A Case Report of Osteopoikilosis in the ribs, pelvic region and spine

Osteopoikilosisis a rare inherited benign bone dysplasia incidentally found on radiological exams. It ischaracterized by a specific radiological pattern which consists in diffuse, round or oval, symmetrically shaped sclerotic bone areas distributed throughout the skeleton. It is important to do a correct diagnosis because these lesions could be easily confused with bone metastasis. We reported a case of an osteopoikilosis patient presenting to our clinic with transient loss of consciousness and without any numbness, tingling and weakness in the legs or other parts of the body. The CT scan showed multiple small sclerotic foci bone islands, scattered throughout the thoracic and lumbar spine, ribs, pelvic bone, sacrum and bilateral proximal femur. No significant increase in the activity was detected in Technetium-99m (Tc-99m) whole body bone scintigraphy. The patient was diagnosed with characteristic radiological findings of osteopoikilosis and was followed up.

Survival of dental implants in patients with bone dysplasia: A systematic review

Objective: This study used published studies to assess the survival rate of dental implants placed in patients with bone dysplasia of the maxillofacial region.Material and methods: An electronic search without a specified date range was performed using the MEDLINE, PubMed, EMBASE, Web of Science, and Cochrane databases. No gender or age restrictions were applied.Results: Eighteen publications were found that met the study’s criteria, reporting data on 18 patients with bone dysplasia including cleidocranial dysplasia (CDD), fibrous dysplasia (FD), florid cemento-osseous dysplasia (FCOD), and odonto-maxillary segmental dysplasia (SOMD), who received a total of 130 implants, an average of 7.2 implants/patient (range 1 to 16). The mean age of the patients was 36.7 years (range 15 to 70 years). For implants placed in bone dysplasia, the survival rates were 100% for patients with CDD (n = 8), FD (n = 5), SOMD (n = 2), FCOD with implants inserted far from the lesions (n = 2) and 0% for dental implants inserted within FCOD (n = 1). The mean follow-up was 38.2 months (min 6, max 60).Conclusions: Dental implants placed in patients with dysplastic bone lesions show high survival rates, similar to those in the general population for CDD, FD, and SOMD. For FCOD, the failure rate was 100%.

NPR2 gene variants in familial short stature: a single-center study

Objectives NPR2 variants are associated with various short stature and bone dysplasia, such as acromesomelic dysplasia Maroteaux tyoe, individuals with a phenotype similar to Léri–Weill syndrome (LWD), and idiopathic short stature (ISS). However, few studies have reported on the relationship between familial short stature (FSS) and NPR2 variants. This study aimed to explore the relationship between FSS and NPR2 variants through the detection and identification of NPR2 variants in children with FSS, phenotypic description, clear treatment plan, and follow-up of treatment effect. Methods Children who met the FSS diagnostic criteria and had informed consent were included in the study. The trio whole-exome sequencing method (trio-WES) was used to detect and evaluate the NPR2 variants. Results A total of 16 children with short stature were included in this study (pretreatment height ≤ −2 standard deviation (SD) in both the patient and the shorter parent, unknown genetic etiology). NPR2 variants were identified in 12.5%(2/16) of the participants. Patient A was a 6-year-old male and 103.7 cm tall (−3.11SD), while Patient B was a 9-year-old female and 123.2 cm tall (−1.88SD). However, their heights increased after recombinant human growth hormone (rhGH) treatment. The height of patient A increased by 0.36SD six months after treatment while that of patient B increased by 1.22SD after one and a half years of treatment. Conclusions NPR2 variant causes FSS. The growth rate of children significantly improved after rhGH treatment. However, further follow-up study is needed to determine the final height after long-term treatment.

Imaging in a case of classic Trevor’s disease

Trevor’s disease, also known as dysplasia epiphysealis hemimelica, is a rare developmental bone dysplasia, characterized by benign osteocartilaginous overgrowth pathologically indistinguishable from osteochondroma. The lesion arises from epiphysis more so on the medial aspect of long bones resulting in painless or painful deformities and limb length discrepancies. Imaging plays an important role in diagnosis as the features are characteristic in an appropriate demographic background. We report a case of Trevor’s disease in a 2-year male with multifocal involvement and characteristic imaging findings.

Bisphosphonate Therapy in the Management of Symptomatic Melorheostosis of Tibia

Introduction: Melorheostosis is a rare sclerosing bone disease characterized by linear hyperostotic bone dysplasia with its radiological appearance as melting candle wax dripping by its side. It usually affects long bones, especially the lower limb. The exact cause of the disease has not been clearly explained though many theories are available. It is insidious in onset and symptoms being pain, deformity, and joint stiffness. Although there is no definitive treatment, the administration of bisphosphonates dramatically reduces pain and improves the patient clinically. Case Report: We described a case of a 28-year-old female who presented with a history of pain and swelling in her left leg for the past 2 years. The onset of complaints was insidious. On physical examination, there was tender swelling over the shaft of the tibia with irregular borders. Knee and ankle range of movements were normal. Radiographs showed hyperostosis of the proximal two-thirds of the tibia of the left leg with a flowing candle wax appearance. The patient was treated with a single dose of intravenous zolendronic acid and physical therapy. The patient had dramatic alleviation of pain without the need for any further treatment till 1 year follow-up. Conclusion: Although there is no specific treatment available for this disease, the intravenous infusion of zolendronic acid has dramatically improved the patient clinically. Keywords: Melorheostosis, flowing candle wax, bisphosphonates, zolendronic acid.

Osteopetrosis in a Domestic Shorthair Cat

The purpose of this case report was to describe a cat with generalized bone dysplasia, resembling osteopetrosis and Albers-Schönberg disease in humans. A 1-year-3-month-old, intact male, domestic shorthair cat had a 9-month history of multiple bone fractures without known trauma. Most fractures were treated conservatively and two by osteosynthesis. Bone healing occurred but recurring fractures eventually led to euthanasia. Radiographs, computed tomographic imaging, postmortem analysis and histopathologic examination revealed a generalized increase in bone density and mass with preservation of bone shape, obliteration of the bone marrow cavity and persistence of cartilage and primary trabeculae. Abuse and secondary bone diseases were excluded. History, diagnostic bloodwork, radiographs, computed tomographic imaging and histopathologic examination supported the diagnosis of inherited osteopetrosis and strongly resembled Albers-Schönberg disease in humans. The presence of osteoclasts suggested that the underlying pathology might be found in osteoclast dysfunction, deficient number of osteoclasts, inadequate recruitment of osteoclasts, or other micro environmental changes. In (young) cats that are presented with recurring fractures and the possible suspicion of abuse, inherited osteopetrosis should be considered as a differential diagnosis.

Neu1 deficiency induces abnormal emotional behavior in zebrafish

NEU1 sialidase hydrolyzes sialic acids from glycoconjugates in lysosomes. Deficiency of NEU1 causes sialidosis with symptoms including facial dysmorphism, bone dysplasia, and neurodegeneration. However, the effects of NEU1 deficiency on emotional activity have not been explored. Here, we conducted the behavioral analysis using Neu1-knockout zebrafish (Neu1-KO). Neu1-KO zebrafish showed normal swimming similar to wild-type zebrafish (WT), whereas shoaling was decreased and accompanied by greater inter-fish distance than WT zebrafish. The aggression test showed a reduced aggressive behavior in Neu1-KO zebrafish than in WT zebrafish. In the mirror and 3-chambers test, Neu1-KO zebrafish showed more interest toward the opponent in the mirror and multiple unfamiliar zebrafish, respectively, than WT zebrafish. Furthermore, Neu1-KO zebrafish also showed increased interaction with different fish species, whereas WT zebrafish avoided them. In the black–white preference test, Neu1-KO zebrafish showed an abnormal preference for the white region, whereas WT zebrafish preferred the black region. Neu1-KO zebrafish were characterized by a downregulation of the anxiety-related genes of the hypothalamic–pituitary–adrenal axis and upregulation of lamp1a, an activator of lysosomal exocytosis, with their brains accumulating several sphingoglycolipids. This study revealed that Neu1 deficiency caused abnormal emotional behavior in zebrafish, possibly due to neuronal dysfunction induced by lysosomal exocytosis.

Bilateral cochlear implantation in a patient with osteopathia striata voorhoeve and cranial sclerosis

Objective: Osteopathia Striata with Cranial Sclerosis (OS-CS) is a rare form of X-linked dominant sclerosing bone dysplasia. The estimated prevalence of OS-CS is less than 1 in 1,000,000 in the general population with a little over 100 reported cases so far. Up to half of the patients suffer from hearing loss. Hearing loss is usually conductive rather than mixed or sensorineural in patients with OS-CS sclerosis. Herein, we report our experience with a patient who although initially had a conductive hearing loss, later developed sensorineural hearing loss on both sides and was treated with bilateral cochlear implantation. Patient: Thirteen-year-old female patient suffering from Osteopathia striata with cranial sclerosis and functional deafness in the left ear and a high-grade sensorineural hearing loss in the right ear. Intervention: Bilateral cochlear implantation Main outcome measures: Postoperative hearing gain, clinical outcome, audiological examination. Results: The patient showed good hearing gain of 30 dB on the left side and between 30 dB and 40 dB on the right side. Conclusions: Despite the cranial sclerosis, cochlear implantation is a viable option in improving life quality of patients with Osteopathia striata. Nevertheless, it should be noted that in such cases, there is a possibility of progressive sclerosis leading to further narrowing of the internal auditory canal or even complete closure thereby damaging the auditory nerve irreversibly. Keywords: Purple urine bag syndrome (PUBS); purple discolouration; urinary tract infection (UTI); long-term catheterization.

The role of calcium-sensing receptor signaling in regulating transepithelial calcium transport

The calcium-sensing receptor (CaSR) plays a critical role in sensing extracellular calcium (Ca2+) and signaling to maintain Ca2+ homeostasis. In the parathyroid, the CaSR regulates secretion of parathyroid hormone, which functions to increase extracellular Ca2+ levels. The CaSR is also located in other organs imperative to Ca2+ homeostasis including the kidney and intestine, where it modulates Ca2+ reabsorption and absorption, respectively. In this review, we describe CaSR expression and its function in transepithelial Ca2+ transport in the kidney and intestine. Activation of the CaSR leads to G protein dependent and independent signaling cascades. The known CaSR signal transduction pathways involved in modulating paracellular and transcellular epithelial Ca2+ transport are discussed. Mutations in the CaSR cause a range of diseases that manifest in altered serum Ca2+ levels. Gain-of-function mutations in the CaSR result in autosomal dominant hypocalcemia type 1, while loss-of-function mutations cause familial hypocalciuric hypercalcemia. Additionally, the putative serine protease, FAM111A, is discussed as a potential regulator of the CaSR because mutations in FAM111A cause Kenny Caffey syndrome type 2, gracile bone dysplasia, and osteocraniostenosis, diseases that are characterized by hypocalcemia, hypoparathyroidism, and bony abnormalities, i.e. share phenotypic features of autosomal dominant hypocalcemia. Recent work has helped to elucidate the effect of CaSR signaling cascades on downstream proteins involved in Ca2+ transport across renal and intestinal epithelia; however, much remains to be discovered.