Familial Nanophthalmos Presenting with Spontaneous Uveal Effusion Syndrome

ABSTRACT

Purpose: To report two unique cases of spontaneous uveal effusion syndrome (UES) from the same family.

Methods: The patients included father (54 years old) and a daughter (23 years old). The father presented 7 years ago with bilateral exudative retinal detachment, nanophthalmic eyes (axial length 16.11 mm and 16.43 mm in right and left eyes, respectively) with hypermetropia, and a thickened sclera on MRI. The daughter presented with left eye peripheral exudative annular retinal detachment with bilateral nanophthalmos (axial length 20.7 mm and 20.33 mm, in right and left eyes, respectively), with MRI showing ciliochoroidal detachment, suprachoroidal effusion and mild thickening of the sclera in left eye.

Results: The father underwent subscleral sclerectomy in the left eye that led to resolution of submacular fluid. Scleral biopsy confirmed the deposition of glycosaminoglycans on Alcian blue stain. The daughter was kept under observation, because of absence of any macular subretinal fluid, and counselled about the familial nature of the disease and possible need for future intervention.

Conclusion: This is the first report of familial nanophthalmos presenting with spontaneous UES.     

Coformulation of Broadly Neutralizing Antibodies 3BNC117 and PGT121: Analytical Challenges During Preformulation Characterization and Storage Stability Studies

In this study, we investigated analytical challenges associated with the formulation of 2 anti-HIV broadly neutralizing antibodies (bnAbs), 3BNC117 and PGT121, both separately at 100 mg/mL and together at 50 mg/mL each. The bnAb formulations were characterized for relative solubility and conformational stability followed by accelerated and real-time stability studies. Although the bnAbs were stable during 4°C storage, incubation at 40°C differentiated their stability profiles. Specific concentration-dependent aggregation rates at 30°C and 40°C were measured by size exclusion chromatography for the individual bnAbs with the mixture showing intermediate behavior. Interestingly, although the relative ratio of the 2 bnAbs remained constant at 4°C, the ratio of 3BNC117 to PGT121 increased in the dimer that formed during storage at 40°C. A mass spectrometry-based multiattribute method, identified and quantified differences in modifications of the Fab regions for each bnAb within the mixture including clipping, oxidation, deamidation, and isomerization sites. Each bnAb showed slight differences in the levels and sites of lysine residue glycations. Together, these data demonstrate the ability to differentiate degradation products from individual antibodies within the bnAb mixture, and that degradation rates are influenced not only by the individual bnAb concentrations but also by the mixture concentration.     

The SLC6A3 3′-UTR VNTR and intron 8 VNTR polymorphisms association in the time estimation

Objective

The present study investigated the association of 3′-UTR VNTR and intron 8 VNTR polymorphisms with a time estimation task performance.

Materials and methods

One hundred and eight men in a Brazilian Northeast population (18–32 years old) participated in the experiment. The 3′-UTR VNTR and intron 8 VNTR polymorphisms were associated alone and combined to absolute error (AE) and relative error (RE) in a time estimation task (target duration: 1 s, 4 s, 7 s and 9 s).

Results

We found an association of the behavioral variable with intron 8 VNTR for the time intervals of 1 s and 9 s (p < 0.001) and polymorphisms combinatorial effect for 1 s (p ≤ 0.05).

Conclusion

The intron 8 VNTR polymorphism and the combinatorial effect can modulate the time estimate in the domain of supra seconds, and thus our study indicates a role of the dopamine transporter in the neurobiological areas related to the time intervals judgment.

     

The midterm results of a cohort study of patellofemoral arthroplasty from a non-designer centre using an asymmetric trochlear prosthesis

PurposePatellofemoral arthroplasty (PFA) prosthesis with asymmetric trochlear component was introduced as an improvement from existing designs for surgical treatment of symptomatic isolated patellofemoral arthritis. The purpose of this study was to evaluate midterm results in patients who underwent PFA procedure using such prosthesis.MethodsOur study involved a continuous retrospective cohort of patients who underwent PFA using Journey PFA prosthesis with an asymmetric trochlear component, performed between June 2007 and July 2016 at a non-designer centre. The Patient Reported Outcome Measures and patient satisfaction questionnaires were collected for final evaluation.ResultsA total of 103 PFA performed on 79 patients were evaluated. Median age at the time of surgery was 58 years (range 42 to 78 years); the mean follow-up period was 6 years (range 2 to 11 years). Four knees were revised to Total Knee Arthroplasty for reasons not related to the implant. The cumulative survival estimated by the Kaplan–Meier method was 94.3% (95% confidence interval: 88.4%–100%). There were statistically significant improvements in functional outcome scores.ConclusionThis series of patients who underwent PFA with the asymmetric trochlear component has shown promising mid-term results with no implant-related complications.     

Global oral health inequalities in incidence and outcomes for oral cancer: causes and solutions

The mouth and oropharynx are among the ten most common sites affected by cancer worldwide, but global incidence varies widely. Five-year survival rates exceed 50% in only the best treatment centers. Causes are predominantly lifestyle-related: Tobacco, areca nut, alcohol, poor diet, viral infections, and pollution are all important etiological factors. Oral cancer is a disease of the poor and dispossessed, and reducing social inequalities requires national policies co-ordinated with wider health and social initiatives - the common risk factor approach: control of the environment; safe water; adequate food; public and professional education about early signs and symptoms; early diagnosis and intervention; evidence-based treatments appropriate to available resources; and thoughtful rehabilitation and palliative care. Reductions in inequalities, both within and between countries, are more likely to accrue from the application of existing knowledge in a whole-of-society approach. Basic research aimed at determining individual predisposition and acquired genetic determinants of carcinogenesis and tumor progression, thus allowing for targeted therapies, should be pursued opportunistically.     

Non-syndromic multiple impacted supernumerary teeth with peripheral giant cell granuloma

Peripheral giant cell granuloma (PGCG) is a relatively frequent benign reactive lesion of the gingiva, originating from the periosteum or periodontal membrane following local irritation or chronic trauma. PGCG manifests as a red-purple nodule located in the region of the gingiva or edentulous alveolar margins. The lesion can develop at any age, although it is more common between the second and third decades of life, and shows a slight female predilection. PGCG is a soft tissue lesion that very rarely affects the underlying bone, although the latter may suffer superficial erosion. A supernumerary tooth is one that is additional to the normal series and can be found in almost any region of the dental arch. These teeth may be single, multiple, erupted or unerupted and may or may not be associated with syndrome. Usually, they cause one or the other problem in eruption or alignment of teeth, but may also present without disturbing the normal occlusion or eruption pattern. Management of these teeth depends on the symptoms. Presented here is a case of PGCG in relation to the lower left permanent first molar with three supernumerary teeth in the mandibular arch but no associated syndrome.     

Gorlin syndrome: a case report

Gorlin syndrome is an autosomal dominant inherited condition that exhibits high penetrance and variable expressivity. It is characterized mainly by Basal cell carcinomas, Odontogenic keratocysts and skeletal anomalies. However, medical literature documents both common and lesser known manifestations of the disorder involving the skin, central nervous system, skeletal system etc. Diagnosis of the syndrome in childhood is basically through oral abnormalities. A case of Gorlin syndrome has been reported here, with review of literature.