Treatment with BRAF/MEK: inhibitors in mutant BRAF V600E papillary craniopharyngioma.

Summary: Craniopharyngiomas (CPs) are rare brain epithelial tumours arising in the suprasellar region, infiltrating adjacent areas causing visual loss, panhypopituitarism, cognitive deficits and morbid obesity. Papillary CPs (PCPs) harbour in 94% BRAF mutation cases. Two patients with PCP and BRAF V600E mutations but with different tumour status were treated with BRAF and MEK inhibitors.

A Novel Type of Autosomal Dominant Episodic Nystagmus Segregating with a Variant in the FRMD5 Gene.

To describe the phenotype of a novel form of autosomal dominant episodic nystagmus and to identify the potential genetic aetiology. We identified several individuals in a large Swedish family affected by episodic nystagmus. In total, 39 family members from five generations were invited to participate in the study, of which 17 were included (12 affected and 5 unaffected).

The use of intravenous methylprednisolone in giant cell arteritis-a population-based study.

Objectives: To determine clinical characteristics, outcome, and occurrence of comorbidities in patients with biopsy-confirmed giant cell arteritis (GCA) treated with intravenous methylprednisolone (IVMP) vs those receiving oral glucocorticoids (OGC) only.

Methods: A retrospective study included patients with GCA diagnosed from 2004 through 2019. Clinical and laboratory characteristics, and cumulative GC dose were compared in patients receiving IVMP vs OGCs.

Visual acuity in patients with non-functioning pituitary adenoma: Prognostic factors and long-term outcome after surgery.

Background: Visual acuity (VA) and visual field defects (VF) are evaluated in the preoperative management of non-functioning pituitary adenoma (NFPA). The former is less studied than the latter.

Research Question: To analyze preoperative factors, including adenoma volumetry, associated with reduced VA and postoperative improvement of VA over five years after surgery.

Comparison of perimetric 24-2 and 30-2 test patterns in detecting visual field defects in patients with tumours in the pituitary region.

Purpose: Automated perimetry provides a standardized method of measuring the visual field. The Humphrey Field Analyser (HFA) uses the 24-2 test pattern to cover 24 degrees centrally or the 30-2 test pattern to cover a slightly broader region of 30 degrees. The aim of this study was to determine whether the 24-2 test pattern provides comparable information to the 30-2 test pattern in detecting visual field defects in patients with tumours in the pituitary region.

Mapping the architecture of the temporal artery with photoacoustic imaging for diagnosing giant cell arteritis.

Photoacoustic (PA) imaging is rapidly emerging as a promising clinical diagnostic tool. One of the main applications of PA imaging is to image vascular networks in humans. This relies on the signal obtained from oxygenated and deoxygenated hemoglobin, which limits imaging of the vessel wall itself.

Ultrasound centre frequency shifts as a novel approach for diagnosing giant cell arteritis.

Objective: Giant cell arteritis (GCA) is a treatable, but potentially sight- and life-threatening form of systemic vasculitis. Prompt and correct diagnosis is therefore important. Temporal artery biopsy (TAB) is the gold standard for diagnosing GCA, but is associated with risks.

Waveform characterisation and comparison of nystagmus eye-tracking signals.

Objective: Pathological nystagmus is a symptom of oculomotor disease where the eyes oscillate involuntarily. The underlying cause of the nystagmus and the characteristics of the oscillatory eye movements are patient specific. An important part of clinical assessment in nystagmus patients is therefore to characterise different recorded eye-tracking signals, i.

Photoacoustic imaging for non-invasive examination of the healthy temporal artery - systematic evaluation of visual function in healthy subjects.

Purpose: Photoacoustic (PA) imaging has the potential to become a non-invasive diagnostic tool for giant cell arteritis, as shown in pilot experiments on seven patients undergoing surgery. Here, we present a detailed evaluation of the safety regarding visual function and patient tolerability in healthy subjects, and define the spectral signature in the healthy temporal artery.

Methods: Photoacoustic scanning of the temporal artery was performed in 12 healthy subjects using 59 wavelengths (from 680 nm to 970 nm).

Modeling and quality assessment of nystagmus eye movements recorded using an eye-tracker.

Mathematical modeling of nystagmus oscillations is a technique with applications in diagnostics, treatment evaluation, and acuity testing. Modeling is a powerful tool for the analysis of nystagmus oscillations but quality assessment of the input data is needed in order to avoid misinterpretation of the modeling results. In this work, we propose a signal quality metric for nystagmus waveforms, the normalized segment error (NSE).

Clinical Translation of a Novel Photoacoustic Imaging System for Examining the Temporal Artery.

The objective was to provide a clinical setup for photoacoustic imaging (PAI) of the temporal artery in humans and to describe the challenges encountered and methods of overcoming them. The temporal artery was examined in seven patients with suspect giant-cell arteritis (GCA), both in vivo and ex vivo, and the results were compared to that of histology. To adapt PAI to the human studies, the transducer was fixed to an adjustable arm to reduce motion artifacts, and a stepping motor was developed to enable 3-D scanning.

A robust method for calibration of eye tracking data recorded during nystagmus.

Eye tracking is a useful tool when studying the oscillatory eye movements associated with nystagmus. However, this oscillatory nature of nystagmus is problematic during calibration since it introduces uncertainty about where the person is actually looking. This renders comparisons between separate recordings unreliable.

Visual outcome is similar in optic neuritis patients treated with oral and i.v. high-dose methylprednisolone: a retrospective study on 56 patients.

Background: To investigate visual recovery after treatment of acute optic neuritis (ON) with either oral or intravenous high-dose methylprednisolone, in order to establish the best route of administration.

Methods: Retrospective analysis of patients treated with oral or intravenous high-dose (≥500 mg per day) methylprednisolone for acute ON of unknown or demyelinating etiology. Twenty-eight patients were included in each treatment group.

Comparison of a new digital KM screen test with conventional Hess and Lees screen tests in the mapping of ocular deviations.

Purpose: To evaluate the digital KM screen computerized ocular motility test and to compare it with conventional nondigital techniques using the Hess and Lees screens.

Methods: Patients with known ocular deviations and a visual acuity of at least 20/100 underwent testing using the digital KM screen and the Hess and Lees screen tests. The examination duration, the subjectively perceived difficulty, and the patient's method of choice were compared for the three tests.

Magnetic resonance findings in the pregeniculate visual pathways in Leber hereditary optic neuropathy.

Two relatives, a 61-year-old man and the 21-year-old grandson of his sister, suffered from bilateral visual loss and were diagnosed with Leber hereditary optic neuropathy. In both cases, the diagnosis was molecularly confirmed with the 11778 mitochondrial mutation. MRI showed increased T2 signal not only in the optic nerves and chiasm but also in the optic tracts, extending to the lateral geniculate bodies.

Dystrophia Helsinglandica--corneal morphology, topography and sensitivity in a hereditary corneal disease with recurrent erosive episodes.

Purpose: The aim of this study was to describe the morphology, corneal topography and sensitivity in individuals with Dystrophia Helsinglandica. This autosomal dominant corneal disease is characterized by recurrent corneal erosive episodes and progressive subepithelial fibrosis not significantly affecting visual acuity.

Methods: The corneas of nine affected and nine unaffected individuals were examined using slit-lamp biomicroscopy, in vivo confocal microscopy (IVCM) and videokeratography.

Dystrophia Smolandiensis: a novel morphological picture of recurrent corneal erosions.

Purpose: The aim of this study was to describe morphological changes in Dystrophia Smolandiensis, a corneal disease that is characterized by recurrent corneal erosive episodes and the formation of central corneal keloid-like opacities in approximately half of those affected.

Methods: The corneas of seven affected individuals were examined using in-vivo confocal microscopy. Specimens of one primary corneal graft, one regraft and one biopsied keloid-like region--all obtained from members of a large family with the disease--were re-examined with a light microscope.

A new corneal disease with recurrent erosive episodes and autosomal-dominant inheritance.

Purpose: The aim of this study was to characterize the phenotype in a large family with autosomal-dominant recurrent corneal erosions, and also to exclude genetic linkage to known autosomal-dominant inherited corneal dystrophies with clinical resemblance.

Methods: We describe the medical history and clinical findings in patients from a six-generation family with recurrent corneal erosions. A total of 28 individuals were evaluated by ophthalmological examination.

Dystrophia Helsinglandica: a new type of hereditary corneal recurrent erosions with late subepithelial fibrosis.

Purpose: To describe the phenotype of an autosomal-dominant corneal dystrophy with an early onset of recurrent corneal erosions and development of subepithelial fibrosis in the cornea, and also to exclude genetic linkage to known corneal dystrophies with autosomal-dominant inheritance and clinical resemblance.

Methods: We describe the medical history and clinical findings in individuals from a seven-generation family with recurrent corneal erosions. A total of 43 individuals were evaluated by ophthalmological examination.

Haemangiomas of the breast in children.

Capillary hemangioma of the breast parenchyma is a rare finding in the pediatric age group. The condition was diagnosed in two children, aged 18 months and three years. Such lesions have occasionally been found during histologic surveys among asymptomatic adult women.

[Congenital inguinal hernia in female triplets].

Each of tri-zygotic female triplets was found to have a right-sided sliding inguinal hernia. Although inguinal hernia has been previously diagnosed in twins, as well as in relatives of patients with hernias, a genetic basis for the condition has not been established.

Penetration of clindamycin and metronidazole into the appendix and peritoneal fluid in children.

Thirty-one children underwent appendectomy following administration of a single i.v. dose of clindamycin 10 mg/kg or metronidazole 7.

Endometriosis of the colon.

A case of endometriosis of the colon is presented. The incidence, symptomatology and treatment are discussed.