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Neuraminidase deficiency presenting as a nephrosialidosis: the first case detected in Poland.

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A defect of lysosomal neuraminidase (sialidase N-acetyl-neuramine acid hydrolase EC 3.2.1.18) leads to a wide spectrum of phenotypes, the most severe of which is nephrosialidosis. A 4-year-old boy of related parents, born at term with hydrops fetalis, is reported. Hydrocephalus was detected at 2

Ocular manifestations as first signs of systemic T cell lymphoma in two cases.

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BACKGROUND Intraocular involvement of systemic T-cell lymphomas are uncommon and have been broadly regarded as markers of poor prognosis. We reported two cases of uveitis patients finally diagnosed as systemic T cell lymphoma. METHODS Case one is a 19-year-old female presented with fever and liver

The role of alpha-agonists in glaucoma therapy.

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alpha-Agonists are a relatively old class of medications, the topical use of which lowers eye pressure. Clonidine was introduced for this use in 1966, brimonidine in 1974, and apraclonidine in 1978. Initial short-term attempts to use clonidine were complicated by problems with systemic hypotension.

Long-term variability in short-wavelength automated perimetry compared to standard perimetry in glaucoma patients and normal subjects.

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OBJECTIVE To compare long-term variability (LTV) in short-wavelength automated perimetry (SWAP) with that of standard white-on-white (W-W) perimetry, in primary open angle glaucoma (POAG) patients and normal subjects and to determine its clinical significance. METHODS The sample comprised 30

[Cardiac, respiratory and sleep disorders in patients with myotonic dystrophy].

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Myotonic dystrophy (MD) is a genetically determined disease with autosomal dominant mode of inheritance. Relatively recently, MD has been divided into two sub-types (MD1 and MD2). Clinical symptoms of MD1 result from the expansion of a (CTG)n trinucleotide of the gene coding for serine/threonine

Romiplostim in patients with refractory aplastic anaemia previously treated with immunosuppressive therapy: a dose-finding and long-term treatment phase 2 trial.

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Aplastic anaemia is a rare, life-threatening condition, characterised by pancytopenia with hypocellular bone marrow. Haematopoietic stem cells and most progenitor cells express thrombopoietin receptor (c-MPL). Romiplostim is a peptibody with c-MPL agonist activity that stimulates

Neurologic Complications of Radiation Therapy.

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Cranial radiation therapy (CRT) is used to treat a wide range of malignant and benign conditions and is associated with a unique set of risks and complications. Early complications from CRT include fatigue, skin reaction, alopecia, headaches, anorexia, nausea/vomiting, exacerbation of neurologic

[Clinical characteristics of patients with biopsy-proven sarcoid uveitis]

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Objective: To investigate the clinical features of patients with biopsy-proven sarcoid uveitis. Methods: The clinical data of the patients with biopsy-proven sarcoid uveitis who consulted the Ophthalmic Clinic of Beijing Tongren Hospital from February 2012 to February 2020 was

Biomonitoring of workers cleaning up ammunition waste sites.

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2,4,6-Trinitrotoluene (TNT) is an important occupational and environmental pollutant. In TNT-exposed humans, notable toxic manifestations have included aplastic anaemia, toxic hepatitis, cataracts, hepatomegaly and liver cancer. Therefore, it is important to develop protection measures and to

The antioxidative function, preventive action on disease and utilization of proanthocyanidins.

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Proanthocyanidins, which belong to a class of polyphenols, are widely distributed throughout the plant kingdom. Most people ingest trace amounts of proanthocyanidins through foods such as red wine and cranberry juice. However, the functional properties of proanthocyanidins have been little

Ptosis Correction

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The term “ptosis” is derived from the Greek word falling and refers to drooping of a body part. Blepharoptosis is upper eyelid drooping with the eyes in the primary position of gaze. The shape of one's eyes along with the position of the eyelids, shape, and position of the eyebrow

A Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic Spectrum of Mitochondrial MICU1 Deficiency: A Report of 13 Patients.

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MICU1 encodes a Ca2+ sensing, regulatory subunit of the mitochondrial uniporter, a selective calcium channel within the organelle's inner membrane. Ca2+ entry into mitochondria helps to buffer cytosolic Ca2+ transients and also activates ATP production within the organelle. Mutations in MICU1 have

Myotonic Dystrophies: Targeting Therapies for Multisystem Disease.

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Myotonic dystrophy is an autosomal dominant muscular dystrophy not only associated with muscle weakness, atrophy, and myotonia but also prominent multisystem involvement. There are 2 similar, but distinct, forms of myotonic dystrophy; type 1 is caused by a CTG repeat expansion in the DMPK gene, and

Myotonic Dystrophy Type 1 Management and Therapeutics.

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UNASSIGNED Myotonic dystrophy (DM1) is the most common form of adult muscular dystrophy. It is a multisystem disorder with a complex pathophysiology. Although inheritance is autosomal dominant, disease variability is attributed to anticipation, a maternal expansion bias, variable penetrance, somatic

Hirudin variants production by genetic engineered microbial factory.

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Hirudin was discovered as an active anticoagulant in leech extracts almost 60 years ago. Since their initial discovery, hirudin and its variants have been produced with various anti-thrombotic, cancer cell inhibition, diabetic cataract treatment and anti-fatigue activities. Some hirudin variants

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