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We report a 10‐year‐old boy with a de novo pathogenic variant in ALDH18A1, a rare form of metabolic cutis laxa, which was complicated by atlantoaxial instability and spinal cord compression following a fall from standing height. The patient required emergent cervical spine fusion and decompression followed by a 2‐month hospitalization and rehabilitation. In addition to the core clinical features of joint and skin laxity, hypotonia, and developmental delays, we expand the connective tissue phenotype by adding a new potential feature of cervical spine instability. Patients with pathogenic variants in ALDH18A1 may warrant cervical spine screening to minimize possible morbidity. Neurosurgeons, geneticists, primary care providers, and families should be aware of the increased risk of severe cervical injury from minor trauma. [ABSTRACT FROM AUTHOR]

Skull base osteomyelitis is a rare but dangerous consequence of untreated malignant otitis externa. Pseudomonas aeruginosa is responsible for most cases with typical presentation. Here, we discuss a diabetic 54‐year‐old female presented with malignant otitis externa and bilateral facial paresis followed by cervical spondylitis and C1‐C2 instability. Skull base osteomyelitis confirmed by clinical presentation, imaging, and laboratory data. Fortunately, she responded well to antibacterial and antifungal therapy. Due to limited data, there is no confirmed standard of treatment for cervical instability secondary to SBO. It seems antibiotic therapy is the mainstay of treatment. In case of poor response to antibiotic therapy, surgical intervention is inevitable. This article introduces the first case of SBO‐related AAI successfully managed with conservative treatment. Skull base osteomyelitis (SBO) following malignant otitis externa (MOE) is not common but can be a debilitating condition. Appropriate and early diagnosis is crucial for preventing morbidity and mortality. Cranial nerves paresis and atlantoaxial instability are rare manifestation and are in favor of skull base involvement. [ABSTRACT FROM AUTHOR]

Objective: To study the distribution of sympathetic nerves of the ligamentum flavum (LF), confirm its existence by histological observation and nuclear magnetic resonance spectroscopy, and analyze the relationship between sympathetic nerve fibers and the biomechanical structure of the LF. Methods: Randomly controlled scientific research selected 15 cases of posterior surgery in the affiliated hospital of Qingdao University from January 2013 to December 2019. The average age was 67.5 ± 14.5 years old, eight males and seven females. The LF specimens (completely separated fresh tissue) of different segments (C3‐7) were taken during the operation. Two pages of LF specimens on the left and right sides of the same segment are randomly allocated by the pairing method for formalin fixation and cryopreservation in liquid nitrogen. LF specimens extracted from seven other adult cadaver specimens (average age at death of about 56.8 ± 4.0 years, three males and four females) were used as a control group; together with formalin‐ fixed specimens obtained during surgery, 3D slices were given layer by layer. The distribution of sympathetic nerves in different parts of the LF was analyzed by glyoxylic acid‐induced biological monoamine fluorescent technique (SPG) and hematoxylin–eosin (HE) staining. Fifteen liquid nitrogen storage specimens were divided into the back of the LF and the spinal canal through frozen sections, and were analyzed by nuclear magnetic resonance spectroscopy‐hydrogen spectrum (1H ‐NMR) for neurotransmitters and neurometabolites. Results: There were type C sympathetic nerve fibers in the LF, which were divided into linear shape (α) and wave shape (β). Experimental group (χ2 = 1.705, P > 0.05) and control group (χ2 = 0.879, P > 0.05) can detect no difference in fluorescence units. Nerve fiber transmitter metabolites choline (Cho), creator (Cr), γ‐aminobutyric acid (GABA) also indicate that the sympathetic nerve is present in the LF. LF sympathetic nerve fibers were mainly distributed in the proximal spinal canal surface, nerve fibers on the medial belt (area II) were fewer than the lateral belt (area I) (W = 210, P < 0.05). The 1HNMR spectrum of LF spinal canal PG / Cho (t = 8.721, P < 0.05), GABA (t = 16.01, P < 0.05) value increased, lactic acid (Lac) / Cr (t = 4.213, P < 0.05), Cho / Cr (t = 2.402, P < 0.05) value decreased, indicating that nerve fibers are actively metabolized on the surface of the spinal canal, mainly distributed in tube surface. βtype fibers were more often distributed around microvessels. A small amount of α type fibers went next to the vascular structures, while α type fibers and β type fibers go cross within LF. Two patients with vertebral artery dissection had no recurrence of sympathetic symptoms within a total of 12 follow‐ups 2 years after discharge. Conclusions: There are many sympathetic nerve fibers distributed on LF, and their distribution may be correlated with histological and mechanical characteristics of LF. It may also be the anatomical basis of cervical vertigo. [ABSTRACT FROM AUTHOR]

Background: The efficacy of treatment of dogs with cervical spondylomyelopathy (CSM) is commonly based on the owner's and clinician's perception of the gait, which is highly subjective and suffers from observer bias. Hypothesis/Objectives: To compare selected kinetic and kinematic parameters before and after treatments and to correlate the findings of gait analysis to clinical outcome. Animals: Eight Doberman Pinschers with CSM confirmed by magnetic resonsance imaging. Methods: Patients were prospectively studied and treated with either medical management (n=5) or surgery (n=3). Force plate analysis and 3-D kinematic motion capture were performed at initial presentation and approximately 8 weeks later. Force plate parameters evaluated included peak vertical force (PVF). Kinematic parameters measured included number of pelvic limb strides, stifle flexion and extension, maximum and minimum thoracic limb distance, truncal sway, and thoracic limb stride duration. Results: Kinematic analysis showed that deviation of the spine to the right (truncal sway) was significantly smaller (P<.001) and the degree of right stifle flexion was significantly larger (P=.029) after treatment. Force plate analysis indicated that PVF was significantly different after treatment (P=.049) and the difference of the PVF also was significantly larger (P=.027). However, no correlation was found with either method of gait analysis and clinical recovery. Conclusions and Clinical Importance: Kinetic and kinematic gait analysis were able to detect differences in dogs with CSM before and after treatment. A correlation of gait analysis to clinical improvement could not be determined. [ABSTRACT FROM AUTHOR]

We report two unrelated patients with a multisystem disease involving liver, eye, immune system, connective tissue, and bone, caused by biallelic mutations in the neuroblastoma amplified sequence (NBAS) gene. Both presented as infants with recurrent episodes triggered by fever with vomiting, dehydration, and elevated transaminases. They had frequent infections, hypogammaglobulinemia, reduced natural killer cells, and the Pelger-Huët anomaly of their granulocytes. Their facial features were similar with a pointed chin and proptosis; loose skin and reduced subcutaneous fat gave them a progeroid appearance. Skeletal features included short stature, slender bones, epiphyseal dysplasia with multiple phalangeal pseudo-epiphyses, and small C1-C2 vertebrae causing cervical instability and myelopathy. Retinal dystrophy and optic atrophy were present in one patient. NBAS is a component of the synthaxin-18 complex and is involved in nonsense-mediated mRNA decay control. Putative loss-of-function mutations in NBAS are already known to cause disease in humans. A specific founder mutation has been associated with short stature, optic nerve atrophy and Pelger-Huët anomaly of granulocytes (SOPH) in the Siberian Yakut population. A more recent report associates NBAS mutations with recurrent acute liver failure in infancy in a group of patients of European descent. Our observations indicate that the phenotypic spectrum of NBAS deficiency is wider than previously known and includes skeletal, hepatic, metabolic, and immunologic aspects. Early recognition of the skeletal phenotype is important for preventive management of cervical instability. [ABSTRACT FROM AUTHOR]

Background The optimal treatment of cervical spondylomyelopathy ( CSM) is controversial, with the owner's and clinician's perception of gait improvement often being used as outcome measures. These methods are subjective and suffer from observer bias. Objectives To establish kinematic gait parameters utilizing digital motion capture in normal Doberman Pinschers and compare them with CSM-affected Dobermans. Animals Nineteen Doberman Pinschers; 10 clinically normal and 9 with CSM. Methods All dogs were enrolled prospectively and fitted with a Lycra® body suit, and motion capture was performed and used to reconstruct a 3-D stick diagram representation of each dog based on 32 reflective markers, from which several parameters were measured. These included stride duration, length, and height; maximal and minimal spinal angles; elbow and stifle flexion and extension; and maximum and minimum distances between the thoracic and pelvic limbs. A random-effects linear regression model was used to compare parameters between groups. Results Significant differences between groups included smaller minimum (mean = 116 mm; P = .024) and maximum (mean = 184 mm; P = .001) distance between the thoracic limbs in CSM-affected dogs. Additionally, thoracic limb stride duration was also smaller ( P = .009) in CSM-affected dogs (mean = 0.7 seconds) when compared with normal dogs (mean = 0.8 seconds). In the pelvic limbs, the average stifle flexion (mean = 100°; P = .048) and extension (mean = 136°; P = .009), as well as number of strides (mean = 2.7 strides; P = .033) were different between groups. Conclusions and Clinical Importance Our findings suggest that computerized gait analysis reveals more consistent kinematic differences in the thoracic limbs, which can be used as future objective outcome measures. [ABSTRACT FROM AUTHOR]

No screening method is currently available to differentiate dogs with and without cervical spondylomyelopathy. Intravertebral and intervertebral ratios are used in horses and can predict cervical vertebral malformation. Intervertebral ratios could be a useful screening method for canine cervical spondylomyelopathy. Our purpose was to compare cervical intervertebral and intravertebral ratios in normal vs. affected Doberman pinschers. Forty dogs were studied, 27 affected and 13 normal. Cervical radiographs were obtained in all dogs. The minimum intra- and intervertebral sagittal diameter ratios were established for each cervical vertebrae and disc space from C2 to C7. Comparisons were made between groups and specific vertebral body and disc levels. The effect of gender, age, and method of measurement (analog or digital radiographs) was also studied. There was no difference in either the intervertebral or intravertebral ratio between normal vs. affected dogs. The ratios decreased progressively along the cervical spine, being smallest at C6- C7 and C7, respectively. Age, gender, and method of measurement had a significant influence on both inter- and intravertebral ratios, with smaller ratios seen as dogs aged and in male dogs. Based on our results, inter- or intravertebral ratios have no value to distinguish between clinically normal Doberman pinschers and Doberman pinschers with cervical spondylomyelopathy. [ABSTRACT FROM AUTHOR]