Effects of Neonatal Enzyme Replacement Therapy and Simvastatin Treatment on Cervical Spine Disease in Mucopolysaccharidosis I Dogs

Mucopolysaccharidosis I (MPS I) is a lysosomal storage disease characterized by deficient α‐L‐iduronidase activity, leading to the accumulation of poorly degraded glycosaminoglycans (GAGs). Children with MPS I exhibit high incidence of spine disease, including accelerated disc degeneration and vertebral dysplasia, which in turn lead to spinal cord compression and kyphoscoliosis. In this study we investigated the efficacy of neonatal enzyme replacement therapy (ERT), alone or in combination with oral simvastatin (ERT + SIM) for attenuating cervical spine disease progression in MPS I, using a canine model. Four groups were studied: normal controls; MPS I untreated; MPS I ERT‐treated; and MPS I ERT + SIM–treated. Animals were euthanized at age 1 year. Intervertebral disc condition and spinal cord compression were evaluated from magnetic resonance imaging (MRI) images and plain radiographs, vertebral bone condition and odontoid hypoplasia were evaluated using micro–computed tomography (µCT), and epiphyseal cartilage to bone conversion was evaluated histologically. Untreated MPS I animals exhibited more advanced disc degeneration and more severe spinal cord compression than normal animals. Both treatment groups resulted in partial preservation of disc condition and cord compression, with ERT + SIM not significantly better than ERT alone. Untreated MPS I animals had significantly lower vertebral trabecular bone volume and mineral density, whereas ERT treatment resulted in partial preservation of these properties. ERT + SIM treatment demonstrated similar, but not greater, efficacy. Both treatment groups partially normalized endochondral ossification in the vertebral epiphyses (as indicated by absence of persistent growth plate cartilage), and odontoid process size and morphology. These results indicate that ERT begun from a very early age attenuates the severity of cervical spine disease in MPS I, particularly for the vertebral bone and odontoid process, and that additional treatment with simvastatin does not provide a significant additional benefit over ERT alone. © 2014 American Society for Bone and Mineral Research.     

Management of facial and periocular dog bites: a review of 104 cases

Background

Dog bites are a frequent cause of facial and periocular injuries in both children and adults. This aim of this study is to review current practice in the management of facial and periorbital dog bite injuries and to examine the current evidence-base for such treatment strategies.

Methods

Five hundred eighty-seven patients with dog bite injuries requiring surgical intervention were identified from operating theatre records in one tertiary centre over a 9-year period. A retrospective case note review of 104 patients with facial and periorbital dog bite injuries was performed. Data on patient demographics, type of injury, treatment, and outcome was collected and analysed.

Results

The majority of patients were children, with a mean age of 11 years (range 1–91 years). Injuries involved the cheek in 57 cases (55 %), eyelids in 17 cases (16 %), lips in 24 cases (23 %) and nose in 8 cases (8 %). No facial fractures, canalicular, or globe injuries were recorded. All patients underwent irrigation, debridement, and primary wound closure. Surgical repair occurred within 24 h in 19 cases (18.2 %), within 48 h in 71 cases (68.3 %) and within 5 days in 14 cases (13.4 %). Three patients (2.9 %) developed a wound infection. Two patients (1.9 %) required scar revision surgery.

Conclusions

Periorbital and facial dog bite injuries may result in considerable morbidity. However, the majority of injuries are superficial and canalicular injury and bony injury is uncommon. Early wound irrigation, debridement and primary closure results in a good cosmetic outcome with a low risk of infection.

Level of Evidence:

Level IV, risk/prognostic study.     

Using amyloid PET imaging to diagnose Alzheimer’s disease in patients with multiple sclerosis

Journal of Neurology - Cognitive dysfunction affects 40–60% of individuals with multiple sclerosis (MS). The neuropsychological profile commonly consists of a subcortical pattern of deficits,...     

Changes in gastro-intestinal function in humans at an altitude of 3,500 m

Summary The gastric juice secretion, acid concentration and peptic activity were studied before and after pentagastrin stimulation in 10 sea level residents, first at sea level and then during 22 days sojourn at 3,500 m and in two other groups of 10 men, one of which consisted of natives of high altitude and the other of lowlanders acclimatized to high altitude. In addition, measurements of xylose excretion, energy, fat and protein utilization, along with fluid balance were made on sea level residents, referred to as sojourners, both at sea level and high altitude.The basal and maximal gastric juice volumes of the three groups at high altitude did not differ significantly. The maximal rate of acid production was lower in high altitude natives as compared to the other two groups. Peptic activity was higher in sojourners at high altitude, whereas it did not show any difference in acclimatised low landers as compared to sea level values of sojourners. There was no significant difference in D-xylose excretion in sojourners at high altitude. The food intake of sojourners was reduced at high altitude without any change in the efficiency of food utilization. There was no change in fluid balance.     

Awareness,Beliefs and Perspectives Regarding Weight Retention and Weight Gain among Postpartum Women in India: A Thematic Analysis of Focus Group Discussions and In-Depth Interviews

Background and AimsThe pregnancy weight is usually retained in the form of abdominal fat during the postpartum period. The willingness to lose weight is influenced by knowledge, attitude, beliefs and practices. This study aims to comprehend the awareness, beliefs and perspectives of postpartum women regarding their perceived factors, barriers and facilitators associated with post-pregnancy weight status.MethodsOverweight and obese postpartum women aged between 20 and 40 years and had delivered an infant in the last 2 years were recruited via convenience and purposive sampling techniques. The final sample comprised 27 participants with a mean age of 29.96 ± 4.50 years. Four focus group discussions and eight in-depth interviews carried out were audio-recorded and transcribed verbatim. Codes, sub-themes and themes were generated using Atlas.ti 9 software.ResultsMajor themes identified were perceived factors causing postpartum weight retention/weight gain including social and cultural beliefs related to diet and exercise specifically associated with this period, perceived motivators and deterrents of weight loss including eagerness to lose weight and perceived facilitators and barriers to weight loss including intrinsic and extrinsic factors such as time, energy, evidence-based knowledge about diet and physical activity, family support and obligation to family’s advice.ConclusionThe unique challenges and barriers associated with postpartum weight loss efforts should be taken into consideration by healthcare professionals and public health policy-makers to design strategies specific to postpartum women.Supplementary InformationThe online version contains supplementary material available at 10.1007/s13224-022-01644-9.