Результаты поиска

Congenital ocular motor apraxia with wheel-rolling ocular torsion-a neurodiagnostic phenotype of Joubert syndrome.

Joubert syndrome is a multisystem disorder that is associated with a constellation of cyclic ocular motor disturbances. We describe 2 children with congenital ocular motor apraxia who displayed wheel-rolling torsional eye movements and tonic alternating cyclodeviations of the eyes on retinal examination as a neurodiagnostic phenotype of Joubert syndrome.

An elusive ciliopathy: Joubert syndrome.

The police brought a 65-year-old female patient to the EADU after being found 'roaming the streets' in an apparent state of confusion. This was her third admission under the same circumstances during the last 3 years. Neurological examination revealed (1) cognitive impairment, (2) oculomotor apraxia, (3) abnormal cancellation of vestibular ocular reflex, (4) mild ataxia and (5) mild hypotonia. Renal function was abnormal and liver function was normal. No retinal disturbance was found. The head CT on admission was normal for stroke and the lumbar puncture was negative for encephalitis. Her brai

Senataxin plays an essential role with DNA damage response proteins in meiotic recombination and gene silencing.

Senataxin, mutated in the human genetic disorder ataxia with oculomotor apraxia type 2 (AOA2), plays an important role in maintaining genome integrity by coordination of transcription, DNA replication, and the DNA damage response. We demonstrate that senataxin is essential for spermatogenesis and that it functions at two stages in meiosis during crossing-over in homologous recombination and in meiotic sex chromosome inactivation (MSCI). Disruption of the Setx gene caused persistence of DNA double-strand breaks, a defect in disassembly of Rad51 filaments, accumulation of DNA:RNA hybrids (R-loop

XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia.

XRCC1 is a molecular scaffold protein that assembles multi-protein complexes involved in DNA single-strand break repair. Here we show that biallelic mutations in the human XRCC1 gene are associated with ocular motor apraxia, axonal neuropathy, and progressive cerebellar ataxia. Cells from a patient with mutations in XRCC1 exhibited not only reduced rates of single-strand break repair but also elevated levels of protein ADP-ribosylation. This latter phenotype is recapitulated in a related syndrome caused by mutations in the XRCC1 partner protein PNKP and implicates hyperactivation of poly(ADP-r

Epidemiology, Clinical Data, and Management of Aseptic Abscess Syndrome: Review of Published Cases Outside France.

Aseptic abscess syndrome is a clinical entity that is being increasingly documented. Unfortunately, apart from the French registry, there are no other studies presenting collective data. In this review, we sought to analyze clinical and laboratory data from case reports published from the rest of the world. A total of 107 articles were found through our literature search in PubMed, Scopus, and Google, which contained 108 patients who met our eligibility criteria, including pediatric cases. The mean age at diagnosis was 39.1 years, and 54.6% of the patients were female. Cases were found affecti

Совпадение в полном тексте источника
… . * Patients aged <16 years; ◊ only patients without IBD, neutrophilic dermatosis, BD, FMF, lupus, sarcoidosis, polyarteritis nodosa, and Cogan syndrome are reported for this manifestation. … Aseptic Liver Abscesses as an Exceptional Finding in Cogan’s Syndrome. Hepatology. 2021;73:2067–2070. doi: 10.1002/hep.31547. 76. Moafa G., Unis G. S2420 Aseptic Systemic Abscess Syndrome: A Rare Syndromic Presentation of Crohn’s Disease. Am. J. …

The Impact of Monoclonal Antibody Usage on Hearing Outcomes: A Systematic Review.

ObjectiveTo ascertain trends in ototoxicity observed with monoclonal antibodies (mABs) and understand the impact they may have on hearing function.Data sourcesPubMed, Embase, Scopus.Review methodsA systematic review was performed following PRISMA guidelines. Data were reviewed for demographics, utilized mABs with respective indication and dosing, audiometric outcomes, and treatment for otologic effects.ResultsOf 757 studies reviewed, a total of 44 were included, encompassing 18,046 patients treated with mABs. Mean age of the sample was 57.8 years old. The search yielded 18 agents of ototoxicit

MR and CT angiography in the diagnosis of vasculitides.

Vasculitides represent the wide-ranging series of complex inflammatory diseases that involve inflammation of blood vessel walls. These conditions are characterized according to the caliber of the predominantly involved vessels. The work-up of vasculitides often includes imaging to narrow a differential diagnosis and guide management. Findings from CT and MR angiography in conjunction with a thorough history and physical exam are of utmost importance in making an accurate diagnosis. Further, imaging can be used for follow-up, in order to monitor disease progression and response to treatment. Th

Acute ischaemia of the lower limb due to non-bacterial thrombotic endocarditis with recent venous thrombo-embolic disease as the initial manifestation of lung adenocarcinoma: a case report.

BackgroundNon-bacterial thrombotic endocarditis is a rare condition. Optimal management is based on early diagnosis which remains difficult.Case summaryA 75-year-old male patient was admitted to the hospital with acute ischaemia of the left lower limb due to popliteal artery occlusion despite anticoagulation with rivaroxaban for pulmonary embolism diagnosed 2 weeks earlier. Transoesophageal echocardiography (TOE) showed a mobile vegetation with mild mitral valve regurgitation. Positron emission tomography (PET) scan did not show hyperfixation at the mitral valve but rather lymphadenopathy hype

Rare Diseases of the Orbit.

This article provides an overview of rare orbital diseases. Congenital malformations, inflammatory diseases, benign and malignant neoplasias are described. Although it represents a relatively small area of the body the orbit contains multiple different tissues. Therefore, a great variety of diseases can be found within the orbital space. That is the reason, why both the completeness and the level of detail in the description of particular diseases must be somewhat limited. Nevertheless, clinical manifestations, important aspects of diagnosis, treatment strategies, and, when specific data are a

Skin manifestations associated with systemic diseases - Part I.

The skin demonstrates what is happening in the body in many diseases, as it reflects some internal processes on the surface. In this sense, skin as an organ, goes beyond its protective and barrier functions, as it provides clues for the identification of some systemic diseases. The dermatologist then raises diagnostic hypotheses for conditions related to all systems and refers them to the appropriate specialty. With easy access to examination by trained eyes and biopsies, the skin can present specific or non specific alterations on histopathology. In the first case this combination establishes

Совпадение в полном тексте источника
… Vasculitis of variable size vessels: Behçet’s disease and Cogan’s syndrome. Single-organ vasculitis: leukocytoclastic vasculitis limited to the skin, cutaneous arteritis, isolated aortitis, primary central nervous system vasculitis. … Cogan Syndrome is an ocular and auditory immune disease that may be associated with systemic vasculitis. Secondary vasculitis They are associated with systemic diseases (SLE, rheumatoid arthritis, sarcoidosis). …

MPO-ANCA-Associated Hypertrophic Pachymeningitis Mimicking IgG4-Related Disease: A Case Report and Literature Review.

Hypertrophic pachymeningitis (HP) is a rare and chronic clinical disease characterized by thickening of the dura mater, leading to persistent headache, cranial neuropathy, seizures, and other neurological symptoms. Immune-mediated causes, particularly antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis and IgG4-related disease (IgG4-RD), are among the most common etiologies. We report a case of a 54-year-old female with recurrent headache, blepharoptosis, hearing loss, and markedly elevated inflammatory markers. Blood tests, and serum levels of IgG4 were within normal ranges. Cont

The influence of targeted therapies in the inner ear.

Scientific research has significantly propelled advancements in healthcare. One notable application is precision medicine, which seeks to analyze and comprehend disease pathology to offer personalized medical treatments to patients. Targeted oncology, a branch of precision medicine, focuses on identifying and targeting specific molecules that regulate cancer cells, thereby minimizing harm to healthy cells. Different types of targeted therapy against cancer include monoclonal antibodies and small molecules. This manuscript intends to provide an overview of the influence of these targeted oncolo

Сотрясение связано с множественным склерозом, если оно происходит до инфекционного мононуклеоза.

Если вирус Эпштейн-Барр имеет существенно важное значение для множественного склероза (MS) патогенеза, то могут существовать различия в риске MS для вспомогательного воздействия, которое происходит до или после заражения вирусом Эпштейн-Барр. Инфекционный мононуклеоз (IM) в подростковом возрасте обычно представляет собой первичную вирусную инфекцию Эпштейн-Барр, поэтому его можно использовать в качестве косвенного маркера, в то время как сотрясение мозга в подростковом возрасте рассматривается в качестве отдельного неосновного фактора риска для MS. Цель здесь заключалась в изучении того, связа

Mepolizumab in the treatment of eosinophilic chronic obstructive pulmonary disease.

Despite maximal medical therapy, a subset of patients with chronic obstructive pulmonary disease continue to suffer acute exacerbations. It is also clear that a subset of this population has elevated blood eosinophils. In addition to clearly responding better to inhaled corticosteroids, it is also possible that this subgroup may benefit from biologic treatments targeting eosinophilic inflammation. Mepolizumab, a humanized monoclonal antibody against interleukin-5 (IL-5), may have a therapeutic effect in a subgroup of patients with COPD and eosinophilic airway inflammation. In this review, we d

Secondary Primary Cancer after Primary Gastric Cancer: Literature Review and Big Data Analysis Using the Health Insurance Review and Assessment Service (HIRA) Database of Republic of Korea.

Advances in cancer screening and early detection, as well as improvements in surgical techniques and therapeutics, have contributed to decreasing gastric cancer mortality. The number of gastric cancer survivors continues to rise; however, long-term follow-up has revealed an increase in the risk of post-gastrectomy symptoms or other health problems, such as extra-gastric secondary primary cancer (SPC), in these survivors. Therefore, evidence-based screening for new primary cancer is needed in these populations; however, the incidence of SPC varies by country or continent and its characteristics

Managing fatigue in patients with primary Sjögren's syndrome: challenges and solutions.

Primary Sjögren's syndrome (pSS) patients identify fatigue as their most important symptom and the one most difficult to cope with, but there are still many challenges and few solutions to manage this debilitating symptom. Promising pharmacological treatments, such as rituximab, have failed in more stringent tests including randomized controlled trials (RCTs) and meta-analysis. While non-pharmacological interventions may be safer, less costly, and address other common comorbidities, to date only aerobic exercise seems to be effective at reducing fatigue in pSS. All interventions, pharmacologic

Aspects of vincristine-induced neuropathy in hematologic malignancies: a systematic review.

PurposeVincristine is widely used as anticancer therapy for a variety of hematological malignancies. The treatment is limited by progressive vincristine-induced neuropathy, possibly including both peripheral sensory and motor nerves, autonomic nervous functions, and the central nervous system. This dose-limiting side-effect can diminish quality of life and, furthermore, cause discontinuation of vincristine treatment. The present review elucidates the current knowledge regarding vincristine-induced neuropathy in hematologic malignancies, focusing on neuropathy assessment, clinical and molecular

Ocular Manifestations Associated with Hematologic Malignancies: Mechanisms, Diagnosis, and Management.

Background: Hematologic malignancies (HMs), including leukemia and lymphoma, are systemic diseases that may cause a wide range of ocular manifestations. Methods: We searched PubMed/MEDLINE (2015-2026) and identified articles with an emphasis on clinically relevant studies and recent developments. Results: Clinically, ocular involvement presents with diverse manifestations, including retinal hemorrhage, vitreoretinal lymphoma, choroidal infiltration, orbital masses, treatment-related ocular toxicities, graft-versus-host disease, and secondary infectious complications. These findings may mimic o

Ход работы сессии 29th Европейский конгресс педиатрии.

Аннотация не предоставлена источником. Откройте карточку для перехода к публикации.

The Impact of Ketogenic Nutrition on Obesity and Metabolic Health: Mechanisms and Clinical Implications.

The ketogenic diet (KD) has recently gained increasing popularity. This high-fat, adequate-protein, and carbohydrate-poor eating pattern leads to nutritional ketosis. The KD has long been known for its antidiabetic and antiepileptic effects and has been used therapeutically in these contexts. Recently, the KD, due to its effectiveness in inducing weight loss, has also been proposed as a possible approach to treat obesity. Likewise, a KD is currently explored as a supporting element in the treatment of obesity-associated metabolic disorders and certain forms of cancer. Here, we discuss the meta