Results 61 to 70 of about 870,111 (256)

Hypokalemic periodic paralysis in a teenage boy after an intense period of exercise: A rare case report

Clinical Case Reports, 2023
Key Clinical Messages Diagnosis of rare even can be missed due to less familiarity with the disorder. In patients with muscle weakness, infectious causes are prioritized.
Sahar Noor, Abdul Jamil Rasooly, Sultan Mahmood Alikozai, Tooryalai Jalalzai, Ahmed Maseh Haidary, Najla Nasir, Sarah Noor, Masooma Farooqi, Husna Mansoori   +8 more
doaj   +1 more source

p190A/ARHGAP35 and p190B/ARHGAP5 proteins in endometrial cancer: a novel cancer‐relevant paralog interplay

Molecular Oncology, EarlyView.
This study identifies ARHGAP5, in addition to the frequently mutated ARHGAP35, as significantly mutated in endometrial cancer. Mutations in both genes co‐occur and are associated with their correlated downregulation. Functional CRISPR studies show that both paralogs regulate similar pathways, including actin cytoskeleton organization.
Mathilde Pinault, Capucine Heraud, Mélissa Correia de Oliveira, Véronique Neaud, Valérie Valesco, Valérie Prouzet‐Mauleon, Béatrice Turcq, Jean‐William Dupuy, Anne‐Aurélie Raymond, Sabrina Croce, Frédéric Saltel, Valérie Lagrée, Violaine Moreau   +12 more
wiley   +1 more source

Advancing reproductive rights in Pakistan: recommendations for enhancing access to abortion and post-abortion care

Journal of the Pakistan Medical Association
The current narrative review was planned to develop evidence and rights-based recommendations for improving access, quality, and integration of safe abortion and post-abortion care services in Pakistan, guided by national evidence, global guidelines ...
Azra Ahsan, Marium Waqas, Zeba Sathar, Ali Muhammad Mir, Humera Mansoor, Sara Malkani   +5 more
doaj   +1 more source

Primary hydatid cyst of the neck – EPSC 101593

Journal of Pediatric Surgery Case Reports, 2020
Hydatid cyst is a parasitic infection mostly caused by Echinococcus granulosis. The most frequent sites of the cyst are liver and lungs. Occurrence in the head and neck region is extremely rare.
Mohammad Tareq Rahimi, Reshadullah Jurat, Mohammad Akbar Shirzad, Haseeb Rahman   +3 more
doaj   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Impact of Intensive Insulin Stabilisation Service in Pregnancy with Type 1 Diabetes

Reproductive Medicine
Background/Objectives: Adverse pregnancy outcomes correlate with blood glucose levels in women with type 1 diabetes (T1DM). There is a gap between the glycaemic targets and the blood glucose control achieved in pregnancy.
Stephanie Teasdale, Natasha Cannon, Alison Griffin, Janelle Nisbet, H. David McIntyre   +4 more
doaj   +1 more source

Generalized Dystonia With Cervical Predominance in a Patient With a De Novo TCF20 Variant

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT TCF20 has been implicated in developmental delay and intellectual disability, with dystonia reported less frequently. We describe a woman in her early twenties with childhood‐onset learning difficulties, progressive dysarthria, tremor, and generalized dystonia with marked cervical predominance, associated with a de novo TCF20 frameshift ...
Melisa Kilic, Petr Dusek, Ibrahim Kamaci, Bahar Gulmez, Gul Yalcin Cakmakli, Ersin Tan, Sibel Ugur Iseri, Zuhal Yapici   +7 more
wiley   +1 more source

An exploration of resilience amongst working mothers [PDF]

, 2016
M.Phil.Abstract: In this postmodernist study, resilient working mothers are studied by means of an autoethnographical strategy. I accordingly examined a small group of South African working mothers’ experiences, including my own, by blending an evocative
Working mothers, Neethling, Lieneke Murray   +1 more
core  

Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Enrique Gonzalez Saez‐Diez, Amy Tam, Siofra Carty, Monica Ferrer Socorro, Kathryn Yang, Darius Ebrahimi‐Fakhari   +5 more
wiley   +1 more source

Intra-abdominal retroperitoneal fetus in fetu: A case report

Radiology Case Reports
Fetus in fetu (FIF) is a rare abnormality where a vertebrate parasitic fetus develops inside the body of another normally developing fetus. It is distinct from teratomas, tumors composed of cells from multiple germ layers and have malignant potential ...
Sahar Mahroof, MD, Hasina Noori, MD, Mamoonullah Asmati, MD, MS, MRCS, Adil Zaki, MD   +3 more
doaj   +1 more source