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Rare disorders

Sahoo Swapnajeet, Subodh Bn, Gupta Gourav
Apart from sleep wake disorders, nowadays, modafinil is being prescribed for several psychiatric disorders including depression. Despite being reported as to be having very low abuse potential, cases of modafinil dependence had come to the limelight. In this case report, we describe a 35 year old man with bipolar affective disorder while in remission who developed modafinil dependence and later on, had hypersexuality when he increased the dose of modafinil from 400 to 1,000 mg/day. Existing literature suggests that modafinil when taken above prescribed doses can cause many side effects ranging from nausea, vomiting to psychotic exacerbation and mania...
November 30, 2016: Clinical Psychopharmacology and Neuroscience: the Official Scientific Journal of the Korean College of Neuropsychopharmacology
Marta Spodenkiewicz, Carmen Diez-Fernandez, Véronique Rüfenacht, Corinne Gemperle-Britschgi, Johannes Häberle
Glutamine synthetase (GS) is a cytosolic enzyme that produces glutamine, the most abundant free amino acid in the human body. Glutamine is a major substrate for various metabolic pathways, and is thus an important factor for the functioning of many organs; therefore, deficiency of glutamine due to a defect in GS is incompatible with normal life. Mutations in the human GLUL gene (encoding for GS) can cause an ultra-rare recessive inborn error of metabolism-congenital glutamine synthetase deficiency. This disease was reported until now in only three unrelated patients, all of whom suffered from neonatal onset severe epileptic encephalopathy...
October 19, 2016: Biology
P Rodríguez Iglesias, V Ibáñez Pradas, A Alamar Velázquez, I Ibáñez Alcañiz, M Couselo Jerez
INTRODUCTION: The cricopharyngeal achalasia is an esophageal motor disorder that entails a lack of relaxation of the upper esophageal sphincter. It is rare in children and its etiology is related to multiple factors. The symptoms are nonspecific and may be masked by other diseases. CLINICAL CASE: Report two infants with dysphagia and choking episodes. Upper gastrointestinal series confirmed cricopharyngeal achalasia. The first patient was treated with endoscopic dilatation, and did not require further therapies...
January 15, 2016: Cirugía Pediátrica: Organo Oficial de la Sociedad Española de Cirugía Pediátrica
Susan Bromley, David Vizcaya
Childhood interstitial lung disease (chILD) comprises a wide heterogeneous group of rare parenchymal lung disorders associated with substantial morbidity and mortality. Pulmonary hypertension is a common comorbidity in adults with interstitial lung disease (ILD) and associated with poor survival. We aimed to systematically review the literature regarding the occurrence of pulmonary hypertension (PH) in chILD, its effect on prognosis and healthcare use, and its treatment in clinical practice. Searches of PubMed and EMBASE databases (up to February 2016), and American Thoracic Society conference abstracts (2009-2015) were conducted using relevant keywords...
October 23, 2016: Pediatric Pulmonology
Jun Suganuma, Tadashi Sugiki, Yutaka Inoue
We report a case of bilateral, permanent subluxation of the lateral meniscus. To our knowledge, the present case is the first reported description of bilateral irreducible anterior dislocation of the posterior segment of the lateral meniscus. This disorder is characterized by a flipped meniscus sign of the lateral meniscus on sagittal magnetic resonance images of the knee joint, with no history of trauma or locking symptoms. A detailed examination of serial magnetic resonance images of the lateral meniscus can help differentiate this condition from malformation of the lateral meniscus, that is, a double-layered meniscus...
2016: Case Reports in Orthopedics
Stephanie Seneff, Nancy L Swanson, Gerald Koenig, Chen Li
Osteonecrosis of the jaw (ONJ), a rare side effect of bisphosphonate therapy, is a debilitating disorder with a poorly understood etiology. FDA's Adverse Event Reporting System (FAERS) provides the opportunity to investigate this disease. Our goals were to analyze FAERS data to discover possible relationships between ONJ and specific conditions and drugs and then to consult the scientific literature to deduce biological explanations. Our methodology revealed a very strong association between gastroesophageal reflux and bisphosphonate-induced ONJ, suggesting acidosis as a key factor...
2016: Disease Markers
Yin-Xi Zhang, Yang Zheng, Bi-Jun Zhang, Yun Zhang, Mei-Ping Ding, Bao-Rong Zhang
Posterior reversible encephalopathy syndrome (PRES) is a clinical-radiological syndrome characterized by reversible vasogenic edema typically at a posterior location of the cerebrum. PRES with prominent brainstem or basal ganglia involvement is defined as central-variant, which is rare. We herein report an atypical case of a 35-year-old man with a 2-year history of untreated hypertension who complained of recurrent dizziness. The patient presented with brainstem and diffuse white matter involvement associated with intracranial hemorrhage and recovered fully after therapy...
October 20, 2016: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
Albina Nowak, Thomas P Mechtler, Robert J Desnick, David C Kasper
BACKGROUND: Fabry disease (FD) is a rare X-linked lysosomal storage disorder due to mutations in the α-galactosidase A gene (GLA) that result in absent or markedly reduce α-galactosidase A (α-GalA) enzymatic activity. As a result, the major glycosphingolipid substrates, globotriaosylceramide (Gb3) and globotriaosylsphingosine (LysoGb3) accumulate in plasma, urine and tissue lysosomes. In females, the diagnosis can be complicated by the fact that 40-50% of GLA-mutation confirmed heterozygotes have normal or only slightly decreased leukocyte α-GalA activities...
October 19, 2016: Molecular Genetics and Metabolism
Nazim Benzerdjeb, Fatima Ameur, Jean-Fortune Ikoli, Henri Sevestre
Primary cardiac B cell lymphoma is rare. To date, fewer than 90 cases have been described in the literature. We report a 67-year-old woman with a 30-year history of rheumatoid arthritis, who had received treatment with leflunomide for 10 years and infliximab for 2 years. Secondary Felty's syndrome appeared. She was admitted to the hospital for abdominal pain. Investigations disclosed a 5cm cardiac mass in the right atrium. Histopathologic examination of tissue specimens obtained at surgical myocardial biopsy demonstrated primary cardiac B cell lymphoma...
October 17, 2016: Pathology, Research and Practice
Frank Bridoux, Vincent Javaugue, Sébastien Bender, Fannie Leroy, Pierre Aucouturier, Céline Debiais-Delpech, Jean-Michel Goujon, Nathalie Quellard, Amélie Bonaud, Marie Clavel, Patrick Trouillas, Florent Di Meo, Jean-Marc Gombert, Jean-Paul Fermand, Arnaud Jaccard, Michel Cogné, Guy Touchard, Christophe Sirac
Randall-type heavy chain deposition disease (HCDD) is a rare disorder characterized by tissue deposition of a truncated monoclonal immunoglobulin heavy chain lacking the first constant domain. Pathophysiological mechanisms are unclear and management remains to be defined. Here we retrospectively studied 15 patients with biopsy-proven HCDD of whom 14 presented with stage 3 or higher chronic kidney disease, with nephrotic syndrome in 9. Renal lesions were characterized by nodular glomerulosclerosis, with linear peritubular and glomerular deposits of γ-heavy chain in 12 patients or α-heavy chain in 3 patients, without concurrent light chain staining...
October 20, 2016: Kidney International
Deborah Schofield
No abstract text is available yet for this article.
February 2016: Pathology
Hussein Algahtani, Muhammad Imran Naseer, Mohammad Al-Qahtani, Shireen Abubakr Abdulrahman, Faisal Boker, Bader Shirah
Congenital insensitivity to pain with anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV (HSAN type IV) is an extremely rare autosomal recessive disorder with an estimated incidence of 1 in 25,000. It was first described in 1963, and since then several case reports and review articles have been published. In this article, we report two brothers with clinical features of CIPA, who presented with recurrent episodes of hyperthermia, anhidrosis, profound loss of pain sensitivity, and unconscious self-mutilation of fingers, lip and tongue...
November 15, 2016: Journal of the Neurological Sciences
Aditi Vian Varma, Lori McBride, Michael Marble, Ann Tilton
Congenital insensitivity to pain and anhidrosis (CIPA) is one of the hereditary autonomic and sensory neuropathies. Typically presenting in infancy, it manifests as hyperpyrexia from defects in sweating (autonomic) and self-mutilating injuries from pain insensitivity (sensory). CIPA being rare in North America, diagnosis is often missed due to variable presentation. Subsequent management of its complications is therefore delayed. We report an unusual presentation in a 2-year-old girl with preexisting diagnosis of CIPA who was evaluated for bilateral upper extremity paresis of insidious onset...
November 15, 2016: Journal of the Neurological Sciences
J Lagarde, M Sarazin
Frontotemporal degeneration (FTD) in its behavioral variant (bvFTD) is probably one of the conditions that best illustrates the links between psychiatry and neurology. It is indeed admitted that between a third and half of patients with this condition, especially in early-onset forms, receive an initial diagnosis of psychiatric disorder (depression, schizophrenia, bipolar disorder) and are then referred to a psychiatric ward. BvFTD can thus be considered a neurological disorder with a psychiatric presentation...
October 20, 2016: L'Encéphale
D Mantas, C Damaskos, P Dailiani, M Samarkos, P Korkolopoulou
INTRODUCTION: Castleman's disease (CD), also known as giant or angiofolicular lymphoid hyperplasia or lymphoid hamartoma, is a group of atypical lymphoproliferative disorders that share common lymph node histological features and may be localized either to a single lymph node (unicentric) or occur systemically (multicentric). PATIENT AND METHOD: Herein, we present a rare case of a of 75-year-old female patient who was referred to our department and after a thorough work-up, underwent splenectomy with synchronous resection of an accessory spleen, splenic artery lymph nodes, and splenic hilar lymph nodes due to splenic involvement in a multicentric CD...
October 24, 2016: Acta Chirurgica Belgica
Rita Vale Rodrigues, Filipa Santos, João Pereira da Silva, Inês Francisco, Isabel Claro, Cristina Albuquerque, Maria Manuel Lemos, Manuel Limbert, António Dias Pereira
Multiple gastrointestinal stromal tumors (GISTs) caused by germline KIT gene mutations are an extremely rare autosomal dominant disorder. We report a case of a 21-year-old woman who presented to the emergency department with a 2-week history of asthenia, palpitations and upper gastrointestinal bleeding. After further clinical evaluation one gastric and two small bowel GISTs were diagnosed, which were surgically resected after neoadjuvant therapy with Imatinib. Diffuse hyperplasia of the interstitial cells of Cajal was also seen in the background gastric and small intestinal walls...
October 22, 2016: Familial Cancer
Sunita Bijarnia-Mahay, Deepti Gupta, Yosuke Shigematsu, Seiji Yamaguchi, Renu Saxena, I C Verma
BACKGROUND: Ethylmalonic encephalopathy is a rare inborn error of metabolism characterized by neurodevelopmental delay / regression, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhea. CASE CHARACTERISTICS: 4-year-old boy with developmental regression, chronic diarrhea, petechial spots and acrocyanosis. MRI brain showed T2W/FLAIR hyperintensities in bilateral caudate and putamen. Abnormal acyl-carnitine profile and metabolites on urinary GC-MS analysis suggested the diagnosis...
October 8, 2016: Indian Pediatrics
Ruchi Shah, Sudha Rao, Ruchi Parikh, Tahir Sophia, Hussain Khalid
BACKGROUND: Fanconi Bickel Syndrome is a rare, autosomal recessive, disorder of carbohydrate metabolism. Presence of hypercalciuria is rare. CASE CHARACTERISTICS: 4.5-years-old boy presented with growth failure, hepatomegaly, rickets, fasting hypoglycemia with postprandial hyperglycemia, fanconi syndrome and hypercalciuria. OUTCOME: A rare mutation in GLUT-2 gene suggestive of Fanconi Bickel Syndrome. MESSAGE: Fanconi Bickel Syndrome may present with hypercalciuria with proximal renal tubulopathy along with fasting hypoglycemia and postprandial hyperglycemia...
September 8, 2016: Indian Pediatrics
Laila Y AlAyadhi, Jamil A Hashmi, Muhammad Iqbal, Alia M Albalawi, Mohammad I Samman, Nadra E Elamin, Shahid Bashir, Sulman Basit
Single nucleotide polymorphisms (SNP) - based genotyping using microarray platform is now frequently used to detect copy number variants (CNVs) in the human genome. Here, we report CNVs identified using Illumina HumanOmni 2.5 M oligonucleotide microarrays in 11 multiplex families with autism spectrum disorder (ASD) referred to Autism Research and Treatment Center (ART) and Madinah Maternity and Children Hospital (MMCH). Of the 11 families, 22 patients with ASD (all males) and their parents, were recruited for the present study...
October 19, 2016: Neuroscience
Valentina Decimi, Grazia Fazio, Fabiola Dell'Acqua, Silvia Maitz, Marta Galbiati, Carmelo Rizzari, Andrea Biondi, Giovanni Cazzaniga, Angelo Selicorni
Williams syndrome (WBS) is a rare neurodevelopmental disorder with specific phenotypic characteristics and cardiac abnormalities, but is not considered as a cancer predisposing condition. However, in rare cases, malignancies have been described in patients with WBS, with hematologic cancer (mainly Burkitt Lymphoma and Acute Lymphoblastic Leukemia) as the most represented. We report here the case of a boy with WS and B-NHL. This is the unique case within the large cohort of patients (n = 117) followed in our institution for long time (mean clinical follow-up, 13 years)...
October 19, 2016: European Journal of Medical Genetics
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