Results 61 to 70 of about 238,379 (310)

A Recurrent Pathogenic Variant of INPP5K Underlies Autosomal Recessive Congenital Muscular Dystrophy With Cataracts and Intellectual Disability: Evidence for a Founder Effect in Southern Italy

Frontiers in Genetics, 2020
Inositol polyphosphate-5-phosphatase K [INPP5K (MIM: 607875)] acts as a PIP3 5-phosphatase and regulates actin cytoskeleton, insulin, and cell migration.
Adele D’Amico, Adele D’Amico, Fabiana Fattori, Fabiana Fattori, Francesco Nicita, Francesco Nicita, Sabina Barresi, Giorgio Tasca, Margherita Verardo, Simone Pizzi, Isabella Moroni, Francesca De Mitri, Annalia Frongia, Marika Pane, Eugenio Mercuri, Marco Tartaglia, Enrico Bertini, Enrico Bertini   +17 more
doaj   +1 more source

Management of Vata pradhana prameha with Darvyadi ghrita: A case report

Journal of Ayurveda Case Reports, 2022
Understanding Diabetes Mellitus (DM) in Ayurveda as Prameha, is always challenging as the diagnosis is made based on the clinical presentation of patients during the course of illness, not merely based on the blood glucose levels. All types of Prameha if
Asha Malviya, Vitthal G. Huddar, P. Shinsha   +2 more
doaj   +1 more source

Proximal muscle weakness as the sole manifestation of Cushing’s disease, misdiagnosed as dermatomyositis: a case report

Journal of Medical Case Reports, 2022
Abstract Background Cushing’s syndrome consists of signs and symptoms related to prolonged exposure to high levels of glucocorticoid, and should be considered in individuals with the discriminatory signs and symptoms. Proximal myopathy is an important discriminatory sign. Case presentation
Marjan Jeddi, Mesbah Shams
openaire   +3 more sources

Intravitreal GD2‐Specific Chimeric Antigen Receptor T‐Cell Therapy for Refractory Retinoblastoma

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Effective treatments for advanced, treatment‐resistant retinoblastoma (RB) remain limited. GD2‐specific chimeric antigen receptor (CAR) T cells show potent antitumor activity with minimal toxicity but have not previously been evaluated in RB.
Subongkoch Subhadhirasakul, Jatuporn Sujjitjoon, Pa‐thai Yenchitsomanus, Kridtin Jarutatsanangkoon, Ng Wei Loon, Kleebsabai Sanpakit, Jassada Buaboonnam, Chayamon Takpradit, Pornpimon Yuti, Nunghathai Sawasdee, Piriya Luangwattananun, Siripakorn Sangkitporn, Arnan Limmahachai, La‐ongsri Atchaneeyasakul   +13 more
wiley   +1 more source

Hoffmann Syndrome: A rare presentation of hypothyroid myopathy [PDF]

Folia Medica
Thyroid dysfunction is typically associated with systemic metabolic disturbances and may also present as thyroid myopathy. Understanding this relationship is crucial for recognizing its clinical manifestations and guiding appropriate management.
Saira Bano, Syed Onaiz Anwar, Shumaila Ambreen, Mahwish Bizanjo, Sadia Rehman, Shaikh Muhammad Owais Saeed   +5 more
doaj   +3 more sources

Oropharyngeal Dysphagia as the Main Expression of Amyotrophic Lateral Sclerosis

Medicina, 2022
Amyotrophic lateral sclerosis (ALS) is the most common form of motor neuron disease. Only about 10% of ALS patients survive more than 10 years. Clinical studies show that multidisciplinary care statistically significantly improves survival compared to ...
Margarita Rugaitienė, Gytė Damulevičienė, Vita Lesauskaitė, Ingrida Ulozienė   +3 more
doaj   +1 more source

Pulmonary Dysfunction Is Associated With Sleep Study Abnormalities in Children With Sickle Cell Disease: A Multicenter Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction Pulmonary dysfunction and sleep abnormalities are common in children with sickle cell disease (SCD) and are associated with worse clinical outcomes. Whether spirometry abnormalities are associated with polysomnography (PSG) findings remains unclear.
Ammar Saadoon Alishlash, Anis Rabbani Nourani, A. K. M. Fazlur Rahman, Dima Ezmigna, Tarig Ali‐Dinar   +4 more
wiley   +1 more source

Financial Burden Associated With Hospitalisation Among Families of Childhood Brain Tumours in Australia

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Families of children with cancer experience significant financial strain, even with universal healthcare. Indirect costs, such as productivity losses and non‐medical expenses, are rarely included in economic evaluations, and little is known about how effectively financial aid programmes alleviate this burden. Childhood brain tumours
Megumi Lim, Natalie Bradford, David Brain, Sameera Senanayake, Sanjeewa Kularatna, Kate Young, Christine Cashion, Tim Hassall, Susanna Cramb   +8 more
wiley   +1 more source

The Fate (Outcome) of Clinically Apparent Single Lesion and Oligofocal Nephroblastomatosis Treated According to SIOP/GPOH Protocols for Wilms Tumor

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background The management of clinically apparent single lesions or oligofocal nephroblastomatosis, a facultative precursor of nephroblastoma, remains debated. Methods We retrospectively analyzed 37 patients with clinically apparent single or oligofocal nephroblastomatosis (two to three lesions per kidney) among 2347 patients registered between
Nils Welter, Jens‐Peter Schenk, Jenny Wegert, Manfred Gessler, Leo Kager, Stefan Wagenpfeil, Marina Müller, Jean‐Michel Wolff, Joerg Fuchs, Steven W. Warmann, Clemens‐Magnus Meier, Jochen Hubertus, Christian Rübe, Christian Vokuhl, Patrick Melchior, Lena Tschirner, Norbert Graf, Rhoikos Furtwängler   +17 more
wiley   +1 more source

The effectiveness of organisation disciplinary actions at workplace [PDF]

, 2020
Discipline is a presence of laws and actions that are introduce to establish and monitor a matter accordingly. Idris & Alegbeleye (2015) noted that some academics view discipline as good behaviour and adhere to laws and regulations while others view ...
Chan, Shiau Wei, Ismail, Fadillah, Maulad Bahrol, Khadijah, Salleh, Siti Hasliah   +3 more
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