Results 91 to 100 of about 48,192 (208)

Management of diabetes from preconception to the postnatal period: summary of NICE guidance [PDF]

, 2008
Diabetes in pregnancy is associated with risks to the woman (for example, higher rates of miscarriage, preeclampsia, and preterm labour) and to the developing fetus and baby (for example, higher rates of congenital malformations, macrosomia, birth ...
Guideline Development Group, NICE, Mugglestone, M.   +1 more
core   +3 more sources

Economic burden of type 2 diabetes management in France according to clinical characteristics

Diabetes, Obesity and Metabolism, EarlyView.
Abstract Aim We sought to investigate the treatment, medication patterns, and economic burden of type 2 diabetes (T2D) in France. Materials and Methods This was a descriptive retrospective cross‐sectional study of a representative sample of adults in the national healthcare system claims database in 2022.
Bruno Guerci, Christèle Blanc‐Bisson, Eric Vicaut, Gérard De Pouvourville, Bruno Detournay, Corinne Emery, Isabelle Bureau, Taos Ihaddadene‐Salzgeber, Fleur Levrat‐Guillen, Jean‐Pierre Riveline   +9 more
wiley   +1 more source

CONGENITAL MYOTONIC DYSTROPHY – CASE REPORT

Zdravniški Vestnik, 2001
Background. Myotonic dystrophy is inherited as an autosomal dominant trait. It is characterized by myotonia, myopathy of voluntary and involuntary muscles, frontal baldness in men, cardiac conduction abnormalities, catharacts, intellectual deterioration ...
David Neubauer, Breda Šušteršič, Darja Paro Panjan, Borut Peterlin, Janez Zidar   +4 more
doaj  

Core myopathy in two siblings with a biallelic variant in the CACNA1S gene—A case series study

Clinical Case Reports
Key Clinical Message Homozygous variants of Calcium Voltage‐Gated Channel Subunit Alpha1 S (CACNA1S) gene mutation were previously identified as causes of periodic paralysis and congenital early‐onset myopathy, while it could be manifested as a late ...
Tara Khoeini, Ariana Kariminejad, Yalda Nilipour, Armin Ariaei, Hossein Najmabadi, Mojtaba Arabshahi, Mehrshid Faraji Zonooz, Bahram Haghi Ashtiani   +7 more
doaj   +1 more source

Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients [PDF]

, 2014
Background: Sengers syndrome is an autosomal recessive condition characterized by congenital cataract, hypertrophic cardiomyopathy, skeletal myopathy and lactic acidosis. Mutations in the acylglycerol kinase (AGK) gene have been recently described as the
Ahting, Uwe, Atiq, Mehnaz, Bashir, Rani A, Chinnery, Patrick F, Dworschak, Andrea, Feichtinger, René G, Haack, Tobias B, Haghighi, Alireza, Haghighi-Kakhki, Hamidreza, Holzerova, Eliska, Klopstock, Thomas, Lebre, Anne-Sophie, Mayr, Johannes A, Mottaghi, Hassan, Prokisch, Holger, Pulido, Nathan, Rötig, Agnès, Saeed, Mahmood A, Saleh-Gohari, Nasrollah, Taylor, Robert W   +19 more
core   +2 more sources

ER proteostasis meets mitochondrial function: contact sites as hubs of communication and therapeutic targets

The FEBS Journal, EarlyView.
Proteostasis ensures proper protein folding, modification, and degradation, while its impairment triggers ER stress. Chronic ER stress and maladaptive UPR via the CHOP–ERO1 axis remodel ERMCs, altering calcium signaling and mitochondrial metabolism.
Giorgia Maria Renna, Alessandro Cherubini, Ersilia Varone, Serena Germani, Alice Marrazza, Ester Zito   +5 more
wiley   +1 more source

Genetics update: monogenetics, polygene disorders and the quest for modifying genes [PDF]

, 2018
The genetic channelopathies are a broad collection of diseases. Many ion channel genes demonstrate wide phenotypic pleiotropy, but nonetheless concerted efforts have been made to characterise genotype-phenotype relationships.
Symonds, Joseph D., Zuberi, Sameer M.
core   +1 more source

Collagen and microvascular alterations contribute to neuromuscular degeneration and disease progression in chronic intestinal pseudo‐obstruction

Journal of Internal Medicine, EarlyView.
Abstract Background Chronic intestinal pseudo‐obstruction (CIPO) is a severe gastrointestinal motility disorder that may be idiopathic or associated with systemic disease. In idiopathic cases, the pathophysiological mechanisms remain poorly defined. Although mutations in angiogenic factors have been reported in mitochondrial forms of CIPO, their role ...
Elisa Boschetti, Irene Neri, Leonardo Caporali, Elena Bonora, Carolina Malagelada, Claudio Fiorini, Danara Ormanbekova, Alessandro Berghella, Roberto D'Angelo, Rita Rinaldi, Cristiana Caliceti, Anna Costanzini, Mirella Falconi, Vincenzo Stanghellini, Stefano Ratti, Lucia Manzoli, Valerio Carelli, Roberto De Giorgio   +17 more
wiley   +1 more source

Severe Form of Salih Myopathy Caused by Combination of Two Heterozygous TTN Mutations

Balkan Journal of Medical Genetics
Salih myopathy is autosomal recessive hereditary early-onset myopathy with fatal cardiomyopathy. It is a rare and heterogeneous form of congenital titinopathies (TTN).
Milojković M, Jarić M, Stojanović V, Barišić N, Kavečan I   +4 more
doaj   +1 more source

Adverse reactions of amiodarone [PDF]

, 2019
Adverse drug reaction is defined by the World Health Organization as any response to a drug that is noxious and unintended and occurs at a dose normally used in man.
Calvosa, Leonardo, Ciacciarelli, Marco, Colunga Biancatelli, Ruben Ml, Congedo, Viviana, Iuliano, Luigi, Polidoro, Alessandro   +5 more
core   +1 more source