Molecular analysis using targeted next generation DNA sequencing and clinical spectrum of Mexican patients with isovaleric acidemia

In this study, clinical summaries, biochemical measurements and targeted next generation sequencing (tNGS) data from the IVD gene were compared in 13 Mexican patients. The main symptoms were vomiting, feeding refusal, abdominal pain, impaired alertness, lethargy, stupor, coma; hypotonia, ataxia, hallucinations, seizures; anemia, neutropenia and pancytopenia. Mean blood concentration of isovalerylcarnintine was above the reference value (0.5 µM) in symptomatic patients, as well as in the screen positive newborns with 8.78 µM and 2.23 µM respectively. The molecular spectrum of this cohort was heterogeneous, with 14 different variants identified, seven were previously-described, and seven were novel. The most frequent variant was c.158G>C (p.R53P). In this study, we found a long diagnostic delay (average of 44 months) thus, it is essential to increase physicians’ awareness of this treatable condition. Biochemical IVA NBS accompanied by molecular studies such as tNGS will permit identification of potentially asymptomatic forms of the disease, allowing better genotype-phenotype relationship, management decisions and follow-up.
Source: Clinica Chimica Acta - Category: Laboratory Medicine Source Type: research

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ABSTRACT OBJECTIVE To evaluate the factors associated with tooth loss in adults from the position and number of teeth lost in the dental arches. METHODS This is a cross-sectional, population-based study with adults participating in the epidemiological survey of oral health of S ão Paulo in 2015. The outcome of the study was tooth loss, assessed by the proposed classification, namely: I) lost up to 12 back teeth; II) lost up to 12 teeth (including front teeth); and III) lost more than 12 teeth. A four-block analysis was conducted, supported by a conceptual theoretical mode l adapted for tooth loss. For the multinomia...
Source: Revista de Saude Publica - Category: International Medicine & Public Health Source Type: research
ConclusionA long history of shoulder pain that is not responsive to conservative management in young patients should raise the suspicion of an "OO", and physicians should be encouraged to use early advanced imaging modalities in order to confirm it.
Source: International Journal of Surgery Case Reports - Category: Surgery Source Type: research
ConclusionGiven the increasing number of such surgeries performed the recognition of acute and chronic complications, and their optimal management is of great importance. Although performing a Roux-en-Y fistulojejunostomy was recommended in the literature, conservative and endoscopic treatment should be considered before.
Source: International Journal of Surgery Case Reports - Category: Surgery Source Type: research
We present this case for the uniqueness of the bilateral ovarian pathology as well as to show that robotic-assisted resection of ovarian tumors in certain children is safe and feasible.
Source: Journal of Pediatric Surgery Case Reports - Category: Surgery Source Type: research
Publication date: Available online 9 December 2019Source: Annals of Physical and Rehabilitation MedicineAuthor(s): I Laffont, J Froger, C Jourdan, K Bakhti, LEH Van Dokkum, A Gouaich, HY Bonnin, P Armingaud, A Jaussent, MC Picot, E Le Bars, A Dupeyron, C Arquizan, A Gelis, D MottetAbstractBackground. Few rehabilitation methods have proven their efficacy in increasing sensori-motor recovery and/or function of the upper limb (UL) after stroke. Video games (VGs) are promising tools in this indication.Objective. To compare UL rehabilitation by using VGs and conventional rehabilitation (CR) in patients with sub-acute stroke.Des...
Source: Annals of Physical and Rehabilitation Medicine - Category: Rehabilitation Source Type: research
Publication date: Available online 9 December 2019Source: Social Science &MedicineAuthor(s): Maddalena Canna, Rebecca SeligmanAbstractFunctional Neurological Disorder (FND), otherwise known as Conversion Disorder, is characterized by abnormal sensory or motor symptoms that are determined to be “incompatible” with neurological disease. FND patients are a challenge for contemporary medicine. They experience high levels of distress, disability, and social isolation, yet a large proportion of those treated do not get better. Patients with FNDs are often misdiagnosed and suffer from stigma, dysfunctional medical...
Source: Social Science and Medicine - Category: Psychiatry & Psychology Source Type: research
Insomnia and co-existing sleeplessness and musculoskeletal pain were inversely related to long-term recovery from chronic low back pain, a study found; relieving sleep problems may improve recovery.Medscape Medical News
Source: Medscape FamilyMedicine Headlines - Category: Primary Care Tags: Internal Medicine News Source Type: news
About 50 of the city's top Hispanic leaders from various industries met Friday to hear a vision laid out by San Antonio Hispanic Chamber of Commerce President and CEO Diane S ánchez on developing a regional and binational economic strategy.
Source: bizjournals.com Health Care:Pharmaceuticals headlines - Category: Pharmaceuticals Authors: Source Type: news
The bill aims to “provide Medicare support for an additional 1,000 graduate medical education (GME) positions over five years in hospitals that have, or are in the process of establishing, accredited residency programs in addiction medicine, addiction psychiatry, or pain medicine.”
Source: Forbes.com Healthcare News - Category: Pharmaceuticals Authors: Source Type: news
ConclusionAs rare as this pathology is, this article aims to improve the available data and provide useful information regarding diagnosis and therapy.ResumoIntroduçãoO linfoma do TGI pode ser dividido entre primário e secundário, com importância diagnóstica e terapêutica. O linfoma primário de reto é patologia rara, pouco relatada em literatura médica. Sua incidência tem aumentado e possivelmente esse fenômeno esteja associado ao aumento no numero de pacientes com imunossupressão (seja por SIDA ou drogas imunossupressoras).MetodologiaFo...
Source: Journal of Coloproctology - Category: Gastroenterology Source Type: research
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