Diagnosis and treatment of urea cycle disorders in adult patients.

[Diagnosis and treatment of urea cycle disorders in adult patients]. Rev Med Interne. 2016 Mar 28; Authors: Maillot F, Blasco H, Lioger B, Bigot A, Douillard C Abstract Urea cycle disorders (UCDs) are inborn errors of metabolism in which the clinical picture is mostly due to ammonia intoxication. UCD onset may be observed at any age. Acute decompensations of UCDs include neuro-psychiatric symptoms such as headache, confusion, convulsions, ataxia, agitation or delirium, as well as digestive symptoms, namely nausea and vomiting along with abdominal pain. Acute decompensations may lead to an irreversible coma in the absence of specific therapy. The first step is to measure promptly ammonemia in such patients, and start appropriate therapy on an emergency basis. PMID: 27032484 [PubMed - as supplied by publisher]
Source: Revue de Medecine Interne - Category: Internal Medicine Tags: Rev Med Interne Source Type: research

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Conclusion The m.10191T>C mutation in the mtDNA of the complex I (CI) subunit of MTND3 results in the substitution of a highly conserved amino acid (p.Ser45Pro) within the ND3 protein, leading to CI dysfunction through impaired enzyme catalysis rather than impaired stability or assembly, causing a broad clinical spectrum of disorders (26). Patients with the m.10191T>C mutation are rare. In the present study, we report on a family of patients with the extremely rare adult-onset Leigh-like syndrome with the m.10191T>C mutation. Including the two patients from our reported family, the m.10191T>C mutation has bee...
Source: Frontiers in Neurology - Category: Neurology Source Type: research
This report supports that the novel mutation of RNF139 p.Q650R probably serve as a key role in HBs progression. Introduction Central nervous system hemangioblastomas (HBs) are benign tumors which usually occur in cerebellum (1), and the pathogenesis of HBs is still unknown. According to the revised World Health Organization (WHO) classification of tumors of the nervous system published in 2000, HBs were classified to the tumors of uncertain histogenesis. The morphology code of the International Classification of Diseases for Oncology (ICD-O)is 9161/1, grade I. HBs are composed of mesenchymal cells and abundant capi...
Source: Frontiers in Neurology - Category: Neurology Source Type: research
ConclusionHCP mainly leads to a headache and the paralysis of multiple cranial nerves. A biopsy and MRI are often required and serve as the basis for the diagnosis and effective therapy.
Source: Neurological Sciences - Category: Neurology Source Type: research
A 16-year-old Korean boy presented with acute onset vertigo, dysphagia and gait ataxia of 16  hours duration. He had history of headache and neck pain along with transient vertigo during a water slide ride 12 days before presentation. CT brain showed left...
Source: SafetyLit - Category: International Medicine & Public Health Tags: Economics of Injury and Safety, PTSD, Injury Outcomes Source Type: news
‚ÄčA 32-year-old woman and her 36-year-old husband with no past medical history presented to the ED with palpitations, headache, a feeling of warmth all over, and a rash extending from their upper chests to their faces.The blood pressures of the wife and husband were 91/56 mm Hg and 93/61 mm Hg, respectively. Both were mildly tachycardic with heart rates of 112 bpm and 108 bpm. The patients described intense pruritus, and they had patchy blanching and erythema over their chests and faces with mild eyelid edema. They reported that their symptoms started five to 10 minutes after sharing an ahi tuna poke bowl.What Is the...
Source: The Tox Cave - Category: Emergency Medicine Tags: Blog Posts Source Type: blogs
With all our talk of opiate withdrawal syndromes accompanied by nausea, headache, fatigue, and depression, it can be daunting, even terrifying, to people who face the prospect of tossing all wheat and grains into the trash bin, vowing to never let a Danish, donut, or dish of pasta cross your lips again. So it may help to lay out a timeline of what and when various changes can develop in the Wheat Belly wheat- and grain-free lifestyle. You can expect different symptoms and health conditions to recede at different rates, since they are caused by a variety of different mechanisms. For instance, the direct gastrointestinal tox...
Source: Wheat Belly Blog - Category: Cardiology Authors: Tags: Wheat Belly Lifestyle acid reflux detoxification grains IBS Inflammation joint pain opiates withdrawal Source Type: blogs
We report on a girl affected by epileptic seizures treated with levetiracetam for five years. Due to worsening of the seizures, the dosage of this drug was increased and afterwards lowdosage topiramate was initiated. After 12 days from the introduction of topiramate, the girl began to present neurologic signs including limbs rigidity, pain, incoordination and flexed fingers. Gradual withdrawn of the topiramate resulted in progressive resolution of the symptomatology. This clinical episode could represent a probable topiramate-related side effect (Naranjo score 5), never reported before in this form. PMID: 29437013 [Pu...
Source: Epilepsy Curr - Category: Neurology Authors: Tags: Curr Drug Saf Source Type: research
ConclusionThis work highlights the importance to complement analysis as direct sequencing with quantitative analysis (MLPA). In fact, intragenicCACNA1A rearrangements have been detected. Our work demonstrated that deletions inCACNA1A gene may be associated also to different migraine phenotypes.
Source: The Journal of Headache and Pain - Category: Neurology Source Type: research
This article reports a case of exploding head syndrome (EHS) as an aura of migraine with brainstem aura (MBA). A middle-aged man presented with intermittent episodes of a brief sensation of explosion in the head, visual flashing, vertigo, hearing loss, tinnitus, confusion, ataxia, dysarthria, and bilateral visual impairment followed by migraine headache. The condition was diagnosed as MBA. Explosive head sensation, sensory phenomena, and headaches improved over time with nortriptyline. This case shows that EHS can present as a primary aura symptom in patients with MBA. PMID: 29694468 [PubMed - in process]
Source: Journal of Orofacial Pain - Category: ENT & OMF Tags: J Oral Facial Pain Headache Source Type: research
In conclusion, the novelty of this matter has generated an expansion of literature data with the unavoidable consequence that some reports are often based on low levels of evidence. Therefore, only studies performed on large samples with the inclusion of control groups will be able to clearly establish whether the large information from the literature regarding extra-intestinal NCGS manifestations could be supported by evidence-based agreements. PMID: 29662290 [PubMed - in process]
Source: World Journal of Gastroenterology : WJG - Category: Gastroenterology Authors: Tags: World J Gastroenterol Source Type: research
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