Long-term outcomes in two adult siblings with Fucosidosis - Diagnostic odyssey and clinical manifestations.

Fucosidosis (OMIN# 230000) is a rare lysosomal storage disorder (LSDs) caused by mutations in the gene, leading to alpha-L-fucosidase deficiency; it is inherited as an autosomal recessive trait. Fucosidosis represents a disease spectrum with a wide variety of clinical features, but most affected patients have slow neurologic deterioration. Many patients die young and the long-term clinical outcomes in adult patients are poorly documented.

Clonal Transitions and Phenotypic Evolution in Barrett's Esophagus.

Background & Aims: Barrett's esophagus (BE) is a risk factor for esophageal adenocarcinoma but our understanding of how it evolves is poorly understood. We investigated BE gland phenotype distribution, the clonal nature of phenotypic change, and how phenotypic diversity plays a role in progression.

Methods: Using immunohistochemistry and histology, we analyzed the distribution and the diversity of gland phenotype between and within biopsy specimens from patients with nondysplastic BE and those who had progressed to dysplasia or had developed postesophagectomy BE.

Evolutionary dynamics in Barrett oesophagus: implications for surveillance, risk stratification and therapy.

Cancer development is a dynamic evolutionary process characterized by marked intratumoural heterogeneity at the genetic, epigenetic and phenotypic levels. Barrett oesophagus, the pre-malignant condition to oesophageal adenocarcinoma (EAC), is an exemplary system to longitudinally study the evolution of malignancy. Evidence has emerged of Barrett oesophagus lesions pre-programmed for progression to EAC many years before clinical detection, indicating a considerable window for therapeutic intervention.

Heartburn sensation in nonerosive reflux disease: pattern of superficial sensory nerves expressing TRPV1 and epithelial cells expressing ASIC3 receptors.

The underlying causes of heartburn, characteristic symptom of gastroesophageal reflux disease (GERD), remain incompletely understood. Superficial afferent innervation of the esophageal mucosa in nonerosive reflux disease (NERD) may drive nociceptive reflux perception, but its acid-sensing role has not yet been established. Transient receptor potential vanilloid subfamily member-1 (TRPV1), transient receptor potential melastatin 8 (TRPM8), and acid-sensing ion channel 3 (ASIC3) are regulators of sensory nerve activity and could be important reflux-sensing receptors within the esophageal mucosa.

Is intracytoplasmic sperm (ICSI) better than traditional in vitro fertilization (IVF): confirmation of higher blastocyst rates per oocyte using a split insemination design.

Purpose: To explore the effects of traditional vs. intracytoplasmic sperm injection (ICSI) insemination method on the outcome of high-quality blastocyst development in a split sibling oocyte cohort.

Methods: In this retrospective cohort study, we analyzed 62 ICSI/IVF split cycles.

Surgical management of postcastration spermatic cord stump infection in horses: A retrospective study of 23 cases.

Objective: To report the surgical management and the short- and long-term follow-up of postcastration spermatic cord infection in horses.

Study Design: Retrospective case series.

Animals: Twenty-three client-owned horses.

Clinical features, treatment, and outcome in goats with thymomas: 13 cases (1990-2014).

OBJECTIVE To determine the anatomic location and clinical signs of thymoma in goats and long-term outcomes in a subset of goats treated by tumor excision. DESIGN Retrospective case series. ANIMALS 13 goats with a histologic diagnosis of thymoma at the Cornell University Hospital for Animals between 1990 and 2014.

Surgical treatment of 4 horses for cryptorchidism caused by failure of regression of the cranial suspensory ligament of the testis.

Objective: To report surgical management of 4 horses with cryptorchidism caused by failure of regression of the cranial suspensory ligament (CSL).

Study Design: Retrospective case series.

Animals: Cryptorchid horses (n = 4).

Effects of over-winter green cover on soil solution nitrate concentrations beneath tillage land.

There is a growing need to reduce nitrogen losses from agricultural systems to increase food production while reducing negative environmental impacts. The efficacy of vegetation cover for reducing nitrate leaching in tillage systems during fallow periods has been widely investigated. Nitrate leaching reductions by natural regeneration (i.

Bilateral parotid duct transposition for keratoconjunctivitis sicca in a Connemara stallion.

A 7-year-old Connemara stallion was presented with a 4 month history of blepharospasm, recurrent corneal ulcerations, mucopurulent ocular discharge, and keratoconjunctivitis sicca (KCS) in both eyes unresponsive to medical therapy. Ophthalmic examination revealed lackluster corneas, axial corneal scarring and pigmentation with associated neovascularization, and absolute KCS in both eyes. Computed tomography scan and endoscopic evaluation of the upper airway and guttural pouches revealed no structural abnormalities to indicate neurogenic KCS.

Effects of over-winter green cover on groundwater nitrate and dissolved organic carbon concentrations beneath tillage land.

Application of over-winter green cover (e.g. cover crops) as a measure for reducing nitrate losses from tillage land has been frequently investigated, especially in the unsaturated zone.

Use of in-cycle antimüllerian hormone levels to predict cycle outcome.

Objective: The goal of this work is to expand the usefulness of antimüllerian hormone (AMH) in predicting in vitro fertilization cycle outcome by demonstrating that AMH concentration obtained in an ongoing treatment cycle predicts both oocyte number and pregnancy.

Study Design: Serum samples were obtained from 190 in vitro fertilization patients at onset of follicle-stimulating hormone stimulation. These were analyzed retrospectively during a single cycle in which clinicians were blinded to the results.

Age-related normograms of serum antimüllerian hormone levels in a population of infertile women: a multicenter study.

Objective: To produce age-related normograms for serum antimüllerian hormone (AMH) level in infertile women without polycystic ovaries (non-PCO).

Design: Retrospective cohort analysis.

Setting: Fifteen academic reproductive centers.

Imaging diagnosis--equine nasal septal thickening due to chronic chondritis.

We describe the use of computed tomography (CT) in a 6-year-old mare with upper airway obstruction due to an abnormally thick nasal septum. Upon CT imaging, multifocal, expansile cyst-like lesions were detected in the nasal septum. The histopathologic diagnosis was chronic dissecting chondritis.

Non-association between Neo-5 personality tests and multiple mini-interview.

Most medical schools attempt to select applicants on the basis of cognitive and non-cognitive skills. Typically, interpersonal skills are assessed by interview, though relatively few applicants make it to interview. Thus, an efficient paper and pencil test of non-cognitive skills is needed.

Effect of a tart cherry juice blend on exercise-induced muscle damage in horses.

Objective: To evaluate whether administering a tart cherry juice blend (TCJB) prior to exercise would reduce skeletal and cardiac muscle damage by decreasing the inflammatory and oxidative stress response to exercise in horses.

Animals: 6 horses.

Procedures: Horses were randomly allocated into 2 groups in a crossover study with a 2-week washout period and orally administered either TCJB or a placebo solution (1.

Activity of selected rostral and caudal hyoid muscles in clinically normal horses during strenuous exercise.

Objective: To determine the phase and quantitate the electromyographic (EMG) activity of the genioglossus, geniohyoideus, hyoepiglotticus, omohyoideus, sternohyoideus, sternothyroideus, and thyrohyoideus muscles of clinically normal horses during strenuous exercise.

Animals: 7 clinically normal adult horses (2 Thoroughbreds and 5 Standardbreds).

Procedures: Bipolar electrodes were surgically implanted in the aforementioned muscles, and horses were subjected to an incremental exercise test on a high-speed treadmill.

The physical and social associations of common mental disorder in a tribal population in South India.

Background: Previous studies have shown high prevalence rates of Common Mental Disorder (CMD) in developing countries, however few have studied its relationship with physical morbidity.

Aims: To examine the association between CMD and anaemia, malnutrition and physical symptoms.

Method: Outpatients attending a hospital for tribal people in Kerala, India were interviewed to collect information on demographic characteristics, physical symptoms and life events.

A comparison of laryngoplasty and modified partial arytenoidectomy as treatments for laryngeal hemiplegia in exercising horses.

Objective: To compare upper airway mechanics, arterial blood gases, and tracheal contamination in horses with induced left laryngeal hemiplegia (recurrent laryngeal neuropathy [RLN]) treated by laryngoplasty/vocal cordectomy (LPVC) or modified partial arytenoidectomy (MPA).

Study Design: Repeated measures under the following conditions: Control, RLN, LPVC, and MPA.

Animals: Six horses.

The prevalence of epilepsy in the Zay Society, Ethiopia--an area of high prevalence.

Very high prevalence rates of epilepsy have been found in some developing countries. The Zay Society of Ethiopia was screened for epilepsy during a door-to-door survey and after neurological assessment, a prevalence of 29.5/1000 was found.

Umbilical herniorrhaphy in a juvenile Asian elephant (Elephas maximus).

An umbilical hernia was diagnosed in a 2-wk-old Asian elephant (Elephas maximus) by physical and ultrasonographic examinations. Umbilical herniorrhaphy was elected because the defect was large (approximately 7 cm long and 10 cm deep) and could potentially lead to incarceration of an intestinal loop. General anesthesia was induced with a combination of ketamine, xylazine, and diazepam and maintained with isoflurane in oxygen.

Serum estradiol positively predicts outcomes in patients undergoing in vitro fertilization.

In patients undergoing in vitro fertilization, the presence of higher E(2) levels at the time of hCG administration predict a greater likelihood of ongoing pregnancy.

Sound signature for identification and quantification of upper airway disease in horses.

Objective: To investigate whether upper airway sounds of horses exercising with laryngeal hemiplegia and alar fold paralysis have distinct sound characteristics, compared with unaffected horses.

Animals: 6 mature horses.

Procedure: Upper airway sounds were recorded in horses exercising on a high-speed treadmill at maximum heart rate (HR(MAX)) under 3 treatment conditions (ie, normal upper airway function [control condition], and after induction of left laryngeal hemiplegia or bilateral alar fold paralysis) in a randomized crossover design.