ABSTRACT
Restless legs syndrome (RLS) may severely affect the quality of life of patients. A deficient iron incorporation into the central nervous system has an important role in the pathophysiology of RLS. Severely affected patients may not respond to current therapeutic options. We report a preliminary experience with five patients with severe RLS and low serum ferritin levels who did not improve with oral iron. All were treated with 1 g of intravenous iron carboxymaltose. They experienced a marked improvement in symptoms, evident even during the first week of therapy that had persistent after up to two years of follow-up. A significant change in the RLS severity scale was observed after intravenous iron. Serum ferritin levels increased in all of them. Intravenous iron could be a therapeutic option for patients with severe RLS.
Subject(s)
Humans , Male , Female , Aged , Aged, 80 and over , Restless Legs Syndrome/drug therapy , Administration, Intravenous , Iron/therapeutic use , Ferritins/analysisABSTRACT
Emile Zola is one of the greatest writers in universal literature. In his important series of novels called "The Fortune of the Rougon-Macquart", Zola shows a surprising medical knowledge even though he did not have a formal medical education. We highlight not only his outstanding literary talent, but also the scientific relevance of the tremendous contribution to the medical field that can be extracted from his work. In this series, which describe the history of five generations within a large family suffering from neuropsychiatric and general pathologies, Zola emphasizes the hereditary component of several diseases. These observations probably place him as the first novelist who made an explicit emphasis on the power of inheritance in human behavior. He also mentions for the first time several medical aspects that were seldom addressed in the scientific literature of the time, demonstrating the genius of the writer, his outstanding power of observation and the rigorous preparation with which he wrote his work.
Subject(s)
History, 19th Century , History, 20th Century , Medicine in Literature/history , France , Genetics/history , Genetic Diseases, Inborn/historyABSTRACT
Johann Sebastian Bach suffered during the last year of his life of a progressive visual defect despite two operations done by a famous but quite controversial English ocular surgeon of that time. The exact diagnosis of his ocular problems is unclear but cataracts and complicated glaucoma seem the most plausible. A septic complication following the ocular surgery could have weakened Bach's health leading to his death only three months after the last intervention. In this paper diverse less known aspects of Bach's disease and life are reported.
Subject(s)
Humans , History, 17th Century , History, 18th Century , Vision Disorders/history , Famous Persons , Music/history , Ophthalmology/history , Physicians , Vision Disorders/surgery , England , GermanyABSTRACT
The main adverse effects of dopaminergic drugs used in Parkinson's disease are hypotension, somnolence, hallucinations and impulse control disorder. Less common is leg edema. We report on a 68-year-old male receiving levodopa and pramipexole consulting for severe leg edema lasting two years, whose etiology was not ascertained with multiple lab tests. This edema subsided substantially when pramipexole was discontinued and the dose of levodopa was increased to treat motor symptoms.
Subject(s)
Humans , Male , Aged , Parkinson Disease/drug therapy , Dopamine Agonists/adverse effects , Edema/chemically induced , Edema/pathology , Benzothiazoles/adverse effects , Leg/pathology , Levodopa/adverse effects , Pramipexole , Antiparkinson Agents/adverse effectsABSTRACT
Frontotemporal Dementia (FTD) and Motor Neuron Disease (MND) may share similar pathogenic mechanisms. An abnormal hexanucleotide expansion in C9orf72 gene is the most common genetic abnormality of these conditions and explains their concurrence in the same family. We report a 77-year-old female presenting with non-fluent aphasia leading to mutism and a mild Parkinsonism. A magnetic resonance imaging showed a severe atrophy of frontal and temporal lobes. Several family members of the patient suffered of atypical Parkinsonism, lateral amyotrophic sclerosis and dementia. We identified an abnormal hexanucleotide expansion in the C9orf72 gene in the proband. To the extent of our knowledge, this is the first time that this diagnosis is confirmed in our country. The knowledge of the genetic basis of neuro degenerative disorders improves diagnosis and opens expectatives for future treatments of these disabling conditions.
Subject(s)
Humans , Male , Female , Aged , DNA Repeat Expansion/genetics , Frontotemporal Dementia/genetics , C9orf72 Protein/genetics , Mutation/genetics , Pedigree , Atrophy , Magnetic Resonance Imaging , Genetic Predisposition to Disease , Frontotemporal Dementia/pathologyABSTRACT
Background: Restless legs syndrome (RLS) affects 10% of the general population. Aim: To analyze a series of patients with a minimum follow-up period of four years, treated during an interval of 14 years. Material and Methods: Retrospective analysis of medical records of 200 patients assessed and followed by the authors at a private outpatient clinic. Results: Fifty patients aged 25 to 90 years (34 females), who had a mean follow-up of 6,3 years (range 4-14 years), were selected. Sixty percent responded to therapy that initially consisted in dopamine agonists in 78% of cases. Thirty four percent remained symptomatic and 4% worsened. RLS severity scale improved from an initial score of 19,2 to 12,5 at the last follow-up visit (p < 0.05). Thirty-three patients (66%) experienced an overall worsening of symptoms beyond pretreatment levels during follow-up. The strategies to overcome this augmentation were the change to another agonist, use of ligands such as pregabalin and gabapentin, opioids and iron. Low ferritin was common in most of the patients in whom it was measured (24 of 45 results), mainly in those with augmentation (p < 0,05). Six percent of patients treated with dopamine agonist developed an impulse control disorder. Conclusions: RLS is a treatable condition during a long period of follow-up in most patients. We found a high rate of potentiation at presentation which can be explained by the inadequate use of high doses of dopaminergic agents.
Subject(s)
Humans , Male , Female , Adult , Middle Aged , Aged , Aged, 80 and over , Restless Legs Syndrome/drug therapy , Dopamine Agents/therapeutic use , Dopamine Agonists/therapeutic use , Severity of Illness Index , Retrospective Studies , Follow-Up Studies , Treatment OutcomeABSTRACT
Among autoimmune encephalitides, a prevalent group are those associated with antibodies against the N-Methyl-D-aspartate receptor, which present with behavior abnormalities, psychosis, seizures and abnormal movements. A new variant, mediated by antibodies against the GABA-A receptor, was recently described. We report a 66-years-old female with this form of encephalitis whose main manifestation was the presence of severe seizures leading to status epilepticus. The patient had a good response to immunomodulatory therapy with intravenous methylprednisolone, azathioprine and anticonvulsants. The laboratory tests initially detected anti-thyroid peroxidase antibodies which lead to the misdiagnosis of Hashimoto Encephalitis, which was ruled out after the detection of antibodies against GABA-A receptor. No malignancy was detected.
Subject(s)
Humans , Female , Aged , Receptors, GABA/immunology , Encephalitis/immunology , Hashimoto Disease/immunology , Seizures/immunology , Magnetic Resonance Imaging , Encephalitis/diagnostic imaging , Hashimoto Disease/diagnostic imaging , Antibodies/immunologySubject(s)
Aged , Female , Humans , Male , Middle Aged , Dopamine Agonists/administration & dosage , Restless Legs Syndrome/drug therapy , Tetrahydronaphthalenes/administration & dosage , Thiophenes/administration & dosage , Administration, Cutaneous , Disease Progression , Restless Legs Syndrome/chemically induced , Severity of Illness IndexSubject(s)
History, 19th Century , Famous Persons , Literature, Modern/history , Medicine in Literature , EnglandSubject(s)
History, 19th Century , History, 20th Century , History, Medieval , Humans , Art , Literature , PhysiciansABSTRACT
Human herpesvirus 7 (HHV-7) may cause encephalomyelitis in immune competent adults. We report two patients infected by the virus. A 34-year-old male presenting with paraparesis and a sensitive deficiency located in D6 dermatome. Cerebrospinal fluid had 35 white blood cells per mm³ and 75 mg protein per dl. A PCR-microarray examination was positive for HHV-7. The patient was treated with prednisolone and ganciclovir with full recovery. A 27-year-old male presenting with headache, fever and diarrhea. Cerebrospinal fluid analysis showed 160 cells per mm³ and 75 mg protein per dl. Viral RNA detection was positive for HHV-7. The patient was managed with analgesia and rest and was discharged with the diagnosis of viral meningitis. Our communication supports the notion that HHV-7 may be considered as pathogen factor in humans, even in immune competent ones.
Subject(s)
Adult , Humans , Male , Encephalitis, Herpes Simplex/virology , /isolation & purification , RNA, Viral/cerebrospinal fluid , Roseolovirus Infections , Diagnosis, Differential , Encephalitis, Herpes Simplex/cerebrospinal fluid , /genetics , Immunocompetence , Microarray Analysis/methods , Polymerase Chain Reaction , Roseolovirus Infections/cerebrospinal fluidSubject(s)
Adult , Female , Humans , Male , Middle Aged , Antipsychotic Agents/adverse effects , Parkinson Disease, Secondary/chemically induced , Parkinson Disease/etiology , Piperazines/adverse effects , Quinolones/adverse effects , Selective Serotonin Reuptake Inhibitors/adverse effects , Drug Therapy, Combination/adverse effectsABSTRACT
William Wilkie Collins (WWC) is a well-known prolific and innovator English writer of the Victorian age. After 150 years he is still being extensively read and all his main works are translated into Spanish. Furthermore, WWC has been acclaimed by famous writers such as JL Borges and TS Eliot as one of the best story-tellers of all times, and a master of the complexities of the plot of stories. WWC mentioned on his works many innovator aspects of medicine, demonstrating an uncanny power of observation and real interest in science. Notoriously, WWC described posttraumatic epilepsy, the clinical effects of opium, the introduction of people with sensorial deficits, such as blindness and deafness, as main figures in his novels. WWC also showed an interest in the management of mental disorders and the use of music as a potential therapy. In this review, we comment these interesting aspects of the creative work of this genius of the fiction literature.
Subject(s)
History, 19th Century , Humans , Famous Persons , Literature, Modern/history , Medicine in Literature , Mental Disorders/history , England , Mental Disorders/therapy , Music Therapy/historyABSTRACT
Jonathan Swift is one of the most celebrated satirist writers in literature. His well-known "Gulliver's Travels", apartfrom being a serious human being criticism, contains many interesting ana unrecognized comments about medical and other scientific facts. Swift made what seems to be thefirst account of a dementing illness in the elderly; his description fits well with what we now know as Alzheimer's disease. He also described a condition now called synaesthesia, a very interestingphenomenon that may contribute to creativity. In thispaper, we review aspects ofhis Ufe and reveal these amazing descriptions as samples of Swift's extraordinary power of observation.