indicated after disappearance of bloody stool. Therefore, he achieved clinical remission by the 11th hospital day. He was in remission on discharge. New onset of ulcerative colitis should be added to a list of adverse events of H pylori eradication therapy. PMID:27043835

  6. The Effects of Proprioceptive Neuromuscular Facilitation Stretching on Post-Exercise Delayed Onset Muscle Soreness in Young Adults.

    PubMed

    McGRATH, Ryan P; Whitehead, James R; Caine, Dennis J

    Until recently, the scientific community believed that post-exercise stretching could reduce delayed onset muscle soreness (DOMS), but recent reviews of studies on the topic have concluded that pre- or post-exercise static stretching has no effect on mitigating DOMS. However, the effect of proprioceptive neuromuscular facilitation (PNF) post-exercise stretching on preventing DOMS has not been adequately studied. The purpose of this study was to determine the effect of post-exercise PNF stretching on DOMS. Young adult participants (N=57) were randomly assigned to a PNF stretching group (n=19), a static stretching group (n=20), and to a no-stretching control group (n=18). All participants completed exercise designed to induce DOMS prior to post-exercise experimental stretching protocols. Participants rated their soreness level on a pain scale 24 and 48 hours post-exercise. A 3 × 2 mixed ANOVA showed there was an effect for time (p<.01). Post hoc testing revealed that DOMS pain significantly decreased (p<.05) from 24 to 48 hours post-exercise for the PNF and control groups, but not for the static stretching group. Other analyses revealed a significant correlation (r=.61, p<.01) between the pre- and post-exercise stretch scores and the 48 hour post-exercise pain score for the PNF group. Consistent with the results of previous research on post-exercise static stretching, these results indicate that post-exercise PNF stretching also does not prevent DOMS. However, the correlation analysis suggests it is possible the pre-stretch muscle contractions of the post-exercise PNF protocol may have placed a load on an already damaged muscle causing more DOMS for some participants.

  7. The Effects of Proprioceptive Neuromuscular Facilitation Stretching on Post-Exercise Delayed Onset Muscle Soreness in Young Adults

    PubMed Central

    McGRATH, RYAN P.; WHITEHEAD, JAMES R.; CAINE, DENNIS J.

    2014-01-01

    Until recently, the scientific community believed that post-exercise stretching could reduce delayed onset muscle soreness (DOMS), but recent reviews of studies on the topic have concluded that pre- or post-exercise static stretching has no effect on mitigating DOMS. However, the effect of proprioceptive neuromuscular facilitation (PNF) post-exercise stretching on preventing DOMS has not been adequately studied. The purpose of this study was to determine the effect of post-exercise PNF stretching on DOMS. Young adult participants (N=57) were randomly assigned to a PNF stretching group (n=19), a static stretching group (n=20), and to a no-stretching control group (n=18). All participants completed exercise designed to induce DOMS prior to post-exercise experimental stretching protocols. Participants rated their soreness level on a pain scale 24 and 48 hours post-exercise. A 3 × 2 mixed ANOVA showed there was an effect for time (p<.01). Post hoc testing revealed that DOMS pain significantly decreased (p<.05) from 24 to 48 hours post-exercise for the PNF and control groups, but not for the static stretching group. Other analyses revealed a significant correlation (r=.61, p<.01) between the pre- and post-exercise stretch scores and the 48 hour post-exercise pain score for the PNF group. Consistent with the results of previous research on post-exercise static stretching, these results indicate that post-exercise PNF stretching also does not prevent DOMS. However, the correlation analysis suggests it is possible the pre-stretch muscle contractions of the post-exercise PNF protocol may have placed a load on an already damaged muscle causing more DOMS for some participants. PMID:27182398

  8. Adult Wilms’ Tumour: Case Report and Review of Literature

    PubMed Central

    Tiang, Kor Woi; Inglis, Po; Collins, Stuart

    2016-01-01

    Wilms’ tumour (nephroblastoma) is the most common renal tumour in children. Wilms’ tumour in adults is extremely rare and has a poorer prognosis than paediatric Wilms’ tumour. It is difficult to differentiate adult Wilms’ tumour from renal cell carcinoma based on radiological findings alone. The diagnosis in adults is often serendipitous following nephrectomy for presumed renal cell carcinoma. Because of the paucity of literature, there are no standard protocols for the management of adult Wilms’ tumour, and therefore, it is managed as per paediatric Wilms’ tumour. Herein, we report the case of adult Wilms’ tumour in a 43-year-old man, which was diagnosed unexpectedly following nephrectomy for presumed renal cell carcinoma. PMID:28326278

  9. Objective measures of sleep and dim light melatonin onset in adolescents and young adults with delayed sleep phase disorder compared to healthy controls.

    PubMed

    Saxvig, Ingvild W; Wilhelmsen-Langeland, Ane; Pallesen, Ståle; Vedaa, Oystein; Nordhus, Inger H; Sørensen, Eli; Bjorvatn, Bjørn

    2013-08-01

    Delayed sleep phase disorder is characterized by a delay in the timing of the major sleep period relative to conventional norms. The sleep period itself has traditionally been described as normal. Nevertheless, it is possible that sleep regulatory mechanism disturbances associated with the disorder may affect sleep duration and/or architecture. Polysomnographic data that may shed light on the issue are scarce. Hence, the aim of this study was to examine polysomnographic measures of sleep in adolescents and young adults with delayed sleep phase disorder, and to compare findings to that of healthy controls. A second aim was to estimate dim light melatonin onset as a marker of circadian rhythm and to investigate the phase angle relationship (time interval) between dim light melatonin onset and the sleep period. Data from 54 adolescents and young adults were analysed, 35 diagnosed with delayed sleep phase disorder and 19 healthy controls. Results show delayed timing of sleep in participants with delayed sleep phase disorder, but once sleep was initiated no group differences in sleep parameters were observed. Dim light melatonin onset was delayed in participants with delayed sleep phase disorder, but no difference in phase angle was observed between the groups. In conclusion, both sleep and dim light melatonin onset were delayed in participants with delayed sleep phase disorder. The sleep period appeared to occur at the same circadian phase in both groups, and once sleep was initiated no differences in sleep parameters were observed.

  10. Genes Interacting with Occupational Exposures to Low Molecular Weight Agents and Irritants on Adult-Onset Asthma in Three European Studies

    PubMed Central

    Rava, Marta; Ahmed, Ismail; Kogevinas, Manolis; Le Moual, Nicole; Bouzigon, Emmanuelle; Curjuric, Ivan; Dizier, Marie-Hélène; Dumas, Orianne; Gonzalez, Juan R.; Imboden, Medea; Mehta, Amar J.; Tubert-Bitter, Pascale; Zock, Jan-Paul; Jarvis, Deborah; Probst-Hensch, Nicole M.; Demenais, Florence; Nadif, Rachel

    2016-01-01

    Background: The biological mechanisms by which cleaning products and disinfectants—an emerging risk factor—affect respiratory health remain incompletely evaluated. Studying genes by environment interactions (G × E) may help identify new genes related to adult-onset asthma. Objectives: We identified interactions between genetic polymorphisms of a large set of genes involved in the response to oxidative stress and occupational exposures to low molecular weight (LMW) agents or irritants on adult-onset asthma. Methods: Our data came from three large European cohorts: Epidemiological Family-based Study of the Genetics and Environment of Asthma (EGEA), Swiss Cohort Study on Air Pollution and Lung and Heart Disease in Adults (SAPALDIA), and European Community Respiratory Health Survey in Adults (ECRHS). A candidate pathway–based strategy identified 163 genes involved in the response to oxidative stress and potentially related to exposures to LMW agents/irritants. Occupational exposures were evaluated using an asthma job-exposure matrix and job-specific questionnaires for cleaners and healthcare workers. Logistic regression models were used to detect G × E interactions, adjusted for age, sex, and population ancestry, in 2,599 adults (mean age, 47 years; 60% women, 36% exposed, 18% asthmatics). p-Values were corrected for multiple comparisons. Results: Ever exposure to LMW agents/irritants was associated with current adult-onset asthma [OR = 1.28 (95% CI: 1.04, 1.58)]. Eight single nucleotide polymorphism (SNP) by exposure interactions at five loci were found at p < 0.005: PLA2G4A (rs932476, chromosome 1), near PLA2R1 (rs2667026, chromosome 2), near RELA (rs931127, rs7949980, chromosome 11), PRKD1 (rs1958980, rs11847351, rs1958987, chromosome 14), and PRKCA (rs6504453, chromosome 17). Results were consistent across the three studies and after accounting for smoking. Conclusions: Using a pathway-based selection process, we identified novel genes potentially involved

  11. Three Adult Cases of Orbital Hidrocystoma Presenting with Blepharoptosis

    PubMed Central

    Ferraz, Lucieni B.; Burroughs, John R.; Satto, Larissa H.; Natsuaki, Kryscia L.; Meneguin, Roberta L. F. S.; Marques, Mariangela E. A.; Schellini, Silvana A.

    2015-01-01

    Purpose: To report adult cases of superior orbital apocrine hidrocystoma. Methods: Retrospective case series of three patients with superior orbital apocrine hidrocystoma and blepharoptosis with review of the clinical aspects of each of the cases. Results: All three cases presented with blepharoptosis. Two of the cases had occult hidrocystoma, and one was visibly subcutaneous at presentation. Conclusions: Although rare and more common along the eyelid margin, apocrine hidrocystomas may occur in the orbit leading to secondary blepharoptosis and should be included within the differential diagnosis of orbital cysts. Physicians should therefore be aware of this possibility. PMID:26237024

  12. PLA2G6 Mutations Related to Distinct Phenotypes: A New Case with Early-onset Parkinsonism

    PubMed Central

    Giri, Anamika; Guven, Gamze; Hanagasi, Hasmet; Hauser, Ann-Kathrin; Erginul-Unaltuna, Nihan; Bilgic, Basar; Gurvit, Hakan; Heutink, Peter; Gasser, Thomas; Lohmann, Ebba; Simón-Sánchez, Javier

    2016-01-01

    Background PLA2G6-associated neurodegeneration (PLAN) is a recessive neurodegenerative disorder characterized by three distinct phenotypes: infantile neuroaxonal dystrophy (INAD), atypical neuroaxonal dystrophy (atypical NAD), and PLA2G6-related dystonia–parkinsonism. Methods A consanguineous index case from Turkey was diagnosed with early-onset Parkinsonism at the Istanbul Faculty of Medicine. She and her unaffected brother were subjected to whole-genome sequencing. Results In this report, we describe a 33-year-old index case with parental consanguinity and early-onset Parkinsonism. Whole-genome sequencing of this individual revealed that a homozygous p.R747W mutation in PLA2G6 segregates with the disease in this family Discussion This result supports the importance of prioritizing this gene in mutational analysis of autosomal recessive Parkinsonism, and confirms the clinical heterogeneity of PLAN. PMID:27127721

  13. Head Trauma as a Precipitating Factor for Late-onset Leigh Syndrome: a Case Report

    PubMed Central

    Ashrafi, Farzad; Pakdaman, Hossein; Arabahmadi, Mehran; Behnam, Behdad

    2017-01-01

    Leigh syndrome is a severe progressive neurodegenerative disorder with different clinical presentationsthat usually becomes apparent in the first year of life and rarely in late childhood and elderly years. It is causedby failure of mitochondrial respiratory chain and often results in regression of both mental and motor skills and might even lead to death. In some of the inherited neurodegenerative diseases like Alexander disease, head trauma is reported as a trigger for onset of the disease. We present a late onset Leigh syndrome in a 14-year-old girl whose symptoms were initiating following head trauma. PMID:28286850

  14. Probabilistic differential diagnosis of Middle East respiratory syndrome (MERS) using the time from immigration to illness onset among imported cases.

    PubMed

    Ejima, Keisuke; Aihara, Kazuyuki; Nishiura, Hiroshi

    2014-04-07

    Middle East respiratory syndrome (MERS) has spread worldwide since 2012. As the clinical symptoms of MERS tend to be non-specific, the incubation period has been shown to complement differential diagnosis, especially to rule out influenza. However, because an infection event is seldom directly observable, the present study aims to construct a diagnostic model that predicts the probability of MERS diagnosis given the time from immigration to illness onset among imported cases which are suspected of MERS. Addressing censoring by considering the transmission dynamics in an exporting country, we demonstrate that the illness onset within 2 days from immigration is suggestive of influenza. Two exceptions to suspect MERS even for those with illness onset within 2 days since immigration are (i) when we observe substantial community transmissions of MERS and (ii) when the cases are at high risk of MERS (e.g. cases with close contact in hospital or household). It is vital to collect the information of the incubation period upon emergence of a novel infectious disease, and moreover, in our model, the fundamental transmission dynamics including the initial growth rate has to be explored to differentiate the disease diagnoses with non-specific symptoms.

  15. Adult onset asymmetric upper limb tremor misdiagnosed as Parkinson’s disease: A clinical and electrophysiological study

    PubMed Central

    Schwingenschuh, Petra; Ruge, Diane; Edwards, Mark J; Terranova, Carmen; Katschnig, Petra; Carrillo, Fatima; Silveira-Moriyama, Laura; Schneider, Susanne A; Kägi, Georg; Dickson, John; Lees, Andrew J; Quinn, Niall; Mir, Pablo; Rothwell, John C; Bhatia, Kailash P

    2010-01-01

    different from controls. Taken together, these results may help differentiate these SWEDDs patients from PD and support our hypothesis that adult-onset dystonia is the underlying diagnosis in this sub-group of patients with SWEDDs. PMID:20131394

  16. A Case of Delayed-Onset Propionibacterium acnes Endophthalmitis after Cataract Surgery with Implantation of a Preloaded Intraocular Lens

    PubMed Central

    Hayashi, Yuki; Eguchi, Hiroshi; Miyamoto, Tatsuro; Inoue, Masayuki; Mitamura, Yoshinori

    2012-01-01

    Purpose To report a case of delayed-onset endophthalmitis after implantation of a preloaded intraocular lens (IOL) and examine the surgically removed IOL by scanning electron microscopy (SEM). Case A 77-year-old female underwent uneventful phacoemulsification and aspiration with preloaded silicone IOL implantation. Since intraocular inflammation unexpectedly worsened 1 month after the surgery, she was referred to our hospital. Her visual acuity was hand motion in the left eye. Hypopyon and fibrin formation were observed in the anterior chamber. A diagnosis of postoperative delayed-onset endophthalmitis was made, and vitrectomy with anterior chamber wash-out was performed. As intraocular inflammation remained unchanged postoperatively, an additional surgery with IOL removal was performed. We cultivated the surgically removed samples of aqueous humor and vitreous fluid under both aerobic and anaerobic conditions, performed 16S rDNA clone library analysis of these clinical samples, and examined the removed IOL by SEM. Result Inflammation subsided after the re-operation. Although cultures of aqueous and vitreous samples were negative, DNA of Propionibacterium acnes was detected in the aqueous humor. The SEM images showed that the rod bacteria and biofilm-like material formed on the tip of the IOL haptic. Conclusion Delayed-onset endophthalmitis may occur after uneventful implantation of a preloaded IOL. The SEM findings suggested that the tip of the preloaded IOL haptic might scratch bacteria which adhered to the tip of the injector nozzle when the IOL was inserted into the anterior chamber. In some cases with delayed-onset endophthalmitis, IOL removal is needed to eliminate the bacteria which adhere to the tip of the IOL haptic. PMID:23275791

  17. A Case Report of Late Onset Mania Caused by Hyponatremia in a Patient With Empty Sella Syndrome

    PubMed Central

    Yang, Chung-Hao; Lin, Yu-Chen; Chou, Po-Han; Chen, Hung-Chieh; Chan, Chin-Hong

    2016-01-01

    Abstract Recurrent manic-like episodes can be induced by hyponatremia possibly due to empty sella syndrome. In the present case, the patient was proven to have syndrome of inappropriate antidiuretic hormone (SIADH) secretion with manic symptoms that resolved after the normalization of the plasma sodium level. To our knowledge, this is the first case of hyponatremia-induced manic symptoms in a patient with empty sella syndrome. More attention should be paid to late-onset mania, because it may be the sign of a more serious medical problem. PMID:26871784

  18. The transition of adult patients with childhood-onset chronic diseases from pediatric to adult healthcare systems: a survey of the perceptions of Japanese pediatricians and child health nurses

    PubMed Central

    2012-01-01

    Background Advances in medical science have enabled many children with chronic diseases to survive to adulthood. The transition of adult patients with childhood-onset chronic diseases from pediatric to adult healthcare systems has received attention in Europe and the United States. We conducted a questionnaire survey among 41 pediatricians at pediatric hospitals and 24 nurses specializing in adolescent care to compare the perception of transition of care from pediatric to adult healthcare services for such patients. Findings Three-fourths of the pediatricians and all of the nurses reported that transition programs were necessary. A higher proportion of the nurses realized the necessity of transition and had already developed such programs. Both pediatricians and nurses reported that a network covering the transition from pediatric to adult healthcare services has not been established to date. Conclusions It has been suggested that spreading the importance of a transition program among pediatricians and developing a pediatric-adult healthcare network would contribute to the biopsychosocial well-being of adult patients with childhood-onset chronic disease. PMID:22433283

  19. Tufted Angioma of Eyelid in an Adult - A Case Report

    PubMed Central

    Singh, Anshul; Misra, Vatsala; Singh, S. P.

    2016-01-01

    Tufted Angiomas also known as angioblastomas /Angioblastoma of Nagakawa are rare vascular neoplasms localised to the skin and subcutaneous tissues with the upper trunk and neck being most common sites. They are mainly seen in children but a few cases in juveniles and adults have been reported. We hereby report this case, a 40-year-old male who presented with a right lower lid, painless, slowly progressive, firm swelling diagnosed as Tufted Angioma on histopathology and immunohistochemistry. PMID:27504301

  20. World Perspective Case Descriptions on Educational Programs for Adults: India.

    ERIC Educational Resources Information Center

    Jayagopal, R.; Burns, E. P.

    Four adult education programs being conducted in India are described in the case studies in this packet. Two of the projects involve literacy; the third promotes literacy as one part of its community development program, and the fourth trains workers in hotel management and catering technology. The literacy programs are (1) development of a…

  1. Playing the Literacy Game: A Case Study in Adult Education

    ERIC Educational Resources Information Center

    Kambouri, Maria; Thomas, Siobhan; Mellar, Harvey

    2006-01-01

    Runner is a high-quality educational game designed by the University for Industry (UfI/"learndirect") to attract young adults who find learning in formal educational contexts difficult. A case study evaluation of this novel application of an adventure game genre to literacy learning is discussed, based on observations and interviews in…

  2. Case Studies of Action Research in Various Adult Education Settings.

    ERIC Educational Resources Information Center

    Kuhne, Gary W.; Weirauch, Drucie; Fetterman, David J.; Mearns, Raiana M.; Kalinosky, Kathy; Cegles, Kathleen A.; Ritchey, Linda

    1997-01-01

    Six case studies illustrate action research in adult education: faculty development in a museum, participation in a church congregation, retention of literacy volunteers in a corrections center, learner participation in a homeless shelter, technology innovation in a university, and infection control in a hospital. (SK)

  3. Negotiating Inequality among Adult Siblings: Two Case Studies

    ERIC Educational Resources Information Center

    Connidis, Ingrid Arnet

    2007-01-01

    Qualitative instrumental case study analysis of adult siblings from 2 families explores how socioeconomic inequality among them affects their relationships to one another. Eight middle-aged siblings' observations of childhood, parental expectations, work and family history, lifestyle, and current sibling ties indicate that childhood…

  4. World Perspective Case Descriptions on Educational Programs for Adults: Australia.

    ERIC Educational Resources Information Center

    O'Neill, Barry; And Others

    This document contains 24 case studies of adult education in Australia: (1) N.S.W. (New South Wales) Department of Agriculture Home Study Program (O'Neill); (2) Increasing Citizen Participation in Local Government (Holderness-Roddam); (3) School for Seniors (Benham and Vickers); (4) Community Living Project (Bleechmore); (5) Learning for the Less…

  5. Adult-Child Incest: A Sample of Substantiated Cases.

    ERIC Educational Resources Information Center

    Vander Mey, Brenda J.; Neff, Ronald L.

    1984-01-01

    Describes adult-child incest involving 16 victims. Cases were analyzed and discussed in relationship to previous studies. Emphasis is placed on replicated and newly identified risk factors including alcohol dependency, spouse abuse, other (nonsexual) child abuse or neglect, inadequate housing, social isolation, birth order, and other family…

  6. Delayed onset of posterior reversible encephalopathy syndrome in a case of scleroderma renal crisis with maintenance hemodialysis

    PubMed Central

    Chen, Ching-Yang; Hung, Shin-Yuan; Lee, Yi-Jer; Lin, Yi-Chan; Pai, Chu-Cheng

    2016-01-01

    Abstract Introduction: In some cases, scleroderma renal crisis (SRC) is not easily distinguishable from other thrombotic microangiopathies such as thrombotic thrombocytopenic purpura, especially when the presentation includes neurological or extra-renal manifestations. Here, we present a case of SRC who developed a rare neurotoxic complication, posterior reversible encephalopathy syndrome (PRES). A 36-year-old man with a history of diffuse cutaneous systemic sclerosis developed SRC and acute-on-chronic renal failure and ultimately required maintenance hemodialysis. Three weeks after starting hemodialysis, the patient presented with confusion and a new-onset seizure disorder. Laboratory examinations revealed thrombocytopenia, a low haptoglobin level, and schizocytes on a blood smear. SRC-related PRES was considered first after PRES was confirmed by brain magnetic resonance imaging. Antihypertensive therapy comprising captopril and amlodipine was administered, and the patient experienced a complete neurological recovery 3 days later without plasma exchange. In all previously reported cases of SRC-associated PRES, PRES developed before hemodialysis. Our report is, therefore, the first to describe a case of onset of SRC-related PRES 3 weeks after the initiation of maintenance hemodialysis. Conclusion: This case demonstrates that microangiopathy and extra-renal manifestations can develop even in SRC patients with end-stage renal disease and that these manifestations can be successfully managed with angiotensin-converting enzyme inhibitors (ACEIs) and aggressive blood pressure control. We recommend continuing ACEI therapy if elevated blood pressure persists after maintenance hemodialysis. PMID:28033278

  7. Early life loss and trauma: eating disorder onset in a middle-aged male--a case study.

    PubMed

    McCormack, Lynne; Lewis, Vivienne; Wells, Jonathan R

    2014-03-01

    The onset of an eating disorder in middle-age men is poorly researched as are eating disorders in men generally. Therefore, life events that influence eating disorders in men, including delayed onset of an eating disorder remains unknown. Given the limited understanding of males with eating disorders and limited access to large samples of men with eating disorders, an in-depth analysis of a single case of a male in middle age with an eating disorder was chosen to gain insight and understanding into this phenomenon. A Life History approach explored the case of Joseph (pseudonym), who was diagnosed at age 44 years with an Eating Disorder Not Otherwise Specified. Data were collected through (a) life course open-ended questioning through interviews, (b) written statements, and (c) comments on transcripts. Three themes emerged, loss and unworthiness, becoming bigger, and wanting to change reflecting eating behaviors associated with attachment disruption, loss and trauma, body dissatisfaction, and negative affect. Later in life, an emotional "tipping point" precipitated an eating disorder. Results indicate traumatic loss leading to early attachment disruption as influential in Joseph's delayed onset of an eating disorder. The value of thorough narrative life histories during therapy when eating disorders occur late in life is discussed as well as the significance for men.

  8. Observational clinical study of 22 adult-onset Pompe disease patients undergoing enzyme replacement therapy over 5years.

    PubMed

    Stepien, Karolina M; Hendriksz, Christian J; Roberts, Mark; Sharma, Reena

    2016-04-01

    Pompe disease is an autosomal recessive disease resulting from deficiency of the acid alpha-glucosidase (GAA). The late-onset Pompe Disease (LOPD) patients develop muscular and respiratory complications later in life. We describe a retrospective observational cohort study including 22 patients with LOPD. The cohort was assessed at baseline before Enzyme Replacement Therapy (ERT) with alglucosidase alpha (20mg/kg biweekly) was commenced and subsequently relevant information was collected at 2, 4 and 5years later. The median age of the patients at study entry was 44years (16-64years), with median disease duration of 11.5years (4-31years). At baseline, 10 patients (45%) could walk without support, 12 (55%) could walk with unilateral or bilateral support including 3/12 were wheelchair bound. Mean predicted FVC % was 55.7 (95% CI 45-66) of predicted normal at baseline and showed no significant change after 5years (54.6 (95% CI 43-66)), (all p=0.9815). Mean FVC % supine was 41.8 (95% CI 33.8-49) of predicted normal at baseline and remained significantly unchanged at 5years (48.4 (95% CI 37-59.6)), (all p=0.8680). The overnight non-invasive ventilator dependence increased by 18.2% as compared with baseline and requirement of mobility aids increased during this period by 5.2% as compared with the baseline. Mean walking distance at 6min walk test was 411.5 (95% CI 338-485) at baseline, 266.5 (95% CI 187-346) m at 2years, 238.6 (95% CI 162-315) m at 4years and 286.8 (95% CI 203-370) m at 5years (p=0.1981; ANOVA was completed only for 14 patients). A gradual decline in FVC% predicted was noted only in four cases and a decline in FVC% supine in two other. Only one patient showed a decline in both pulmonary function tests. In all remaining cases (17/22) respiratory function remains stable. In conclusion overall pulmonary function tests and mobility remained stable for 5years in majority of patients on ERT. However, in some patients they continued to decline in spite of ERT

  9. Adult Multicystic Nephroma: Case Report and Review of the Literature

    PubMed Central

    Capar, Erdem; Ucar, Bercis Imge; Deger, Hakki; Tayfur, Mahir

    2015-01-01

    Multicystic nephroma (MCN) is relatively a rare, nongenetic and benign lesion of the kidney which has a bimodal distribution. The congenital form is commonly seen under the age of 2. Adult-onset MCN is more often seen in women, especially in post menopausal females. The aetiopathogenesis of MCN is still unknown. Ovarian-like stroma of the tumour indicates the tumour originates from the mullerian tissue of the kidney. Hormonal theory is suggestive as the stroma of the tumour is positive for estrogen and progesteron. Preoperative diagnosis of MCN is difficult. Surgical approach is recommended both for the histological diagnosis and the treatment of the disease. We here present a 53-year-old female patient with MCN admitted to the urology clinic with left flank pain treated successfully with partial nephrectomy. No recurrence was noted after six months of clinical and radiological follow-up. PMID:26435961

  10. Gender specific associations between types of childhood maltreatment and the onset, escalation and severity of substance use in cocaine dependent adults.

    PubMed

    Hyman, Scott M; Garcia, Miguel; Sinha, Rajita

    2006-01-01

    We examined associations between types of childhood maltreatment and the onset, escalation, and severity of substance use in cocaine dependent adults. In men (n = 55), emotional abuse was associated with a younger age of first alcohol use and a greater severity of substance abuse. In women (n = 32), sexual abuse, emotional abuse, and overall maltreatment was associated with a younger age of first alcohol use, and emotional abuse, emotional neglect, and overall maltreatment was associated with a greater severity of substance abuse. There was no association between childhood maltreatment and age of nicotine or cocaine use. However, age of first alcohol use predicted age of first cocaine use in both genders. All associations were stronger in women. Findings suggest that early intervention for childhood victims, especially females, may delay or prevent the early onset of alcohol use and reduce the risk for a more severe course of addiction.

  11. Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia Caused by a Novel R782G Mutation in CSF1R

    PubMed Central

    Foulds, Nicola; Pengelly, Reuben J.; Hammans, Simon R.; Nicoll, James A. R.; Ellison, David W.; Ditchfield, Adam; Beck, Sarah; Ennis, Sarah

    2015-01-01

    We report a new family with autosomal dominant inheritance of a late onset rapidly progressive leukodystrophy in which exome sequencing has revealed a novel mutation p.R782G in the Colony-Stimulating Factor 1 Receptor gene (CSF1R). Neuropathology of two affected family members showed cerebral white matter degeneration with axonal swellings and pigmented macrophages. The few recently reported families with CSF1R mutations had been previously labelled “hereditary diffuse leukencephalopathy with axonal spheroids” (HDLS) and “pigmentary orthochromatic leukodystrophy” (POLD), disorders which now appear to form a disease continuum. The term “adult-onset leukoencephalopathy with axonal spheroids and pigmented glia” (ALSP) has been proposed to encompass this spectrum. As CSF1R regulates microglia this mutation implies that dysregulation of microglia is the primary cause of the disease. PMID:25975230

  12. Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia Caused by a Novel R782G Mutation in CSF1R.

    PubMed

    Foulds, Nicola; Pengelly, Reuben J; Hammans, Simon R; Nicoll, James A R; Ellison, David W; Ditchfield, Adam; Beck, Sarah; Ennis, Sarah

    2015-05-15

    We report a new family with autosomal dominant inheritance of a late onset rapidly progressive leukodystrophy in which exome sequencing has revealed a novel mutation p.R782G in the Colony-Stimulating Factor 1 Receptor gene (CSF1R). Neuropathology of two affected family members showed cerebral white matter degeneration with axonal swellings and pigmented macrophages. The few recently reported families with CSF1R mutations had been previously labelled "hereditary diffuse leukencephalopathy with axonal spheroids" (HDLS) and "pigmentary orthochromatic leukodystrophy" (POLD), disorders which now appear to form a disease continuum. The term "adult-onset leukoencephalopathy with axonal spheroids and pigmented glia" (ALSP) has been proposed to encompass this spectrum. As CSF1R regulates microglia this mutation implies that dysregulation of microglia is the primary cause of the disease.

  13. Perioperative considerations in adult mitochondrial disease: A case series and a review of 111 cases.

    PubMed

    Miyamoto, Yuri; Miyashita, Tetsuya; Takaki, Shunsuke; Goto, Takahisa

    2016-01-01

    Mitochondrial disease has been uncommon conditions, still results in death during childhood in many cases. The ideal anesthetic pharmacological management strategy for adult patients with mitochondrial disease is currently unclear. In this study, we presented features of the anesthesia methods employed and the perioperative complications of patients in our institution and in previously published case reports. We report the use of general anesthesia 7 times in 6 adult patients with mitochondrial disease during 2004-2014. All cases were performed with maintained intravenous anesthesia. One case was reintubated on the day after surgery, but the cause of death was not directly related to anesthesia. One hundred and eleven general anesthesia cases in 97 adult patients with mitochondrial disease were described in 83 the literature. Although several severe perioperative complications and deaths have been reported, malignant hyperthermia had not been reported in adult cases, and metabolic disorder called propofol infusion syndrome had also not been reported in adult patients undergone total intravenous anesthesia. Perioperative complications of lactic acidosis were reported more in inhalation anesthesia than intravenous anesthesia. Therefore we recommended intravenous anesthesia rather than inhalation anesthesia for adult mitochondrial disease.

  14. Adversities in Childhood and Adult Psychopathology in the South Africa Stress and Health Study: Associations with First-Onset DSM-IV Disorders

    PubMed Central

    Slopen, Natalie; Williams, David R.; Seedat, Soraya; Moomal, Hashim; Herman, Allen; Stein, Dan J.

    2010-01-01

    Extensive epidemiologic research from the United States demonstrates that childhood adversities (CAs) are predictive of several psychiatric outcomes, including depression, anxiety, substance abuse, and externalizing disorders. To date, this has not been explored in a national sample of adults in South Africa. The present study examined the joint predictive effects of 11 retrospectively reported CAs on the first onset of DSM-IV disorders in the South Africa Stress and Health Study (SASH), a nationally representative sample of adults. We utilized substantively plausible regression models of joint CA effects that account for the comorbidity between individual CAs; outcomes included DSM-IV anxiety disorders, mood disorders, substance use disorders, and externalizing disorders measured with the WHO Composite International Diagnostic Interview. The results indicated that experiences of CA varied by race, and many CAs were correlated with one another. The best-fitting model for first onset of any disorder included separate indicators for each type of CA, in addition to indicator variables for the number of other CAs reported. Results disaggregated by class of disorder showed that the majority of CAs with significant odds ratios only predicted anxiety disorder. Results disaggregated by life course stage of first onset showed that significant effects of CAs can be observed at each stage of the life course. This study contributes to a growing body of research on the social determinants of mental health in South Africa. Our findings illustrate the importance of utilizing a model that accounts for the clustering and accumulation of CAs, and suggest that a variety of CAs predict onset of mental disorders, particularly anxiety disorders, at several stages of the life course. PMID:20870332

  15. Adversities in childhood and adult psychopathology in the South Africa Stress and Health Study: associations with first-onset DSM-IV disorders.

    PubMed

    Slopen, Natalie; Williams, David R; Seedat, Soraya; Moomal, Hashim; Herman, Allen; Stein, Dan J

    2010-11-01

    Extensive epidemiologic research from the United States demonstrates that childhood adversities (CAs) are predictive of several psychiatric outcomes, including depression, anxiety, substance abuse, and externalizing disorders. To date, this has not been explored in a national sample of adults in South Africa. The present study examined the joint predictive effects of 11 retrospectively reported CAs on the first onset of DSM-IV disorders in the South Africa Stress and Health Study (SASH), a nationally representative sample of adults. We utilized substantively plausible regression models of joint CA effects that account for the comorbidity between individual CAs; outcomes included DSM-IV anxiety disorders, mood disorders, substance use disorders, and externalizing disorders measured with the WHO Composite International Diagnostic Interview. The results indicated that experiences of CA varied by race, and many CAs were correlated with one another. The best-fitting model for first onset of any disorder included separate indicators for each type of CA, in addition to indicator variables for the number of other CAs reported. Results disaggregated by class of disorder showed that the majority of CAs with significant odds ratios only predicted anxiety disorder. Results disaggregated by life course stage of first onset showed that significant effects of CAs can be observed at each stage of the life course. This study contributes to a growing body of research on the social determinants of mental health in South Africa. Our findings illustrate the importance of utilizing a model that accounts for the clustering and accumulation of CAs, and suggest that a variety of CAs predict onset of mental disorders, particularly anxiety disorders, at several stages of the life course.

  16. Disturbed sleep as risk factor for the subsequent onset of bipolar disorder--Data from a 10-year prospective-longitudinal study among adolescents and young adults.

    PubMed

    Ritter, Philipp S; Höfler, Michael; Wittchen, Hans-Ulrich; Lieb, Roselind; Bauer, Michael; Pfennig, Andrea; Beesdo-Baum, Katja

    2015-09-01

    There is ample data suggesting that individuals with bipolar disorder more frequently suffer from disturbed sleep even when euthymic. Since sleep is a process that is crucial for affective homeostasis, disturbed sleep in healthy individuals may be a risk factor for the subsequent onset of bipolar disorder. Utilizing data from a large cohort of adolescents and young adults, this study tests the hypothesis that disturbed sleep constitutes a risk factor for the later onset of bipolar disorder. A representative community sample of N = 3021 adolescents and young adults (baseline age 14-24) was assessed using the standardized Composite International Diagnostic Interview and followed-up prospectively up to 3 times over up to 10 years. Disturbed sleep at baseline was quantified utilizing the corresponding items from the self-report inventory SCL-90-R. The compound value (insomnia-score) as an ordinal parameter for the severity of sleep disturbances was used to assess associations with the incidence of bipolar disorder among participants free of major mental disorder at baseline (N = 1943) using odds ratios (OR) from logistic regressions. Analyses were adjusted for age, gender, parental mood disorder and lifetime alcohol or cannabis dependence. Poor sleep quality significantly increased the risk for the subsequent development of bipolar disorder (OR = 1.75; p = 0.001). Regarding individual sleep items, trouble falling asleep and early morning awakening were predictive for the subsequent onset of bipolar disorder. Disturbed sleep in persons otherwise free of major mental disorders appears to confer an increased risk for the subsequent onset of bipolar disorder.

  17. The onset of Fas expression parallels the acquisition of CD8 and CD4 in fetal and adult alpha beta thymocytes.

    PubMed

    Andjelić, S; Drappa, J; Lacy, E; Elkon, K B; Nikolić-Zugić, J

    1994-01-01

    Fas is an apoptosis-related cell surface molecule whose defective transcription results in the lpr defect and autoimmunity. Recent analysis of Fas mRNA and protein expression in normal mice showed high expression in the thymus, on activated T cells, and on 5-10% of peripheral T cells. To investigate the role of Fas in the thymus, we analyzed its expression in fetal and adult thymocyte subsets. Fas was not expressed on fetal nor adult CD8-CD4- (double-negative, DN) T cell precursors. The earliest precursors that expressed low levels of FAS were the immediate precursors of DP thymocytes that bear the CD44-CD25-CD8loCD4loTCRlo phenotype. Other DN cells that expressed Fas appeared to be either non-T cells or mature alpha beta + DN thymocytes. The onset of Fas expression followed the onset of expression of CD8 and CD4 and Fas expression reached its peak in CD8+CD4+ double-positive (DP) thymocytes. Both single-positive (SP) subsets were largely Fas+ (CD8 SP < CD4 SP) but expressed lower levels of Fas than DP cells. However, a majority (> 60%) of the most mature HSA(lo) SP cells (2-5% of all SP thymocytes) were Fas- and the remainder of the HSA(lo) SP cells was Fas(lo). We observed two main differences between Fas expression on fetal versus adult thymocytes. First, up to 90% of fetal gamma delta + DN cells expressed high levels of Fas, in contrast to the very low expression (< 7% Fas+ cells) among adult gamma delta + thymocytes. Second, whereas virtually all adult DP cells were Fas+, up to 75% of fetal day 16 DP cells were Fas-.(ABSTRACT TRUNCATED AT 250 WORDS)

  18. Azelaic acid in the treatment of acne in adult females: case reports.

    PubMed

    Vargas-Diez, E; Hofmann, M A; Bravo, B; Malgazhdarova, G; Katkhanova, O A; Yutskovskaya, Y

    2014-01-01

    Acne, one of the most common skin problems in dermatological practice, is a condition that affects not only adolescents but also adults. While approximately 80% of cases occurring in adulthood are persistent from teenage years, around 20% are described as 'late-onset' disease, appearing for the first time in adulthood. The disease can be triggered by hormonal changes (including a change from one contraceptive to another), or it can be induced by certain nonhormonal medications, emotional stress, and various underlying diseases such as polycystic ovary syndrome. In many cases acne becomes a chronic skin condition with undulating activity, including improvement and relapse phases, and is often experienced as a major psychological burden. It is, therefore, even more important to provide an effective as well as a safe and tolerable treatment. The spectrum of topical acne treatments has expanded substantially in recent years and various topical medications are available, ranging from azelaic acid, antibiotics, retinoids and benzoyl peroxide to several fixed combinations of these active compounds. The following case collection illustrates how 15% azelaic acid gel, as a well-established monotherapy, can be successfully employed to treat mild-to-moderate forms of adult female acne.

  19. Familial late-onset Alzheimer's disease: description of an Italian family with four affected siblings and one case of early-onset dementia in the preceding generation.

    PubMed

    Abbate, Carlo; Arosio, Beatrice; Cantatore, Alessandra; Viti, Niccolò; Giunco, Fabrizio; Bagarolo, Renzo; Nicolini, Paola; Gussago, Cristina; Ferri, Evelyn; Casati, Martina; Rossi, Paolo Dionigi; Casè, Alessandra; Bergamaschini, Luigi; Vergani, Carlo; Mari, Daniela

    2016-10-01

    We describe a family composed of six siblings, four of which affected by late-onset Alzheimer's disease (LOAD). We constructed the family pedigree, evaluated mutations usually associated with early-onset Alzheimer's disease (APP, PSEN1, PSEN2), and assessed polymorphisms in the apolipoprotein E (APOE) gene and in cytokine genes that we had previously found to be associated with a higher risk of LOAD (IL-10, IL-6, TNF-α). Results showed that all subjects carried one ε4 allele of the APOE gene and those with the earliest age of onset exhibited the AA (-1082) IL-10 and the CC (-174) IL-6 genotypes. The only male had a genetic profile which also included the A (-308) TNF-α allele. These data confirm the role of the APOE gene as genetic risk factor in LOAD, and suggest that the risk of developing AD may be governed by a "susceptibility profile" involving polymorphisms in inflammatory genes.

  20. Anti-Ge3 causes late-onset hemolytic disease of the newborn: the fourth case in three Hispanic families

    PubMed Central

    Pate, Lisa Lee; Myers, Jessica C.; Palma, Jonathan P.; Viele, Maurene; Galel, Susan A.; Ferrer, Zenaida; Gonzalez, Christopher L.; Benitz, William E.; Garratty, George; Fontaine, Magali J.

    2016-01-01

    BACKGROUND The Gerbich (Ge) blood group system consists of 11 antigens carried on red blood cell (RBC) membrane glycophorins C and D; of these, Ge:3 antigen is of high prevalence, and the anti-Ge3 is found to be clinically significant. CASE REPORT A 34-week neonate born to a Hispanic mother with anti-Ge3 developed late-onset hemolysis with hyperbilirubinemia and was successfully treated with transfusions from her mother. Relevant clinical findings and laboratory results for this case are summarized and compared to three other previously reported cases; all babies were born from a mother of Hispanic ethnicity. CONCLUSION Hemolytic disease of the fetus and new born associated with anti-Ge3 is rare but should be considered when working up a broadly reactive RBC antibody screen in women of Hispanic ethnicity. Early identification of pregnant women with anti-Ge3 is recommended for prenatal transfusion planning and close monitoring of the newborn infant for evidence of late-onset anemia. PMID:23241141

  1. [A CASE OF NATTOU (FERMENTED-SOYBEAN)-INDUCED LATE-ONSET ANAPHYLAXIS FOLLOWING SCUBA DIVING].

    PubMed

    Nagakura, Toshikazu; Tanaka, Katsuichirou; Horikawa, Satoshi

    2015-06-01

    We here report a 34-years old male who had nattou-(fermented-soybean) induced late-onset anaphylaxis following SCUBA diving to about 20 m in the ocean off a small remote Japanese island (Kuroshima, Okinawa). He had eaten nattou for breakfast at 7:30 am. He traveled by boat to the dive site, dove twice and then ate lunch at 12:30 on the diving boat (no nattou at lunch). After lunch at 14:30 he dove again (third dive of the day) during which time itchiness started. Back on the diving boat, urticarial was noticed. At 15:30, while washing his diving gear at the diving shop near the harbor, he fainted. A physician arrived on the scene at 15:45. Chest sound was clear and SpO2 was 98%, and blood pressure was 60/- mmHg. Intra-venous hydrocortisone was given, however, his recovery was not satisfactory. Then he was transferred to the Yaeyama Hospital by helicopter at 17:45. The examination of diving computer analysis reveals no sign of increased residual nitrogen, denying the possibility of decompression syndrome. Prick to prick test shows a strongly positive response to nattou. Nattou-induced late-onset anaphylaxis following SCUBA diving was suspected.

  2. Post-radioiodine De Novo Onset Graves' Ophthalmopathy: Case Reports and a Review of the Literature.

    PubMed

    Batra, Ruchika; Krishnasamy, Senthil Kumar; Buch, Harit; Sandramouli, Soupramanien

    2015-05-01

    New-onset Graves' ophthalmopathy (GO) following radioiodine treatment (RAI) and worsening of existing GO are well-described in the endocrinology literature. These phenomena are recognized by ophthalmologists, yet poorly documented in the ophthalmology literature. Two male patients, aged 43 and 62 years, respectively, with Graves' disease without GO, received RAI. Four months later, one patient developed acute GO with unilateral reduction in visual acuity, conjunctival chemosis, lagophthalmos, bilateral severely restricted ocular motility, and lid retraction. High-dose intravenous steroids, followed by oral steroids, led to a dramatic clinical improvement. The second patient received a second dose of RAI for persistent hyperthyroidism and subsequently developed acute GO-comprising restricted ocular motility, peri-orbital swelling, and conjunctival chemosis. Symptoms gradually resolved on continued carbimazole treatment. Neither patient received pre-RAI prophylactic glucocorticoids, as currently they are only recommended for patients with pre-existing GO or multiple risk factors. We discuss the limitations of using this risk-based approach in preventing new-onset GO following RAI therapy.

  3. Idiopathic pulmonary hemosiderosis presenting in an adult: A case report and review of the literature

    PubMed Central

    Sherani, Khalid M.; Upadhyay, Hinesh N.; Sherani, Farha K.; Vakil, Abhay P.; Sarkar, Samir S.

    2015-01-01

    Diffuse alveolar hemorrhage (DAH) is characterized by the presence of hemoptysis, anemia, and the presence of diffuse parenchymal infiltrates on imaging studies. Idiopathic pulmonary hemosiderosis (IPH) is an uncommon cause of diffuse alveolar hemorrhage (DAH) and is classically known to present in childhood. Adult-onset IPH is extremely rare. We report the case of a 48-year-old female patient who presented with hemoptysis and acute hypoxic respiratory failure, requiring intubation and mechanical ventilation. Imaging studies showed diffuse bilateral patchy infiltrates. Bronchoalveolar lavage (BAL) confirmed the diagnosis of DAH. Extensive workup including video-assisted thoracoscopic surgical lung biopsy (VATS) failed to reveal any vasculitis, infectious, immunological or connective tissue disorder, as the underlying cause for DAH. The patient was successfully treated with high-dose steroid therapy. PMID:26180395

  4. The influence of transportation, proximity of adults and other stimuli on the age of onset of first puberty in the gilt.

    PubMed

    Stephens, D B; Close, W H

    1984-07-01

    Four series of experiments involving 44 animals were carried out to investigate the influence of transportation, proximity of sexually mature adults and other stimuli on the onset of puberty in the gilt. Transportation per se, either real or simulated, did not induce early puberty in the gilt. In contrast, the most effective stimulus was provided by accommodating the gilts in pens adjacent to mature breeding stock. Gilts housed in a sow yard exhibited oestrus when aged between 153 and 184 days, i.e. 4-6 weeks after the beginning of the experiment. This compares with 189 to 227 days, i.e. 9-12 weeks after the start of the experiment for those gilts not housed adjacent to adult stock.

  5. The first case of adult-onset PFAPA syndrome in Japan.

    PubMed

    Kutsuna, Satoshi; Ohmagari, Norio; Tanizaki, Ryutaro; Hagino, Noboru; Nishikomori, Ryuta; Ujiie, Mugen; Takeshita, Nozomi; Hayakawa, Kayoko; Kato, Yasuyuki; Kanagawa, Shuzo

    2016-01-01

    A 26-year-old woman presented with fever and pharyngitis. She previously experienced four periodic febrile episodes at 30- to 40-day intervals. We suspected periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome, and prescribed predisolone, thereby her fever rapidly subsided. Her febrile episodes improved after daily cimetidine treatment. Genetic testing results of genomic DNA for periodic fever syndromes were negative, although she was heterozygous for p.Glu148Gln variation in MEFV, supporting the diagnosis of PFAPA syndrome.

  6. Adult-onset deficiency of acyl CoA:monoacylglycerol acyltransferase 2 protects mice from diet-induced obesity and glucose intolerance[S

    PubMed Central

    Banh, Taylor; Nelson, David W.; Gao, Yu; Huang, Ting-Ni; Yen, Mei-I; Yen, Chi-Liang E.

    2015-01-01

    Acyl-CoA:monoacylglycerol acyltransferase (MGAT) 2 catalyzes triacylglycerol (TAG) synthesis, required in intestinal fat absorption. We previously demonstrated that mice without a functional MGAT2-coding gene (Mogat2−/−) exhibit increased energy expenditure and resistance to obesity induced by excess calories. One critical question raised is whether lacking MGAT2 during early development is required for the metabolic phenotypes in adult mice. In this study, we found that Mogat2−/− pups grew slower than wild-type littermates during the suckling period. To determine whether inactivating MGAT2 in adult mice is sufficient to confer resistance to diet-induced obesity, we generated mice with an inducible Mogat2-inactivating mutation. Mice with adult-onset MGAT2 deficiency (Mogat2AKO) exhibited a transient decrease in food intake like Mogat2−/− mice when fed a high-fat diet and a moderate increase in energy expenditure after acclimatization. They gained less weight than littermate controls, but the difference was smaller than that between wild-type and Mogat2−/− mice. The moderate reduction in weight gain was associated with reduced hepatic TAG and improved glucose tolerance. Similar protective effects were also observed in mice that had gained weight on a high-fat diet before inactivating MGAT2. These findings suggest that adult-onset MGAT2 deficiency mitigates metabolic disorders induced by high-fat feeding and that MGAT2 modulates early postnatal nutrition and may program metabolism later in life. PMID:25535286

  7. New onset somnambulism associated with different dosage of mirtazapine: a case report.

    PubMed

    Yeh, Yi-Wei; Chen, Chun-Hsiung; Feng, Hui-Ming; Wang, Sheng-Chiang; Kuo, Shin-Chang; Chen, Chih-Kang

    2009-01-01

    Somnambulism consists of variously complex behaviors that may result in harm to self or to others. Many different medications have been reported to induce somnambulism, and a few of them are newer antidepressants. A 40-year-old woman with history of major depression who experienced new onset somnambulism for successive 3 nights, whereas the antidepressant mirtazapine was increased from 30 to 45 mg/d. The notable and complex sleepwalking symptoms terminated dramatically on the first night after withdrawal of mirtazapine. There is clearly a cause-and-effect relationship between the treatment of higher-dosage mirtazapine and development of somnambulism. It might be related to the different affinities to 5-hydroxytryptamine 2 (5-HT(2)) and H(1) receptors at different dosages of mirtazapine, which explain the patient experiencing sleepwalking episodes exclusively at higher doses of mirtazapine. Clinical physicians should be aware of this adverse effect and taper or discontinue the regimen if sleepwalking develops.

  8. [Bolande tumor in adults: apropos of a case].

    PubMed

    el Mrini, M; Debbagh, A; Hafiani, M; Aboutaieb, R; Bennani, S; Benjelloun, S

    1998-02-01

    Bolande's tumour or congenital mesoblastic nephroma is essentially a tumour of infants under the age of one year and is rare in adults, in whom only 10 cases have been described. The authors report the 11th case in a 30-year-old woman, in whom a right renal tumour was discovered during ultrasonography at 34 weeks of pregnancy. Radical nephrectomy was performed after delivery, with a favourable course at 3 years, with no recurrence or metastasis. The aetiopathogenic and diagnostic aspects are discussed, with emphasis on the possibility of a hormonal inducing factor in the histogenesis of this tumour.

  9. Congenital encephalomyopathy and adult-onset myopathy and diabetes mellitus: Different phenotypic associations of a new heteroplasmic mtDNA tRNA glutamic acid mutation

    SciTech Connect

    Hanna, M.G.; Nelson, I.; Sweeney, M.G.; Cooper, J.M.; Watkins, P.J.; Morgan-Hughes, J.A.; Harding, A.E.

    1995-05-01

    We report the clinical, biochemical, and molecular genetic findings in a family with an unusual mitochondrial disease phenotype harboring a novel mtDNA tRNA glutamic acid mutation at position 14709. The proband and his sister presented with congenital myopathy and mental retardation and subsequently developed cerebellar ataxia. Other family members had either adult-onset diabetes mellitus with muscle weakness or adult-onset diabetes mellitus alone. Ragged-red and cytochrome c oxidase (COX)-negative fibers were present in muscle biopsies. Biochemical studies of muscle mitochondria showed reduced complex I and IV activities. The mtDNA mutation was heteroplasmic in blood and muscle in all matrilineal relatives analyzed. Primary myoblast, but not fibroblast, cultures containing high proportions of mutant mtDNA exhibited impaired mitochondrial translation. These observations indicate that mtDNA tRNA point mutations should be considered in the differential diagnosis of congenital myopathy. In addition they illustrate the diversity of phenotypes associated with this mutation in the same family and further highlight the association between mtDNA mutations and diabetes mellitus. 43 refs., 4 figs., 1 tab.

  10. Vapor, Dust and Smoke Exposure in relation to adult-onset asthma and chronic respiratory symptoms: The Singapore Chinese Health Study

    PubMed Central

    LeVan, Tricia D.; Koh, Woon-Puay; Lee, Hin-Peng; Koh, David; Yu, Mimi C.; London, Stephanie J.

    2006-01-01

    Occupational factors contribute to a significant fraction of respiratory disease and symptoms. We evaluated the role of occupational exposures on asthma, chronic bronchitis, and respiratory symptoms in a population-based cohort, the Singapore Chinese Health Study. History of occupations, occupational exposures, and respiratory conditions were collected by interviews with 52,325 Singaporeans born 1918–1953. Exposure to dusts, from cotton, wood, metal, mineral and/or asbestos, was associated with non-chronic cough and/or phlegm (OR = 1.19, 95% CI = 1.08, 1.30), chronic bronchitis (OR = 1.26, 95% CI = 1.01, 1.57) and adult-onset asthma (OR = 1.14, 95% CI = 1.00, 1.30). Cotton dust was the major component contributing to respiratory symptoms. Vapor exposure, from chemical solvents, dyes, cooling oils, paints, wood preservatives and/or pesticides, was associated with non-chronic cough or phlegm (OR = 1.14, 95% CI = 1.03, 1.27), chronic dry cough (OR = 1.55, 95% CI = 1.19, 2.01) and adult-onset asthma (OR = 1.34, 95% CI = 1.15, 1.56). Chemical solvents, cooling oils and pesticides were the major sources contributing to respiratory symptoms. These data support the role of occupational exposures in the etiology of respiratory illness in a population-based cohort in Singapore with a low prevalence of atopic illness. PMID:16707657

  11. Coping efforts and resilience among adult children who grew up with a parent with young-onset dementia: a qualitative follow-up study

    PubMed Central

    Johannessen, Aud; Engedal, Knut; Thorsen, Kirsten

    2016-01-01

    Background It is estimated that one in four persons with young-onset dementia (YOD) (<65 years old) has children younger than 18 years old at the onset of the dementia. These children experience a childhood different from what is expected. Adult children of parents with YOD are seldom addressed in research, and the impact of the dementia on the children's development over time has rarely been studied. Aim The goal of this study was to explore how adult children experienced the influence of their parents’ dementia on their own development during adolescence; what coping efforts, strategies, and resources they employed; and how they evaluated the most recent changes in their life situation. Method A follow-up, grounded theory approach in two phases was used. Qualitative interviews with 14 informants (18–30 years of age) were conducted in 2014 and one year later, in 2015. Findings Nearly all the informants expressed that their emotional well-being and their life situation were better at the second interview compared to the time of dementia onset in their parents. To overcome the difficulties of being a child of a parent with YOD, they used different instrumental, cognitive, and emotional coping strategies, subsumed analytically under the concept detachment. This category covers three subcategories of coping strategies: moving apart, greater personal distance, and calmer emotional reactions. Another category, resilience, designates combinations of the coping strategies. Vital for the development of coping resources and resilience was the need the informants had for social support—for people they saw who listened to them and responded to their needs. Conclusion Most of the informants reported that they experienced a better life situation and less emotional stress over time as their parent's dementia progressed. They developed better coping capacities and greater resilience. Vital for the development of coping resources and resilience was the need the informants

  12. Making the Case--Adult Education & Literacy: Key to America's Future.

    ERIC Educational Resources Information Center

    Council for Advancement of Adult Literacy, New York, NY.

    This publication is comprised of case statements of 14 attendees at an invitational meeting at the Council for Advancement of Adult Literacy and other adult educators. Offered as an advocacy tool for the field, these case statements represent short statements making the case for adult education and literacy; are the products of national leaders…

  13. Two-year seizure reduction in adults with medically intractable partial onset epilepsy treated with responsive neurostimulation: Final results of the RNS System Pivotal trial

    PubMed Central

    Heck, Christianne N; King-Stephens, David; Massey, Andrew D; Nair, Dileep R; Jobst, Barbara C; Barkley, Gregory L; Salanova, Vicenta; Cole, Andrew J; Smith, Michael C; Gwinn, Ryder P; Skidmore, Christopher; Van Ness, Paul C; Bergey, Gregory K; Park, Yong D; Miller, Ian; Geller, Eric; Rutecki, Paul A; Zimmerman, Richard; Spencer, David C; Goldman, Alica; Edwards, Jonathan C; Leiphart, James W; Wharen, Robert E; Fessler, James; Fountain, Nathan B; Worrell, Gregory A; Gross, Robert E; Eisenschenk, Stephan; Duckrow, Robert B; Hirsch, Lawrence J; Bazil, Carl; O'Donovan, Cormac A; Sun, Felice T; Courtney, Tracy A; Seale, Cairn G; Morrell, Martha J

    2014-01-01

    Objective To demonstrate the safety and effectiveness of responsive stimulation at the seizure focus as an adjunctive therapy to reduce the frequency of seizures in adults with medically intractable partial onset seizures arising from one or two seizure foci. Methods Randomized multicenter double-blinded controlled trial of responsive focal cortical stimulation (RNS System). Subjects with medically intractable partial onset seizures from one or two foci were implanted, and 1 month postimplant were randomized 1:1 to active or sham stimulation. After the fifth postimplant month, all subjects received responsive stimulation in an open label period (OLP) to complete 2 years of postimplant follow-up. Results All 191 subjects were randomized. The percent change in seizures at the end of the blinded period was −37.9% in the active and −17.3% in the sham stimulation group (p = 0.012, Generalized Estimating Equations). The median percent reduction in seizures in the OLP was 44% at 1 year and 53% at 2 years, which represents a progressive and significant improvement with time (p < 0.0001). The serious adverse event rate was not different between subjects receiving active and sham stimulation. Adverse events were consistent with the known risks of an implanted medical device, seizures, and of other epilepsy treatments. There were no adverse effects on neuropsychological function or mood. Significance Responsive stimulation to the seizure focus reduced the frequency of partial-onset seizures acutely, showed improving seizure reduction over time, was well tolerated, and was acceptably safe. The RNS System provides an additional treatment option for patients with medically intractable partial-onset seizures. PMID:24621228

  14. Adolescent Onset of Localized Papillomatosis, Lymphedema, and Multiple Beta-Papillomavirus Infection: Epidermal Nevus, Segmental Lymphedema Praecox, or Verrucosis? A Case Report and Case Series of Epidermal Nevi

    PubMed Central

    Kadam, Pooja; Rand, Janne; Rady, Peter; Tyring, Stephen; Stehlik, Jan; Sedivcova, Monica; Kazakov, Dmitry V.; Ray, Kathy; Hill, Jerome; Agag, Richard; Carlson, J. Andrew

    2014-01-01

    Herein, we report the case of a 12-year-old female who noted the recent onset of an oval, circumscribed, 10-cm papillomatous plaque affecting the thigh and vulva that showed histologic signs of lymphedema without evidence of secondary lymphedema. The sequencing of genes associated with a delayed onset of lymphedema or epidermal nevi (EN) – GATA2 and GJC2, and HRAS and KRAS, respectively – showed wild-type alleles. Polymerase chain reaction for human papillomavirus (HPV) DNA demonstrated infections with 15 HPV genotypes. Evidence of productive HPV infection, HPV capsid expression, and cytopathic changes was detected. At the 6-month follow-up, no evidence of recurrence was found after complete excision. The analysis of a consecutive series of 91 EN excision specimens revealed that 76% exhibited histologic evidence of lymphostasis. Notably, multiple acrochordon-like EN, which most closely resembled this case, showed similar signs of localized lymphedema. The late onset and evidence of lymphedema favors the diagnosis of congenital unisegmental lymphedema. However, the clinical findings and epidermal changes point to the diagnosis of EN. Moreover, localized verrucosis also accurately describes this patient's cutaneous findings. Based on the above evidence, we postulate that an abnormal development of lymphatics may play a primary role in the pathogenesis of some types of EN and facilitate productive HPV infection. PMID:27047923

  15. Phenotypic characterization of a Csf1r haploinsufficient mouse model of adult-onset leukodystrophy with axonal spheroids and pigmented glia (ALSP)

    PubMed Central

    Chitu, Violeta; Gokhan, Solen; Gulinello, Maria; Branch, Craig A.; Patil, Madhuvati; Basu, Ranu; Stoddart, Corrina; Mehler, Mark F.; Stanley, E. Richard

    2014-01-01

    Mutations in the colony stimulating factor-1 receptor (CSF1R) that abrogate the expression of the affected allele or lead to the expression of mutant receptor chains devoid of kinase activity have been identified in both familial and sporadic cases of ALSP. To determine the validity of the Csf1r heterozygous mouse as a model of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) we performed behavioral, radiologic, histopathologic, ultrastructural and cytokine expression studies of young and old Csf1r+/− and control Csf1r+/+ mice. Six to 8-month old Csf1r+/− mice exhibit cognitive deficits, and by 9-11 months develop sensorimotor deficits and in male mice, depression and anxiety-like behavior. MRIs of one year-old Csf1r+/− mice reveal lateral ventricle enlargement and thinning of the corpus callosum. Ultrastructural analysis of the corpus callosum uncovers dysmyelinated axons as well as neurodegeneration, evidenced by the presence of axonal spheroids. Histopathological examination of 11-week-old mice reveals increased axonal and myelin staining in the cortex, increase of neuronal cell density in layer V and increase of microglial cell densities throughout the brain, suggesting that early developmental changes contribute to disease. By 10-months of age, the neuronal cell density normalizes, oligodendrocyte precursor cells increase in layers II-III and V and microglial densities remain elevated without an increase in astrocytes. Also, the age-dependent increase in CSF-1R+ neurons in cortical layer V is reduced. Moreover, the expression of Csf2, Csf3, Il27 and Il6 family cytokines is increased, consistent with microglia-mediated inflammation. These results demonstrate that the inactivation of one Csf1r allele is sufficient to cause an ALSP-like disease in mice. The Csf1r+/− mouse is a model of ALSP that will allow the critical events for disease development to be determined and permit rapid evaluation of therapeutic approaches

  16. Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports.

    PubMed

    Brownstein, Catherine A; Kleiman, Robin J; Engle, Elizabeth C; Towne, Meghan C; D'Angelo, Eugene J; Yu, Timothy W; Beggs, Alan H; Picker, Jonathan; Fogler, Jason M; Carroll, Devon; Schmitt, Rachel C O; Wolff, Robert R; Shen, Yiping; Lip, Va; Bilguvar, Kaya; Kim, April; Tembulkar, Sahil; O'Donnell, Kyle; Gonzalez-Heydrich, Joseph

    2016-05-01

    Copy number variability at 16p13.11 has been associated with intellectual disability, autism, schizophrenia, epilepsy, and attention-deficit hyperactivity disorder. Adolescent/adult- onset psychosis has been reported in a subset of these cases. Here, we report on two children with CNVs in 16p13.11 that developed psychosis before the age of 7. The genotype and neuropsychiatric abnormalities of these patients highlight several overlapping genes that have possible mechanistic relevance to pathways previously implicated in Autism Spectrum Disorders, including the mTOR signaling and the ubiquitin-proteasome cascades. A careful screening of the 16p13.11 region is warranted in patients with childhood onset psychosis.

  17. Adult Neuroblastoma-Case Report and Literature Review

    PubMed Central

    Basade, Maheboob M; Khan, Kamran; Thorat, Kiran

    2016-01-01

    Neuroblastoma is the most common solid malignant neoplasm in the paediatric age group; accounting for 7% of all childhood malignancies, but neuroblastoma in adult, is a rare occurrence, finding mention in aeons of medical literature with an overall incidence of 1 in 10 million adults/year. We report the case of a 24-year-old male patient presenting with the complaints of progressive abdominal distention of 2 months duration. Multiple Detector Computed Tomography (MD-CT) of abdomen revealed a huge enhancing mass in the retroperitoneum abutting the left kidney, and a subsequent CT-guided biopsy and immunohistochemistry confirmed the diagnosis of ganglioneuroblastoma. The patient was administered 3-cycles of neo-adjuvant chemotherapy with ifosphamide, carboplatin and etoposide (ICE-chemotherapy) and subsequently 3 more cycles of chemotherapy post surgery, followed by radiation. The rarity of this neoplasm in adults accounts for the lack of standardized staging and treatment protocols and the dismal prognosis even with aggressive multimodal treatment. We report this case because of its extreme rarity, and its tendency for capricious behavior. PMID:28208865

  18. An adult case of oral infection with Kingella kingae.

    PubMed

    Van Damme, Ph A; van Herpen, C M L; Meis, J F G M

    2004-01-01

    An exceptional case of microbiologically confirmed oral infection with Kingella kingae in an immunocompetent adult (30-year-old woman) is presented and the pathogenesis is discussed and related to known literature data.K. kingae is a rather common but yet relatively unknown commensal corroding bacterium from the oro- and nasopharynx in healthy children, which might turn into a human pathogen causing osteomyelitis, arthritis, spondylitis, endocarditis and intervertebral diskitis in young children and rarely endocarditis, septic arthritis, meningitis, epiglottitis, diskitis and bacteraemia in adults. Sofar K. kingae associated stomatitis was reported in children and a few adults, however, with concomitant herpes simplex virus infections, and without microbiological confirmation. In the described case no viral infection was found. The proven K. kingae stomatitis represents an extension of the pathogenic spectrum and suggests that the breach of the oral mucosal barrier can be caused by the bacterial pathogen itself. Whether a concomitant viral infection is necessary forK. kingae to actually invade the bloodstream remains to be considered.

  19. Hepatoblastoma of the adult with pericardial metastasis: A case report

    PubMed Central

    Celotti, Andrea; Baiocchi, Gian Luca; Ceresoli, Marco; Bartoli, Michele; Ulinici, Silvia; Portolani, Nazario

    2016-01-01

    Background Hepatoblastoma is the most frequent liver tumor in children, but very rare in the adult and associated with an unfavorable prognosis. The diagnosis is always postoperative or post mortem and biopsy is not useful. Surgery is the only accepted treatment. Case presentation Our patient underwent surgery in the suspect of liver metastasis from a previous gastric cancer. Surgery consisted in left lobectomy with partial diaphragm resection and partial pericardiectomy for a pericardial lesion, found after the opening of the thorax. The diaphragm defect was corrected with a biological mesh. Results The histopathological examination indicated hepatoblastoma of the adult with pericardial metastases. The patient was asymptomatic and without recurrence after 21 months of follow up. Conclusion The hepatoblastoma of the adult is related to a poor prognosis with median survival time less than 5 months. Surgery is the only curative treatment, but in many cases tumor resection requires complex operations. Vascular and thoracic expertise could be useful in the management of hepatoblastoma. PMID:26826931

  20. Similar L-dopa-stimulated motor activity in mice with adult-onset 6-hydroxydopamine-induced symmetric dopamine denervation and in transcription factor Pitx3 null mice with perinatal-onset symmetric dopamine denervation.

    PubMed

    Li, Li; Sagot, Ben; Zhou, Fu-Ming

    2015-07-30

    The transcription factor Pitx3 null mutant (Pitx3Null) mice have a constitutive perinatal-onset and symmetric bilateral dopamine (DA) loss in the striatum. In these mice l-3,4-dihydroxyphenylalanine (l-dopa) induces apparently normal horizontal movements (walking) but also upward movements consisting of the vertical body trunk and waving paws that are absent in normal animals and in animals with the classic unilateral 6-hydroxydopamine (6-OHDA) lesion-induced DA denervation. Thus, a concern is that the perinatal timing of the DA loss and potential developmental abnormalities in Pitx3Null mice may underlie these upward movements, thus reducing the usefulness as a DA denervation model. Here we show that in normal wild-type (Pitx3WT) mice with adult-onset symmetric, bilateral 6-OHDA-induced DA lesion in the dorsal striatum, l-dopa induces normal horizontal movements and upward movements that are qualitatively identical to those in Pitx3Null mice. Furthermore, after unilateral 6-OHDA lesion of the residual DA innervation in the striatum in Pitx3Null mice, l-dopa induces contraversive rotation that is similar to that in Pitx3WT mice with the classic unilateral 6-OHDA lesion. These results indicate that in Pitx3Null mice, the bilateral symmetric DA denervation in the dorsal striatum is sufficient for expressing the l-dopa-induced motor phenotype and the perinatal timing of their DA loss is not a determining factor, providing further evidence that Pitx3Null mice are a convenient and suitable mouse model to study the consequences of DA loss and dopaminergic replacement therapy in Parkinson's disease.

  1. Tic Exacerbation in Adults with Tourette Syndrome: A Case Series

    PubMed Central

    Schaefer, Sara M.; Chow, Christopher A.; Louis, Elan D.; Robakis, Daphne

    2017-01-01

    Background Tourette syndrome (TS) has been described as peaking in adolescence with subsequent regression. We report patients who were diagnosed with TS during childhood who experienced a latent period (significant reduction in or absence of tics) followed by tic re-emergence in adulthood. Methods We performed a retrospective chart review of outpatients over age 21 seen at the Yale neurology clinic between January 2012 and July 2016 who were diagnosed with childhood-onset tics, and who experienced a latent period of greater than 1 year followed by an exacerbation. Results Sixteen patients were identified. The mean latent period was 16 years. Ten patients (62.5%) identified an exacerbation trigger, most commonly changes in substance use (five patients). Seven patients (43.8%) reported worsening of tics since childhood. Six patients (37.5%) had received pharmacological intervention for tics as children, and 15 patients (93.8%) as adults. Six of 15 patients (40.0%) had an effective response from those pharmacological intervention(s). Discussion Our study demonstrates that the decline in symptoms as patients age may represent temporary improvement. The latent period lasted years in our patients, different from the more rapid waxing and waning in children. A change in substance use was an important trigger. Requests for pharmacological intervention were not necessarily correlated with worsening tic severity. PMID:28289551

  2. Late onset radioiodine-induced hypothyroidism presenting with psychosis 14 years after treatment: a rare case

    PubMed Central

    Er, Chaozer; Sule, Ashish Anil

    2016-01-01

    Radioiodine treatment-induced hypothyroid psychosis is uncommon. Our literature search shows only three cases of hypothyroid psychosis developed within 3 months after the radioiodine treatment. Our case represents the first case of radioiodine-induced hypothyroidism presenting as psychosis much later (14 years) after the radioiodine treatment. A 60-year-old Chinese lady, with long-standing primary hypothyroidism due to the radioiodine treatment performed 14 years ago, presented with a 1-week history of hallucination, delusion and agitation. She was not on thyroid replacement. Thyroid function test done 14 years ago and again upon her admission to our facility was consistent with primary hypothyroidism. General blood tests and brain imaging were unremarkable. Her psychotic features resolved within 1 week with thyroid replacement and 9 days of antipsychotics. No further relapse of psychosis was noted. This emphasizes that radioiodine-induced hypothyroidism can go unnoticed for many years and present much later solely as psychosis. PMID:27099771

  3. Torpor expression in juvenile and adult Djungarian hamsters (Phodopus sungorus) differs in frequency, duration and onset in response to a daily cycle in ambient temperature.

    PubMed

    Diedrich, Victoria; Bank, Jonathan H; Scherbarth, Frank; Steinlechner, Stephan

    2015-10-01

    In addition to morphological and physiological traits of short-day acclimatisation, Djungarian hamsters (Phodopus sungorus) from Central Asia exhibit spontaneous daily torpor to decrease energy demands during winter. Environmental factors such as food scarcity and low temperatures have been shown to facilitate the use of this temporal reduction in metabolism and body temperature. We investigated the effect of a daily cycle in ambient temperature on short-day acclimation and torpor expression in juvenile and adult Djungarian hamsters. The animals were exposed to a cold dark phase (6°C) and a warmer light phase (18°C) and were compared with control hamsters kept at a constant ambient temperature of 18°C. Under constant conditions, torpor expression did not differ between adult and juvenile hamsters. Although the daily temperature cycle evoked an increased metabolic rate in adult and juvenile hamsters during the dark phase and strengthened the synchronization between torpor entrance and the beginning of the light phase, it did not induce the expected torpor facilitation. In adult hamsters, torpor expression profiles did not differ from those under constant conditions at all. In contrast, juvenile hamsters showed a delayed onset of torpor season, a decreased torpor frequency, depth and duration, as well as an increased number of early torpor terminations coinciding with the rise in ambient temperature after the beginning of the light phase. While the temperature challenge appeared to be of minor importance for energy balance and torpor expression in adult hamsters, it profoundly influenced the overall energy saving strategy of juvenile hamsters, promoting torpor-alleviating active foragers over torpor-prone energy-savers. In addition, our data suggest a more efficient acclimation in juvenile hamsters under additional energy challenges, which reduces the need for torpor expression.

  4. A case of delayed onset of threatened premature labor in association with electroconvulsive therapy in the third trimester of pregnancy.

    PubMed

    Pesiridou, Angeliki; Baquero, Giselle; Cristancho, Pilar; Wakil, Laura; Altinay, Murat; Kim, Deborah; O'Reardon, John P

    2010-09-01

    Electroconvulsive therapy (ECT) is recommended by the American Psychiatric Association Task Force on ECT as a safe and effective treatment of depression throughout pregnancy. We report here administration of ECT in the third trimester of pregnancy in a 33-year-old patient with severe bipolar depression. The patient had a good antidepressant response to ECT. She experienced, however, delayed onset premature uterine contractions at home after her sixth session of ECT (10 hours post-ECT administration). After receiving tocolytics, the patient's contractions did not progress to premature labor. In consultation with the obstetrics team, it was decided to terminate the ECT course earlier than planned. The patient is delivered of a healthy female newborn infant spontaneously at 37 weeks' gestational age. Four months after delivery, the baby's development is progressing normally. This case illustrates that premature contractions in association with ECT during the third trimester of pregnancy may be delayed in onset. Patients and treatment team need to be aware of this possibility, particularly when ECT is conducted on an outpatient basis.

  5. Segregation analysis of Alzheimer pedigrees: Rare Mendelian dominant mutation(s) explain a minority of early-onset cases

    SciTech Connect

    Martinez, M.; Campion, D.; Babron, M.C.; Darpoux, F.C.

    1996-02-16

    Segregation analysis of Alzheimer disease (AD) in 92 families ascertained through early-onset ({le}age 60 years) AD (EOAD) probands has been carried out, allowing for a mixture in AD inheritance among probands. The goal was to quantify the proportion of probands that could be explained by autosomal inheritance of a rare disease allele {open_quotes}a{close_quotes} at a Mendelian dominant gene (MDG). Our data provide strong evidence for a mixture of two distributions; AD transmission is fully explained by MDG inheritance in <20% of probands. Male and female age-of-onset distributions are significantly different for {open_quotes}AA{close_quote} but not for {open_quotes}aA{close_quote} subjects. For {open_quotes}aA{close_quote} subjects the estimated penetrance value was close to 1 by age 60. For {open_quotes}AA{close_quotes} subjects, it reaches, by age 90, 10% (males) and 30% (females). We show a clear cutoff in the posterior probability of being an MDG case. 10 refs., 1 tab.

  6. Scoliosis in adulthood—a case with untreated early onset scoliosis presenting at the age of 76 years

    PubMed Central

    Weiss, Hans-Rudolf

    2016-01-01

    [Purpose] Untreated early-onset scoliosis may eventually progress to more than 90° after growth, cause severe health problems, and increase chance of mortality. Therefore, surgical intervention is often indicated prior to the development of a life-threatening deformity. This case report aims to reveal how a 76-year-old male patient with curves exceeding 110° is functioning with minimal difficulty. [Subject and Methods] The patient, who has never had surgical intervention for scoliosis, can perform his everyday activities. His curves were 111° thoracic and 118° lumbar when he presented at the author’s office in January 2015. [Results] The patient reported that he rarely needs a physician and participates in endurance sports like jogging. Despite this, the patient recognizes his restrictive ventilation disorder (shortness of breath) when he is inactive. The patient complained of shortness of breath and cosmetic concerns. [Conclusion] The current guidelines indicate that early-onset scoliosis should be operated at a young age; however, this protocol is not supported by high-quality evidence. Notably, patients with curvatures exceeding 100° after puberty may have a reasonable quality of life when they lead an active life with regular participation in endurance sports and physical rehabilitation. PMID:28174478

  7. Delayed-onset of multiple cutaneous infantile hemangiomas due to propranolol: a case report.

    PubMed

    Porcel Chacón, Rocío; del Boz González, Javier; Navarro Morón, Juan

    2015-04-01

    Infantile hemangiomas are the most common vascular tumors in childhood. In view of its proven effectiveness in such cases, propranolol is the drug of choice. We present the case of a male infant who started treatment with propranolol shortly after birth due to heart disease. After 7 months, when the patient had suffered various respiratory exacerbations, this treatment was suspended. One week later, multiple skin lesions (ie, multifocal infantile hemangiomas) began to appear, with no extracutaneous involvement. It was decided to resume treatment with propranolol, although at lower doses than before, and the skin lesions improved rapidly, with some disappearing completely. Treatment was definitively withdrawn at age 16 months, with only slight recurrence of the lesions. The case described is of multifocal infantile hemangiomas without extracutaneous involvement appearing beyond the neonatal period after treatment with propranolol beginning in the first days of life. The details of the case support the hypothesis that this drug is not only therapeutic but also plays a prophylactic role against infantile hemangiomas. In turn, this supports the recent proposal that this drug may be useful in preventing the growth and spread of tumors with high angiogenic potential. It is postulated that the inhibition of β-adrenergic receptors is associated with multiple intracellular processes related to the progression and metastasis of different tumors.

  8. Adult pancreatoblastoma - Case report and review of literature

    PubMed Central

    Vilaverde, Filipa; Reis, Alcinda; Rodrigues, Pedro; Carvalho, Ana; Scigliano, Horácio

    2016-01-01

    Most cases of pancreatoblastoma, a rare malignant epithelial tumor of the pancreas, are seen in the pediatric population. The rarity of pancreatoblastoma, the similar radiologic findings to those seen in other pancreatic lesions, and its histopathologic heterogeneity, make its preoperative diagnosis in adults a real challenge. We report ultrasound, computed tomography and magnetic resonance imaging correlative findings of a histologically proven pancreatoblastoma in a 37-year-old woman. Pancreatoblastoma should be considered in the differential diagnosis of a pancreatic mass presenting uncommon imaging features. PMID:27761191

  9. Bilingual language processing after a lesion in the left thalamic and temporal regions. A case report with early childhood onset

    SciTech Connect

    van Lieshout, P.; Renier, W.; Eling, P.; de Bot, K.; Slis, I. )

    1990-02-01

    This case study concerns an 18-year-old bilingual girl who suffered a radiation lesion in the left (dominant) thalamic and temporal region when she was 4 years old. Language and memory assessment revealed deficits in auditory short-term memory, auditory word comprehension, nonword repetition, syntactic processing, word fluency, and confrontation naming tasks. Both languages (English and Dutch) were found to be affected in a similar manner, despite the fact that one language (English) was acquired before and the other (Dutch) after the period of lesion onset. Most of the deficits appear to be related to verbal (short-term) memory dysfunction. Several hypotheses of subcortical involvement in memory processes are discussed with reference to existing theories in this area.

  10. On the relative importance of magnetospheric and ionospheric processes during substorm onset and expansion: A case study

    NASA Technical Reports Server (NTRS)

    Lopez, Ramon E.

    1992-01-01

    The question of whether substorm onset is triggered in the magnetotail or the ionosphere is presented. The possible influence of the ionosphere in the subsequent development of a substorm is discussed. Theoretical considerations involved are reviewed and a case study to address this question is examined. The evidence indicates that magnetotail processes initiate the sequence of events called a substorm, while the ionosphere appears to play a critical role in the subsequent evolution of the substorm expansion phase. However, the necessary observations, in particular high time resolution coordinated observations in the ionosphere and magnetotail are relatively rare. Continued examination of existing ground and space based data sets, in particular underutilized observations such as the Scatha data, may provide a more solid foundation for clarifying this issue and determining the relative importance of magnetospheric and ionospheric processes during substorms.

  11. SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features

    PubMed Central

    Wheeler, Patricia G.; Ng, Bobby G.; Sanford, Laura; Sutton, V. Reid; Bartholomew, Dennis W.; Pastore, Matthew T.; Bamshad, Michael J.; Kircher, Martin; Buckingham, Kati J.; Nickerson, Deborah A.; Shendure, Jay; Freeze, Hudson H.

    2016-01-01

    Increasing numbers of congenital disorders of glycosylation (CDG) have been reported recently resulting in an expansion of the phenotypes associated with this group of disorders. SRD5A3 codes for polyprenol reductase which converts polyprenol to dolichol. This is a major pathway for dolichol biosynthesis for N-glycosylation, O-mannosylation, C-mannosylation, and GPI anchor synthesis. We present the features of five individuals (three children and two adults) with mutations in SRD5A3 focusing on the variable eye and skin involvement. We compare that to 13 affected individuals from the literature including five adults allowing us to delineate the features that may develop over time with this disorder including kyphosis, retinitis pigmentosa, and cataracts. PMID:27480077

  12. A case of late-onset allgrove syndrome presenting with predominant autonomic dysfunction

    PubMed Central

    Sanyal, Debmalya; Bhattacharjee, Shakya

    2013-01-01

    Allgrove Syndrome or triple A syndrome is a rare familial multisystem disorder characterized by achalasia, alacrima and adrenal insufficiency. The objective was to describe a case of 4A syndrome where autonomic dysfunction was the presenting feature. A 22-year-old male presented with erectile dysfunction and loss of spontaneous morning erections for six months. He was having nocturnal diarrhea and recurrent postural dizziness for three months. He was found to have hyperpigmentation at pressure points, postural hypotension and other features of autonomic dysfunction. Laboratory investigations and imaging studies revealed hypoadrenalism, achalasia, alacrima and peripheral neuropathy. Autonomic neuropathy-related features persisted even after correction of hypoadrenalism. Based on clinical features and investigation he was diagnosed as a case of 4A syndrome presenting with autonomic dysfunction. Allgrove or 4A syndrome should be considered as a rare differential diagnosis of someone presenting with features of autonomic neuropathy. PMID:23956580

  13. Early-Onset Signet-Ring Cell Adenocarcinoma of the Colon: A Case Report and Review of the Literature

    PubMed Central

    Khan, Maliha; Korphaisarn, Krittiya; Saif, Aneeqa; Foo, Wai C.

    2017-01-01

    Colorectal cancer (CRC) remains the second leading cause of cancer-related deaths in the United States. While a decline has been observed in the older population, the occurrence of CRC in the adolescent and young adult (AYA) population has increased over the past two decades. The histopathologic characteristics and clinical behavior of CRC in AYA patients have been shown to be distinct from those of CRC in older adults. The rarer subtypes of CRC such as mucinous adenocarcinoma and signet-ring cell carcinoma are associated with a poorer prognosis compared to the more common subtypes. Here we report a case of a 20-year-old man who was diagnosed with stage IVB (T4 N2 M1, with peritoneal carcinomatosis) signet-ring cell adenocarcinoma of the colon. The scarcity of information on these rarer subtypes merits further study and investigation. PMID:28326211

  14. Estimated personal soot exposure is associated with acute myocardial infarction onset in a case-crossover study.

    PubMed

    von Klot, Stephanie; Cyrys, Josef; Hoek, Gerard; Kühnel, Brigitte; Pitz, Mike; Kuhn, Ulrike; Kuch, Bernhard; Meisinger, Christa; Hörmann, Allmut; Wichmann, H-Erich; Peters, Annette

    2011-01-01

    The current study investigates the association of estimated personal exposure to traffic-related air pollution and acute myocardial infarction (AMI). Cases of AMI were interviewed in the Augsburg KORA Myocardial Infarction Registry from February 1999 through December 2003, and 960 AMI survivors were included in the analyses. The time-varying component of daily personal soot exposure (the temporally variable contribution due to the daily area level of exposure and daily personal activities) was estimated using a linear combination of estimated mean ambient soot concentration, time spent outdoors, and time spent in traffic. The association of soot exposure with AMI onset was estimated in a case-crossover analysis controlling for temperature and day of the week using conditional logistic regression analyses. Estimated personal soot exposure was associated with AMI (relative risk, 1.30 per 1.1 m(-1) × 10(-5) [95% confidence interval, 1.09-1.55]). Estimated ambient soot and measured ambient PM(2.5) particulate matter 2.5 µm and smaller in aerodynamic diameter were not significantly associated with AMI onset. Our results suggest that an increase in risk of AMI in association with personal soot exposure may be in great part due to the contribution of personal soot from individual times spent in traffic and individual times spent outdoors. As a consequence, estimates calculated based on measurements at urban background stations may be underestimations. Health effects of traffic-related air pollution may need to be updated, taking into account individual time spent in traffic and outdoors, to adequately protect the public.

  15. Localized Tetanus in an Adult Patient: Case Report

    PubMed Central

    Gulamhussein, Mohamed Amirali; Li, Yueyang; Guha, Abhijit

    2016-01-01

    Introduction: Tetanus is a severe and potentially fatal infection caused by the bacterium Clostridium tetani. Of all the cases described in literature, generalized tetanus is by far the most common presentation, but it may also present as neonatal tetanus, cephalic tetanus, and localized tetanus, the latter two being much rarer. In this case report, we present the rare form of this disease, i.e., localized tetanus in an adult male with a history of minimal trauma as well as a late, unusual mode of presentation. Case Report: A 35-year-old Caucasian male presented with an acutely painful, swollen right thumb associated with a small superficial collection on the dorsal aspect of the base of the thumb. A formal wound exploration and washout were carried out in theater, however, at the time of tourniquet inflation, the right hand went into a carpopedal spasm and remained in that position until an infusion of a muscle relaxant was given. The findings were consistent with a case of localized tetanus. The patient was treated with human immunoglobulin and tetanus toxoid and safely discharged home 48 h later without any complications. Conclusion: This case report emphasizes the importance of the recognition of a rare form of this fatal infectious disease, which may present with prodromal symptoms before the generalized form shows its clinical effects. Moreover, the astute clinician should be aware of the variable presentations of this infectious disease, with early identification greatly reducing the associated risks of morbidity and mortality. PMID:28164065

  16. Localization of a locus (GLC1B) for adult-onset primary open angle glaucoma to the 2cen-q13 region

    SciTech Connect

    Stoilova, D.; Trifan, O.C.; Sarfarazi, M.

    1996-08-15

    Primary open angle glaucoma (GLC1) is a common ocular disorder with a characteristic degeneration of the optic nerve and visual field defects that is often associated with an elevated intraocular pressure. The severe but rare juvenile-onset type has previously been mapped to 1q21-q31, and its genetic heterogeneity has been established. Herein, we present a new locus (GLC1B) for one form of GLC1 on chromosome 2cen-q13 with a clinical presentation of low to moderate intraocular pressure, onset in late 40s, and a good response to medical treatment. Two-point and haplotype analyses of affected and unaffected meioses in six families provided maximum linkage information with D2S417, GATA112EO3, D2S113, D2S373, and D2S274 (lod scores ranging from 3.11 to 6.48) within a region of 8.5 cM that is flanked by D2S2161 and D2S2264. Analysis of affected meioses alone revealed no recombination with an additional two markers (D2S2264 and D2S135) in a region of 11.2 cM that is flanked by D2S2161 and D2S176. Analysis of unaffected meioses identified only one healthy 86-year-old male who has inherited the entire affected haplotype and, hence, is a gene carrier for this condition. Eight additional families with similar and/or different clinical presentation did not show any linkage to this region and, therefore, provided evidence for genetic heterogeneity of adult-onset primary open angle glaucoma. 63 refs., 2 figs., 2 tabs.

  17. Severe lower limbs lymphedema of late onset revealing polysplenia syndrome--a case report.

    PubMed

    Granel, B; Serratrice, J; Juhan, V; Champsaur, P; Weiller-Merli, C; Pache, X; Swiader, L; Disdier, P; Weiller, P J

    2001-06-01

    Polysplenia syndrome includes a group of congenital abnormalities involving the spleen, gastrointestinal tract, liver, and cardiovascular system. A case of severe lower limbs lymphedema occurring in a young woman with polysplenia, azygous continuation of the inferior vena cava, short pancreas, and preduodenal portal vein is reported. Lower limb lymphedema could represent a new clinical manifestation associated with polysplenia syndrome. Lymphedema could be the result of a primary anomaly of the lymphatic system or be induced by high pressure in the venous system or by compression of the lymphatic circulation by the hypertrophic azygous vessels in the posterior mediastinum.

  18. Association of early-onset dementia with activities of daily living (ADL) in middle-aged adults with intellectual disabilities: the caregiver's perspective.

    PubMed

    Lin, Lan-Ping; Hsu, Shang-Wei; Hsia, Yi-Chen; Wu, Chia-Ling; Chu, Cordia; Lin, Jin-Ding

    2014-03-01

    Few studies have investigated in detail which factors influence activities of daily living (ADL) in adults with intellectual disabilities (ID) comorbid with/without dementia conditions. The objective of the present study was to describe the relation between early onset dementia conditions and progressive loss of ADL capabilities and to examine the influence of dementia conditions and other possible factors toward ADL scores in adults with ID. This study was part of the "Healthy Aging Initiatives for Persons with an Intellectual Disability in Taiwan: A Social Ecological Approach" project. We analyzed data from 459 adults aged 45 years or older with an ID regarding their early onset symptoms of dementia and their ADL profile based on the perspective of the primary caregivers. Results show that a significant negative correlation was found between dementia score and ADL score in a Pearson's correlation test (r=-0.28, p<0.001). The multiple linear regression model reported that factors of male gender (β=4.187, p<0.05), marital status (β=4.79, p<0.05), education level (primary: β=5.544, p<0.05; junior high or more: β=8.147, p<0.01), Down's syndrome (β=-9.290, p<0.05), severe or profound disability level (β=-6.725, p<0.05; β=-15.773, p<0.001), comorbid condition (β=-4.853, p<0.05) and dementia conditions (β=-9.245, p<0.001) were variables that were able to significantly predict the ADL score (R(2)=0.241) after controlling for age. Disability level and comorbidity can explain 10% of the ADL score variation, whereas dementia conditions can only explain 3% of the ADL score variation in the study. The present study highlights that future studies should scrutinize in detail the reasons for the low explanatory power of dementia for ADL, particularly in examining the appropriateness of the measurement scales for dementia and ADL in aging adults with ID.

  19. [A case of elderly onset Parkinson's disease complicated by dropped head syndrome].

    PubMed

    Horiuchi, M; Uehara, K; Komo, T; Sugihara, H; Takahashi, Y

    2001-09-01

    An 86-year old man presented with a 7-year history of gait disturbance. He was admitted to our hospital on April 2000 because he was experiencing difficulty eating due to progression of dropped head syndrome. Upon standing and sitting, remarkable dropped head and kyphosis were observed. When lying, the patient was able to stretch his neck, and he could stand and walk with the aid of a walker. Rigidity and resting tremor were present predominantly in the lower limbs. Parkinson's disease was diagnosed therefore L-dopa and Cabergoline were administered. Parkinsonism and dropped head syndrome improved in response to treatment. Cases involving dropped head syndrome due to Parkinson's disease are reportedly improved by L-dopa, but exasperated by dopamine agonists. The mechanism of dropped head is thought to be an imbalance in the tonus of the anterior and posterior neck muscles. Dropped head in the present case may have been a complication of Parkinson's disease since it improved in response to L-dopa.

  20. A Scary Onset of a Rare and Aggressive Type of Primary Breast Sarcoma: A Case Report

    PubMed Central

    Ramalho, Inês; Campos, Sara; Rebelo, Teresa; Figueiredo Dias, Margarida

    2016-01-01

    Primary breast sarcoma, arising from connective tissue within the breast, is extremely rare, accounting for less than 1% of all primary breast malignancies and no more than 5% of all sarcomas. The rarity of this pathology limits most studies to case reports and small retrospective studies, which has led to a lack of consensus on the clinical management. We report a clinical case of a 52-year-old woman, perimenopausal, previously healthy, with regular breast surveillance, who presented with a large (>20 cm) and rapidly expanding hypervascularized tumor of the left breast developed over 10 days, with a very thin preulcerative skin over the last 4 days. There was no systemic dissemination. The patient was submitted to total mastectomy and excision of axillary adenopathy. The tumor was diagnosed histologically as malignant phyllodes tumor associated with areas of high-grade sarcoma. Due to rapid growth and aggressive histological characteristics, adjuvant chemotherapy and radiotherapy were performed. There is a lot of evidence that tumors larger than 5 cm are associated with a poor prognosis. Despite the poor prognosis associated with this aggressive entity, the patient had no recurrence during 5 years of follow-up. We review the relevant literature about primary breast sarcomas. PMID:28101028

  1. A case of lupus vulgaris with rare localization diagnosed 30 years after onset.

    PubMed

    Laudańska, H; Reduta, T; Zalewski, G; Chodynicka, B

    2011-01-01

    Cutaneous tuberculosis (tuberculosis cutis) is one of the extrapulmonary forms of tuberculosis, which may affect the skin only or co-exist with tuberculosis of other organs, particularly the lungs. We describe a case of lupus vulgaris in a 72-year-old male patient with a single lesion localized on his lower extremity, developing for 30 years before correct diagnosis and previously treated with topical steroids. Bacillus infection in other organs was not detected. Diagnosis of tuberculosis was made based on personal history, clinical picture, hypersensitivity to tuberculin, histopathology and polymerase chain reaction. A multidrug therapy with rifampicin, isoniazid and pyrazinamide resulted in regression of the lesion. The common lack of knowledge about the clinical picture of cutaneous tuberculosis causes its late diagnosis and treatment.

  2. Rapid onset of Parkinsonian-like symptoms in a geriatric dental patient: a case report.

    PubMed

    Johnson, Cleverick D; Shynett, Betty; Johnson, Claudette D; Maldonado, Barbara J

    2006-11-01

    This article reviews the clinical issues regarding adverse drug reactions in geriatric dental patients. Accurate clinical observations and diagnosis are complicated in geriatric patients because they are predisposed to chronic illnesses, various prescribing physicians, and a decreased ability to metabolize and detoxify multiple medications. The authors have further reviewed neurological motor reactions with a detailed review of the physical presentations of Parkinson's disease. As such, the dental professional has a unique opportunity to provide observational feedback to other healthcare providers concerning the health status of their geriatric patients. In this case report, the changes in the patient's physical status and mental well-being were not a result or associated with a catastrophic event (eg, stroke, cardiovascular event, or head injury). The patient's rapid degeneration was anecdotally associated with a recently prescribed group of medications, which shows the need for healthcare professionals to be aware of changes in medications when assessing patients' health.

  3. Delayed onset of pulmonary hypertension associated with an appetite suppressant, mazindol: a case report.

    PubMed

    Hagiwara, M; Tsuchida, A; Hyakkoku, M; Nishizato, K; Asai, T; Nozawa, Y; Tsuchihashi, K; Shimamoto, K

    2000-03-01

    The use of the appetite suppressant agents aminorex and fenfluramine derivatives has been reported as a risk factor for the development of pulmonary hypertension. A 29-year-old female developed pulmonary hypertension suspected to be due to an amphetamine-like appetite suppressant agent, mazindol ((+/-)-5-(p-chlorophenyl)-2,5-dihydro-3H-imidazo [2,1-a] isoindol-5-ol). She was admitted to Sapporo Medical University Hospital with dyspnea due to severe pulmonary hypertension. Twelve months prior to admission, she had taken mazindol continuously for a period of 10 weeks. As yet, her pulmonary hypertension has not completely improved. This is the first reported case of mazindol-associated pulmonary hypertension, which developed after a long latent interval, and it suggests that mazindol is also a risk factor for the development of pulmonary hypertension, making long-term follow-up necessary for patients taking this anorectic agent.

  4. Late-onset granulomatous prostatitis following intravesical bacille Calmette-Guerin therapy: case report.

    PubMed

    Castillo Cádiz, Octavio; Villasenín Parrado, Lorena; Borgna Christie, Vincenzo; Gallegos Méndez, Iván; Martínez Corta, Virginia

    2016-06-20

    Bacille Calmette-Guerin intravesical treatment is the most effective treatment for reducing the recurrence of non-muscle-invasive urothelial carcinomas. This treatment can sometimes have side effects and serious complications. Granulomatous prostatitis is a common histological finding but it rarely has a clinical presentation. We report a case of a 75-year-old, type 2 diabetic, male patient who was diagnosed with urothelial in situ carcinoma, for which he began treatment with Bacille Calmette-Guerin instillations. Five years later the patient presented nocturia, pollakiuria, severe urgency, and intense and recurrent perineal pain associated with marked elevation of prostatic specific antigen. A prostatic biopsy was performed that showed a moderate to severe granulomatous prostatitis related to bacille Calmette-Guerin. The patient received full antituberculosis combination drugs with a favorable clinical response.

  5. Acute onset of focal seizures, psychiatric features and confusion: a case of autoimmune encephalitis?

    PubMed Central

    Al-Diwani, Adam; Butterworth, Richard J; Nibber, Anjan; Lang, Bethan; Vincent, Angela; Irani, Sarosh R

    2012-01-01

    An elderly woman presented with disorganised thinking, unusual behaviour and clustered episodes of speech arrest accompanied by right-sided face and arm twitching. The following investigations were normal: interictal electroencephalography, brain MRI, cerebrospinal fluid viral PCR and cell count and voltage-gated potassium channel-complex, N-methyl-d-aspartate receptor, gamma-aminobutyric acid (B) receptor, α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor, glycine receptor, glutamic acid decarboxylase and paraneoplastic antibodies. The syndrome showed partial spontaneous resolution but 1 year later, typical postencephalopathic features persisted including disinhibition and alteration of sleep–wake cycle. The most likely clinical diagnosis was autoimmune encephalitis and the broader differential diagnoses are discussed within the article. This case demonstrates the need to be aware of this under-recognised and potentially treatable entity. PMID:23112257

  6. Idiopathic hypersomnia: a report of three adolescent-onset cases in a two-generation family.

    PubMed

    Janácková, Sona; Motte, Jacques; Bakchine, Serge; Sforza, Emilia

    2011-04-01

    Idiopathic hypersomnia is an uncommon sleep disorder characterized by prolonged sleep time and excessive daytime sleepiness without cataplexy. This study concerned a case of familial occurrence. The proband expressed an idiopathic hypersomnia with long sleep time at the age of 12 years. Clinical interview and ad libitum polysomnographic study did not reveal any symptoms of narcolepsy or other sleep disorders. Family history revealed that a 20-year-old sister had experienced symptoms of hypersomnia from the age of 16 and their mother had been diagnosed with idiopathic hypersomnia previously. The diagnosis of idiopathic hypersomnia with long sleep time was confirmed in the sister by clinical interview and ad libitum polysomnography. Human leukocyte antigen (HLA) did not reveal the DQB1-0602 phenotype in the proband and relatives. This report confirms the hypothesis of a genetic predisposition in idiopathic hypersomnia.

  7. Childhood pegboard task predicts adult-onset psychosis-spectrum disorder among a genetic high-risk sample.

    PubMed

    Rakhshan, Pamela; Sørensen, Holger; DeVylder, Jordan; Mittal, Vijay; Mortensen, Erik L; Michelsen, Niels M; Ekstrøm, Morten; Pitts, Steven C; Mednick, Sarnoff A; Schiffman, Jason

    2016-12-01

    Motor abnormalities have been established as a core aspect of psychosis-spectrum disorders, with numerous studies identifying deficits prior to clinical symptom presentation. Additional research is needed to pinpoint standardized motor assessments associated with psychosis-spectrum disorders prior to illness onset to enhance prediction and understanding of etiology. With a long history of findings among people with diagnosable psychosis-spectrum disorders, but little research conducted during the premorbid phase, pegboard tasks are a viable and understudied measure of premorbid for psychosis motor functioning. In the current study, examining data from the Copenhagen Perinatal Cohort, the Simultaneous Pegs Test was performed with children (n=244, aged 10-13) at genetic high risk for psychosis (n=94) and controls (n=150). Findings suggest that children who eventually developed a psychosis-spectrum disorder (n=33) were less likely to successfully complete the task within time limit relative to controls (χ(2)(2, N=244)=6.94, p=0.03, ϕ=0.17). Additionally, children who eventually developed a psychosis-spectrum disorder took significantly longer to complete the task relative to controls (χ(2)(2, N=244)=7.06, p=0.03, ϕ=0.17). As pegboard performance is thought to tap both diffuse and specific brain networks, findings suggest that pegboard tests may be useful premorbid measures of motor functioning among those on a trajectory towards a psychosis-spectrum disorder.

  8. Assessment of the onset of action of afoxolaner against existing adult flea (Ctenocephalides felis) infestations on dogs.

    PubMed

    Kunkle, Bruce N; Drag, Marlene D; Chester, Theodore S; Larsen, Diane L

    2014-04-02

    The speed of kill of afoxolaner against experimental infestations by Ctenocephalides felis was evaluated after oral administration of afoxolaner in a soft chew (NEXGARD(®)) at a dose to achieve 2.5mg/kg bodyweight. Forty beagles were allocated to two treatment groups. Dogs in Treatment Group 1 were untreated controls. Dogs in Treatment Group 2 were treated on Day-0 with afoxolaner, according to their pre-treatment bodyweight. All dogs were infested with approximately 100 C. felis on Day-1. Live fleas were counted upon removal at 5 time points after treatment (i.e., 2, 4, 8, 12 and 24h after treatment). For each time point, counts were performed on 4 dogs from each of the treated and the untreated groups. Early curative flea killing efficacy was evaluated with respect to the untreated control group. The afoxolaner treated group had significantly fewer fleas than the untreated control group at 8, 12, and 24h (p<0.001). The percent efficacies of orally administered afoxolaner were 15.0%, 87.8%, 99.5%, 100.0%, and 100.0% at 2, 4, 8, 12, and 24h, respectively. In this study, afoxolaner began killing fleas by 2h after treatment with increasing efficacy at subsequent time points and had >99.5% efficacy at 8, 12, and 24h after treatment demonstrating an early onset of action.

  9. BRAF V600E-mutated diffuse glioma in an adult patient: a case report and review.

    PubMed

    Suzuki, Yuta; Takahashi-Fujigasaki, Junko; Akasaki, Yasuharu; Matsushima, Satoshi; Mori, Ryosuke; Karagiozov, Kostadin; Joki, Tatsuhiro; Ikeuchi, Satoshi; Ikegami, Masahiro; Manome, Yoshinobu; Murayama, Yuichi

    2016-01-01

    Recent advances in genomic technology and genome-wide analysis have identified key molecular alterations that are relevant to the diagnosis and prognosis of brain tumors. Molecular information such as mutations in isocitrate dehydrogenase (IDH) genes or 1p/19q co-deletion status will be more actively incorporated into the histological classification of diffuse gliomas. BRAF V600E mutations are found frequently in circumscribed low-grade gliomas such as pleomorphic xanthoastrocytoma (PXA) and extra-cerebellar pilocytic astrocytoma, or epithelioid glioblastomas (E-GBM), a rare variant of GBM. This mutation is relatively rare in other types of diffuse gliomas, especially in adult onset cases. Here, we present an adult onset case of IDH wild-type/BRAF V600E-mutated diffuse glioma, evolving from grade III to grade IV. The tumor displayed atypical exophytic growth and had unusual histological features not fully compatible with, but indicative of PXA and E-GBM. We discuss differential diagnosis of the tumor, and review previously described diffuse gliomas with the BRAF V600E mutation.

  10. Toward onset prevention of cognitive decline in adults with Down syndrome (the TOP-COG study): study protocol for a randomized controlled trial

    PubMed Central

    2014-01-01

    Background Early-onset dementia is common in Down syndrome adults, who have trisomy 21. The amyloid precursor protein gene is on chromosome 21, and so is over-expressed in Down syndrome, leading to amyloid β (Aβ) over-production, a major upstream pathway leading to Alzheimer disease (AD). Statins (microsomal 3-hydroxy-3-methylglutaryl coenzyme A reductase inhibitors), have pleiotropic effects including potentially increasing brain amyloid clearance, making them plausible agents to reduce AD risk. Animal models, human observational studies, and small scale trials support this rationale, however, there are no AD primary prevention trials in Down syndrome adults. In this study we study aim to inform the design of a full-scale primary prevention trial. Methods/Design TOP-COG is a feasibility and pilot double-blind randomized controlled trial (RCT), with a nested qualitative study, conducted in the general community. About 60 Down syndrome adults, aged ≥50 will be included. The intervention is oral simvastatin 40mg at night for 12 months, versus placebo. The primary endpoint is recruitment and retention rates. Secondary endpoints are (1) tolerability and safety; (2) detection of the most sensitive neurocognitive instruments; (3) perceptions of Down syndrome adults and caregivers on whether to participate, and assessment experiences; (4) distributions of cognitive decline, adaptive behavior, general health/quality of life, service use, caregiver strain, and sample size implications; (5) whether Aβ42/Aβ40 is a cognitive decline biomarker. We will describe percentages recruited from each source, the number of contacts to achieve this, plus recruitment rate by general population size. We will calculate summary statistics with 90% confidence limits where appropriate, for each study outcome as a whole, by treatment group and in relation to baseline age, cognitive function, cholesterol and other characteristics. Changes over time will be summarized graphically. The

  11. Onset of complications following cervical manipulation due to malpractice in osteopathic treatment: a case report.

    PubMed

    Cicconi, Michela; Mangiulli, Tatiana; Bolino, Giorgio

    2014-10-01

    The aim of this study is to correlate cervical disc herniation with manipulation performed by a non-physician osteopath on a patient complaining of neck pain. The authors report a case in which a woman - treated with osteopathic spinal manipulation - developed cervical-brachial neuralgia following the cervical disc herniation. The patient then underwent surgery and was followed by physiotherapists. A clinical condition characterized by limitation of neck mobility, with pain and sensory deficit in the right arm and II-III fingers, still persists. The patient consulted the authors to establish whether cervical disc herniation could be attributed to manipulation. Adverse events or side effects of spinal manipulative therapy are relatively common and usually benign. Most of these side effects are mild or moderate, but sometimes they can be severe. Cervical manipulation can provoke complications less often than thoracic or lumbar manipulation. Furthermore, many diseases can be absolutely and relatively contraindicated to osteopathic treatment. Therefore, the knowledge of a patient's clinical conditions is essential before starting a manipulative treatment; otherwise the osteopath could be accused of malpractice. It is the authors' opinion that a cause-effect relationship exists between the manipulative treatment and the development of disc herniation.

  12. The Onset of a Novel Environmental Offset: A case study for diverse pollutant scheme in Australia.

    NASA Astrophysics Data System (ADS)

    Sengupta, A.; Arora, M.; Delbridge, N.; Pettigrove, V.; Feldman, D.

    2014-12-01

    enrichment downstream could occur. This study demonstrates an innovative case for evaluating net environmental benefits, and might hold important lessons for the design of offset schemes in comparable environments elsewhere.

  13. Histopathology of the Inner Ear in a Case With Recent Onset of Cogan's Syndrome: Evidence for Vasculitis.

    PubMed

    Jung, David H; Nadol, Joseph B; Folkerth, Rebecca D; Merola, Joseph F

    2016-01-01

    The association of sensorineural hearing loss and vertigo with inflammatory eye disease, usually interstitial keratitis, has been called Cogan's syndrome. The pathogenesis of Cogan's syndrome is unknown, but it has been assumed to be an immune mediated disorder with vasculitis. The histopathology of the inner ear in Cogan's syndrome has been described in 6 case reports. Although common pathologic findings in these reports include degeneration of the auditory and vestibular neuroepithelium, endolymphatic hydrops, fibrosis, and new bone formation, direct pathologic evidence of a vasculitis has not been published. A possible reason for this failure to identify vasculitis was a substantial delay (range, 4-40 years) between the onset of symptoms and examination of the otopathology. In the current case report, the patient had both auditory and vestibular symptoms and interstitial keratitis with a time delay of only 2 to 4 weeks between symptoms and death. Evidence of a vasculitis as a possible underlying etiology included H&E histopathology and anti-CD45 immunostaining of vessels both in the auditory and vestibular systems, supporting the hypothesis of a vasculitis as a mechanism in this disorder.

  14. Nivolumab-induced chronic inflammatory demyelinating polyradiculoneuropathy mimicking rapid-onset Guillain-Barré syndrome: a case report.

    PubMed

    Tanaka, Ryota; Maruyama, Hiroshi; Tomidokoro, Yasushi; Yanagiha, Kumi; Hirabayashi, Takumi; Ishii, Akiko; Okune, Mari; Inoue, Sae; Sekine, Ikuo; Tamaoka, Akira; Fujimoto, Manabu

    2016-09-01

    Nivolumab, an anti-programmed death-1-specific monoclonal antibody, has demonstrated a durable response and effect on overall survival and has become one of the standard treatments for patients with advanced melanoma. Reported herein is a case of nivolumab-induced chronic inflammatory demyelinating polyradiculoneuropathy, in which an 85-year-old woman with stage IV melanoma developed grade 1 paresthesia 2 weeks after the initial dose of nivolumab was administered. With continued treatment, the neurological deficiency deteriorated rapidly, mimicking Guillain-Barré syndrome, causing such a dramatic decrease in her activities of daily living that she could no longer function in daily life. Thus, nivolumab treatment was discontinued. A course of intravenous immunoglobulin infusion yielded a dramatic clinical improvement; in particular, improved motor control was observed within a few days. Her initial presentation was suggestive of acute inflammatory demyelinating polyradiculoneuropathy, a subtype of Guillain-Barré syndrome; however, the good response to steroids and exacerbation 8 weeks after the onset were suggestive of chronic inflammatory demyelinating polyradiculoneuropathy induced by nivolumab. This is the first case of Guillain-Barré syndrome-like autoimmune polyradiculoneuropathy induced by programmed death-1/programmed death-ligand 1 inhibitors. Although neurological adverse events related to nivolumab are rare, they can become severe, requiring early diagnosis and intervention. Intravenous immunoglobulin may be considered as an effective initial treatment for patients who develop acute autoimmune nervous system disorders due to nivolumab.

  15. Early-onset neonatal sepsis in Pakistan: a case control study of risk factors in a birth cohort.

    PubMed

    Bhutta, Z A; Yusuf, K

    1997-10-01

    We prospectively evaluated risk factors for early-onset neonatal (EON) sepsis in a case-control study among inborn patients at the Aga Khan University Medical Centre in Karachi between 1990-1993. A total of 38 cases with blood culture proven bacterial sepsis were identified within 72 hr of birth (prevalence 5.6 of 1000 live births) and matched with two consecutive gender matched births with no complications. The most common isolates were Staphylococcus aureus (18%), group B Streptococci (13%), and Klebsiella pneumoniae (13%). Univariate analysis of maternal risk factors revealed a significant association between maternal urinary tract infection (UTI) (odds ratio [OR]20, 95% confidence interval [CI]2.4-166.9), maternal pyrexia (P < 0.0001), vaginal discharge (P < 0.05), vaginal examinations during labor (P = 0.03), and EON sepsis. The infected newborns also had significantly lower apgar scores at birth (P < 0.0001) and a significantly greater number were intubated at birth (Fisher's exact test P = 0.04). Infected newborn infants were transferred out of the labor room earlier than noninfected controls and significantly fewer received exclusive breastfeeds (OR 0.33, 95% CI 0.1-0.8). Our data suggest the possibility that both vertical transmission from the mother as well as postnatal acquisition of infection from the environment may be of importance in the pathogenesis of EON sepsis in Karachi. Preventive measures should focus at recognition of high-risk infants, strict asepsis during labor, and early institution of exclusive breastfeeding.

  16. Adult children of parents with young-onset dementia narrate the experiences of their youth through metaphors

    PubMed Central

    Johannessen, Aud; Engedal, Knut; Thorsen, Kirsten

    2015-01-01

    Background Limited research exists on the development and needs of children of parents with young-onset dementia (YOD) (<65 years old). There is scarce knowledge of how these children experience the situation of growing up with a parent with dementia. This study investigates the stories of children of persons with YOD and interprets their metaphorical expressions of their experiences as a source of understanding their situation and needs during the development and course of their parent’s dementia. Methods Qualitative interviews with 14 informants (aged 18–30 years; nine daughters, five sons) were conducted in 2014 and subsequently analyzed by the informants’ use of metaphors. Steger’s three-step method for analyzing metaphors was applied. Results The analysis identified four themes in the metaphors: the informants’ relations to the disease, to the self, to the parent, and to others. From these themes, four core metaphors were abstracted: “my parent is sliding away”; “emotional chaos”; “becoming a parent to my parent”; and “a battle”. Conclusion The study revealed that growing up with a parent with dementia has a great impact on the children’s situation and their experiences of their personal development. Children of a parent with YOD are a group with unmet needs for support. A formalized system where the children can get into contact with service providers to receive tailored information and individual follow-up needs to be established. The service providers must listen to the children’s stories, perceive how metaphors convey their experiences, and recognize their need for support for their own development. PMID:26060403

  17. Parricide cases of adult offenders from Turkey: A descriptive study.

    PubMed

    Sahin, Esat; Sahin, M Feyzi; Tavasli, Ali; Gul, M Cihad; Seyhan, O Faruk; Demirbuga, Sedat; Aliustaoglu, F Suheyla

    2016-04-01

    The aim of this study was to examine and compare similarities and differences among types of parricide committed by adult offenders. The forensic psychiatric evaluation reports of the 4th Specialization Board of the Council of Forensic Medicine from 2009 to 2011 in Turkey were screened retrospectively. One hundred thirty-five adult perpetrators of parricide (125 male, 10 female) were detected, 51.9% of whom committed patricide, 40% of whom matricide and 8.1% of the perpetrators committed double parricide. Most of the perpetrators used sharp instruments as the killing method. No mental disorders were detected in 58.5% of the perpetrators, while psychotic disorders were identified in 30.4% of the cases. This study supported the predominance of sharp instruments as the killing method and a preponderance of matricide among the offenders with psychotic disorders. Although psychotic disorders were the most commonly detected mental disorders in the parricide offenders, most of them did not suffer from mental disorders.

  18. Metabolic co-morbidities revealed in patients with childhood-onset adult GH deficiency after cessation of GH replacement therapy for short stature.

    PubMed

    Fukuda, Izumi; Hizuka, Naomi; Yasumoto, Kumiko; Morita, Junko; Kurimoto, Makiko; Takano, Kazue

    2008-12-01

    GH therapy was approved in 2006 for treatment of adult growth hormone deficiency (GHD) in Japan. Until then, GH was used only to treat short stature in children with GHD and the treatment was stopped when the final height was reached. In the present study, we investigated metabolic co-morbidities experienced by adults with childhood-onset (CO) GHD after the cessation of GH. Forty-two patients with COGHD (M/F 22/20, age at follow up when the retrospective analysis was carried out: 18-52 yr) treated with GH in childhood were studied. We reviewed the medical records of these patients to determine the metabolic co-morbidities that developed after cessation of GH. The median age was 19 yrs (range: 14-38) at cessation of GH, and the following co-morbidities were observed: hypertriglyceridemia in 15 (41%) patients, non-alcoholic fatty liver disease (NAFLD) in 11 (29%) patients, hypercholesterolemia in 10 (26%) patients, diabetes mellitus (DM) in 4 (10%) patients, and hypertension in 1 (2.4%) patient. The median BMI when these complications became overt was 23.5 kg/m(2) for those with hypertriglyceridemia, 26.0 kg/m(2) for those with NAFLD, 20.9 kg/m(2) for those with hypercholesterolemia, and 27.2 kg/m(2 ) for those with DM. More than two co-morbidities were experienced by 32% of men and 30% of women. In conclusion, adults with COGHD after the cessation of GH have multiple metabolic co-morbidities. Lifelong GH replacement might be important for improving the overall metabolic profiles in these patients.

  19. Adult Intussusception due to Cecal Lymphangioma: A Case Report

    PubMed Central

    Kim, Dong Il; Kim, Jae Hun; Kim, Hyun Sung; Jo, Hong Jae

    2011-01-01

    We present a rare case of adult intussusception due to cecal lymphangioma. A 30-year-old female was admitted to our hospital with abdominal pain and a palpatable mass on the right lower quadrant. Preoperative radiologic studies by ultrasound and computed tomography showed ileocolic intussusception with a multiseptated cystic tumor as a leading point on the cecum. An ileocecectomy was performed, and the postoperative course was uneventful. Histopathology showed a cecal lymphangioma. Although endoscopic polypectomy or endoscopic mucosal resection is recommended for pedunculated or semi-pedunculated colonic lymphangiomas less than 2 cm in size, it is proper to treat large or symptomatic colonic lymphangiomas with limited a bowel resection or a tumor resection. PMID:21602970

  20. Caspase-8 deficiency presenting as late-onset multi-organ lymphocytic infiltration with granulomas in two adult siblings

    PubMed Central

    Niemela, Julie; Kuehn, Hye Sun; Kelly, Corin; Zhang, Mingchang; Davies, Joie; Jose, Melendez; Dreiling, Jennifer; Kleiner, David; Calvo, Katherine; Oliveira, João B.; Rosenzweig, Sergio D.

    2015-01-01

    Caspase-8 deficiency (CED) was originally described in 2002 in two pediatric patients presenting with clinical manifestations resembling autoimmune lymphoproliferative syndrome (ALPS) accompanied by infections, and T, B and NK cell defects. Since then, no new CED patients were published. Here we report two adult siblings (Pt1 and Pt2) presenting in their late thirties with pulmonary hypertension leading to lung transplant (Pt1), and a complex neurological disease leading to multiple cranial nerves palsies (Pt2) as their main manifestations. A thorough clinical and immunological evaluation was performed at the Primary Immunodeficiency Clinic at NIH, followed by whole exome sequencing. The patients had multiorgan lymphocytic infiltration and granulomas, as well as clinical signs of immune deficiency/ immune dysregulation. Both siblings carried homozygous mutations in CASP8, c.1096C>T, p.248R>W. This was the same mutation described on the previously published CED patients, to whom these new patients were likely distantly related. We report two new CED patients presenting during adulthood with life-threatening end-organ lymphocyte infiltrates affecting the lungs, liver, spleen, bone marrow and central nervous system. This phenotype broadens the clinical spectrum of manifestations associated with this disease and warrants the search of CASP8 mutations in other cohorts of patients. PMID:25814141

  1. Freirean Philosophy and Pedagogy in the Adult Education Context: The Case of Older Adults' Learning

    ERIC Educational Resources Information Center

    Findsen, Brian

    2007-01-01

    Central tenets of Freirean philosophy and pedagogy are explored and applied to the emerging field of older adults' learning (educational gerontology), a sub-field of adult education. I argue that many of Freire's concepts and principles have direct applicability to the tasks of adult educators working alongside marginalized older adults. In…

  2. Three cases of acute fatty liver of pregnancy: postpartum clinical course depends on interval between onset of symptoms and termination of pregnancy.

    PubMed

    Aso, Kaai; Hojo, Satoshi; Yumoto, Yasuo; Fukushima, Kotaro; Miyazaki, Masayuki; Kotoh, Kazuhiro; Wake, Norio

    2010-09-01

    We report our experience with three cases of acute fatty liver of pregnancy. Case 1 complained of hydrodipsia 4 days before delivery. Case 2 presented with nausea, vomiting and dizziness 6 days before delivery. Case 3 developed loss of appetite and general fatigue with jaundice 10 days before delivery. They underwent termination of pregnancy after diagnosis was made. Case 3 still developed hepatic encephalopathy, and finally she required liver transplantation. We hypothesise that the interval between the onset of symptoms and termination of pregnancy is an important factor for acuity of the disorder and patient morbidity or mortality.

  3. Male mice retain a metabolic memory of improved glucose tolerance induced during adult onset, short-term dietary restriction

    PubMed Central

    2012-01-01

    Background Chronic dietary restriction (DR) has been shown to have beneficial effects on glucose homeostasis and insulin sensitivity. These factors show rapid and robust improvements when rodents were crossed over from an ad libitum (AL) diet to DR in mid life. We aimed to determine whether the beneficial effects induced by short-term exposure to DR can be retained as a ‘metabolic memory’ when AL feeding is resumed (AL-DR-AL) and vice versa: whether the effects of long-term DR can be reversed by a period of AL feeding (DR-AL-DR). C57BL/6 male and female mice were used to examine sex differences (N = 10/sex/group). Mice were fed AL or DR from 3 until 15 months (baseline) and each dietary crossover lasted approximately 5 months. Results In females, body and fat mass were proportional to the changes in feeding regime and plasma insulin and glucose tolerance were unaffected by the crossovers. However, in male mice, glucose tolerance and plasma insulin levels were reversed within 6 to 12 weeks. When males returned to AL intake following 5 months DR (AL-DR-AL), body mass was maintained below baseline, proportional to changes in fat mass. Glucose tolerance was also significantly better compared to baseline. Conclusions Male mice retained a metabolic memory of 5 months of DR feeding in terms of reduced body mass and improved glucose tolerance. This implies that some of the beneficial effects induced by a period of DR in adult life may be beneficial, even when free feeding is resumed at least in males. However, under continuous DR, lifespan extension was more prominent in females than in males. PMID:24764509

  4. Increased Expression of the Large Conductance, Calcium-Activated K+ (BK) Channel in Adult-Onset Neuronal Ceroid Lipofuscinosis

    PubMed Central

    Donnelier, Julien; Braun, Samuel T.; Dolzhanskaya, Natalia; Ahrendt, Eva; Braun, Andrew P.; Velinov, Milen; Braun, Janice E. A.

    2015-01-01

    Cysteine string protein (CSPα) is a presynaptic J protein co-chaperone that opposes neurodegeneration. Mutations in CSPα (i.e., Leu115 to Arg substitution or deletion (Δ) of Leu116) cause adult neuronal ceroid lipofuscinosis (ANCL), a dominantly inherited neurodegenerative disease. We have previously demonstrated that CSPα limits the expression of large conductance, calcium-activated K+ (BK) channels in neurons, which may impact synaptic excitability and neurotransmission. Here we show by western blot analysis that expression of the pore-forming BKα subunit is elevated ~2.5 fold in the post-mortem cortex of a 36-year-old patient with the Leu116∆ CSPα mutation. Moreover, we find that the increase in BKα subunit level is selective for ANCL and not a general feature of neurodegenerative conditions. While reduced levels of CSPα are found in some postmortem cortex specimens from Alzheimer’s disease patients, we find no concomitant increase in BKα subunit expression in Alzheimer’s specimens. Both CSPα monomer and oligomer expression are reduced in synaptosomes prepared from ANCL cortex compared with control. In a cultured neuronal cell model, CSPα oligomers are short lived. The results of this study indicate that the Leu116∆ mutation leads to elevated BKα subunit levels in human cortex and extend our initial work in rodent models demonstrating the modulation of BKα subunit levels by the same CSPα mutation. While the precise sequence of pathogenic events still remains to be elucidated, our findings suggest that dysregulation of BK channels may contribute to neurodegeneration in ANCL. PMID:25905915

  5. Aripiprazole in the treatment of early-onset schizophrenia spectrum disorder: A case series in Korean children and adolescents

    PubMed Central

    Kim, Yeni; Cho, Soo-Churl; Shin, Min-Sup; Kim, Jae-Won; Choi, Sang-Chul; Kim, Boong-Nyun

    2009-01-01

    Objective: The aim of this case series was to assess the effectiveness and tol-erability of aripiprazole in Korean children and adolescents with early-onset schizophrenia spectrum (EOSS) disorder. Methods: The medical records of aripiprazole-treated patients with EOSS were retrospectively reviewed. Changes in illness severity were measured using the Clinical Global Impression-Severity of Illness (CGI-S) and Clinical Global Impression-Improvement (CGI-I) scales. Results: Data from 22 children and adolescents were included (12 girls, 10 boys; mean [SD] age, 14.0 [2.4] years). The mean (SD) dosage of aripiprazole was 19.8 (9.4) mg/d (median, 18.7 mg/d; mode, 15, 30 mg/d), and the range of treatment duration was 21 to 838 days. Mean (SD) CGI-S score improved significantly from baseline to end point (from 5.7 [0.7] to 4.3 [1.4]; P < 0.001). Based on changes in chart-extracted CGI-I scores, significantly greater improvement was associated with negative symptoms compared with positive symptoms (U = 25.5; P = 0.028; r = −0.47). Aripiprazole was discontinued due to insufficient effect in 5 patients (22.7%) and treatment-emergent adverse events in 3 patients (13.6%). Conclusion: The results from this small study suggest that aripiprazole was moderately effective in reducing psychotic symptoms in these Korean children and adolescents with EOSS. PMID:24683228

  6. Atypical Teratoid/Rhabdoid Tumor of the Sellar Region in an Adult With Long Survival: Case Report and Review of the Literature

    PubMed Central

    Almalki, Mussa Hussain; Alrogi, Ashjan; Al-Rabie, Abdulkarim; Al-Dandan, Sadeq; Altwairgi, Abdullah; Orz, Yasser

    2017-01-01

    Atypical teratoid/rhabdoid tumor (AT/RT) is a highly malignant central nervous system neoplasm usually diagnosed in young children, although it can occur in adults. Prognosis for AT/RT is poor, with a median survival of 10 - 11 months. We report a rare case of adult sellar and suprasellar AT/RT in a 36-year-old female patient. She was treated with multi-modalities including surgery, chemotherapy and radiation. She markedly improved following treatment with no recurrence in 3 years follow-up. To our knowledge, this is the 11th case of an adult-onset AT/RT in the sellar or suprasellar region with favorable long-term outcome. PMID:28179970

  7. Adult onset-hypothyroidism: alterations in hippocampal field potentials in the dentate gyrus are largely associated with anaesthesia-induced hypothermia.

    PubMed

    Sánchez-Huerta, K; Pacheco-Rosado, J; Gilbert, M E

    2015-01-01

    Thyroid hormone (TH) is essential for a number of physiological processes and is particularly critical during nervous system development. The hippocampus is strongly implicated in cognition and is sensitive to developmental hypothyroidism. The impact of TH insufficiency in the foetus and neonate on hippocampal synaptic function has been fairly well characterised. Although adult onset hypothyroidism has also been associated with impairments in cognitive function, studies of hippocampal synaptic function with late onset hypothyroidism have yielded inconsistent results. In the present study, we report hypothyroidism induced by the synthesis inhibitor propylthiouracil (10 p.p.m., 0.001%, minimum of 4 weeks), resulted in marginal alterations in excitatory postsynaptic potential (EPSP) and population spike (PS) amplitude in the dentate gyrus measured in vivo. No effects were seen in tests of short-term plasticity, and a minor enhancement of long-term potentiation of the EPSP slope was observed. The most robust synaptic alteration evident in hypothyroid animals was an increase in synaptic response latency, which was paralleled by a failure to maintain normal body temperature under anaesthesia, despite warming on a heating pad. Latency shifts could be reversed in hypothyroid animals by increasing the external heat source and, conversely, synaptic delays could be induced in control animals by removing the heat source, with a consequent drop in body and brain temperature. Thermoregulation is TH- dependent, and anaesthesia necessary for surgical procedures posed a thermoregulatory challenge that was differentially met in control and hypothyroid animals. Minor increases in field potential EPSP slope, decreases in PS amplitudes and increased latencies are consistent with previous reports of hypothermia in naive control rats. We conclude that failures in thyroid-dependent temperature regulation rather than direct action of TH in synaptic physiology are responsible for the

  8. Adults with Intellectual Impairment Who Stammer: A Clinical Case Study

    ERIC Educational Resources Information Center

    Stansfield, Jois; Collier, Ruth; King, Ruth

    2012-01-01

    Adults with intellectual impairments have a high prevalence of stammering. Characteristic speech and associated behaviours are also different in quality and more variable between individuals than those of the typical adult population. This paper describes a speech and language therapy group with two adults with intellectual impairments and…

  9. Adult Education in Transition: Three Cases and Periods Compared

    ERIC Educational Resources Information Center

    Engesbak, Heidi; Tonseth, Christin; Fragoso, Antonio; Lucio-Villegas, Emilio

    2010-01-01

    The focus of this article is the development of adult education. As Kjell Rubenson maintains, adult education has gone through three eras of development: the humanistic, the strong economic period and a softer version of the economic period. Based on this model, we examine whether the development of adult education has similarities across…

  10. Juvenile onset spondyloarthropathies: therapeutic aspects

    PubMed Central

    Burgos-Vargas, R

    2002-01-01

    Juvenile onset spondyloarthropathy (SpA) is a term that refers to a group of human leucocyte antigen (HLA)-B27 associated inflammatory disorders affecting children under the age of 16 years, producing a continuum of clinical symptoms through adulthood. This disease is characterised by enthesopathy and arthropathy affecting the joints of the lower extremities and seronegativity for IgM rheumatoid factor and antinuclear antibodies. Children usually present with undifferentiated SpA and progress to differentiated forms over time. Except for the prevalence of some clinical features at onset, the pathogenic and clinical aspects of juvenile onset SpAs resemble those of the adult disease. Thus application of the same or similar therapeutic measures for both juvenile and adult onset SpAs seems logical. Current treatments for juvenile onset SpA provide symptomatic improvement, but do not alter disease progression. The increased expression of tumour necrosis factor alpha (TNFα) in synovial tissue of patients with adult and juvenile onset SpA and its correlation with infiltration of inflammatory mediators into the synovia suggest a significant pathogenic role of this cytokine. Clinical trials of anti-TNFα antibody (infliximab) therapy in patients with adult onset SpA have demonstrated significant clinical improvement in inflammatory pain, function, disease activity, and quality of life in correlation with histological and immunohistochemical evidence of modulation of synovial inflammatory processes. These promising findings suggest that anti-TNFα therapy may confer similar benefits in patients with juvenile onset SpA. PMID:12381509

  11. An adult case of urinary tract infection with Kingella kingae: a case report

    PubMed Central

    2009-01-01

    Introduction Kingella kingae, though part of the normal upper respiratory tract and genitourinary tract, is increasingly being recognized as an important human pathogen. During the past decade, it has emerged as a significant pathogen in the pediatric age group primarily causing bacteremia and osteoarticular infections. Adult infection usually occurs in individuals who are severely immunocompromised and most infections have taken the form of septicemia or septic arthritis. Bacteremia due to K. kingae has been reported as the immediate cause of death in patients with acquired immunodeficiency syndrome. Case presentation We present a microbiologically confirmed urinary tract infection with K. kingae in an immunocompetent 45-year-old adult woman with post-menopausal bleeding and with a history of clots. Her urine was subjected to culture and sensitivity tests. The isolated colonies were identified as K. kingae because of their typical culture characteristics such as long incubation period required for growth, beta-hemolysis, positive oxidase and negative catalase, urease indole, nitrate and citrate tests. Penicillin G disc test was positive. They were sensitive to all conventional antibiotics. Conclusion K. kingae infection is a rare occurrence in immunocompetent adults. Very few cases of microbiologically confirmed infections have been reported so far. The isolation of K. kingae from urine sample has rarely been reported. K. kingae isolates are either missed or misinterpreted by clinical microbiologists. Therefore, K. kingae deserves recognition as a pathogen. PMID:19830146

  12. [A recurrent case of adult favus successfully treated with terbinafine].

    PubMed

    Erkan, Deniz; Kolukırık, İlkay; Acar, Alpaslan; Kandemir, Hazal; İlkit, Macit

    2015-10-01

    Favus or tinea capitis favosa, is a chronic inflammatory dermatophytosis of the scalp. The disease is particularly common in children aged 6 to 10 years, more often in boys, and it also occurs in adults. Human-to-human transmission is therefore possible. Anthropophilic Trichophyton schöenleinii is responsible for over 95% of favus cases. In addition, there are rare cases of anthropophilic T.violaceum, zoophilic (T.verrucosum, T.quinckeanum, and Microsporum canis) and geophilic M.gypseum species recorded as agents of favus. It is also reported in mice (T.quinckeanum), poultry (M.gallinae), and cats (M.incurvatum). Favus is common in Iran, Nigeria, and China, however it has been reported rarely in the last two decades in Turkey. Although Turkish records are not sufficient to indicate an accurate incidence rate, favus is still present in Turkey. In this report, a 20-year-old female with favus was presented. She had squames and areas of alopecia on the right frontoparietal area of her scalp. Scalp biopsy and hair follicle samples were taken for histopathological examination and fungal culture. According to the conventional identification by mycological methods and internal transcribed spacer (ITS) sequencing analysis, the pathogen was identified as T.schöenleinii. The patient was treated with oral terbinafine (250 mg/day) for 4 weeks and topical isoconazole and ketoconazole for 6 weeks. Clinical recovery was observed after 6 weeks, however, fungal culture could not be repeated. Six months after the initial presentation, the patient's symptoms recurred due to the poor adherence and T.schöenleinii was repeatedly grown in culture. Antifungal treatment was administered with the same drugs for the same period. There was a clinical and mycological recovery 8 months after initial presentation. Favus, which is not frequently observed in adults, is an uncommon disease. Confusion arises in its diagnosis because other diseases have similar clinical appearances, and

  13. Reversal of childhood idiopathic scoliosis in an adult, without surgery: a case report and literature review

    PubMed Central

    2009-01-01

    Background Some patients with mild or moderate thoracic scoliosis (Cobb angle <50-60 degrees) suffer disproportionate impairment of pulmonary function associated with deformities in the sagittal plane and reduced flexibility of the spine and chest cage. Long-term improvement in the clinical signs and symptoms of childhood onset scoliosis in an adult, without surgical intervention, has not been documented previously. Case presentation A diagnosis of thoracic scoliosis (Cobb angle 45 degrees) with pectus excavatum and thoracic hypokyphosis in a female patient (DOB 9/17/52) was made in June 1964. Immediate spinal fusion was strongly recommended, but the patient elected a daily home exercise program taught during a 6-week period of training by a physical therapist. This regime was carried out through 1992, with daily aerobic exercise added in 1974. The Cobb angle of the primary thoracic curvature remained unchanged. Ongoing clinical symptoms included dyspnea at rest and recurrent respiratory infections. A period of multimodal treatment with clinical monitoring and treatment by an osteopathic physician was initiated when the patient was 40 years old. This included deep tissue massage (1992-1996); outpatient psychological therapy (1992-1993); a daily home exercise program focused on mobilization of the chest wall (1992-2005); and manipulative medicine (1994-1995, 1999-2000). Progressive improvement in chest wall excursion, increased thoracic kyphosis, and resolution of long-standing respiratory symptoms occurred concomitant with a >10 degree decrease in Cobb angle magnitude of the primary thoracic curvature. Conclusion This report documents improved chest wall function and resolution of respiratory symptoms in response to nonsurgical approaches in an adult female, diagnosed at age eleven years with idiopathic scoliosis. PMID:20003501

  14. A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)

    DOE PAGES

    Giorgio, E.; Robyr, D.; Spielmann, M.; ...

    2015-02-20

    Chromosomal rearrangements with duplication of the lamin B1 (LMNB1) gene underlie autosomal dominant adult-onset demyelinating leukodystrophy (ADLD), a rare neurological disorder in which overexpression of LMNB1 causes progressive central nervous system demyelination. However, we previously reported an ADLD family (ADLD-1-TO) without evidence of duplication or other mutation in LMNB1 despite linkage to the LMNB1 locus and lamin B1 overexpression. By custom array-CGH, we further investigated this family and report here that patients carry a large (~660 kb) heterozygous deletion that begins 66 kb upstream of the LMNB1 promoter. Lamin B1 overexpression was confirmed in further ADLD-1-TO tissues and in amore » postmortem brain sample, where lamin B1 was increased in the frontal lobe. Through parallel studies, we investigated both loss of genetic material and chromosomal rearrangement as possible causes of LMNB1 overexpression, and found that ADLD-1-TO plausibly results from an enhancer adoption mechanism. The deletion eliminates a genome topological domain boundary, allowing normally forbidden interactions between at least three forebrain-directed enhancers and the LMNB1 promoter, in line with the observed mainly cerebral localization of lamin B1 overexpression and myelin degeneration. Finally, this second route to LMNB1 overexpression and ADLD is a new example of the relevance of regulatory landscape modifications in determining Mendelian phenotypes.« less

  15. Iron Deficiency Anemia in Adult Onset Still's Disease with a Serum Ferritin of 26,387 μg/L.

    PubMed

    Patel, Sheetal; Monemian, Seyed; Khalid, Ayesha; Dosik, Harvey

    2011-01-01

    Serum ferritin rises in the anemia of chronic inflammation reflecting increased iron storage and other changes mediated by inflammation. When iron deficiency coexists, the ferritin may not always decline into the subnormal range. We describe the rare interaction of iron deficiency with the extreme hyperferritinemia characteristic of adult onset Still's disease. The combination has clinical relevance and allows deductions about the presence of serum ferritin at 26,387 μg/L despite obvious iron depletion. The diagnosis of iron deficiency anemia was delayed and became fully obvious when her Still's disease remitted and serum ferritin decreased to 6.5 μg/L. The coexistence of iron deficiency should be considered when evaluating a patient with anemia of chronic inflammation even when the ferritin level is elevated several hundredfold. Further insights on ferritin metabolism in Still's disease are suggested by the likelihood that the patient's massive hyperferritinemia in the acute phase of Still's disease was almost entirely of the iron-free apoferritin form.

  16. A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)

    PubMed Central

    Giorgio, Elisa; Robyr, Daniel; Spielmann, Malte; Ferrero, Enza; Di Gregorio, Eleonora; Imperiale, Daniele; Vaula, Giovanna; Stamoulis, Georgios; Santoni, Federico; Atzori, Cristiana; Gasparini, Laura; Ferrera, Denise; Canale, Claudio; Guipponi, Michel; Pennacchio, Len A.; Antonarakis, Stylianos E.; Brussino, Alessandro; Brusco, Alfredo

    2015-01-01

    Chromosomal rearrangements with duplication of the lamin B1 (LMNB1) gene underlie autosomal dominant adult-onset demyelinating leukodystrophy (ADLD), a rare neurological disorder in which overexpression of LMNB1 causes progressive central nervous system demyelination. However, we previously reported an ADLD family (ADLD-1-TO) without evidence of duplication or other mutation in LMNB1 despite linkage to the LMNB1 locus and lamin B1 overexpression. By custom array-CGH, we further investigated this family and report here that patients carry a large (∼660 kb) heterozygous deletion that begins 66 kb upstream of the LMNB1 promoter. Lamin B1 overexpression was confirmed in further ADLD-1-TO tissues and in a postmortem brain sample, where lamin B1 was increased in the frontal lobe. Through parallel studies, we investigated both loss of genetic material and chromosomal rearrangement as possible causes of LMNB1 overexpression, and found that ADLD-1-TO plausibly results from an enhancer adoption mechanism. The deletion eliminates a genome topological domain boundary, allowing normally forbidden interactions between at least three forebrain-directed enhancers and the LMNB1 promoter, in line with the observed mainly cerebral localization of lamin B1 overexpression and myelin degeneration. This second route to LMNB1 overexpression and ADLD is a new example of the relevance of regulatory landscape modifications in determining Mendelian phenotypes. PMID:25701871

  17. Mutations in zebrafish lrp2 result in adult-onset ocular pathogenesis that models myopia and other risk factors for glaucoma.

    PubMed

    Veth, Kerry N; Willer, Jason R; Collery, Ross F; Gray, Matthew P; Willer, Gregory B; Wagner, Daniel S; Mullins, Mary C; Udvadia, Ava J; Smith, Richard S; John, Simon W M; Gregg, Ronald G; Link, Brian A

    2011-02-01

    The glaucomas comprise a genetically complex group of retinal neuropathies that typically occur late in life and are characterized by progressive pathology of the optic nerve head and degeneration of retinal ganglion cells. In addition to age and family history, other significant risk factors for glaucoma include elevated intraocular pressure (IOP) and myopia. The complexity of glaucoma has made it difficult to model in animals, but also challenging to identify responsible genes. We have used zebrafish to identify a genetically complex, recessive mutant that shows risk factors for glaucoma including adult onset severe myopia, elevated IOP, and progressive retinal ganglion cell pathology. Positional cloning and analysis of a non-complementing allele indicated that non-sense mutations in low density lipoprotein receptor-related protein 2 (lrp2) underlie the mutant phenotype. Lrp2, previously named Megalin, functions as an endocytic receptor for a wide-variety of bioactive molecules including Sonic hedgehog, bone morphogenic protein 4, retinol-binding protein, vitamin D-binding protein, and apolipoprotein E, among others. Detailed phenotype analyses indicated that as lrp2 mutant fish age, many individuals--but not all--develop high IOP and severe myopia with obviously enlarged eye globes. This results in retinal stretch and prolonged stress to retinal ganglion cells, which ultimately show signs of pathogenesis. Our studies implicate altered Lrp2-mediated homeostasis as important for myopia and other risk factors for glaucoma in humans and establish a new genetic model for further study of phenotypes associated with this disease.

  18. Feasibility of teaching motivational interviewing to parents of young adults with recent-onset schizophrenia and co-occurring cannabis use.

    PubMed

    Smeerdijk, Maarten; Keet, René; de Haan, Lieuwe; Barrowclough, Christine; Linszen, Don; Schippers, Gerard

    2014-03-01

    This study examined the feasibility of providing motivational interviewing (MI) training to parents of young adults with recent-onset schizophrenia and co-occurring cannabis use. The training was offered in a mental health care setting as part of a family motivational intervention (FMI). Ninety-seven parents were randomly assigned to either FMI or routine family support (RFS). To obtain a measure of parent's MI skills at baseline and 3 months after they completed FMI, their role-play interactions with an actor portraying their child were coded. The coding method had satisfactory inter-rater reliability and internal consistency. At follow-up, parents in FMI showed significantly greater adherence to (p=.03) and competence in (p=.04) MI than parents in RFS. Parents in FMI also demonstrated significantly greater increases in expressing empathy (p=.01). These results demonstrate that FMI is a feasible method for increasing MI skills in parents. Additional research is needed to better understand the unique application of MI to parent-child interactions.

  19. Mutations in Zebrafish lrp2 Result in Adult-Onset Ocular Pathogenesis That Models Myopia and Other Risk Factors for Glaucoma

    PubMed Central

    Veth, Kerry N.; Willer, Jason R.; Collery, Ross F.; Gray, Matthew P.; Willer, Gregory B.; Wagner, Daniel S.; Mullins, Mary C.; Udvadia, Ava J.; Smith, Richard S.; John, Simon W. M.; Gregg, Ronald G.; Link, Brian A.

    2011-01-01

    The glaucomas comprise a genetically complex group of retinal neuropathies that typically occur late in life and are characterized by progressive pathology of the optic nerve head and degeneration of retinal ganglion cells. In addition to age and family history, other significant risk factors for glaucoma include elevated intraocular pressure (IOP) and myopia. The complexity of glaucoma has made it difficult to model in animals, but also challenging to identify responsible genes. We have used zebrafish to identify a genetically complex, recessive mutant that shows risk factors for glaucoma including adult onset severe myopia, elevated IOP, and progressive retinal ganglion cell pathology. Positional cloning and analysis of a non-complementing allele indicated that non-sense mutations in low density lipoprotein receptor-related protein 2 (lrp2) underlie the mutant phenotype. Lrp2, previously named Megalin, functions as an endocytic receptor for a wide-variety of bioactive molecules including Sonic hedgehog, Bone morphogenic protein 4, retinol-binding protein, vitamin D-binding protein, and apolipoprotein E, among others. Detailed phenotype analyses indicated that as lrp2 mutant fish age, many individuals—but not all—develop high IOP and severe myopia with obviously enlarged eye globes. This results in retinal stretch and prolonged stress to retinal ganglion cells, which ultimately show signs of pathogenesis. Our studies implicate altered Lrp2-mediated homeostasis as important for myopia and other risk factors for glaucoma in humans and establish a new genetic model for further study of phenotypes associated with this disease. PMID:21379331

  20. A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)

    SciTech Connect

    Giorgio, E.; Robyr, D.; Spielmann, M.; Ferrero, E.; Di Gregorio, E.; Imperiale, D.; Vaula, G.; Stamoulis, G.; Santoni, F.; Atzori, C.; Gasparini, L.; Ferrera, D.; Canale, C.; Guipponi, M.; Pennacchio, L. A.; Antonarakis, S. E.; Brussino, A.; Brusco, A.

    2015-02-20

    Chromosomal rearrangements with duplication of the lamin B1 (LMNB1) gene underlie autosomal dominant adult-onset demyelinating leukodystrophy (ADLD), a rare neurological disorder in which overexpression of LMNB1 causes progressive central nervous system demyelination. However, we previously reported an ADLD family (ADLD-1-TO) without evidence of duplication or other mutation in LMNB1 despite linkage to the LMNB1 locus and lamin B1 overexpression. By custom array-CGH, we further investigated this family and report here that patients carry a large (~660 kb) heterozygous deletion that begins 66 kb upstream of the LMNB1 promoter. Lamin B1 overexpression was confirmed in further ADLD-1-TO tissues and in a postmortem brain sample, where lamin B1 was increased in the frontal lobe. Through parallel studies, we investigated both loss of genetic material and chromosomal rearrangement as possible causes of LMNB1 overexpression, and found that ADLD-1-TO plausibly results from an enhancer adoption mechanism. The deletion eliminates a genome topological domain boundary, allowing normally forbidden interactions between at least three forebrain-directed enhancers and the LMNB1 promoter, in line with the observed mainly cerebral localization of lamin B1 overexpression and myelin degeneration. Finally, this second route to LMNB1 overexpression and ADLD is a new example of the relevance of regulatory landscape modifications in determining Mendelian phenotypes.

  1. Highly Expression of CD11b and CD32 on Peripheral Blood Mononuclear Cells from Patients with Adult-Onset Still’s Disease

    PubMed Central

    Kim, Hyoun-Ah; Choi, Bunsoon; Suh, Chang-Hee; Han, Mi Hwa; Jung, Ju-Yang; Sayeed, Hasan M.; Kim, Ye Won; Sohn, Seonghyang

    2017-01-01

    Background: We investigated the potential role of several pattern-recognition receptors (PRRs; CD11b, CD11c, CD32, CD206, CD209, and dectin-1) in adult-onset Still’s disease (AOSD). Methods: The study included 13 untreated AOSD patients, 19 rheumatoid arthritis (RA) patients (as a disease control), and 19 healthy controls (HCs). The PRRs were quantified in peripheral blood using flow cytometry. The serum levels of interleukin-17 (IL-17), IL-18, and IL-23 were measured by enzyme-linked immunosorbent assay. Results: Significantly higher mean frequencies of cells presenting CD11b and CD32 from whole blood were observed in patients with AOSD than in patients with RA or HC. The levels of IL-17, IL-18, and IL-23 were elevated in AOSD patients compared to HCs. CD11b frequencies from whole cells correlated with systemic scores, lactate dehydrogenase (LDH) levels, aspartate transaminase levels, interleukin-23 (IL-23) levels, and IL-18. Frequencies of CD209 from granulocytes were significantly correlated with systemic scores, and the erythrocyte sedimentation rate and levels of C-reactive protein, ferritin, LDH, IL-23, and interleukin-18 (IL-18). Conclusions: Elevated frequencies of circulating CD11b-positive cells and positive correlations with disease activity markers suggest that circulating CD11b-positive cells contribute to the pathogenesis of AOSD. PMID:28106835

  2. A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD).

    PubMed

    Giorgio, Elisa; Robyr, Daniel; Spielmann, Malte; Ferrero, Enza; Di Gregorio, Eleonora; Imperiale, Daniele; Vaula, Giovanna; Stamoulis, Georgios; Santoni, Federico; Atzori, Cristiana; Gasparini, Laura; Ferrera, Denise; Canale, Claudio; Guipponi, Michel; Pennacchio, Len A; Antonarakis, Stylianos E; Brussino, Alessandro; Brusco, Alfredo

    2015-06-01

    Chromosomal rearrangements with duplication of the lamin B1 (LMNB1) gene underlie autosomal dominant adult-onset demyelinating leukodystrophy (ADLD), a rare neurological disorder in which overexpression of LMNB1 causes progressive central nervous system demyelination. However, we previously reported an ADLD family (ADLD-1-TO) without evidence of duplication or other mutation in LMNB1 despite linkage to the LMNB1 locus and lamin B1 overexpression. By custom array-CGH, we further investigated this family and report here that patients carry a large (∼660 kb) heterozygous deletion that begins 66 kb upstream of the LMNB1 promoter. Lamin B1 overexpression was confirmed in further ADLD-1-TO tissues and in a postmortem brain sample, where lamin B1 was increased in the frontal lobe. Through parallel studies, we investigated both loss of genetic material and chromosomal rearrangement as possible causes of LMNB1 overexpression, and found that ADLD-1-TO plausibly results from an enhancer adoption mechanism. The deletion eliminates a genome topological domain boundary, allowing normally forbidden interactions between at least three forebrain-directed enhancers and the LMNB1 promoter, in line with the observed mainly cerebral localization of lamin B1 overexpression and myelin degeneration. This second route to LMNB1 overexpression and ADLD is a new example of the relevance of regulatory landscape modifications in determining Mendelian phenotypes.

  3. ALS-linked TDP-43 mutations produce aberrant RNA splicing and adult-onset motor neuron disease without aggregation or loss of nuclear TDP-43.

    PubMed

    Arnold, Eveline S; Ling, Shuo-Chien; Huelga, Stephanie C; Lagier-Tourenne, Clotilde; Polymenidou, Magdalini; Ditsworth, Dara; Kordasiewicz, Holly B; McAlonis-Downes, Melissa; Platoshyn, Oleksandr; Parone, Philippe A; Da Cruz, Sandrine; Clutario, Kevin M; Swing, Debbie; Tessarollo, Lino; Marsala, Martin; Shaw, Christopher E; Yeo, Gene W; Cleveland, Don W

    2013-02-19

    Transactivating response region DNA binding protein (TDP-43) is the major protein component of ubiquitinated inclusions found in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) with ubiquitinated inclusions. Two ALS-causing mutants (TDP-43(Q331K) and TDP-43(M337V)), but not wild-type human TDP-43, are shown here to provoke age-dependent, mutant-dependent, progressive motor axon degeneration and motor neuron death when expressed in mice at levels and in a cell type-selective pattern similar to endogenous TDP-43. Mutant TDP-43-dependent degeneration of lower motor neurons occurs without: (i) loss of TDP-43 from the corresponding nuclei, (ii) accumulation of TDP-43 aggregates, and (iii) accumulation of insoluble TDP-43. Computational analysis using splicing-sensitive microarrays demonstrates alterations of endogenous TDP-43-dependent alternative splicing events conferred by both human wild-type and mutant TDP-43(Q331K), but with high levels of mutant TDP-43 preferentially enhancing exon exclusion of some target pre-mRNAs affecting genes involved in neurological transmission and function. Comparison with splicing alterations following TDP-43 depletion demonstrates that TDP-43(Q331K) enhances normal TDP-43 splicing function for some RNA targets but loss-of-function for others. Thus, adult-onset motor neuron disease does not require aggregation or loss of nuclear TDP-43, with ALS-linked mutants producing loss and gain of splicing function of selected RNA targets at an early disease stage.

  4. An Adult Case of Anti-Myelin Oligodendrocyte Glycoprotein (MOG) Antibody-associated Multiphasic Acute Disseminated Encephalomyelitis at 33-year Intervals.

    PubMed

    Numa, Soichiro; Kasai, Takashi; Kondo, Takayuki; Kushimura, Yukie; Kimura, Ayaka; Takahashi, Hisashi; Morita, Kanako; Tanaka, Akihiro; Noto, Yu-Ichi; Ohara, Tomoyuki; Nakagawa, Masanori; Mizuno, Toshiki

    2016-01-01

    Acute disseminated encephalomyelitis (ADEM) followed by optic neuritis (ON) has been reported as a distinct phenotype associated with anti-myelin oligodendrocyte protein (MOG) antibody. We herein report the case of a 37-year-old woman who was diagnosed with ADEM at 4 years old of age and who subsequently developed ON followed by recurrent ADEM 33 years after the initial onset. A serum analysis showed anti-MOG antibody positivity. This phenotype has only previously been reported in pediatric cases. Neurologists thus need to be aware that the phenotype may occur in adult patients, in whom it may be assumed to be atypical multiple sclerosis.

  5. A Case Study of Spirituality in Senior Center Education: Qualitative Research in Adult Education

    ERIC Educational Resources Information Center

    Demarse, Laura

    2016-01-01

    This article presents a case study on the role of spirituality in adult education at a suburban senior center located in the southeast region of the country. The purpose of the case study was to understand the deeply personal role of spirituality in adult education as seen through teaching seniors and examine the personal manifestation of…

  6. First case report of Neisseria lactamica causing cavitary lung disease in an adult organ transplant recipient.

    PubMed

    Zavascki, Alexandre Prehn; Fritscher, Leandro; Superti, Silvana; Dias, Cícero; Kroth, Leonardo; Traesel, Moacir Alexandre; Antonello, Ivan Carlos Ferreira; Saitovitch, David

    2006-07-01

    We describe a case of an adult organ recipient patient with a pulmonary cavitary lesion due to Neisseria lactamica, a harmless commensal organism that rarely causes human infection. To our knowledge, this is the first report of pulmonary disease caused by this organism and the second case of N. lactamica infection in an adult patient.

  7. Two cases of diaper area granuloma of the adult.

    PubMed

    Fujita, M; Ohno, S; Danno, K; Miyachi, Y

    1991-11-01

    Two cases of diaper area granuloma are reported. Patient 1, a 34-year-old man, had multiple reddish-purple nodules over the diaper area of the right part of the genitocrural region. Candida albicans was not detected from the lesion. Histological examination of the nodule showed acanthosis and dense infiltrates. The granulomas became smaller and flatter after the control of urination. Patient 2, a 28-year-old man, had two large decubitus lesions and multiple nodules over the diaper area of the gluteal region. The decubitus became smaller and the granulomas disappeared after the lesion was kept clean. Because these granulomas resemble granuloma gluteale infantum, but occurred in adults rather than in the aged or infants, we propose to call this condition "granuloma gluteale adultorum." We suggest that these granulomas may represent an inflammatory reaction to the irritation of urine or feces. It is, therefore, of great importance to treat and prevent this condition by controlling the flow of urine and keeping the region clean.

  8. Hepatoblastoma in adult age. A case report and literature review.

    PubMed

    Remes-Troche, José M; Montaño-Loza, Aldo; Meza-Junco, Judith; García-Leiva, Jorge; Torre-Delgadillo, Aldo

    2006-01-01

    Hepatoblastoma (HB) rarely occurs in adults. We report herein the unusual case of a 19-year-old, otherwise healthy woman with no history of liver disease who presented with upper abdominal pain and hepatomegaly. Tests for hepatitis B virus (HBV), hepatitis C virus (HCV) were negative, and AFP was normal. There was no evidence of liver cirrhosis. A welldemarcated solid mass of 14 cm in diameter, which was lobulated and partly necrotic, was detected in the liver by computed tomography (CT). At surgical exploration a large liver mass was detected occupying the entire right lobe. A right trisegmentectomy was performed with tumor grossly resected with microscopic residual disease (i.e positive margins). On microscopic examination the tumor was composed mainly of two components which were intermingled: epithelial and mesenchymal elements. The epithelial component was formed of small embryonal cells, grouped into nodules, scattered in cellular mesenchymal tissue. The diagnosis was mixed hepatoblastoma. The patient received 4 cycles of systemic chemotherapy with cisplatinum and adriamycin. Post-chemotherapy evaluation revealed recurrence of the hepatoblastoma in the remaining liver. She died 6 months later.

  9. Clinical and laboratory analysis of late-onset glutaric aciduria type I (GA-I) in Uighur: A report of two cases

    PubMed Central

    Zhang, Xiaoying; Luo, Qiong

    2017-01-01

    The aim of the present study was to investigate the clinical, biochemical and genetic mutation characteristics of two cases of late-onset glutaric aciduria type I (GA-I) in Uighur. The clinical data and glutaryl-CoA dehydrogenase (GCDH) genetic test results of two cases of late-onset GA-I in Uighur were collected and analyzed, and reviewed with relevant literature. One patient with late-onset GA-I primarily exhibited clinical intermittent headache, while the other patient was asymptomatic. The urinary organic acid analysis detected a large number of glutaric acid and 3-hydroxy glutaric acid, 3-hydroxy-propionic acid. One patient exhibited white matter degeneration in cranial magnetic resonance imaging (MRI) and the other patient showed no abnormality. The two patients both exhibited c. 1204C >T, p.R402W, heterozygous mutation, and c. 532G >A, p.G178R, heterozygous mutation. Besides central nervous system infectious diseases, patients with clinical headache, cranial MRI-suggested bilateral temporal lobe arachnoid cyst and abnormal signals in the basal ganglia should be highly suspected as late-onset GA-I. Early diagnosis and correct treatment are key to improve its prognosis. PMID:28352331

  10. Adult Education in Small States: The Case of Malta

    ERIC Educational Resources Information Center

    Mayo, Peter; Pace, Paul J.; Zammit, Edward

    2008-01-01

    A small state faces several challenges with regard to adult continuing education and training. The paper discusses some of these challenges with specific reference to the Mediterranean small island state of Malta. It starts with a general discussion of some of the issues affecting adult education in a small state such as Malta that paves the way…

  11. Functional and Structural Analyses of CYP1B1 Variants Linked to Congenital and Adult-Onset Glaucoma to Investigate the Molecular Basis of These Diseases

    PubMed Central

    Chakrabarti, Saikat; Ray, Kunal

    2016-01-01

    Glaucoma, the leading cause of irreversible blindness, appears in various forms. Mutations in CYP1B1 result in primary congenital glaucoma (PCG) by an autosomal recessive mode of inheritance while it acts as a modifier locus for primary open angle glaucoma (POAG). We investigated the molecular basis of the variable phenotypes resulting from the defects in CYP1B1 by using subclones of 23 CYP1B1 mutants reported in glaucoma patients, in a cell based system by measuring the dual activity of the enzyme to metabolize both retinol and 17β-estradiol. Most variants linked to POAG showed low steroid metabolism while null or very high retinol metabolism was observed in variants identified in PCG. We examined the translational turnover rates of mutant proteins after the addition of cycloheximide and observed that the levels of enzyme activity mostly corroborated the translational turnover rate. We performed extensive normal mode analysis and molecular-dynamics-simulations-based structural analyses and observed significant variation of fluctuation in certain segmental parts of the mutant proteins, especially at the B-C and F-G loops, which were previously shown to affect the dynamic behavior and ligand entry/exit properties of the cytochrome P450 family of proteins. Our molecular study corroborates the structural analysis, and suggests that the pathologic state of the carrier of CYP1B1 mutations is determined by the allelic state of the gene. To our knowledge, this is the first attempt to dissect biological activities of CYP1B1 for correlation with congenital and adult onset glaucomas. PMID:27243976

  12. Metabolic Disturbances in Adult-Onset Still’s Disease Evaluated Using Liquid Chromatography/Mass Spectrometry-Based Metabolomic Analysis

    PubMed Central

    Chen, Der-Yuan; Hsieh, Chia-Wei; Chen, Hsin-Hua; Hung, Wei-Ting

    2016-01-01

    Objective Liquid chromatography/mass spectrometry (LC/MS)-based comprehensive analysis of metabolic profiles with metabolomics approach has potential diagnostic and predictive implications. However, no metabolomics data have been reported in adult-onset Still’s disease (AOSD). This study investigated the metabolomic profiles in AOSD patients and examined their association with clinical characteristics and disease outcome. Methods Serum metabolite profiles were determined on 32 AOSD patients and 30 healthy controls (HC) using ultra-performance liquid chromatography (UPLC)/MS analysis, and the differentially expressed metabolites were quantified using multiple reactions monitoring (MRM)/MS analysis in 44 patients and 42 HC. Pure standards were utilized to confirm the presence of the differentially expressed metabolites. Results Eighteen differentially expressed metabolites were identified in AOSD patents using LC/MS-based analysis, of which 13 metabolites were validated by MRM/MS analysis. Among them, serum levels of lysoPC(18:2), urocanic acid and indole were significantly lower, and L-phenylalanine levels were significantly higher in AOSD patients compared with HC. Moreover, serum levels of lysoPC(18:2), PhePhe, uridine, taurine, L-threonine, and (R)-3-Hydroxy-hexadecanoic acid were significantly correlated with disease activity scores (all p<0.05) in AOSD patients. A different clustering of metabolites was associated with a different disease outcome, with significantly lower levels of isovalerylsarcosine observed in patients with chronic articular pattern (median, 77.0AU/ml) compared with monocyclic (341.5AU/ml, p<0.01) or polycyclic systemic pattern (168.0AU/ml, p<0.05). Conclusion Thirteen differentially expressed metabolites identified and validated in AOSD patients were shown to be involved in five metabolic pathways. Significant associations of metabolic profiles with disease activity and outcome of AOSD suggest their involvement in AOSD pathogenesis. PMID

  13. Adult onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) and Nasu-Hakola disease: lesion staging and dynamic changes of axons and microglial subsets.

    PubMed

    Oyanagi, Kiyomitsu; Kinoshita, Michiaki; Suzuki-Kouyama, Emi; Inoue, Teruhiko; Nakahara, Asa; Tokiwai, Mika; Arai, Nobutaka; Satoh, Jun-Ichi; Aoki, Naoya; Jinnai, Kenji; Yazawa, Ikuru; Arai, Kimihito; Ishihara, Kenji; Kawamura, Mitsuru; Ishizawa, Keisuke; Hasegawa, Kazuko; Yagisita, Saburo; Amano, Naoji; Yoshida, Kunihiro; Terada, Seishi; Yoshida, Mari; Akiyama, Haruhiko; Mitsuyama, Yoshio; Ikeda, Shu-Ichi

    2016-09-08

    The brains of 10 Japanese patients with adult onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) encompassing hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD) and eight Japanese patients with Nasu-Hakola disease (N-HD) and five age-matched Japanese controls were examined neuropathologically with special reference to lesion staging and dynamic changes of microglial subsets. In both diseases, the pathognomonic neuropathological features included spherically swollen axons (spheroids and globules), axon loss and changes of microglia in the white matter. In ALSP, four lesion stages based on the degree of axon loss were discernible: Stage I, patchy axon loss in the cerebral white matter without atrophy; Stage II, large patchy areas of axon loss with slight atrophy of the cerebral white matter and slight dilatation of the lateral ventricles; Stage III, extensive axon loss in the cerebral white matter and dilatation of the lateral and third ventricles without remarkable axon loss in the brainstem and cerebellum; Stage IV, devastated cerebral white matter with marked dilatation of the ventricles and axon loss in the brainstem and/or cerebellum. Internal capsule and pontine base were relatively well preserved in the N-HD, even at Stage IV, and the swollen axons were larger with a higher density in the ALSP. Microglial cells immunopositive for CD68, CD163 or CD204 were far more obvious in ALSP, than in N-HD, and the shape and density of the cells changed in each stage. With progression of the stage, clinical symptoms became worse to apathetic state, and epilepsy was frequently observed in patients at Stages III and IV in both diseases. From these findings, it is concluded that (i) shape, density and subsets of microglia change dynamically along the passage of stages and (ii) increase of IBA-1-, CD68-, CD163- and CD204-immunopositive cells precedes loss of axons in ALSP.

  14. ALS-linked TDP-43 mutations produce aberrant RNA splicing and adult-onset motor neuron disease without aggregation or loss of nuclear TDP-43

    PubMed Central

    Arnold, Eveline S.; Ling, Shuo-Chien; Huelga, Stephanie C.; Lagier-Tourenne, Clotilde; Polymenidou, Magdalini; Ditsworth, Dara; Kordasiewicz, Holly B.; McAlonis-Downes, Melissa; Platoshyn, Oleksandr; Parone, Philippe A.; Da Cruz, Sandrine; Clutario, Kevin M.; Swing, Debbie; Tessarollo, Lino; Marsala, Martin; Shaw, Christopher E.; Yeo, Gene W.; Cleveland, Don W.

    2013-01-01

    Transactivating response region DNA binding protein (TDP-43) is the major protein component of ubiquitinated inclusions found in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) with ubiquitinated inclusions. Two ALS-causing mutants (TDP-43Q331K and TDP-43M337V), but not wild-type human TDP-43, are shown here to provoke age-dependent, mutant-dependent, progressive motor axon degeneration and motor neuron death when expressed in mice at levels and in a cell type-selective pattern similar to endogenous TDP-43. Mutant TDP-43-dependent degeneration of lower motor neurons occurs without: (i) loss of TDP-43 from the corresponding nuclei, (ii) accumulation of TDP-43 aggregates, and (iii) accumulation of insoluble TDP-43. Computational analysis using splicing-sensitive microarrays demonstrates alterations of endogenous TDP-43–dependent alternative splicing events conferred by both human wild-type and mutant TDP-43Q331K, but with high levels of mutant TDP-43 preferentially enhancing exon exclusion of some target pre-mRNAs affecting genes involved in neurological transmission and function. Comparison with splicing alterations following TDP-43 depletion demonstrates that TDP-43Q331K enhances normal TDP-43 splicing function for some RNA targets but loss-of-function for others. Thus, adult-onset motor neuron disease does not require aggregation or loss of nuclear TDP-43, with ALS-linked mutants producing loss and gain of splicing function of selected RNA targets at an early disease stage. PMID:23382207

  15. TLR4 Endogenous Ligand S100A8/A9 Levels in Adult-Onset Still’s Disease and Their Association with Disease Activity and Clinical Manifestations

    PubMed Central

    Kim, Hyoun-Ah; Han, Jae Ho; Kim, Woo-Jung; Noh, Hyun Jin; An, Jeong-Mi; Yim, Hyunee; Jung, Ju-Yang; Kim, You-Sun; Suh, Chang-Hee

    2016-01-01

    S100A8/A9 has been suggested as a marker of disease activity in patients with adult-onset Still’s disease (AOSD). We evaluated the clinical significance of S100A8/A9 as a biomarker and its pathogenic role in AOSD. Blood samples were collected prospectively from 20 AOSD patients and 20 healthy controls (HCs). Furthermore, skin and lymph node biopsy specimens of AOSD patients were investigated for S100A8/A9 expression levels via immunohistochemistry. Peripheral blood mononuclear cells (PBMCs) of active AOSD patients and HCs were investigated for S100A8/A9 cell signals. S100A8/A9, interleukin-1β (IL-1β), and tumor necrosis factor-α (TNF-α) levels in active AOSD patients were higher than those of HCs. S100A8/A9 levels correlated positively with IL-1β, TNF-α and C-reactive protein. The inflammatory cells expressing S100A8/A9 were graded from one to three in skin and lymph node biopsies of AOSD patients. The grading for S100A8/A9 was more intense in the skin lesions with karyorrhexis, mucin deposition, and neutrophil infiltration. Like lipopolysaccharide (LPS), S100A8/A9 induced phosphorylation of p38 and c-Jun amino-terminal kinase (JNK) in PBMCs, suggesting that S100A8/A9 activates Toll-like receptor 4 signaling pathways. These findings suggest that S100A8/A9 may be involved in the inflammatory response with induction of proinflammatory cytokines and may serve as a clinicopathological marker for disease activity in AOSD. PMID:27537874

  16. Clinical improvement and radiological progression in a girl with early onset scoliosis (EOS) treated conservatively – a case report

    PubMed Central

    Weiss, Hans-Rudolf

    2006-01-01

    Background Chêneau-Brace treatment of a certain standard reduces the rate of surgery, prevents progression and in a certain patient population leads to marked improvement of Cobb angle and cosmetic appearance. During the last two years a patient refusing surgery with a double major curvature of initially 60° showed a clear cosmetic improvement and a clear radiological progression at the same time. The findings of this patient have been reviewed in order to find out how cosmetic appearance and Cobb angle can develop differently. Methods The patient entered conservative treatment at the age of 13 years, premenarchial with Tanner II and a Cobb angle of 60° thoracic and 59° lumbar. The angle of trunk rotation (ATR; Scoliometer) was 13° thoracic and 13° lumbar. We have documented the findings of this patient (Surface topography, ATR, Cobb angles and angles of vertebral rotation (according to Raimondi) during the treatment period (27 Month) until 2 years after the onset of menarche. Results After a treatment time of 27 Month the Cobb angle increased to 74° thoracic and 65° lumbar. The angles of vertebral rotation according to Raimondi increased slightly from 26° thoracic and 28° lumbar to 30° thoracic and 28° lumbar. The ATR improved to 12° thoracic and 5° lumbar while Lateral deviation improved from 22,4 mm to 4,6 mm and average surface rotation improved from 10,6° to 6°. In the X-rays a reduction of decompensation was visible. The patient felt comfortable with the cosmetic result. Conclusion Conservative treatment may improve cosmetic appearance while the curve progresses radiologically. This could be explained by assuming that (1) the Rigo Chêneau brace is able to improve cosmetic appearance by changing the shape of the thorax when the curve itself is too stiff to be corrected by a brace, that (2) reduction of decompensation leads to significant cosmetical improvements or (3) that the patient gained weight and therefore the deformation is masked

  17. Neurobiology of Childhood-Onset Schizophrenia

    ERIC Educational Resources Information Center

    Biswas, Parthasarathy

    2008-01-01

    In the last decade there has been an exponential increase in studies on neurobiological measures in childhood-onset schizophrenia (COS). There seems to be a consensus that structural changes in COS are more marked than in adolescence-onset (AdOS) or adult-onset schizophrenia (AOS). Atrophy of total brain volume is progressive throughout the course…

  18. Risk of Narcolepsy after AS03 Adjuvanted Pandemic A/H1N1 2009 Influenza Vaccine in Adults: A Case-Coverage Study in England

    PubMed Central

    Stowe, Julia; Andrews, Nicholas; Kosky, Christopher; Dennis, Gary; Eriksson, Sofia; Hall, Andrew; Leschziner, Guy; Reading, Paul; Shneerson, John M.; Donegan, Katherine; Miller, Elizabeth

    2016-01-01

    Study Objectives: An increased risk of narcolepsy has been observed in children following ASO3-adjuvanted pandemic A/H1N1 2009 (Pandemrix) vaccine. We investigated whether this risk extends to adults in England. Methods: Six adult sleep centers in England were visited between November 2012 and February 2014 and vaccination/clinical histories obtained from general practitioners. Suspected narcolepsy cases aged older than 17 y were selected. The risk of narcolepsy following Pandemrix was calculated using cases diagnosed by the time of the center visits and those with a diagnosis by November 30, 2011 after which there was increased awareness of the risk in children. The odds of vaccination in cases and in matched population data were compared using a case-coverage design. Results: Of 1,446 possible cases identified, most had onset before 2009 or were clearly not narcolepsy. Of the 60 remaining cases, 20 were excluded after expert review, leaving 40 cases with narcolepsy; 5 had received Pandemrix between 3 and 18 mo before onset. All the vaccinated cases had cataplexy, two received a diagnosis by November 2011 and two were aged 40 y or older. The odds ratio for vaccination in cases compared to the population was 4.24 (95% confidence interval 1.45–12.38) using all cases and 9.06 (1.90–43.17) using cases with a diagnosis by November 2011, giving an attributable risk of 0.59 cases per 100,000 doses. Conclusions: We found a significantly increased risk of narcolepsy in adults following Pandemrix vaccination in England. The risk was lower than that seen in children using a similar study design. Citation: Stowe J, Andrews N, Kosky C, Dennis G, Eriksson S, Hall A, Leschziner G, Reading P, Shneerson JM, Donegan K, Miller E. Risk of narcolepsy after AS03 adjuvanted pandemic A/H1N1 2009 influenza vaccine in adults: a case-coverage study in England. SLEEP 2016;39(5):1051–1057. PMID:26856903

  19. Anti-rPru p 3 IgE levels are inversely related to the age at onset of peach-induced severe symptoms reported by peach-allergic adults.

    PubMed

    Pastorello, Elide Anna; Farioli, Laura; Stafylaraki, Chrysi; Mascheri, Ambra; Scibilia, Joseph; Pravettoni, Valerio; Primavesi, Laura; Piantanida, Marta; Nichelatti, Michele; Asero, Riccardo

    2013-01-01

    Sensitisation to peach lipid transfer protein (LTP; Pru p 3) is significantly associated with severe allergic symptoms in adults, but little is known about the age at onset of peach allergy. We investigated a possible correlation between specific IgE levels to Pru p 3 and the age at onset of peach allergy. One hundred and forty-eight patients allergic to peach were divided into 6 classes according to the age at onset. Sera were analyzed for IgE antibodies to peach, rPru p 3, rPru p 1, rPru p 4, rBet v 1, rBet v 2, total IgE titre, and tryptase; all collected data were statistically analysed. A significant inverse correlation was found between the age at onset of peach allergy and anti-rPru p 3 IgE levels at diagnosis (p < 0.0005; Spearman's ρ = -0.3833). In contrast, the age at onset was directly correlated with both anti-rPru p 1 IgE levels (p = 0.0001; Spearman's ρ = 0.3197) and anti-rBet v 1 IgE levels (p = 0.0006; Spearman's ρ = 0.2914) at diagnosis. No correlations were detected between the reported age at onset and anti-peach, anti-rPru p 4, anti-rBet v 2 IgE and total IgE values and serum tryptase levels. At diagnosis, when peach allergy starts at a younger age, it is likely associated with Pru p 3 sensitisation, and the younger the onset, the higher the IgE titres. When peach allergy starts at an older age, it is more likely the result of cross-reactivity to Bet v1.

  20. Adult-onset deficiency in growth hormone and insulin-like growth factor-I decreases survival of dentate granule neurons: insights into the regulation of adult hippocampal neurogenesis.

    PubMed

    Lichtenwalner, Robin J; Forbes, M Elizabeth; Sonntag, William E; Riddle, David R

    2006-02-01

    Insulin-like growth factor-I (IGF-I), long thought to provide critical trophic support during development, also has emerged as a candidate for regulating ongoing neuronal production in adulthood. Whether and how IGF-I influences each phase of neurogenesis, however, remains unclear. In the current study, we used a selective model of growth hormone (GH) and plasma IGF-I deficiency to evaluate the role of GH and IGF-I in regulating cell proliferation, survival, and neuronal differentiation in the adult dentate gyrus. GH/IGF-I-deficient dwarf rats of the Lewis strain were made GH/IGF-I replete throughout development via twice daily injections of GH, and then GH/IGF-I deficiency was initiated in adulthood by removing animals from GH treatment. Bromodeoxyuridine (BrdU) labeling revealed no effect of GH/IGF-I deficiency on cell proliferation, but adult-onset depletion of GH and plasma IGF-I significantly reduced the survival of newly generated cells in the dentate gyrus. Colabeling for BrdU and markers of immature and mature neurons revealed a selective effect of GH/IGF-I deficiency on the survival of more mature new neurons. The number of BrdU-labeled cells expressing the immature neuronal marker TUC-4 did not differ between GH/IGF-I-deficient and -replete animals, but the number expressing only the marker of maturity NeuN was lower in depleted animals. Taken together, results from the present study suggest that, under conditions of short-term GH/IGF-I deficiency during adulthood, dentate granule cells continue to be produced, to commit to a neuronal fate, and to begin the process of neuronal maturation, whereas survival of the new neurons is impaired.

  1. Two cases of group A streptococcal vulvovaginitis in premenopausal adults in a sexual health setting.

    PubMed

    Bray, Susan; Morgan, Jane

    2006-09-01

    Two cases of group A streptococcus (GAS) causing vulvovaginitis in premenopausal adults are described. A review of the literature of genital GAS is made, as this is an uncommon cause of vulvovaginitis in premenopausal adults. Contrasts are made between anogenital carriage of GAS and group B streptococcus (GBS) to highlight the differences in anogenital carriage between these two organisms.

  2. Adult Financial Literacy Education and Latina Learners: A Qualitative Case Study

    ERIC Educational Resources Information Center

    Sprow, Karin Millard

    2010-01-01

    This qualitative study used a case study design to explore the teaching and learning that takes place in an adult Latino financial literacy education that was aimed specifically at Latina single mothers. The theoretical framework of the study was informed by a blend of critical and Latina feminist sociocultural adult learning perspectives, as well…

  3. Adult Health Learning and Transformation: A Case Study of a Canadian Community-Based Program

    ERIC Educational Resources Information Center

    Coady, Maureen

    2013-01-01

    This article describes a case study of adult learning in a Canadian multisite Community Cardiovascular Hearts in Motion program. The researcher highlights the informal learning of 40 adult participants in this 12-week community-based cardiac rehabilitation/education program in five rural Nova Scotia communities. The effects of this learning and…

  4. The Social-Sexual Voice of Adults with Mild Intellectual Disabilities: A Qualitative Case Study

    ERIC Educational Resources Information Center

    Turner, George W.

    2012-01-01

    The purpose of this qualitative case study was to explore how adults with mild intellectual disabilities live out their social-sexual lives. Adults with intellectual disabilities (ID) are often assumed to be asexual or incapable of having sexual lives, resulting in a paucity of research-based knowledge. Research and educational efforts with this…

  5. World Perspective Case Descriptions on Educational Programs for Adults: Federal Republic of Germany.

    ERIC Educational Resources Information Center

    Bugl, Helmut; And Others

    This document contains the following case studies of West German adult education projects: (1) Counseling Courses in Agriculture (Bugl, Fehrenbach-Neumann); (2) The State Center for Political Education in Baden-Wurttemberg (Schiele); (3) Catholic Educational Organization Rottweil (Muller); (4) Adult Education Center--Herrenberg (Werner); (5)…

  6. A Case Control Study of Suicide and Attempted Suicide in Older Adults.

    ERIC Educational Resources Information Center

    Beautrais, Annette L.

    2002-01-01

    Risk factors for serious suicidal behavior among older adults were examined in a case control study of adults aged 55 and older who died by suicide or made suicide attempts and who were compared with randomly selected comparison subjects. Multivariate analyses suggested that mood disorders were the most significant risk factor for suicidal…

  7. Orbital sporadic Burkitt lymphoma in an adult diabetic African American female and a review of adult orbital cases

    PubMed Central

    Carmody, John; Misra, Raghunath P; Langford, Marlyn P; Byrd, William A; Ditta, Lauren; Vekovius, Bryan; Texada, Donald E

    2011-01-01

    A case of sporadic Burkitt lymphoma (sBL) presenting with jaw and lid involvement in a diabetic adult African American female and a review of adult orbital Burkitt lymphoma cases are presented. Lid edema, visual loss, ophthalmoparesis, proptosis, and sinusitis progressed over 4 weeks despite antibiotic and steroid treatment. Upper lid biopsy histopathological evaluation and immunophenotyping revealed a homogenous mass of atypical CD10 and CD20-negative B-cells and tingible body macrophages yielding a “starry sky” appearance. Cytogenetic analysis detected a minor variant c-MYC translocation, but no Epstein–Barr virus RNA. Detection of multiple lesions prompted a diagnosis of stage IV disease that totally regressed following radiation and chemotherapy. Review results of the six adult orbital sBL cases support a poor prognosis and a heightened suspicion of variant CD10, CD20 and BCL6 positive sBL in adults presenting with jaw pain and rapidly progressive orbital symptoms, particularly in female, African American, and diabetic patients. PMID:21573040

  8. A case report of adult lead toxicity following use of Ayurvedic herbal medication

    PubMed Central

    2013-01-01

    Introduction Ayurvedic medications consist of herbs that may be intentionally combined with metals, such as lead, mercury, iron, and zinc. Ayurvedic practitioners and their patients believe that the toxic properties of the metals are reduced or eliminated during preparation and processing. Case report A 69 year old Caucasian male retired professional with a prior history of stroke presented for evaluation of new onset depression, fatigue, generalized weakness, constipation, anorexia, and weight loss. History revealed that his symptoms were temporally related to initiation of an Ayurvedic herbal medication. The patient had been previously admitted to another hospital for these symptoms and was found to have a severe anemia for which no etiology was found. Laboratory tests revealed an elevated blood lead level and a diagnosis of symptomatic lead toxicity was made. The patient was treated with intramuscular, intravenous, and oral chelation therapy to promote lead excretion. Because of complaints of continued poor mental function, neuropsychological tests were administered before and after one of the chelation treatments and showed improvement in measures of attention and other cognitive domains. In addition, the patient was able to discontinue use of antidepressant medication after chelation. Discussion A high index of suspicion of metal toxicity is necessary among persons with characteristic symptoms and signs in the absence of occupational exposure. Despite limited evidence for chelation in adults and in those with modest blood lead levels, this patient appeared to benefit from repeated chelation therapy. Both allopathic and alternative medicine practitioners and public health specialists need to be aware of the potential for contamination of and side effects from alternative pharmacologic and herbal therapies. PMID:24083830

  9. Management of progressive late onset scoliosis with magnetic growth rod insertion leading to improvement of neural anomalies—a case report

    PubMed Central

    Zaveri, Amit; Pace, Valerio; Bhagawati, Dimpu; Muthukumar, Thillainayagam; Noordeen, Hilali

    2016-01-01

    Background To present the first known reported case of late onset idiopathic scoliosis with concomitant neural anomalies, treated with sequential distraction using magnetic growth rod, had significant improvement in both cranio-cervical and intraspinal anomaly. Methods A caucasian, growing female child (at the age of ten) presented with moderately progressive late onset right thoracic scoliosis. She was found to have Chiari type I malformation and a cervicothoracic syrinx on routine pre-operative MRI scanning. We treated this child by inserting magnetic growing rod (MGR) system. After 48 months of follow up with serial distractions, the metalwork (MGR) was removed due to aseptic wound breakdown and granuloma formation. Subsequently due to the progression of deformity, a definitive posterior instrumented spinal fusion was done. A repeat MRI Scan of the Spine was done prior to this definitive procedure to assess for any residual neural anomalies. Results The Chiari type I malformation appeared to have completely resolved, with no cerebellar tonsillar herniation seen, and a significant improvement in the size of the cervicothoracic syringomyelia effectively downgrading it to a prominent central canal. Conclusions This is a unique case of progressive late onset idiopathic scoliosis with associated Chiari malformation and syringomyelia, showing an improvement in these neural anomalies after gradual and protracted distractive lengthening of the spine with MGR. PMID:28097251

  10. Perinatal vitamin D levels are not associated with later risk of developing pediatric-onset inflammatory bowel disease: a Danish case-cohort study.

    PubMed

    Thorsen, Steffen U; Jakobsen, Christian; Cohen, Arieh; Lundqvist, Marika; Thygesen, Lau C; Pipper, Christian; Ascherio, Alberto; Svensson, Jannet

    2016-08-01

    Objective Basic and epidemiologic studies on inflammatory bowel disease (IBD) have suggested an association between vitamin D and IBD risk. Though, the literature on IBD - especially pediatric-onset IBD - and vitamin D is still in its cradle. We therefore wanted to examine if levels of 25(OH)D at birth were associated with increased risk of developing pediatric-onset IBD. Material and methods A case-cohort study composed of cases diagnosed with Crohn's disease, ulcerative colitis or indeterminate/unclassified colitis and healthy controls. Cases and controls were matched on date of birth and were born in the period 1981-2004. Cases were diagnosed before the age of 18 years. The concentration of 25(OH)D was assessed from neonatal dried blood spots using a highly sensitive liquid chromatography tandem mass spectrometry. Odds ratios (OR) were calculated using conditional logistic regression and two-way ANOVA were used to test for season and birth year 25(OH)D variations. A total of 384 matched pairs were included in the statistical analyses. Results No significant association were found between levels of 25(OH)D and IBD risk in the adjusted model (OR [95% CI] (per 25 nmol/L increase), 1.12 [0.88; 1.42], p = 0.35). 25(OH)D levels were found to fluctuate significantly with season (p < 0.001) and year (p < 0.001). Median/Q1-Q3 values for 25(OH)D were 27.1/16.5-39.5 nmol/L for cases and 25.7/16.1-39.4 nmol/L for controls. Conclusion Our study do not suggest that a window of vulnerability exist around time of birth in regards to 25(OH)D levels and later pediatric-onset IBD risk.

  11. [Some aspects of the orthodontic-prosthetic approach for adult patients. A case report].

    PubMed

    Fábián, G; Gáspár, J; Fábián, T K

    2000-08-01

    Authors present a case report of an adult patient treated with the combination of orthodontic and prosthetic treatment methods. The importance of periodontal and psychological management of such patients is pointed out.

  12. Psychosis, Treatment Emergent Extrapyramidal Events, and Subsequent Onset of Huntington’s Disease: A Case Report and Review of the Literature

    PubMed Central

    Xu, Changqing; Yogaratnam, Jegan; Tan, Nigel; Sim, Kang

    2016-01-01

    Huntington’s disease (HD) is an autosomal dominant neurodegenerative disease characterized by a triad of progressive motor dysfunction, cognitive decline and psychiatric disturbances. The hallmark of HD is the distinctive choreiform movement disorder that typically has a subtle, insidious onset in the fourth to fifth decade of life and gradually worsens over 10 to 20 years until death. Notably, two-thirds of HD patients present with chorea and one third with mental changes. The prevalence of psychiatric symptoms is significantly higher than in the general population, and is estimated to be around 66–73%. Here, we report a unique case of subsequent onset of HD in a patient previously treated for schizophrenia and complicated by the extrapyramidal side effects to antipsychotics. PMID:27489386

  13. Successful Management of New-Onset Diabetes Mellitus and Obesity With the Use of Laparoscopic Sleeve Gastrectomy After Kidney Transplantation-A Case Report.

    PubMed

    Chen, J-H; Lee, C-H; Chang, C-M; Yin, W-Y

    2016-04-01

    In kidney transplantation, obesity is associated with poorer graft survival and patient survival. Bariatric surgery may provide benefit for these patients, not only by inducing weight loss, but also via reduction of diabetes. We report a case of morbid obesity, poorly controlled new-onset diabetes mellitus, and gout after kidney transplantation that was treated with laparoscopic sleeve gastrectomy 3 years after kidney transplantation. After 1 year of follow-up, 76% excessive body weight loss was attained. No complications were noted. The operation also provided total remission of diabetes and gout as well as good graft survival. Based on our experience, laparoscopic sleeve gastrectomy may be a feasible treatment for obese patients after renal transplantation to help resolve obesity and control new-onset diabetes. However, the timing of operation and the long-term potential for graft and patient survivals with this operation require further study.

  14. Molecular Features and Methylation Status in Early Onset (≤40 Years) Colorectal Cancer: A Population Based, Case-Control Study

    PubMed Central

    Magnani, Giulia; Furlan, Daniela; Sahnane, Nora; Reggiani Bonetti, Luca; Domati, Federica; Pedroni, Monica

    2015-01-01

    Colorectal cancer is usually considered a disease of the elderly. However, a small fraction of patients develops colorectal cancer earlier. The aim of our study was to define the frequency of known hereditary colorectal syndromes and to characterise genetic and epigenetic features of early nonhereditary tumors. Thirty-three patients ≤40 years with diagnosis of colorectal cancer and 41 patients with disease at >60 years of age were investigated for MSI, Mismatch Repair proteins expression, KRAS and BRAF mutations, hypermethylation, and LINE-1 hypomethylation. Detection of germline mutations was performed in Mismatch Repair, APC and MUTYH genes. Early onset colorectal cancer showed a high incidence of hereditary forms (18%). KRAS mutations were detected in 36% of early nonhereditary tumors. Early onset colorectal cancer disclosed an average number of methylated genes significantly lower when compared to the controls (p = 0.02). Finally both of the two groups were highly methylated in ESR1, GATA5, and WT1 genes and were similar for LINE-1 hypomethylation. The genetic make-up of carcinomas differs from young to elderly patients. Early onset tumors showed more frequently a constitutional defective of Mismatch Repair System and a minor number of methylated genes. Hypermethylation of ESR1, GATA5, and WT1 genes suggests possible markers in the earlier diagnosis of colorectal tumorigenesis. PMID:26557847

  15. Sacro-coccygeal teratoma in adult: Two rare case reports and review of literature.

    PubMed

    Kumar, Narendra; Khosla, Divya; Kumar, Ritesh; Saikia, Uma Nahar; Singh, Sk

    2014-07-01

    The sacrococcygeal area is the most common site of extragonadal teratomas in infants, but is a challenge to make clinical as well as radiological diagnosis in adults. We herein describe two cases of sacrococcygeal teratoma (SCT) in adult. The clinical, radiological and histopathological characteristics of both the cases with their outcome are described with review of the literature. The standard care for SCTs is complete surgical resection of the tumor. The presence of malignant transformation is associated with a less favorable outcome.

  16. Sex-comparative study of mouse cerebellum physiology under adult-onset hypothyroidism: The significance of GC-MS metabolomic data normalization in meta-analysis.

    PubMed

    Maga-Nteve, Christoniki; Vasilopoulou, Catherine G; Constantinou, Caterina; Margarity, Marigoula; Klapa, Maria I

    2017-01-15

    A systematic data quality validation and normalization strategy is an important component of the omic profile meta-analysis, ensuring comparability of the profiles and exclusion of experimental biases from the derived biological conclusions. In this study, we present the normalization methodology applied on the sets of cerebellum gas chromatography-mass spectrometry metabolic profiles of 124days old male and female animals in an adult-onset-hypothyroidism (AOH) mouse model before combining them into a sex-comparative analysis. The employed AOH model concerns the monitoring of the brain physiology of Balb/cJ mice after eight-week administration of 1%w/v KClO4 in the drinking water, initiated on the 60th day of their life. While originating from the same animal study, the tissues of the two sexes were processed and their profiles acquired and analyzed at different time periods. Hence, the previously published profile set of male mice was first re-annotated based on the presently available resources. Then, after being validated as acquired under the same analytical conditions, both profiles sets were corrected for derivatization biases and filtered for low-confidence measurements based on the same criteria. The final normalized 73-metabolite profiles contribute to the currently few available omic datasets of the AOH effect on brain molecular physiology, especially with respect to sex differentiation. Multivariate statistical analysis indicated one (unknown) and three (succinate, benzoate, myristate) metabolites with significantly higher and lower, respectively, cerebellum concentration in the hypothyroid compared to the euthyroid female mice. The respective numbers for the males were two and 24. Comparison of the euthyroid cerebellum metabolic profiles between the two sexes indicated 36 metabolites, including glucose, myo- and scyllo-inositol, with significantly lower concentration in the females versus the males. This implies that the female mouse cerebellum has been

  17. Localization of the fourth locus (GLC1E) for adult-onset primary open-angle glaucoma to the 10p15-p14 region.

    PubMed Central

    Sarfarazi, M; Child, A; Stoilova, D; Brice, G; Desai, T; Trifan, O C; Poinoosawmy, D; Crick, R P

    1998-01-01

    One of the major causes of blindness is primary open-angle glaucoma, which affects millions of elderly people worldwide. Genetic studies have so far mapped three loci for the adult-onset form of this condition to the 2cen-q13, 3q21-q24, and 8q23 regions. Herein, we report the localization of a fourth locus, to the 10p15-p14 region, in one large British family with a classical form of normal-tension open-angle glaucoma. Of the 42 meioses genotyped in this pedigree, 39 subjects (16 affected) inherited a haplotype compatible with their prior clinical designation, whereas the remaining 3 were classified as unknown. Although a maximum LOD score of 10.00 at a recombination fraction of straight theta=.00 was obtained with D10S1216, 21 other markers provided significant values, varying between 3.77 and 9.70. When only the affected meioses of this kindred were analyzed, LOD scores remained statistically significant, ranging from 3.16 (D10S527) to 3.57 (D10S506). Two critical recombinational events in the affected subjects positioned this new locus to a region of approximately 21 cM, flanked by D10S1729 and D10S1664. However, an additional recombination in a 59-year-old unaffected female suggests that this locus resides between D10S585 (or D10S1172) and D10S1664, within a genetic distance of 5-11 cM. However, the latter minimum region must be taken cautiously, because the incomplete penetrance has previously been documented for this group of eye conditions. A partial list of genes that positionally are considered as candidates includes NET1, PRKCT, ITIH2, IL2RA, IL15RA, IT1H2, hGATA3, the mRNA for open reading frame KIAA0019, and the gene for D123 protein. PMID:9497264

  18. Unusual early-onset Huntingtons disease.

    PubMed

    Vargas, Antonio P; Carod-Artal, Francisco J; Bomfim, Denise; Vázquez-Cabrera, Carolina; Dantas-Barbosa, Carmela

    2003-06-01

    Huntington's disease is an autosomal dominant progressive neurodegenerative disorder characterized by involuntary movements, cognitive decline, and behavioral disorders leading to functional disability. In contrast to patients with adult onset, in which chorea is the major motor abnormality, children often present with spasticity, rigidity, and significant intellectual decline associated with a more rapidly progressive course. An unusual early-onset Huntington's disease case of an 11-year-old boy with severe hypokinetic/rigid syndrome appearing at the age of 2.5 years is presented. Clinical diagnosis was confirmed by polymerase chain reaction study of the expanded IT-15 allele with a compatible size of 102 cytosine-adenosine-guanosine repeats L-Dopa mildly ameliorated rigidity, bradykinesia, and dystonia. We conclude that Huntington's disease should be included in the differential diagnoses of regressive syndromes of early childhood.

  19. Designing Adult Learning Strategies: The Case of South Eastern Europe

    ERIC Educational Resources Information Center

    Gunny, Madeleine; Viertel, Evelyn

    2006-01-01

    The importance of lifelong learning is generally well understood and few people today would query the need for adults to regularly update their skills in line with labour market needs, and for governments and social partners to provide an environment that supports skills acquisition and updating. However, it is clear when we look at data from the…

  20. Metastatic Tumor of the Spermatic Cord in Adults: A Case Report and Review

    PubMed Central

    Hirano, Daisaku; Ohkawa, Mizuho; Hasegawa, Ryo; Okada, Norimichi; Ishizuka, Naoki; Kusumi, Yoshiaki

    2015-01-01

    Metastatic spermatic cord (SC) tumor is extremely rare. Recently, we experienced a case of late-onset metastatic SC tumor from cecal cancer. This case is a 68-year-old man presenting with a painless right SC mass. He had undergone a right hemicolectomy for cecal cancer 6 years ago. Radical orchiectomy and adjuvant chemotherapy with S-1 were performed. No recurrence was found after one year of follow-up. We identified a total of 25 cases, including our case, on a literature search via PubMed from January 2000 to April 2015. The most frequent primary sites of the tumors metastasizing to the SC were the stomach (8 cases, 32%) and the colon (8 cases, 32%), next the liver (2 cases, 8%), and kidney (2 cases, 8%). The majority of the cases underwent radical orchiectomy for the metastatic tumors of the SC. Over half of the cases received adjuvant interventions based on the regimens for the primary tumors. Prognosis in the patients with metastatic tumor of the SC was unfavorable except for late-onset metastasis. In patients with a mass in the SC and a history of neoplasm, especially in gastrointestinal tract, the possibility of metastasis from the primary cancer should be considered. PMID:26770863

  1. Hemolytic disease of the fetus and newborn with late-onset anemia due to anti-M: a case report and review of the Japanese literature.

    PubMed

    Yasuda, Hiroyasu; Ohto, Hitoshi; Nollet, Kenneth E; Kawabata, Kinuyo; Saito, Shunnichi; Yagi, Yoshihito; Negishi, Yutaka; Ishida, Atsushi

    2014-01-01

    Hemolytic disease of the fetus and newborn (HDFN) attributed to M/N-incompatibility varies from asymptomatic to lethally hydropic. Case reports are rare, and the clinical significance of anti-M is not completely understood. A challenging case of HDFN due to anti-M prompted an investigation of the Japanese literature, in order to characterize the clinical spectrum of M/N-incompatibility pregnancies in Japan and report results to English-language readers. Japanese reports of HDFN attributed to M/N incompatibility were compiled. Abstracted data include maternal antibody titers at delivery, fetal direct antiglobulin test, hemoglobin, total bilirubin, reticulocyte count at birth, and therapeutic interventions. We investigated characteristics of HDFN due to M/N-incompatible pregnancies in Japan after encountering a case of severe HDFN along with late-onset anemia in an infant born to a woman carrying IgG anti-M with a titer of 1. In total, thirty-three babies with HDFN due to anti-M and one due to anti-N have been reported in Japan since 1975. The median maternal antibody titer was 64 at delivery and was 16 or less in 10 of 34 women (29%). Five of 34 babies (15%) were stillborn or died as neonates. Twenty-one of 29 survivors (72%) had severe hemolytic anemia and/or hydrops fetalis. The reticulocyte count of neonates with anemia stayed below the reference interval. Sixteen (55%) developed late-onset anemia and 14 (48%) were transfused with M-negative RBCs. Significant positive correlation (P < .05) between the hemoglobin value and the reticulocyte count within 4 days of birth was obtained in 16 babies with anti-M HDFN. In the Japanese population, 21 of 34 cases of M/N-incompatible HDFN (72%) have manifested as severe hemolytic anemia and/or hydrops fetalis. Low reticulocyte count in neonates with late-onset anemia is consistent with suppressed erythropoiesis due to anti-M.

  2. Surgical versus conservative management of adult intussusception: Case series and review

    PubMed Central

    Aydin, Nail; Roth, Andrew; Misra, Subhasis

    2016-01-01

    Introduction Intussusception is the telescoping of a segment of bowel into its adjacent segment. It is a known cause of abdominal pain in the pediatric population, however, it is rare in the adult. Adults do not always present with the typical symptoms seen in young children, making the clinical diagnosis more difficult. The etiology of adult intussusception can be idiopathic, benign, or malignant. Diagnosis is most accurately made with computed tomography, which is sensitive in detecting intussusception as well as potential lead points. Presentation of cases This study presents four adult patients with intussusception. The first three patients are adults with idiopathic intussusception and no evidence of a lead point. The fourth case involves intussusception secondary to a jejunal carcinoid tumor which was treated surgically. Each case has unique features in terms of length and number of intussusceptions, duration of symptoms, and recurrence. Discussion Surgical treatment was once argued to be universally appropriate for adult intussusceptions; however, with increased use of advanced imaging, newer literature is demonstrating that this is not true in all cases. Idiopathic intussusception presents with nonspecific symptoms and can be managed with supportive care when the history and clinical picture indicate low probability of a neoplasm. Conclusion This study aims to raise awareness to the potential diagnosis and management of intussusceptions, particularly the symptomatic idiopathic type in the young adult. PMID:26859872

  3. Synthetic Cannabis Overdose and Withdrawal in a Young Adult: A Case Report, Commentary on Regulation, and Review of the Literature.

    PubMed

    Samaan, John; Ferrer, Gerardo F; Akinyemi, Boye; Junquera, Patricia; Oms, Juan; Dumenigo, Rhaisa

    2016-01-01

    Introduction. Marijuana has been used for its psychotropic effects including enhanced relaxation and perceptual alterations. However, the use of synthetic marijuana (SM) leads to more frequent and drastic side effects than the typical use of regular marijuana, owing to the fact that SM has a shorter duration and an earlier peak of action. Despite all the potential adverse health effects associated with SM use, current health policies on SM are very limited. It is believed that the popularity of SM has increased, due to its easy accessibility in the US and lack of detection in typical urine drug screens for THC. Case Report. One case presented is of a young adult patient, with histories of recurrent synthetic cannabis and recreational cannabis use, who had developed drastic physiological and psychiatric symptoms, including the development of acute-onset psychosis. Conclusion/Discussion. This case, as many others nationwide, exemplifies the impact of synthetic cannabinoid use and abuse in adolescents. Side effects and adverse health consequences of synthetic cannabinoid use warrant stricter regulations and policies in order to decrease psychiatric hospital admissions and associated healthcare costs.

  4. Synthetic Cannabis Overdose and Withdrawal in a Young Adult: A Case Report, Commentary on Regulation, and Review of the Literature

    PubMed Central

    Ferrer, Gerardo F.; Akinyemi, Boye; Junquera, Patricia; Oms, Juan; Dumenigo, Rhaisa

    2016-01-01

    Introduction. Marijuana has been used for its psychotropic effects including enhanced relaxation and perceptual alterations. However, the use of synthetic marijuana (SM) leads to more frequent and drastic side effects than the typical use of regular marijuana, owing to the fact that SM has a shorter duration and an earlier peak of action. Despite all the potential adverse health effects associated with SM use, current health policies on SM are very limited. It is believed that the popularity of SM has increased, due to its easy accessibility in the US and lack of detection in typical urine drug screens for THC. Case Report. One case presented is of a young adult patient, with histories of recurrent synthetic cannabis and recreational cannabis use, who had developed drastic physiological and psychiatric symptoms, including the development of acute-onset psychosis. Conclusion/Discussion. This case, as many others nationwide, exemplifies the impact of synthetic cannabinoid use and abuse in adolescents. Side effects and adverse health consequences of synthetic cannabinoid use warrant stricter regulations and policies in order to decrease psychiatric hospital admissions and associated healthcare costs. PMID:27777807

  5. Effectiveness of long-acting injectable risperidone versus oral antipsychotics in the treatment of recent-onset schizophrenia: a case-control study.

    PubMed

    Barrio, Pablo; Batalla, Albert; Castellví, Pere; Hidalgo, Diego; García, Marta; Ortiz, Ana; Grande, Iria; Pons, Alexandre; Parellada, Eduard

    2013-07-01

    Long-acting injectable antipsychotics may offer a relevant improvement in treatment adherence in recent-onset psychosis, leading to a decreased rate of hospital readmission, a better rate of clinical remission and improved psychosocial adjustment. The aim of the study was to compare the clinical remission rates, number of hospital readmissions and personal and social functioning after 2 years between patients with recent-onset schizophrenia (<2 years) in treatment with risperidone long-acting injectable (RLAI) and patients with recent-onset schizophrenia receiving oral antipsychotics. This is a case-control study comparing patients with recent-onset schizophrenia who initiated RLAI treatment between 2004 and 2008 (n=26) with a control group matched for age and sex, diagnosed with recent-onset schizophrenia and treated with oral antipsychotics (n=26). Study assessments included sociodemographic variables, the Positive and Negative Syndrome Scale, the Personal and Social Functioning Scale, the number of hospital readmissions and the Andreasen remission criteria. To assess the effect of treatment on each dependent variable, separate generalized estimating equations models were constructed. After 2 years of treatment, and adjusting for educational level, the RLAI group showed a greater reduction in the Positive and Negative Syndrome Scale total scale [mean (SD)=47.7 (12.0) vs. 66.2 (18.5); mean difference =-17.56; 95% confidence interval (CI)=-27.11 to -8.00; P<0.001], as well as in the negative [mean (SD) 14.3 (6.1) vs. 19.4 (6.4); mean difference=-5.02; 95% CI=-8.28 to -1.77; P=0.002] and general psychopathology [mean (SD)=23.4 (6.3) vs. 32.7 (8.1); mean difference=-9.16; 95% CI=-13.3 to -5.03; P<0.001] subscales compared with the oral antipsychotic group. Personal and Social Functioning Scale scores were also higher in the RLAI group [mean (SD)=72.4 (14.8) vs. 59.7 (13.5); mean difference=13.41; 95% CI=5.65-21.18; P<0.001]. Although not statistically significant

  6. Ethnic minority, young onset, rare dementia type, depression: A case study of a Muslim male accessing UK dementia health and social care services.

    PubMed

    Regan, Jemma L

    2016-07-01

    A case study comprised of formal interviews, formal observations and informal discussions investigated the motivations and experiences accessing dementia care health and social care services for a Muslim, Pakistani male with dementia. Motivations derived from 'desperation' and an inability to access support from family or religious community. Experiences of accessing services were mostly negative. Dementia services were ill-informed about how to support persons with young onset dementia, with pre-existing mental health conditions, from an ethnic minority. Education and training to remove barriers to all dementia care services is required for persons with dementia, their families and within dementia services and religious communities.

  7. Delayed-onset ureteral obstruction after endoscopic dextranomer/hyaluronic acid copolymer (Deflux) injection for treatment of vesicoureteral reflux in children: a case series.

    PubMed

    Rubenwolf, Peter C; Ebert, Anne-Karoline; Ruemmele, Petra; Rösch, Wolfgang H

    2013-03-01

    We report 4 patients with upper urinary tract (UUT) obstruction requiring ureteric reimplantation at 1, 7, 28, and 63 months after dextranomer/hyaluronic acid copolymer (Dx/HA) injection for vesicoureteric reflux. Histopathologic evaluation of ureteric segments revealed extensive foreign body formation in all cases. We conclude that UUT obstruction is a rare but serious complication after Dx/HA injection that can occur even years after surgery. The incidence of delayed-onset UUT obstruction may be higher than previously noted. Long-term follow-up and a critical reappraisal of the method are needed to assess the late sequelae of Dx/HA injection therapy for vesicoureteric reflux.

  8. Tuberculosis case burden and treatment outcomes in children, adults and older adults, Vanuatu, 2007-2011.

    PubMed

    Tagaro, M; Harries, A D; Kool, B; Ram, S; Viney, K; Marais, B; Tarivonda, L

    2014-06-21

    Contexte : Les cinq centres DOTS du Vanuatu.Objectifs : Déterminer le fardeau de la tuberculose (TB) à travers les classes d'âge, le profil de la maladie et les résultats du traitement des patients enregistré entre 2007 et 2011.Schema : Etude de cohorte rétrospective impliquant des registres de TB et des cartes de traitement.Resultats : Sur 588 patients enregistrés, 142 (24%) étaient des enfants (âgés de 0–14 ans), 327 étaient des adultes (âgés de 15–54 ans) et 119 des adultes plus âgés (âgés de ⩾55 ans, subdivisés en 55–64 et ⩾65 ans). Parmi eux, 568 étaient des nouveaux patients, et 13 avaient déjà été traités ; pour 7 d'entre eux, le statut était inconnu. Comparés aux adultes, les enfants avec une TB nouvelle avaient une plus grande prévalence de TB extra pulmonaire (75% contre 34% ; OR 5,7 ; IC95% 3,6–9,0) et une prévalence plus faible de TB pulmonaire frottis positif (11% contre 45% ; OR 0,15 ; IC95% 0,3–0,3). Les adultes âgés de ⩾55 ans avaient une prévalence plus élevée de TB pulmonaire à frottis négatif (38% contre 21% ; OR 2,4 ; IC95% 1,5–3,8). Le succès du traitement de la TB a été de 83% pour l'ensemble du groupe, mais seulement de 67% pour les patients âgés de ⩾65 ans avec un taux de létalité de 18%.Conclusion : Les enfants et les adultes plus âgés constituent 45% du fardeau de la TB au Vanuatu. Les différences constatées en termes de profil de la maladie et de résultats thérapeutiques moins bons chez les adultes âgés ont des implications en matière de politique et de pratiques.

  9. A Case of Meningococcal Pyomyositis in an Otherwise Healthy Adult

    PubMed Central

    Barakat, Monique T.; Gajurel, Kiran; Fischer, Katrina; Stevens, Kathryn; Ozdalga, Errol; Montoya, José G.

    2016-01-01

    The clinical spectrum of Neisseria meningitidis can range from nasopharyngeal colonization to life-threatening invasive diseases such as meningitis. However, its etiologic role in invasive pyomyositis (PM) has never been reported before in the English language. In this study, we report the first case of PM in the English language and the second case in the literature caused by N meningitidis. PMID:27703989

  10. Health, Quality of Care and Quality of Life: A Case of Frail Older Adults

    ERIC Educational Resources Information Center

    Hsieh, Chang-Ming

    2009-01-01

    This study explores the relationship between health, quality of care of geriatric case management and quality of life for the purpose of furthering the understanding of the relationship between quality of life and geriatric case management. Using survey data from a group of frail older adults, this study assesses the relative merit of two…

  11. Late onset arginase deficiency presenting with encephalopathy and midbrain hyperintensity

    PubMed Central

    Maramattom, Boby Varkey; Raja, Rajat; Balagopal, Anuroop

    2016-01-01

    Urea cycle disorders (UCD) are very rare metabolic disorders that present with encephalopathy and hyperammonemia. Of the UCDs, Arginase deficiency (ARD) is the rarest and presents in childhood with a progressive spastic diplegia or seizures. Acute presentation in adulthood is extremely unusual.[1] We present the first case of adult onset ARD presenting with encephalopathy and diffusion weighted MRI findings that resembled a moustache in the midbrain. PMID:27570396

  12. APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases

    PubMed Central

    Lanoiselée, Hélène-Marie; Nicolas, Gaël; Wallon, David; Rovelet-Lecrux, Anne; Lacour, Morgane; Rousseau, Stéphane; Richard, Anne-Claire; Pasquier, Florence; Rollin-Sillaire, Adeline; Martinaud, Olivier; Quillard-Muraine, Muriel; de la Sayette, Vincent; Boutoleau-Bretonniere, Claire; Etcharry-Bouyx, Frédérique; Chauviré, Valérie; Sarazin, Marie; le Ber, Isabelle; Epelbaum, Stéphane; Jonveaux, Thérèse; Rouaud, Olivier; Ceccaldi, Mathieu; Félician, Olivier; Godefroy, Olivier; Formaglio, Maite; Croisile, Bernard; Auriacombe, Sophie; Chamard, Ludivine; Vincent, Jean-Louis; Sauvée, Mathilde; Marelli-Tosi, Cecilia; Gabelle, Audrey; Ozsancak, Canan; Pariente, Jérémie; Paquet, Claire; Hannequin, Didier; Campion, Dominique

    2017-01-01

    Background Amyloid protein precursor (APP), presenilin-1 (PSEN1), and presenilin-2 (PSEN2) mutations cause autosomal dominant forms of early-onset Alzheimer disease (AD-EOAD). Although these genes were identified in the 1990s, variant classification remains a challenge, highlighting the need to colligate mutations from large series. Methods and findings We report here a novel update (2012–2016) of the genetic screening of the large AD-EOAD series ascertained across 28 French hospitals from 1993 onwards, bringing the total number of families with identified mutations to n = 170. Families were included when at least two first-degree relatives suffered from early-onset Alzheimer disease (EOAD) with an age of onset (AOO) ≤65 y in two generations. Furthermore, we also screened 129 sporadic cases of Alzheimer disease with an AOO below age 51 (44% males, mean AOO = 45 ± 2 y). APP, PSEN1, or PSEN2 mutations were identified in 53 novel AD-EOAD families. Of the 129 sporadic cases screened, 17 carried a PSEN1 mutation and 1 carried an APP duplication (13%). Parental DNA was available for 10 sporadic mutation carriers, allowing us to show that the mutation had occurred de novo in each case. Thirteen mutations (12 in PSEN1 and 1 in PSEN2) identified either in familial or in sporadic cases were previously unreported. Of the 53 mutation carriers with available cerebrospinal fluid (CSF) biomarkers, 46 (87%) had all three CSF biomarkers—total tau protein (Tau), phospho-tau protein (P-Tau), and amyloid β (Aβ)42—in abnormal ranges. No mutation carrier had the three biomarkers in normal ranges. One limitation of this study is the absence of functional assessment of the possibly and probably pathogenic variants, which should help their classification. Conclusions Our findings suggest that a nonnegligible fraction of PSEN1 mutations occurs de novo, which is of high importance for genetic counseling, as PSEN1 mutational screening is currently performed in familial cases only

  13. Whooping Cough in Adults: A Series of Severe Cases.

    PubMed

    Zycinska, Katarzyna; Cieplak, M; Chmielewska, M; Nitsch-Osuch, A; Klaczkow, A; Hadzik-Blaszczyk, M; Kur, Z; Wardyn, K A

    2016-12-31

    Bordetella pertussis is a gram-negative aerobic coccobacillus causing contagious respiratory tract disease called whooping cough. The virulence factors consist of pertussis toxin, filamentous hemagglutinin, fimbriae, lipooligosaccharide, and adenylate cyclase toxin. The disease causes a worldwide threat to public health despite a high vaccination coverage. The course of whooping cough in adults is frequently atypical, causing difficulty in diagnosis. In this report we present five patients hospitalized with Bordetella pertussis infection manifesting atypical and severe symptoms. The diagnosis was based on serological tests: serum concentration of specific antibodies against pertussis toxin and sputum cultures. We observed a wide spectrum of symptoms, from benign (sinus pain - 80 %, headaches - 20 %), through moderate (hemoptysis - 40 %; chest pain 60 %) to severe symptoms (cardiac arrhythmia - 40 %; syncope - 60 %). Bordetella pertussis infection can cause life-threatening complications and exacerbation of concomitant chronic diseases. Most vaccination programs cover only the first few months of life. Booster doses should be considered in adults, especially those immunocompromised or with pulmonary complications, but also in healthcare workers who are exposed to the contagion and also may spread the infection.

  14. Do genetic factors protect for early onset lung cancer? A case control study before the age of 50 years

    PubMed Central

    Rosenberger, Albert; Illig, Thomas; Korb, Katrin; Klopp, Norman; Zietemann, Vera; Wölke, Gabi; Meese, Eckart; Sybrecht, Gerhard; Kronenberg, Florian; Cebulla, Matthias; Degen, Maria; Drings, Peter; Gröschel, Andreas; Konietzko, Nikolaus; Kreymborg, Karsten grosse; Häußinger, Karl; Höffken, Gerd; Jilge, Bettina; Ko, You-Dschun; Morr, Harald; Schmidt, Christine; Schmidt, E-Wilhelm; Täuscher, Dagmar; Bickeböller, Heike; Wichmann, H-Erich

    2008-01-01

    Background Early onset lung cancer shows some familial aggregation, pointing to a genetic predisposition. This study was set up to investigate the role of candidate genes in the susceptibility to lung cancer patients younger than 51 years at diagnosis. Methods 246 patients with a primary, histologically or cytologically confirmed neoplasm, recruited from 2000 to 2003 in major lung clinics across Germany, were matched to 223 unrelated healthy controls. 11 single nucleotide polymorphisms of genes with reported associations to lung cancer have been genotyped. Results Genetic associations or gene-smoking interactions was found for GPX1(Pro200Leu) and EPHX1(His113Tyr). Carriers of the Leu-allele of GPX1(Pro200Leu) showed a significant risk reduction of OR = 0.6 (95% CI: 0.4–0.8, p = 0.002) in general and of OR = 0.3 (95% CI:0.1–0.8, p = 0.012) within heavy smokers. We could also find a risk decreasing genetic effect for His-carriers of EPHX1(His113Tyr) for moderate smokers (OR = 0.2, 95% CI:0.1–0.7, p = 0.012). Considered both variants together, a monotone decrease of the OR was found for smokers (OR of 0.20; 95% CI: 0.07–0.60) for each protective allele. Conclusion Smoking is the most important risk factor for young lung cancer patients. However, this study provides some support for the T-Allel of GPX1(Pro200Leu) and the C-Allele of EPHX1(His113Tyr) to play a protective role in early onset lung cancer susceptibility. PMID:18298806

  15. [2 cases of adult celiac disease simulating Berger's disease].

    PubMed

    Usai, P; Cherchi, M V; Boy, M F; Cogoni, G; Santa Cruz, G; Balestrieri, A

    1989-03-01

    The authors describe two cases of celiac disease that simulated mesangial IgA nephropathy (Berger's disease). In both cases, gluten-free diet rapidly abated the histological and clinical picture, renal as well as intestinal. The authors conclude that all patients with Berger's disease should be tested systematically for antigliadin antibodies of the IgA class with a view to more accurate clinical classification and therapeutic planning.

  16. A Case of Strangulated Urethral Prolapse in a Premenopausal Adult Female

    PubMed Central

    Jessop, Morris L.; Al-Omar, Osama

    2016-01-01

    Urethral prolapse in a premenopausal adult female is exceedingly rare. This paper describes a case of strangulated urethral prolapse presenting as a urethral mass in an unusual demographic and reviews the literature on etiology and management. Only a few cases have occurred in women of reproductive age. The etiology is likely multifactorial. Treatment with surgical excision provides good results in the majority of cases. PMID:27413572

  17. Norwegian scabies in a malnourished young adult: a case report.

    PubMed

    Subramaniam, Girija; Kaliaperumal, Karthikeyan; Duraipandian, Jeyakumari; Rengasamy, Gopal

    2010-06-03

    A 19-year-old male was admitted to the medical ward with complaints of fever and swelling of the ankle and wrist joints of about two weeks duration. The patient developed hyperkeratotic lesions of the skin over the hands, elbow and back about three weeks after admission. Antistreptolysin O, rheumatoid factor, and Widal tests as well as Chickungunya, brucella, HIV and antinuclear antibodies were negative. Culture of blood sample and pus aspirate from the ankle and chest yielded a pure growth of Staphylococcus epidermidis. Potassium hydroxide (KOH) mount of the scrapings from crusted skin lesions showed plenty of adult mites, eggs and faecal pellets of Sarcoptes scabiei. A diagnosis of crusted scabies with secondary bacterial infection was made and the patient was treated successfully with oral ivermectin, topical permethrin and vancomycin.

  18. Adult supratentorial primitive neuroectodermal tumour presenting as intracranial haemorrhage: Case report.

    PubMed

    Black-Tiong, Sean P; Sandler, Simon J I; Otto, Sophia; Wells, Adam J

    2017-03-01

    Primitive neuroectodermal tumours (PNET) are highly malignant tumours with an aggressive clinical behaviour. Commonly seen in children, they are uncommon in the adult population, and rare in the supratentorial location. Adult supratentorial PNETs (ST-PNET) typically present with symptoms relating to raised intracranial pressure, seizures, or focal neurological deficits. Presentation with intracranial haemorrhage has been reported only twice before in the literature, one of which was fatal. We report the case of intracranial haemorrhage secondary to ST-PNET in a young adult and her immediate management.

  19. Exposure to Adult Substance Use as a Risk Factor in Adolescent Substance Use Onset: Part 1. Technical Report #97-13.

    ERIC Educational Resources Information Center

    Tracy, Allison J.; Collins, Linda M.; Graham, John W.

    The influence of parents and other important adults on adolescent substance use is becoming recognized as a salient topic of research. A study designed to assess the impact of adult substance use on adolescents' progression through increasingly more advanced stages of substance use is reported here. Latent Transition Analysis was used to estimate…

  20. A Case Report of Probable Paliperidone ER-Induced Serotonin Syndrome in a 17-Year-Old Taiwanese Female With New Onset Psychosis

    PubMed Central

    Yang, Chung-Hao; Juang, Kai-Dih; Chou, Po-Han; Chan, Chin-Hong

    2016-01-01

    Abstract A 17-year-old female with new-onset psychosis was treated with paliperidone. After increasing the paliperidone dose to 12 mg per day the patient developed a series of side effects; Tachycardia (140 bpm), severe drooling, restlessness, diaphoresis, whole-body tremor, inducible foot clonus, predominant lower limbs rigidity, bilateral pupil dilation, increased bowel sounds with watery diarrhea, and muscle hypertonicity. The symptoms subsided after stopping the paliperidone, and recurred after resuming paliperidone 9 mg per day. To our knowledge, this is the first case of a very clear and close relationship between the symptoms of serotonin syndrome and the use of paliperidone. We have to cautiously consider the diagnosis of serotonin syndrome in potential cases. PMID:26945397

  1. A lesbian older adult managing identity disclosure: a case study.

    PubMed

    Jenkins, David; Walker, Charles; Cohen, Harriet; Curry, Linda

    2010-01-01

    The aim of this study was to explore the experience of an older lesbian in managing the disclosure of her sexual identity. Specifically, the team wanted to better understand the ways she managed her identity in an assisted living facility. Using a qualitative case study methodology, 2 in-depth interviews were conducted. The following 5 themes were identified in the data: keeping her own counsel, maintaining "family" connection, celebrating second chances, living outside the L box, and staying morally centered. Practice and research implications are offered and the case study is used to expand understanding of disclosure management and resiliency theory.

  2. Cerebellar Pathology in Early Onset and Late Onset Essential Tremor.

    PubMed

    Kuo, Sheng-Han; Wang, Jie; Tate, William J; Pan, Ming-Kai; Kelly, Geoffrey C; Gutierrez, Jesus; Cortes, Etty P; Vonsattel, Jean-Paul G; Louis, Elan D; Faust, Phyllis L

    2017-04-01

    Early onset and late onset essential tremor (ET) cases differ in several respects. Whether they differ with respect to cerebellar pathologic changes remains to be determined. We quantified a broad range of postmortem features (Purkinje cell (PC) counts, PC axonal torpedoes and associated axonal changes, heterotopic PCs, and hairy basket ratings) in 30 ET cases with age of tremor onset <50 years, 30 ET cases with age of tremor onset ≥50 years, and 30 controls (total n = 90). We also used two alternative age of onset cut-points (<40 vs. ≥40 years, and <60 vs. ≥60 years) to define early onset vs. late onset ET. We found that ET cases with tremor onset <50 years and tremor onset ≥50 years had similar PC counts (8.78 ± 1.70 vs. 8.86 ± 1.24, p = 0.839), PC axonal torpedo counts (17.87 ± 18.27 [median =13.00] vs. 12.90 ± 10.60 [median =9.0], p = 0.486) and associated axonal pathology (all p values >0.05), heterotopic PC counts (9.90 ± 11.55 [median =6.00] vs. 5.40 ± 5.10 [median =3.50], p = 0.092), and hairy basket ratings (1.95 ± 0.62 [median =2.00] vs. 2.05 ± 0.92 [median =2.00], p = 0.314). When using the age of onset cut-points of 40 or 60 years, results were similar. Early onset and late onset ET cases share similar cerebellar postmortem features. These data do not support the notion that these age-of-onset related forms of ET represent distinct clinical-pathological entities.

  3. World Perspective Case Descriptions on Educational Programs for Adults: Ghana.

    ERIC Educational Resources Information Center

    Ansere, Joe K.; Mensah, Eric A.

    This document contains two case studies, one by J. K. Ansere, concerning the modular program of distance education to prepare teachers in Ghana and the other, by E.A. Mensah, reporting on a research experiment that compared teaching methods used to teach the course of study at a Ghanian worker's college. The modular program described by Ansere is…

  4. Candida Arthritis: Analysis of 112 Pediatric and Adult Cases

    PubMed Central

    Gamaletsou, Maria N.; Rammaert, Blandine; Bueno, Marimelle A.; Sipsas, Nikolaos V.; Moriyama, Brad; Kontoyiannis, Dimitrios P.; Roilides, Emmanuel; Zeller, Valerie; Taj-Aldeen, Saad J.; Miller, Andy O.; Petraitiene, Ruta; Lortholary, Olivier; Walsh, Thomas J.

    2016-01-01

    Background. Candida arthritis is a debilitating form of deeply invasive candidiasis. However, its epidemiology, clinical manifestations, management, and outcome are not well understood. Methods. Cases of Candida arthritis were reviewed from 1967 through 2014. Variables included Candida spp in joint and/or adjacent bone, underlying conditions, clinical manifestations, inflammatory biomarkers, diagnostic imaging, management, and outcome. Results. Among 112 evaluable cases, 62% were males and 36% were pediatric. Median age was 40 years (range, <1–84 years). Most patients (65%) were not pharmacologically immunosuppressed. Polyarticular infection (≥3 joints) occurred in 31% of cases. Clinical manifestations included pain (82%), edema (71%), limited function (39%), and erythema (22%) with knees (75%) and hips (15%) most commonly infected. Median erythrocyte sedimentation rate was 62 mm/hr (10–141) and C reactive protein 26 mg/dL (0.5–95). Synovial fluid median white blood cell count was 27 500/µL (range, 100–220 000/µL) with 90% polymorphonuclear neutrophils (range, 24–98). Adjacent osteomyelitis was present in 30% of cases. Candida albicans constituted 63%, Candida tropicalis 14%, and Candida parapsilosis 11%. Most cases (66%) arose de novo, whereas 34% emerged during antifungal therapy. Osteolysis occurred in 42%, joint-effusion in 31%, and soft tissue extension in 21%. Amphotericin and fluconazole were the most commonly used agents. Surgical interventions included debridement in 25%, irrigation 10%, and drainage 12%. Complete or partial response was achieved in 96% and relapse in 16%. Conclusion. Candida arthritis mainly emerges as a de novo infection in usually non-immunosuppressed patients with hips and knees being most commonly infected. Localizing symptoms are frequent, and the most common etiologic agents are C albicans, C tropicalis, and C parapsilosis. Management of Candida arthritis remains challenging with a clear risk of relapse

  5. An Isolated Case of Late-onset Amyloidogenic Transthyretin Type Familial Amyloid Polyneuropathy Associated with a Mutant Transthyretin Substituting Methionine for Valine at Position 30 Showing Latent Progressive Cardiac Involvement Confirmed by Serial Annual Electrocardiograms

    PubMed Central

    Sato, Chikako; Takaya, Tomofumi; Mori, Shumpei; Hasegawa, Kohei; Soga, Fumitaka; Tanaka, Hidekazu; Watanabe, Yoshiaki; Nishii, Tatsuya; Kono, Atsushi K.; Morinaga, Yukiko; Ishibashi-Ueda, Hatsue; Hirata, Ken-ichi

    2017-01-01

    Late-onset amyloidogenic transthyretin (ATTR) type familial amyloid polyneuropathy (FAP) shows features distinct from those of early-onset hereditary ATTR type FAP. We herein describe an asymptomatic 68-year-old man with late-onset ATTR type FAP whose serial annual electrocardiograms demonstrated progressive left bundle branch block. Latent but severe cardiac involvement seems to be one feature of late-onset ATTR type FAP, similar to senile systemic amyloidosis (SSA). Early differential diagnosis of late-onset ATTR type FAP from SSA is important because, currently, only the former has new therapeutic options available in Japan. The present case report, therefore, highlights the necessity of careful observation for periodic electrocardiograms. PMID:28090046

  6. EPIDEMIOLOGY AND TREATMENT OF MONTEGGIA LESION IN ADULTS: SERIES OF 44 CASES

    PubMed Central

    Suarez, Roberto; Barquet, Antonio; Fresco, Rodrigo

    2016-01-01

    ABSTRACT Objective: To analyze the epidemiology, treatment and outcome of a series of adult patients with Monteggia lesion treated in Uruguayan institutions. Methods: This is a retrospective article, we retrospectively identified from two Uruguayan institutions 44 adult patients with Monteggia lesion and analyzed their characteristics including Bado classification, associated injuries, treatment modality and outcome (Morrey score). Results: Using Bado classification, 23 cases (52%) were type II, 12 (27%) type I, seven (16%) type IV and two cases (5%) type III. Associated lesions were radial head fractures, found in 15 patients, coronoid ipsilateral fractures in seven patients, and neurological injuries in four. Radial head dislocation was reduced in 93% of the cases with closed maneuvers. Ulna fractures underwent open reduction and internal fixation in all 30 cases using 3.5 mm DCP plates. Complications after surgery occurred in 21 cases. Revision surgery was done in 15 cases. Outcomes after primary and revision surgery were good or excellent in 37 cases. Conclusions: In our series we observed that Monteggia lesion in adults is a serious injury with a high number of complications that often require revision surgeries. Level of Evidence IV, Retrospective Study, Case Series. PMID:26997915

  7. Factitious disorders in adults: two cases of unusual skin ulcers.

    PubMed

    Giuliodori, Katia; Campanati, Anna; Rosa, Laura; Marconi, Barbara; Cellini, Andreina; Brandozzi, Giuliano; Ganzetti, Giulia; Simoncini, Annalisa; Offidani, Annamaria

    2014-03-01

    The factitious disorders (FDs) include a large group of dermatological conditions characterized by skin lesions that patients themselves self-inflict but deny their active participation. FDs usually represent a diagnostic challenge, and their therapeutic management is usually based on a multidisciplinary approach because most FRD patients also suffer from undiagnosed behavior and personality disorders. We report two cases of FD: one patient that was suffering from severe depression and induced third-degree chemical burns on his own lower limbs, and another patient affected by obsessive-compulsive disorder and anorexia nervosa that presented with deep self-inflicted ulcers on her face. Our multispecialist approach, based on close cooperation between dermatologists and psychiatrists, led to a significant improvement of clinical conditions in both cases. Dermatologists need to be aware that FDs are complex disorders and a multidisciplinary approach is usually recommended to control their clinical course.

  8. A Rare Case of Mucinous Adenocarcinoma of the Colon Presenting as Ileoileal Intussusception in an Adult

    PubMed Central

    Chand, Prakash; Patel, Avani A.; Cervellione, Kelly L.; Sulh, Muhammed

    2012-01-01

    Intussusception is the cause of around 1% of all bowel obstructions in adults. Unlike in children, where intussusception is most often idiopathic in nature, cases in adults usually have an identifiable etiology, most commonly malignancy. Symptoms are usually non-specific, but timely identification and management is crucial due to high rates of carcinoma as the lead point of intussusception. Here we present a rare case of mucinous adenocarcinoma of the colon that presented as ileoileal intussusception. Diagnostic and treatment issues are also discussed. PMID:22454643

  9. Multiple granulomatous lung lesions in a patient with Epstein-Barr-virus-induced mononucleosis and new-onset systemic lupus erythematosus: a case report

    PubMed Central

    2012-01-01

    Introduction Granulomatous lesions are commonly encountered abnormalities in pulmonary pathology, and often pose a diagnostic challenge. We report an unusual case of granulomatous lung disease with uncommon characteristics, which developed following Epstein-Barr-virus-induced mononucleosis and new-onset systemic lupus erythematosus. We aim to highlight a diagnostic approach for the condition and to raise awareness of the possibility of it being related to the immunological reaction caused by Epstein-Barr virus infection. Case presentation A 36-year-old Japanese man, who had been diagnosed with Epstein-Barr-virus-induced infectious mononucleosis, new-onset systemic lupus erythematosus, and secondary Sjögren’s syndrome three weeks previously, presented to our facility with fever and diffuse pulmonary infiltrates. A computed tomography scan of the chest revealed multiple small nodules in both lungs. Fiberoptic bronchoscopy with bronchoalveolar lavage revealed lymphocytosis with predominance of T lymphocytes. A histological examination of a lung biopsy taken during video-assisted thoracic surgery showed randomly distributed tiny granulomatous lesions with infiltration of eosinophils. The differential diagnoses included hypersensitivity pneumonitis, sarcoidosis, and pulmonary involvement of Crohn’s disease, systemic lupus erythematosus, and Sjögren’s syndrome, but the clinical and pathological findings were not consistent with any of these. Our patient’s condition did not improve; therefore, prednisolone therapy was started because of the possibility of specific immunological reactions associated with Epstein-Barr virus infection. After steroid treatment, our patient showed radiological and clinical improvement. Conclusions To the best of our knowledge, this is the first case of a patient developing randomly distributed multiple granulomatous lung lesions with eosinophilic infiltrates after Epstein-Barr virus infection and systemic lupus erythematosus. On the

  10. A Case of Nutritional Osteomalacia in Young Adult Male

    PubMed Central

    Noh, Choong-Kyun; Lee, Min-Jeong; Kim, Bu Kyung

    2013-01-01

    Vitamin D is an important hormone that can be a role of bone and calcium metabolism in the human organ. Thus, vitamin D deficiency could contribute to the severity of metabolic bone disease. The osteomalacia, one of the metabolic bone diseases, is the softening of the bones caused by defective bone mineralization secondary to inadequate amounts of available phosphorus and calcium. We experienced a case of osteomalacia presented with walking disturbance, 30 year-old young aged man, caused by vitamin D deficiency due to strict vegetarian diet and lack of sunlight exposures. PMID:24524057

  11. Pasteurella multocida meningitis in an adult: case report

    PubMed Central

    Armstrong, G; Sen, R; Wilkinson, J

    2000-01-01

    Pasteurella multocida is known to form part of the normal flora in the nasopharynx or gastrointestinal tract in many domestic and wild animals. Most human P multocida infections are soft tissue infections caused by dog or cat bites. Less commonly this bacterium is associated with infections affecting other organ systems of man. A case of fatal P multocida meningitis discovered at the necropsy of a 52 year old man is described. P multocida is an unusual causative agent of meningitis which tends to affect those at the extremes of age. Key Words: Pasteurella multocida • meningitis PMID:10823146

  12. Eosinophilic pneumonia due to toxocariasis: an adult case report.

    PubMed

    Demirci, Mustafa; Unlü, Mehmet; Fidan, Fatma; Kaya, Selçuk

    2012-01-01

    Toxocara is a roundworm, a common parasite of dogs (T. canis) and cats (T. cati). Toxocariasis or Visceral larva migrans (VLM) are diseases caused by the larvae of Toxocara sp., which may involve many organs, but pulmonary symptoms such as coughing and wheezing and allergic symptoms are seen in more than 80% of patients. It is known that, although the risk of infection is present, the worldwide diagnosis of toxocariasis is difficult since clinical and laboratory data provide insufficient evidence for the diagnosis. Nowadays, the diagnosis of toxocariasis is performed by serologic methods. We describe herein a case of toxocariasis with eosinophilic pneumonia that was diagnosed using serologic methods.

  13. Anxiety and Depression during Transition from Hospital to Community in Older Adults: Concepts of a Study to Explain Late Age Onset Depression

    PubMed Central

    Lalor, Aislinn F.; Brown, Ted; Robins, Lauren; Lee, Den-Ching Angel; O’Connor, Daniel; Russell, Grant; Stolwyk, Rene; McDermott, Fiona; Johnson, Christina; Haines, Terry P.

    2015-01-01

    The transition between extended hospitalization and discharge home to community-living contexts for older adults is a critical time period. This transition can have an impact on the health outcomes of older adults such as increasing the risk for health outcomes like falls, functional decline and depression and anxiety. The aim of this work is to identify and understand why older adults experience symptoms of depression and anxiety post-discharge and what factors are associated with this. This is a mixed methods study of adults aged 65 years and over who experienced a period of hospitalization longer than two weeks and return to community-living post-discharge. Participants will complete a questionnaire at baseline and additional monthly follow-up questionnaires for six months. Anxiety and depression and their resulting behaviors are major public health concerns and are significant determinants of health and wellbeing among the ageing population. There is a critical need for research into the impact of an extended period of hospitalization on the health status of older adults post-discharge from hospital. This research will provide evidence that will inform interventions and services provided for older adults after they have been discharged home from hospital care. PMID:27417775

  14. Molecular basis of adult-onset and chronic G sub M2 gangliosidoses in patients of Ashkenazi Jewish origin: Substitution of serine for glycine at position 269 of the. alpha. -subunit of. beta. -hexosaminidase

    SciTech Connect

    Paw, B.H.; Kaback, M.M.; Neufeld, E.F. )

    1989-04-01

    Chronic and adult-onset G{sub M2} gangliosidoses are neurological disorders caused by marked deficiency of the A isoenzyme of {beta}-hexosaminidase; they occur in the Ashkenazi Jewish population, though less frequently than classic (infantile) Tay-Sachs disease. Earlier biosynthetic studies had identified a defective {alpha}-subunit that failed to associate with the {beta}-subunit. The authors have now found a guanosine to adenosine transition at the 3{prime} end of exon 7, which causes substitution of serine for glycine at position 269 of the {alpha}-subunit. An RNase protection assay was used to localize the mutation to a segment of mRNA from fibroblasts of a patient with the adult-onset disorder. That segment of mRNA (after reverse transcription) and a corresponding segment of genomic DNA were amplified by the polymerase chain reaction and sequenced by the dideoxy method. The sequence analysis, together with an assay based on the loss of a ScrFI restriction site, showed that the patient was a compound heterozygote who had inherited the 269 (Gly {yields} Ser) mutation from his father and an allelic null mutation from his mother. The 269 (Gly {yields} Ser) mutation, in compound heterozygosity with a presumed null allele, was also found in fetal fibroblasts with an association-defective phenotype and in cells from five patients with chronic G{sub M2} gangliosidosis.

  15. Siblings with the adult-onset slowly progressive type of pantothenate kinase-associated neurodegeneration and a novel mutation, Ile346Ser, in PANK2: clinical features and (99m)Tc-ECD brain perfusion SPECT findings.

    PubMed

    Doi, Hiroshi; Koyano, Shigeru; Miyatake, Satoko; Matsumoto, Naomichi; Kameda, Tomoaki; Tomita, Atsuko; Miyaji, Yosuke; Suzuki, Yume; Sawaishi, Yukio; Kuroiwa, Yoshiyuki

    2010-03-15

    Pantothenate kinase-associated neurodegeneration (PKAN), formerly known as Hallervorden-Spatz syndrome (HSS), is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in the brain. Mutations in the pantothenate kinase 2 (PANK2) gene are known to be responsible for PKAN. Several studies have revealed correlations between clinical phenotypes and particular PANK2 mutations. The adult-onset slowly progressive type of PKAN with PANK2 mutations is very rare. In this report, we describe siblings with the adult-onset slowly progressive type of PKAN with a novel mutation, Ile346Ser, in PANK2. The siblings had the same mutation in PANK2 and had common clinical signs such as misalignment of teeth, a high arched palate, hollow feet, a slight cognitive decline, and an apparent executive dysfunction, although they showed different patterns of movement disorders. Thus, even if PKAN patients have identical mutations, it is likely that they will present with different types of movement disorders. Brain perfusion single photon emission computed tomography in both patients showed decreased regional cerebral blood flow in the bilateral frontoparietal lobes, the globus pallidus, the striatum, and around the ventriculus quartus. Cardiac uptake of [(123)I] meta-iodobenzylguanidine was normal in both patients. Analysis of genotype-phenotype correlations and the elucidation of mutational effects on pantothenate kinase 2 function, expression, and structure are important for understanding the mechanisms of PKAN.

  16. Trastuzumab (Herceptin)-associated cardiomyopathy presented as new onset of complete left bundle-branch block mimicking acute coronary syndrome: a case report and literature review.

    PubMed

    Tu, Chung-Ming; Chu, Kai-Ming; Yang, Shin-Ping; Cheng, Shu-Mung; Wang, Wen-Been

    2009-09-01

    Trastuzumab (Herceptin) is well documented in reducing suffering and mortality from breast cancer. The clinically most important side effect of Herceptin is cardiotoxicity, which is reported in 2.6% to 4.5% of patients receiving trastuzumab alone and in as many as 27% of patients when trastuzumab is combined with an anthracycline in metastatic disease. We reported the case of a 50-year-old woman who presented to our emergency department (ED) because of chest pain and shortness of breath. On physical examination, holosystolic murmur over apex could be heard. Pulmonary and abdominal examinations were unremarkable. Twelve-lead electrocardiography showed sinus tachycardia and new onset of complete left bundle-branch block. Emergent transthoracic echocardiography revealed generalized hypokinesia of left ventricle and akinesia over interventricular septum and apex. She subsequently underwent immediate coronary angiography that revealed normal coronary angiography, and left ventriculogram revealed generalized hypokinesia with severe left ventricle dysfunction with ejection fraction of 33%. During right heart catheterization and endomyocardial biopsy, cardiac tamponade developed and was successfully relieved by pericardial window. She was discharged event-free 3 weeks later with conservative treatment. Although new onset of complete left bundle-branch block in a patient with chest pain may be acute coronary syndrome, careful review of medicine history is mandatory to avoid unnecessary procedure and complications.

  17. Onset of juvenile dermatomyositis following varicella infection in a 12-month-old child: a case report

    PubMed Central

    2014-01-01

    Introduction Infections can act as a trigger for juvenile dermatomyositis, with a predominance of respiratory tract infections reported previously. We present the first case of juvenile dermatomyositis following varicella infection to be described in the literature. Case presentation A 15-month-old Caucasian girl was diagnosed with juvenile dermatomyositis 3 months after a varicella infection. The diagnosis was challenging due to her young age, but was supported by magnetic resonance imaging, and confirmed following a later appearance of the characteristic skin rash. Conclusion Varicella infection may be a trigger for juvenile dermatomyositis. Further understanding of disease triggers is required. PMID:24529167

  18. Cystic Hygroma in an Adult; a Case Report

    PubMed Central

    Veeraraghavan, G; Denny, C; Lingappa, A

    2009-01-01

    Lymphangioma is a benign infiltrative malformation of the lymphatic channels. Cystic lymphangioma or cystic hygroma is a subtype of lymphangioma which exhibits large macroscopic cystic space histologically. The cause of cystic hygroma is believed to be developmental defect or primary Multilocular cystic malformation of dilated lymphatic channels. Cystic hygroma is a common and distinct entity that is not manifested in the oral cavity but occurs in the neck as a large, deep diffuse swelling. They are usually found in the posterior triangle of the neck. They often cross the midline, reaching axilla and mediastinum. Such localization verifies the complexity and extent of the lymphatic system in the cervical region when compared to other regions of the body. The five main locations where cystic hygroma can occur are, cervical (75–90%), axillary (20%), inguinal, retroperitoneal and thoracic. They usually appear as solitary lesions. They are usually infiltrative, often separating fascial planes and incorporating nerves, muscles, and blood vessels. They are fluctuant, freely mobile, compressible, painless and transilluminate well. The skin overlying the lesion is normal and usually there is no associated lymphadenopathy. Various treatment modalities have been tried. Surgery has been the main form of treatment, but total removal is not possible in all cases because of the extent of the lesion, which sometimes involves vital structures. We report a case of cystic hygroma in a young male patient. PMID:21483540

  19. Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet): case definition in surveillance for childhood-onset Duchenne/Becker muscular dystrophy.

    PubMed

    Mathews, Katherine D; Cunniff, Chris; Kantamneni, Jiji R; Ciafaloni, Emma; Miller, Timothy; Matthews, Dennis; Cwik, Valerie; Druschel, Charlotte; Miller, Lisa; Meaney, F John; Sladky, John; Romitti, Paul A

    2010-09-01

    The Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet) is a multisite collaboration to determine the prevalence of childhood-onset Duchenne/Becker muscular dystrophy and to characterize health care and health outcomes in this population. MD STARnet uses medical record abstraction to identify patients with Duchenne/Becker muscular dystrophy born January 1, 1982 or later who resided in 1 of the participating sites. Critical diagnostic elements of each abstracted record are reviewed independently by >4 clinicians and assigned to 1 of 6 case definition categories (definite, probable, possible, asymptomatic, female, not Duchenne/Becker muscular dystrophy) by consensus. As of November 2009, 815 potential cases were reviewed. Of the cases included in analysis, 674 (82%) were either ''definite'' or ''probable'' Duchenne/Becker muscular dystrophy. These data reflect a change in diagnostic testing, as case assignment based on genetic testing increased from 67% in the oldest cohort (born 1982-1987) to 94% in the cohort born 2004 to 2009.

  20. Acute Disseminated Encephalomyelitis in an Adult: An Uncommon Case of Paroxysmal Sympathetic Hyperactivity.

    PubMed

    Holder, Eric K; McCall, Joseph C; Feeko, Kristofer J

    2015-07-01

    Acute disseminated encephalomyelitis (ADEM) is an uncommon acute, rapidly progressive autoimmune demyelinating disease of the central nervous system that is most often due to infection or immunization. Generally, it is monophasic, but there is potential for recurrence and risk for development of multiple sclerosis. Although there has been literature documenting autonomic dysreflexia and hypertensive emergency