Search Results (10)

Background: Multiple endocrine neoplasia type 1 (MEN1)-related primary hyperparathyroidism (MPHPT) belongs to genetic PHPT that accounts for 10% of all PHPT cases, being considered the most frequent hereditary PHPT (less than 5% of all PHPT). Objective: We aimed to provide an updated clinical perspective with a double purpose: to highlight the clinical features in MPHPT, particularly, the bone health assessment, as well as the parathyroidectomy (PTx) impact. Methods: A comprehensive review of the latest 5-year, English-published, PubMed-accessed original studies. Results: The sample-based analysis (n = 17 studies) enrolled 2426 subjects (1720 with MPHPT). The study design was retrospective, except for one prospective and one case–control study. The maximum number of patients per study was of 517. Female predominance (an overall female-to-male ratio of 1.139) was confirmed (except for three studies). Age at MPHPT diagnosis (mean/median per study): 28.7 to 43.1 years; age at PTx: 32 to 43.5 years. Asymptomatic PHPT was reported in 38.3% to 67% of MPHPT. Mean total calcium varied between 1.31 and 2.88 mmol/L and highest PTH was of 317.2 pg/mL. Two studies reported similar PTH and calcaemic levels in MPHPT vs. sporadic PHPT, while another found higher values in MPHPT. Symptomatic vs. asymptomatic patients with MPHPT had similar PTH and serum calcium levels (n = 1). Osteoporosis (n = 8, N = 723 with MPHPT) was reported in 10% to 55.5% of cases, osteopenia in 5.88% to 43.9% (per study); overall fracture rate was 10% (of note, one study showed 0%). Lower bone mineral density (BMD) at DXA (n = 4) in MPHPT vs. sporadic PHPT/controls was found by some studies (n = 3, and only a single study provided third distal radius DXA-BMD assessment), but not all (n = 1). Post-PTx DXA (n = 3, N = 190 with MPHPT) showed a BMD increase (e.g., +8.5% for lumbar spine, +2.1% for total hip, +4.3% for femoral neck BMD); however, post-operatory, BMD remains lower than controls. Trabecular bone score (TBS) analysis (n = 2, N = 142 with MPHPT vs. 397 with sporadic PHPT) showed a higher prevalence of reduced TBS (n = 1) or similar (n = 1). PTx analysis in MPHPT (n = 14): rate of subtotal PTx of 39% to 66.7% (per study) or less than subtotal PTx of 46.9% (n = 1). Post-PTx complications: persistent PHPT (5.6% to 25%), recurrent PHPT (16.87% to 30%, with the highest re-operation rate of 71% in one cohort); hypoparathyroidism (12.4% to 41.7%). Genetic analysis pointed out a higher risk of post-PTx recurrence in exon 10 MEN1 pathogenic variant. Post-PTx histological exam showed a multi-glandular disease in 40% to 52.1% of MPHPT, and a parathyroid carcinoma prevalence of 1%. Conclusions: MPHPT remains a challenging ailment amid a multi-layered genetic syndrome. Current data showed a lower age at MPHPT diagnosis and surgery than found in general population, and a rate of female predominance that is lower than seen in sporadic PHPT cases, but higher than known, for instance, in MEN2. The bone involvement showed heterogeneous results, more consistent for a lower BMD, but not necessarily for a lower TBS vs. controls. PTx involves a rather high rate of recurrence, persistence and redo surgery. About one out of ten patients with MPHPT might have a prevalent fracture and PTx improves the overall bone health, but seems not to restore it to the general population level, despite the young age of the subjects. This suggests that non-parathyroid components and potentially menin protein displays negative bone effects in MEN1. Full article

Background: Facial features are the first basic sign of medical knowledge of children and adults with congenital malformations. Children born with multiple contractures almost always receive the misdiagnosis of arthrogryposis multiplex. Larsen syndrome can easily be diagnosed at birth via the proper interpretations of its characteristic facial features and multiple dislocations. Comprehensive clinical diagnosis can facilitate an orthopedic strategy for early treatment and can enhance the recognition of unreported craniocervical malformation complexes. Material and Methods: Six children (four boys and two girls, with ages ranging from a few months to 7 years old) were referred to our department for diagnosis and treatment. All children received their first misdiagnosis by the pediatricians as manifesting arthrogryposis multiplex congenita. The clinical phenotype was our first decisive tool for diagnosis. All children exhibited the classical phenotype of dish-like facies associated with multiple joint dislocations. Radiological phenotypic characteristics confirmed our clinical diagnosis of Larsen syndrome. Three children out of six showed unpleasant cervical spine deformities. The first child, a 2-year-old, became tetraplegic after minor trauma. One child presented with progressive rigid cervical kyphosis. The third child was a product of a first-relative marriage and was born with congenital tetraplegia. A genotype was carried out for confirmation. Results: Three children underwent open reduction for congenital hip and knee dislocations. One child underwent spinal fusion CO-C7 because of tetraplegia. A 3D-reformatted and reconstruction CT scan of the craniocervical junction showed two forms of unusual dys-segmentation, firstly along C2-3 effectively causing the development of acute-angle cervical kyphosis. Secondly, an infant with congenital tetraplegia showed a serious previously undescribed atlanto–axial malformation complex. Namely, atlanto–axial maldevelopment (dys-segmentation) of (C1/C2) was associated with hypoplasia of the anterior and the posterior rings of the atlas. Genetic tests of these children were compatible with the autosomal dominant type of Larsen syndrome and manifested a heterozygous mutation in FLNB mapped 3p14.3, encoding an actin-binding protein, filamin B. The child with congenital tetraplegia showed no mutations in FLNB, though his clinical and radiological phenotype and his family history of first-relative marriage were totally compatible with the diagnosis of the autosomal recessive type of Larsen syndrome. Conclusions: Our strategy was and still is based on a coherent clinical and radiological diagnosis, which is based on comprehensive clinical and radiological phenotypic characterizations. We implemented a 3D-reformatted CT scan to further understand the craniocervical junction pathology in three children. Strikingly, prenatal onset of lethal maldevelopment (dys-segmentation) of the atlanto–axial spine segments has been diagnosed in an infant with congenital tetraplagia. A less serious cervical spine malformation was detected in two children who presented with progressive acute-angle cervico and cervico-thoracic kyphosis. Our clinical strategy can form the basis for a thorough clinical assessment for infants and children born with multiple malformation complexes and can lead to recognition of novel understandings. Full article

Background and Objectives: The number of hip arthroscopy procedures is on the rise worldwide, and awareness regarding proper management of the hip capsule has increased. No capsulotomy shape is agreed upon as a standard approach, with literature supporting both isolated interportal and T-shaped capsulotomies. The aim of this retrospective cohort study is to report the clinical results of a standardized extended interportal capsulotomy (EIPC) during hip arthroscopy. Materials and Methods: Patients operated on between 2017 and 2020 with a hip arthroscopy were eligible. The inclusion criteria were ages 18–60 years, failed non-operative treatment, and at least a 2-year follow-up. Exclusion criteria were bilateral femoroacetabular impingement syndrome (FAS) cases or labral lesions, ipsilateral knee injury, history of ipsilateral hip surgery, and significant spine lesions. Data regarding demographic characteristics such as age, gender, operation date, BMI, but also Beighton score, presence of postoperative pudendal nerve damage, and revision for any reason were gathered from patients’ records. All patients were evaluated preoperatively with a visual analog scale (VAS), the Hip Disability and Osteoarthritis Outcome Score (HOOS), and the modified Harris Hip Score (mHHS). Results: Of the 97 patients operated on with a hip arthroscopy between the defined dates, only 90 patients were included. The mean age was 37.9 ± 9.8, and 58.9% of patients were male. The most frequent surgical indication was an isolated FAS lesion (73.3%), followed by FAS associated with a labral tear (12.2%), an isolated labrum tear (10.0%), synovitis (3.3%), and a loose body (1.1%). The mean follow-up for the study cohort was 39.3 months. The majority of the patients had uneventful surgeries (76.7%), while there were three cases of sciatic nerve neuropraxia and 12 cases of pudendal nerve neuropraxia. Two patients underwent revision surgery during the study period. Comparison between preoperative and postoperative clinical scores showed a significant improvement with a final mHHS mean value of 67.7 ± 18.2, an HOOS value of 74.1 ± 13.2, and a low VAS score of 1.3 ± 1.2. Conclusions: A hip arthroscopy procedure with a standardized and unrepaired, extended interportal capsulotomy is a safe procedure with satisfactory mid-term results and high overall patient satisfaction. At a minimum of 2 years and a mean of 39.2 months, patients showed improved clinical scores and a low revision rate. Full article

Down syndrome (DS) is the most common form of inherited intellectual disability caused by trisomy of chromosome 21, presenting with intellectual impairment, craniofacial abnormalities, cardiac defects, and gastrointestinal disorders. The Ts65Dn mouse model replicates many abnormalities of DS. We hypothesized that investigation of the cerebral cortex of fluoxetine-treated trisomic mice may provide proteomic signatures that identify therapeutic targets for DS. Subcellular fractionation of synaptosomes from cerebral cortices of age- and brain-area-matched samples from fluoxetine-treated vs. water-treated trisomic and euploid male mice were subjected to HPLC-tandem mass spectrometry. Analysis of the data revealed enrichment of trisomic risk genes that participate in regulation of synaptic vesicular traffic, pre-synaptic and post-synaptic development, and mitochondrial energy pathways during early brain development. Proteomic analysis of trisomic synaptic fractions revealed significant downregulation of proteins involved in synaptic vesicular traffic, including vesicular endocytosis (CLTA, CLTB, CLTC), synaptic assembly and maturation (EXOC1, EXOC3, EXOC8), anterograde axonal transport (EXOC1), neurotransmitter transport to PSD (SACM1L), endosomal-lysosomal acidification (ROGDI, DMXL2), and synaptic signaling (NRXN1, HIP1, ITSN1, YWHAG). Additionally, trisomic proteomes revealed upregulation of several trafficking proteins, involved in vesicular exocytosis (Rab5B), synapse elimination (UBE3A), scission of endocytosis (DBN1), transport of ER in dendritic spines (MYO5A), presynaptic activity-dependent bulk endocytosis (FMR1), and NMDA receptor activity (GRIN2A). Chronic fluoxetine treatment of Ts65Dn mice rescued synaptic vesicular abnormalities and prevented abnormal proteomic changes in adult Ts65Dn mice, pointing to therapeutic targets for potential treatment of DS. Full article

Despite the high success rate of primary total hip replacement (THR), a significant early revision rate remains, which is largely attributed to instability and dislocations. Despite the implants being placed according to the safe zone philosophy of Lewinnek, occurrence of THR dislocation is not an uncommon complication. Large diagnostic and computational model studies have shown variability in patients’ mobility based on the individual anatomic and functional relationship of the hip–pelvis–spine complex. The absolute and relative position of hip replacement components changes throughout motion of the patient’s body. In the case of spinopelvic pathology such as spine stiffness, the system reaches abnormal positional states, as shown with computerized models. The clinical result of such pathologic hip positioning is edge loading, implant impingement, or even joint dislocation. To prevent such complications, surgeons must change the dogma of single correct implant positioning and take into account patients’ individualized anatomy and function. It is essential to broaden the standard diagnostics and their anatomical interpretation, and correct the pre-operative surgical planning. The need for correct and personalized implant placement pushes forward the development and adaptation of novel technologies in THR, such as robotics. In this current concepts narrative review, we simplify the spinopelvic biomechanics and pathoanatomy, the relevant anatomical terminology, and the diagnosis and management algorithms most commonly used today. Full article

Since Offierski and MacNab reported a close association between the hip and spine as hip–spine syndrome in 1983, many studies on spinal alignment in hip disorders have been conducted. Notably, the pelvic incidence angle (PI) is the most important parameter and is determined by the anatomical variations in the sacroiliac joint and hip. Studies on the association of the PI with hip disorders can help in understanding the pathophysiology of hip–spine syndrome. A PI increase has been observed during the evolution of bipedal locomotion in humans and in the acquisition of gait during child development. Although the PI is a fixed parameter that is stable and unaffected by posture from adulthood onwards, it has become clear that it increases in the standing position in older people. While it may be associated with a greater risk of developing or progressing to spinal disorders, the association between the PI and hip disorders remains controversial because of the multifactorial nature of hip osteoarthritis (HOA) and the wide range of PIs in HOA (18–96°), making the interpretation of results difficult. However, several hip disorders (i.e., femoroacetabular impingement and rapid destructive coxarthrosis) have been shown to be associated with the PI. Further investigation on this topic is, therefore, warranted. Full article

Sensory ataxia due to posterior cord syndrome is a relevant, disabling condition in nontraumatic spinal cord dysfunction. Ataxic gait is a common symptom of sensory ataxia that restricts activities of daily living. A 70-year-old woman with severe sensory disturbance was diagnosed with intradural extramedullary spinal cord tumors found in the thoracic spine region (T8). Surgical management of the tumors was performed. The patient received gait training 20 days after surgery (postoperative acute phase) using a hybrid assistive limb (HAL). HAL is a wearable exoskeleton cyborg that provides real-time assistance to an individual for walking and limb movements through actuators mounted on the bilateral hip and knee joints. Walking ability was assessed using the 10 m walking test, which included evaluating walking speed, step length, and cadence in every session. To evaluate the immediate effects of HAL training, walking speed and step length were measured before and after the training in each session. During the 10 m walking test, gait kinematics and lower muscle activity were recorded using a motion capture system and wireless surface electromyography before the first session and after completion of all HAL sessions. After the HAL training sessions, improvement in the patient’s gait performance was observed in the gait joint angles and muscle activity of the lower limb. After 10 training sessions, we observed the following changes from baseline: walking speed (from 0.16 m/s to 0.3 m/s), step length (from 0.19 m to 0.37 m), and cadence (from 50.9 steps/min to 49.1 steps/min). The average standard deviations of the knee (from right, 7.31; left, 6.75; to right, 2.93; p < 0.01, left, 2.63; p < 0.01) and ankle joints (from right, 6.98; left, 5.40; to right, 2.39; p < 0.01, left, 2.18; p < 0.01) were significantly decreased. Additionally, walking speed and step length improved immediately after completing all the HAL training sessions. This suggests that HAL gait training might be a suitable physical rehabilitation program for patients with sensory ataxia causing dysfunctional movement of the lower limb. Full article

Previous studies have reported inconsistent results regarding the associations between metabolic syndrome (MetS) and obesity-related indices and bone mineral density (BMD). However, no previous studies have reported these associations among hemodialysis (HD) patients. The aims of this study were to investigate associations between MetS and its components and BMD T-score in HD patients and also between obesity-related indices and BMD T-score in HD patients with and without MetS. MetS was defined according to the Adult Treatment Panel III for Asians, and BMD T-score was calculated using dual-energy X-ray absorptiometry. Eight obesity-related indices were evaluated, including lipid accumulation product (LAP), visceral adiposity index (VAI), body adiposity index, conicity index (CI), body roundness index (BRI), abdominal volume index (AVI), waist-to-height ratio (WHtR), waist–hip ratio, and body mass index (BMI). One hundred and sixty-four patients undergoing HD were enrolled, and the prevalence of MetS was 61.6%. MetS was significantly associated with high lumbar spine and total hip T-scores. Regarding the MetS components, abdominal obesity and low HDL-C were significantly associated with high lumbar spine, femoral neck, and total hip T-scores; hypertriglyceridemia was significantly associated with high lumbar spine and total hip T-scores; hyperglycemia was significantly associated with a high lumbar spine T-score, whereas high blood pressure was not associated with T-score at any site. In the patients with MetS, BMI, WHtR, AVI, and BRI were significantly associated with T-score at all sites, and high CI, VAI, and LAP were also related to a high lumbar T-score. However, these indices were not associated with T-score at any site in patients without MetS. This study demonstrated positive associations between MetS and its five components and BMD T-score among HD patients. MetS, abdominal obesity, hypertriglyceridemia, and low HDL-cholesterol were associated with low risk of osteoporosis among the HD patients. Furthermore, we found that some obesity-related indices were associated with BMD T-score among HD patients with MetS but not in those without MetS. Our study highlights the importance of BMI, WHtR, AVI, and BRI in predicting the risk of osteoporosis among HD patients with MetS. In clinical practice, they can be easily calculated through simple anthropometric measurements and routine laboratory examinations and be used to quickly and conveniently assess the risk of osteoporosis among HD patients. Full article

Background: Disorders of the hip and lumbar spine can create similar patterns of pain and dysfunction. It is unknown whether all surgeons, regardless of orthopedic or neurosurgery training, investigate and diagnose concurrent hip and spine pathology at the same rate. Methods: Data were retrieved from Taiwan’s National Health Insurance Research Database (NHIRD). Enrolled patients were stratified into hip and spine surgery at the same admission (Both), hip surgery before spine surgery (HS), or spine surgery before hip surgery (SH). The SH group was further subdivided based on whether spine surgery was performed by an orthopedic surgeon (OS) or neurosurgeon (NS), and differences in preoperative radiographic examinations and diagnoses were collected and analyzed. Results: In total, 1824 patients received lumbar spine surgery within 1 year before or after hip replacement surgery. Of these, 103 patients had spine and hip surgery in the same admission (Both), 1290 patients had spine surgery before hip surgery (SH), and 431 patients had hip surgery before spine surgery (HS). In the SH group, patients were categorized into spine surgery by orthopedic surgeons (OS) (n = 679) or neurosurgeons (NS) (n = 522). In the SH group, orthopedic surgeons investigated hip pathology with X-rays more often (52.6% vs. 38.1%, p < 0.001) and diagnosed more cases of hip disease (43.6% vs. 28.9%, p < 0.001) than neurosurgeons. Conclusions: Of patients in Taiwan’s NHIRD who had concurrent surgical degenerative hip and lumbar spine disorders who had spine surgery before hip surgery, orthopedic surgeons obtained hip images and made hip-related diagnoses more frequently than did neurosurgeons. Full article

Bone mineral density (BMD) is of concern in Prader-Willi syndrome (PWS). This study compared responses to a physical activity intervention in bone parameters and remodeling markers in youth with PWS (n = 45) and youth with non-syndromic obesity (NSO; n = 66). Measurements occurred at baseline (PRE) and after 24 weeks (POST) of a home-based active games intervention with strengthening and jumping exercises (intervention group = I) or after a no-intervention period (control group = C). Dual x-ray absorptiometry scans of the hip and lumbar spine (L1-L4) determined BMD and bone mineral content (BMC). Bone markers included fasting bone-specific alkaline phosphatase (BAP) and C-terminal telopeptide of type I collagen (CTx). Both I and C groups increased their hip BMD and BMC (p < 0.001). Youth with PWS-I increased their spine BMC from PRE to POST (p < 0.001) but not youth with PWS-C (p = 1.000). Youth with NSO (I and C) increased their spine BMC between PRE and POST (all p < 0.001). Youth with PWS showed lower BAP (108.28 ± 9.19 vs. 139.07 ± 6.41 U/L; p = 0.006) and similar CTx (2.07 ± 0.11 vs.1.84 ± 0.14 ng/dL; p = 0.193) than those with NSO regardless of time. Likely, the novelty of the intervention exercises for those with PWS contributed to gains in spine BMC beyond growth. Bone remodeling markers were unaltered by the intervention. Full article