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Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain.

We present a 32-year-old patient who, from age 7 months, developed photophobia, left-eye ptosis and progressive muscular weakness. At age 7 years, she showed normal psychomotor development, bilateral ptosis and exercise-induced weakness with severe acidosis. Basal blood and urine lactate were normal, increasing dramatically after effort. PDHc deficiency was demonstrated in muscle and fibroblasts without detectable PDHA1 mutations. Ketogenic diet was ineffective, however thiamine gave good response although bilateral ptosis and weakness with acidosis on exercise persisted. Recently, DLD gene an…

[Visual rehabilitation in patients with hereditary retinal dystrophy: current data from a Low Vision Department].

BACKGROUND: Especially during adolescence, hereditary retinal dystrophies can cause visual impairment. Because of their high mobility and wo … lasses shows that often simple magnifying aids are suitable for these patients. Because of the high photophobia, contrast-enhancing filters should always be considered.

Development and testing of the quality of life in children with vernal keratoconjunctivitis questionnaire.

PURPOSE: To develop and validate a questionnaire that measures health-related quality of life (HRQoL) in children with vernal keratoconjunct … ed itching (93%), burning (90%), redness (90%), the need to use eye drops (90%), tearing (83%), and photophobia (80%). The children's greatest concerns were limitations on going to the pool (71%), playing sports (58%), and meeting friends (58%). QUICK symptom scores were correlated significantly to conjunctival hyperemia (P < .001), secretion (P = .042), chem …

Dry eye in post-menopausal women using hormone replacement therapy.

PURPOSE: To evaluate the effect of hormone replacement therapy (HRT) on dry eye in post-menopausal women. METHODS: Forty post-menopausal women with dry eye (20 patients, group 1) and without dry eye (20 patients, group 2), and planning to receive HRT (estrogen plus progesterone), were recruited as the study groups. Forty age-matched untreated women were enrolled as controls (group 3 with dry eye, 5 patients; group 4 without dry eye, 35 patients). Patients having at least one of the symptoms (dryness, itching, photophobia, foreign body sensation, and tearing) together with two of the tests wit…

Primary iris melanoma: diagnostic features and outcome of conservative surgical treatment.

AIMS: To describe features influencing the management of primary iris melanoma and report the outcome of conservative surgical treatment of … is important in treatment planning. Iris reconstruction has a useful role in reducing postoperative photophobia.

[A case of recurrent Epstein-Barr virus meningitis].

A 17-year-old male was admitted to our hospital complaining of fever, headache and nausea. On physical examinations cervical and inguinal ly … e course EBV VCA IgG elevated to X160, EBV VCA IgM elevated to X20. Slight respiratory disturbance, photophobia, and dysosmia were noted. One month later, clinical symptoms and laboratory data improved, the patient was discharged. Forty days after the discharge, headache was excerbated and increased CSF protein (100mg/dl) and pleocytosis (33/3mm3) were noted. …

Clinical and biochemical differences between hantavirus infection and leptospirosis: a retrospective analysis of a patient series in Belgium.

Objectives: Hantavirus infection and leptospirosis are infectious diseases transmitted by rodents. The clinical picture is nonspecific, often involving the kidneys but other organs can be affected too. Clinical and biochemical clues to make a difference between these two entities will be described.Methods: A retrospective analysis was performed on a database of patients presenting between January 2012 and September 2017 at the emergency department of the university hospital Leuven, Belgium. Patients were selected on the basis of a compatible clinical picture, biochemistry, and microbiological

Subarachnoid Mirage: A Case of Pseudosubarachnoid Hemorrhage.

A 22-year-old man with a history of intravenous methamphetamine use presented with severe headache for 5 days, was afebrile, and had nuchal rigidity. Computed tomography and magnetic resonance imaging results were interpreted as revealing acute subarachnoid hemorrhage. Twenty-four hours later, he developed acute neurologic deterioration. A lumbar puncture was performed, revealing the presence of Staphylococcus aureus. The false-positive image mimicking blood was potentially a result of an extremely high protein concentration present in the cerebrospinal fluid, provoked by an intense inflammato

Systematic review of outcomes and endpoints in acute migraine clinical trials.

BACKGROUND/OBJECTIVE: To review the acute migraine clinical trial literature and provide a summary of the endpoints and outcomes used in suc … ries: (a) pain-related outcomes (pain relief, pain freedom, etc.), (b) associated symptoms (nausea, photophobia, etc.), (c) disability/impairment/impact, (d) patient-reported outcome measures (PROMs, general health and migraine/headache-specific). Endpoint types were categorized within three broad categories: (a) change from baseline, (b) fixed timepoint, and …

Pearls and oy-sters: tuberculous meningitis: not a diagnosis of exclusion.

A 21-year-old man presented to his local emergency department with 5 days of headache, which was dull, occipital, bilateral, nonthrobbing, and progressively worsening. It was associated with mild fever, photophobia, and neck pain and stiffness. He had no history of headache, chronic illness, recent vaccinations, cutaneous rash, cough, diarrhea, arthralgia, or myalgia. He was from Ecuador and had been living in the United States for less than 1 year. He had been incarcerated while in Ecuador. Sublingual temperature on admission was 102.6°F. Other vital signs were within normal limits. On physic…

Exome-wide screening discovers novel pathogenic variants in Vietnamese primary congenital glaucoma patients.

BACKGROUND: Primary congenital glaucoma (PCG), the most prevalent pediatric variant, is a major contributor of childhood blindness globally. Traditional diagnosis relies on clinical features such as the classic triad (epiphora, photophobia, and blepharospasm), elevated intraocular pressure (IOP), corneal enlargement and optic disc cupping. Early diagnosis remains challenging as the conventional diagnosis often requires cooperation from pediatric patients. OBJECTIVE: To identify the genetic etiology and underlying variants in a cohort of Vietnamese patients diagnosed with PCG using WES. METHO…

Headache as the Primary Manifestation of Pituitary Hyperplasia Secondary to Primary Hypothyroidism: A Case Report.

INTRODUCTION: Pituitary hyperplasia secondary to primary hypothyroidism (PHPH) is a rare condition caused by untreated hypothyroidism, leadi … es. CASE PRESENTATION: A 16-year-old female presented with severe, medication-resistant headaches, photophobia, and nausea. MRI revealed pituitary enlargement (12 × 11 × 9 mm) and a Rathke's cleft cyst. Laboratory tests confirmed severe primary hypothyroidism (thyroid-stimulating hormone [TSH]: 117 mIU/L [reference range 0.4-4.5], free T4: 0.34 ng/dL [RR: 0. …

Evaluation of a new classification system for measuring the progression of ocular cystinosis: an analysis of 64 patients.

AIMS: To analyse the correlation between the physician categories defined by the 3C classification (crystal-complication-compliance) and the ocular manifestations of nephropathic cystinosis. METHODS: The last visit data of 64 patients aged between 2 and 64 attending the centre for management of cystinosis were reviewed. Each patient had been placed into one of four categories by the clinician based on disease severity. The correlation between these categories and markers of the disease was assessed using Pearson's correlation. RESULTS: Photophobia (0.647, p<0.001), visual acuity (-0.695, p<0…

Efficacy of Myopia Prevention in At-Risk Children: A Systematic Review and Network Meta-Analysis.

Objectives: To evaluate the efficacy of myopia prevention methods in children without pre-existing myopia. Methods: A network meta-analysis … activities and myopia awareness programs demonstrated moderate efficacy. Adverse events, including photophobia and dry eyes, were minor and self-limiting, with no serious complications reported. Conclusions: Low-level red light therapy and low-dose atropine are the most effective, generally safe strategies for preventing myopia in at-risk children without my …

Patients' Values and Preferences Regarding the Pharmacologic Treatment of Acute Episodic Migraine : A Rapid Review.

BACKGROUND: Understanding patients' values and preferences is essential for guideline development. PURPOSE: To identify and synthesize evid … te COE). Relieving nausea and vomiting was more important than other accompanying symptoms, such as photophobia (moderate COE). Cost was not important (moderate COE). LIMITATIONS: The choices in the included studies differed, making synthesis difficult and reducing certainty. Generalizability is limited because the included studies span 29 years and included …

Pyrenochaeta unguis-hominis-associated fungal keratitis: A rare case report with in vivo confocal microscopy findings.

PURPOSE: Pyrenochaeta unguis-hominis, also known as Neocucurbitaria unguis-hominis, is a rare fungal pathogen typically isolated from skin and nail infections. Recently, it has been identified as a cause of fungal keratitis, particularly among contact lens wearers. This case report documents the occurrence of Pyrenochaeta unguis-hominis keratitis in Austria and the visualization of changes in the corneal stroma using in vivo confocal microscopy (IVCM). OBSERVATIONS: A 48-year-old female patient presented with severe photophobia and acute pain in her left eye, following extended wear of soft c…

Bilateral neurotrophic keratitis associated with Gilteritinib therapy in a patient with acute myeloid leukemia: a case report.

INTRODUCTION: We report the first documented case of bilateral neurotrophic keratitis potentially associated with Gilteritinib therapy. CASE PRESENTATION: A 52-year-old male patient presented with bilateral blurred vision and photophobia due to neurotrophic keratitis, which developed after two years of treatment with Gilteritinib - a second-generation tyrosine kinase inhibitor (TKI) used for relapsed or refractory acute myeloid leukemia (AML) with a confirmed FMS-like tyrosine kinase 3 (FLT3) mutation. His best-corrected visual acuity (BCVA) was 20/100 in the right eye and 20/40 in the left e…

Larvae of Gazalina chrysolopha can lead to atypical ophthalmia nodosa like features: A case report with imaging and management insights.

BACKGROUND: Ophthalmia nodosa is an ocular inflammatory condition caused by the penetration of barbed insect hairs (setae) into ocular tissu … larly in the form of ophthalmia nodosa. CASE PRESENTATION: A 56-year-old male presented with acute photophobia, redness, and foreign body sensation in the right eye following exposure to white moth larvae during tree-cutting activities. Slit-lamp examination revealed multiple translucent setae embedded in the upper palpebral conjunctiva and corneal stroma, a …

Окулярная токсичность целевой терапии и иммунотерапии гематологов.

Целенаправленная терапия и иммунная терапия изменили методы борьбы с гематологическими заболеваниями. Однако эти агенты могут также иметь непреднамеренные окулярные неблагоприятные последствия. Эти токсичные вещества часто недооцениваются, но могут существенно повлиять на качество жизни пациентов и на процесс принятия терапевтических решений. Всеобъемлющее понимание этих последствий имеет важное значение для междисциплинарного управления. В этом обзоре обобщаются имеющиеся в настоящее время данные об окулярной токсичности, связанной с современными целенаправленными и иммунными терапиями, испол

Совпадение в аннотации оригинала
Targeted therapies and immune-based treatments have transformed the management of hematologic malignancies. However, these agents can also r … itors. Chimeric antigen receptor T-cell therapies commonly induce neuro-ophthalmic symptoms such as photophobia and visual disturbances, frequently in association with neurotoxicity syndromes. Tyrosine kinase inhibitors were associated with a range of effects, including periorbital edema, uveitis, and retinal vascular complications. Immune checkpoint inhibito …

Cerebrospinal Fluid Cutaneous Fistula Following Neuraxial Anesthesia in a Placenta Previa Case: A Rare Complication.

Cerebrospinal fluid (CSF) cutaneous fistula is a rare complication of neuraxial anesthesia, caused by CSF leakage through the epidural punct … asing with the Valsalva maneuver. The patient remained apyretic and asymptomatic, with no headache, photophobia, or neurological signs. Given the classical cesarean section (vertical hysterotomy), increased intra-abdominal pressure was suspected to contribute to persistent leakage. A multidisciplinary discussion led to initial conservative management (bed res …